Evidence Repository - SERVICE OUTAGE2026-04-17T09:00:00-0500 — 2026-04-22T17:00:00-0500
The Evidence Repository UI outage is being looked into.
It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.
The Evidence Repository UI outage is being looked into.
It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843549_102843732dup | CA3265460482 | PAH | c.1113_1199+97dup c.1098_1184+97dup n.872_958+97dup n.775_861+97dup c.217_303+97dup n.628_714+97dup c.1056_1142+97dup | |
| 12 | g.102843672_102843674del | CA912973342 | PAH | c.1171_1173del (p.Ser391del) c.1156_1158del (p.Ser386del) n.930_932del n.833_835del c.275_277del n.686_688del c.1114_1116del (p.Ser372del) | |
| 12 | g.102843672_102843674delinsACT | CA2059446414 | PAH | c.1171_1173delinsAGT (p.Ser391=) c.1156_1158delinsAGT (p.Ser386=) n.930_932delinsAGT n.833_835delinsAGT c.275_277delinsAGT n.686_688delinsAGT c.1114_1116delinsAGT (p.Ser372=) | |
| 12 | g.102843677_102843678del | CA16020956 | PAH | c.1171_1172del (p.Ser391PhefsTer2) c.1156_1157del (p.Ser386PhefsTer2) n.930_931del n.833_834del c.275_276del n.686_687del c.1114_1115del (p.Ser372PhefsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843674T>A | CA386493177 | PAH | c.1171A>T (p.Ser391Cys) c.1156A>T (p.Ser386Cys) n.930A>T n.833A>T c.275A>T n.686A>T c.1114A>T (p.Ser372Cys) | |
| 12 | g.102843674T>C | CA267630 | PAH | c.1171A>G (p.Ser391Gly) c.1156A>G (p.Ser386Gly) n.930A>G n.833A>G c.275A>G n.686A>G c.1114A>G (p.Ser372Gly) | ClinVar dbSNP |
| 12 | g.102843674T>G | CA386493178 | PAH | c.1171A>C (p.Ser391Arg) c.1156A>C (p.Ser386Arg) n.930A>C n.833A>C c.275A>C n.686A>C c.1114A>C (p.Ser372Arg) | |
| 12 | g.102843674T= | CA2059446429 | PAH | c.1171A= (p.Ser391=) c.1156A= (p.Ser386=) n.930A= n.833A= c.275A= n.686A= c.1114A= (p.Ser372=) | dbSNP |
| 12 | g.102843674_102843676delinsCCC | CA2695217223 | PAH | c.1169_1171delinsGGG (p.Glu390_Ser391delinsGlyGly) c.1154_1156delinsGGG (p.Glu385_Ser386delinsGlyGly) n.928_930delinsGGG n.831_833delinsGGG c.273_275delinsGGG n.684_686delinsGGG c.1112_1114delinsGGG (p.Glu371_Ser372delinsGlyGly) | |
| 12 | g.102843675C>A | CA386493180 | PAH | c.1170G>T (p.Glu390Asp) c.1155G>T (p.Glu385Asp) n.929G>T n.832G>T c.274G>T n.685G>T c.1113G>T (p.Glu371Asp) | |
| 12 | g.102843675C= | CA3194748075 | PAH | c.1170G= (p.Glu390=) c.1155G= (p.Glu385=) n.929G= n.832G= c.274G= n.685G= c.1113G= (p.Glu371=) | dbSNP |
| 12 | g.102843675C>G | CA386493179 | PAH | c.1170G>C (p.Glu390Asp) c.1155G>C (p.Glu385Asp) n.929G>C n.832G>C c.274G>C n.685G>C c.1113G>C (p.Glu371Asp) | |
| 12 | g.102843675C>T | CA481375622 | PAH | c.1170G>A (p.Glu390=) c.1155G>A (p.Glu385=) n.929G>A n.832G>A c.274G>A n.685G>A c.1113G>A (p.Glu371=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843676T>A | CA386493181 | PAH | c.1169A>T (p.Glu390Val) c.1154A>T (p.Glu385Val) n.928A>T n.831A>T c.273A>T n.684A>T c.1112A>T (p.Glu371Val) | |
| 12 | g.102843676T>C | CA114367 | PAH | c.1169A>G (p.Glu390Gly) c.1154A>G (p.Glu385Gly) n.928A>G n.831A>G c.273A>G n.684A>G c.1112A>G (p.Glu371Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843676T>G | CA386493182 | PAH | c.1169A>C (p.Glu390Ala) c.1154A>C (p.Glu385Ala) n.928A>C n.831A>C c.273A>C n.684A>C c.1112A>C (p.Glu371Ala) | |
| 12 | g.102843676T= | CA2059446435 | PAH | c.1169A= (p.Glu390=) c.1154A= (p.Glu385=) n.928A= n.831A= c.273A= n.684A= c.1112A= (p.Glu371=) | dbSNP |
| 12 | g.102843677C>A | CA386493183 | PAH | c.1168G>T (p.Glu390Ter) c.1153G>T (p.Glu385Ter) n.927G>T n.830G>T c.272G>T n.683G>T c.1111G>T (p.Glu371Ter) | gnomAD v4 |
| 12 | g.102843677C= | CA3197744149 | PAH | c.1168G= (p.Glu390=) c.1153G= (p.Glu385=) n.927G= n.830G= c.272G= n.683G= c.1111G= (p.Glu371=) | dbSNP |
| 12 | g.102843677C>G | CA386493184 | PAH | c.1168G>C (p.Glu390Gln) c.1153G>C (p.Glu385Gln) n.927G>C n.830G>C c.272G>C n.683G>C c.1111G>C (p.Glu371Gln) | dbSNP gnomAD v4 |
| 12 | g.102843677C>T | CA386493185 | PAH | c.1168G>A (p.Glu390Lys) c.1153G>A (p.Glu385Lys) n.927G>A n.830G>A c.272G>A n.683G>A c.1111G>A (p.Glu371Lys) | |
| 12 | g.102843677dup | CA2838199305 | PAH | c.1168dup (p.Glu390GlyfsTer4) c.1153dup (p.Glu385GlyfsTer4) n.927dup n.830dup c.272dup n.683dup c.1111dup (p.Glu371GlyfsTer4) | |
| 12 | g.102843678T>A | CA481375623 | PAH | c.1167A>T (p.Ala389=) c.1152A>T (p.Ala384=) n.926A>T n.829A>T c.271A>T n.682A>T c.1110A>T (p.Ala370=) | |
| 12 | g.102843678T>C | CA481375624 | PAH | c.1167A>G (p.Ala389=) c.1152A>G (p.Ala384=) n.926A>G n.829A>G c.271A>G n.682A>G c.1110A>G (p.Ala370=) | ClinVar dbSNP |
| 12 | g.102843678T>G | CA481375625 | PAH | c.1167A>C (p.Ala389=) c.1152A>C (p.Ala384=) n.926A>C n.829A>C c.271A>C n.682A>C c.1110A>C (p.Ala370=) | |
| 12 | g.102843678T= | CA3194748088 | PAH | c.1167A= (p.Ala389=) c.1152A= (p.Ala384=) n.926A= n.829A= c.271A= n.682A= c.1110A= (p.Ala370=) | dbSNP |
| 12 | g.102843678_102843679delinsTG | CA2059446440 | PAH | c.1166_1167delinsCA (p.Ala389=) c.1151_1152delinsCA (p.Ala384=) n.925_926delinsCA n.828_829delinsCA c.270_271delinsCA n.681_682delinsCA c.1109_1110delinsCA (p.Ala370=) | |
| 12 | g.102843679_102843688del | CA3054215012 | PAH | c.1158_1167del (p.Tyr386Ter) c.1143_1152del (p.Tyr381Ter) n.917_926del n.820_829del c.262_271del n.673_682del c.1101_1110del (p.Tyr367Ter) | ClinVar |
| 12 | g.102843679del | CA229368 | PAH | c.1166del (p.Ala389GlufsTer11) c.1151del (p.Ala384GlufsTer11) n.925del n.828del c.270del n.681del c.1109del (p.Ala370GlufsTer11) | ClinVar dbSNP |
| 12 | g.102843679G>A | CA386493186 | PAH | c.1166C>T (p.Ala389Val) c.1151C>T (p.Ala384Val) n.925C>T n.828C>T c.270C>T n.681C>T c.1109C>T (p.Ala370Val) | |
| 12 | g.102843679G>C | CA16020955 | PAH | c.1166C>G (p.Ala389Gly) c.1151C>G (p.Ala384Gly) n.925C>G n.828C>G c.270C>G n.681C>G c.1109C>G (p.Ala370Gly) | ClinVar dbSNP |
| 12 | g.102843679G= | CA2059446447 | PAH | c.1166C= (p.Ala389=) c.1151C= (p.Ala384=) n.925C= n.828C= c.270C= n.681C= c.1109C= (p.Ala370=) | dbSNP dbSNP |
| 12 | g.102843679G>T | CA16020954 | PAH | c.1166C>A (p.Ala389Glu) c.1151C>A (p.Ala384Glu) n.925C>A n.828C>A c.270C>A n.681C>A c.1109C>A (p.Ala370Glu) | ClinVar dbSNP |
| 12 | g.102843680C>A | CA386493187 | PAH | c.1165G>T (p.Ala389Ser) c.1150G>T (p.Ala384Ser) n.924G>T n.827G>T c.269G>T n.680G>T c.1108G>T (p.Ala370Ser) | |
| 12 | g.102843680C= | CA3197744152 | PAH | c.1165G= (p.Ala389=) c.1150G= (p.Ala384=) n.924G= n.827G= c.269G= n.680G= c.1108G= (p.Ala370=) | dbSNP |
| 12 | g.102843680C>G | CA386493188 | PAH | c.1165G>C (p.Ala389Pro) c.1150G>C (p.Ala384Pro) n.924G>C n.827G>C c.269G>C n.680G>C c.1108G>C (p.Ala370Pro) | |
| 12 | g.102843680C>T | CA386493189 | PAH | c.1165G>A (p.Ala389Thr) c.1150G>A (p.Ala384Thr) n.924G>A n.827G>A c.269G>A n.680G>A c.1108G>A (p.Ala370Thr) | dbSNP gnomAD v4 |
| 12 | g.102843681dup | CA2843248088 | PAH | c.1165dup (p.Ala389GlyfsTer5) c.1150dup (p.Ala384GlyfsTer5) n.924dup n.827dup c.269dup n.680dup c.1108dup (p.Ala370GlyfsTer5) | |
| 12 | g.102843680_102843682delinsCCA | CA2059446455 | PAH | c.1163_1165delinsTGG (p.Val388=) c.1148_1150delinsTGG (p.Val383=) n.922_924delinsTGG n.825_827delinsTGG c.267_269delinsTGG n.678_680delinsTGG c.1106_1108delinsTGG (p.Val369=) | |
| 12 | g.102843681C>A | CA481375627 | PAH | c.1164G>T (p.Val388=) c.1149G>T (p.Val383=) n.923G>T n.826G>T c.268G>T n.679G>T c.1107G>T (p.Val369=) | |
| 12 | g.102843681C= | CA3197744156 | PAH | c.1164G= (p.Val388=) c.1149G= (p.Val383=) n.923G= n.826G= c.268G= n.679G= c.1107G= (p.Val369=) | dbSNP |
| 12 | g.102843681C>G | CA481375628 | PAH | c.1164G>C (p.Val388=) c.1149G>C (p.Val383=) n.923G>C n.826G>C c.268G>C n.679G>C c.1107G>C (p.Val369=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843681C>T | CA481375629 | PAH | c.1164G>A (p.Val388=) c.1149G>A (p.Val383=) n.923G>A n.826G>A c.268G>A n.679G>A c.1107G>A (p.Val369=) | COSMIC |
| 12 | g.102843682_102843683del | CA229367 | PAH | c.1163_1164del (p.Val388GlyfsTer5) c.1148_1149del (p.Val383GlyfsTer5) n.922_923del n.825_826del c.267_268del n.678_679del c.1106_1107del (p.Val369GlyfsTer5) | ClinVar dbSNP |
| 12 | g.102843682A= | CA2059446462 | PAH | c.1163T= (p.Val388=) c.1148T= (p.Val383=) n.922T= n.825T= c.267T= n.678T= c.1106T= (p.Val369=) | dbSNP |
| 12 | g.102843682A>C | CA386493190 | PAH | c.1163T>G (p.Val388Gly) c.1148T>G (p.Val383Gly) n.922T>G n.825T>G c.267T>G n.678T>G c.1106T>G (p.Val369Gly) | |
| 12 | g.102843682A>G | CA267628 | PAH | c.1163T>C (p.Val388Ala) c.1148T>C (p.Val383Ala) n.922T>C n.825T>C c.267T>C n.678T>C c.1106T>C (p.Val369Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843682A>T | CA386493191 | PAH | c.1163T>A (p.Val388Glu) c.1148T>A (p.Val383Glu) n.922T>A n.825T>A c.267T>A n.678T>A c.1106T>A (p.Val369Glu) | dbSNP |
| 12 | g.102843683C>A | CA386493192 | PAH | c.1162G>T (p.Val388Leu) c.1147G>T (p.Val383Leu) n.921G>T n.824G>T c.266G>T n.677G>T c.1105G>T (p.Val369Leu) | |
| 12 | g.102843683C= | CA2059446474 | PAH | c.1162G= (p.Val388=) c.1147G= (p.Val383=) n.921G= n.824G= c.266G= n.677G= c.1105G= (p.Val369=) | dbSNP |