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.48688556_48688600dup | CA1248601185 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1199_1243dup (p.Leu414_Ile415insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu) c.948-459_948-415dup (n.948-459_948-415dup) c.3441+16876_3441+16920dup (n.3441+16876_3441+16920dup) c.948-15_977dup c.1118_1162dup (p.Leu387_Ile388insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu) c.276+16876_276+16920dup (n.276+16876_276+16920dup) c.*220+5626_*220+5670dup (n.*220+5626_*220+5670dup) c.242_286dup (p.Leu95_Ile96insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu) c.269_313dup (p.Leu104_Ile105insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu) c.1124_1168dup (p.Leu389_Ile390insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu) c.938_982dup (p.Leu327_Ile328insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu) c.857_901dup (p.Leu300_Ile301insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu) c.563_607dup (p.Leu202_Ile203insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu) c.944_988dup (p.Leu329_Ile330insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu) | dbSNP |
| 2 | g.48688579A= | CA1248601194 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1218T= (p.Phe406=) c.948-440T= (n.948-440T=) c.3441+16899A= (n.3441+16899A=) c.952T= (p.Leu318=) c.1137T= (p.Phe379=) c.276+16899A= (n.276+16899A=) c.*220+5645T= (n.*220+5645T=) c.261T= (p.Phe87=) c.288T= (p.Phe96=) c.1143T= (p.Phe381=) c.957T= (p.Phe319=) c.876T= (p.Phe292=) c.582T= (p.Phe194=) c.963T= (p.Phe321=) | |
| 2 | g.48688579A>C | CA346748651 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1218T>G (p.Phe406Leu) c.948-440T>G (n.948-440T>G) c.3441+16899A>C (n.3441+16899A>C) c.952T>G (p.Leu318Val) c.1137T>G (p.Phe379Leu) c.276+16899A>C (n.276+16899A>C) c.*220+5645T>G (n.*220+5645T>G) c.261T>G (p.Phe87Leu) c.288T>G (p.Phe96Leu) c.1143T>G (p.Phe381Leu) c.957T>G (p.Phe319Leu) c.876T>G (p.Phe292Leu) c.582T>G (p.Phe194Leu) c.963T>G (p.Phe321Leu) | |
| 2 | g.48688579A>G | CA426124558 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1218T>C (p.Phe406=) c.948-440T>C (n.948-440T>C) c.3441+16899A>G (n.3441+16899A>G) c.952T>C (p.Leu318=) c.1137T>C (p.Phe379=) c.276+16899A>G (n.276+16899A>G) c.*220+5645T>C (n.*220+5645T>C) c.261T>C (p.Phe87=) c.288T>C (p.Phe96=) c.1143T>C (p.Phe381=) c.957T>C (p.Phe319=) c.876T>C (p.Phe292=) c.582T>C (p.Phe194=) c.963T>C (p.Phe321=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.48688579A>T | CA346748653 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1218T>A (p.Phe406Leu) c.948-440T>A (n.948-440T>A) c.3441+16899A>T (n.3441+16899A>T) c.952T>A (p.Leu318Met) c.1137T>A (p.Phe379Leu) c.276+16899A>T (n.276+16899A>T) c.*220+5645T>A (n.*220+5645T>A) c.261T>A (p.Phe87Leu) c.288T>A (p.Phe96Leu) c.1143T>A (p.Phe381Leu) c.957T>A (p.Phe319Leu) c.876T>A (p.Phe292Leu) c.582T>A (p.Phe194Leu) c.963T>A (p.Phe321Leu) | |
| 2 | g.48688580A= | CA1248601195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1217T= (p.Phe406=) c.948-441T= (n.948-441T=) c.3441+16900A= (n.3441+16900A=) c.951T= (p.Leu317=) c.1136T= (p.Phe379=) c.276+16900A= (n.276+16900A=) c.*220+5644T= (n.*220+5644T=) c.260T= (p.Phe87=) c.287T= (p.Phe96=) c.1142T= (p.Phe381=) c.956T= (p.Phe319=) c.875T= (p.Phe292=) c.581T= (p.Phe194=) c.962T= (p.Phe321=) | |
| 2 | g.48688580A>C | CA1653065 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1217T>G (p.Phe406Cys) c.948-441T>G (n.948-441T>G) c.3441+16900A>C (n.3441+16900A>C) c.951T>G (p.Leu317=) c.1136T>G (p.Phe379Cys) c.276+16900A>C (n.276+16900A>C) c.*220+5644T>G (n.*220+5644T>G) c.260T>G (p.Phe87Cys) c.287T>G (p.Phe96Cys) c.1142T>G (p.Phe381Cys) c.956T>G (p.Phe319Cys) c.875T>G (p.Phe292Cys) c.581T>G (p.Phe194Cys) c.962T>G (p.Phe321Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.48688580A>G | CA346748655 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1217T>C (p.Phe406Ser) c.948-441T>C (n.948-441T>C) c.3441+16900A>G (n.3441+16900A>G) c.951T>C (p.Leu317=) c.1136T>C (p.Phe379Ser) c.276+16900A>G (n.276+16900A>G) c.*220+5644T>C (n.*220+5644T>C) c.260T>C (p.Phe87Ser) c.287T>C (p.Phe96Ser) c.1142T>C (p.Phe381Ser) c.956T>C (p.Phe319Ser) c.875T>C (p.Phe292Ser) c.581T>C (p.Phe194Ser) c.962T>C (p.Phe321Ser) | |
| 2 | g.48688580A>T | CA346748658 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1217T>A (p.Phe406Tyr) c.948-441T>A (n.948-441T>A) c.3441+16900A>T (n.3441+16900A>T) c.951T>A (p.Leu317=) c.1136T>A (p.Phe379Tyr) c.276+16900A>T (n.276+16900A>T) c.*220+5644T>A (n.*220+5644T>A) c.260T>A (p.Phe87Tyr) c.287T>A (p.Phe96Tyr) c.1142T>A (p.Phe381Tyr) c.956T>A (p.Phe319Tyr) c.875T>A (p.Phe292Tyr) c.581T>A (p.Phe194Tyr) c.962T>A (p.Phe321Tyr) | |
| 2 | g.48688581A>C | CA346748663 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1216T>G (p.Phe406Val) c.948-442T>G (n.948-442T>G) c.3441+16901A>C (n.3441+16901A>C) c.950T>G (p.Leu317Arg) c.1135T>G (p.Phe379Val) c.276+16901A>C (n.276+16901A>C) c.*220+5643T>G (n.*220+5643T>G) c.259T>G (p.Phe87Val) c.286T>G (p.Phe96Val) c.1141T>G (p.Phe381Val) c.955T>G (p.Phe319Val) c.874T>G (p.Phe292Val) c.580T>G (p.Phe194Val) c.961T>G (p.Phe321Val) | |
| 2 | g.48688581A>G | CA346748665 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1216T>C (p.Phe406Leu) c.948-442T>C (n.948-442T>C) c.3441+16901A>G (n.3441+16901A>G) c.950T>C (p.Leu317Pro) c.1135T>C (p.Phe379Leu) c.276+16901A>G (n.276+16901A>G) c.*220+5643T>C (n.*220+5643T>C) c.259T>C (p.Phe87Leu) c.286T>C (p.Phe96Leu) c.1141T>C (p.Phe381Leu) c.955T>C (p.Phe319Leu) c.874T>C (p.Phe292Leu) c.580T>C (p.Phe194Leu) c.961T>C (p.Phe321Leu) | |
| 2 | g.48688581A>T | CA346748668 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1216T>A (p.Phe406Ile) c.948-442T>A (n.948-442T>A) c.3441+16901A>T (n.3441+16901A>T) c.950T>A (p.Leu317His) c.1135T>A (p.Phe379Ile) c.276+16901A>T (n.276+16901A>T) c.*220+5643T>A (n.*220+5643T>A) c.259T>A (p.Phe87Ile) c.286T>A (p.Phe96Ile) c.1141T>A (p.Phe381Ile) c.955T>A (p.Phe319Ile) c.874T>A (p.Phe292Ile) c.580T>A (p.Phe194Ile) c.961T>A (p.Phe321Ile) | |
| 2 | g.48688582G>A | CA346748670 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1215C>T (p.Asp405=) c.948-443C>T (n.948-443C>T) c.3441+16902G>A (n.3441+16902G>A) c.949C>T (p.Leu317Phe) c.1134C>T (p.Asp378=) c.276+16902G>A (n.276+16902G>A) c.*220+5642C>T (n.*220+5642C>T) c.258C>T (p.Asp86=) c.285C>T (p.Asp95=) c.1140C>T (p.Asp380=) c.954C>T (p.Asp318=) c.873C>T (p.Asp291=) c.579C>T (p.Asp193=) c.960C>T (p.Asp320=) | |
| 2 | g.48688582G>C | CA346748673 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1215C>G (p.Asp405Glu) c.948-443C>G (n.948-443C>G) c.3441+16902G>C (n.3441+16902G>C) c.949C>G (p.Leu317Val) c.1134C>G (p.Asp378Glu) c.276+16902G>C (n.276+16902G>C) c.*220+5642C>G (n.*220+5642C>G) c.258C>G (p.Asp86Glu) c.285C>G (p.Asp95Glu) c.1140C>G (p.Asp380Glu) c.954C>G (p.Asp318Glu) c.873C>G (p.Asp291Glu) c.579C>G (p.Asp193Glu) c.960C>G (p.Asp320Glu) | gnomAD v4 |
| 2 | g.48688582G>T | CA346748677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1215C>A (p.Asp405Glu) c.948-443C>A (n.948-443C>A) c.3441+16902G>T (n.3441+16902G>T) c.949C>A (p.Leu317Ile) c.1134C>A (p.Asp378Glu) c.276+16902G>T (n.276+16902G>T) c.*220+5642C>A (n.*220+5642C>A) c.258C>A (p.Asp86Glu) c.285C>A (p.Asp95Glu) c.1140C>A (p.Asp380Glu) c.954C>A (p.Asp318Glu) c.873C>A (p.Asp291Glu) c.579C>A (p.Asp193Glu) c.960C>A (p.Asp320Glu) | |
| 2 | g.48688583T>A | CA346748678 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1214A>T (p.Asp405Val) c.948-444A>T (n.948-444A>T) c.3441+16903T>A (n.3441+16903T>A) c.948A>T (p.Leu316=) c.1133A>T (p.Asp378Val) c.276+16903T>A (n.276+16903T>A) c.*220+5641A>T (n.*220+5641A>T) c.257A>T (p.Asp86Val) c.284A>T (p.Asp95Val) c.1139A>T (p.Asp380Val) c.953A>T (p.Asp318Val) c.872A>T (p.Asp291Val) c.578A>T (p.Asp193Val) c.959A>T (p.Asp320Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48688583T>C | CA346748680 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1214A>G (p.Asp405Gly) c.948-444A>G (n.948-444A>G) c.3441+16903T>C (n.3441+16903T>C) c.948A>G (p.Leu316=) c.1133A>G (p.Asp378Gly) c.276+16903T>C (n.276+16903T>C) c.*220+5641A>G (n.*220+5641A>G) c.257A>G (p.Asp86Gly) c.284A>G (p.Asp95Gly) c.1139A>G (p.Asp380Gly) c.953A>G (p.Asp318Gly) c.872A>G (p.Asp291Gly) c.578A>G (p.Asp193Gly) c.959A>G (p.Asp320Gly) | gnomAD v4 |
| 2 | g.48688583T>G | CA346748681 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1214A>C (p.Asp405Ala) c.948-444A>C (n.948-444A>C) c.3441+16903T>G (n.3441+16903T>G) c.948A>C (p.Leu316=) c.1133A>C (p.Asp378Ala) c.276+16903T>G (n.276+16903T>G) c.*220+5641A>C (n.*220+5641A>C) c.257A>C (p.Asp86Ala) c.284A>C (p.Asp95Ala) c.1139A>C (p.Asp380Ala) c.953A>C (p.Asp318Ala) c.872A>C (p.Asp291Ala) c.578A>C (p.Asp193Ala) c.959A>C (p.Asp320Ala) | |
| 2 | g.48688583T= | CA1248601196 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1214A= (p.Asp405=) c.948-444A= (n.948-444A=) c.3441+16903T= (n.3441+16903T=) c.948A= (p.Leu316=) c.1133A= (p.Asp378=) c.276+16903T= (n.276+16903T=) c.*220+5641A= (n.*220+5641A=) c.257A= (p.Asp86=) c.284A= (p.Asp95=) c.1139A= (p.Asp380=) c.953A= (p.Asp318=) c.872A= (p.Asp291=) c.578A= (p.Asp193=) c.959A= (p.Asp320=) | |
| 2 | g.48688584C>A | CA346748682 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1213G>T (p.Asp405Tyr) c.948-445G>T (n.948-445G>T) c.3441+16904C>A (n.3441+16904C>A) c.948-1G>T (n.948-1G>T) c.1132G>T (p.Asp378Tyr) c.276+16904C>A (n.276+16904C>A) c.*220+5640G>T (n.*220+5640G>T) c.256G>T (p.Asp86Tyr) c.283G>T (p.Asp95Tyr) c.1138G>T (p.Asp380Tyr) c.952G>T (p.Asp318Tyr) c.871G>T (p.Asp291Tyr) c.577G>T (p.Asp193Tyr) c.958G>T (p.Asp320Tyr) | |
| 2 | g.48688584C>G | CA346748683 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1213G>C (p.Asp405His) c.948-445G>C (n.948-445G>C) c.3441+16904C>G (n.3441+16904C>G) c.948-1G>C (n.948-1G>C) c.1132G>C (p.Asp378His) c.276+16904C>G (n.276+16904C>G) c.*220+5640G>C (n.*220+5640G>C) c.256G>C (p.Asp86His) c.283G>C (p.Asp95His) c.1138G>C (p.Asp380His) c.952G>C (p.Asp318His) c.871G>C (p.Asp291His) c.577G>C (p.Asp193His) c.958G>C (p.Asp320His) | |
| 2 | g.48688584C>T | CA346748684 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1213G>A (p.Asp405Asn) c.948-445G>A (n.948-445G>A) c.3441+16904C>T (n.3441+16904C>T) c.948-1G>A (n.948-1G>A) c.1132G>A (p.Asp378Asn) c.276+16904C>T (n.276+16904C>T) c.*220+5640G>A (n.*220+5640G>A) c.256G>A (p.Asp86Asn) c.283G>A (p.Asp95Asn) c.1138G>A (p.Asp380Asn) c.952G>A (p.Asp318Asn) c.871G>A (p.Asp291Asn) c.577G>A (p.Asp193Asn) c.958G>A (p.Asp320Asn) | gnomAD v4 COSMIC |
| 2 | g.48688585T>A | CA346748686 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1212A>T (p.Ala404=) c.948-446A>T (n.948-446A>T) c.3441+16905T>A (n.3441+16905T>A) c.948-2A>T (n.948-2A>T) c.1131A>T (p.Ala377=) c.276+16905T>A (n.276+16905T>A) c.*220+5639A>T (n.*220+5639A>T) c.255A>T (p.Ala85=) c.282A>T (p.Ala94=) c.1137A>T (p.Ala379=) c.951A>T (p.Ala317=) c.870A>T (p.Ala290=) c.576A>T (p.Ala192=) c.957A>T (p.Ala319=) | |
| 2 | g.48688585T>C | CA346748690 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1212A>G (p.Ala404=) c.948-446A>G (n.948-446A>G) c.3441+16905T>C (n.3441+16905T>C) c.948-2A>G (n.948-2A>G) c.1131A>G (p.Ala377=) c.276+16905T>C (n.276+16905T>C) c.*220+5639A>G (n.*220+5639A>G) c.255A>G (p.Ala85=) c.282A>G (p.Ala94=) c.1137A>G (p.Ala379=) c.951A>G (p.Ala317=) c.870A>G (p.Ala290=) c.576A>G (p.Ala192=) c.957A>G (p.Ala319=) | |
| 2 | g.48688585T>G | CA346748688 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1212A>C (p.Ala404=) c.948-446A>C (n.948-446A>C) c.3441+16905T>G (n.3441+16905T>G) c.948-2A>C (n.948-2A>C) c.1131A>C (p.Ala377=) c.276+16905T>G (n.276+16905T>G) c.*220+5639A>C (n.*220+5639A>C) c.255A>C (p.Ala85=) c.282A>C (p.Ala94=) c.1137A>C (p.Ala379=) c.951A>C (p.Ala317=) c.870A>C (p.Ala290=) c.576A>C (p.Ala192=) c.957A>C (p.Ala319=) | |
| 2 | g.48688586G>A | CA346748693 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1211C>T (p.Ala404Val) c.948-447C>T (n.948-447C>T) c.3441+16906G>A (n.3441+16906G>A) c.948-3C>T (n.948-3C>T) c.1130C>T (p.Ala377Val) c.276+16906G>A (n.276+16906G>A) c.*220+5638C>T (n.*220+5638C>T) c.254C>T (p.Ala85Val) c.281C>T (p.Ala94Val) c.1136C>T (p.Ala379Val) c.950C>T (p.Ala317Val) c.869C>T (p.Ala290Val) c.575C>T (p.Ala192Val) c.956C>T (p.Ala319Val) | |
| 2 | g.48688586G>C | CA346748696 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1211C>G (p.Ala404Gly) c.948-447C>G (n.948-447C>G) c.3441+16906G>C (n.3441+16906G>C) c.948-3C>G (n.948-3C>G) c.1130C>G (p.Ala377Gly) c.276+16906G>C (n.276+16906G>C) c.*220+5638C>G (n.*220+5638C>G) c.254C>G (p.Ala85Gly) c.281C>G (p.Ala94Gly) c.1136C>G (p.Ala379Gly) c.950C>G (p.Ala317Gly) c.869C>G (p.Ala290Gly) c.575C>G (p.Ala192Gly) c.956C>G (p.Ala319Gly) | |
| 2 | g.48688586G>T | CA346748698 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1211C>A (p.Ala404Glu) c.948-447C>A (n.948-447C>A) c.3441+16906G>T (n.3441+16906G>T) c.948-3C>A (n.948-3C>A) c.1130C>A (p.Ala377Glu) c.276+16906G>T (n.276+16906G>T) c.*220+5638C>A (n.*220+5638C>A) c.254C>A (p.Ala85Glu) c.281C>A (p.Ala94Glu) c.1136C>A (p.Ala379Glu) c.950C>A (p.Ala317Glu) c.869C>A (p.Ala290Glu) c.575C>A (p.Ala192Glu) c.956C>A (p.Ala319Glu) | |
| 2 | g.48688587C>A | CA346748700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1210G>T (p.Ala404Ser) c.948-448G>T (n.948-448G>T) c.3441+16907C>A (n.3441+16907C>A) c.948-4G>T (n.948-4G>T) c.1129G>T (p.Ala377Ser) c.276+16907C>A (n.276+16907C>A) c.*220+5637G>T (n.*220+5637G>T) c.253G>T (p.Ala85Ser) c.280G>T (p.Ala94Ser) c.1135G>T (p.Ala379Ser) c.949G>T (p.Ala317Ser) c.868G>T (p.Ala290Ser) c.574G>T (p.Ala192Ser) c.955G>T (p.Ala319Ser) | |
| 2 | g.48688587C>G | CA346748703 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1210G>C (p.Ala404Pro) c.948-448G>C (n.948-448G>C) c.3441+16907C>G (n.3441+16907C>G) c.948-4G>C (n.948-4G>C) c.1129G>C (p.Ala377Pro) c.276+16907C>G (n.276+16907C>G) c.*220+5637G>C (n.*220+5637G>C) c.253G>C (p.Ala85Pro) c.280G>C (p.Ala94Pro) c.1135G>C (p.Ala379Pro) c.949G>C (p.Ala317Pro) c.868G>C (p.Ala290Pro) c.574G>C (p.Ala192Pro) c.955G>C (p.Ala319Pro) | |
| 2 | g.48688587C>T | CA346748706 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1210G>A (p.Ala404Thr) c.948-448G>A (n.948-448G>A) c.3441+16907C>T (n.3441+16907C>T) c.948-4G>A (n.948-4G>A) c.1129G>A (p.Ala377Thr) c.276+16907C>T (n.276+16907C>T) c.*220+5637G>A (n.*220+5637G>A) c.253G>A (p.Ala85Thr) c.280G>A (p.Ala94Thr) c.1135G>A (p.Ala379Thr) c.949G>A (p.Ala317Thr) c.868G>A (p.Ala290Thr) c.574G>A (p.Ala192Thr) c.955G>A (p.Ala319Thr) | gnomAD v4 |
| 2 | g.48688588A>C | CA346748709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1209T>G (p.Phe403Leu) c.948-449T>G (n.948-449T>G) c.3441+16908A>C (n.3441+16908A>C) c.948-5T>G (n.948-5T>G) c.1128T>G (p.Phe376Leu) c.276+16908A>C (n.276+16908A>C) c.*220+5636T>G (n.*220+5636T>G) c.252T>G (p.Phe84Leu) c.279T>G (p.Phe93Leu) c.1134T>G (p.Phe378Leu) c.948T>G (p.Phe316Leu) c.867T>G (p.Phe289Leu) c.573T>G (p.Phe191Leu) c.954T>G (p.Phe318Leu) | |
| 2 | g.48688588A>G | CA426124559 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1209T>C (p.Phe403=) c.948-449T>C (n.948-449T>C) c.3441+16908A>G (n.3441+16908A>G) c.948-5T>C (n.948-5T>C) c.1128T>C (p.Phe376=) c.276+16908A>G (n.276+16908A>G) c.*220+5636T>C (n.*220+5636T>C) c.252T>C (p.Phe84=) c.279T>C (p.Phe93=) c.1134T>C (p.Phe378=) c.948T>C (p.Phe316=) c.867T>C (p.Phe289=) c.573T>C (p.Phe191=) c.954T>C (p.Phe318=) | |
| 2 | g.48688588A>T | CA346748710 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1209T>A (p.Phe403Leu) c.948-449T>A (n.948-449T>A) c.3441+16908A>T (n.3441+16908A>T) c.948-5T>A (n.948-5T>A) c.1128T>A (p.Phe376Leu) c.276+16908A>T (n.276+16908A>T) c.*220+5636T>A (n.*220+5636T>A) c.252T>A (p.Phe84Leu) c.279T>A (p.Phe93Leu) c.1134T>A (p.Phe378Leu) c.948T>A (p.Phe316Leu) c.867T>A (p.Phe289Leu) c.573T>A (p.Phe191Leu) c.954T>A (p.Phe318Leu) | |
| 2 | g.48688589A>C | CA346748713 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1208T>G (p.Phe403Cys) c.948-450T>G (n.948-450T>G) c.3441+16909A>C (n.3441+16909A>C) c.948-6T>G (n.948-6T>G) c.1127T>G (p.Phe376Cys) c.276+16909A>C (n.276+16909A>C) c.*220+5635T>G (n.*220+5635T>G) c.251T>G (p.Phe84Cys) c.278T>G (p.Phe93Cys) c.1133T>G (p.Phe378Cys) c.947T>G (p.Phe316Cys) c.866T>G (p.Phe289Cys) c.572T>G (p.Phe191Cys) c.953T>G (p.Phe318Cys) | |
| 2 | g.48688589A>G | CA346748715 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1208T>C (p.Phe403Ser) c.948-450T>C (n.948-450T>C) c.3441+16909A>G (n.3441+16909A>G) c.948-6T>C (n.948-6T>C) c.1127T>C (p.Phe376Ser) c.276+16909A>G (n.276+16909A>G) c.*220+5635T>C (n.*220+5635T>C) c.251T>C (p.Phe84Ser) c.278T>C (p.Phe93Ser) c.1133T>C (p.Phe378Ser) c.947T>C (p.Phe316Ser) c.866T>C (p.Phe289Ser) c.572T>C (p.Phe191Ser) c.953T>C (p.Phe318Ser) | |
| 2 | g.48688589A>T | CA346748718 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1208T>A (p.Phe403Tyr) c.948-450T>A (n.948-450T>A) c.3441+16909A>T (n.3441+16909A>T) c.948-6T>A (n.948-6T>A) c.1127T>A (p.Phe376Tyr) c.276+16909A>T (n.276+16909A>T) c.*220+5635T>A (n.*220+5635T>A) c.251T>A (p.Phe84Tyr) c.278T>A (p.Phe93Tyr) c.1133T>A (p.Phe378Tyr) c.947T>A (p.Phe316Tyr) c.866T>A (p.Phe289Tyr) c.572T>A (p.Phe191Tyr) c.953T>A (p.Phe318Tyr) | |
| 2 | g.48688590A= | CA1248601197 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1207T= (p.Phe403=) c.948-451T= (n.948-451T=) c.3441+16910A= (n.3441+16910A=) c.948-7T= (n.948-7T=) c.1126T= (p.Phe376=) c.276+16910A= (n.276+16910A=) c.*220+5634T= (n.*220+5634T=) c.250T= (p.Phe84=) c.277T= (p.Phe93=) c.1132T= (p.Phe378=) c.946T= (p.Phe316=) c.865T= (p.Phe289=) c.571T= (p.Phe191=) c.952T= (p.Phe318=) | |
| 2 | g.48688590A>C | CA346748724 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1207T>G (p.Phe403Val) c.948-451T>G (n.948-451T>G) c.3441+16910A>C (n.3441+16910A>C) c.948-7T>G (n.948-7T>G) c.1126T>G (p.Phe376Val) c.276+16910A>C (n.276+16910A>C) c.*220+5634T>G (n.*220+5634T>G) c.250T>G (p.Phe84Val) c.277T>G (p.Phe93Val) c.1132T>G (p.Phe378Val) c.946T>G (p.Phe316Val) c.865T>G (p.Phe289Val) c.571T>G (p.Phe191Val) c.952T>G (p.Phe318Val) | |
| 2 | g.48688590A>G | CA346748723 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1207T>C (p.Phe403Leu) c.948-451T>C (n.948-451T>C) c.3441+16910A>G (n.3441+16910A>G) c.948-7T>C (n.948-7T>C) c.1126T>C (p.Phe376Leu) c.276+16910A>G (n.276+16910A>G) c.*220+5634T>C (n.*220+5634T>C) c.250T>C (p.Phe84Leu) c.277T>C (p.Phe93Leu) c.1132T>C (p.Phe378Leu) c.946T>C (p.Phe316Leu) c.865T>C (p.Phe289Leu) c.571T>C (p.Phe191Leu) c.952T>C (p.Phe318Leu) | |
| 2 | g.48688590A>T | CA346748720 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1207T>A (p.Phe403Ile) c.948-451T>A (n.948-451T>A) c.3441+16910A>T (n.3441+16910A>T) c.948-7T>A (n.948-7T>A) c.1126T>A (p.Phe376Ile) c.276+16910A>T (n.276+16910A>T) c.*220+5634T>A (n.*220+5634T>A) c.250T>A (p.Phe84Ile) c.277T>A (p.Phe93Ile) c.1132T>A (p.Phe378Ile) c.946T>A (p.Phe316Ile) c.865T>A (p.Phe289Ile) c.571T>A (p.Phe191Ile) c.952T>A (p.Phe318Ile) | dbSNP |
| 2 | g.48688591G>A | CA426124560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1206C>T (p.Ser402=) c.948-452C>T (n.948-452C>T) c.3441+16911G>A (n.3441+16911G>A) c.948-8C>T (n.948-8C>T) c.1125C>T (p.Ser375=) c.276+16911G>A (n.276+16911G>A) c.*220+5633C>T (n.*220+5633C>T) c.249C>T (p.Ser83=) c.276C>T (p.Ser92=) c.1131C>T (p.Ser377=) c.945C>T (p.Ser315=) c.864C>T (p.Ser288=) c.570C>T (p.Ser190=) c.951C>T (p.Ser317=) | |
| 2 | g.48688591G>C | CA426124561 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1206C>G (p.Ser402=) c.948-452C>G (n.948-452C>G) c.3441+16911G>C (n.3441+16911G>C) c.948-8C>G (n.948-8C>G) c.1125C>G (p.Ser375=) c.276+16911G>C (n.276+16911G>C) c.*220+5633C>G (n.*220+5633C>G) c.249C>G (p.Ser83=) c.276C>G (p.Ser92=) c.1131C>G (p.Ser377=) c.945C>G (p.Ser315=) c.864C>G (p.Ser288=) c.570C>G (p.Ser190=) c.951C>G (p.Ser317=) | |
| 2 | g.48688591G>T | CA426124562 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1206C>A (p.Ser402=) c.948-452C>A (n.948-452C>A) c.3441+16911G>T (n.3441+16911G>T) c.948-8C>A (n.948-8C>A) c.1125C>A (p.Ser375=) c.276+16911G>T (n.276+16911G>T) c.*220+5633C>A (n.*220+5633C>A) c.249C>A (p.Ser83=) c.276C>A (p.Ser92=) c.1131C>A (p.Ser377=) c.945C>A (p.Ser315=) c.864C>A (p.Ser288=) c.570C>A (p.Ser190=) c.951C>A (p.Ser317=) | |
| 2 | g.48688592G>A | CA346748725 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1205C>T (p.Ser402Phe) c.948-453C>T (n.948-453C>T) c.3441+16912G>A (n.3441+16912G>A) c.948-9C>T (n.948-9C>T) c.1124C>T (p.Ser375Phe) c.276+16912G>A (n.276+16912G>A) c.*220+5632C>T (n.*220+5632C>T) c.248C>T (p.Ser83Phe) c.275C>T (p.Ser92Phe) c.1130C>T (p.Ser377Phe) c.944C>T (p.Ser315Phe) c.863C>T (p.Ser288Phe) c.569C>T (p.Ser190Phe) c.950C>T (p.Ser317Phe) | COSMIC |
| 2 | g.48688592G>C | CA346748726 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1205C>G (p.Ser402Cys) c.948-453C>G (n.948-453C>G) c.3441+16912G>C (n.3441+16912G>C) c.948-9C>G (n.948-9C>G) c.1124C>G (p.Ser375Cys) c.276+16912G>C (n.276+16912G>C) c.*220+5632C>G (n.*220+5632C>G) c.248C>G (p.Ser83Cys) c.275C>G (p.Ser92Cys) c.1130C>G (p.Ser377Cys) c.944C>G (p.Ser315Cys) c.863C>G (p.Ser288Cys) c.569C>G (p.Ser190Cys) c.950C>G (p.Ser317Cys) | |
| 2 | g.48688592G>T | CA346748727 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1205C>A (p.Ser402Tyr) c.948-453C>A (n.948-453C>A) c.3441+16912G>T (n.3441+16912G>T) c.948-9C>A (n.948-9C>A) c.1124C>A (p.Ser375Tyr) c.276+16912G>T (n.276+16912G>T) c.*220+5632C>A (n.*220+5632C>A) c.248C>A (p.Ser83Tyr) c.275C>A (p.Ser92Tyr) c.1130C>A (p.Ser377Tyr) c.944C>A (p.Ser315Tyr) c.863C>A (p.Ser288Tyr) c.569C>A (p.Ser190Tyr) c.950C>A (p.Ser317Tyr) | gnomAD v4 |
| 2 | g.48688593A>C | CA346748728 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1204T>G (p.Ser402Ala) c.948-454T>G (n.948-454T>G) c.3441+16913A>C (n.3441+16913A>C) c.948-10T>G (n.948-10T>G) c.1123T>G (p.Ser375Ala) c.276+16913A>C (n.276+16913A>C) c.*220+5631T>G (n.*220+5631T>G) c.247T>G (p.Ser83Ala) c.274T>G (p.Ser92Ala) c.1129T>G (p.Ser377Ala) c.943T>G (p.Ser315Ala) c.862T>G (p.Ser288Ala) c.568T>G (p.Ser190Ala) c.949T>G (p.Ser317Ala) | |
| 2 | g.48688593A>G | CA346748729 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1204T>C (p.Ser402Pro) c.948-454T>C (n.948-454T>C) c.3441+16913A>G (n.3441+16913A>G) c.948-10T>C (n.948-10T>C) c.1123T>C (p.Ser375Pro) c.276+16913A>G (n.276+16913A>G) c.*220+5631T>C (n.*220+5631T>C) c.247T>C (p.Ser83Pro) c.274T>C (p.Ser92Pro) c.1129T>C (p.Ser377Pro) c.943T>C (p.Ser315Pro) c.862T>C (p.Ser288Pro) c.568T>C (p.Ser190Pro) c.949T>C (p.Ser317Pro) | |
| 2 | g.48688593A>T | CA346748733 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1204T>A (p.Ser402Thr) c.948-454T>A (n.948-454T>A) c.3441+16913A>T (n.3441+16913A>T) c.948-10T>A (n.948-10T>A) c.1123T>A (p.Ser375Thr) c.276+16913A>T (n.276+16913A>T) c.*220+5631T>A (n.*220+5631T>A) c.247T>A (p.Ser83Thr) c.274T>A (p.Ser92Thr) c.1129T>A (p.Ser377Thr) c.943T>A (p.Ser315Thr) c.862T>A (p.Ser288Thr) c.568T>A (p.Ser190Thr) c.949T>A (p.Ser317Thr) |