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.48688641T>A | CA346749078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1156A>T (p.Thr386Ser) c.948-502A>T (n.948-502A>T) c.3441+16961T>A (n.3441+16961T>A) c.948-58A>T (n.948-58A>T) c.1075A>T (p.Thr359Ser) c.276+16961T>A (n.276+16961T>A) c.*220+5583A>T (n.*220+5583A>T) c.199A>T (p.Thr67Ser) c.226A>T (p.Thr76Ser) c.1081A>T (p.Thr361Ser) c.895A>T (p.Thr299Ser) c.814A>T (p.Thr272Ser) c.520A>T (p.Thr174Ser) c.901A>T (p.Thr301Ser) | |
| 2 | g.48688641T>C | CA346749091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1156A>G (p.Thr386Ala) c.948-502A>G (n.948-502A>G) c.3441+16961T>C (n.3441+16961T>C) c.948-58A>G (n.948-58A>G) c.1075A>G (p.Thr359Ala) c.276+16961T>C (n.276+16961T>C) c.*220+5583A>G (n.*220+5583A>G) c.199A>G (p.Thr67Ala) c.226A>G (p.Thr76Ala) c.1081A>G (p.Thr361Ala) c.895A>G (p.Thr299Ala) c.814A>G (p.Thr272Ala) c.520A>G (p.Thr174Ala) c.901A>G (p.Thr301Ala) | |
| 2 | g.48688641T>G | CA346749096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1156A>C (p.Thr386Pro) c.948-502A>C (n.948-502A>C) c.3441+16961T>G (n.3441+16961T>G) c.948-58A>C (n.948-58A>C) c.1075A>C (p.Thr359Pro) c.276+16961T>G (n.276+16961T>G) c.*220+5583A>C (n.*220+5583A>C) c.199A>C (p.Thr67Pro) c.226A>C (p.Thr76Pro) c.1081A>C (p.Thr361Pro) c.895A>C (p.Thr299Pro) c.814A>C (p.Thr272Pro) c.520A>C (p.Thr174Pro) c.901A>C (p.Thr301Pro) | |
| 2 | g.48688642C>A | CA426124596 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1155G>T (p.Leu385=) c.948-503G>T (n.948-503G>T) c.3441+16962C>A (n.3441+16962C>A) c.948-59G>T (n.948-59G>T) c.1074G>T (p.Leu358=) c.276+16962C>A (n.276+16962C>A) c.*220+5582G>T (n.*220+5582G>T) c.198G>T (p.Leu66=) c.225G>T (p.Leu75=) c.1080G>T (p.Leu360=) c.894G>T (p.Leu298=) c.813G>T (p.Leu271=) c.519G>T (p.Leu173=) c.900G>T (p.Leu300=) | |
| 2 | g.48688642C>G | CA426124597 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1155G>C (p.Leu385=) c.948-503G>C (n.948-503G>C) c.3441+16962C>G (n.3441+16962C>G) c.948-59G>C (n.948-59G>C) c.1074G>C (p.Leu358=) c.276+16962C>G (n.276+16962C>G) c.*220+5582G>C (n.*220+5582G>C) c.198G>C (p.Leu66=) c.225G>C (p.Leu75=) c.1080G>C (p.Leu360=) c.894G>C (p.Leu298=) c.813G>C (p.Leu271=) c.519G>C (p.Leu173=) c.900G>C (p.Leu300=) | gnomAD v4 |
| 2 | g.48688642C>T | CA426124595 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1155G>A (p.Leu385=) c.948-503G>A (n.948-503G>A) c.3441+16962C>T (n.3441+16962C>T) c.948-59G>A (n.948-59G>A) c.1074G>A (p.Leu358=) c.276+16962C>T (n.276+16962C>T) c.*220+5582G>A (n.*220+5582G>A) c.198G>A (p.Leu66=) c.225G>A (p.Leu75=) c.1080G>A (p.Leu360=) c.894G>A (p.Leu298=) c.813G>A (p.Leu271=) c.519G>A (p.Leu173=) c.900G>A (p.Leu300=) | |
| 2 | g.48688643A= | CA1248601217 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1154T= (p.Leu385=) c.948-504T= (n.948-504T=) c.3441+16963A= (n.3441+16963A=) c.948-60T= (n.948-60T=) c.1073T= (p.Leu358=) c.276+16963A= (n.276+16963A=) c.*220+5581T= (n.*220+5581T=) c.197T= (p.Leu66=) c.224T= (p.Leu75=) c.1079T= (p.Leu360=) c.893T= (p.Leu298=) c.812T= (p.Leu271=) c.518T= (p.Leu173=) c.899T= (p.Leu300=) | |
| 2 | g.48688643A>C | CA346749104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1154T>G (p.Leu385Arg) c.948-504T>G (n.948-504T>G) c.3441+16963A>C (n.3441+16963A>C) c.948-60T>G (n.948-60T>G) c.1073T>G (p.Leu358Arg) c.276+16963A>C (n.276+16963A>C) c.*220+5581T>G (n.*220+5581T>G) c.197T>G (p.Leu66Arg) c.224T>G (p.Leu75Arg) c.1079T>G (p.Leu360Arg) c.893T>G (p.Leu298Arg) c.812T>G (p.Leu271Arg) c.518T>G (p.Leu173Arg) c.899T>G (p.Leu300Arg) | |
| 2 | g.48688643A>G | CA346749105 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1154T>C (p.Leu385Pro) c.948-504T>C (n.948-504T>C) c.3441+16963A>G (n.3441+16963A>G) c.948-60T>C (n.948-60T>C) c.1073T>C (p.Leu358Pro) c.276+16963A>G (n.276+16963A>G) c.*220+5581T>C (n.*220+5581T>C) c.197T>C (p.Leu66Pro) c.224T>C (p.Leu75Pro) c.1079T>C (p.Leu360Pro) c.893T>C (p.Leu298Pro) c.812T>C (p.Leu271Pro) c.518T>C (p.Leu173Pro) c.899T>C (p.Leu300Pro) | |
| 2 | g.48688643A>T | CA46753220 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1154T>A (p.Leu385Gln) c.948-504T>A (n.948-504T>A) c.3441+16963A>T (n.3441+16963A>T) c.948-60T>A (n.948-60T>A) c.1073T>A (p.Leu358Gln) c.276+16963A>T (n.276+16963A>T) c.*220+5581T>A (n.*220+5581T>A) c.197T>A (p.Leu66Gln) c.224T>A (p.Leu75Gln) c.1079T>A (p.Leu360Gln) c.893T>A (p.Leu298Gln) c.812T>A (p.Leu271Gln) c.518T>A (p.Leu173Gln) c.899T>A (p.Leu300Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48688644G>A | CA426124669 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1153C>T (p.Leu385=) c.948-505C>T (n.948-505C>T) c.3441+16964G>A (n.3441+16964G>A) c.948-61C>T (n.948-61C>T) c.1072C>T (p.Leu358=) c.276+16964G>A (n.276+16964G>A) c.*220+5580C>T (n.*220+5580C>T) c.196C>T (p.Leu66=) c.223C>T (p.Leu75=) c.1078C>T (p.Leu360=) c.892C>T (p.Leu298=) c.811C>T (p.Leu271=) c.517C>T (p.Leu173=) c.898C>T (p.Leu300=) | |
| 2 | g.48688644G>C | CA346749109 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1153C>G (p.Leu385Val) c.948-505C>G (n.948-505C>G) c.3441+16964G>C (n.3441+16964G>C) c.948-61C>G (n.948-61C>G) c.1072C>G (p.Leu358Val) c.276+16964G>C (n.276+16964G>C) c.*220+5580C>G (n.*220+5580C>G) c.196C>G (p.Leu66Val) c.223C>G (p.Leu75Val) c.1078C>G (p.Leu360Val) c.892C>G (p.Leu298Val) c.811C>G (p.Leu271Val) c.517C>G (p.Leu173Val) c.898C>G (p.Leu300Val) | |
| 2 | g.48688644G>T | CA346749110 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1153C>A (p.Leu385Met) c.948-505C>A (n.948-505C>A) c.3441+16964G>T (n.3441+16964G>T) c.948-61C>A (n.948-61C>A) c.1072C>A (p.Leu358Met) c.276+16964G>T (n.276+16964G>T) c.*220+5580C>A (n.*220+5580C>A) c.196C>A (p.Leu66Met) c.223C>A (p.Leu75Met) c.1078C>A (p.Leu360Met) c.892C>A (p.Leu298Met) c.811C>A (p.Leu271Met) c.517C>A (p.Leu173Met) c.898C>A (p.Leu300Met) | |
| 2 | g.48688645G>A | CA426124670 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1152C>T (p.Leu384=) c.948-506C>T (n.948-506C>T) c.3441+16965G>A (n.3441+16965G>A) c.948-62C>T (n.948-62C>T) c.1071C>T (p.Leu357=) c.276+16965G>A (n.276+16965G>A) c.*220+5579C>T (n.*220+5579C>T) c.195C>T (p.Leu65=) c.222C>T (p.Leu74=) c.1077C>T (p.Leu359=) c.891C>T (p.Leu297=) c.810C>T (p.Leu270=) c.516C>T (p.Leu172=) c.897C>T (p.Leu299=) | |
| 2 | g.48688645G>C | CA426124671 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1152C>G (p.Leu384=) c.948-506C>G (n.948-506C>G) c.3441+16965G>C (n.3441+16965G>C) c.948-62C>G (n.948-62C>G) c.1071C>G (p.Leu357=) c.276+16965G>C (n.276+16965G>C) c.*220+5579C>G (n.*220+5579C>G) c.195C>G (p.Leu65=) c.222C>G (p.Leu74=) c.1077C>G (p.Leu359=) c.891C>G (p.Leu297=) c.810C>G (p.Leu270=) c.516C>G (p.Leu172=) c.897C>G (p.Leu299=) | |
| 2 | g.48688645G>T | CA426124673 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1152C>A (p.Leu384=) c.948-506C>A (n.948-506C>A) c.3441+16965G>T (n.3441+16965G>T) c.948-62C>A (n.948-62C>A) c.1071C>A (p.Leu357=) c.276+16965G>T (n.276+16965G>T) c.*220+5579C>A (n.*220+5579C>A) c.195C>A (p.Leu65=) c.222C>A (p.Leu74=) c.1077C>A (p.Leu359=) c.891C>A (p.Leu297=) c.810C>A (p.Leu270=) c.516C>A (p.Leu172=) c.897C>A (p.Leu299=) | |
| 2 | g.48688646A>C | CA346749114 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1151T>G (p.Leu384Arg) c.948-507T>G (n.948-507T>G) c.3441+16966A>C (n.3441+16966A>C) c.948-63T>G (n.948-63T>G) c.1070T>G (p.Leu357Arg) c.276+16966A>C (n.276+16966A>C) c.*220+5578T>G (n.*220+5578T>G) c.194T>G (p.Leu65Arg) c.221T>G (p.Leu74Arg) c.1076T>G (p.Leu359Arg) c.890T>G (p.Leu297Arg) c.809T>G (p.Leu270Arg) c.515T>G (p.Leu172Arg) c.896T>G (p.Leu299Arg) | |
| 2 | g.48688646A>G | CA346749132 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1151T>C (p.Leu384Pro) c.948-507T>C (n.948-507T>C) c.3441+16966A>G (n.3441+16966A>G) c.948-63T>C (n.948-63T>C) c.1070T>C (p.Leu357Pro) c.276+16966A>G (n.276+16966A>G) c.*220+5578T>C (n.*220+5578T>C) c.194T>C (p.Leu65Pro) c.221T>C (p.Leu74Pro) c.1076T>C (p.Leu359Pro) c.890T>C (p.Leu297Pro) c.809T>C (p.Leu270Pro) c.515T>C (p.Leu172Pro) c.896T>C (p.Leu299Pro) | gnomAD v4 COSMIC |
| 2 | g.48688646A>T | CA346749111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1151T>A (p.Leu384His) c.948-507T>A (n.948-507T>A) c.3441+16966A>T (n.3441+16966A>T) c.948-63T>A (n.948-63T>A) c.1070T>A (p.Leu357His) c.276+16966A>T (n.276+16966A>T) c.*220+5578T>A (n.*220+5578T>A) c.194T>A (p.Leu65His) c.221T>A (p.Leu74His) c.1076T>A (p.Leu359His) c.890T>A (p.Leu297His) c.809T>A (p.Leu270His) c.515T>A (p.Leu172His) c.896T>A (p.Leu299His) | |
| 2 | g.48688647G>A | CA346749136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1150C>T (p.Leu384Phe) c.948-508C>T (n.948-508C>T) c.3441+16967G>A (n.3441+16967G>A) c.948-64C>T (n.948-64C>T) c.1069C>T (p.Leu357Phe) c.276+16967G>A (n.276+16967G>A) c.*220+5577C>T (n.*220+5577C>T) c.193C>T (p.Leu65Phe) c.220C>T (p.Leu74Phe) c.1075C>T (p.Leu359Phe) c.889C>T (p.Leu297Phe) c.808C>T (p.Leu270Phe) c.514C>T (p.Leu172Phe) c.895C>T (p.Leu299Phe) | |
| 2 | g.48688647G>C | CA346749138 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1150C>G (p.Leu384Val) c.948-508C>G (n.948-508C>G) c.3441+16967G>C (n.3441+16967G>C) c.948-64C>G (n.948-64C>G) c.1069C>G (p.Leu357Val) c.276+16967G>C (n.276+16967G>C) c.*220+5577C>G (n.*220+5577C>G) c.193C>G (p.Leu65Val) c.220C>G (p.Leu74Val) c.1075C>G (p.Leu359Val) c.889C>G (p.Leu297Val) c.808C>G (p.Leu270Val) c.514C>G (p.Leu172Val) c.895C>G (p.Leu299Val) | |
| 2 | g.48688647G>T | CA346749140 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1150C>A (p.Leu384Ile) c.948-508C>A (n.948-508C>A) c.3441+16967G>T (n.3441+16967G>T) c.948-64C>A (n.948-64C>A) c.1069C>A (p.Leu357Ile) c.276+16967G>T (n.276+16967G>T) c.*220+5577C>A (n.*220+5577C>A) c.193C>A (p.Leu65Ile) c.220C>A (p.Leu74Ile) c.1075C>A (p.Leu359Ile) c.889C>A (p.Leu297Ile) c.808C>A (p.Leu270Ile) c.514C>A (p.Leu172Ile) c.895C>A (p.Leu299Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.48688648A>C | CA426124674 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1149T>G (p.Val383=) c.948-509T>G (n.948-509T>G) c.3441+16968A>C (n.3441+16968A>C) c.948-65T>G (n.948-65T>G) c.1068T>G (p.Val356=) c.276+16968A>C (n.276+16968A>C) c.*220+5576T>G (n.*220+5576T>G) c.192T>G (p.Val64=) c.219T>G (p.Val73=) c.1074T>G (p.Val358=) c.888T>G (p.Val296=) c.807T>G (p.Val269=) c.513T>G (p.Val171=) c.894T>G (p.Val298=) | |
| 2 | g.48688648A>G | CA426124675 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1149T>C (p.Val383=) c.948-509T>C (n.948-509T>C) c.3441+16968A>G (n.3441+16968A>G) c.948-65T>C (n.948-65T>C) c.1068T>C (p.Val356=) c.276+16968A>G (n.276+16968A>G) c.*220+5576T>C (n.*220+5576T>C) c.192T>C (p.Val64=) c.219T>C (p.Val73=) c.1074T>C (p.Val358=) c.888T>C (p.Val296=) c.807T>C (p.Val269=) c.513T>C (p.Val171=) c.894T>C (p.Val298=) | |
| 2 | g.48688648A>T | CA426124677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1149T>A (p.Val383=) c.948-509T>A (n.948-509T>A) c.3441+16968A>T (n.3441+16968A>T) c.948-65T>A (n.948-65T>A) c.1068T>A (p.Val356=) c.276+16968A>T (n.276+16968A>T) c.*220+5576T>A (n.*220+5576T>A) c.192T>A (p.Val64=) c.219T>A (p.Val73=) c.1074T>A (p.Val358=) c.888T>A (p.Val296=) c.807T>A (p.Val269=) c.513T>A (p.Val171=) c.894T>A (p.Val298=) | |
| 2 | g.48688649A>C | CA346749144 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1148T>G (p.Val383Gly) c.948-510T>G (n.948-510T>G) c.3441+16969A>C (n.3441+16969A>C) c.948-66T>G (n.948-66T>G) c.1067T>G (p.Val356Gly) c.276+16969A>C (n.276+16969A>C) c.*220+5575T>G (n.*220+5575T>G) c.191T>G (p.Val64Gly) c.218T>G (p.Val73Gly) c.1073T>G (p.Val358Gly) c.887T>G (p.Val296Gly) c.806T>G (p.Val269Gly) c.512T>G (p.Val171Gly) c.893T>G (p.Val298Gly) | |
| 2 | g.48688649A>G | CA346749147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1148T>C (p.Val383Ala) c.948-510T>C (n.948-510T>C) c.3441+16969A>G (n.3441+16969A>G) c.948-66T>C (n.948-66T>C) c.1067T>C (p.Val356Ala) c.276+16969A>G (n.276+16969A>G) c.*220+5575T>C (n.*220+5575T>C) c.191T>C (p.Val64Ala) c.218T>C (p.Val73Ala) c.1073T>C (p.Val358Ala) c.887T>C (p.Val296Ala) c.806T>C (p.Val269Ala) c.512T>C (p.Val171Ala) c.893T>C (p.Val298Ala) | |
| 2 | g.48688649A>T | CA346749150 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1148T>A (p.Val383Asp) c.948-510T>A (n.948-510T>A) c.3441+16969A>T (n.3441+16969A>T) c.948-66T>A (n.948-66T>A) c.1067T>A (p.Val356Asp) c.276+16969A>T (n.276+16969A>T) c.*220+5575T>A (n.*220+5575T>A) c.191T>A (p.Val64Asp) c.218T>A (p.Val73Asp) c.1073T>A (p.Val358Asp) c.887T>A (p.Val296Asp) c.806T>A (p.Val269Asp) c.512T>A (p.Val171Asp) c.893T>A (p.Val298Asp) | gnomAD v4 |
| 2 | g.48688650del | CA2552856205 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1147del (p.Val383PhefsTer3) c.948-511del (n.948-511del) c.3441+16970del (n.3441+16970del) c.948-67del (n.948-67del) c.1066del (p.Val356PhefsTer3) c.276+16970del (n.276+16970del) c.*220+5574del (n.*220+5574del) c.190del (p.Val64PhefsTer3) c.217del (p.Val73PhefsTer3) c.1072del (p.Val358PhefsTer3) c.886del (p.Val296PhefsTer3) c.805del (p.Val269PhefsTer3) c.511del (p.Val171PhefsTer3) c.892del (p.Val298PhefsTer3) | |
| 2 | g.48688650C>A | CA346749154 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1147G>T (p.Val383Phe) c.948-511G>T (n.948-511G>T) c.3441+16970C>A (n.3441+16970C>A) c.948-67G>T (n.948-67G>T) c.1066G>T (p.Val356Phe) c.276+16970C>A (n.276+16970C>A) c.*220+5574G>T (n.*220+5574G>T) c.190G>T (p.Val64Phe) c.217G>T (p.Val73Phe) c.1072G>T (p.Val358Phe) c.886G>T (p.Val296Phe) c.805G>T (p.Val269Phe) c.511G>T (p.Val171Phe) c.892G>T (p.Val298Phe) | |
| 2 | g.48688650C= | CA1248601218 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1147G= (p.Val383=) c.948-511G= (n.948-511G=) c.3441+16970C= (n.3441+16970C=) c.948-67G= (n.948-67G=) c.1066G= (p.Val356=) c.276+16970C= (n.276+16970C=) c.*220+5574G= (n.*220+5574G=) c.190G= (p.Val64=) c.217G= (p.Val73=) c.1072G= (p.Val358=) c.886G= (p.Val296=) c.805G= (p.Val269=) c.511G= (p.Val171=) c.892G= (p.Val298=) | |
| 2 | g.48688650C>G | CA346749158 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1147G>C (p.Val383Leu) c.948-511G>C (n.948-511G>C) c.3441+16970C>G (n.3441+16970C>G) c.948-67G>C (n.948-67G>C) c.1066G>C (p.Val356Leu) c.276+16970C>G (n.276+16970C>G) c.*220+5574G>C (n.*220+5574G>C) c.190G>C (p.Val64Leu) c.217G>C (p.Val73Leu) c.1072G>C (p.Val358Leu) c.886G>C (p.Val296Leu) c.805G>C (p.Val269Leu) c.511G>C (p.Val171Leu) c.892G>C (p.Val298Leu) | |
| 2 | g.48688650C>T | CA346749156 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1147G>A (p.Val383Ile) c.948-511G>A (n.948-511G>A) c.3441+16970C>T (n.3441+16970C>T) c.948-67G>A (n.948-67G>A) c.1066G>A (p.Val356Ile) c.276+16970C>T (n.276+16970C>T) c.*220+5574G>A (n.*220+5574G>A) c.190G>A (p.Val64Ile) c.217G>A (p.Val73Ile) c.1072G>A (p.Val358Ile) c.886G>A (p.Val296Ile) c.805G>A (p.Val269Ile) c.511G>A (p.Val171Ile) c.892G>A (p.Val298Ile) | dbSNP gnomAD v4 |
| 2 | g.48688651A>C | CA346749177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1146T>G (p.Phe382Leu) c.948-512T>G (n.948-512T>G) c.3441+16971A>C (n.3441+16971A>C) c.948-68T>G (n.948-68T>G) c.1065T>G (p.Phe355Leu) c.276+16971A>C (n.276+16971A>C) c.*220+5573T>G (n.*220+5573T>G) c.189T>G (p.Phe63Leu) c.216T>G (p.Phe72Leu) c.1071T>G (p.Phe357Leu) c.885T>G (p.Phe295Leu) c.804T>G (p.Phe268Leu) c.510T>G (p.Phe170Leu) c.891T>G (p.Phe297Leu) | gnomAD v4 |
| 2 | g.48688651A>G | CA426124678 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1146T>C (p.Phe382=) c.948-512T>C (n.948-512T>C) c.3441+16971A>G (n.3441+16971A>G) c.948-68T>C (n.948-68T>C) c.1065T>C (p.Phe355=) c.276+16971A>G (n.276+16971A>G) c.*220+5573T>C (n.*220+5573T>C) c.189T>C (p.Phe63=) c.216T>C (p.Phe72=) c.1071T>C (p.Phe357=) c.885T>C (p.Phe295=) c.804T>C (p.Phe268=) c.510T>C (p.Phe170=) c.891T>C (p.Phe297=) | gnomAD v4 |
| 2 | g.48688651A>T | CA346749179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1146T>A (p.Phe382Leu) c.948-512T>A (n.948-512T>A) c.3441+16971A>T (n.3441+16971A>T) c.948-68T>A (n.948-68T>A) c.1065T>A (p.Phe355Leu) c.276+16971A>T (n.276+16971A>T) c.*220+5573T>A (n.*220+5573T>A) c.189T>A (p.Phe63Leu) c.216T>A (p.Phe72Leu) c.1071T>A (p.Phe357Leu) c.885T>A (p.Phe295Leu) c.804T>A (p.Phe268Leu) c.510T>A (p.Phe170Leu) c.891T>A (p.Phe297Leu) | |
| 2 | g.48688652A>C | CA346749183 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1145T>G (p.Phe382Cys) c.948-513T>G (n.948-513T>G) c.3441+16972A>C (n.3441+16972A>C) c.948-69T>G (n.948-69T>G) c.1064T>G (p.Phe355Cys) c.276+16972A>C (n.276+16972A>C) c.*220+5572T>G (n.*220+5572T>G) c.188T>G (p.Phe63Cys) c.215T>G (p.Phe72Cys) c.1070T>G (p.Phe357Cys) c.884T>G (p.Phe295Cys) c.803T>G (p.Phe268Cys) c.509T>G (p.Phe170Cys) c.890T>G (p.Phe297Cys) | gnomAD v4 |
| 2 | g.48688652A>G | CA346749190 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1145T>C (p.Phe382Ser) c.948-513T>C (n.948-513T>C) c.3441+16972A>G (n.3441+16972A>G) c.948-69T>C (n.948-69T>C) c.1064T>C (p.Phe355Ser) c.276+16972A>G (n.276+16972A>G) c.*220+5572T>C (n.*220+5572T>C) c.188T>C (p.Phe63Ser) c.215T>C (p.Phe72Ser) c.1070T>C (p.Phe357Ser) c.884T>C (p.Phe295Ser) c.803T>C (p.Phe268Ser) c.509T>C (p.Phe170Ser) c.890T>C (p.Phe297Ser) | gnomAD v4 |
| 2 | g.48688652A>T | CA346749197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1145T>A (p.Phe382Tyr) c.948-513T>A (n.948-513T>A) c.3441+16972A>T (n.3441+16972A>T) c.948-69T>A (n.948-69T>A) c.1064T>A (p.Phe355Tyr) c.276+16972A>T (n.276+16972A>T) c.*220+5572T>A (n.*220+5572T>A) c.188T>A (p.Phe63Tyr) c.215T>A (p.Phe72Tyr) c.1070T>A (p.Phe357Tyr) c.884T>A (p.Phe295Tyr) c.803T>A (p.Phe268Tyr) c.509T>A (p.Phe170Tyr) c.890T>A (p.Phe297Tyr) | |
| 2 | g.48688653A>C | CA346749432 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1144T>G (p.Phe382Val) c.948-514T>G (n.948-514T>G) c.3441+16973A>C (n.3441+16973A>C) c.948-70T>G (n.948-70T>G) c.1063T>G (p.Phe355Val) c.276+16973A>C (n.276+16973A>C) c.*220+5571T>G (n.*220+5571T>G) c.187T>G (p.Phe63Val) c.214T>G (p.Phe72Val) c.1069T>G (p.Phe357Val) c.883T>G (p.Phe295Val) c.802T>G (p.Phe268Val) c.508T>G (p.Phe170Val) c.889T>G (p.Phe297Val) | |
| 2 | g.48688653A>G | CA346749431 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1144T>C (p.Phe382Leu) c.948-514T>C (n.948-514T>C) c.3441+16973A>G (n.3441+16973A>G) c.948-70T>C (n.948-70T>C) c.1063T>C (p.Phe355Leu) c.276+16973A>G (n.276+16973A>G) c.*220+5571T>C (n.*220+5571T>C) c.187T>C (p.Phe63Leu) c.214T>C (p.Phe72Leu) c.1069T>C (p.Phe357Leu) c.883T>C (p.Phe295Leu) c.802T>C (p.Phe268Leu) c.508T>C (p.Phe170Leu) c.889T>C (p.Phe297Leu) | |
| 2 | g.48688653A>T | CA346749428 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1144T>A (p.Phe382Ile) c.948-514T>A (n.948-514T>A) c.3441+16973A>T (n.3441+16973A>T) c.948-70T>A (n.948-70T>A) c.1063T>A (p.Phe355Ile) c.276+16973A>T (n.276+16973A>T) c.*220+5571T>A (n.*220+5571T>A) c.187T>A (p.Phe63Ile) c.214T>A (p.Phe72Ile) c.1069T>A (p.Phe357Ile) c.883T>A (p.Phe295Ile) c.802T>A (p.Phe268Ile) c.508T>A (p.Phe170Ile) c.889T>A (p.Phe297Ile) | |
| 2 | g.48688654A>C | CA426124682 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1143T>G (p.Leu381=) c.948-515T>G (n.948-515T>G) c.3441+16974A>C (n.3441+16974A>C) c.948-71T>G (n.948-71T>G) c.1062T>G (p.Leu354=) c.276+16974A>C (n.276+16974A>C) c.*220+5570T>G (n.*220+5570T>G) c.186T>G (p.Leu62=) c.213T>G (p.Leu71=) c.1068T>G (p.Leu356=) c.882T>G (p.Leu294=) c.801T>G (p.Leu267=) c.507T>G (p.Leu169=) c.888T>G (p.Leu296=) | |
| 2 | g.48688654A>G | CA426124683 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1143T>C (p.Leu381=) c.948-515T>C (n.948-515T>C) c.3441+16974A>G (n.3441+16974A>G) c.948-71T>C (n.948-71T>C) c.1062T>C (p.Leu354=) c.276+16974A>G (n.276+16974A>G) c.*220+5570T>C (n.*220+5570T>C) c.186T>C (p.Leu62=) c.213T>C (p.Leu71=) c.1068T>C (p.Leu356=) c.882T>C (p.Leu294=) c.801T>C (p.Leu267=) c.507T>C (p.Leu169=) c.888T>C (p.Leu296=) | |
| 2 | g.48688654A>T | CA426124684 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1143T>A (p.Leu381=) c.948-515T>A (n.948-515T>A) c.3441+16974A>T (n.3441+16974A>T) c.948-71T>A (n.948-71T>A) c.1062T>A (p.Leu354=) c.276+16974A>T (n.276+16974A>T) c.*220+5570T>A (n.*220+5570T>A) c.186T>A (p.Leu62=) c.213T>A (p.Leu71=) c.1068T>A (p.Leu356=) c.882T>A (p.Leu294=) c.801T>A (p.Leu267=) c.507T>A (p.Leu169=) c.888T>A (p.Leu296=) | gnomAD v4 |
| 2 | g.48688655A= | CA1248601219 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1142T= (p.Leu381=) c.948-516T= (n.948-516T=) c.3441+16975A= (n.3441+16975A=) c.948-72T= (n.948-72T=) c.1061T= (p.Leu354=) c.276+16975A= (n.276+16975A=) c.*220+5569T= (n.*220+5569T=) c.185T= (p.Leu62=) c.212T= (p.Leu71=) c.1067T= (p.Leu356=) c.881T= (p.Leu294=) c.800T= (p.Leu267=) c.506T= (p.Leu169=) c.887T= (p.Leu296=) | |
| 2 | g.48688655A>C | CA346749438 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1142T>G (p.Leu381Arg) c.948-516T>G (n.948-516T>G) c.3441+16975A>C (n.3441+16975A>C) c.948-72T>G (n.948-72T>G) c.1061T>G (p.Leu354Arg) c.276+16975A>C (n.276+16975A>C) c.*220+5569T>G (n.*220+5569T>G) c.185T>G (p.Leu62Arg) c.212T>G (p.Leu71Arg) c.1067T>G (p.Leu356Arg) c.881T>G (p.Leu294Arg) c.800T>G (p.Leu267Arg) c.506T>G (p.Leu169Arg) c.887T>G (p.Leu296Arg) | |
| 2 | g.48688655A>G | CA346749436 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1142T>C (p.Leu381Pro) c.948-516T>C (n.948-516T>C) c.3441+16975A>G (n.3441+16975A>G) c.948-72T>C (n.948-72T>C) c.1061T>C (p.Leu354Pro) c.276+16975A>G (n.276+16975A>G) c.*220+5569T>C (n.*220+5569T>C) c.185T>C (p.Leu62Pro) c.212T>C (p.Leu71Pro) c.1067T>C (p.Leu356Pro) c.881T>C (p.Leu294Pro) c.800T>C (p.Leu267Pro) c.506T>C (p.Leu169Pro) c.887T>C (p.Leu296Pro) | |
| 2 | g.48688655A>T | CA346749444 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1142T>A (p.Leu381His) c.948-516T>A (n.948-516T>A) c.3441+16975A>T (n.3441+16975A>T) c.948-72T>A (n.948-72T>A) c.1061T>A (p.Leu354His) c.276+16975A>T (n.276+16975A>T) c.*220+5569T>A (n.*220+5569T>A) c.185T>A (p.Leu62His) c.212T>A (p.Leu71His) c.1067T>A (p.Leu356His) c.881T>A (p.Leu294His) c.800T>A (p.Leu267His) c.506T>A (p.Leu169His) c.887T>A (p.Leu296His) | dbSNP |
| 2 | g.48688656del | CA2658992086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1141del (p.Leu381PhefsTer5) c.948-517del (n.948-517del) c.3441+16976del (n.3441+16976del) c.948-73del (n.948-73del) c.1060del (p.Leu354PhefsTer5) c.276+16976del (n.276+16976del) c.*220+5568del (n.*220+5568del) c.184del (p.Leu62PhefsTer5) c.211del (p.Leu71PhefsTer5) c.1066del (p.Leu356PhefsTer5) c.880del (p.Leu294PhefsTer5) c.799del (p.Leu267PhefsTer5) c.505del (p.Leu169PhefsTer5) c.886del (p.Leu296PhefsTer5) | gnomAD v4 |