Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688762A>C | CA426124800 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1035T>G (p.Pro345=) c.948-623T>G (n.948-623T>G) c.3441+17082A>C (n.3441+17082A>C) c.948-179T>G (n.948-179T>G) c.954T>G (p.Pro318=) c.276+17082A>C (n.276+17082A>C) c.*220+5462T>G (n.*220+5462T>G) c.78T>G (p.Pro26=) c.105T>G (p.Pro35=) c.960T>G (p.Pro320=) c.774T>G (p.Pro258=) c.693T>G (p.Pro231=) c.399T>G (p.Pro133=) c.780T>G (p.Pro260=) | |
2 | g.48688762A>G | CA426124801 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1035T>C (p.Pro345=) c.948-623T>C (n.948-623T>C) c.3441+17082A>G (n.3441+17082A>G) c.948-179T>C (n.948-179T>C) c.954T>C (p.Pro318=) c.276+17082A>G (n.276+17082A>G) c.*220+5462T>C (n.*220+5462T>C) c.78T>C (p.Pro26=) c.105T>C (p.Pro35=) c.960T>C (p.Pro320=) c.774T>C (p.Pro258=) c.693T>C (p.Pro231=) c.399T>C (p.Pro133=) c.780T>C (p.Pro260=) | |
2 | g.48688762A>T | CA426124802 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1035T>A (p.Pro345=) c.948-623T>A (n.948-623T>A) c.3441+17082A>T (n.3441+17082A>T) c.948-179T>A (n.948-179T>A) c.954T>A (p.Pro318=) c.276+17082A>T (n.276+17082A>T) c.*220+5462T>A (n.*220+5462T>A) c.78T>A (p.Pro26=) c.105T>A (p.Pro35=) c.960T>A (p.Pro320=) c.774T>A (p.Pro258=) c.693T>A (p.Pro231=) c.399T>A (p.Pro133=) c.780T>A (p.Pro260=) | |
2 | g.48688763G>A | CA346750055 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1034C>T (p.Pro345Leu) c.948-624C>T (n.948-624C>T) c.3441+17083G>A (n.3441+17083G>A) c.948-180C>T (n.948-180C>T) c.953C>T (p.Pro318Leu) c.276+17083G>A (n.276+17083G>A) c.*220+5461C>T (n.*220+5461C>T) c.77C>T (p.Pro26Leu) c.104C>T (p.Pro35Leu) c.959C>T (p.Pro320Leu) c.773C>T (p.Pro258Leu) c.692C>T (p.Pro231Leu) c.398C>T (p.Pro133Leu) c.779C>T (p.Pro260Leu) | |
2 | g.48688763G>C | CA346750060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1034C>G (p.Pro345Arg) c.948-624C>G (n.948-624C>G) c.3441+17083G>C (n.3441+17083G>C) c.948-180C>G (n.948-180C>G) c.953C>G (p.Pro318Arg) c.276+17083G>C (n.276+17083G>C) c.*220+5461C>G (n.*220+5461C>G) c.77C>G (p.Pro26Arg) c.104C>G (p.Pro35Arg) c.959C>G (p.Pro320Arg) c.773C>G (p.Pro258Arg) c.692C>G (p.Pro231Arg) c.398C>G (p.Pro133Arg) c.779C>G (p.Pro260Arg) | |
2 | g.48688763G>T | CA346750058 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1034C>A (p.Pro345His) c.948-624C>A (n.948-624C>A) c.3441+17083G>T (n.3441+17083G>T) c.948-180C>A (n.948-180C>A) c.953C>A (p.Pro318His) c.276+17083G>T (n.276+17083G>T) c.*220+5461C>A (n.*220+5461C>A) c.77C>A (p.Pro26His) c.104C>A (p.Pro35His) c.959C>A (p.Pro320His) c.773C>A (p.Pro258His) c.692C>A (p.Pro231His) c.398C>A (p.Pro133His) c.779C>A (p.Pro260His) | |
2 | g.48688764G>A | CA346750061 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1033C>T (p.Pro345Ser) c.948-625C>T (n.948-625C>T) c.3441+17084G>A (n.3441+17084G>A) c.948-181C>T (n.948-181C>T) c.952C>T (p.Pro318Ser) c.276+17084G>A (n.276+17084G>A) c.*220+5460C>T (n.*220+5460C>T) c.76C>T (p.Pro26Ser) c.103C>T (p.Pro35Ser) c.958C>T (p.Pro320Ser) c.772C>T (p.Pro258Ser) c.691C>T (p.Pro231Ser) c.397C>T (p.Pro133Ser) c.778C>T (p.Pro260Ser) | gnomAD v4 COSMIC |
2 | g.48688764G>C | CA346750062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1033C>G (p.Pro345Ala) c.948-625C>G (n.948-625C>G) c.3441+17084G>C (n.3441+17084G>C) c.948-181C>G (n.948-181C>G) c.952C>G (p.Pro318Ala) c.276+17084G>C (n.276+17084G>C) c.*220+5460C>G (n.*220+5460C>G) c.76C>G (p.Pro26Ala) c.103C>G (p.Pro35Ala) c.958C>G (p.Pro320Ala) c.772C>G (p.Pro258Ala) c.691C>G (p.Pro231Ala) c.397C>G (p.Pro133Ala) c.778C>G (p.Pro260Ala) | |
2 | g.48688764G>T | CA346750064 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1033C>A (p.Pro345Thr) c.948-625C>A (n.948-625C>A) c.3441+17084G>T (n.3441+17084G>T) c.948-181C>A (n.948-181C>A) c.952C>A (p.Pro318Thr) c.276+17084G>T (n.276+17084G>T) c.*220+5460C>A (n.*220+5460C>A) c.76C>A (p.Pro26Thr) c.103C>A (p.Pro35Thr) c.958C>A (p.Pro320Thr) c.772C>A (p.Pro258Thr) c.691C>A (p.Pro231Thr) c.397C>A (p.Pro133Thr) c.778C>A (p.Pro260Thr) | |
2 | g.48688765A>C | CA426124806 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1032T>G (p.Ala344=) c.948-626T>G (n.948-626T>G) c.3441+17085A>C (n.3441+17085A>C) c.948-182T>G (n.948-182T>G) c.951T>G (p.Ala317=) c.276+17085A>C (n.276+17085A>C) c.*220+5459T>G (n.*220+5459T>G) c.75T>G (p.Ala25=) c.102T>G (p.Ala34=) c.957T>G (p.Ala319=) c.771T>G (p.Ala257=) c.690T>G (p.Ala230=) c.396T>G (p.Ala132=) c.777T>G (p.Ala259=) | |
2 | g.48688765A>G | CA426124807 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1032T>C (p.Ala344=) c.948-626T>C (n.948-626T>C) c.3441+17085A>G (n.3441+17085A>G) c.948-182T>C (n.948-182T>C) c.951T>C (p.Ala317=) c.276+17085A>G (n.276+17085A>G) c.*220+5459T>C (n.*220+5459T>C) c.75T>C (p.Ala25=) c.102T>C (p.Ala34=) c.957T>C (p.Ala319=) c.771T>C (p.Ala257=) c.690T>C (p.Ala230=) c.396T>C (p.Ala132=) c.777T>C (p.Ala259=) | |
2 | g.48688765A>T | CA426124808 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1032T>A (p.Ala344=) c.948-626T>A (n.948-626T>A) c.3441+17085A>T (n.3441+17085A>T) c.948-182T>A (n.948-182T>A) c.951T>A (p.Ala317=) c.276+17085A>T (n.276+17085A>T) c.*220+5459T>A (n.*220+5459T>A) c.75T>A (p.Ala25=) c.102T>A (p.Ala34=) c.957T>A (p.Ala319=) c.771T>A (p.Ala257=) c.690T>A (p.Ala230=) c.396T>A (p.Ala132=) c.777T>A (p.Ala259=) | |
2 | g.48688766G>A | CA1653092 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1031C>T (p.Ala344Val) c.948-627C>T (n.948-627C>T) c.3441+17086G>A (n.3441+17086G>A) c.948-183C>T (n.948-183C>T) c.950C>T (p.Ala317Val) c.276+17086G>A (n.276+17086G>A) c.*220+5458C>T (n.*220+5458C>T) c.74C>T (p.Ala25Val) c.101C>T (p.Ala34Val) c.956C>T (p.Ala319Val) c.770C>T (p.Ala257Val) c.689C>T (p.Ala230Val) c.395C>T (p.Ala132Val) c.776C>T (p.Ala259Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688766G>C | CA346750067 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1031C>G (p.Ala344Gly) c.948-627C>G (n.948-627C>G) c.3441+17086G>C (n.3441+17086G>C) c.948-183C>G (n.948-183C>G) c.950C>G (p.Ala317Gly) c.276+17086G>C (n.276+17086G>C) c.*220+5458C>G (n.*220+5458C>G) c.74C>G (p.Ala25Gly) c.101C>G (p.Ala34Gly) c.956C>G (p.Ala319Gly) c.770C>G (p.Ala257Gly) c.689C>G (p.Ala230Gly) c.395C>G (p.Ala132Gly) c.776C>G (p.Ala259Gly) | |
2 | g.48688766G= | CA1248601260 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1031C= (p.Ala344=) c.948-627C= (n.948-627C=) c.3441+17086G= (n.3441+17086G=) c.948-183C= (n.948-183C=) c.950C= (p.Ala317=) c.276+17086G= (n.276+17086G=) c.*220+5458C= (n.*220+5458C=) c.74C= (p.Ala25=) c.101C= (p.Ala34=) c.956C= (p.Ala319=) c.770C= (p.Ala257=) c.689C= (p.Ala230=) c.395C= (p.Ala132=) c.776C= (p.Ala259=) | |
2 | g.48688766G>T | CA346750068 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1031C>A (p.Ala344Asp) c.948-627C>A (n.948-627C>A) c.3441+17086G>T (n.3441+17086G>T) c.948-183C>A (n.948-183C>A) c.950C>A (p.Ala317Asp) c.276+17086G>T (n.276+17086G>T) c.*220+5458C>A (n.*220+5458C>A) c.74C>A (p.Ala25Asp) c.101C>A (p.Ala34Asp) c.956C>A (p.Ala319Asp) c.770C>A (p.Ala257Asp) c.689C>A (p.Ala230Asp) c.395C>A (p.Ala132Asp) c.776C>A (p.Ala259Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688767C>A | CA346750071 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1030G>T (p.Ala344Ser) c.948-628G>T (n.948-628G>T) c.3441+17087C>A (n.3441+17087C>A) c.948-184G>T (n.948-184G>T) c.949G>T (p.Ala317Ser) c.276+17087C>A (n.276+17087C>A) c.*220+5457G>T (n.*220+5457G>T) c.73G>T (p.Ala25Ser) c.100G>T (p.Ala34Ser) c.955G>T (p.Ala319Ser) c.769G>T (p.Ala257Ser) c.688G>T (p.Ala230Ser) c.394G>T (p.Ala132Ser) c.775G>T (p.Ala259Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688767C= | CA1248601261 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1030G= (p.Ala344=) c.948-628G= (n.948-628G=) c.3441+17087C= (n.3441+17087C=) c.948-184G= (n.948-184G=) c.949G= (p.Ala317=) c.276+17087C= (n.276+17087C=) c.*220+5457G= (n.*220+5457G=) c.73G= (p.Ala25=) c.100G= (p.Ala34=) c.955G= (p.Ala319=) c.769G= (p.Ala257=) c.688G= (p.Ala230=) c.394G= (p.Ala132=) c.775G= (p.Ala259=) | |
2 | g.48688767C>G | CA346750072 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1030G>C (p.Ala344Pro) c.948-628G>C (n.948-628G>C) c.3441+17087C>G (n.3441+17087C>G) c.948-184G>C (n.948-184G>C) c.949G>C (p.Ala317Pro) c.276+17087C>G (n.276+17087C>G) c.*220+5457G>C (n.*220+5457G>C) c.73G>C (p.Ala25Pro) c.100G>C (p.Ala34Pro) c.955G>C (p.Ala319Pro) c.769G>C (p.Ala257Pro) c.688G>C (p.Ala230Pro) c.394G>C (p.Ala132Pro) c.775G>C (p.Ala259Pro) | COSMIC |
2 | g.48688767C>T | CA346750075 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1030G>A (p.Ala344Thr) c.948-628G>A (n.948-628G>A) c.3441+17087C>T (n.3441+17087C>T) c.948-184G>A (n.948-184G>A) c.949G>A (p.Ala317Thr) c.276+17087C>T (n.276+17087C>T) c.*220+5457G>A (n.*220+5457G>A) c.73G>A (p.Ala25Thr) c.100G>A (p.Ala34Thr) c.955G>A (p.Ala319Thr) c.769G>A (p.Ala257Thr) c.688G>A (p.Ala230Thr) c.394G>A (p.Ala132Thr) c.775G>A (p.Ala259Thr) | |
2 | g.48688768A>C | CA346750077 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1029T>G (p.Cys343Trp) c.948-629T>G (n.948-629T>G) c.3441+17088A>C (n.3441+17088A>C) c.948-185T>G (n.948-185T>G) c.948T>G (p.Cys316Trp) c.276+17088A>C (n.276+17088A>C) c.*220+5456T>G (n.*220+5456T>G) c.72T>G (p.Cys24Trp) c.99T>G (p.Cys33Trp) c.954T>G (p.Cys318Trp) c.768T>G (p.Cys256Trp) c.687T>G (p.Cys229Trp) c.393T>G (p.Cys131Trp) c.774T>G (p.Cys258Trp) | |
2 | g.48688768A>G | CA426124812 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1029T>C (p.Cys343=) c.948-629T>C (n.948-629T>C) c.3441+17088A>G (n.3441+17088A>G) c.948-185T>C (n.948-185T>C) c.948T>C (p.Cys316=) c.276+17088A>G (n.276+17088A>G) c.*220+5456T>C (n.*220+5456T>C) c.72T>C (p.Cys24=) c.99T>C (p.Cys33=) c.954T>C (p.Cys318=) c.768T>C (p.Cys256=) c.687T>C (p.Cys229=) c.393T>C (p.Cys131=) c.774T>C (p.Cys258=) | gnomAD v4 |
2 | g.48688768A>T | CA346750078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1029T>A (p.Cys343Ter) c.948-629T>A (n.948-629T>A) c.3441+17088A>T (n.3441+17088A>T) c.948-185T>A (n.948-185T>A) c.948T>A (p.Cys316Ter) c.276+17088A>T (n.276+17088A>T) c.*220+5456T>A (n.*220+5456T>A) c.72T>A (p.Cys24Ter) c.99T>A (p.Cys33Ter) c.954T>A (p.Cys318Ter) c.768T>A (p.Cys256Ter) c.687T>A (p.Cys229Ter) c.393T>A (p.Cys131Ter) c.774T>A (p.Cys258Ter) | |
2 | g.48688769C>A | CA346750089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1028G>T (p.Cys343Phe) c.948-630G>T (n.948-630G>T) c.3441+17089C>A (n.3441+17089C>A) c.948-186G>T (n.948-186G>T) c.947G>T (p.Cys316Phe) c.276+17089C>A (n.276+17089C>A) c.*220+5455G>T (n.*220+5455G>T) c.71G>T (p.Cys24Phe) c.98G>T (p.Cys33Phe) c.953G>T (p.Cys318Phe) c.767G>T (p.Cys256Phe) c.686G>T (p.Cys229Phe) c.392G>T (p.Cys131Phe) c.773G>T (p.Cys258Phe) | |
2 | g.48688769C>G | CA346750087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1028G>C (p.Cys343Ser) c.948-630G>C (n.948-630G>C) c.3441+17089C>G (n.3441+17089C>G) c.948-186G>C (n.948-186G>C) c.947G>C (p.Cys316Ser) c.276+17089C>G (n.276+17089C>G) c.*220+5455G>C (n.*220+5455G>C) c.71G>C (p.Cys24Ser) c.98G>C (p.Cys33Ser) c.953G>C (p.Cys318Ser) c.767G>C (p.Cys256Ser) c.686G>C (p.Cys229Ser) c.392G>C (p.Cys131Ser) c.773G>C (p.Cys258Ser) | |
2 | g.48688769C>T | CA346750083 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1028G>A (p.Cys343Tyr) c.948-630G>A (n.948-630G>A) c.3441+17089C>T (n.3441+17089C>T) c.948-186G>A (n.948-186G>A) c.947G>A (p.Cys316Tyr) c.276+17089C>T (n.276+17089C>T) c.*220+5455G>A (n.*220+5455G>A) c.71G>A (p.Cys24Tyr) c.98G>A (p.Cys33Tyr) c.953G>A (p.Cys318Tyr) c.767G>A (p.Cys256Tyr) c.686G>A (p.Cys229Tyr) c.392G>A (p.Cys131Tyr) c.773G>A (p.Cys258Tyr) | gnomAD v4 |
2 | g.48688770A= | CA1248601262 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1027T= (p.Cys343=) c.948-631T= (n.948-631T=) c.3441+17090A= (n.3441+17090A=) c.948-187T= (n.948-187T=) c.946T= (p.Cys316=) c.276+17090A= (n.276+17090A=) c.*220+5454T= (n.*220+5454T=) c.70T= (p.Cys24=) c.97T= (p.Cys33=) c.952T= (p.Cys318=) c.766T= (p.Cys256=) c.685T= (p.Cys229=) c.391T= (p.Cys131=) c.772T= (p.Cys258=) | |
2 | g.48688770A>C | CA346750091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1027T>G (p.Cys343Gly) c.948-631T>G (n.948-631T>G) c.3441+17090A>C (n.3441+17090A>C) c.948-187T>G (n.948-187T>G) c.946T>G (p.Cys316Gly) c.276+17090A>C (n.276+17090A>C) c.*220+5454T>G (n.*220+5454T>G) c.70T>G (p.Cys24Gly) c.97T>G (p.Cys33Gly) c.952T>G (p.Cys318Gly) c.766T>G (p.Cys256Gly) c.685T>G (p.Cys229Gly) c.391T>G (p.Cys131Gly) c.772T>G (p.Cys258Gly) | |
2 | g.48688770A>G | CA346750095 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1027T>C (p.Cys343Arg) c.948-631T>C (n.948-631T>C) c.3441+17090A>G (n.3441+17090A>G) c.948-187T>C (n.948-187T>C) c.946T>C (p.Cys316Arg) c.276+17090A>G (n.276+17090A>G) c.*220+5454T>C (n.*220+5454T>C) c.70T>C (p.Cys24Arg) c.97T>C (p.Cys33Arg) c.952T>C (p.Cys318Arg) c.766T>C (p.Cys256Arg) c.685T>C (p.Cys229Arg) c.391T>C (p.Cys131Arg) c.772T>C (p.Cys258Arg) | |
2 | g.48688770A>T | CA250649 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1027T>A (p.Cys343Ser) c.948-631T>A (n.948-631T>A) c.3441+17090A>T (n.3441+17090A>T) c.948-187T>A (n.948-187T>A) c.946T>A (p.Cys316Ser) c.276+17090A>T (n.276+17090A>T) c.*220+5454T>A (n.*220+5454T>A) c.70T>A (p.Cys24Ser) c.97T>A (p.Cys33Ser) c.952T>A (p.Cys318Ser) c.766T>A (p.Cys256Ser) c.685T>A (p.Cys229Ser) c.391T>A (p.Cys131Ser) c.772T>A (p.Cys258Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.48688771T>A | CA426124839 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1026A>T (p.Arg342=) c.948-632A>T (n.948-632A>T) c.3441+17091T>A (n.3441+17091T>A) c.948-188A>T (n.948-188A>T) c.945A>T (p.Arg315=) c.276+17091T>A (n.276+17091T>A) c.*220+5453A>T (n.*220+5453A>T) c.69A>T (p.Arg23=) c.96A>T (p.Arg32=) c.951A>T (p.Arg317=) c.765A>T (p.Arg255=) c.684A>T (p.Arg228=) c.390A>T (p.Arg130=) c.771A>T (p.Arg257=) | |
2 | g.48688771T>C | CA426124840 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1026A>G (p.Arg342=) c.948-632A>G (n.948-632A>G) c.3441+17091T>C (n.3441+17091T>C) c.948-188A>G (n.948-188A>G) c.945A>G (p.Arg315=) c.276+17091T>C (n.276+17091T>C) c.*220+5453A>G (n.*220+5453A>G) c.69A>G (p.Arg23=) c.96A>G (p.Arg32=) c.951A>G (p.Arg317=) c.765A>G (p.Arg255=) c.684A>G (p.Arg228=) c.390A>G (p.Arg130=) c.771A>G (p.Arg257=) | |
2 | g.48688771T>G | CA426124841 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1026A>C (p.Arg342=) c.948-632A>C (n.948-632A>C) c.3441+17091T>G (n.3441+17091T>G) c.948-188A>C (n.948-188A>C) c.945A>C (p.Arg315=) c.276+17091T>G (n.276+17091T>G) c.*220+5453A>C (n.*220+5453A>C) c.69A>C (p.Arg23=) c.96A>C (p.Arg32=) c.951A>C (p.Arg317=) c.765A>C (p.Arg255=) c.684A>C (p.Arg228=) c.390A>C (p.Arg130=) c.771A>C (p.Arg257=) | |
2 | g.48688772C>A | CA346750099 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1025G>T (p.Arg342Leu) c.948-633G>T (n.948-633G>T) c.3441+17092C>A (n.3441+17092C>A) c.948-189G>T (n.948-189G>T) c.944G>T (p.Arg315Leu) c.276+17092C>A (n.276+17092C>A) c.*220+5452G>T (n.*220+5452G>T) c.68G>T (p.Arg23Leu) c.95G>T (p.Arg32Leu) c.950G>T (p.Arg317Leu) c.764G>T (p.Arg255Leu) c.683G>T (p.Arg228Leu) c.389G>T (p.Arg130Leu) c.770G>T (p.Arg257Leu) | gnomAD v4 |
2 | g.48688772C= | CA1248601263 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1025G= (p.Arg342=) c.948-633G= (n.948-633G=) c.3441+17092C= (n.3441+17092C=) c.948-189G= (n.948-189G=) c.944G= (p.Arg315=) c.276+17092C= (n.276+17092C=) c.*220+5452G= (n.*220+5452G=) c.68G= (p.Arg23=) c.95G= (p.Arg32=) c.950G= (p.Arg317=) c.764G= (p.Arg255=) c.683G= (p.Arg228=) c.389G= (p.Arg130=) c.770G= (p.Arg257=) | |
2 | g.48688772C>G | CA346750102 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1025G>C (p.Arg342Pro) c.948-633G>C (n.948-633G>C) c.3441+17092C>G (n.3441+17092C>G) c.948-189G>C (n.948-189G>C) c.944G>C (p.Arg315Pro) c.276+17092C>G (n.276+17092C>G) c.*220+5452G>C (n.*220+5452G>C) c.68G>C (p.Arg23Pro) c.95G>C (p.Arg32Pro) c.950G>C (p.Arg317Pro) c.764G>C (p.Arg255Pro) c.683G>C (p.Arg228Pro) c.389G>C (p.Arg130Pro) c.770G>C (p.Arg257Pro) | |
2 | g.48688772C>T | CA1653093 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1025G>A (p.Arg342Gln) c.948-633G>A (n.948-633G>A) c.3441+17092C>T (n.3441+17092C>T) c.948-189G>A (n.948-189G>A) c.944G>A (p.Arg315Gln) c.276+17092C>T (n.276+17092C>T) c.*220+5452G>A (n.*220+5452G>A) c.68G>A (p.Arg23Gln) c.95G>A (p.Arg32Gln) c.950G>A (p.Arg317Gln) c.764G>A (p.Arg255Gln) c.683G>A (p.Arg228Gln) c.389G>A (p.Arg130Gln) c.770G>A (p.Arg257Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688773G>A | CA1653094 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1024C>T (p.Arg342Ter) c.948-634C>T (n.948-634C>T) c.3441+17093G>A (n.3441+17093G>A) c.948-190C>T (n.948-190C>T) c.943C>T (p.Arg315Ter) c.276+17093G>A (n.276+17093G>A) c.*220+5451C>T (n.*220+5451C>T) c.67C>T (p.Arg23Ter) c.94C>T (p.Arg32Ter) c.949C>T (p.Arg317Ter) c.763C>T (p.Arg255Ter) c.682C>T (p.Arg228Ter) c.388C>T (p.Arg130Ter) c.769C>T (p.Arg257Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688773G>C | CA346750122 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1024C>G (p.Arg342Gly) c.948-634C>G (n.948-634C>G) c.3441+17093G>C (n.3441+17093G>C) c.948-190C>G (n.948-190C>G) c.943C>G (p.Arg315Gly) c.276+17093G>C (n.276+17093G>C) c.*220+5451C>G (n.*220+5451C>G) c.67C>G (p.Arg23Gly) c.94C>G (p.Arg32Gly) c.949C>G (p.Arg317Gly) c.763C>G (p.Arg255Gly) c.682C>G (p.Arg228Gly) c.388C>G (p.Arg130Gly) c.769C>G (p.Arg257Gly) | |
2 | g.48688773G= | CA1248601264 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1024C= (p.Arg342=) c.948-634C= (n.948-634C=) c.3441+17093G= (n.3441+17093G=) c.948-190C= (n.948-190C=) c.943C= (p.Arg315=) c.276+17093G= (n.276+17093G=) c.*220+5451C= (n.*220+5451C=) c.67C= (p.Arg23=) c.94C= (p.Arg32=) c.949C= (p.Arg317=) c.763C= (p.Arg255=) c.682C= (p.Arg228=) c.388C= (p.Arg130=) c.769C= (p.Arg257=) | |
2 | g.48688773G>T | CA426124842 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1024C>A (p.Arg342=) c.948-634C>A (n.948-634C>A) c.3441+17093G>T (n.3441+17093G>T) c.948-190C>A (n.948-190C>A) c.943C>A (p.Arg315=) c.276+17093G>T (n.276+17093G>T) c.*220+5451C>A (n.*220+5451C>A) c.67C>A (p.Arg23=) c.94C>A (p.Arg32=) c.949C>A (p.Arg317=) c.763C>A (p.Arg255=) c.682C>A (p.Arg228=) c.388C>A (p.Arg130=) c.769C>A (p.Arg257=) | |
2 | g.48688776del | CA2658992090 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1024del (p.Arg342AspfsTer24) c.948-634del (n.948-634del) c.3441+17096del (n.3441+17096del) c.948-190del (n.948-190del) c.943del (p.Arg315AspfsTer24) c.276+17096del (n.276+17096del) c.*220+5451del (n.*220+5451del) c.67del (p.Arg23AspfsTer24) c.94del (p.Arg32AspfsTer24) c.949del (p.Arg317AspfsTer24) c.763del (p.Arg255AspfsTer24) c.682del (p.Arg228AspfsTer24) c.388del (p.Arg130AspfsTer24) c.769del (p.Arg257AspfsTer24) | gnomAD v4 |
2 | g.48688774G>A | CA426124843 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1023C>T (p.Pro341=) c.948-635C>T (n.948-635C>T) c.3441+17094G>A (n.3441+17094G>A) c.948-191C>T (n.948-191C>T) c.942C>T (p.Pro314=) c.276+17094G>A (n.276+17094G>A) c.*220+5450C>T (n.*220+5450C>T) c.66C>T (p.Pro22=) c.93C>T (p.Pro31=) c.948C>T (p.Pro316=) c.762C>T (p.Pro254=) c.681C>T (p.Pro227=) c.387C>T (p.Pro129=) c.768C>T (p.Pro256=) | ClinVar COSMIC |
2 | g.48688774G>C | CA426124844 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1023C>G (p.Pro341=) c.948-635C>G (n.948-635C>G) c.3441+17094G>C (n.3441+17094G>C) c.948-191C>G (n.948-191C>G) c.942C>G (p.Pro314=) c.276+17094G>C (n.276+17094G>C) c.*220+5450C>G (n.*220+5450C>G) c.66C>G (p.Pro22=) c.93C>G (p.Pro31=) c.948C>G (p.Pro316=) c.762C>G (p.Pro254=) c.681C>G (p.Pro227=) c.387C>G (p.Pro129=) c.768C>G (p.Pro256=) | |
2 | g.48688774G>T | CA426124845 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1023C>A (p.Pro341=) c.948-635C>A (n.948-635C>A) c.3441+17094G>T (n.3441+17094G>T) c.948-191C>A (n.948-191C>A) c.942C>A (p.Pro314=) c.276+17094G>T (n.276+17094G>T) c.*220+5450C>A (n.*220+5450C>A) c.66C>A (p.Pro22=) c.93C>A (p.Pro31=) c.948C>A (p.Pro316=) c.762C>A (p.Pro254=) c.681C>A (p.Pro227=) c.387C>A (p.Pro129=) c.768C>A (p.Pro256=) | |
2 | g.48688775G>A | CA346750125 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1022C>T (p.Pro341Leu) c.948-636C>T (n.948-636C>T) c.3441+17095G>A (n.3441+17095G>A) c.948-192C>T (n.948-192C>T) c.941C>T (p.Pro314Leu) c.276+17095G>A (n.276+17095G>A) c.*220+5449C>T (n.*220+5449C>T) c.65C>T (p.Pro22Leu) c.92C>T (p.Pro31Leu) c.947C>T (p.Pro316Leu) c.761C>T (p.Pro254Leu) c.680C>T (p.Pro227Leu) c.386C>T (p.Pro129Leu) c.767C>T (p.Pro256Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688775G>C | CA346750128 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1022C>G (p.Pro341Arg) c.948-636C>G (n.948-636C>G) c.3441+17095G>C (n.3441+17095G>C) c.948-192C>G (n.948-192C>G) c.941C>G (p.Pro314Arg) c.276+17095G>C (n.276+17095G>C) c.*220+5449C>G (n.*220+5449C>G) c.65C>G (p.Pro22Arg) c.92C>G (p.Pro31Arg) c.947C>G (p.Pro316Arg) c.761C>G (p.Pro254Arg) c.680C>G (p.Pro227Arg) c.386C>G (p.Pro129Arg) c.767C>G (p.Pro256Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688775G= | CA1248601265 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1022C= (p.Pro341=) c.948-636C= (n.948-636C=) c.3441+17095G= (n.3441+17095G=) c.948-192C= (n.948-192C=) c.941C= (p.Pro314=) c.276+17095G= (n.276+17095G=) c.*220+5449C= (n.*220+5449C=) c.65C= (p.Pro22=) c.92C= (p.Pro31=) c.947C= (p.Pro316=) c.761C= (p.Pro254=) c.680C= (p.Pro227=) c.386C= (p.Pro129=) c.767C= (p.Pro256=) | |
2 | g.48688775G>T | CA346750131 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1022C>A (p.Pro341His) c.948-636C>A (n.948-636C>A) c.3441+17095G>T (n.3441+17095G>T) c.948-192C>A (n.948-192C>A) c.941C>A (p.Pro314His) c.276+17095G>T (n.276+17095G>T) c.*220+5449C>A (n.*220+5449C>A) c.65C>A (p.Pro22His) c.92C>A (p.Pro31His) c.947C>A (p.Pro316His) c.761C>A (p.Pro254His) c.680C>A (p.Pro227His) c.386C>A (p.Pro129His) c.767C>A (p.Pro256His) | |
2 | g.48688776G>A | CA346750140 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1021C>T (p.Pro341Ser) c.948-637C>T (n.948-637C>T) c.3441+17096G>A (n.3441+17096G>A) c.948-193C>T (n.948-193C>T) c.940C>T (p.Pro314Ser) c.276+17096G>A (n.276+17096G>A) c.*220+5448C>T (n.*220+5448C>T) c.64C>T (p.Pro22Ser) c.91C>T (p.Pro31Ser) c.946C>T (p.Pro316Ser) c.760C>T (p.Pro254Ser) c.679C>T (p.Pro227Ser) c.385C>T (p.Pro129Ser) c.766C>T (p.Pro256Ser) | |
2 | g.48688776G>C | CA346750138 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1021C>G (p.Pro341Ala) c.948-637C>G (n.948-637C>G) c.3441+17096G>C (n.3441+17096G>C) c.948-193C>G (n.948-193C>G) c.940C>G (p.Pro314Ala) c.276+17096G>C (n.276+17096G>C) c.*220+5448C>G (n.*220+5448C>G) c.64C>G (p.Pro22Ala) c.91C>G (p.Pro31Ala) c.946C>G (p.Pro316Ala) c.760C>G (p.Pro254Ala) c.679C>G (p.Pro227Ala) c.385C>G (p.Pro129Ala) c.766C>G (p.Pro256Ala) | |
2 | g.48688776G>T | CA346750135 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1021C>A (p.Pro341Thr) c.948-637C>A (n.948-637C>A) c.3441+17096G>T (n.3441+17096G>T) c.948-193C>A (n.948-193C>A) c.940C>A (p.Pro314Thr) c.276+17096G>T (n.276+17096G>T) c.*220+5448C>A (n.*220+5448C>A) c.64C>A (p.Pro22Thr) c.91C>A (p.Pro31Thr) c.946C>A (p.Pro316Thr) c.760C>A (p.Pro254Thr) c.679C>A (p.Pro227Thr) c.385C>A (p.Pro129Thr) c.766C>A (p.Pro256Thr) | gnomAD v4 |
2 | g.48688777T>A | CA426124846 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1020A>T (p.Thr340=) c.948-638A>T (n.948-638A>T) c.3441+17097T>A (n.3441+17097T>A) c.948-194A>T (n.948-194A>T) c.939A>T (p.Thr313=) c.276+17097T>A (n.276+17097T>A) c.*220+5447A>T (n.*220+5447A>T) c.63A>T (p.Thr21=) c.90A>T (p.Thr30=) c.945A>T (p.Thr315=) c.759A>T (p.Thr253=) c.678A>T (p.Thr226=) c.384A>T (p.Thr128=) c.765A>T (p.Thr255=) | |
2 | g.48688777T>C | CA426124847 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1020A>G (p.Thr340=) c.948-638A>G (n.948-638A>G) c.3441+17097T>C (n.3441+17097T>C) c.948-194A>G (n.948-194A>G) c.939A>G (p.Thr313=) c.276+17097T>C (n.276+17097T>C) c.*220+5447A>G (n.*220+5447A>G) c.63A>G (p.Thr21=) c.90A>G (p.Thr30=) c.945A>G (p.Thr315=) c.759A>G (p.Thr253=) c.678A>G (p.Thr226=) c.384A>G (p.Thr128=) c.765A>G (p.Thr255=) | |
2 | g.48688777T>G | CA426124848 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1020A>C (p.Thr340=) c.948-638A>C (n.948-638A>C) c.3441+17097T>G (n.3441+17097T>G) c.948-194A>C (n.948-194A>C) c.939A>C (p.Thr313=) c.276+17097T>G (n.276+17097T>G) c.*220+5447A>C (n.*220+5447A>C) c.63A>C (p.Thr21=) c.90A>C (p.Thr30=) c.945A>C (p.Thr315=) c.759A>C (p.Thr253=) c.678A>C (p.Thr226=) c.384A>C (p.Thr128=) c.765A>C (p.Thr255=) | |
2 | g.48688778G>A | CA346750144 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1019C>T (p.Thr340Ile) c.948-639C>T (n.948-639C>T) c.3441+17098G>A (n.3441+17098G>A) c.948-195C>T (n.948-195C>T) c.938C>T (p.Thr313Ile) c.276+17098G>A (n.276+17098G>A) c.*220+5446C>T (n.*220+5446C>T) c.62C>T (p.Thr21Ile) c.89C>T (p.Thr30Ile) c.944C>T (p.Thr315Ile) c.758C>T (p.Thr253Ile) c.677C>T (p.Thr226Ile) c.383C>T (p.Thr128Ile) c.764C>T (p.Thr255Ile) | dbSNP gnomAD v4 |
2 | g.48688778G>C | CA346750147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1019C>G (p.Thr340Arg) c.948-639C>G (n.948-639C>G) c.3441+17098G>C (n.3441+17098G>C) c.948-195C>G (n.948-195C>G) c.938C>G (p.Thr313Arg) c.276+17098G>C (n.276+17098G>C) c.*220+5446C>G (n.*220+5446C>G) c.62C>G (p.Thr21Arg) c.89C>G (p.Thr30Arg) c.944C>G (p.Thr315Arg) c.758C>G (p.Thr253Arg) c.677C>G (p.Thr226Arg) c.383C>G (p.Thr128Arg) c.764C>G (p.Thr255Arg) | |
2 | g.48688778G= | CA1248601266 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1019C= (p.Thr340=) c.948-639C= (n.948-639C=) c.3441+17098G= (n.3441+17098G=) c.948-195C= (n.948-195C=) c.938C= (p.Thr313=) c.276+17098G= (n.276+17098G=) c.*220+5446C= (n.*220+5446C=) c.62C= (p.Thr21=) c.89C= (p.Thr30=) c.944C= (p.Thr315=) c.758C= (p.Thr253=) c.677C= (p.Thr226=) c.383C= (p.Thr128=) c.764C= (p.Thr255=) | |
2 | g.48688778G>T | CA346750150 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1019C>A (p.Thr340Lys) c.948-639C>A (n.948-639C>A) c.3441+17098G>T (n.3441+17098G>T) c.948-195C>A (n.948-195C>A) c.938C>A (p.Thr313Lys) c.276+17098G>T (n.276+17098G>T) c.*220+5446C>A (n.*220+5446C>A) c.62C>A (p.Thr21Lys) c.89C>A (p.Thr30Lys) c.944C>A (p.Thr315Lys) c.758C>A (p.Thr253Lys) c.677C>A (p.Thr226Lys) c.383C>A (p.Thr128Lys) c.764C>A (p.Thr255Lys) | |
2 | g.48688779T>A | CA346750153 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1018A>T (p.Thr340Ser) c.948-640A>T (n.948-640A>T) c.3441+17099T>A (n.3441+17099T>A) c.948-196A>T (n.948-196A>T) c.937A>T (p.Thr313Ser) c.276+17099T>A (n.276+17099T>A) c.*220+5445A>T (n.*220+5445A>T) c.61A>T (p.Thr21Ser) c.88A>T (p.Thr30Ser) c.943A>T (p.Thr315Ser) c.757A>T (p.Thr253Ser) c.676A>T (p.Thr226Ser) c.382A>T (p.Thr128Ser) c.763A>T (p.Thr255Ser) | |
2 | g.48688779T>C | CA46753401 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1018A>G (p.Thr340Ala) c.948-640A>G (n.948-640A>G) c.3441+17099T>C (n.3441+17099T>C) c.948-196A>G (n.948-196A>G) c.937A>G (p.Thr313Ala) c.276+17099T>C (n.276+17099T>C) c.*220+5445A>G (n.*220+5445A>G) c.61A>G (p.Thr21Ala) c.88A>G (p.Thr30Ala) c.943A>G (p.Thr315Ala) c.757A>G (p.Thr253Ala) c.676A>G (p.Thr226Ala) c.382A>G (p.Thr128Ala) c.763A>G (p.Thr255Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688779T>G | CA346750156 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1018A>C (p.Thr340Pro) c.948-640A>C (n.948-640A>C) c.3441+17099T>G (n.3441+17099T>G) c.948-196A>C (n.948-196A>C) c.937A>C (p.Thr313Pro) c.276+17099T>G (n.276+17099T>G) c.*220+5445A>C (n.*220+5445A>C) c.61A>C (p.Thr21Pro) c.88A>C (p.Thr30Pro) c.943A>C (p.Thr315Pro) c.757A>C (p.Thr253Pro) c.676A>C (p.Thr226Pro) c.382A>C (p.Thr128Pro) c.763A>C (p.Thr255Pro) | |
2 | g.48688779T= | CA1248601267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1018A= (p.Thr340=) c.948-640A= (n.948-640A=) c.3441+17099T= (n.3441+17099T=) c.948-196A= (n.948-196A=) c.937A= (p.Thr313=) c.276+17099T= (n.276+17099T=) c.*220+5445A= (n.*220+5445A=) c.61A= (p.Thr21=) c.88A= (p.Thr30=) c.943A= (p.Thr315=) c.757A= (p.Thr253=) c.676A= (p.Thr226=) c.382A= (p.Thr128=) c.763A= (p.Thr255=) | |
2 | g.48688780C>A | CA346750160 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1017G>T (p.Lys339Asn) c.948-641G>T (n.948-641G>T) c.3441+17100C>A (n.3441+17100C>A) c.948-197G>T (n.948-197G>T) c.936G>T (p.Lys312Asn) c.276+17100C>A (n.276+17100C>A) c.*220+5444G>T (n.*220+5444G>T) c.60G>T (p.Lys20Asn) c.87G>T (p.Lys29Asn) c.942G>T (p.Lys314Asn) c.756G>T (p.Lys252Asn) c.675G>T (p.Lys225Asn) c.381G>T (p.Lys127Asn) c.762G>T (p.Lys254Asn) | |
2 | g.48688780C>G | CA346750158 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1017G>C (p.Lys339Asn) c.948-641G>C (n.948-641G>C) c.3441+17100C>G (n.3441+17100C>G) c.948-197G>C (n.948-197G>C) c.936G>C (p.Lys312Asn) c.276+17100C>G (n.276+17100C>G) c.*220+5444G>C (n.*220+5444G>C) c.60G>C (p.Lys20Asn) c.87G>C (p.Lys29Asn) c.942G>C (p.Lys314Asn) c.756G>C (p.Lys252Asn) c.675G>C (p.Lys225Asn) c.381G>C (p.Lys127Asn) c.762G>C (p.Lys254Asn) | gnomAD v4 COSMIC |
2 | g.48688780C>T | CA426124849 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1017G>A (p.Lys339=) c.948-641G>A (n.948-641G>A) c.3441+17100C>T (n.3441+17100C>T) c.948-197G>A (n.948-197G>A) c.936G>A (p.Lys312=) c.276+17100C>T (n.276+17100C>T) c.*220+5444G>A (n.*220+5444G>A) c.60G>A (p.Lys20=) c.87G>A (p.Lys29=) c.942G>A (p.Lys314=) c.756G>A (p.Lys252=) c.675G>A (p.Lys225=) c.381G>A (p.Lys127=) c.762G>A (p.Lys254=) | |
2 | g.48688781T>A | CA346750163 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1016A>T (p.Lys339Met) c.948-642A>T (n.948-642A>T) c.3441+17101T>A (n.3441+17101T>A) c.948-198A>T (n.948-198A>T) c.935A>T (p.Lys312Met) c.276+17101T>A (n.276+17101T>A) c.*220+5443A>T (n.*220+5443A>T) c.59A>T (p.Lys20Met) c.86A>T (p.Lys29Met) c.941A>T (p.Lys314Met) c.755A>T (p.Lys252Met) c.674A>T (p.Lys225Met) c.380A>T (p.Lys127Met) c.761A>T (p.Lys254Met) | COSMIC |
2 | g.48688781T>C | CA1653095 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1016A>G (p.Lys339Arg) c.948-642A>G (n.948-642A>G) c.3441+17101T>C (n.3441+17101T>C) c.948-198A>G (n.948-198A>G) c.935A>G (p.Lys312Arg) c.276+17101T>C (n.276+17101T>C) c.*220+5443A>G (n.*220+5443A>G) c.59A>G (p.Lys20Arg) c.86A>G (p.Lys29Arg) c.941A>G (p.Lys314Arg) c.755A>G (p.Lys252Arg) c.674A>G (p.Lys225Arg) c.380A>G (p.Lys127Arg) c.761A>G (p.Lys254Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688781T>G | CA346750166 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1016A>C (p.Lys339Thr) c.948-642A>C (n.948-642A>C) c.3441+17101T>G (n.3441+17101T>G) c.948-198A>C (n.948-198A>C) c.935A>C (p.Lys312Thr) c.276+17101T>G (n.276+17101T>G) c.*220+5443A>C (n.*220+5443A>C) c.59A>C (p.Lys20Thr) c.86A>C (p.Lys29Thr) c.941A>C (p.Lys314Thr) c.755A>C (p.Lys252Thr) c.674A>C (p.Lys225Thr) c.380A>C (p.Lys127Thr) c.761A>C (p.Lys254Thr) | |
2 | g.48688781T= | CA1248601268 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1016A= (p.Lys339=) c.948-642A= (n.948-642A=) c.3441+17101T= (n.3441+17101T=) c.948-198A= (n.948-198A=) c.935A= (p.Lys312=) c.276+17101T= (n.276+17101T=) c.*220+5443A= (n.*220+5443A=) c.59A= (p.Lys20=) c.86A= (p.Lys29=) c.941A= (p.Lys314=) c.755A= (p.Lys252=) c.674A= (p.Lys225=) c.380A= (p.Lys127=) c.761A= (p.Lys254=) | |
2 | g.48688782T>A | CA346750168 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1015A>T (p.Lys339Ter) c.948-643A>T (n.948-643A>T) c.3441+17102T>A (n.3441+17102T>A) c.948-199A>T (n.948-199A>T) c.934A>T (p.Lys312Ter) c.276+17102T>A (n.276+17102T>A) c.*220+5442A>T (n.*220+5442A>T) c.58A>T (p.Lys20Ter) c.85A>T (p.Lys29Ter) c.940A>T (p.Lys314Ter) c.754A>T (p.Lys252Ter) c.673A>T (p.Lys225Ter) c.379A>T (p.Lys127Ter) c.760A>T (p.Lys254Ter) | |
2 | g.48688782T>C | CA346750170 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1015A>G (p.Lys339Glu) c.948-643A>G (n.948-643A>G) c.3441+17102T>C (n.3441+17102T>C) c.948-199A>G (n.948-199A>G) c.934A>G (p.Lys312Glu) c.276+17102T>C (n.276+17102T>C) c.*220+5442A>G (n.*220+5442A>G) c.58A>G (p.Lys20Glu) c.85A>G (p.Lys29Glu) c.940A>G (p.Lys314Glu) c.754A>G (p.Lys252Glu) c.673A>G (p.Lys225Glu) c.379A>G (p.Lys127Glu) c.760A>G (p.Lys254Glu) | |
2 | g.48688782T>G | CA346750173 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1015A>C (p.Lys339Gln) c.948-643A>C (n.948-643A>C) c.3441+17102T>G (n.3441+17102T>G) c.948-199A>C (n.948-199A>C) c.934A>C (p.Lys312Gln) c.276+17102T>G (n.276+17102T>G) c.*220+5442A>C (n.*220+5442A>C) c.58A>C (p.Lys20Gln) c.85A>C (p.Lys29Gln) c.940A>C (p.Lys314Gln) c.754A>C (p.Lys252Gln) c.673A>C (p.Lys225Gln) c.379A>C (p.Lys127Gln) c.760A>C (p.Lys254Gln) | |
2 | g.48688783G>A | CA426124852 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1014C>T (p.Pro338=) c.948-644C>T (n.948-644C>T) c.3441+17103G>A (n.3441+17103G>A) c.948-200C>T (n.948-200C>T) c.933C>T (p.Pro311=) c.276+17103G>A (n.276+17103G>A) c.*220+5441C>T (n.*220+5441C>T) c.57C>T (p.Pro19=) c.84C>T (p.Pro28=) c.939C>T (p.Pro313=) c.753C>T (p.Pro251=) c.672C>T (p.Pro224=) c.378C>T (p.Pro126=) c.759C>T (p.Pro253=) | |
2 | g.48688783G>C | CA426124850 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1014C>G (p.Pro338=) c.948-644C>G (n.948-644C>G) c.3441+17103G>C (n.3441+17103G>C) c.948-200C>G (n.948-200C>G) c.933C>G (p.Pro311=) c.276+17103G>C (n.276+17103G>C) c.*220+5441C>G (n.*220+5441C>G) c.57C>G (p.Pro19=) c.84C>G (p.Pro28=) c.939C>G (p.Pro313=) c.753C>G (p.Pro251=) c.672C>G (p.Pro224=) c.378C>G (p.Pro126=) c.759C>G (p.Pro253=) | |
2 | g.48688783G>T | CA426124851 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1014C>A (p.Pro338=) c.948-644C>A (n.948-644C>A) c.3441+17103G>T (n.3441+17103G>T) c.948-200C>A (n.948-200C>A) c.933C>A (p.Pro311=) c.276+17103G>T (n.276+17103G>T) c.*220+5441C>A (n.*220+5441C>A) c.57C>A (p.Pro19=) c.84C>A (p.Pro28=) c.939C>A (p.Pro313=) c.753C>A (p.Pro251=) c.672C>A (p.Pro224=) c.378C>A (p.Pro126=) c.759C>A (p.Pro253=) | |
2 | g.48688785del | CA2658992091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1014del (p.Lys339ArgfsTer27) c.948-644del (n.948-644del) c.3441+17105del (n.3441+17105del) c.948-200del (n.948-200del) c.933del (p.Lys312ArgfsTer27) c.276+17105del (n.276+17105del) c.*220+5441del (n.*220+5441del) c.57del (p.Lys20ArgfsTer27) c.84del (p.Lys29ArgfsTer27) c.939del (p.Lys314ArgfsTer27) c.753del (p.Lys252ArgfsTer27) c.672del (p.Lys225ArgfsTer27) c.378del (p.Lys127ArgfsTer27) c.759del (p.Lys254ArgfsTer27) | gnomAD v4 |
2 | g.48688784G>A | CA346750177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1013C>T (p.Pro338Leu) c.948-645C>T (n.948-645C>T) c.3441+17104G>A (n.3441+17104G>A) c.948-201C>T (n.948-201C>T) c.932C>T (p.Pro311Leu) c.276+17104G>A (n.276+17104G>A) c.*220+5440C>T (n.*220+5440C>T) c.56C>T (p.Pro19Leu) c.83C>T (p.Pro28Leu) c.938C>T (p.Pro313Leu) c.752C>T (p.Pro251Leu) c.671C>T (p.Pro224Leu) c.377C>T (p.Pro126Leu) c.758C>T (p.Pro253Leu) | |
2 | g.48688784G>C | CA346750180 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1013C>G (p.Pro338Arg) c.948-645C>G (n.948-645C>G) c.3441+17104G>C (n.3441+17104G>C) c.948-201C>G (n.948-201C>G) c.932C>G (p.Pro311Arg) c.276+17104G>C (n.276+17104G>C) c.*220+5440C>G (n.*220+5440C>G) c.56C>G (p.Pro19Arg) c.83C>G (p.Pro28Arg) c.938C>G (p.Pro313Arg) c.752C>G (p.Pro251Arg) c.671C>G (p.Pro224Arg) c.377C>G (p.Pro126Arg) c.758C>G (p.Pro253Arg) | |
2 | g.48688784G>T | CA346750179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1013C>A (p.Pro338His) c.948-645C>A (n.948-645C>A) c.3441+17104G>T (n.3441+17104G>T) c.948-201C>A (n.948-201C>A) c.932C>A (p.Pro311His) c.276+17104G>T (n.276+17104G>T) c.*220+5440C>A (n.*220+5440C>A) c.56C>A (p.Pro19His) c.83C>A (p.Pro28His) c.938C>A (p.Pro313His) c.752C>A (p.Pro251His) c.671C>A (p.Pro224His) c.377C>A (p.Pro126His) c.758C>A (p.Pro253His) | |
2 | g.48688785G>A | CA346750183 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1012C>T (p.Pro338Ser) c.948-646C>T (n.948-646C>T) c.3441+17105G>A (n.3441+17105G>A) c.948-202C>T (n.948-202C>T) c.931C>T (p.Pro311Ser) c.276+17105G>A (n.276+17105G>A) c.*220+5439C>T (n.*220+5439C>T) c.55C>T (p.Pro19Ser) c.82C>T (p.Pro28Ser) c.937C>T (p.Pro313Ser) c.751C>T (p.Pro251Ser) c.670C>T (p.Pro224Ser) c.376C>T (p.Pro126Ser) c.757C>T (p.Pro253Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688785G>C | CA346750186 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1012C>G (p.Pro338Ala) c.948-646C>G (n.948-646C>G) c.3441+17105G>C (n.3441+17105G>C) c.948-202C>G (n.948-202C>G) c.931C>G (p.Pro311Ala) c.276+17105G>C (n.276+17105G>C) c.*220+5439C>G (n.*220+5439C>G) c.55C>G (p.Pro19Ala) c.82C>G (p.Pro28Ala) c.937C>G (p.Pro313Ala) c.751C>G (p.Pro251Ala) c.670C>G (p.Pro224Ala) c.376C>G (p.Pro126Ala) c.757C>G (p.Pro253Ala) | |
2 | g.48688785G= | CA1248601269 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1012C= (p.Pro338=) c.948-646C= (n.948-646C=) c.3441+17105G= (n.3441+17105G=) c.948-202C= (n.948-202C=) c.931C= (p.Pro311=) c.276+17105G= (n.276+17105G=) c.*220+5439C= (n.*220+5439C=) c.55C= (p.Pro19=) c.82C= (p.Pro28=) c.937C= (p.Pro313=) c.751C= (p.Pro251=) c.670C= (p.Pro224=) c.376C= (p.Pro126=) c.757C= (p.Pro253=) | |
2 | g.48688785G>T | CA346750188 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1012C>A (p.Pro338Thr) c.948-646C>A (n.948-646C>A) c.3441+17105G>T (n.3441+17105G>T) c.948-202C>A (n.948-202C>A) c.931C>A (p.Pro311Thr) c.276+17105G>T (n.276+17105G>T) c.*220+5439C>A (n.*220+5439C>A) c.55C>A (p.Pro19Thr) c.82C>A (p.Pro28Thr) c.937C>A (p.Pro313Thr) c.751C>A (p.Pro251Thr) c.670C>A (p.Pro224Thr) c.376C>A (p.Pro126Thr) c.757C>A (p.Pro253Thr) | gnomAD v4 |
2 | g.48688786T>A | CA346750191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1011A>T (p.Leu337Phe) c.948-647A>T (n.948-647A>T) c.3441+17106T>A (n.3441+17106T>A) c.948-203A>T (n.948-203A>T) c.930A>T (p.Leu310Phe) c.276+17106T>A (n.276+17106T>A) c.*220+5438A>T (n.*220+5438A>T) c.54A>T (p.Leu18Phe) c.81A>T (p.Leu27Phe) c.936A>T (p.Leu312Phe) c.750A>T (p.Leu250Phe) c.669A>T (p.Leu223Phe) c.375A>T (p.Leu125Phe) c.756A>T (p.Leu252Phe) | |
2 | g.48688786T>C | CA426124853 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1011A>G (p.Leu337=) c.948-647A>G (n.948-647A>G) c.3441+17106T>C (n.3441+17106T>C) c.948-203A>G (n.948-203A>G) c.930A>G (p.Leu310=) c.276+17106T>C (n.276+17106T>C) c.*220+5438A>G (n.*220+5438A>G) c.54A>G (p.Leu18=) c.81A>G (p.Leu27=) c.936A>G (p.Leu312=) c.750A>G (p.Leu250=) c.669A>G (p.Leu223=) c.375A>G (p.Leu125=) c.756A>G (p.Leu252=) | |
2 | g.48688786T>G | CA346750192 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1011A>C (p.Leu337Phe) c.948-647A>C (n.948-647A>C) c.3441+17106T>G (n.3441+17106T>G) c.948-203A>C (n.948-203A>C) c.930A>C (p.Leu310Phe) c.276+17106T>G (n.276+17106T>G) c.*220+5438A>C (n.*220+5438A>C) c.54A>C (p.Leu18Phe) c.81A>C (p.Leu27Phe) c.936A>C (p.Leu312Phe) c.750A>C (p.Leu250Phe) c.669A>C (p.Leu223Phe) c.375A>C (p.Leu125Phe) c.756A>C (p.Leu252Phe) | |
2 | g.48688787A= | CA1248601270 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1010T= (p.Leu337=) c.948-648T= (n.948-648T=) c.3441+17107A= (n.3441+17107A=) c.948-204T= (n.948-204T=) c.929T= (p.Leu310=) c.276+17107A= (n.276+17107A=) c.*220+5437T= (n.*220+5437T=) c.53T= (p.Leu18=) c.80T= (p.Leu27=) c.935T= (p.Leu312=) c.749T= (p.Leu250=) c.668T= (p.Leu223=) c.374T= (p.Leu125=) c.755T= (p.Leu252=) | |
2 | g.48688787A>C | CA346750195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1010T>G (p.Leu337Ter) c.948-648T>G (n.948-648T>G) c.3441+17107A>C (n.3441+17107A>C) c.948-204T>G (n.948-204T>G) c.929T>G (p.Leu310Ter) c.276+17107A>C (n.276+17107A>C) c.*220+5437T>G (n.*220+5437T>G) c.53T>G (p.Leu18Ter) c.80T>G (p.Leu27Ter) c.935T>G (p.Leu312Ter) c.749T>G (p.Leu250Ter) c.668T>G (p.Leu223Ter) c.374T>G (p.Leu125Ter) c.755T>G (p.Leu252Ter) | |
2 | g.48688787A>G | CA1653096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1010T>C (p.Leu337Ser) c.948-648T>C (n.948-648T>C) c.3441+17107A>G (n.3441+17107A>G) c.948-204T>C (n.948-204T>C) c.929T>C (p.Leu310Ser) c.276+17107A>G (n.276+17107A>G) c.*220+5437T>C (n.*220+5437T>C) c.53T>C (p.Leu18Ser) c.80T>C (p.Leu27Ser) c.935T>C (p.Leu312Ser) c.749T>C (p.Leu250Ser) c.668T>C (p.Leu223Ser) c.374T>C (p.Leu125Ser) c.755T>C (p.Leu252Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688787A>T | CA346750199 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1010T>A (p.Leu337Ter) c.948-648T>A (n.948-648T>A) c.3441+17107A>T (n.3441+17107A>T) c.948-204T>A (n.948-204T>A) c.929T>A (p.Leu310Ter) c.276+17107A>T (n.276+17107A>T) c.*220+5437T>A (n.*220+5437T>A) c.53T>A (p.Leu18Ter) c.80T>A (p.Leu27Ter) c.935T>A (p.Leu312Ter) c.749T>A (p.Leu250Ter) c.668T>A (p.Leu223Ter) c.374T>A (p.Leu125Ter) c.755T>A (p.Leu252Ter) | |
2 | g.48688788A>C | CA346750201 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1009T>G (p.Leu337Val) c.948-649T>G (n.948-649T>G) c.3441+17108A>C (n.3441+17108A>C) c.948-205T>G (n.948-205T>G) c.928T>G (p.Leu310Val) c.276+17108A>C (n.276+17108A>C) c.*220+5436T>G (n.*220+5436T>G) c.52T>G (p.Leu18Val) c.79T>G (p.Leu27Val) c.934T>G (p.Leu312Val) c.748T>G (p.Leu250Val) c.667T>G (p.Leu223Val) c.373T>G (p.Leu125Val) c.754T>G (p.Leu252Val) | |
2 | g.48688788A>G | CA426124854 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1009T>C (p.Leu337=) c.948-649T>C (n.948-649T>C) c.3441+17108A>G (n.3441+17108A>G) c.948-205T>C (n.948-205T>C) c.928T>C (p.Leu310=) c.276+17108A>G (n.276+17108A>G) c.*220+5436T>C (n.*220+5436T>C) c.52T>C (p.Leu18=) c.79T>C (p.Leu27=) c.934T>C (p.Leu312=) c.748T>C (p.Leu250=) c.667T>C (p.Leu223=) c.373T>C (p.Leu125=) c.754T>C (p.Leu252=) | COSMIC |
2 | g.48688788A>T | CA346750204 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1009T>A (p.Leu337Ile) c.948-649T>A (n.948-649T>A) c.3441+17108A>T (n.3441+17108A>T) c.948-205T>A (n.948-205T>A) c.928T>A (p.Leu310Ile) c.276+17108A>T (n.276+17108A>T) c.*220+5436T>A (n.*220+5436T>A) c.52T>A (p.Leu18Ile) c.79T>A (p.Leu27Ile) c.934T>A (p.Leu312Ile) c.748T>A (p.Leu250Ile) c.667T>A (p.Leu223Ile) c.373T>A (p.Leu125Ile) c.754T>A (p.Leu252Ile) | |
2 | g.48688789G>A | CA46753416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1008C>T (p.Cys336=) c.948-650C>T (n.948-650C>T) c.3441+17109G>A (n.3441+17109G>A) c.948-206C>T (n.948-206C>T) c.927C>T (p.Cys309=) c.276+17109G>A (n.276+17109G>A) c.*220+5435C>T (n.*220+5435C>T) c.51C>T (p.Cys17=) c.78C>T (p.Cys26=) c.933C>T (p.Cys311=) c.747C>T (p.Cys249=) c.666C>T (p.Cys222=) c.372C>T (p.Cys124=) c.753C>T (p.Cys251=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688789G>C | CA346750211 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1008C>G (p.Cys336Trp) c.948-650C>G (n.948-650C>G) c.3441+17109G>C (n.3441+17109G>C) c.948-206C>G (n.948-206C>G) c.927C>G (p.Cys309Trp) c.276+17109G>C (n.276+17109G>C) c.*220+5435C>G (n.*220+5435C>G) c.51C>G (p.Cys17Trp) c.78C>G (p.Cys26Trp) c.933C>G (p.Cys311Trp) c.747C>G (p.Cys249Trp) c.666C>G (p.Cys222Trp) c.372C>G (p.Cys124Trp) c.753C>G (p.Cys251Trp) | |
2 | g.48688789G= | CA1248601271 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1008C= (p.Cys336=) c.948-650C= (n.948-650C=) c.3441+17109G= (n.3441+17109G=) c.948-206C= (n.948-206C=) c.927C= (p.Cys309=) c.276+17109G= (n.276+17109G=) c.*220+5435C= (n.*220+5435C=) c.51C= (p.Cys17=) c.78C= (p.Cys26=) c.933C= (p.Cys311=) c.747C= (p.Cys249=) c.666C= (p.Cys222=) c.372C= (p.Cys124=) c.753C= (p.Cys251=) | |
2 | g.48688789G>T | CA346750208 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1008C>A (p.Cys336Ter) c.948-650C>A (n.948-650C>A) c.3441+17109G>T (n.3441+17109G>T) c.948-206C>A (n.948-206C>A) c.927C>A (p.Cys309Ter) c.276+17109G>T (n.276+17109G>T) c.*220+5435C>A (n.*220+5435C>A) c.51C>A (p.Cys17Ter) c.78C>A (p.Cys26Ter) c.933C>A (p.Cys311Ter) c.747C>A (p.Cys249Ter) c.666C>A (p.Cys222Ter) c.372C>A (p.Cys124Ter) c.753C>A (p.Cys251Ter) | |
2 | g.48688790C>A | CA346750214 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1007G>T (p.Cys336Phe) c.948-651G>T (n.948-651G>T) c.3441+17110C>A (n.3441+17110C>A) c.948-207G>T (n.948-207G>T) c.926G>T (p.Cys309Phe) c.276+17110C>A (n.276+17110C>A) c.*220+5434G>T (n.*220+5434G>T) c.50G>T (p.Cys17Phe) c.77G>T (p.Cys26Phe) c.932G>T (p.Cys311Phe) c.746G>T (p.Cys249Phe) c.665G>T (p.Cys222Phe) c.371G>T (p.Cys124Phe) c.752G>T (p.Cys251Phe) | |
2 | g.48688790C>G | CA346750218 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1007G>C (p.Cys336Ser) c.948-651G>C (n.948-651G>C) c.3441+17110C>G (n.3441+17110C>G) c.948-207G>C (n.948-207G>C) c.926G>C (p.Cys309Ser) c.276+17110C>G (n.276+17110C>G) c.*220+5434G>C (n.*220+5434G>C) c.50G>C (p.Cys17Ser) c.77G>C (p.Cys26Ser) c.932G>C (p.Cys311Ser) c.746G>C (p.Cys249Ser) c.665G>C (p.Cys222Ser) c.371G>C (p.Cys124Ser) c.752G>C (p.Cys251Ser) | |
2 | g.48688790C>T | CA346750216 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1007G>A (p.Cys336Tyr) c.948-651G>A (n.948-651G>A) c.3441+17110C>T (n.3441+17110C>T) c.948-207G>A (n.948-207G>A) c.926G>A (p.Cys309Tyr) c.276+17110C>T (n.276+17110C>T) c.*220+5434G>A (n.*220+5434G>A) c.50G>A (p.Cys17Tyr) c.77G>A (p.Cys26Tyr) c.932G>A (p.Cys311Tyr) c.746G>A (p.Cys249Tyr) c.665G>A (p.Cys222Tyr) c.371G>A (p.Cys124Tyr) c.752G>A (p.Cys251Tyr) | gnomAD v4 |
2 | g.48688791A>C | CA346750221 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1006T>G (p.Cys336Gly) c.948-652T>G (n.948-652T>G) c.3441+17111A>C (n.3441+17111A>C) c.948-208T>G (n.948-208T>G) c.925T>G (p.Cys309Gly) c.276+17111A>C (n.276+17111A>C) c.*220+5433T>G (n.*220+5433T>G) c.49T>G (p.Cys17Gly) c.76T>G (p.Cys26Gly) c.931T>G (p.Cys311Gly) c.745T>G (p.Cys249Gly) c.664T>G (p.Cys222Gly) c.370T>G (p.Cys124Gly) c.751T>G (p.Cys251Gly) | |
2 | g.48688791A>G | CA346750223 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1006T>C (p.Cys336Arg) c.948-652T>C (n.948-652T>C) c.3441+17111A>G (n.3441+17111A>G) c.948-208T>C (n.948-208T>C) c.925T>C (p.Cys309Arg) c.276+17111A>G (n.276+17111A>G) c.*220+5433T>C (n.*220+5433T>C) c.49T>C (p.Cys17Arg) c.76T>C (p.Cys26Arg) c.931T>C (p.Cys311Arg) c.745T>C (p.Cys249Arg) c.664T>C (p.Cys222Arg) c.370T>C (p.Cys124Arg) c.751T>C (p.Cys251Arg) | |
2 | g.48688791A>T | CA346750225 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1006T>A (p.Cys336Ser) c.948-652T>A (n.948-652T>A) c.3441+17111A>T (n.3441+17111A>T) c.948-208T>A (n.948-208T>A) c.925T>A (p.Cys309Ser) c.276+17111A>T (n.276+17111A>T) c.*220+5433T>A (n.*220+5433T>A) c.49T>A (p.Cys17Ser) c.76T>A (p.Cys26Ser) c.931T>A (p.Cys311Ser) c.745T>A (p.Cys249Ser) c.664T>A (p.Cys222Ser) c.370T>A (p.Cys124Ser) c.751T>A (p.Cys251Ser) | |
2 | g.48688792G>A | CA426124855 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1005C>T (p.Phe335=) c.948-653C>T (n.948-653C>T) c.3441+17112G>A (n.3441+17112G>A) c.948-209C>T (n.948-209C>T) c.924C>T (p.Phe308=) c.276+17112G>A (n.276+17112G>A) c.*220+5432C>T (n.*220+5432C>T) c.48C>T (p.Phe16=) c.75C>T (p.Phe25=) c.930C>T (p.Phe310=) c.744C>T (p.Phe248=) c.663C>T (p.Phe221=) c.369C>T (p.Phe123=) c.750C>T (p.Phe250=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688792G>C | CA346750228 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1005C>G (p.Phe335Leu) c.948-653C>G (n.948-653C>G) c.3441+17112G>C (n.3441+17112G>C) c.948-209C>G (n.948-209C>G) c.924C>G (p.Phe308Leu) c.276+17112G>C (n.276+17112G>C) c.*220+5432C>G (n.*220+5432C>G) c.48C>G (p.Phe16Leu) c.75C>G (p.Phe25Leu) c.930C>G (p.Phe310Leu) c.744C>G (p.Phe248Leu) c.663C>G (p.Phe221Leu) c.369C>G (p.Phe123Leu) c.750C>G (p.Phe250Leu) | |
2 | g.48688792G= | CA1248601272 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1005C= (p.Phe335=) c.948-653C= (n.948-653C=) c.3441+17112G= (n.3441+17112G=) c.948-209C= (n.948-209C=) c.924C= (p.Phe308=) c.276+17112G= (n.276+17112G=) c.*220+5432C= (n.*220+5432C=) c.48C= (p.Phe16=) c.75C= (p.Phe25=) c.930C= (p.Phe310=) c.744C= (p.Phe248=) c.663C= (p.Phe221=) c.369C= (p.Phe123=) c.750C= (p.Phe250=) | |
2 | g.48688792G>T | CA346750230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1005C>A (p.Phe335Leu) c.948-653C>A (n.948-653C>A) c.3441+17112G>T (n.3441+17112G>T) c.948-209C>A (n.948-209C>A) c.924C>A (p.Phe308Leu) c.276+17112G>T (n.276+17112G>T) c.*220+5432C>A (n.*220+5432C>A) c.48C>A (p.Phe16Leu) c.75C>A (p.Phe25Leu) c.930C>A (p.Phe310Leu) c.744C>A (p.Phe248Leu) c.663C>A (p.Phe221Leu) c.369C>A (p.Phe123Leu) c.750C>A (p.Phe250Leu) | COSMIC |
2 | g.48688793A>C | CA346750233 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1004T>G (p.Phe335Cys) c.948-654T>G (n.948-654T>G) c.3441+17113A>C (n.3441+17113A>C) c.948-210T>G (n.948-210T>G) c.923T>G (p.Phe308Cys) c.276+17113A>C (n.276+17113A>C) c.*220+5431T>G (n.*220+5431T>G) c.47T>G (p.Phe16Cys) c.74T>G (p.Phe25Cys) c.929T>G (p.Phe310Cys) c.743T>G (p.Phe248Cys) c.662T>G (p.Phe221Cys) c.368T>G (p.Phe123Cys) c.749T>G (p.Phe250Cys) | |
2 | g.48688793A>G | CA346750236 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1004T>C (p.Phe335Ser) c.948-654T>C (n.948-654T>C) c.3441+17113A>G (n.3441+17113A>G) c.948-210T>C (n.948-210T>C) c.923T>C (p.Phe308Ser) c.276+17113A>G (n.276+17113A>G) c.*220+5431T>C (n.*220+5431T>C) c.47T>C (p.Phe16Ser) c.74T>C (p.Phe25Ser) c.929T>C (p.Phe310Ser) c.743T>C (p.Phe248Ser) c.662T>C (p.Phe221Ser) c.368T>C (p.Phe123Ser) c.749T>C (p.Phe250Ser) | gnomAD v4 |
2 | g.48688793A>T | CA346750238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1004T>A (p.Phe335Tyr) c.948-654T>A (n.948-654T>A) c.3441+17113A>T (n.3441+17113A>T) c.948-210T>A (n.948-210T>A) c.923T>A (p.Phe308Tyr) c.276+17113A>T (n.276+17113A>T) c.*220+5431T>A (n.*220+5431T>A) c.47T>A (p.Phe16Tyr) c.74T>A (p.Phe25Tyr) c.929T>A (p.Phe310Tyr) c.743T>A (p.Phe248Tyr) c.662T>A (p.Phe221Tyr) c.368T>A (p.Phe123Tyr) c.749T>A (p.Phe250Tyr) | |
2 | g.48688794A>C | CA346750239 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1003T>G (p.Phe335Val) c.948-655T>G (n.948-655T>G) c.3441+17114A>C (n.3441+17114A>C) c.948-211T>G (n.948-211T>G) c.922T>G (p.Phe308Val) c.276+17114A>C (n.276+17114A>C) c.*220+5430T>G (n.*220+5430T>G) c.46T>G (p.Phe16Val) c.73T>G (p.Phe25Val) c.928T>G (p.Phe310Val) c.742T>G (p.Phe248Val) c.661T>G (p.Phe221Val) c.367T>G (p.Phe123Val) c.748T>G (p.Phe250Val) | |
2 | g.48688794A>G | CA346750241 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1003T>C (p.Phe335Leu) c.948-655T>C (n.948-655T>C) c.3441+17114A>G (n.3441+17114A>G) c.948-211T>C (n.948-211T>C) c.922T>C (p.Phe308Leu) c.276+17114A>G (n.276+17114A>G) c.*220+5430T>C (n.*220+5430T>C) c.46T>C (p.Phe16Leu) c.73T>C (p.Phe25Leu) c.928T>C (p.Phe310Leu) c.742T>C (p.Phe248Leu) c.661T>C (p.Phe221Leu) c.367T>C (p.Phe123Leu) c.748T>C (p.Phe250Leu) | |
2 | g.48688794A>T | CA346750242 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1003T>A (p.Phe335Ile) c.948-655T>A (n.948-655T>A) c.3441+17114A>T (n.3441+17114A>T) c.948-211T>A (n.948-211T>A) c.922T>A (p.Phe308Ile) c.276+17114A>T (n.276+17114A>T) c.*220+5430T>A (n.*220+5430T>A) c.46T>A (p.Phe16Ile) c.73T>A (p.Phe25Ile) c.928T>A (p.Phe310Ile) c.742T>A (p.Phe248Ile) c.661T>A (p.Phe221Ile) c.367T>A (p.Phe123Ile) c.748T>A (p.Phe250Ile) | |
2 | g.48688795A= | CA1248601273 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1002T= (p.Gly334=) c.948-656T= (n.948-656T=) c.3441+17115A= (n.3441+17115A=) c.948-212T= (n.948-212T=) c.921T= (p.Gly307=) c.276+17115A= (n.276+17115A=) c.*220+5429T= (n.*220+5429T=) c.45T= (p.Gly15=) c.72T= (p.Gly24=) c.927T= (p.Gly309=) c.741T= (p.Gly247=) c.660T= (p.Gly220=) c.366T= (p.Gly122=) c.747T= (p.Gly249=) | |
2 | g.48688795A>C | CA426124856 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1002T>G (p.Gly334=) c.948-656T>G (n.948-656T>G) c.3441+17115A>C (n.3441+17115A>C) c.948-212T>G (n.948-212T>G) c.921T>G (p.Gly307=) c.276+17115A>C (n.276+17115A>C) c.*220+5429T>G (n.*220+5429T>G) c.45T>G (p.Gly15=) c.72T>G (p.Gly24=) c.927T>G (p.Gly309=) c.741T>G (p.Gly247=) c.660T>G (p.Gly220=) c.366T>G (p.Gly122=) c.747T>G (p.Gly249=) | dbSNP |
2 | g.48688795A>G | CA426124857 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1002T>C (p.Gly334=) c.948-656T>C (n.948-656T>C) c.3441+17115A>G (n.3441+17115A>G) c.948-212T>C (n.948-212T>C) c.921T>C (p.Gly307=) c.276+17115A>G (n.276+17115A>G) c.*220+5429T>C (n.*220+5429T>C) c.45T>C (p.Gly15=) c.72T>C (p.Gly24=) c.927T>C (p.Gly309=) c.741T>C (p.Gly247=) c.660T>C (p.Gly220=) c.366T>C (p.Gly122=) c.747T>C (p.Gly249=) | |
2 | g.48688795A>T | CA426124858 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1002T>A (p.Gly334=) c.948-656T>A (n.948-656T>A) c.3441+17115A>T (n.3441+17115A>T) c.948-212T>A (n.948-212T>A) c.921T>A (p.Gly307=) c.276+17115A>T (n.276+17115A>T) c.*220+5429T>A (n.*220+5429T>A) c.45T>A (p.Gly15=) c.72T>A (p.Gly24=) c.927T>A (p.Gly309=) c.741T>A (p.Gly247=) c.660T>A (p.Gly220=) c.366T>A (p.Gly122=) c.747T>A (p.Gly249=) | |
2 | g.48688796C>A | CA346750247 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1001G>T (p.Gly334Val) c.948-657G>T (n.948-657G>T) c.3441+17116C>A (n.3441+17116C>A) c.948-213G>T (n.948-213G>T) c.920G>T (p.Gly307Val) c.276+17116C>A (n.276+17116C>A) c.*220+5428G>T (n.*220+5428G>T) c.44G>T (p.Gly15Val) c.71G>T (p.Gly24Val) c.926G>T (p.Gly309Val) c.740G>T (p.Gly247Val) c.659G>T (p.Gly220Val) c.365G>T (p.Gly122Val) c.746G>T (p.Gly249Val) | |
2 | g.48688796C= | CA1248601274 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1001G= (p.Gly334=) c.948-657G= (n.948-657G=) c.3441+17116C= (n.3441+17116C=) c.948-213G= (n.948-213G=) c.920G= (p.Gly307=) c.276+17116C= (n.276+17116C=) c.*220+5428G= (n.*220+5428G=) c.44G= (p.Gly15=) c.71G= (p.Gly24=) c.926G= (p.Gly309=) c.740G= (p.Gly247=) c.659G= (p.Gly220=) c.365G= (p.Gly122=) c.746G= (p.Gly249=) | |
2 | g.48688796C>G | CA346750244 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1001G>C (p.Gly334Ala) c.948-657G>C (n.948-657G>C) c.3441+17116C>G (n.3441+17116C>G) c.948-213G>C (n.948-213G>C) c.920G>C (p.Gly307Ala) c.276+17116C>G (n.276+17116C>G) c.*220+5428G>C (n.*220+5428G>C) c.44G>C (p.Gly15Ala) c.71G>C (p.Gly24Ala) c.926G>C (p.Gly309Ala) c.740G>C (p.Gly247Ala) c.659G>C (p.Gly220Ala) c.365G>C (p.Gly122Ala) c.746G>C (p.Gly249Ala) | |
2 | g.48688796C>T | CA1653097 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1001G>A (p.Gly334Asp) c.948-657G>A (n.948-657G>A) c.3441+17116C>T (n.3441+17116C>T) c.948-213G>A (n.948-213G>A) c.920G>A (p.Gly307Asp) c.276+17116C>T (n.276+17116C>T) c.*220+5428G>A (n.*220+5428G>A) c.44G>A (p.Gly15Asp) c.71G>A (p.Gly24Asp) c.926G>A (p.Gly309Asp) c.740G>A (p.Gly247Asp) c.659G>A (p.Gly220Asp) c.365G>A (p.Gly122Asp) c.746G>A (p.Gly249Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688797C>A | CA346750250 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1000G>T (p.Gly334Cys) c.948-658G>T (n.948-658G>T) c.3441+17117C>A (n.3441+17117C>A) c.948-214G>T (n.948-214G>T) c.919G>T (p.Gly307Cys) c.276+17117C>A (n.276+17117C>A) c.*220+5427G>T (n.*220+5427G>T) c.43G>T (p.Gly15Cys) c.70G>T (p.Gly24Cys) c.925G>T (p.Gly309Cys) c.739G>T (p.Gly247Cys) c.658G>T (p.Gly220Cys) c.364G>T (p.Gly122Cys) c.745G>T (p.Gly249Cys) | dbSNP |
2 | g.48688797C= | CA1248601275 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1000G= (p.Gly334=) c.948-658G= (n.948-658G=) c.3441+17117C= (n.3441+17117C=) c.948-214G= (n.948-214G=) c.919G= (p.Gly307=) c.276+17117C= (n.276+17117C=) c.*220+5427G= (n.*220+5427G=) c.43G= (p.Gly15=) c.70G= (p.Gly24=) c.925G= (p.Gly309=) c.739G= (p.Gly247=) c.658G= (p.Gly220=) c.364G= (p.Gly122=) c.745G= (p.Gly249=) | |
2 | g.48688797C>G | CA346750252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1000G>C (p.Gly334Arg) c.948-658G>C (n.948-658G>C) c.3441+17117C>G (n.3441+17117C>G) c.948-214G>C (n.948-214G>C) c.919G>C (p.Gly307Arg) c.276+17117C>G (n.276+17117C>G) c.*220+5427G>C (n.*220+5427G>C) c.43G>C (p.Gly15Arg) c.70G>C (p.Gly24Arg) c.925G>C (p.Gly309Arg) c.739G>C (p.Gly247Arg) c.658G>C (p.Gly220Arg) c.364G>C (p.Gly122Arg) c.745G>C (p.Gly249Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688797C>T | CA46753428 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1000G>A (p.Gly334Ser) c.948-658G>A (n.948-658G>A) c.3441+17117C>T (n.3441+17117C>T) c.948-214G>A (n.948-214G>A) c.919G>A (p.Gly307Ser) c.276+17117C>T (n.276+17117C>T) c.*220+5427G>A (n.*220+5427G>A) c.43G>A (p.Gly15Ser) c.70G>A (p.Gly24Ser) c.925G>A (p.Gly309Ser) c.739G>A (p.Gly247Ser) c.658G>A (p.Gly220Ser) c.364G>A (p.Gly122Ser) c.745G>A (p.Gly249Ser) | dbSNP |
2 | g.48688798A>C | CA346750254 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.999T>G (p.Tyr333Ter) c.948-659T>G (n.948-659T>G) c.3441+17118A>C (n.3441+17118A>C) c.948-215T>G (n.948-215T>G) c.918T>G (p.Tyr306Ter) c.276+17118A>C (n.276+17118A>C) c.*220+5426T>G (n.*220+5426T>G) c.42T>G (p.Tyr14Ter) c.69T>G (p.Tyr23Ter) c.924T>G (p.Tyr308Ter) c.738T>G (p.Tyr246Ter) c.657T>G (p.Tyr219Ter) c.363T>G (p.Tyr121Ter) c.744T>G (p.Tyr248Ter) | |
2 | g.48688798A>G | CA426124859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.999T>C (p.Tyr333=) c.948-659T>C (n.948-659T>C) c.3441+17118A>G (n.3441+17118A>G) c.948-215T>C (n.948-215T>C) c.918T>C (p.Tyr306=) c.276+17118A>G (n.276+17118A>G) c.*220+5426T>C (n.*220+5426T>C) c.42T>C (p.Tyr14=) c.69T>C (p.Tyr23=) c.924T>C (p.Tyr308=) c.738T>C (p.Tyr246=) c.657T>C (p.Tyr219=) c.363T>C (p.Tyr121=) c.744T>C (p.Tyr248=) | |
2 | g.48688798A>T | CA346750256 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.999T>A (p.Tyr333Ter) c.948-659T>A (n.948-659T>A) c.3441+17118A>T (n.3441+17118A>T) c.948-215T>A (n.948-215T>A) c.918T>A (p.Tyr306Ter) c.276+17118A>T (n.276+17118A>T) c.*220+5426T>A (n.*220+5426T>A) c.42T>A (p.Tyr14Ter) c.69T>A (p.Tyr23Ter) c.924T>A (p.Tyr308Ter) c.738T>A (p.Tyr246Ter) c.657T>A (p.Tyr219Ter) c.363T>A (p.Tyr121Ter) c.744T>A (p.Tyr248Ter) | |
2 | g.48688799T>A | CA346750259 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.998A>T (p.Tyr333Phe) c.948-660A>T (n.948-660A>T) c.3441+17119T>A (n.3441+17119T>A) c.948-216A>T (n.948-216A>T) c.917A>T (p.Tyr306Phe) c.276+17119T>A (n.276+17119T>A) c.*220+5425A>T (n.*220+5425A>T) c.41A>T (p.Tyr14Phe) c.68A>T (p.Tyr23Phe) c.923A>T (p.Tyr308Phe) c.737A>T (p.Tyr246Phe) c.656A>T (p.Tyr219Phe) c.362A>T (p.Tyr121Phe) c.743A>T (p.Tyr248Phe) | |
2 | g.48688799T>C | CA346750261 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.998A>G (p.Tyr333Cys) c.948-660A>G (n.948-660A>G) c.3441+17119T>C (n.3441+17119T>C) c.948-216A>G (n.948-216A>G) c.917A>G (p.Tyr306Cys) c.276+17119T>C (n.276+17119T>C) c.*220+5425A>G (n.*220+5425A>G) c.41A>G (p.Tyr14Cys) c.68A>G (p.Tyr23Cys) c.923A>G (p.Tyr308Cys) c.737A>G (p.Tyr246Cys) c.656A>G (p.Tyr219Cys) c.362A>G (p.Tyr121Cys) c.743A>G (p.Tyr248Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688799T>G | CA346750263 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.998A>C (p.Tyr333Ser) c.948-660A>C (n.948-660A>C) c.3441+17119T>G (n.3441+17119T>G) c.948-216A>C (n.948-216A>C) c.917A>C (p.Tyr306Ser) c.276+17119T>G (n.276+17119T>G) c.*220+5425A>C (n.*220+5425A>C) c.41A>C (p.Tyr14Ser) c.68A>C (p.Tyr23Ser) c.923A>C (p.Tyr308Ser) c.737A>C (p.Tyr246Ser) c.656A>C (p.Tyr219Ser) c.362A>C (p.Tyr121Ser) c.743A>C (p.Tyr248Ser) | |
2 | g.48688799T= | CA1248601276 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.998A= (p.Tyr333=) c.948-660A= (n.948-660A=) c.3441+17119T= (n.3441+17119T=) c.948-216A= (n.948-216A=) c.917A= (p.Tyr306=) c.276+17119T= (n.276+17119T=) c.*220+5425A= (n.*220+5425A=) c.41A= (p.Tyr14=) c.68A= (p.Tyr23=) c.923A= (p.Tyr308=) c.737A= (p.Tyr246=) c.656A= (p.Tyr219=) c.362A= (p.Tyr121=) c.743A= (p.Tyr248=) | |
2 | g.48688800A>C | CA346750266 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.997T>G (p.Tyr333Asp) c.948-661T>G (n.948-661T>G) c.3441+17120A>C (n.3441+17120A>C) c.948-217T>G (n.948-217T>G) c.916T>G (p.Tyr306Asp) c.276+17120A>C (n.276+17120A>C) c.*220+5424T>G (n.*220+5424T>G) c.40T>G (p.Tyr14Asp) c.67T>G (p.Tyr23Asp) c.922T>G (p.Tyr308Asp) c.736T>G (p.Tyr246Asp) c.655T>G (p.Tyr219Asp) c.361T>G (p.Tyr121Asp) c.742T>G (p.Tyr248Asp) | |
2 | g.48688800A>G | CA346750268 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.997T>C (p.Tyr333His) c.948-661T>C (n.948-661T>C) c.3441+17120A>G (n.3441+17120A>G) c.948-217T>C (n.948-217T>C) c.916T>C (p.Tyr306His) c.276+17120A>G (n.276+17120A>G) c.*220+5424T>C (n.*220+5424T>C) c.40T>C (p.Tyr14His) c.67T>C (p.Tyr23His) c.922T>C (p.Tyr308His) c.736T>C (p.Tyr246His) c.655T>C (p.Tyr219His) c.361T>C (p.Tyr121His) c.742T>C (p.Tyr248His) | |
2 | g.48688800A>T | CA346750270 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.997T>A (p.Tyr333Asn) c.948-661T>A (n.948-661T>A) c.3441+17120A>T (n.3441+17120A>T) c.948-217T>A (n.948-217T>A) c.916T>A (p.Tyr306Asn) c.276+17120A>T (n.276+17120A>T) c.*220+5424T>A (n.*220+5424T>A) c.40T>A (p.Tyr14Asn) c.67T>A (p.Tyr23Asn) c.922T>A (p.Tyr308Asn) c.736T>A (p.Tyr246Asn) c.655T>A (p.Tyr219Asn) c.361T>A (p.Tyr121Asn) c.742T>A (p.Tyr248Asn) | gnomAD v4 |
2 | g.48688801T>A | CA46753437 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.996A>T (p.Glu332Asp) c.948-662A>T (n.948-662A>T) c.3441+17121T>A (n.3441+17121T>A) c.948-218A>T (n.948-218A>T) c.915A>T (p.Glu305Asp) c.276+17121T>A (n.276+17121T>A) c.*220+5423A>T (n.*220+5423A>T) c.39A>T (p.Glu13Asp) c.66A>T (p.Glu22Asp) c.921A>T (p.Glu307Asp) c.735A>T (p.Glu245Asp) c.654A>T (p.Glu218Asp) c.360A>T (p.Glu120Asp) c.741A>T (p.Glu247Asp) | dbSNP |
2 | g.48688801T>C | CA1653098 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.996A>G (p.Glu332=) c.948-662A>G (n.948-662A>G) c.3441+17121T>C (n.3441+17121T>C) c.948-218A>G (n.948-218A>G) c.915A>G (p.Glu305=) c.276+17121T>C (n.276+17121T>C) c.*220+5423A>G (n.*220+5423A>G) c.39A>G (p.Glu13=) c.66A>G (p.Glu22=) c.921A>G (p.Glu307=) c.735A>G (p.Glu245=) c.654A>G (p.Glu218=) c.360A>G (p.Glu120=) c.741A>G (p.Glu247=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688801T>G | CA346750273 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.996A>C (p.Glu332Asp) c.948-662A>C (n.948-662A>C) c.3441+17121T>G (n.3441+17121T>G) c.948-218A>C (n.948-218A>C) c.915A>C (p.Glu305Asp) c.276+17121T>G (n.276+17121T>G) c.*220+5423A>C (n.*220+5423A>C) c.39A>C (p.Glu13Asp) c.66A>C (p.Glu22Asp) c.921A>C (p.Glu307Asp) c.735A>C (p.Glu245Asp) c.654A>C (p.Glu218Asp) c.360A>C (p.Glu120Asp) c.741A>C (p.Glu247Asp) | |
2 | g.48688801T= | CA1248601277 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.996A= (p.Glu332=) c.948-662A= (n.948-662A=) c.3441+17121T= (n.3441+17121T=) c.948-218A= (n.948-218A=) c.915A= (p.Glu305=) c.276+17121T= (n.276+17121T=) c.*220+5423A= (n.*220+5423A=) c.39A= (p.Glu13=) c.66A= (p.Glu22=) c.921A= (p.Glu307=) c.735A= (p.Glu245=) c.654A= (p.Glu218=) c.360A= (p.Glu120=) c.741A= (p.Glu247=) | |
2 | g.48688802T>A | CA346750278 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.995A>T (p.Glu332Val) c.948-663A>T (n.948-663A>T) c.3441+17122T>A (n.3441+17122T>A) c.948-219A>T (n.948-219A>T) c.914A>T (p.Glu305Val) c.276+17122T>A (n.276+17122T>A) c.*220+5422A>T (n.*220+5422A>T) c.38A>T (p.Glu13Val) c.65A>T (p.Glu22Val) c.920A>T (p.Glu307Val) c.734A>T (p.Glu245Val) c.653A>T (p.Glu218Val) c.359A>T (p.Glu120Val) c.740A>T (p.Glu247Val) | |
2 | g.48688802T>C | CA346750281 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.995A>G (p.Glu332Gly) c.948-663A>G (n.948-663A>G) c.3441+17122T>C (n.3441+17122T>C) c.948-219A>G (n.948-219A>G) c.914A>G (p.Glu305Gly) c.276+17122T>C (n.276+17122T>C) c.*220+5422A>G (n.*220+5422A>G) c.38A>G (p.Glu13Gly) c.65A>G (p.Glu22Gly) c.920A>G (p.Glu307Gly) c.734A>G (p.Glu245Gly) c.653A>G (p.Glu218Gly) c.359A>G (p.Glu120Gly) c.740A>G (p.Glu247Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688802T>G | CA346750283 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.995A>C (p.Glu332Ala) c.948-663A>C (n.948-663A>C) c.3441+17122T>G (n.3441+17122T>G) c.948-219A>C (n.948-219A>C) c.914A>C (p.Glu305Ala) c.276+17122T>G (n.276+17122T>G) c.*220+5422A>C (n.*220+5422A>C) c.38A>C (p.Glu13Ala) c.65A>C (p.Glu22Ala) c.920A>C (p.Glu307Ala) c.734A>C (p.Glu245Ala) c.653A>C (p.Glu218Ala) c.359A>C (p.Glu120Ala) c.740A>C (p.Glu247Ala) | |
2 | g.48688802T= | CA1248601278 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.995A= (p.Glu332=) c.948-663A= (n.948-663A=) c.3441+17122T= (n.3441+17122T=) c.948-219A= (n.948-219A=) c.914A= (p.Glu305=) c.276+17122T= (n.276+17122T=) c.*220+5422A= (n.*220+5422A=) c.38A= (p.Glu13=) c.65A= (p.Glu22=) c.920A= (p.Glu307=) c.734A= (p.Glu245=) c.653A= (p.Glu218=) c.359A= (p.Glu120=) c.740A= (p.Glu247=) | |
2 | g.48688803C>A | CA346750287 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.994G>T (p.Glu332Ter) c.948-664G>T (n.948-664G>T) c.3441+17123C>A (n.3441+17123C>A) c.948-220G>T (n.948-220G>T) c.913G>T (p.Glu305Ter) c.276+17123C>A (n.276+17123C>A) c.*220+5421G>T (n.*220+5421G>T) c.37G>T (p.Glu13Ter) c.64G>T (p.Glu22Ter) c.919G>T (p.Glu307Ter) c.733G>T (p.Glu245Ter) c.652G>T (p.Glu218Ter) c.358G>T (p.Glu120Ter) c.739G>T (p.Glu247Ter) | |
2 | g.48688803C>G | CA346750288 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.994G>C (p.Glu332Gln) c.948-664G>C (n.948-664G>C) c.3441+17123C>G (n.3441+17123C>G) c.948-220G>C (n.948-220G>C) c.913G>C (p.Glu305Gln) c.276+17123C>G (n.276+17123C>G) c.*220+5421G>C (n.*220+5421G>C) c.37G>C (p.Glu13Gln) c.64G>C (p.Glu22Gln) c.919G>C (p.Glu307Gln) c.733G>C (p.Glu245Gln) c.652G>C (p.Glu218Gln) c.358G>C (p.Glu120Gln) c.739G>C (p.Glu247Gln) | COSMIC |
2 | g.48688803C>T | CA346750290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.994G>A (p.Glu332Lys) c.948-664G>A (n.948-664G>A) c.3441+17123C>T (n.3441+17123C>T) c.948-220G>A (n.948-220G>A) c.913G>A (p.Glu305Lys) c.276+17123C>T (n.276+17123C>T) c.*220+5421G>A (n.*220+5421G>A) c.37G>A (p.Glu13Lys) c.64G>A (p.Glu22Lys) c.919G>A (p.Glu307Lys) c.733G>A (p.Glu245Lys) c.652G>A (p.Glu218Lys) c.358G>A (p.Glu120Lys) c.739G>A (p.Glu247Lys) | |
2 | g.48688804A= | CA1248601279 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.993T= (p.Tyr331=) c.948-665T= (n.948-665T=) c.3441+17124A= (n.3441+17124A=) c.948-221T= (n.948-221T=) c.912T= (p.Tyr304=) c.276+17124A= (n.276+17124A=) c.*220+5420T= (n.*220+5420T=) c.36T= (p.Tyr12=) c.63T= (p.Tyr21=) c.918T= (p.Tyr306=) c.732T= (p.Tyr244=) c.651T= (p.Tyr217=) c.357T= (p.Tyr119=) c.738T= (p.Tyr246=) | |
2 | g.48688804A>C | CA346750294 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.993T>G (p.Tyr331Ter) c.948-665T>G (n.948-665T>G) c.3441+17124A>C (n.3441+17124A>C) c.948-221T>G (n.948-221T>G) c.912T>G (p.Tyr304Ter) c.276+17124A>C (n.276+17124A>C) c.*220+5420T>G (n.*220+5420T>G) c.36T>G (p.Tyr12Ter) c.63T>G (p.Tyr21Ter) c.918T>G (p.Tyr306Ter) c.732T>G (p.Tyr244Ter) c.651T>G (p.Tyr217Ter) c.357T>G (p.Tyr119Ter) c.738T>G (p.Tyr246Ter) | |
2 | g.48688804A>G | CA426124860 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.993T>C (p.Tyr331=) c.948-665T>C (n.948-665T>C) c.3441+17124A>G (n.3441+17124A>G) c.948-221T>C (n.948-221T>C) c.912T>C (p.Tyr304=) c.276+17124A>G (n.276+17124A>G) c.*220+5420T>C (n.*220+5420T>C) c.36T>C (p.Tyr12=) c.63T>C (p.Tyr21=) c.918T>C (p.Tyr306=) c.732T>C (p.Tyr244=) c.651T>C (p.Tyr217=) c.357T>C (p.Tyr119=) c.738T>C (p.Tyr246=) | dbSNP gnomAD v4 |
2 | g.48688804A>T | CA346750296 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.993T>A (p.Tyr331Ter) c.948-665T>A (n.948-665T>A) c.3441+17124A>T (n.3441+17124A>T) c.948-221T>A (n.948-221T>A) c.912T>A (p.Tyr304Ter) c.276+17124A>T (n.276+17124A>T) c.*220+5420T>A (n.*220+5420T>A) c.36T>A (p.Tyr12Ter) c.63T>A (p.Tyr21Ter) c.918T>A (p.Tyr306Ter) c.732T>A (p.Tyr244Ter) c.651T>A (p.Tyr217Ter) c.357T>A (p.Tyr119Ter) c.738T>A (p.Tyr246Ter) | ClinVar |
2 | g.48688805T>A | CA346750298 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.992A>T (p.Tyr331Phe) c.948-666A>T (n.948-666A>T) c.3441+17125T>A (n.3441+17125T>A) c.948-222A>T (n.948-222A>T) c.911A>T (p.Tyr304Phe) c.276+17125T>A (n.276+17125T>A) c.*220+5419A>T (n.*220+5419A>T) c.35A>T (p.Tyr12Phe) c.62A>T (p.Tyr21Phe) c.917A>T (p.Tyr306Phe) c.731A>T (p.Tyr244Phe) c.650A>T (p.Tyr217Phe) c.356A>T (p.Tyr119Phe) c.737A>T (p.Tyr246Phe) | |
2 | g.48688805T>C | CA1653099 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.992A>G (p.Tyr331Cys) c.948-666A>G (n.948-666A>G) c.3441+17125T>C (n.3441+17125T>C) c.948-222A>G (n.948-222A>G) c.911A>G (p.Tyr304Cys) c.276+17125T>C (n.276+17125T>C) c.*220+5419A>G (n.*220+5419A>G) c.35A>G (p.Tyr12Cys) c.62A>G (p.Tyr21Cys) c.917A>G (p.Tyr306Cys) c.731A>G (p.Tyr244Cys) c.650A>G (p.Tyr217Cys) c.356A>G (p.Tyr119Cys) c.737A>G (p.Tyr246Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688805T>G | CA346750302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.992A>C (p.Tyr331Ser) c.948-666A>C (n.948-666A>C) c.3441+17125T>G (n.3441+17125T>G) c.948-222A>C (n.948-222A>C) c.911A>C (p.Tyr304Ser) c.276+17125T>G (n.276+17125T>G) c.*220+5419A>C (n.*220+5419A>C) c.35A>C (p.Tyr12Ser) c.62A>C (p.Tyr21Ser) c.917A>C (p.Tyr306Ser) c.731A>C (p.Tyr244Ser) c.650A>C (p.Tyr217Ser) c.356A>C (p.Tyr119Ser) c.737A>C (p.Tyr246Ser) | |
2 | g.48688805T= | CA1248601280 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.992A= (p.Tyr331=) c.948-666A= (n.948-666A=) c.3441+17125T= (n.3441+17125T=) c.948-222A= (n.948-222A=) c.911A= (p.Tyr304=) c.276+17125T= (n.276+17125T=) c.*220+5419A= (n.*220+5419A=) c.35A= (p.Tyr12=) c.62A= (p.Tyr21=) c.917A= (p.Tyr306=) c.731A= (p.Tyr244=) c.650A= (p.Tyr217=) c.356A= (p.Tyr119=) c.737A= (p.Tyr246=) | |
2 | g.48688806A>C | CA346750305 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.991T>G (p.Tyr331Asp) c.948-667T>G (n.948-667T>G) c.3441+17126A>C (n.3441+17126A>C) c.948-223T>G (n.948-223T>G) c.910T>G (p.Tyr304Asp) c.276+17126A>C (n.276+17126A>C) c.*220+5418T>G (n.*220+5418T>G) c.34T>G (p.Tyr12Asp) c.61T>G (p.Tyr21Asp) c.916T>G (p.Tyr306Asp) c.730T>G (p.Tyr244Asp) c.649T>G (p.Tyr217Asp) c.355T>G (p.Tyr119Asp) c.736T>G (p.Tyr246Asp) | |
2 | g.48688806A>G | CA346750307 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.991T>C (p.Tyr331His) c.948-667T>C (n.948-667T>C) c.3441+17126A>G (n.3441+17126A>G) c.948-223T>C (n.948-223T>C) c.910T>C (p.Tyr304His) c.276+17126A>G (n.276+17126A>G) c.*220+5418T>C (n.*220+5418T>C) c.34T>C (p.Tyr12His) c.61T>C (p.Tyr21His) c.916T>C (p.Tyr306His) c.730T>C (p.Tyr244His) c.649T>C (p.Tyr217His) c.355T>C (p.Tyr119His) c.736T>C (p.Tyr246His) | |
2 | g.48688806A>T | CA346750310 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.991T>A (p.Tyr331Asn) c.948-667T>A (n.948-667T>A) c.3441+17126A>T (n.3441+17126A>T) c.948-223T>A (n.948-223T>A) c.910T>A (p.Tyr304Asn) c.276+17126A>T (n.276+17126A>T) c.*220+5418T>A (n.*220+5418T>A) c.34T>A (p.Tyr12Asn) c.61T>A (p.Tyr21Asn) c.916T>A (p.Tyr306Asn) c.730T>A (p.Tyr244Asn) c.649T>A (p.Tyr217Asn) c.355T>A (p.Tyr119Asn) c.736T>A (p.Tyr246Asn) | |
2 | g.48688807G>A | CA426124861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.990C>T (p.Asp330=) c.948-668C>T (n.948-668C>T) c.3441+17127G>A (n.3441+17127G>A) c.948-224C>T (n.948-224C>T) c.909C>T (p.Asp303=) c.276+17127G>A (n.276+17127G>A) c.*220+5417C>T (n.*220+5417C>T) c.33C>T (p.Asp11=) c.60C>T (p.Asp20=) c.915C>T (p.Asp305=) c.729C>T (p.Asp243=) c.648C>T (p.Asp216=) c.354C>T (p.Asp118=) c.735C>T (p.Asp245=) | |
2 | g.48688807G>C | CA346750312 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.990C>G (p.Asp330Glu) c.948-668C>G (n.948-668C>G) c.3441+17127G>C (n.3441+17127G>C) c.948-224C>G (n.948-224C>G) c.909C>G (p.Asp303Glu) c.276+17127G>C (n.276+17127G>C) c.*220+5417C>G (n.*220+5417C>G) c.33C>G (p.Asp11Glu) c.60C>G (p.Asp20Glu) c.915C>G (p.Asp305Glu) c.729C>G (p.Asp243Glu) c.648C>G (p.Asp216Glu) c.354C>G (p.Asp118Glu) c.735C>G (p.Asp245Glu) | |
2 | g.48688807G>T | CA346750315 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.990C>A (p.Asp330Glu) c.948-668C>A (n.948-668C>A) c.3441+17127G>T (n.3441+17127G>T) c.948-224C>A (n.948-224C>A) c.909C>A (p.Asp303Glu) c.276+17127G>T (n.276+17127G>T) c.*220+5417C>A (n.*220+5417C>A) c.33C>A (p.Asp11Glu) c.60C>A (p.Asp20Glu) c.915C>A (p.Asp305Glu) c.729C>A (p.Asp243Glu) c.648C>A (p.Asp216Glu) c.354C>A (p.Asp118Glu) c.735C>A (p.Asp245Glu) | |
2 | g.48688808T>A | CA346750318 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.989A>T (p.Asp330Val) c.948-669A>T (n.948-669A>T) c.3441+17128T>A (n.3441+17128T>A) c.948-225A>T (n.948-225A>T) c.908A>T (p.Asp303Val) c.276+17128T>A (n.276+17128T>A) c.*220+5416A>T (n.*220+5416A>T) c.32A>T (p.Asp11Val) c.59A>T (p.Asp20Val) c.914A>T (p.Asp305Val) c.728A>T (p.Asp243Val) c.647A>T (p.Asp216Val) c.353A>T (p.Asp118Val) c.734A>T (p.Asp245Val) | |
2 | g.48688808T>C | CA1653100 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.989A>G (p.Asp330Gly) c.948-669A>G (n.948-669A>G) c.3441+17128T>C (n.3441+17128T>C) c.948-225A>G (n.948-225A>G) c.908A>G (p.Asp303Gly) c.276+17128T>C (n.276+17128T>C) c.*220+5416A>G (n.*220+5416A>G) c.32A>G (p.Asp11Gly) c.59A>G (p.Asp20Gly) c.914A>G (p.Asp305Gly) c.728A>G (p.Asp243Gly) c.647A>G (p.Asp216Gly) c.353A>G (p.Asp118Gly) c.734A>G (p.Asp245Gly) | dbSNP ExAC gnomAD v2 |
2 | g.48688808T>G | CA346750321 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.989A>C (p.Asp330Ala) c.948-669A>C (n.948-669A>C) c.3441+17128T>G (n.3441+17128T>G) c.948-225A>C (n.948-225A>C) c.908A>C (p.Asp303Ala) c.276+17128T>G (n.276+17128T>G) c.*220+5416A>C (n.*220+5416A>C) c.32A>C (p.Asp11Ala) c.59A>C (p.Asp20Ala) c.914A>C (p.Asp305Ala) c.728A>C (p.Asp243Ala) c.647A>C (p.Asp216Ala) c.353A>C (p.Asp118Ala) c.734A>C (p.Asp245Ala) | |
2 | g.48688808T= | CA1248601281 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.989A= (p.Asp330=) c.948-669A= (n.948-669A=) c.3441+17128T= (n.3441+17128T=) c.948-225A= (n.948-225A=) c.908A= (p.Asp303=) c.276+17128T= (n.276+17128T=) c.*220+5416A= (n.*220+5416A=) c.32A= (p.Asp11=) c.59A= (p.Asp20=) c.914A= (p.Asp305=) c.728A= (p.Asp243=) c.647A= (p.Asp216=) c.353A= (p.Asp118=) c.734A= (p.Asp245=) | |
2 | g.48688809C>A | CA346750324 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.988G>T (p.Asp330Tyr) c.948-670G>T (n.948-670G>T) c.3441+17129C>A (n.3441+17129C>A) c.948-226G>T (n.948-226G>T) c.907G>T (p.Asp303Tyr) c.276+17129C>A (n.276+17129C>A) c.*220+5415G>T (n.*220+5415G>T) c.31G>T (p.Asp11Tyr) c.58G>T (p.Asp20Tyr) c.913G>T (p.Asp305Tyr) c.727G>T (p.Asp243Tyr) c.646G>T (p.Asp216Tyr) c.352G>T (p.Asp118Tyr) c.733G>T (p.Asp245Tyr) | |
2 | g.48688809C>G | CA346750326 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.988G>C (p.Asp330His) c.948-670G>C (n.948-670G>C) c.3441+17129C>G (n.3441+17129C>G) c.948-226G>C (n.948-226G>C) c.907G>C (p.Asp303His) c.276+17129C>G (n.276+17129C>G) c.*220+5415G>C (n.*220+5415G>C) c.31G>C (p.Asp11His) c.58G>C (p.Asp20His) c.913G>C (p.Asp305His) c.727G>C (p.Asp243His) c.646G>C (p.Asp216His) c.352G>C (p.Asp118His) c.733G>C (p.Asp245His) | |
2 | g.48688809C>T | CA346750329 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.988G>A (p.Asp330Asn) c.948-670G>A (n.948-670G>A) c.3441+17129C>T (n.3441+17129C>T) c.948-226G>A (n.948-226G>A) c.907G>A (p.Asp303Asn) c.276+17129C>T (n.276+17129C>T) c.*220+5415G>A (n.*220+5415G>A) c.31G>A (p.Asp11Asn) c.58G>A (p.Asp20Asn) c.913G>A (p.Asp305Asn) c.727G>A (p.Asp243Asn) c.646G>A (p.Asp216Asn) c.352G>A (p.Asp118Asn) c.733G>A (p.Asp245Asn) | |
2 | g.48688810C>A | CA346750332 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.987G>T (p.Trp329Cys) c.948-671G>T (n.948-671G>T) c.3441+17130C>A (n.3441+17130C>A) c.948-227G>T (n.948-227G>T) c.906G>T (p.Trp302Cys) c.276+17130C>A (n.276+17130C>A) c.*220+5414G>T (n.*220+5414G>T) c.30G>T (p.Trp10Cys) c.57G>T (p.Trp19Cys) c.912G>T (p.Trp304Cys) c.726G>T (p.Trp242Cys) c.645G>T (p.Trp215Cys) c.351G>T (p.Trp117Cys) c.732G>T (p.Trp244Cys) | |
2 | g.48688810C= | CA1248601282 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.987G= (p.Trp329=) c.948-671G= (n.948-671G=) c.3441+17130C= (n.3441+17130C=) c.948-227G= (n.948-227G=) c.906G= (p.Trp302=) c.276+17130C= (n.276+17130C=) c.*220+5414G= (n.*220+5414G=) c.30G= (p.Trp10=) c.57G= (p.Trp19=) c.912G= (p.Trp304=) c.726G= (p.Trp242=) c.645G= (p.Trp215=) c.351G= (p.Trp117=) c.732G= (p.Trp244=) | |
2 | g.48688810C>G | CA346750334 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.987G>C (p.Trp329Cys) c.948-671G>C (n.948-671G>C) c.3441+17130C>G (n.3441+17130C>G) c.948-227G>C (n.948-227G>C) c.906G>C (p.Trp302Cys) c.276+17130C>G (n.276+17130C>G) c.*220+5414G>C (n.*220+5414G>C) c.30G>C (p.Trp10Cys) c.57G>C (p.Trp19Cys) c.912G>C (p.Trp304Cys) c.726G>C (p.Trp242Cys) c.645G>C (p.Trp215Cys) c.351G>C (p.Trp117Cys) c.732G>C (p.Trp244Cys) | |
2 | g.48688810C>T | CA346750336 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.987G>A (p.Trp329Ter) c.948-671G>A (n.948-671G>A) c.3441+17130C>T (n.3441+17130C>T) c.948-227G>A (n.948-227G>A) c.906G>A (p.Trp302Ter) c.276+17130C>T (n.276+17130C>T) c.*220+5414G>A (n.*220+5414G>A) c.30G>A (p.Trp10Ter) c.57G>A (p.Trp19Ter) c.912G>A (p.Trp304Ter) c.726G>A (p.Trp242Ter) c.645G>A (p.Trp215Ter) c.351G>A (p.Trp117Ter) c.732G>A (p.Trp244Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688811C>A | CA346750338 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.986G>T (p.Trp329Leu) c.948-672G>T (n.948-672G>T) c.3441+17131C>A (n.3441+17131C>A) c.948-228G>T (n.948-228G>T) c.905G>T (p.Trp302Leu) c.276+17131C>A (n.276+17131C>A) c.*220+5413G>T (n.*220+5413G>T) c.29G>T (p.Trp10Leu) c.56G>T (p.Trp19Leu) c.911G>T (p.Trp304Leu) c.725G>T (p.Trp242Leu) c.644G>T (p.Trp215Leu) c.350G>T (p.Trp117Leu) c.731G>T (p.Trp244Leu) | |
2 | g.48688811C>G | CA346750341 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.986G>C (p.Trp329Ser) c.948-672G>C (n.948-672G>C) c.3441+17131C>G (n.3441+17131C>G) c.948-228G>C (n.948-228G>C) c.905G>C (p.Trp302Ser) c.276+17131C>G (n.276+17131C>G) c.*220+5413G>C (n.*220+5413G>C) c.29G>C (p.Trp10Ser) c.56G>C (p.Trp19Ser) c.911G>C (p.Trp304Ser) c.725G>C (p.Trp242Ser) c.644G>C (p.Trp215Ser) c.350G>C (p.Trp117Ser) c.731G>C (p.Trp244Ser) | |
2 | g.48688811C>T | CA346750343 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.986G>A (p.Trp329Ter) c.948-672G>A (n.948-672G>A) c.3441+17131C>T (n.3441+17131C>T) c.948-228G>A (n.948-228G>A) c.905G>A (p.Trp302Ter) c.276+17131C>T (n.276+17131C>T) c.*220+5413G>A (n.*220+5413G>A) c.29G>A (p.Trp10Ter) c.56G>A (p.Trp19Ter) c.911G>A (p.Trp304Ter) c.725G>A (p.Trp242Ter) c.644G>A (p.Trp215Ter) c.350G>A (p.Trp117Ter) c.731G>A (p.Trp244Ter) | gnomAD v4 |
2 | g.48688812A>C | CA346750344 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.985T>G (p.Trp329Gly) c.948-673T>G (n.948-673T>G) c.3441+17132A>C (n.3441+17132A>C) c.948-229T>G (n.948-229T>G) c.904T>G (p.Trp302Gly) c.276+17132A>C (n.276+17132A>C) c.*220+5412T>G (n.*220+5412T>G) c.28T>G (p.Trp10Gly) c.55T>G (p.Trp19Gly) c.910T>G (p.Trp304Gly) c.724T>G (p.Trp242Gly) c.643T>G (p.Trp215Gly) c.349T>G (p.Trp117Gly) c.730T>G (p.Trp244Gly) | |
2 | g.48688812A>G | CA346750347 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.985T>C (p.Trp329Arg) c.948-673T>C (n.948-673T>C) c.3441+17132A>G (n.3441+17132A>G) c.948-229T>C (n.948-229T>C) c.904T>C (p.Trp302Arg) c.276+17132A>G (n.276+17132A>G) c.*220+5412T>C (n.*220+5412T>C) c.28T>C (p.Trp10Arg) c.55T>C (p.Trp19Arg) c.910T>C (p.Trp304Arg) c.724T>C (p.Trp242Arg) c.643T>C (p.Trp215Arg) c.349T>C (p.Trp117Arg) c.730T>C (p.Trp244Arg) | |
2 | g.48688812A>T | CA346750346 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.985T>A (p.Trp329Arg) c.948-673T>A (n.948-673T>A) c.3441+17132A>T (n.3441+17132A>T) c.948-229T>A (n.948-229T>A) c.904T>A (p.Trp302Arg) c.276+17132A>T (n.276+17132A>T) c.*220+5412T>A (n.*220+5412T>A) c.28T>A (p.Trp10Arg) c.55T>A (p.Trp19Arg) c.910T>A (p.Trp304Arg) c.724T>A (p.Trp242Arg) c.643T>A (p.Trp215Arg) c.349T>A (p.Trp117Arg) c.730T>A (p.Trp244Arg) | |
2 | g.48688813G>A | CA426124862 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.984C>T (p.Gly328=) c.948-674C>T (n.948-674C>T) c.3441+17133G>A (n.3441+17133G>A) c.948-230C>T (n.948-230C>T) c.903C>T (p.Gly301=) c.276+17133G>A (n.276+17133G>A) c.*220+5411C>T (n.*220+5411C>T) c.27C>T (p.Gly9=) c.54C>T (p.Gly18=) c.909C>T (p.Gly303=) c.723C>T (p.Gly241=) c.642C>T (p.Gly214=) c.348C>T (p.Gly116=) c.729C>T (p.Gly243=) | |
2 | g.48688813G>C | CA426124863 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.984C>G (p.Gly328=) c.948-674C>G (n.948-674C>G) c.3441+17133G>C (n.3441+17133G>C) c.948-230C>G (n.948-230C>G) c.903C>G (p.Gly301=) c.276+17133G>C (n.276+17133G>C) c.*220+5411C>G (n.*220+5411C>G) c.27C>G (p.Gly9=) c.54C>G (p.Gly18=) c.909C>G (p.Gly303=) c.723C>G (p.Gly241=) c.642C>G (p.Gly214=) c.348C>G (p.Gly116=) c.729C>G (p.Gly243=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688813G= | CA1248601283 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.984C= (p.Gly328=) c.948-674C= (n.948-674C=) c.3441+17133G= (n.3441+17133G=) c.948-230C= (n.948-230C=) c.903C= (p.Gly301=) c.276+17133G= (n.276+17133G=) c.*220+5411C= (n.*220+5411C=) c.27C= (p.Gly9=) c.54C= (p.Gly18=) c.909C= (p.Gly303=) c.723C= (p.Gly241=) c.642C= (p.Gly214=) c.348C= (p.Gly116=) c.729C= (p.Gly243=) | |
2 | g.48688813G>T | CA426124864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.984C>A (p.Gly328=) c.948-674C>A (n.948-674C>A) c.3441+17133G>T (n.3441+17133G>T) c.948-230C>A (n.948-230C>A) c.903C>A (p.Gly301=) c.276+17133G>T (n.276+17133G>T) c.*220+5411C>A (n.*220+5411C>A) c.27C>A (p.Gly9=) c.54C>A (p.Gly18=) c.909C>A (p.Gly303=) c.723C>A (p.Gly241=) c.642C>A (p.Gly214=) c.348C>A (p.Gly116=) c.729C>A (p.Gly243=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688814C>A | CA346750350 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.983G>T (p.Gly328Val) c.948-675G>T (n.948-675G>T) c.3441+17134C>A (n.3441+17134C>A) c.948-231G>T (n.948-231G>T) c.902G>T (p.Gly301Val) c.276+17134C>A (n.276+17134C>A) c.*220+5410G>T (n.*220+5410G>T) c.26G>T (p.Gly9Val) c.53G>T (p.Gly18Val) c.908G>T (p.Gly303Val) c.722G>T (p.Gly241Val) c.641G>T (p.Gly214Val) c.347G>T (p.Gly116Val) c.728G>T (p.Gly243Val) | |
2 | g.48688814C= | CA1248601284 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.983G= (p.Gly328=) c.948-675G= (n.948-675G=) c.3441+17134C= (n.3441+17134C=) c.948-231G= (n.948-231G=) c.902G= (p.Gly301=) c.276+17134C= (n.276+17134C=) c.*220+5410G= (n.*220+5410G=) c.26G= (p.Gly9=) c.53G= (p.Gly18=) c.908G= (p.Gly303=) c.722G= (p.Gly241=) c.641G= (p.Gly214=) c.347G= (p.Gly116=) c.728G= (p.Gly243=) | |
2 | g.48688814C>G | CA346750355 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.983G>C (p.Gly328Ala) c.948-675G>C (n.948-675G>C) c.3441+17134C>G (n.3441+17134C>G) c.948-231G>C (n.948-231G>C) c.902G>C (p.Gly301Ala) c.276+17134C>G (n.276+17134C>G) c.*220+5410G>C (n.*220+5410G>C) c.26G>C (p.Gly9Ala) c.53G>C (p.Gly18Ala) c.908G>C (p.Gly303Ala) c.722G>C (p.Gly241Ala) c.641G>C (p.Gly214Ala) c.347G>C (p.Gly116Ala) c.728G>C (p.Gly243Ala) | |
2 | g.48688814C>T | CA346750352 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.983G>A (p.Gly328Asp) c.948-675G>A (n.948-675G>A) c.3441+17134C>T (n.3441+17134C>T) c.948-231G>A (n.948-231G>A) c.902G>A (p.Gly301Asp) c.276+17134C>T (n.276+17134C>T) c.*220+5410G>A (n.*220+5410G>A) c.26G>A (p.Gly9Asp) c.53G>A (p.Gly18Asp) c.908G>A (p.Gly303Asp) c.722G>A (p.Gly241Asp) c.641G>A (p.Gly214Asp) c.347G>A (p.Gly116Asp) c.728G>A (p.Gly243Asp) | dbSNP |
2 | g.48688815C>A | CA346750358 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.982G>T (p.Gly328Cys) c.948-676G>T (n.948-676G>T) c.3441+17135C>A (n.3441+17135C>A) c.948-232G>T (n.948-232G>T) c.901G>T (p.Gly301Cys) c.276+17135C>A (n.276+17135C>A) c.*220+5409G>T (n.*220+5409G>T) c.25G>T (p.Gly9Cys) c.52G>T (p.Gly18Cys) c.907G>T (p.Gly303Cys) c.721G>T (p.Gly241Cys) c.640G>T (p.Gly214Cys) c.346G>T (p.Gly116Cys) c.727G>T (p.Gly243Cys) | |
2 | g.48688815C= | CA1248601285 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.982G= (p.Gly328=) c.948-676G= (n.948-676G=) c.3441+17135C= (n.3441+17135C=) c.948-232G= (n.948-232G=) c.901G= (p.Gly301=) c.276+17135C= (n.276+17135C=) c.*220+5409G= (n.*220+5409G=) c.25G= (p.Gly9=) c.52G= (p.Gly18=) c.907G= (p.Gly303=) c.721G= (p.Gly241=) c.640G= (p.Gly214=) c.346G= (p.Gly116=) c.727G= (p.Gly243=) | |
2 | g.48688815C>G | CA1653101 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.982G>C (p.Gly328Arg) c.948-676G>C (n.948-676G>C) c.3441+17135C>G (n.3441+17135C>G) c.948-232G>C (n.948-232G>C) c.901G>C (p.Gly301Arg) c.276+17135C>G (n.276+17135C>G) c.*220+5409G>C (n.*220+5409G>C) c.25G>C (p.Gly9Arg) c.52G>C (p.Gly18Arg) c.907G>C (p.Gly303Arg) c.721G>C (p.Gly241Arg) c.640G>C (p.Gly214Arg) c.346G>C (p.Gly116Arg) c.727G>C (p.Gly243Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688815C>T | CA346750360 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.982G>A (p.Gly328Ser) c.948-676G>A (n.948-676G>A) c.3441+17135C>T (n.3441+17135C>T) c.948-232G>A (n.948-232G>A) c.901G>A (p.Gly301Ser) c.276+17135C>T (n.276+17135C>T) c.*220+5409G>A (n.*220+5409G>A) c.25G>A (p.Gly9Ser) c.52G>A (p.Gly18Ser) c.907G>A (p.Gly303Ser) c.721G>A (p.Gly241Ser) c.640G>A (p.Gly214Ser) c.346G>A (p.Gly116Ser) c.727G>A (p.Gly243Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688816A= | CA1248601286 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.981T= (p.Ser327=) c.948-677T= (n.948-677T=) c.3441+17136A= (n.3441+17136A=) c.948-233T= (n.948-233T=) c.900T= (p.Ser300=) c.276+17136A= (n.276+17136A=) c.*220+5408T= (n.*220+5408T=) c.24T= (p.Ser8=) c.51T= (p.Ser17=) c.906T= (p.Ser302=) c.720T= (p.Ser240=) c.639T= (p.Ser213=) c.345T= (p.Ser115=) c.726T= (p.Ser242=) | |
2 | g.48688816A>C | CA346750365 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.981T>G (p.Ser327Arg) c.948-677T>G (n.948-677T>G) c.3441+17136A>C (n.3441+17136A>C) c.948-233T>G (n.948-233T>G) c.900T>G (p.Ser300Arg) c.276+17136A>C (n.276+17136A>C) c.*220+5408T>G (n.*220+5408T>G) c.24T>G (p.Ser8Arg) c.51T>G (p.Ser17Arg) c.906T>G (p.Ser302Arg) c.720T>G (p.Ser240Arg) c.639T>G (p.Ser213Arg) c.345T>G (p.Ser115Arg) c.726T>G (p.Ser242Arg) | |
2 | g.48688816A>G | CA1653102 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.981T>C (p.Ser327=) c.948-677T>C (n.948-677T>C) c.3441+17136A>G (n.3441+17136A>G) c.948-233T>C (n.948-233T>C) c.900T>C (p.Ser300=) c.276+17136A>G (n.276+17136A>G) c.*220+5408T>C (n.*220+5408T>C) c.24T>C (p.Ser8=) c.51T>C (p.Ser17=) c.906T>C (p.Ser302=) c.720T>C (p.Ser240=) c.639T>C (p.Ser213=) c.345T>C (p.Ser115=) c.726T>C (p.Ser242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688816A>T | CA346750370 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.981T>A (p.Ser327Arg) c.948-677T>A (n.948-677T>A) c.3441+17136A>T (n.3441+17136A>T) c.948-233T>A (n.948-233T>A) c.900T>A (p.Ser300Arg) c.276+17136A>T (n.276+17136A>T) c.*220+5408T>A (n.*220+5408T>A) c.24T>A (p.Ser8Arg) c.51T>A (p.Ser17Arg) c.906T>A (p.Ser302Arg) c.720T>A (p.Ser240Arg) c.639T>A (p.Ser213Arg) c.345T>A (p.Ser115Arg) c.726T>A (p.Ser242Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688817C>A | CA346750372 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.980G>T (p.Ser327Ile) c.948-678G>T (n.948-678G>T) c.3441+17137C>A (n.3441+17137C>A) c.948-234G>T (n.948-234G>T) c.899G>T (p.Ser300Ile) c.276+17137C>A (n.276+17137C>A) c.*220+5407G>T (n.*220+5407G>T) c.23G>T (p.Ser8Ile) c.50G>T (p.Ser17Ile) c.905G>T (p.Ser302Ile) c.719G>T (p.Ser240Ile) c.638G>T (p.Ser213Ile) c.344G>T (p.Ser115Ile) c.725G>T (p.Ser242Ile) | |
2 | g.48688817C>G | CA346750374 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.980G>C (p.Ser327Thr) c.948-678G>C (n.948-678G>C) c.3441+17137C>G (n.3441+17137C>G) c.948-234G>C (n.948-234G>C) c.899G>C (p.Ser300Thr) c.276+17137C>G (n.276+17137C>G) c.*220+5407G>C (n.*220+5407G>C) c.23G>C (p.Ser8Thr) c.50G>C (p.Ser17Thr) c.905G>C (p.Ser302Thr) c.719G>C (p.Ser240Thr) c.638G>C (p.Ser213Thr) c.344G>C (p.Ser115Thr) c.725G>C (p.Ser242Thr) | |
2 | g.48688817C>T | CA346750377 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.980G>A (p.Ser327Asn) c.948-678G>A (n.948-678G>A) c.3441+17137C>T (n.3441+17137C>T) c.948-234G>A (n.948-234G>A) c.899G>A (p.Ser300Asn) c.276+17137C>T (n.276+17137C>T) c.*220+5407G>A (n.*220+5407G>A) c.23G>A (p.Ser8Asn) c.50G>A (p.Ser17Asn) c.905G>A (p.Ser302Asn) c.719G>A (p.Ser240Asn) c.638G>A (p.Ser213Asn) c.344G>A (p.Ser115Asn) c.725G>A (p.Ser242Asn) | |
2 | g.48688818T>A | CA346750380 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.979A>T (p.Ser327Cys) c.948-679A>T (n.948-679A>T) c.3441+17138T>A (n.3441+17138T>A) c.948-235A>T (n.948-235A>T) c.898A>T (p.Ser300Cys) c.276+17138T>A (n.276+17138T>A) c.*220+5406A>T (n.*220+5406A>T) c.22A>T (p.Ser8Cys) c.49A>T (p.Ser17Cys) c.904A>T (p.Ser302Cys) c.718A>T (p.Ser240Cys) c.637A>T (p.Ser213Cys) c.343A>T (p.Ser115Cys) c.724A>T (p.Ser242Cys) | |
2 | g.48688818T>C | CA346750382 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.979A>G (p.Ser327Gly) c.948-679A>G (n.948-679A>G) c.3441+17138T>C (n.3441+17138T>C) c.948-235A>G (n.948-235A>G) c.898A>G (p.Ser300Gly) c.276+17138T>C (n.276+17138T>C) c.*220+5406A>G (n.*220+5406A>G) c.22A>G (p.Ser8Gly) c.49A>G (p.Ser17Gly) c.904A>G (p.Ser302Gly) c.718A>G (p.Ser240Gly) c.637A>G (p.Ser213Gly) c.343A>G (p.Ser115Gly) c.724A>G (p.Ser242Gly) | |
2 | g.48688818T>G | CA346750384 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.979A>C (p.Ser327Arg) c.948-679A>C (n.948-679A>C) c.3441+17138T>G (n.3441+17138T>G) c.948-235A>C (n.948-235A>C) c.898A>C (p.Ser300Arg) c.276+17138T>G (n.276+17138T>G) c.*220+5406A>C (n.*220+5406A>C) c.22A>C (p.Ser8Arg) c.49A>C (p.Ser17Arg) c.904A>C (p.Ser302Arg) c.718A>C (p.Ser240Arg) c.637A>C (p.Ser213Arg) c.343A>C (p.Ser115Arg) c.724A>C (p.Ser242Arg) | |
2 | g.48688819C>A | CA426124866 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.978G>T (p.Leu326=) c.948-680G>T (n.948-680G>T) c.3441+17139C>A (n.3441+17139C>A) c.948-236G>T (n.948-236G>T) c.897G>T (p.Leu299=) c.276+17139C>A (n.276+17139C>A) c.*220+5405G>T (n.*220+5405G>T) c.21G>T (p.Leu7=) c.48G>T (p.Leu16=) c.903G>T (p.Leu301=) c.717G>T (p.Leu239=) c.636G>T (p.Leu212=) c.342G>T (p.Leu114=) c.723G>T (p.Leu241=) | |
2 | g.48688819C= | CA1248601287 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.978G= (p.Leu326=) c.948-680G= (n.948-680G=) c.3441+17139C= (n.3441+17139C=) c.948-236G= (n.948-236G=) c.897G= (p.Leu299=) c.276+17139C= (n.276+17139C=) c.*220+5405G= (n.*220+5405G=) c.21G= (p.Leu7=) c.48G= (p.Leu16=) c.903G= (p.Leu301=) c.717G= (p.Leu239=) c.636G= (p.Leu212=) c.342G= (p.Leu114=) c.723G= (p.Leu241=) | |
2 | g.48688819C>G | CA1653103 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.978G>C (p.Leu326=) c.948-680G>C (n.948-680G>C) c.3441+17139C>G (n.3441+17139C>G) c.948-236G>C (n.948-236G>C) c.897G>C (p.Leu299=) c.276+17139C>G (n.276+17139C>G) c.*220+5405G>C (n.*220+5405G>C) c.21G>C (p.Leu7=) c.48G>C (p.Leu16=) c.903G>C (p.Leu301=) c.717G>C (p.Leu239=) c.636G>C (p.Leu212=) c.342G>C (p.Leu114=) c.723G>C (p.Leu241=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688819C>T | CA426124865 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.978G>A (p.Leu326=) c.948-680G>A (n.948-680G>A) c.3441+17139C>T (n.3441+17139C>T) c.948-236G>A (n.948-236G>A) c.897G>A (p.Leu299=) c.276+17139C>T (n.276+17139C>T) c.*220+5405G>A (n.*220+5405G>A) c.21G>A (p.Leu7=) c.48G>A (p.Leu16=) c.903G>A (p.Leu301=) c.717G>A (p.Leu239=) c.636G>A (p.Leu212=) c.342G>A (p.Leu114=) c.723G>A (p.Leu241=) | |
2 | g.48688820A= | CA1248601288 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.977T= (p.Leu326=) c.948-681T= (n.948-681T=) c.3441+17140A= (n.3441+17140A=) c.948-237T= (n.948-237T=) c.896T= (p.Leu299=) c.276+17140A= (n.276+17140A=) c.*220+5404T= (n.*220+5404T=) c.20T= (p.Leu7=) c.47T= (p.Leu16=) c.902T= (p.Leu301=) c.716T= (p.Leu239=) c.635T= (p.Leu212=) c.341T= (p.Leu114=) c.722T= (p.Leu241=) | |
2 | g.48688820A>C | CA346750387 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.977T>G (p.Leu326Arg) c.948-681T>G (n.948-681T>G) c.3441+17140A>C (n.3441+17140A>C) c.948-237T>G (n.948-237T>G) c.896T>G (p.Leu299Arg) c.276+17140A>C (n.276+17140A>C) c.*220+5404T>G (n.*220+5404T>G) c.20T>G (p.Leu7Arg) c.47T>G (p.Leu16Arg) c.902T>G (p.Leu301Arg) c.716T>G (p.Leu239Arg) c.635T>G (p.Leu212Arg) c.341T>G (p.Leu114Arg) c.722T>G (p.Leu241Arg) | |
2 | g.48688820A>G | CA346750389 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.977T>C (p.Leu326Pro) c.948-681T>C (n.948-681T>C) c.3441+17140A>G (n.3441+17140A>G) c.948-237T>C (n.948-237T>C) c.896T>C (p.Leu299Pro) c.276+17140A>G (n.276+17140A>G) c.*220+5404T>C (n.*220+5404T>C) c.20T>C (p.Leu7Pro) c.47T>C (p.Leu16Pro) c.902T>C (p.Leu301Pro) c.716T>C (p.Leu239Pro) c.635T>C (p.Leu212Pro) c.341T>C (p.Leu114Pro) c.722T>C (p.Leu241Pro) | |
2 | g.48688820A>T | CA46753482 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.977T>A (p.Leu326Gln) c.948-681T>A (n.948-681T>A) c.3441+17140A>T (n.3441+17140A>T) c.948-237T>A (n.948-237T>A) c.896T>A (p.Leu299Gln) c.276+17140A>T (n.276+17140A>T) c.*220+5404T>A (n.*220+5404T>A) c.20T>A (p.Leu7Gln) c.47T>A (p.Leu16Gln) c.902T>A (p.Leu301Gln) c.716T>A (p.Leu239Gln) c.635T>A (p.Leu212Gln) c.341T>A (p.Leu114Gln) c.722T>A (p.Leu241Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688821G>A | CA426124867 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.976C>T (p.Leu326=) c.948-682C>T (n.948-682C>T) c.3441+17141G>A (n.3441+17141G>A) c.948-238C>T (n.948-238C>T) c.895C>T (p.Leu299=) c.276+17141G>A (n.276+17141G>A) c.*220+5403C>T (n.*220+5403C>T) c.19C>T (p.Leu7=) c.46C>T (p.Leu16=) c.901C>T (p.Leu301=) c.715C>T (p.Leu239=) c.634C>T (p.Leu212=) c.340C>T (p.Leu114=) c.721C>T (p.Leu241=) | |
2 | g.48688821G>C | CA346750391 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.976C>G (p.Leu326Val) c.948-682C>G (n.948-682C>G) c.3441+17141G>C (n.3441+17141G>C) c.948-238C>G (n.948-238C>G) c.895C>G (p.Leu299Val) c.276+17141G>C (n.276+17141G>C) c.*220+5403C>G (n.*220+5403C>G) c.19C>G (p.Leu7Val) c.46C>G (p.Leu16Val) c.901C>G (p.Leu301Val) c.715C>G (p.Leu239Val) c.634C>G (p.Leu212Val) c.340C>G (p.Leu114Val) c.721C>G (p.Leu241Val) | gnomAD v4 |
2 | g.48688821G>T | CA346750392 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.976C>A (p.Leu326Met) c.948-682C>A (n.948-682C>A) c.3441+17141G>T (n.3441+17141G>T) c.948-238C>A (n.948-238C>A) c.895C>A (p.Leu299Met) c.276+17141G>T (n.276+17141G>T) c.*220+5403C>A (n.*220+5403C>A) c.19C>A (p.Leu7Met) c.46C>A (p.Leu16Met) c.901C>A (p.Leu301Met) c.715C>A (p.Leu239Met) c.634C>A (p.Leu212Met) c.340C>A (p.Leu114Met) c.721C>A (p.Leu241Met) | |
2 | g.48688822T>A | CA346750394 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.975A>T (p.Glu325Asp) c.948-683A>T (n.948-683A>T) c.3441+17142T>A (n.3441+17142T>A) c.948-239A>T (n.948-239A>T) c.894A>T (p.Glu298Asp) c.276+17142T>A (n.276+17142T>A) c.*220+5402A>T (n.*220+5402A>T) c.18A>T (p.Glu6Asp) c.45A>T (p.Glu15Asp) c.900A>T (p.Glu300Asp) c.714A>T (p.Glu238Asp) c.633A>T (p.Glu211Asp) c.339A>T (p.Glu113Asp) c.720A>T (p.Glu240Asp) | |
2 | g.48688822T>C | CA426124868 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.975A>G (p.Glu325=) c.948-683A>G (n.948-683A>G) c.3441+17142T>C (n.3441+17142T>C) c.948-239A>G (n.948-239A>G) c.894A>G (p.Glu298=) c.276+17142T>C (n.276+17142T>C) c.*220+5402A>G (n.*220+5402A>G) c.18A>G (p.Glu6=) c.45A>G (p.Glu15=) c.900A>G (p.Glu300=) c.714A>G (p.Glu238=) c.633A>G (p.Glu211=) c.339A>G (p.Glu113=) c.720A>G (p.Glu240=) | gnomAD v4 |
2 | g.48688822T>G | CA346750396 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.975A>C (p.Glu325Asp) c.948-683A>C (n.948-683A>C) c.3441+17142T>G (n.3441+17142T>G) c.948-239A>C (n.948-239A>C) c.894A>C (p.Glu298Asp) c.276+17142T>G (n.276+17142T>G) c.*220+5402A>C (n.*220+5402A>C) c.18A>C (p.Glu6Asp) c.45A>C (p.Glu15Asp) c.900A>C (p.Glu300Asp) c.714A>C (p.Glu238Asp) c.633A>C (p.Glu211Asp) c.339A>C (p.Glu113Asp) c.720A>C (p.Glu240Asp) | |
2 | g.48688823T>A | CA346750398 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.974A>T (p.Glu325Val) c.948-684A>T (n.948-684A>T) c.3441+17143T>A (n.3441+17143T>A) c.948-240A>T (n.948-240A>T) c.893A>T (p.Glu298Val) c.276+17143T>A (n.276+17143T>A) c.*220+5401A>T (n.*220+5401A>T) c.17A>T (p.Glu6Val) c.44A>T (p.Glu15Val) c.899A>T (p.Glu300Val) c.713A>T (p.Glu238Val) c.632A>T (p.Glu211Val) c.338A>T (p.Glu113Val) c.719A>T (p.Glu240Val) | |
2 | g.48688823T>C | CA346750400 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.974A>G (p.Glu325Gly) c.948-684A>G (n.948-684A>G) c.3441+17143T>C (n.3441+17143T>C) c.948-240A>G (n.948-240A>G) c.893A>G (p.Glu298Gly) c.276+17143T>C (n.276+17143T>C) c.*220+5401A>G (n.*220+5401A>G) c.17A>G (p.Glu6Gly) c.44A>G (p.Glu15Gly) c.899A>G (p.Glu300Gly) c.713A>G (p.Glu238Gly) c.632A>G (p.Glu211Gly) c.338A>G (p.Glu113Gly) c.719A>G (p.Glu240Gly) | |
2 | g.48688823T>G | CA346750403 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.974A>C (p.Glu325Ala) c.948-684A>C (n.948-684A>C) c.3441+17143T>G (n.3441+17143T>G) c.948-240A>C (n.948-240A>C) c.893A>C (p.Glu298Ala) c.276+17143T>G (n.276+17143T>G) c.*220+5401A>C (n.*220+5401A>C) c.17A>C (p.Glu6Ala) c.44A>C (p.Glu15Ala) c.899A>C (p.Glu300Ala) c.713A>C (p.Glu238Ala) c.632A>C (p.Glu211Ala) c.338A>C (p.Glu113Ala) c.719A>C (p.Glu240Ala) | gnomAD v4 |
2 | g.48688824C>A | CA346750406 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.973G>T (p.Glu325Ter) c.948-685G>T (n.948-685G>T) c.3441+17144C>A (n.3441+17144C>A) c.948-241G>T (n.948-241G>T) c.892G>T (p.Glu298Ter) c.276+17144C>A (n.276+17144C>A) c.*220+5400G>T (n.*220+5400G>T) c.16G>T (p.Glu6Ter) c.43G>T (p.Glu15Ter) c.898G>T (p.Glu300Ter) c.712G>T (p.Glu238Ter) c.631G>T (p.Glu211Ter) c.337G>T (p.Glu113Ter) c.718G>T (p.Glu240Ter) | |
2 | g.48688824C>G | CA346750408 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.973G>C (p.Glu325Gln) c.948-685G>C (n.948-685G>C) c.3441+17144C>G (n.3441+17144C>G) c.948-241G>C (n.948-241G>C) c.892G>C (p.Glu298Gln) c.276+17144C>G (n.276+17144C>G) c.*220+5400G>C (n.*220+5400G>C) c.16G>C (p.Glu6Gln) c.43G>C (p.Glu15Gln) c.898G>C (p.Glu300Gln) c.712G>C (p.Glu238Gln) c.631G>C (p.Glu211Gln) c.337G>C (p.Glu113Gln) c.718G>C (p.Glu240Gln) | gnomAD v4 |
2 | g.48688824C>T | CA346750410 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.973G>A (p.Glu325Lys) c.948-685G>A (n.948-685G>A) c.3441+17144C>T (n.3441+17144C>T) c.948-241G>A (n.948-241G>A) c.892G>A (p.Glu298Lys) c.276+17144C>T (n.276+17144C>T) c.*220+5400G>A (n.*220+5400G>A) c.16G>A (p.Glu6Lys) c.43G>A (p.Glu15Lys) c.898G>A (p.Glu300Lys) c.712G>A (p.Glu238Lys) c.631G>A (p.Glu211Lys) c.337G>A (p.Glu113Lys) c.718G>A (p.Glu240Lys) | COSMIC |
2 | g.48688825A>C | CA346750413 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.972T>G (p.Ser324Arg) c.948-686T>G (n.948-686T>G) c.3441+17145A>C (n.3441+17145A>C) c.948-242T>G (n.948-242T>G) c.891T>G (p.Ser297Arg) c.276+17145A>C (n.276+17145A>C) c.*220+5399T>G (n.*220+5399T>G) c.15T>G (p.Ser5Arg) c.42T>G (p.Ser14Arg) c.897T>G (p.Ser299Arg) c.711T>G (p.Ser237Arg) c.630T>G (p.Ser210Arg) c.336T>G (p.Ser112Arg) c.717T>G (p.Ser239Arg) | gnomAD v4 |
2 | g.48688825A>G | CA426124869 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.972T>C (p.Ser324=) c.948-686T>C (n.948-686T>C) c.3441+17145A>G (n.3441+17145A>G) c.948-242T>C (n.948-242T>C) c.891T>C (p.Ser297=) c.276+17145A>G (n.276+17145A>G) c.*220+5399T>C (n.*220+5399T>C) c.15T>C (p.Ser5=) c.42T>C (p.Ser14=) c.897T>C (p.Ser299=) c.711T>C (p.Ser237=) c.630T>C (p.Ser210=) c.336T>C (p.Ser112=) c.717T>C (p.Ser239=) | |
2 | g.48688825A>T | CA346750417 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.972T>A (p.Ser324Arg) c.948-686T>A (n.948-686T>A) c.3441+17145A>T (n.3441+17145A>T) c.948-242T>A (n.948-242T>A) c.891T>A (p.Ser297Arg) c.276+17145A>T (n.276+17145A>T) c.*220+5399T>A (n.*220+5399T>A) c.15T>A (p.Ser5Arg) c.42T>A (p.Ser14Arg) c.897T>A (p.Ser299Arg) c.711T>A (p.Ser237Arg) c.630T>A (p.Ser210Arg) c.336T>A (p.Ser112Arg) c.717T>A (p.Ser239Arg) | |
2 | g.48688826C>A | CA1653104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.971G>T (p.Ser324Ile) c.948-687G>T (n.948-687G>T) c.3441+17146C>A (n.3441+17146C>A) c.948-243G>T (n.948-243G>T) c.890G>T (p.Ser297Ile) c.276+17146C>A (n.276+17146C>A) c.*220+5398G>T (n.*220+5398G>T) c.14G>T (p.Ser5Ile) c.41G>T (p.Ser14Ile) c.896G>T (p.Ser299Ile) c.710G>T (p.Ser237Ile) c.629G>T (p.Ser210Ile) c.335G>T (p.Ser112Ile) c.716G>T (p.Ser239Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688826C= | CA1248601289 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.971G= (p.Ser324=) c.948-687G= (n.948-687G=) c.3441+17146C= (n.3441+17146C=) c.948-243G= (n.948-243G=) c.890G= (p.Ser297=) c.276+17146C= (n.276+17146C=) c.*220+5398G= (n.*220+5398G=) c.14G= (p.Ser5=) c.41G= (p.Ser14=) c.896G= (p.Ser299=) c.710G= (p.Ser237=) c.629G= (p.Ser210=) c.335G= (p.Ser112=) c.716G= (p.Ser239=) | |
2 | g.48688826C>G | CA346750420 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.971G>C (p.Ser324Thr) c.948-687G>C (n.948-687G>C) c.3441+17146C>G (n.3441+17146C>G) c.948-243G>C (n.948-243G>C) c.890G>C (p.Ser297Thr) c.276+17146C>G (n.276+17146C>G) c.*220+5398G>C (n.*220+5398G>C) c.14G>C (p.Ser5Thr) c.41G>C (p.Ser14Thr) c.896G>C (p.Ser299Thr) c.710G>C (p.Ser237Thr) c.629G>C (p.Ser210Thr) c.335G>C (p.Ser112Thr) c.716G>C (p.Ser239Thr) | |
2 | g.48688826C>T | CA346750424 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.971G>A (p.Ser324Asn) c.948-687G>A (n.948-687G>A) c.3441+17146C>T (n.3441+17146C>T) c.948-243G>A (n.948-243G>A) c.890G>A (p.Ser297Asn) c.276+17146C>T (n.276+17146C>T) c.*220+5398G>A (n.*220+5398G>A) c.14G>A (p.Ser5Asn) c.41G>A (p.Ser14Asn) c.896G>A (p.Ser299Asn) c.710G>A (p.Ser237Asn) c.629G>A (p.Ser210Asn) c.335G>A (p.Ser112Asn) c.716G>A (p.Ser239Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688829_48688830del | CA2749836839 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.970_971del (p.Ser324Ter) c.948-688_948-687del (n.948-688_948-687del) c.3441+17149_3441+17150del (n.3441+17149_3441+17150del) c.948-244_948-243del (n.948-244_948-243del) c.889_890del (p.Ser297Ter) c.276+17149_276+17150del (n.276+17149_276+17150del) c.*220+5397_*220+5398del (n.*220+5397_*220+5398del) c.13_14del (p.Ser5Ter) c.40_41del (p.Ser14Ter) c.895_896del (p.Ser299Ter) c.709_710del (p.Ser237Ter) c.628_629del (p.Ser210Ter) c.334_335del (p.Ser112Ter) c.715_716del (p.Ser239Ter) | |
2 | g.48688827T>A | CA346750428 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.970A>T (p.Ser324Cys) c.948-688A>T (n.948-688A>T) c.3441+17147T>A (n.3441+17147T>A) c.948-244A>T (n.948-244A>T) c.889A>T (p.Ser297Cys) c.276+17147T>A (n.276+17147T>A) c.*220+5397A>T (n.*220+5397A>T) c.13A>T (p.Ser5Cys) c.40A>T (p.Ser14Cys) c.895A>T (p.Ser299Cys) c.709A>T (p.Ser237Cys) c.628A>T (p.Ser210Cys) c.334A>T (p.Ser112Cys) c.715A>T (p.Ser239Cys) | |
2 | g.48688827T>C | CA346750431 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.970A>G (p.Ser324Gly) c.948-688A>G (n.948-688A>G) c.3441+17147T>C (n.3441+17147T>C) c.948-244A>G (n.948-244A>G) c.889A>G (p.Ser297Gly) c.276+17147T>C (n.276+17147T>C) c.*220+5397A>G (n.*220+5397A>G) c.13A>G (p.Ser5Gly) c.40A>G (p.Ser14Gly) c.895A>G (p.Ser299Gly) c.709A>G (p.Ser237Gly) c.628A>G (p.Ser210Gly) c.334A>G (p.Ser112Gly) c.715A>G (p.Ser239Gly) | |
2 | g.48688827T>G | CA346750430 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.970A>C (p.Ser324Arg) c.948-688A>C (n.948-688A>C) c.3441+17147T>G (n.3441+17147T>G) c.948-244A>C (n.948-244A>C) c.889A>C (p.Ser297Arg) c.276+17147T>G (n.276+17147T>G) c.*220+5397A>C (n.*220+5397A>C) c.13A>C (p.Ser5Arg) c.40A>C (p.Ser14Arg) c.895A>C (p.Ser299Arg) c.709A>C (p.Ser237Arg) c.628A>C (p.Ser210Arg) c.334A>C (p.Ser112Arg) c.715A>C (p.Ser239Arg) | |
2 | g.48688828C>A | CA346750433 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.969G>T (p.Glu323Asp) c.948-689G>T (n.948-689G>T) c.3441+17148C>A (n.3441+17148C>A) c.948-245G>T (n.948-245G>T) c.888G>T (p.Glu296Asp) c.276+17148C>A (n.276+17148C>A) c.*220+5396G>T (n.*220+5396G>T) c.12G>T (p.Glu4Asp) c.39G>T (p.Glu13Asp) c.894G>T (p.Glu298Asp) c.708G>T (p.Glu236Asp) c.627G>T (p.Glu209Asp) c.333G>T (p.Glu111Asp) c.714G>T (p.Glu238Asp) | COSMIC |
2 | g.48688828C>G | CA346750434 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.969G>C (p.Glu323Asp) c.948-689G>C (n.948-689G>C) c.3441+17148C>G (n.3441+17148C>G) c.948-245G>C (n.948-245G>C) c.888G>C (p.Glu296Asp) c.276+17148C>G (n.276+17148C>G) c.*220+5396G>C (n.*220+5396G>C) c.12G>C (p.Glu4Asp) c.39G>C (p.Glu13Asp) c.894G>C (p.Glu298Asp) c.708G>C (p.Glu236Asp) c.627G>C (p.Glu209Asp) c.333G>C (p.Glu111Asp) c.714G>C (p.Glu238Asp) | |
2 | g.48688828C>T | CA426124870 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.969G>A (p.Glu323=) c.948-689G>A (n.948-689G>A) c.3441+17148C>T (n.3441+17148C>T) c.948-245G>A (n.948-245G>A) c.888G>A (p.Glu296=) c.276+17148C>T (n.276+17148C>T) c.*220+5396G>A (n.*220+5396G>A) c.12G>A (p.Glu4=) c.39G>A (p.Glu13=) c.894G>A (p.Glu298=) c.708G>A (p.Glu236=) c.627G>A (p.Glu209=) c.333G>A (p.Glu111=) c.714G>A (p.Glu238=) | |
2 | g.48688829T>A | CA346750436 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.968A>T (p.Glu323Val) c.948-690A>T (n.948-690A>T) c.3441+17149T>A (n.3441+17149T>A) c.948-246A>T (n.948-246A>T) c.887A>T (p.Glu296Val) c.276+17149T>A (n.276+17149T>A) c.*220+5395A>T (n.*220+5395A>T) c.11A>T (p.Glu4Val) c.38A>T (p.Glu13Val) c.893A>T (p.Glu298Val) c.707A>T (p.Glu236Val) c.626A>T (p.Glu209Val) c.332A>T (p.Glu111Val) c.713A>T (p.Glu238Val) | |
2 | g.48688829T>C | CA346750438 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.968A>G (p.Glu323Gly) c.948-690A>G (n.948-690A>G) c.3441+17149T>C (n.3441+17149T>C) c.948-246A>G (n.948-246A>G) c.887A>G (p.Glu296Gly) c.276+17149T>C (n.276+17149T>C) c.*220+5395A>G (n.*220+5395A>G) c.11A>G (p.Glu4Gly) c.38A>G (p.Glu13Gly) c.893A>G (p.Glu298Gly) c.707A>G (p.Glu236Gly) c.626A>G (p.Glu209Gly) c.332A>G (p.Glu111Gly) c.713A>G (p.Glu238Gly) | |
2 | g.48688829T>G | CA346750440 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.968A>C (p.Glu323Ala) c.948-690A>C (n.948-690A>C) c.3441+17149T>G (n.3441+17149T>G) c.948-246A>C (n.948-246A>C) c.887A>C (p.Glu296Ala) c.276+17149T>G (n.276+17149T>G) c.*220+5395A>C (n.*220+5395A>C) c.11A>C (p.Glu4Ala) c.38A>C (p.Glu13Ala) c.893A>C (p.Glu298Ala) c.707A>C (p.Glu236Ala) c.626A>C (p.Glu209Ala) c.332A>C (p.Glu111Ala) c.713A>C (p.Glu238Ala) | |
2 | g.48688830C>A | CA346750443 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.967G>T (p.Glu323Ter) c.948-691G>T (n.948-691G>T) c.3441+17150C>A (n.3441+17150C>A) c.948-247G>T (n.948-247G>T) c.886G>T (p.Glu296Ter) c.276+17150C>A (n.276+17150C>A) c.*220+5394G>T (n.*220+5394G>T) c.10G>T (p.Glu4Ter) c.37G>T (p.Glu13Ter) c.892G>T (p.Glu298Ter) c.706G>T (p.Glu236Ter) c.625G>T (p.Glu209Ter) c.331G>T (p.Glu111Ter) c.712G>T (p.Glu238Ter) | |
2 | g.48688830C>G | CA346750447 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.967G>C (p.Glu323Gln) c.948-691G>C (n.948-691G>C) c.3441+17150C>G (n.3441+17150C>G) c.948-247G>C (n.948-247G>C) c.886G>C (p.Glu296Gln) c.276+17150C>G (n.276+17150C>G) c.*220+5394G>C (n.*220+5394G>C) c.10G>C (p.Glu4Gln) c.37G>C (p.Glu13Gln) c.892G>C (p.Glu298Gln) c.706G>C (p.Glu236Gln) c.625G>C (p.Glu209Gln) c.331G>C (p.Glu111Gln) c.712G>C (p.Glu238Gln) | |
2 | g.48688830C>T | CA346750448 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.967G>A (p.Glu323Lys) c.948-691G>A (n.948-691G>A) c.3441+17150C>T (n.3441+17150C>T) c.948-247G>A (n.948-247G>A) c.886G>A (p.Glu296Lys) c.276+17150C>T (n.276+17150C>T) c.*220+5394G>A (n.*220+5394G>A) c.10G>A (p.Glu4Lys) c.37G>A (p.Glu13Lys) c.892G>A (p.Glu298Lys) c.706G>A (p.Glu236Lys) c.625G>A (p.Glu209Lys) c.331G>A (p.Glu111Lys) c.712G>A (p.Glu238Lys) | COSMIC |
2 | g.48688831A= | CA1248601290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.966T= (p.Ala322=) c.948-692T= (n.948-692T=) c.3441+17151A= (n.3441+17151A=) c.948-248T= (n.948-248T=) c.885T= (p.Ala295=) c.276+17151A= (n.276+17151A=) c.*220+5393T= (n.*220+5393T=) c.9T= (p.Ala3=) c.36T= (p.Ala12=) c.891T= (p.Ala297=) c.705T= (p.Ala235=) c.624T= (p.Ala208=) c.330T= (p.Ala110=) c.711T= (p.Ala237=) | |
2 | g.48688831A>C | CA426124871 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.966T>G (p.Ala322=) c.948-692T>G (n.948-692T>G) c.3441+17151A>C (n.3441+17151A>C) c.948-248T>G (n.948-248T>G) c.885T>G (p.Ala295=) c.276+17151A>C (n.276+17151A>C) c.*220+5393T>G (n.*220+5393T>G) c.9T>G (p.Ala3=) c.36T>G (p.Ala12=) c.891T>G (p.Ala297=) c.705T>G (p.Ala235=) c.624T>G (p.Ala208=) c.330T>G (p.Ala110=) c.711T>G (p.Ala237=) | gnomAD v4 |
2 | g.48688831A>G | CA1653105 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.966T>C (p.Ala322=) c.948-692T>C (n.948-692T>C) c.3441+17151A>G (n.3441+17151A>G) c.948-248T>C (n.948-248T>C) c.885T>C (p.Ala295=) c.276+17151A>G (n.276+17151A>G) c.*220+5393T>C (n.*220+5393T>C) c.9T>C (p.Ala3=) c.36T>C (p.Ala12=) c.891T>C (p.Ala297=) c.705T>C (p.Ala235=) c.624T>C (p.Ala208=) c.330T>C (p.Ala110=) c.711T>C (p.Ala237=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688831A>T | CA426124872 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.966T>A (p.Ala322=) c.948-692T>A (n.948-692T>A) c.3441+17151A>T (n.3441+17151A>T) c.948-248T>A (n.948-248T>A) c.885T>A (p.Ala295=) c.276+17151A>T (n.276+17151A>T) c.*220+5393T>A (n.*220+5393T>A) c.9T>A (p.Ala3=) c.36T>A (p.Ala12=) c.891T>A (p.Ala297=) c.705T>A (p.Ala235=) c.624T>A (p.Ala208=) c.330T>A (p.Ala110=) c.711T>A (p.Ala237=) | |
2 | g.48688832G>A | CA346750454 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.965C>T (p.Ala322Val) c.948-693C>T (n.948-693C>T) c.3441+17152G>A (n.3441+17152G>A) c.948-249C>T (n.948-249C>T) c.884C>T (p.Ala295Val) c.276+17152G>A (n.276+17152G>A) c.*220+5392C>T (n.*220+5392C>T) c.8C>T (p.Ala3Val) c.35C>T (p.Ala12Val) c.890C>T (p.Ala297Val) c.704C>T (p.Ala235Val) c.623C>T (p.Ala208Val) c.329C>T (p.Ala110Val) c.710C>T (p.Ala237Val) | |
2 | g.48688832G>C | CA346750455 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.965C>G (p.Ala322Gly) c.948-693C>G (n.948-693C>G) c.3441+17152G>C (n.3441+17152G>C) c.948-249C>G (n.948-249C>G) c.884C>G (p.Ala295Gly) c.276+17152G>C (n.276+17152G>C) c.*220+5392C>G (n.*220+5392C>G) c.8C>G (p.Ala3Gly) c.35C>G (p.Ala12Gly) c.890C>G (p.Ala297Gly) c.704C>G (p.Ala235Gly) c.623C>G (p.Ala208Gly) c.329C>G (p.Ala110Gly) c.710C>G (p.Ala237Gly) | |
2 | g.48688832G>T | CA346750458 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.965C>A (p.Ala322Asp) c.948-693C>A (n.948-693C>A) c.3441+17152G>T (n.3441+17152G>T) c.948-249C>A (n.948-249C>A) c.884C>A (p.Ala295Asp) c.276+17152G>T (n.276+17152G>T) c.*220+5392C>A (n.*220+5392C>A) c.8C>A (p.Ala3Asp) c.35C>A (p.Ala12Asp) c.890C>A (p.Ala297Asp) c.704C>A (p.Ala235Asp) c.623C>A (p.Ala208Asp) c.329C>A (p.Ala110Asp) c.710C>A (p.Ala237Asp) | |
2 | g.48688833C>A | CA346750465 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.964G>T (p.Ala322Ser) c.948-694G>T (n.948-694G>T) c.3441+17153C>A (n.3441+17153C>A) c.948-250G>T (n.948-250G>T) c.883G>T (p.Ala295Ser) c.276+17153C>A (n.276+17153C>A) c.*220+5391G>T (n.*220+5391G>T) c.7G>T (p.Ala3Ser) c.34G>T (p.Ala12Ser) c.889G>T (p.Ala297Ser) c.703G>T (p.Ala235Ser) c.622G>T (p.Ala208Ser) c.328G>T (p.Ala110Ser) c.709G>T (p.Ala237Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688833C= | CA1248601291 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.964G= (p.Ala322=) c.948-694G= (n.948-694G=) c.3441+17153C= (n.3441+17153C=) c.948-250G= (n.948-250G=) c.883G= (p.Ala295=) c.276+17153C= (n.276+17153C=) c.*220+5391G= (n.*220+5391G=) c.7G= (p.Ala3=) c.34G= (p.Ala12=) c.889G= (p.Ala297=) c.703G= (p.Ala235=) c.622G= (p.Ala208=) c.328G= (p.Ala110=) c.709G= (p.Ala237=) | |
2 | g.48688833C>G | CA346750464 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.964G>C (p.Ala322Pro) c.948-694G>C (n.948-694G>C) c.3441+17153C>G (n.3441+17153C>G) c.948-250G>C (n.948-250G>C) c.883G>C (p.Ala295Pro) c.276+17153C>G (n.276+17153C>G) c.*220+5391G>C (n.*220+5391G>C) c.7G>C (p.Ala3Pro) c.34G>C (p.Ala12Pro) c.889G>C (p.Ala297Pro) c.703G>C (p.Ala235Pro) c.622G>C (p.Ala208Pro) c.328G>C (p.Ala110Pro) c.709G>C (p.Ala237Pro) | |
2 | g.48688833C>T | CA346750461 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.964G>A (p.Ala322Thr) c.948-694G>A (n.948-694G>A) c.3441+17153C>T (n.3441+17153C>T) c.948-250G>A (n.948-250G>A) c.883G>A (p.Ala295Thr) c.276+17153C>T (n.276+17153C>T) c.*220+5391G>A (n.*220+5391G>A) c.7G>A (p.Ala3Thr) c.34G>A (p.Ala12Thr) c.889G>A (p.Ala297Thr) c.703G>A (p.Ala235Thr) c.622G>A (p.Ala208Thr) c.328G>A (p.Ala110Thr) c.709G>A (p.Ala237Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688834A>C | CA426124875 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.963T>G (p.Leu321=) c.948-695T>G (n.948-695T>G) c.3441+17154A>C (n.3441+17154A>C) c.948-251T>G (n.948-251T>G) c.882T>G (p.Leu294=) c.276+17154A>C (n.276+17154A>C) c.*220+5390T>G (n.*220+5390T>G) c.6T>G (p.Leu2=) c.33T>G (p.Leu11=) c.888T>G (p.Leu296=) c.702T>G (p.Leu234=) c.621T>G (p.Leu207=) c.327T>G (p.Leu109=) c.708T>G (p.Leu236=) | |
2 | g.48688834A>G | CA426124874 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.963T>C (p.Leu321=) c.948-695T>C (n.948-695T>C) c.3441+17154A>G (n.3441+17154A>G) c.948-251T>C (n.948-251T>C) c.882T>C (p.Leu294=) c.276+17154A>G (n.276+17154A>G) c.*220+5390T>C (n.*220+5390T>C) c.6T>C (p.Leu2=) c.33T>C (p.Leu11=) c.888T>C (p.Leu296=) c.702T>C (p.Leu234=) c.621T>C (p.Leu207=) c.327T>C (p.Leu109=) c.708T>C (p.Leu236=) | |
2 | g.48688834A>T | CA426124873 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.963T>A (p.Leu321=) c.948-695T>A (n.948-695T>A) c.3441+17154A>T (n.3441+17154A>T) c.948-251T>A (n.948-251T>A) c.882T>A (p.Leu294=) c.276+17154A>T (n.276+17154A>T) c.*220+5390T>A (n.*220+5390T>A) c.6T>A (p.Leu2=) c.33T>A (p.Leu11=) c.888T>A (p.Leu296=) c.702T>A (p.Leu234=) c.621T>A (p.Leu207=) c.327T>A (p.Leu109=) c.708T>A (p.Leu236=) | |
2 | g.48688835A= | CA1248601292 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.962T= (p.Leu321=) c.948-696T= (n.948-696T=) c.3441+17155A= (n.3441+17155A=) c.948-252T= (n.948-252T=) c.881T= (p.Leu294=) c.276+17155A= (n.276+17155A=) c.*220+5389T= (n.*220+5389T=) c.5T= (p.Leu2=) c.32T= (p.Leu11=) c.887T= (p.Leu296=) c.701T= (p.Leu234=) c.620T= (p.Leu207=) c.326T= (p.Leu109=) c.707T= (p.Leu236=) | |
2 | g.48688835A>C | CA346750468 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.962T>G (p.Leu321Arg) c.948-696T>G (n.948-696T>G) c.3441+17155A>C (n.3441+17155A>C) c.948-252T>G (n.948-252T>G) c.881T>G (p.Leu294Arg) c.276+17155A>C (n.276+17155A>C) c.*220+5389T>G (n.*220+5389T>G) c.5T>G (p.Leu2Arg) c.32T>G (p.Leu11Arg) c.887T>G (p.Leu296Arg) c.701T>G (p.Leu234Arg) c.620T>G (p.Leu207Arg) c.326T>G (p.Leu109Arg) c.707T>G (p.Leu236Arg) | |
2 | g.48688835A>G | CA346750470 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.962T>C (p.Leu321Pro) c.948-696T>C (n.948-696T>C) c.3441+17155A>G (n.3441+17155A>G) c.948-252T>C (n.948-252T>C) c.881T>C (p.Leu294Pro) c.276+17155A>G (n.276+17155A>G) c.*220+5389T>C (n.*220+5389T>C) c.5T>C (p.Leu2Pro) c.32T>C (p.Leu11Pro) c.887T>C (p.Leu296Pro) c.701T>C (p.Leu234Pro) c.620T>C (p.Leu207Pro) c.326T>C (p.Leu109Pro) c.707T>C (p.Leu236Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688835A>T | CA346750473 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.962T>A (p.Leu321His) c.948-696T>A (n.948-696T>A) c.3441+17155A>T (n.3441+17155A>T) c.948-252T>A (n.948-252T>A) c.881T>A (p.Leu294His) c.276+17155A>T (n.276+17155A>T) c.*220+5389T>A (n.*220+5389T>A) c.5T>A (p.Leu2His) c.32T>A (p.Leu11His) c.887T>A (p.Leu296His) c.701T>A (p.Leu234His) c.620T>A (p.Leu207His) c.326T>A (p.Leu109His) c.707T>A (p.Leu236His) | |
2 | g.48688836G>A | CA346750476 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.961C>T (p.Leu321Phe) c.948-697C>T (n.948-697C>T) c.3441+17156G>A (n.3441+17156G>A) c.948-253C>T (n.948-253C>T) c.880C>T (p.Leu294Phe) c.276+17156G>A (n.276+17156G>A) c.*220+5388C>T (n.*220+5388C>T) c.4C>T (p.Leu2Phe) c.31C>T (p.Leu11Phe) c.886C>T (p.Leu296Phe) c.700C>T (p.Leu234Phe) c.619C>T (p.Leu207Phe) c.325C>T (p.Leu109Phe) c.706C>T (p.Leu236Phe) | |
2 | g.48688836G>C | CA346750477 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.961C>G (p.Leu321Val) c.948-697C>G (n.948-697C>G) c.3441+17156G>C (n.3441+17156G>C) c.948-253C>G (n.948-253C>G) c.880C>G (p.Leu294Val) c.276+17156G>C (n.276+17156G>C) c.*220+5388C>G (n.*220+5388C>G) c.4C>G (p.Leu2Val) c.31C>G (p.Leu11Val) c.886C>G (p.Leu296Val) c.700C>G (p.Leu234Val) c.619C>G (p.Leu207Val) c.325C>G (p.Leu109Val) c.706C>G (p.Leu236Val) | |
2 | g.48688836G>T | CA346750480 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.961C>A (p.Leu321Ile) c.948-697C>A (n.948-697C>A) c.3441+17156G>T (n.3441+17156G>T) c.948-253C>A (n.948-253C>A) c.880C>A (p.Leu294Ile) c.276+17156G>T (n.276+17156G>T) c.*220+5388C>A (n.*220+5388C>A) c.4C>A (p.Leu2Ile) c.31C>A (p.Leu11Ile) c.886C>A (p.Leu296Ile) c.700C>A (p.Leu234Ile) c.619C>A (p.Leu207Ile) c.325C>A (p.Leu109Ile) c.706C>A (p.Leu236Ile) | |
2 | g.48688837C>A | CA346750483 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.960G>T (p.Met320Ile) c.948-698G>T (n.948-698G>T) c.3441+17157C>A (n.3441+17157C>A) c.948-254G>T (n.948-254G>T) c.879G>T (p.Met293Ile) c.276+17157C>A (n.276+17157C>A) c.*220+5387G>T (n.*220+5387G>T) c.3G>T (p.Met1Ile) c.30G>T (p.Met10Ile) c.885G>T (p.Met295Ile) c.699G>T (p.Met233Ile) c.618G>T (p.Met206Ile) c.324G>T (p.Met108Ile) c.705G>T (p.Met235Ile) | |
2 | g.48688837C>G | CA346750484 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.960G>C (p.Met320Ile) c.948-698G>C (n.948-698G>C) c.3441+17157C>G (n.3441+17157C>G) c.948-254G>C (n.948-254G>C) c.879G>C (p.Met293Ile) c.276+17157C>G (n.276+17157C>G) c.*220+5387G>C (n.*220+5387G>C) c.3G>C (p.Met1Ile) c.30G>C (p.Met10Ile) c.885G>C (p.Met295Ile) c.699G>C (p.Met233Ile) c.618G>C (p.Met206Ile) c.324G>C (p.Met108Ile) c.705G>C (p.Met235Ile) | |
2 | g.48688837C>T | CA346750485 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.960G>A (p.Met320Ile) c.948-698G>A (n.948-698G>A) c.3441+17157C>T (n.3441+17157C>T) c.948-254G>A (n.948-254G>A) c.879G>A (p.Met293Ile) c.276+17157C>T (n.276+17157C>T) c.*220+5387G>A (n.*220+5387G>A) c.3G>A (p.Met1Ile) c.30G>A (p.Met10Ile) c.885G>A (p.Met295Ile) c.699G>A (p.Met233Ile) c.618G>A (p.Met206Ile) c.324G>A (p.Met108Ile) c.705G>A (p.Met235Ile) | |
2 | g.48688838A= | CA1248601293 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.959T= (p.Met320=) c.948-699T= (n.948-699T=) c.3441+17158A= (n.3441+17158A=) c.948-255T= (n.948-255T=) c.878T= (p.Met293=) c.276+17158A= (n.276+17158A=) c.*220+5386T= (n.*220+5386T=) c.2T= (p.Met1=) c.29T= (p.Met10=) c.884T= (p.Met295=) c.698T= (p.Met233=) c.617T= (p.Met206=) c.323T= (p.Met108=) c.704T= (p.Met235=) | |
2 | g.48688838A>C | CA346750490 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.959T>G (p.Met320Arg) c.948-699T>G (n.948-699T>G) c.3441+17158A>C (n.3441+17158A>C) c.948-255T>G (n.948-255T>G) c.878T>G (p.Met293Arg) c.276+17158A>C (n.276+17158A>C) c.*220+5386T>G (n.*220+5386T>G) c.2T>G (p.Met1Arg) c.29T>G (p.Met10Arg) c.884T>G (p.Met295Arg) c.698T>G (p.Met233Arg) c.617T>G (p.Met206Arg) c.323T>G (p.Met108Arg) c.704T>G (p.Met235Arg) | |
2 | g.48688838A>G | CA1653106 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.959T>C (p.Met320Thr) c.948-699T>C (n.948-699T>C) c.3441+17158A>G (n.3441+17158A>G) c.948-255T>C (n.948-255T>C) c.878T>C (p.Met293Thr) c.276+17158A>G (n.276+17158A>G) c.*220+5386T>C (n.*220+5386T>C) c.2T>C (p.Met1Thr) c.29T>C (p.Met10Thr) c.884T>C (p.Met295Thr) c.698T>C (p.Met233Thr) c.617T>C (p.Met206Thr) c.323T>C (p.Met108Thr) c.704T>C (p.Met235Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688838A>T | CA346750493 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.959T>A (p.Met320Lys) c.948-699T>A (n.948-699T>A) c.3441+17158A>T (n.3441+17158A>T) c.948-255T>A (n.948-255T>A) c.878T>A (p.Met293Lys) c.276+17158A>T (n.276+17158A>T) c.*220+5386T>A (n.*220+5386T>A) c.2T>A (p.Met1Lys) c.29T>A (p.Met10Lys) c.884T>A (p.Met295Lys) c.698T>A (p.Met233Lys) c.617T>A (p.Met206Lys) c.323T>A (p.Met108Lys) c.704T>A (p.Met235Lys) | |
2 | g.48688839T>A | CA346750495 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.958A>T (p.Met320Leu) c.948-700A>T (n.948-700A>T) c.3441+17159T>A (n.3441+17159T>A) c.948-256A>T (n.948-256A>T) c.877A>T (p.Met293Leu) c.276+17159T>A (n.276+17159T>A) c.*220+5385A>T (n.*220+5385A>T) c.1A>T (p.Met1Leu) c.28A>T (p.Met10Leu) c.883A>T (p.Met295Leu) c.697A>T (p.Met233Leu) c.616A>T (p.Met206Leu) c.322A>T (p.Met108Leu) c.703A>T (p.Met235Leu) | |
2 | g.48688839T>C | CA346750499 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.958A>G (p.Met320Val) c.948-700A>G (n.948-700A>G) c.3441+17159T>C (n.3441+17159T>C) c.948-256A>G (n.948-256A>G) c.877A>G (p.Met293Val) c.276+17159T>C (n.276+17159T>C) c.*220+5385A>G (n.*220+5385A>G) c.1A>G (p.Met1Val) c.28A>G (p.Met10Val) c.883A>G (p.Met295Val) c.697A>G (p.Met233Val) c.616A>G (p.Met206Val) c.322A>G (p.Met108Val) c.703A>G (p.Met235Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688839T>G | CA346750498 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.958A>C (p.Met320Leu) c.948-700A>C (n.948-700A>C) c.3441+17159T>G (n.3441+17159T>G) c.948-256A>C (n.948-256A>C) c.877A>C (p.Met293Leu) c.276+17159T>G (n.276+17159T>G) c.*220+5385A>C (n.*220+5385A>C) c.1A>C (p.Met1Leu) c.28A>C (p.Met10Leu) c.883A>C (p.Met295Leu) c.697A>C (p.Met233Leu) c.616A>C (p.Met206Leu) c.322A>C (p.Met108Leu) c.703A>C (p.Met235Leu) | |
2 | g.48688839T= | CA1248601294 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.958A= (p.Met320=) c.948-700A= (n.948-700A=) c.3441+17159T= (n.3441+17159T=) c.948-256A= (n.948-256A=) c.877A= (p.Met293=) c.276+17159T= (n.276+17159T=) c.*220+5385A= (n.*220+5385A=) c.1A= (p.Met1=) c.28A= (p.Met10=) c.883A= (p.Met295=) c.697A= (p.Met233=) c.616A= (p.Met206=) c.322A= (p.Met108=) c.703A= (p.Met235=) | |
2 | g.48688840G>A | CA426124876 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.957C>T (p.Ser319=) c.948-701C>T (n.948-701C>T) c.3441+17160G>A (n.3441+17160G>A) c.948-257C>T (n.948-257C>T) c.876C>T (p.Ser292=) c.276+17160G>A (n.276+17160G>A) c.*220+5384C>T (n.*220+5384C>T) c.-1C>T (n.-1C>T) c.27C>T (p.Ser9=) c.882C>T (p.Ser294=) c.696C>T (p.Ser232=) c.615C>T (p.Ser205=) c.321C>T (p.Ser107=) c.702C>T (p.Ser234=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688840G>C | CA426124877 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.957C>G (p.Ser319=) c.948-701C>G (n.948-701C>G) c.3441+17160G>C (n.3441+17160G>C) c.948-257C>G (n.948-257C>G) c.876C>G (p.Ser292=) c.276+17160G>C (n.276+17160G>C) c.*220+5384C>G (n.*220+5384C>G) c.-1C>G (n.-1C>G) c.27C>G (p.Ser9=) c.882C>G (p.Ser294=) c.696C>G (p.Ser232=) c.615C>G (p.Ser205=) c.321C>G (p.Ser107=) c.702C>G (p.Ser234=) | |
2 | g.48688840G= | CA1248601295 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.957C= (p.Ser319=) c.948-701C= (n.948-701C=) c.3441+17160G= (n.3441+17160G=) c.948-257C= (n.948-257C=) c.876C= (p.Ser292=) c.276+17160G= (n.276+17160G=) c.*220+5384C= (n.*220+5384C=) c.-1C= (n.-1C=) c.27C= (p.Ser9=) c.882C= (p.Ser294=) c.696C= (p.Ser232=) c.615C= (p.Ser205=) c.321C= (p.Ser107=) c.702C= (p.Ser234=) | |
2 | g.48688840G>T | CA426124878 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.957C>A (p.Ser319=) c.948-701C>A (n.948-701C>A) c.3441+17160G>T (n.3441+17160G>T) c.948-257C>A (n.948-257C>A) c.876C>A (p.Ser292=) c.276+17160G>T (n.276+17160G>T) c.*220+5384C>A (n.*220+5384C>A) c.-1C>A (n.-1C>A) c.27C>A (p.Ser9=) c.882C>A (p.Ser294=) c.696C>A (p.Ser232=) c.615C>A (p.Ser205=) c.321C>A (p.Ser107=) c.702C>A (p.Ser234=) | |
2 | g.48688841G>A | CA346750500 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.956C>T (p.Ser319Phe) c.948-702C>T (n.948-702C>T) c.3441+17161G>A (n.3441+17161G>A) c.948-258C>T (n.948-258C>T) c.875C>T (p.Ser292Phe) c.276+17161G>A (n.276+17161G>A) c.*220+5383C>T (n.*220+5383C>T) c.-2C>T (n.-2C>T) c.26C>T (p.Ser9Phe) c.881C>T (p.Ser294Phe) c.695C>T (p.Ser232Phe) c.614C>T (p.Ser205Phe) c.320C>T (p.Ser107Phe) c.701C>T (p.Ser234Phe) | dbSNP |
2 | g.48688841G>C | CA346750505 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.956C>G (p.Ser319Cys) c.948-702C>G (n.948-702C>G) c.3441+17161G>C (n.3441+17161G>C) c.948-258C>G (n.948-258C>G) c.875C>G (p.Ser292Cys) c.276+17161G>C (n.276+17161G>C) c.*220+5383C>G (n.*220+5383C>G) c.-2C>G (n.-2C>G) c.26C>G (p.Ser9Cys) c.881C>G (p.Ser294Cys) c.695C>G (p.Ser232Cys) c.614C>G (p.Ser205Cys) c.320C>G (p.Ser107Cys) c.701C>G (p.Ser234Cys) | |
2 | g.48688841G= | CA1248601296 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.956C= (p.Ser319=) c.948-702C= (n.948-702C=) c.3441+17161G= (n.3441+17161G=) c.948-258C= (n.948-258C=) c.875C= (p.Ser292=) c.276+17161G= (n.276+17161G=) c.*220+5383C= (n.*220+5383C=) c.-2C= (n.-2C=) c.26C= (p.Ser9=) c.881C= (p.Ser294=) c.695C= (p.Ser232=) c.614C= (p.Ser205=) c.320C= (p.Ser107=) c.701C= (p.Ser234=) | |
2 | g.48688841G>T | CA346750502 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.956C>A (p.Ser319Tyr) c.948-702C>A (n.948-702C>A) c.3441+17161G>T (n.3441+17161G>T) c.948-258C>A (n.948-258C>A) c.875C>A (p.Ser292Tyr) c.276+17161G>T (n.276+17161G>T) c.*220+5383C>A (n.*220+5383C>A) c.-2C>A (n.-2C>A) c.26C>A (p.Ser9Tyr) c.881C>A (p.Ser294Tyr) c.695C>A (p.Ser232Tyr) c.614C>A (p.Ser205Tyr) c.320C>A (p.Ser107Tyr) c.701C>A (p.Ser234Tyr) | |
2 | g.48688842A>C | CA346750507 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.955T>G (p.Ser319Ala) c.948-703T>G (n.948-703T>G) c.3441+17162A>C (n.3441+17162A>C) c.948-259T>G (n.948-259T>G) c.874T>G (p.Ser292Ala) c.276+17162A>C (n.276+17162A>C) c.*220+5382T>G (n.*220+5382T>G) c.-3T>G (n.-3T>G) c.25T>G (p.Ser9Ala) c.880T>G (p.Ser294Ala) c.694T>G (p.Ser232Ala) c.613T>G (p.Ser205Ala) c.319T>G (p.Ser107Ala) c.700T>G (p.Ser234Ala) | |
2 | g.48688842A>G | CA346750509 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.955T>C (p.Ser319Pro) c.948-703T>C (n.948-703T>C) c.3441+17162A>G (n.3441+17162A>G) c.948-259T>C (n.948-259T>C) c.874T>C (p.Ser292Pro) c.276+17162A>G (n.276+17162A>G) c.*220+5382T>C (n.*220+5382T>C) c.-3T>C (n.-3T>C) c.25T>C (p.Ser9Pro) c.880T>C (p.Ser294Pro) c.694T>C (p.Ser232Pro) c.613T>C (p.Ser205Pro) c.319T>C (p.Ser107Pro) c.700T>C (p.Ser234Pro) | |
2 | g.48688842A>T | CA346750513 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.955T>A (p.Ser319Thr) c.948-703T>A (n.948-703T>A) c.3441+17162A>T (n.3441+17162A>T) c.948-259T>A (n.948-259T>A) c.874T>A (p.Ser292Thr) c.276+17162A>T (n.276+17162A>T) c.*220+5382T>A (n.*220+5382T>A) c.-3T>A (n.-3T>A) c.25T>A (p.Ser9Thr) c.880T>A (p.Ser294Thr) c.694T>A (p.Ser232Thr) c.613T>A (p.Ser205Thr) c.319T>A (p.Ser107Thr) c.700T>A (p.Ser234Thr) | |
2 | g.48688843A>C | CA426124879 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.954T>G (p.Ser318=) c.948-704T>G (n.948-704T>G) c.3441+17163A>C (n.3441+17163A>C) c.948-260T>G (n.948-260T>G) c.873T>G (p.Ser291=) c.276+17163A>C (n.276+17163A>C) c.*220+5381T>G (n.*220+5381T>G) c.-4T>G (n.-4T>G) c.24T>G (p.Ser8=) c.879T>G (p.Ser293=) c.693T>G (p.Ser231=) c.612T>G (p.Ser204=) c.318T>G (p.Ser106=) c.699T>G (p.Ser233=) | |
2 | g.48688843A>G | CA426124880 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.954T>C (p.Ser318=) c.948-704T>C (n.948-704T>C) c.3441+17163A>G (n.3441+17163A>G) c.948-260T>C (n.948-260T>C) c.873T>C (p.Ser291=) c.276+17163A>G (n.276+17163A>G) c.*220+5381T>C (n.*220+5381T>C) c.-4T>C (n.-4T>C) c.24T>C (p.Ser8=) c.879T>C (p.Ser293=) c.693T>C (p.Ser231=) c.612T>C (p.Ser204=) c.318T>C (p.Ser106=) c.699T>C (p.Ser233=) | |
2 | g.48688843A>T | CA426124881 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.954T>A (p.Ser318=) c.948-704T>A (n.948-704T>A) c.3441+17163A>T (n.3441+17163A>T) c.948-260T>A (n.948-260T>A) c.873T>A (p.Ser291=) c.276+17163A>T (n.276+17163A>T) c.*220+5381T>A (n.*220+5381T>A) c.-4T>A (n.-4T>A) c.24T>A (p.Ser8=) c.879T>A (p.Ser293=) c.693T>A (p.Ser231=) c.612T>A (p.Ser204=) c.318T>A (p.Ser106=) c.699T>A (p.Ser233=) | |
2 | g.48688844G>A | CA1653107 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.953C>T (p.Ser318Phe) c.948-705C>T (n.948-705C>T) c.3441+17164G>A (n.3441+17164G>A) c.948-261C>T (n.948-261C>T) c.872C>T (p.Ser291Phe) c.276+17164G>A (n.276+17164G>A) c.*220+5380C>T (n.*220+5380C>T) c.-5C>T (n.-5C>T) c.23C>T (p.Ser8Phe) c.878C>T (p.Ser293Phe) c.692C>T (p.Ser231Phe) c.611C>T (p.Ser204Phe) c.317C>T (p.Ser106Phe) c.698C>T (p.Ser233Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688844G>C | CA346750518 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.953C>G (p.Ser318Cys) c.948-705C>G (n.948-705C>G) c.3441+17164G>C (n.3441+17164G>C) c.948-261C>G (n.948-261C>G) c.872C>G (p.Ser291Cys) c.276+17164G>C (n.276+17164G>C) c.*220+5380C>G (n.*220+5380C>G) c.-5C>G (n.-5C>G) c.23C>G (p.Ser8Cys) c.878C>G (p.Ser293Cys) c.692C>G (p.Ser231Cys) c.611C>G (p.Ser204Cys) c.317C>G (p.Ser106Cys) c.698C>G (p.Ser233Cys) | |
2 | g.48688844G= | CA1248601297 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.953C= (p.Ser318=) c.948-705C= (n.948-705C=) c.3441+17164G= (n.3441+17164G=) c.948-261C= (n.948-261C=) c.872C= (p.Ser291=) c.276+17164G= (n.276+17164G=) c.*220+5380C= (n.*220+5380C=) c.-5C= (n.-5C=) c.23C= (p.Ser8=) c.878C= (p.Ser293=) c.692C= (p.Ser231=) c.611C= (p.Ser204=) c.317C= (p.Ser106=) c.698C= (p.Ser233=) | |
2 | g.48688844G>T | CA346750521 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.953C>A (p.Ser318Tyr) c.948-705C>A (n.948-705C>A) c.3441+17164G>T (n.3441+17164G>T) c.948-261C>A (n.948-261C>A) c.872C>A (p.Ser291Tyr) c.276+17164G>T (n.276+17164G>T) c.*220+5380C>A (n.*220+5380C>A) c.-5C>A (n.-5C>A) c.23C>A (p.Ser8Tyr) c.878C>A (p.Ser293Tyr) c.692C>A (p.Ser231Tyr) c.611C>A (p.Ser204Tyr) c.317C>A (p.Ser106Tyr) c.698C>A (p.Ser233Tyr) | |
2 | g.48688845A>C | CA346750524 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.952T>G (p.Ser318Ala) c.948-706T>G (n.948-706T>G) c.3441+17165A>C (n.3441+17165A>C) c.948-262T>G (n.948-262T>G) c.871T>G (p.Ser291Ala) c.276+17165A>C (n.276+17165A>C) c.*220+5379T>G (n.*220+5379T>G) c.-6T>G (n.-6T>G) c.22T>G (p.Ser8Ala) c.877T>G (p.Ser293Ala) c.691T>G (p.Ser231Ala) c.610T>G (p.Ser204Ala) c.316T>G (p.Ser106Ala) c.697T>G (p.Ser233Ala) | |
2 | g.48688845A>G | CA346750526 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.952T>C (p.Ser318Pro) c.948-706T>C (n.948-706T>C) c.3441+17165A>G (n.3441+17165A>G) c.948-262T>C (n.948-262T>C) c.871T>C (p.Ser291Pro) c.276+17165A>G (n.276+17165A>G) c.*220+5379T>C (n.*220+5379T>C) c.-6T>C (n.-6T>C) c.22T>C (p.Ser8Pro) c.877T>C (p.Ser293Pro) c.691T>C (p.Ser231Pro) c.610T>C (p.Ser204Pro) c.316T>C (p.Ser106Pro) c.697T>C (p.Ser233Pro) | |
2 | g.48688845A>T | CA346750528 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.952T>A (p.Ser318Thr) c.948-706T>A (n.948-706T>A) c.3441+17165A>T (n.3441+17165A>T) c.948-262T>A (n.948-262T>A) c.871T>A (p.Ser291Thr) c.276+17165A>T (n.276+17165A>T) c.*220+5379T>A (n.*220+5379T>A) c.-6T>A (n.-6T>A) c.22T>A (p.Ser8Thr) c.877T>A (p.Ser293Thr) c.691T>A (p.Ser231Thr) c.610T>A (p.Ser204Thr) c.316T>A (p.Ser106Thr) c.697T>A (p.Ser233Thr) | |
2 | g.48688846A= | CA1248601298 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.951T= (p.Tyr317=) c.948-707T= (n.948-707T=) c.3441+17166A= (n.3441+17166A=) c.948-263T= (n.948-263T=) c.870T= (p.Tyr290=) c.276+17166A= (n.276+17166A=) c.*220+5378T= (n.*220+5378T=) c.-7T= (n.-7T=) c.21T= (p.Tyr7=) c.876T= (p.Tyr292=) c.690T= (p.Tyr230=) c.609T= (p.Tyr203=) c.315T= (p.Tyr105=) c.696T= (p.Tyr232=) | |
2 | g.48688846A>C | CA346750531 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.951T>G (p.Tyr317Ter) c.948-707T>G (n.948-707T>G) c.3441+17166A>C (n.3441+17166A>C) c.948-263T>G (n.948-263T>G) c.870T>G (p.Tyr290Ter) c.276+17166A>C (n.276+17166A>C) c.*220+5378T>G (n.*220+5378T>G) c.-7T>G (n.-7T>G) c.21T>G (p.Tyr7Ter) c.876T>G (p.Tyr292Ter) c.690T>G (p.Tyr230Ter) c.609T>G (p.Tyr203Ter) c.315T>G (p.Tyr105Ter) c.696T>G (p.Tyr232Ter) | |
2 | g.48688846A>G | CA426124882 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.951T>C (p.Tyr317=) c.948-707T>C (n.948-707T>C) c.3441+17166A>G (n.3441+17166A>G) c.948-263T>C (n.948-263T>C) c.870T>C (p.Tyr290=) c.276+17166A>G (n.276+17166A>G) c.*220+5378T>C (n.*220+5378T>C) c.-7T>C (n.-7T>C) c.21T>C (p.Tyr7=) c.876T>C (p.Tyr292=) c.690T>C (p.Tyr230=) c.609T>C (p.Tyr203=) c.315T>C (p.Tyr105=) c.696T>C (p.Tyr232=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688846A>T | CA346750533 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.951T>A (p.Tyr317Ter) c.948-707T>A (n.948-707T>A) c.3441+17166A>T (n.3441+17166A>T) c.948-263T>A (n.948-263T>A) c.870T>A (p.Tyr290Ter) c.276+17166A>T (n.276+17166A>T) c.*220+5378T>A (n.*220+5378T>A) c.-7T>A (n.-7T>A) c.21T>A (p.Tyr7Ter) c.876T>A (p.Tyr292Ter) c.690T>A (p.Tyr230Ter) c.609T>A (p.Tyr203Ter) c.315T>A (p.Tyr105Ter) c.696T>A (p.Tyr232Ter) | |
2 | g.48688846_48688852delinsATAACTG | CA1248601299 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-3_951delinsCAGTTAT c.948-713_948-707delinsCAGTTAT (n.948-713_948-707delinsCAGTTAT) c.3441+17166_3441+17172delinsATAACTG (n.3441+17166_3441+17172delinsATAACTG) c.948-269_948-263delinsCAGTTAT (n.948-269_948-263delinsCAGTTAT) c.867-3_870delinsCAGTTAT c.276+17166_276+17172delinsATAACTG (n.276+17166_276+17172delinsATAACTG) c.*220+5372_*220+5378delinsCAGTTAT (n.*220+5372_*220+5378delinsCAGTTAT) c.-10-3_-7delinsCAGTTAT c.18-3_21delinsCAGTTAT c.873-3_876delinsCAGTTAT c.687-3_690delinsCAGTTAT c.606-3_609delinsCAGTTAT c.312-3_315delinsCAGTTAT c.693-3_696delinsCAGTTAT | |
2 | g.48688847T>A | CA346750539 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.950A>T (p.Tyr317Phe) c.948-708A>T (n.948-708A>T) c.3441+17167T>A (n.3441+17167T>A) c.948-264A>T (n.948-264A>T) c.869A>T (p.Tyr290Phe) c.276+17167T>A (n.276+17167T>A) c.*220+5377A>T (n.*220+5377A>T) c.-8A>T (n.-8A>T) c.20A>T (p.Tyr7Phe) c.875A>T (p.Tyr292Phe) c.689A>T (p.Tyr230Phe) c.608A>T (p.Tyr203Phe) c.314A>T (p.Tyr105Phe) c.695A>T (p.Tyr232Phe) | |
2 | g.48688847T>C | CA346750535 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.950A>G (p.Tyr317Cys) c.948-708A>G (n.948-708A>G) c.3441+17167T>C (n.3441+17167T>C) c.948-264A>G (n.948-264A>G) c.869A>G (p.Tyr290Cys) c.276+17167T>C (n.276+17167T>C) c.*220+5377A>G (n.*220+5377A>G) c.-8A>G (n.-8A>G) c.20A>G (p.Tyr7Cys) c.875A>G (p.Tyr292Cys) c.689A>G (p.Tyr230Cys) c.608A>G (p.Tyr203Cys) c.314A>G (p.Tyr105Cys) c.695A>G (p.Tyr232Cys) | COSMIC |
2 | g.48688847T>G | CA346750536 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.950A>C (p.Tyr317Ser) c.948-708A>C (n.948-708A>C) c.3441+17167T>G (n.3441+17167T>G) c.948-264A>C (n.948-264A>C) c.869A>C (p.Tyr290Ser) c.276+17167T>G (n.276+17167T>G) c.*220+5377A>C (n.*220+5377A>C) c.-8A>C (n.-8A>C) c.20A>C (p.Tyr7Ser) c.875A>C (p.Tyr292Ser) c.689A>C (p.Tyr230Ser) c.608A>C (p.Tyr203Ser) c.314A>C (p.Tyr105Ser) c.695A>C (p.Tyr232Ser) | |
2 | g.48688850_48688855del | CA1248601300 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-3_950del c.948-713_948-708del (n.948-713_948-708del) c.3441+17170_3441+17175del (n.3441+17170_3441+17175del) c.948-269_948-264del (n.948-269_948-264del) c.867-3_869del c.276+17170_276+17175del (n.276+17170_276+17175del) c.*220+5372_*220+5377del (n.*220+5372_*220+5377del) c.-10-3_-8del c.18-3_20del c.873-3_875del c.687-3_689del c.606-3_608del c.312-3_314del c.693-3_695del | dbSNP |
2 | g.48688848A>C | CA346750540 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.949T>G (p.Tyr317Asp) c.948-709T>G (n.948-709T>G) c.3441+17168A>C (n.3441+17168A>C) c.948-265T>G (n.948-265T>G) c.868T>G (p.Tyr290Asp) c.276+17168A>C (n.276+17168A>C) c.*220+5376T>G (n.*220+5376T>G) c.-9T>G (n.-9T>G) c.19T>G (p.Tyr7Asp) c.874T>G (p.Tyr292Asp) c.688T>G (p.Tyr230Asp) c.607T>G (p.Tyr203Asp) c.313T>G (p.Tyr105Asp) c.694T>G (p.Tyr232Asp) | |
2 | g.48688848A>G | CA346750542 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.949T>C (p.Tyr317His) c.948-709T>C (n.948-709T>C) c.3441+17168A>G (n.3441+17168A>G) c.948-265T>C (n.948-265T>C) c.868T>C (p.Tyr290His) c.276+17168A>G (n.276+17168A>G) c.*220+5376T>C (n.*220+5376T>C) c.-9T>C (n.-9T>C) c.19T>C (p.Tyr7His) c.874T>C (p.Tyr292His) c.688T>C (p.Tyr230His) c.607T>C (p.Tyr203His) c.313T>C (p.Tyr105His) c.694T>C (p.Tyr232His) | gnomAD v4 |
2 | g.48688848A>T | CA346750545 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.949T>A (p.Tyr317Asn) c.948-709T>A (n.948-709T>A) c.3441+17168A>T (n.3441+17168A>T) c.948-265T>A (n.948-265T>A) c.868T>A (p.Tyr290Asn) c.276+17168A>T (n.276+17168A>T) c.*220+5376T>A (n.*220+5376T>A) c.-9T>A (n.-9T>A) c.19T>A (p.Tyr7Asn) c.874T>A (p.Tyr292Asn) c.688T>A (p.Tyr230Asn) c.607T>A (p.Tyr203Asn) c.313T>A (p.Tyr105Asn) c.694T>A (p.Tyr232Asn) | |
2 | g.48688849A>C | CA346750547 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948T>G (p.Leu316=) c.948-710T>G (n.948-710T>G) c.3441+17169A>C (n.3441+17169A>C) c.948-266T>G (n.948-266T>G) c.867T>G (p.Asp289Glu) c.276+17169A>C (n.276+17169A>C) c.*220+5375T>G (n.*220+5375T>G) c.-10T>G (n.-10T>G) c.18T>G (p.Gly6=) c.873T>G (p.Leu291=) c.687T>G (p.Leu229=) c.606T>G (p.Phe202Leu) c.312T>G (p.Leu104=) c.693T>G (p.Leu231=) | |
2 | g.48688849A>G | CA426124886 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948T>C (p.Leu316=) c.948-710T>C (n.948-710T>C) c.3441+17169A>G (n.3441+17169A>G) c.948-266T>C (n.948-266T>C) c.867T>C (p.Asp289=) c.276+17169A>G (n.276+17169A>G) c.*220+5375T>C (n.*220+5375T>C) c.-10T>C (n.-10T>C) c.18T>C (p.Gly6=) c.873T>C (p.Leu291=) c.687T>C (p.Leu229=) c.606T>C (p.Phe202=) c.312T>C (p.Leu104=) c.693T>C (p.Leu231=) | |
2 | g.48688849A>T | CA346750548 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948T>A (p.Leu316=) c.948-710T>A (n.948-710T>A) c.3441+17169A>T (n.3441+17169A>T) c.948-266T>A (n.948-266T>A) c.867T>A (p.Asp289Glu) c.276+17169A>T (n.276+17169A>T) c.*220+5375T>A (n.*220+5375T>A) c.-10T>A (n.-10T>A) c.18T>A (p.Gly6=) c.873T>A (p.Leu291=) c.687T>A (p.Leu229=) c.606T>A (p.Phe202Leu) c.312T>A (p.Leu104=) c.693T>A (p.Leu231=) | |
2 | g.48688850C>A | CA346750551 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-1G>T (n.948-1G>T) c.948-711G>T (n.948-711G>T) c.3441+17170C>A (n.3441+17170C>A) c.948-267G>T (n.948-267G>T) c.867-1G>T (n.867-1G>T) c.276+17170C>A (n.276+17170C>A) c.*220+5374G>T (n.*220+5374G>T) c.-10-1G>T (n.-10-1G>T) c.18-1G>T (n.18-1G>T) c.873-1G>T (n.873-1G>T) c.687-1G>T (n.687-1G>T) c.606-1G>T (n.606-1G>T) c.312-1G>T (n.312-1G>T) c.693-1G>T (n.693-1G>T) | |
2 | g.48688850C= | CA1248601301 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-1G= (n.948-1G=) c.948-711G= (n.948-711G=) c.3441+17170C= (n.3441+17170C=) c.948-267G= (n.948-267G=) c.867-1G= (n.867-1G=) c.276+17170C= (n.276+17170C=) c.*220+5374G= (n.*220+5374G=) c.-10-1G= (n.-10-1G=) c.18-1G= (n.18-1G=) c.873-1G= (n.873-1G=) c.687-1G= (n.687-1G=) c.606-1G= (n.606-1G=) c.312-1G= (n.312-1G=) c.693-1G= (n.693-1G=) | |
2 | g.48688850C>G | CA346750554 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-1G>C (n.948-1G>C) c.948-711G>C (n.948-711G>C) c.3441+17170C>G (n.3441+17170C>G) c.948-267G>C (n.948-267G>C) c.867-1G>C (n.867-1G>C) c.276+17170C>G (n.276+17170C>G) c.*220+5374G>C (n.*220+5374G>C) c.-10-1G>C (n.-10-1G>C) c.18-1G>C (n.18-1G>C) c.873-1G>C (n.873-1G>C) c.687-1G>C (n.687-1G>C) c.606-1G>C (n.606-1G>C) c.312-1G>C (n.312-1G>C) c.693-1G>C (n.693-1G>C) | |
2 | g.48688850C>T | CA1653108 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-1G>A (n.948-1G>A) c.948-711G>A (n.948-711G>A) c.3441+17170C>T (n.3441+17170C>T) c.948-267G>A (n.948-267G>A) c.867-1G>A (n.867-1G>A) c.276+17170C>T (n.276+17170C>T) c.*220+5374G>A (n.*220+5374G>A) c.-10-1G>A (n.-10-1G>A) c.18-1G>A (n.18-1G>A) c.873-1G>A (n.873-1G>A) c.687-1G>A (n.687-1G>A) c.606-1G>A (n.606-1G>A) c.312-1G>A (n.312-1G>A) c.693-1G>A (n.693-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688851T>A | CA346750558 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-2A>T (n.948-2A>T) c.948-712A>T (n.948-712A>T) c.3441+17171T>A (n.3441+17171T>A) c.948-268A>T (n.948-268A>T) c.867-2A>T (n.867-2A>T) c.276+17171T>A (n.276+17171T>A) c.*220+5373A>T (n.*220+5373A>T) c.-10-2A>T (n.-10-2A>T) c.18-2A>T (n.18-2A>T) c.873-2A>T (n.873-2A>T) c.687-2A>T (n.687-2A>T) c.606-2A>T (n.606-2A>T) c.312-2A>T (n.312-2A>T) c.693-2A>T (n.693-2A>T) | |
2 | g.48688851T>C | CA346750560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-2A>G (n.948-2A>G) c.948-712A>G (n.948-712A>G) c.3441+17171T>C (n.3441+17171T>C) c.948-268A>G (n.948-268A>G) c.867-2A>G (n.867-2A>G) c.276+17171T>C (n.276+17171T>C) c.*220+5373A>G (n.*220+5373A>G) c.-10-2A>G (n.-10-2A>G) c.18-2A>G (n.18-2A>G) c.873-2A>G (n.873-2A>G) c.687-2A>G (n.687-2A>G) c.606-2A>G (n.606-2A>G) c.312-2A>G (n.312-2A>G) c.693-2A>G (n.693-2A>G) | |
2 | g.48688851T>G | CA346750561 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-2A>C (n.948-2A>C) c.948-712A>C (n.948-712A>C) c.3441+17171T>G (n.3441+17171T>G) c.948-268A>C (n.948-268A>C) c.867-2A>C (n.867-2A>C) c.276+17171T>G (n.276+17171T>G) c.*220+5373A>C (n.*220+5373A>C) c.-10-2A>C (n.-10-2A>C) c.18-2A>C (n.18-2A>C) c.873-2A>C (n.873-2A>C) c.687-2A>C (n.687-2A>C) c.606-2A>C (n.606-2A>C) c.312-2A>C (n.312-2A>C) c.693-2A>C (n.693-2A>C) | |
2 | g.48688852_48688853del | CA2658992096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-3_948-2del (n.948-3_948-2del) c.948-713_948-712del (n.948-713_948-712del) c.3441+17172_3441+17173del (n.3441+17172_3441+17173del) c.948-269_948-268del (n.948-269_948-268del) c.867-3_867-2del (n.867-3_867-2del) c.276+17172_276+17173del (n.276+17172_276+17173del) c.*220+5372_*220+5373del (n.*220+5372_*220+5373del) c.-10-3_-10-2del (n.-10-3_-10-2del) c.18-3_18-2del (n.18-3_18-2del) c.873-3_873-2del (n.873-3_873-2del) c.687-3_687-2del (n.687-3_687-2del) c.606-3_606-2del (n.606-3_606-2del) c.312-3_312-2del (n.312-3_312-2del) c.693-3_693-2del (n.693-3_693-2del) | gnomAD v4 |
2 | g.48688852G>A | CA46753513 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-3C>T (n.948-3C>T) c.948-713C>T (n.948-713C>T) c.3441+17172G>A (n.3441+17172G>A) c.948-269C>T (n.948-269C>T) c.867-3C>T (n.867-3C>T) c.276+17172G>A (n.276+17172G>A) c.*220+5372C>T (n.*220+5372C>T) c.-10-3C>T (n.-10-3C>T) c.18-3C>T (n.18-3C>T) c.873-3C>T (n.873-3C>T) c.687-3C>T (n.687-3C>T) c.606-3C>T (n.606-3C>T) c.312-3C>T (n.312-3C>T) c.693-3C>T (n.693-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688852G>C | CA46753515 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-3C>G (n.948-3C>G) c.948-713C>G (n.948-713C>G) c.3441+17172G>C (n.3441+17172G>C) c.948-269C>G (n.948-269C>G) c.867-3C>G (n.867-3C>G) c.276+17172G>C (n.276+17172G>C) c.*220+5372C>G (n.*220+5372C>G) c.-10-3C>G (n.-10-3C>G) c.18-3C>G (n.18-3C>G) c.873-3C>G (n.873-3C>G) c.687-3C>G (n.687-3C>G) c.606-3C>G (n.606-3C>G) c.312-3C>G (n.312-3C>G) c.693-3C>G (n.693-3C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688852G= | CA1248601302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-3C= (n.948-3C=) c.948-713C= (n.948-713C=) c.3441+17172G= (n.3441+17172G=) c.948-269C= (n.948-269C=) c.867-3C= (n.867-3C=) c.276+17172G= (n.276+17172G=) c.*220+5372C= (n.*220+5372C=) c.-10-3C= (n.-10-3C=) c.18-3C= (n.18-3C=) c.873-3C= (n.873-3C=) c.687-3C= (n.687-3C=) c.606-3C= (n.606-3C=) c.312-3C= (n.312-3C=) c.693-3C= (n.693-3C=) | |
2 | g.48688853T>C | CA769577678 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-4A>G (n.948-4A>G) c.948-714A>G (n.948-714A>G) c.3441+17173T>C (n.3441+17173T>C) c.948-270A>G (n.948-270A>G) c.867-4A>G (n.867-4A>G) c.276+17173T>C (n.276+17173T>C) c.*220+5371A>G (n.*220+5371A>G) c.-10-4A>G (n.-10-4A>G) c.18-4A>G (n.18-4A>G) c.873-4A>G (n.873-4A>G) c.687-4A>G (n.687-4A>G) c.606-4A>G (n.606-4A>G) c.312-4A>G (n.312-4A>G) c.693-4A>G (n.693-4A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688853T= | CA1248601303 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-4A= (n.948-4A=) c.948-714A= (n.948-714A=) c.3441+17173T= (n.3441+17173T=) c.948-270A= (n.948-270A=) c.867-4A= (n.867-4A=) c.276+17173T= (n.276+17173T=) c.*220+5371A= (n.*220+5371A=) c.-10-4A= (n.-10-4A=) c.18-4A= (n.18-4A=) c.873-4A= (n.873-4A=) c.687-4A= (n.687-4A=) c.606-4A= (n.606-4A=) c.312-4A= (n.312-4A=) c.693-4A= (n.693-4A=) | |
2 | g.48688853_48688854insTCTTTTTGTTCTCCTGAC | CA1248601304 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-5_948-4insGTCAGGAGAACAAAAAGA (n.948-5_948-4insGTCAGGAGAACAAAAAGA) c.948-715_948-714insGTCAGGAGAACAAAAAGA (n.948-715_948-714insGTCAGGAGAACAAAAAGA) c.3441+17173_3441+17174insTCTTTTTGTTCTCCTGAC (n.3441+17173_3441+17174insTCTTTTTGTTCTCCTGAC) c.948-271_948-270insGTCAGGAGAACAAAAAGA (n.948-271_948-270insGTCAGGAGAACAAAAAGA) c.867-5_867-4insGTCAGGAGAACAAAAAGA (n.867-5_867-4insGTCAGGAGAACAAAAAGA) c.276+17173_276+17174insTCTTTTTGTTCTCCTGAC (n.276+17173_276+17174insTCTTTTTGTTCTCCTGAC) c.*220+5370_*220+5371insGTCAGGAGAACAAAAAGA (n.*220+5370_*220+5371insGTCAGGAGAACAAAAAGA) c.-10-5_-10-4insGTCAGGAGAACAAAAAGA (n.-10-5_-10-4insGTCAGGAGAACAAAAAGA) c.18-5_18-4insGTCAGGAGAACAAAAAGA (n.18-5_18-4insGTCAGGAGAACAAAAAGA) c.873-5_873-4insGTCAGGAGAACAAAAAGA (n.873-5_873-4insGTCAGGAGAACAAAAAGA) c.687-5_687-4insGTCAGGAGAACAAAAAGA (n.687-5_687-4insGTCAGGAGAACAAAAAGA) c.606-5_606-4insGTCAGGAGAACAAAAAGA (n.606-5_606-4insGTCAGGAGAACAAAAAGA) c.312-5_312-4insGTCAGGAGAACAAAAAGA (n.312-5_312-4insGTCAGGAGAACAAAAAGA) c.693-5_693-4insGTCAGGAGAACAAAAAGA (n.693-5_693-4insGTCAGGAGAACAAAAAGA) | dbSNP |
2 | g.48688859_48688861del | CA2658992097 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-7_948-5del (n.948-7_948-5del) c.948-717_948-715del (n.948-717_948-715del) c.3441+17179_3441+17181del (n.3441+17179_3441+17181del) c.948-273_948-271del (n.948-273_948-271del) c.867-7_867-5del (n.867-7_867-5del) c.276+17179_276+17181del (n.276+17179_276+17181del) c.*220+5368_*220+5370del (n.*220+5368_*220+5370del) c.-10-7_-10-5del (n.-10-7_-10-5del) c.18-7_18-5del (n.18-7_18-5del) c.873-7_873-5del (n.873-7_873-5del) c.687-7_687-5del (n.687-7_687-5del) c.606-7_606-5del (n.606-7_606-5del) c.312-7_312-5del (n.312-7_312-5del) c.693-7_693-5del (n.693-7_693-5del) | gnomAD v4 |
2 | g.48688861A>C | CA2658992098 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-12T>G (n.948-12T>G) c.948-722T>G (n.948-722T>G) c.3441+17181A>C (n.3441+17181A>C) c.948-278T>G (n.948-278T>G) c.867-12T>G (n.867-12T>G) c.276+17181A>C (n.276+17181A>C) c.*220+5363T>G (n.*220+5363T>G) c.-10-12T>G (n.-10-12T>G) c.18-12T>G (n.18-12T>G) c.873-12T>G (n.873-12T>G) c.687-12T>G (n.687-12T>G) c.606-12T>G (n.606-12T>G) c.312-12T>G (n.312-12T>G) c.693-12T>G (n.693-12T>G) | gnomAD v4 |
2 | g.48688862T>G | CA1248601306 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-13A>C (n.948-13A>C) c.948-723A>C (n.948-723A>C) c.3441+17182T>G (n.3441+17182T>G) c.948-279A>C (n.948-279A>C) c.867-13A>C (n.867-13A>C) c.276+17182T>G (n.276+17182T>G) c.*220+5362A>C (n.*220+5362A>C) c.-10-13A>C (n.-10-13A>C) c.18-13A>C (n.18-13A>C) c.873-13A>C (n.873-13A>C) c.687-13A>C (n.687-13A>C) c.606-13A>C (n.606-13A>C) c.312-13A>C (n.312-13A>C) c.693-13A>C (n.693-13A>C) | dbSNP |
2 | g.48688862T= | CA1248601305 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.948-13A= (n.948-13A=) c.948-723A= (n.948-723A=) c.3441+17182T= (n.3441+17182T=) c.948-279A= (n.948-279A=) c.867-13A= (n.867-13A=) c.276+17182T= (n.276+17182T=) c.*220+5362A= (n.*220+5362A=) c.-10-13A= (n.-10-13A=) c.18-13A= (n.18-13A=) c.873-13A= (n.873-13A=) c.687-13A= (n.687-13A=) c.606-13A= (n.606-13A=) c.312-13A= (n.312-13A=) c.693-13A= (n.693-13A=) |