WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688670C>A | CA346749524 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1127G>T (p.Gly376Val) c.948-531G>T (n.948-531G>T) c.3441+16990C>A (n.3441+16990C>A) c.948-87G>T (n.948-87G>T) c.1046G>T (p.Gly349Val) c.276+16990C>A (n.276+16990C>A) c.*220+5554G>T (n.*220+5554G>T) c.170G>T (p.Gly57Val) c.197G>T (p.Gly66Val) c.1052G>T (p.Gly351Val) c.866G>T (p.Gly289Val) c.785G>T (p.Gly262Val) c.491G>T (p.Gly164Val) c.872G>T (p.Gly291Val) | |
| 2 | g.48688670C= | CA1248601227 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1127G= (p.Gly376=) c.948-531G= (n.948-531G=) c.3441+16990C= (n.3441+16990C=) c.948-87G= (n.948-87G=) c.1046G= (p.Gly349=) c.276+16990C= (n.276+16990C=) c.*220+5554G= (n.*220+5554G=) c.170G= (p.Gly57=) c.197G= (p.Gly66=) c.1052G= (p.Gly351=) c.866G= (p.Gly289=) c.785G= (p.Gly262=) c.491G= (p.Gly164=) c.872G= (p.Gly291=) | |
| 2 | g.48688670C>G | CA346749526 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1127G>C (p.Gly376Ala) c.948-531G>C (n.948-531G>C) c.3441+16990C>G (n.3441+16990C>G) c.948-87G>C (n.948-87G>C) c.1046G>C (p.Gly349Ala) c.276+16990C>G (n.276+16990C>G) c.*220+5554G>C (n.*220+5554G>C) c.170G>C (p.Gly57Ala) c.197G>C (p.Gly66Ala) c.1052G>C (p.Gly351Ala) c.866G>C (p.Gly289Ala) c.785G>C (p.Gly262Ala) c.491G>C (p.Gly164Ala) c.872G>C (p.Gly291Ala) | |
| 2 | g.48688670C>T | CA46753255 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1127G>A (p.Gly376Glu) c.948-531G>A (n.948-531G>A) c.3441+16990C>T (n.3441+16990C>T) c.948-87G>A (n.948-87G>A) c.1046G>A (p.Gly349Glu) c.276+16990C>T (n.276+16990C>T) c.*220+5554G>A (n.*220+5554G>A) c.170G>A (p.Gly57Glu) c.197G>A (p.Gly66Glu) c.1052G>A (p.Gly351Glu) c.866G>A (p.Gly289Glu) c.785G>A (p.Gly262Glu) c.491G>A (p.Gly164Glu) c.872G>A (p.Gly291Glu) | dbSNP COSMIC |
| 2 | g.48688671C>A | CA346749528 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1126G>T (p.Gly376Ter) c.948-532G>T (n.948-532G>T) c.3441+16991C>A (n.3441+16991C>A) c.948-88G>T (n.948-88G>T) c.1045G>T (p.Gly349Ter) c.276+16991C>A (n.276+16991C>A) c.*220+5553G>T (n.*220+5553G>T) c.169G>T (p.Gly57Ter) c.196G>T (p.Gly66Ter) c.1051G>T (p.Gly351Ter) c.865G>T (p.Gly289Ter) c.784G>T (p.Gly262Ter) c.490G>T (p.Gly164Ter) c.871G>T (p.Gly291Ter) | |
| 2 | g.48688671C>G | CA346749533 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1126G>C (p.Gly376Arg) c.948-532G>C (n.948-532G>C) c.3441+16991C>G (n.3441+16991C>G) c.948-88G>C (n.948-88G>C) c.1045G>C (p.Gly349Arg) c.276+16991C>G (n.276+16991C>G) c.*220+5553G>C (n.*220+5553G>C) c.169G>C (p.Gly57Arg) c.196G>C (p.Gly66Arg) c.1051G>C (p.Gly351Arg) c.865G>C (p.Gly289Arg) c.784G>C (p.Gly262Arg) c.490G>C (p.Gly164Arg) c.871G>C (p.Gly291Arg) | |
| 2 | g.48688671C>T | CA346749535 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1126G>A (p.Gly376Arg) c.948-532G>A (n.948-532G>A) c.3441+16991C>T (n.3441+16991C>T) c.948-88G>A (n.948-88G>A) c.1045G>A (p.Gly349Arg) c.276+16991C>T (n.276+16991C>T) c.*220+5553G>A (n.*220+5553G>A) c.169G>A (p.Gly57Arg) c.196G>A (p.Gly66Arg) c.1051G>A (p.Gly351Arg) c.865G>A (p.Gly289Arg) c.784G>A (p.Gly262Arg) c.490G>A (p.Gly164Arg) c.871G>A (p.Gly291Arg) | |
| 2 | g.48688672C>A | CA346749537 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1125G>T (p.Met375Ile) c.948-533G>T (n.948-533G>T) c.3441+16992C>A (n.3441+16992C>A) c.948-89G>T (n.948-89G>T) c.1044G>T (p.Met348Ile) c.276+16992C>A (n.276+16992C>A) c.*220+5552G>T (n.*220+5552G>T) c.168G>T (p.Met56Ile) c.195G>T (p.Met65Ile) c.1050G>T (p.Met350Ile) c.864G>T (p.Met288Ile) c.783G>T (p.Met261Ile) c.489G>T (p.Met163Ile) c.870G>T (p.Met290Ile) | dbSNP |
| 2 | g.48688672C>G | CA346749538 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1125G>C (p.Met375Ile) c.948-533G>C (n.948-533G>C) c.3441+16992C>G (n.3441+16992C>G) c.948-89G>C (n.948-89G>C) c.1044G>C (p.Met348Ile) c.276+16992C>G (n.276+16992C>G) c.*220+5552G>C (n.*220+5552G>C) c.168G>C (p.Met56Ile) c.195G>C (p.Met65Ile) c.1050G>C (p.Met350Ile) c.864G>C (p.Met288Ile) c.783G>C (p.Met261Ile) c.489G>C (p.Met163Ile) c.870G>C (p.Met290Ile) | |
| 2 | g.48688672C>T | CA346749540 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1125G>A (p.Met375Ile) c.948-533G>A (n.948-533G>A) c.3441+16992C>T (n.3441+16992C>T) c.948-89G>A (n.948-89G>A) c.1044G>A (p.Met348Ile) c.276+16992C>T (n.276+16992C>T) c.*220+5552G>A (n.*220+5552G>A) c.168G>A (p.Met56Ile) c.195G>A (p.Met65Ile) c.1050G>A (p.Met350Ile) c.864G>A (p.Met288Ile) c.783G>A (p.Met261Ile) c.489G>A (p.Met163Ile) c.870G>A (p.Met290Ile) | |
| 2 | g.48688673A= | CA1248601228 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1124T= (p.Met375=) c.948-534T= (n.948-534T=) c.3441+16993A= (n.3441+16993A=) c.948-90T= (n.948-90T=) c.1043T= (p.Met348=) c.276+16993A= (n.276+16993A=) c.*220+5551T= (n.*220+5551T=) c.167T= (p.Met56=) c.194T= (p.Met65=) c.1049T= (p.Met350=) c.863T= (p.Met288=) c.782T= (p.Met261=) c.488T= (p.Met163=) c.869T= (p.Met290=) | |
| 2 | g.48688673A>C | CA346749542 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1124T>G (p.Met375Arg) c.948-534T>G (n.948-534T>G) c.3441+16993A>C (n.3441+16993A>C) c.948-90T>G (n.948-90T>G) c.1043T>G (p.Met348Arg) c.276+16993A>C (n.276+16993A>C) c.*220+5551T>G (n.*220+5551T>G) c.167T>G (p.Met56Arg) c.194T>G (p.Met65Arg) c.1049T>G (p.Met350Arg) c.863T>G (p.Met288Arg) c.782T>G (p.Met261Arg) c.488T>G (p.Met163Arg) c.869T>G (p.Met290Arg) | |
| 2 | g.48688673A>G | CA346749545 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1124T>C (p.Met375Thr) c.948-534T>C (n.948-534T>C) c.3441+16993A>G (n.3441+16993A>G) c.948-90T>C (n.948-90T>C) c.1043T>C (p.Met348Thr) c.276+16993A>G (n.276+16993A>G) c.*220+5551T>C (n.*220+5551T>C) c.167T>C (p.Met56Thr) c.194T>C (p.Met65Thr) c.1049T>C (p.Met350Thr) c.863T>C (p.Met288Thr) c.782T>C (p.Met261Thr) c.488T>C (p.Met163Thr) c.869T>C (p.Met290Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.48688673A>T | CA346749548 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1124T>A (p.Met375Lys) c.948-534T>A (n.948-534T>A) c.3441+16993A>T (n.3441+16993A>T) c.948-90T>A (n.948-90T>A) c.1043T>A (p.Met348Lys) c.276+16993A>T (n.276+16993A>T) c.*220+5551T>A (n.*220+5551T>A) c.167T>A (p.Met56Lys) c.194T>A (p.Met65Lys) c.1049T>A (p.Met350Lys) c.863T>A (p.Met288Lys) c.782T>A (p.Met261Lys) c.488T>A (p.Met163Lys) c.869T>A (p.Met290Lys) | |
| 2 | g.48688674T>A | CA346749555 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1123A>T (p.Met375Leu) c.948-535A>T (n.948-535A>T) c.3441+16994T>A (n.3441+16994T>A) c.948-91A>T (n.948-91A>T) c.1042A>T (p.Met348Leu) c.276+16994T>A (n.276+16994T>A) c.*220+5550A>T (n.*220+5550A>T) c.166A>T (p.Met56Leu) c.193A>T (p.Met65Leu) c.1048A>T (p.Met350Leu) c.862A>T (p.Met288Leu) c.781A>T (p.Met261Leu) c.487A>T (p.Met163Leu) c.868A>T (p.Met290Leu) | |
| 2 | g.48688674T>C | CA346749560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1123A>G (p.Met375Val) c.948-535A>G (n.948-535A>G) c.3441+16994T>C (n.3441+16994T>C) c.948-91A>G (n.948-91A>G) c.1042A>G (p.Met348Val) c.276+16994T>C (n.276+16994T>C) c.*220+5550A>G (n.*220+5550A>G) c.166A>G (p.Met56Val) c.193A>G (p.Met65Val) c.1048A>G (p.Met350Val) c.862A>G (p.Met288Val) c.781A>G (p.Met261Val) c.487A>G (p.Met163Val) c.868A>G (p.Met290Val) | gnomAD v4 |
| 2 | g.48688674T>G | CA346749558 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1123A>C (p.Met375Leu) c.948-535A>C (n.948-535A>C) c.3441+16994T>G (n.3441+16994T>G) c.948-91A>C (n.948-91A>C) c.1042A>C (p.Met348Leu) c.276+16994T>G (n.276+16994T>G) c.*220+5550A>C (n.*220+5550A>C) c.166A>C (p.Met56Leu) c.193A>C (p.Met65Leu) c.1048A>C (p.Met350Leu) c.862A>C (p.Met288Leu) c.781A>C (p.Met261Leu) c.487A>C (p.Met163Leu) c.868A>C (p.Met290Leu) | |
| 2 | g.48688675G>A | CA426124705 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1122C>T (p.Ile374=) c.948-536C>T (n.948-536C>T) c.3441+16995G>A (n.3441+16995G>A) c.948-92C>T (n.948-92C>T) c.1041C>T (p.Ile347=) c.276+16995G>A (n.276+16995G>A) c.*220+5549C>T (n.*220+5549C>T) c.165C>T (p.Ile55=) c.192C>T (p.Ile64=) c.1047C>T (p.Ile349=) c.861C>T (p.Ile287=) c.780C>T (p.Ile260=) c.486C>T (p.Ile162=) c.867C>T (p.Ile289=) | |
| 2 | g.48688675G>C | CA346749563 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1122C>G (p.Ile374Met) c.948-536C>G (n.948-536C>G) c.3441+16995G>C (n.3441+16995G>C) c.948-92C>G (n.948-92C>G) c.1041C>G (p.Ile347Met) c.276+16995G>C (n.276+16995G>C) c.*220+5549C>G (n.*220+5549C>G) c.165C>G (p.Ile55Met) c.192C>G (p.Ile64Met) c.1047C>G (p.Ile349Met) c.861C>G (p.Ile287Met) c.780C>G (p.Ile260Met) c.486C>G (p.Ile162Met) c.867C>G (p.Ile289Met) | |
| 2 | g.48688675G>T | CA426124706 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1122C>A (p.Ile374=) c.948-536C>A (n.948-536C>A) c.3441+16995G>T (n.3441+16995G>T) c.948-92C>A (n.948-92C>A) c.1041C>A (p.Ile347=) c.276+16995G>T (n.276+16995G>T) c.*220+5549C>A (n.*220+5549C>A) c.165C>A (p.Ile55=) c.192C>A (p.Ile64=) c.1047C>A (p.Ile349=) c.861C>A (p.Ile287=) c.780C>A (p.Ile260=) c.486C>A (p.Ile162=) c.867C>A (p.Ile289=) | |
| 2 | g.48688676A= | CA1248601229 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1121T= (p.Ile374=) c.948-537T= (n.948-537T=) c.3441+16996A= (n.3441+16996A=) c.948-93T= (n.948-93T=) c.1040T= (p.Ile347=) c.276+16996A= (n.276+16996A=) c.*220+5548T= (n.*220+5548T=) c.164T= (p.Ile55=) c.191T= (p.Ile64=) c.1046T= (p.Ile349=) c.860T= (p.Ile287=) c.779T= (p.Ile260=) c.485T= (p.Ile162=) c.866T= (p.Ile289=) | |
| 2 | g.48688676A>C | CA346749566 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1121T>G (p.Ile374Ser) c.948-537T>G (n.948-537T>G) c.3441+16996A>C (n.3441+16996A>C) c.948-93T>G (n.948-93T>G) c.1040T>G (p.Ile347Ser) c.276+16996A>C (n.276+16996A>C) c.*220+5548T>G (n.*220+5548T>G) c.164T>G (p.Ile55Ser) c.191T>G (p.Ile64Ser) c.1046T>G (p.Ile349Ser) c.860T>G (p.Ile287Ser) c.779T>G (p.Ile260Ser) c.485T>G (p.Ile162Ser) c.866T>G (p.Ile289Ser) | |
| 2 | g.48688676A>G | CA346749569 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1121T>C (p.Ile374Thr) c.948-537T>C (n.948-537T>C) c.3441+16996A>G (n.3441+16996A>G) c.948-93T>C (n.948-93T>C) c.1040T>C (p.Ile347Thr) c.276+16996A>G (n.276+16996A>G) c.*220+5548T>C (n.*220+5548T>C) c.164T>C (p.Ile55Thr) c.191T>C (p.Ile64Thr) c.1046T>C (p.Ile349Thr) c.860T>C (p.Ile287Thr) c.779T>C (p.Ile260Thr) c.485T>C (p.Ile162Thr) c.866T>C (p.Ile289Thr) | dbSNP |
| 2 | g.48688676A>T | CA346749572 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1121T>A (p.Ile374Asn) c.948-537T>A (n.948-537T>A) c.3441+16996A>T (n.3441+16996A>T) c.948-93T>A (n.948-93T>A) c.1040T>A (p.Ile347Asn) c.276+16996A>T (n.276+16996A>T) c.*220+5548T>A (n.*220+5548T>A) c.164T>A (p.Ile55Asn) c.191T>A (p.Ile64Asn) c.1046T>A (p.Ile349Asn) c.860T>A (p.Ile287Asn) c.779T>A (p.Ile260Asn) c.485T>A (p.Ile162Asn) c.866T>A (p.Ile289Asn) | |
| 2 | g.48688677T>A | CA346749575 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1120A>T (p.Ile374Phe) c.948-538A>T (n.948-538A>T) c.3441+16997T>A (n.3441+16997T>A) c.948-94A>T (n.948-94A>T) c.1039A>T (p.Ile347Phe) c.276+16997T>A (n.276+16997T>A) c.*220+5547A>T (n.*220+5547A>T) c.163A>T (p.Ile55Phe) c.190A>T (p.Ile64Phe) c.1045A>T (p.Ile349Phe) c.859A>T (p.Ile287Phe) c.778A>T (p.Ile260Phe) c.484A>T (p.Ile162Phe) c.865A>T (p.Ile289Phe) | |
| 2 | g.48688677T>C | CA346749576 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1120A>G (p.Ile374Val) c.948-538A>G (n.948-538A>G) c.3441+16997T>C (n.3441+16997T>C) c.948-94A>G (n.948-94A>G) c.1039A>G (p.Ile347Val) c.276+16997T>C (n.276+16997T>C) c.*220+5547A>G (n.*220+5547A>G) c.163A>G (p.Ile55Val) c.190A>G (p.Ile64Val) c.1045A>G (p.Ile349Val) c.859A>G (p.Ile287Val) c.778A>G (p.Ile260Val) c.484A>G (p.Ile162Val) c.865A>G (p.Ile289Val) | |
| 2 | g.48688677T>G | CA346749578 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1120A>C (p.Ile374Leu) c.948-538A>C (n.948-538A>C) c.3441+16997T>G (n.3441+16997T>G) c.948-94A>C (n.948-94A>C) c.1039A>C (p.Ile347Leu) c.276+16997T>G (n.276+16997T>G) c.*220+5547A>C (n.*220+5547A>C) c.163A>C (p.Ile55Leu) c.190A>C (p.Ile64Leu) c.1045A>C (p.Ile349Leu) c.859A>C (p.Ile287Leu) c.778A>C (p.Ile260Leu) c.484A>C (p.Ile162Leu) c.865A>C (p.Ile289Leu) | |
| 2 | g.48688678G>A | CA426124708 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1119C>T (p.Ala373=) c.948-539C>T (n.948-539C>T) c.3441+16998G>A (n.3441+16998G>A) c.948-95C>T (n.948-95C>T) c.1038C>T (p.Ala346=) c.276+16998G>A (n.276+16998G>A) c.*220+5546C>T (n.*220+5546C>T) c.162C>T (p.Ala54=) c.189C>T (p.Ala63=) c.1044C>T (p.Ala348=) c.858C>T (p.Ala286=) c.777C>T (p.Ala259=) c.483C>T (p.Ala161=) c.864C>T (p.Ala288=) | |
| 2 | g.48688678G>C | CA426124709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1119C>G (p.Ala373=) c.948-539C>G (n.948-539C>G) c.3441+16998G>C (n.3441+16998G>C) c.948-95C>G (n.948-95C>G) c.1038C>G (p.Ala346=) c.276+16998G>C (n.276+16998G>C) c.*220+5546C>G (n.*220+5546C>G) c.162C>G (p.Ala54=) c.189C>G (p.Ala63=) c.1044C>G (p.Ala348=) c.858C>G (p.Ala286=) c.777C>G (p.Ala259=) c.483C>G (p.Ala161=) c.864C>G (p.Ala288=) | |
| 2 | g.48688678G>T | CA426124710 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1119C>A (p.Ala373=) c.948-539C>A (n.948-539C>A) c.3441+16998G>T (n.3441+16998G>T) c.948-95C>A (n.948-95C>A) c.1038C>A (p.Ala346=) c.276+16998G>T (n.276+16998G>T) c.*220+5546C>A (n.*220+5546C>A) c.162C>A (p.Ala54=) c.189C>A (p.Ala63=) c.1044C>A (p.Ala348=) c.858C>A (p.Ala286=) c.777C>A (p.Ala259=) c.483C>A (p.Ala161=) c.864C>A (p.Ala288=) | |
| 2 | g.48688679G>A | CA123926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C>T (p.Ala373Val) c.948-540C>T (n.948-540C>T) c.3441+16999G>A (n.3441+16999G>A) c.948-96C>T (n.948-96C>T) c.1037C>T (p.Ala346Val) c.276+16999G>A (n.276+16999G>A) c.*220+5545C>T (n.*220+5545C>T) c.161C>T (p.Ala54Val) c.188C>T (p.Ala63Val) c.1043C>T (p.Ala348Val) c.857C>T (p.Ala286Val) c.776C>T (p.Ala259Val) c.482C>T (p.Ala161Val) c.863C>T (p.Ala288Val) | ClinVar dbSNP |
| 2 | g.48688679G>C | CA346749581 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C>G (p.Ala373Gly) c.948-540C>G (n.948-540C>G) c.3441+16999G>C (n.3441+16999G>C) c.948-96C>G (n.948-96C>G) c.1037C>G (p.Ala346Gly) c.276+16999G>C (n.276+16999G>C) c.*220+5545C>G (n.*220+5545C>G) c.161C>G (p.Ala54Gly) c.188C>G (p.Ala63Gly) c.1043C>G (p.Ala348Gly) c.857C>G (p.Ala286Gly) c.776C>G (p.Ala259Gly) c.482C>G (p.Ala161Gly) c.863C>G (p.Ala288Gly) | |
| 2 | g.48688679G= | CA1248601230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C= (p.Ala373=) c.948-540C= (n.948-540C=) c.3441+16999G= (n.3441+16999G=) c.948-96C= (n.948-96C=) c.1037C= (p.Ala346=) c.276+16999G= (n.276+16999G=) c.*220+5545C= (n.*220+5545C=) c.161C= (p.Ala54=) c.188C= (p.Ala63=) c.1043C= (p.Ala348=) c.857C= (p.Ala286=) c.776C= (p.Ala259=) c.482C= (p.Ala161=) c.863C= (p.Ala288=) | |
| 2 | g.48688679G>T | CA346749584 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C>A (p.Ala373Asp) c.948-540C>A (n.948-540C>A) c.3441+16999G>T (n.3441+16999G>T) c.948-96C>A (n.948-96C>A) c.1037C>A (p.Ala346Asp) c.276+16999G>T (n.276+16999G>T) c.*220+5545C>A (n.*220+5545C>A) c.161C>A (p.Ala54Asp) c.188C>A (p.Ala63Asp) c.1043C>A (p.Ala348Asp) c.857C>A (p.Ala286Asp) c.776C>A (p.Ala259Asp) c.482C>A (p.Ala161Asp) c.863C>A (p.Ala288Asp) | |
| 2 | g.48688680C>A | CA346749587 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1117G>T (p.Ala373Ser) c.948-541G>T (n.948-541G>T) c.3441+17000C>A (n.3441+17000C>A) c.948-97G>T (n.948-97G>T) c.1036G>T (p.Ala346Ser) c.276+17000C>A (n.276+17000C>A) c.*220+5544G>T (n.*220+5544G>T) c.160G>T (p.Ala54Ser) c.187G>T (p.Ala63Ser) c.1042G>T (p.Ala348Ser) c.856G>T (p.Ala286Ser) c.775G>T (p.Ala259Ser) c.481G>T (p.Ala161Ser) c.862G>T (p.Ala288Ser) | gnomAD v4 |
| 2 | g.48688680C>G | CA346749591 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1117G>C (p.Ala373Pro) c.948-541G>C (n.948-541G>C) c.3441+17000C>G (n.3441+17000C>G) c.948-97G>C (n.948-97G>C) c.1036G>C (p.Ala346Pro) c.276+17000C>G (n.276+17000C>G) c.*220+5544G>C (n.*220+5544G>C) c.160G>C (p.Ala54Pro) c.187G>C (p.Ala63Pro) c.1042G>C (p.Ala348Pro) c.856G>C (p.Ala286Pro) c.775G>C (p.Ala259Pro) c.481G>C (p.Ala161Pro) c.862G>C (p.Ala288Pro) | |
| 2 | g.48688680C>T | CA346749585 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1117G>A (p.Ala373Thr) c.948-541G>A (n.948-541G>A) c.3441+17000C>T (n.3441+17000C>T) c.948-97G>A (n.948-97G>A) c.1036G>A (p.Ala346Thr) c.276+17000C>T (n.276+17000C>T) c.*220+5544G>A (n.*220+5544G>A) c.160G>A (p.Ala54Thr) c.187G>A (p.Ala63Thr) c.1042G>A (p.Ala348Thr) c.856G>A (p.Ala286Thr) c.775G>A (p.Ala259Thr) c.481G>A (p.Ala161Thr) c.862G>A (p.Ala288Thr) | gnomAD v4 |
| 2 | g.48688681T>A | CA426124713 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1116A>T (p.Leu372=) c.948-542A>T (n.948-542A>T) c.3441+17001T>A (n.3441+17001T>A) c.948-98A>T (n.948-98A>T) c.1035A>T (p.Leu345=) c.276+17001T>A (n.276+17001T>A) c.*220+5543A>T (n.*220+5543A>T) c.159A>T (p.Leu53=) c.186A>T (p.Leu62=) c.1041A>T (p.Leu347=) c.855A>T (p.Leu285=) c.774A>T (p.Leu258=) c.480A>T (p.Leu160=) c.861A>T (p.Leu287=) | gnomAD v4 |
| 2 | g.48688681T>C | CA426124714 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1116A>G (p.Leu372=) c.948-542A>G (n.948-542A>G) c.3441+17001T>C (n.3441+17001T>C) c.948-98A>G (n.948-98A>G) c.1035A>G (p.Leu345=) c.276+17001T>C (n.276+17001T>C) c.*220+5543A>G (n.*220+5543A>G) c.159A>G (p.Leu53=) c.186A>G (p.Leu62=) c.1041A>G (p.Leu347=) c.855A>G (p.Leu285=) c.774A>G (p.Leu258=) c.480A>G (p.Leu160=) c.861A>G (p.Leu287=) | |
| 2 | g.48688681T>G | CA426124715 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1116A>C (p.Leu372=) c.948-542A>C (n.948-542A>C) c.3441+17001T>G (n.3441+17001T>G) c.948-98A>C (n.948-98A>C) c.1035A>C (p.Leu345=) c.276+17001T>G (n.276+17001T>G) c.*220+5543A>C (n.*220+5543A>C) c.159A>C (p.Leu53=) c.186A>C (p.Leu62=) c.1041A>C (p.Leu347=) c.855A>C (p.Leu285=) c.774A>C (p.Leu258=) c.480A>C (p.Leu160=) c.861A>C (p.Leu287=) | |
| 2 | g.48688683_48688687del | CA2658992087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1112_1116del (p.Ile371SerfsTer?) c.948-546_948-542del (n.948-546_948-542del) c.3441+17003_3441+17007del (n.3441+17003_3441+17007del) c.948-102_948-98del (n.948-102_948-98del) c.1031_1035del (p.Ile344SerfsTer?) c.276+17003_276+17007del (n.276+17003_276+17007del) c.*220+5539_*220+5543del (n.*220+5539_*220+5543del) c.155_159del (p.Ile52SerfsTer?) c.182_186del (p.Ile61SerfsTer?) c.1037_1041del (p.Ile346SerfsTer?) c.851_855del (p.Ile284SerfsTer?) c.770_774del (p.Ile257SerfsTer?) c.476_480del (p.Ile159SerfsTer?) c.857_861del (p.Ile286SerfsTer?) | gnomAD v4 |
| 2 | g.48688682A>C | CA346749600 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1115T>G (p.Leu372Arg) c.948-543T>G (n.948-543T>G) c.3441+17002A>C (n.3441+17002A>C) c.948-99T>G (n.948-99T>G) c.1034T>G (p.Leu345Arg) c.276+17002A>C (n.276+17002A>C) c.*220+5542T>G (n.*220+5542T>G) c.158T>G (p.Leu53Arg) c.185T>G (p.Leu62Arg) c.1040T>G (p.Leu347Arg) c.854T>G (p.Leu285Arg) c.773T>G (p.Leu258Arg) c.479T>G (p.Leu160Arg) c.860T>G (p.Leu287Arg) | |
| 2 | g.48688682A>G | CA346749595 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1115T>C (p.Leu372Pro) c.948-543T>C (n.948-543T>C) c.3441+17002A>G (n.3441+17002A>G) c.948-99T>C (n.948-99T>C) c.1034T>C (p.Leu345Pro) c.276+17002A>G (n.276+17002A>G) c.*220+5542T>C (n.*220+5542T>C) c.158T>C (p.Leu53Pro) c.185T>C (p.Leu62Pro) c.1040T>C (p.Leu347Pro) c.854T>C (p.Leu285Pro) c.773T>C (p.Leu258Pro) c.479T>C (p.Leu160Pro) c.860T>C (p.Leu287Pro) | |
| 2 | g.48688682A>T | CA346749598 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1115T>A (p.Leu372Gln) c.948-543T>A (n.948-543T>A) c.3441+17002A>T (n.3441+17002A>T) c.948-99T>A (n.948-99T>A) c.1034T>A (p.Leu345Gln) c.276+17002A>T (n.276+17002A>T) c.*220+5542T>A (n.*220+5542T>A) c.158T>A (p.Leu53Gln) c.185T>A (p.Leu62Gln) c.1040T>A (p.Leu347Gln) c.854T>A (p.Leu285Gln) c.773T>A (p.Leu258Gln) c.479T>A (p.Leu160Gln) c.860T>A (p.Leu287Gln) | |
| 2 | g.48688683G>A | CA426124716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1114C>T (p.Leu372=) c.948-544C>T (n.948-544C>T) c.3441+17003G>A (n.3441+17003G>A) c.948-100C>T (n.948-100C>T) c.1033C>T (p.Leu345=) c.276+17003G>A (n.276+17003G>A) c.*220+5541C>T (n.*220+5541C>T) c.157C>T (p.Leu53=) c.184C>T (p.Leu62=) c.1039C>T (p.Leu347=) c.853C>T (p.Leu285=) c.772C>T (p.Leu258=) c.478C>T (p.Leu160=) c.859C>T (p.Leu287=) | |
| 2 | g.48688683G>C | CA346749603 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1114C>G (p.Leu372Val) c.948-544C>G (n.948-544C>G) c.3441+17003G>C (n.3441+17003G>C) c.948-100C>G (n.948-100C>G) c.1033C>G (p.Leu345Val) c.276+17003G>C (n.276+17003G>C) c.*220+5541C>G (n.*220+5541C>G) c.157C>G (p.Leu53Val) c.184C>G (p.Leu62Val) c.1039C>G (p.Leu347Val) c.853C>G (p.Leu285Val) c.772C>G (p.Leu258Val) c.478C>G (p.Leu160Val) c.859C>G (p.Leu287Val) | |
| 2 | g.48688683G>T | CA346749606 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1114C>A (p.Leu372Ile) c.948-544C>A (n.948-544C>A) c.3441+17003G>T (n.3441+17003G>T) c.948-100C>A (n.948-100C>A) c.1033C>A (p.Leu345Ile) c.276+17003G>T (n.276+17003G>T) c.*220+5541C>A (n.*220+5541C>A) c.157C>A (p.Leu53Ile) c.184C>A (p.Leu62Ile) c.1039C>A (p.Leu347Ile) c.853C>A (p.Leu285Ile) c.772C>A (p.Leu258Ile) c.478C>A (p.Leu160Ile) c.859C>A (p.Leu287Ile) | |
| 2 | g.48688684A= | CA1248601231 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1113T= (p.Ile371=) c.948-545T= (n.948-545T=) c.3441+17004A= (n.3441+17004A=) c.948-101T= (n.948-101T=) c.1032T= (p.Ile344=) c.276+17004A= (n.276+17004A=) c.*220+5540T= (n.*220+5540T=) c.156T= (p.Ile52=) c.183T= (p.Ile61=) c.1038T= (p.Ile346=) c.852T= (p.Ile284=) c.771T= (p.Ile257=) c.477T= (p.Ile159=) c.858T= (p.Ile286=) | |
| 2 | g.48688684A>C | CA346749609 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1113T>G (p.Ile371Met) c.948-545T>G (n.948-545T>G) c.3441+17004A>C (n.3441+17004A>C) c.948-101T>G (n.948-101T>G) c.1032T>G (p.Ile344Met) c.276+17004A>C (n.276+17004A>C) c.*220+5540T>G (n.*220+5540T>G) c.156T>G (p.Ile52Met) c.183T>G (p.Ile61Met) c.1038T>G (p.Ile346Met) c.852T>G (p.Ile284Met) c.771T>G (p.Ile257Met) c.477T>G (p.Ile159Met) c.858T>G (p.Ile286Met) | |
| 2 | g.48688684A>G | CA1653079 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1113T>C (p.Ile371=) c.948-545T>C (n.948-545T>C) c.3441+17004A>G (n.3441+17004A>G) c.948-101T>C (n.948-101T>C) c.1032T>C (p.Ile344=) c.276+17004A>G (n.276+17004A>G) c.*220+5540T>C (n.*220+5540T>C) c.156T>C (p.Ile52=) c.183T>C (p.Ile61=) c.1038T>C (p.Ile346=) c.852T>C (p.Ile284=) c.771T>C (p.Ile257=) c.477T>C (p.Ile159=) c.858T>C (p.Ile286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |