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 |
|---|---|---|---|---|---|
| 16 | g.1526668_1526673dup | CA2631011066 | IFT140 | c.2528_2533dup (p.Glu844_Leu845insProGlu) c.110_115dup (p.Glu38_Leu39insProGlu) c.*1015+65_*1015+70dup (n.*1015+65_*1015+70dup) n.1216_1221dup n.292+65_292+70dup c.161_166dup (p.Glu55_Leu56insProGlu) c.2282_2287dup (p.Glu762_Leu763insProGlu) c.1553_1558dup (p.Glu519_Leu520insProGlu) c.713_718dup (p.Glu239_Leu240insProGlu) | gnomAD v4 |
| 16 | g.1526673_1526684dup | CA620701197 | IFT140 | c.2515_2526dup (p.Glu842_Pro843insAlaGluGlnGlu) c.97_108dup (p.Glu36_Pro37insAlaGluGlnGlu) c.*1015+52_*1015+63dup (n.*1015+52_*1015+63dup) n.1203_1214dup n.292+52_292+63dup c.148_159dup (p.Glu53_Pro54insAlaGluGlnGlu) c.2269_2280dup (p.Glu760_Pro761insAlaGluGlnGlu) c.1540_1551dup (p.Glu517_Pro518insAlaGluGlnGlu) c.700_711dup (p.Glu237_Pro238insAlaGluGlnGlu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1526673C>A | CA394228151 | IFT140 | c.2523G>T (p.Gln841His) c.105G>T (p.Gln35His) c.*1015+60G>T (n.*1015+60G>T) n.1211G>T n.292+60G>T c.156G>T (p.Gln52His) c.2277G>T (p.Gln759His) c.1548G>T (p.Gln516His) c.708G>T (p.Gln236His) | |
| 16 | g.1526673C= | CA2201699550 | IFT140 | c.2523G= (p.Gln841=) c.105G= (p.Gln35=) c.*1015+60G= (n.*1015+60G=) n.1211G= n.292+60G= c.156G= (p.Gln52=) c.2277G= (p.Gln759=) c.1548G= (p.Gln516=) c.708G= (p.Gln236=) | |
| 16 | g.1526673C>G | CA394228153 | IFT140 | c.2523G>C (p.Gln841His) c.105G>C (p.Gln35His) c.*1015+60G>C (n.*1015+60G>C) n.1211G>C n.292+60G>C c.156G>C (p.Gln52His) c.2277G>C (p.Gln759His) c.1548G>C (p.Gln516His) c.708G>C (p.Gln236His) | |
| 16 | g.1526673C>T | CA492932532 | IFT140 | c.2523G>A (p.Gln841=) c.105G>A (p.Gln35=) c.*1015+60G>A (n.*1015+60G>A) n.1211G>A n.292+60G>A c.156G>A (p.Gln52=) c.2277G>A (p.Gln759=) c.1548G>A (p.Gln516=) c.708G>A (p.Gln236=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1526674T>A | CA394228154 | IFT140 | c.2522A>T (p.Gln841Leu) c.104A>T (p.Gln35Leu) c.*1015+59A>T (n.*1015+59A>T) n.1210A>T n.292+59A>T c.155A>T (p.Gln52Leu) c.2276A>T (p.Gln759Leu) c.1547A>T (p.Gln516Leu) c.707A>T (p.Gln236Leu) | |
| 16 | g.1526674T>C | CA394228156 | IFT140 | c.2522A>G (p.Gln841Arg) c.104A>G (p.Gln35Arg) c.*1015+59A>G (n.*1015+59A>G) n.1210A>G n.292+59A>G c.155A>G (p.Gln52Arg) c.2276A>G (p.Gln759Arg) c.1547A>G (p.Gln516Arg) c.707A>G (p.Gln236Arg) | |
| 16 | g.1526674T>G | CA394228158 | IFT140 | c.2522A>C (p.Gln841Pro) c.104A>C (p.Gln35Pro) c.*1015+59A>C (n.*1015+59A>C) n.1210A>C n.292+59A>C c.155A>C (p.Gln52Pro) c.2276A>C (p.Gln759Pro) c.1547A>C (p.Gln516Pro) c.707A>C (p.Gln236Pro) | |
| 16 | g.1526675G>A | CA394228160 | IFT140 | c.2521C>T (p.Gln841Ter) c.103C>T (p.Gln35Ter) c.*1015+58C>T (n.*1015+58C>T) n.1209C>T n.292+58C>T c.154C>T (p.Gln52Ter) c.2275C>T (p.Gln759Ter) c.1546C>T (p.Gln516Ter) c.706C>T (p.Gln236Ter) | gnomAD v4 |
| 16 | g.1526675G>C | CA394228161 | IFT140 | c.2521C>G (p.Gln841Glu) c.103C>G (p.Gln35Glu) c.*1015+58C>G (n.*1015+58C>G) n.1209C>G n.292+58C>G c.154C>G (p.Gln52Glu) c.2275C>G (p.Gln759Glu) c.1546C>G (p.Gln516Glu) c.706C>G (p.Gln236Glu) | |
| 16 | g.1526675G>T | CA394228163 | IFT140 | c.2521C>A (p.Gln841Lys) c.103C>A (p.Gln35Lys) c.*1015+58C>A (n.*1015+58C>A) n.1209C>A n.292+58C>A c.154C>A (p.Gln52Lys) c.2275C>A (p.Gln759Lys) c.1546C>A (p.Gln516Lys) c.706C>A (p.Gln236Lys) | gnomAD v4 |
| 16 | g.1526677_1526688dup | CA2575869627 | IFT140 | c.2510_2521dup (p.Glu840_Gln841insArgGluAlaGlu) c.92_103dup (p.Glu34_Gln35insArgGluAlaGlu) c.*1015+47_*1015+58dup (n.*1015+47_*1015+58dup) n.1198_1209dup n.292+47_292+58dup c.143_154dup (p.Glu51_Gln52insArgGluAlaGlu) c.2264_2275dup (p.Glu758_Gln759insArgGluAlaGlu) c.1535_1546dup (p.Glu515_Gln516insArgGluAlaGlu) c.695_706dup (p.Glu235_Gln236insArgGluAlaGlu) | |
| 16 | g.1526676C>A | CA394228165 | IFT140 | c.2520G>T (p.Glu840Asp) c.102G>T (p.Glu34Asp) c.*1015+57G>T (n.*1015+57G>T) n.1208G>T n.292+57G>T c.153G>T (p.Glu51Asp) c.2274G>T (p.Glu758Asp) c.1545G>T (p.Glu515Asp) c.705G>T (p.Glu235Asp) | |
| 16 | g.1526676C>G | CA394228166 | IFT140 | c.2520G>C (p.Glu840Asp) c.102G>C (p.Glu34Asp) c.*1015+57G>C (n.*1015+57G>C) n.1208G>C n.292+57G>C c.153G>C (p.Glu51Asp) c.2274G>C (p.Glu758Asp) c.1545G>C (p.Glu515Asp) c.705G>C (p.Glu235Asp) | |
| 16 | g.1526676C>T | CA492932533 | IFT140 | c.2520G>A (p.Glu840=) c.102G>A (p.Glu34=) c.*1015+57G>A (n.*1015+57G>A) n.1208G>A n.292+57G>A c.153G>A (p.Glu51=) c.2274G>A (p.Glu758=) c.1545G>A (p.Glu515=) c.705G>A (p.Glu235=) | gnomAD v4 |
| 16 | g.1526677T>A | CA394228169 | IFT140 | c.2519A>T (p.Glu840Val) c.101A>T (p.Glu34Val) c.*1015+56A>T (n.*1015+56A>T) n.1207A>T n.292+56A>T c.152A>T (p.Glu51Val) c.2273A>T (p.Glu758Val) c.1544A>T (p.Glu515Val) c.704A>T (p.Glu235Val) | |
| 16 | g.1526677T>C | CA7813598 | IFT140 | c.2519A>G (p.Glu840Gly) c.101A>G (p.Glu34Gly) c.*1015+56A>G (n.*1015+56A>G) n.1207A>G n.292+56A>G c.152A>G (p.Glu51Gly) c.2273A>G (p.Glu758Gly) c.1544A>G (p.Glu515Gly) c.704A>G (p.Glu235Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1526677T>G | CA394228170 | IFT140 | c.2519A>C (p.Glu840Ala) c.101A>C (p.Glu34Ala) c.*1015+56A>C (n.*1015+56A>C) n.1207A>C n.292+56A>C c.152A>C (p.Glu51Ala) c.2273A>C (p.Glu758Ala) c.1544A>C (p.Glu515Ala) c.704A>C (p.Glu235Ala) | |
| 16 | g.1526677T= | CA2201699551 | IFT140 | c.2519A= (p.Glu840=) c.101A= (p.Glu34=) c.*1015+56A= (n.*1015+56A=) n.1207A= n.292+56A= c.152A= (p.Glu51=) c.2273A= (p.Glu758=) c.1544A= (p.Glu515=) c.704A= (p.Glu235=) | |
| 16 | g.1526678C>A | CA394228173 | IFT140 | c.2518G>T (p.Glu840Ter) c.100G>T (p.Glu34Ter) c.*1015+55G>T (n.*1015+55G>T) n.1206G>T n.292+55G>T c.151G>T (p.Glu51Ter) c.2272G>T (p.Glu758Ter) c.1543G>T (p.Glu515Ter) c.703G>T (p.Glu235Ter) | |
| 16 | g.1526678C>G | CA394228175 | IFT140 | c.2518G>C (p.Glu840Gln) c.100G>C (p.Glu34Gln) c.*1015+55G>C (n.*1015+55G>C) n.1206G>C n.292+55G>C c.151G>C (p.Glu51Gln) c.2272G>C (p.Glu758Gln) c.1543G>C (p.Glu515Gln) c.703G>C (p.Glu235Gln) | gnomAD v4 |
| 16 | g.1526678C>T | CA394228176 | IFT140 | c.2518G>A (p.Glu840Lys) c.100G>A (p.Glu34Lys) c.*1015+55G>A (n.*1015+55G>A) n.1206G>A n.292+55G>A c.151G>A (p.Glu51Lys) c.2272G>A (p.Glu758Lys) c.1543G>A (p.Glu515Lys) c.703G>A (p.Glu235Lys) | |
| 16 | g.1526679C>A | CA492932534 | IFT140 | c.2517G>T (p.Ala839=) c.99G>T (p.Ala33=) c.*1015+54G>T (n.*1015+54G>T) n.1205G>T n.292+54G>T c.150G>T (p.Ala50=) c.2271G>T (p.Ala757=) c.1542G>T (p.Ala514=) c.702G>T (p.Ala234=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1526679C= | CA2201699552 | IFT140 | c.2517G= (p.Ala839=) c.99G= (p.Ala33=) c.*1015+54G= (n.*1015+54G=) n.1205G= n.292+54G= c.150G= (p.Ala50=) c.2271G= (p.Ala757=) c.1542G= (p.Ala514=) c.702G= (p.Ala234=) | |
| 16 | g.1526679C>G | CA492932535 | IFT140 | c.2517G>C (p.Ala839=) c.99G>C (p.Ala33=) c.*1015+54G>C (n.*1015+54G>C) n.1205G>C n.292+54G>C c.150G>C (p.Ala50=) c.2271G>C (p.Ala757=) c.1542G>C (p.Ala514=) c.702G>C (p.Ala234=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1526679C>T | CA7813599 | IFT140 | c.2517G>A (p.Ala839=) c.99G>A (p.Ala33=) c.*1015+54G>A (n.*1015+54G>A) n.1205G>A n.292+54G>A c.150G>A (p.Ala50=) c.2271G>A (p.Ala757=) c.1542G>A (p.Ala514=) c.702G>A (p.Ala234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1526680G>A | CA7813600 | IFT140 | c.2516C>T (p.Ala839Val) c.98C>T (p.Ala33Val) c.*1015+53C>T (n.*1015+53C>T) n.1204C>T n.292+53C>T c.149C>T (p.Ala50Val) c.2270C>T (p.Ala757Val) c.1541C>T (p.Ala514Val) c.701C>T (p.Ala234Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1526680G>C | CA394228180 | IFT140 | c.2516C>G (p.Ala839Gly) c.98C>G (p.Ala33Gly) c.*1015+53C>G (n.*1015+53C>G) n.1204C>G n.292+53C>G c.149C>G (p.Ala50Gly) c.2270C>G (p.Ala757Gly) c.1541C>G (p.Ala514Gly) c.701C>G (p.Ala234Gly) | |
| 16 | g.1526680G= | CA2201699553 | IFT140 | c.2516C= (p.Ala839=) c.98C= (p.Ala33=) c.*1015+53C= (n.*1015+53C=) n.1204C= n.292+53C= c.149C= (p.Ala50=) c.2270C= (p.Ala757=) c.1541C= (p.Ala514=) c.701C= (p.Ala234=) | |
| 16 | g.1526680G>T | CA394228182 | IFT140 | c.2516C>A (p.Ala839Glu) c.98C>A (p.Ala33Glu) c.*1015+53C>A (n.*1015+53C>A) n.1204C>A n.292+53C>A c.149C>A (p.Ala50Glu) c.2270C>A (p.Ala757Glu) c.1541C>A (p.Ala514Glu) c.701C>A (p.Ala234Glu) | gnomAD v4 |
| 16 | g.1526681C>A | CA394228184 | IFT140 | c.2515G>T (p.Ala839Ser) c.97G>T (p.Ala33Ser) c.*1015+52G>T (n.*1015+52G>T) n.1203G>T n.292+52G>T c.148G>T (p.Ala50Ser) c.2269G>T (p.Ala757Ser) c.1540G>T (p.Ala514Ser) c.700G>T (p.Ala234Ser) | |
| 16 | g.1526681C>G | CA394228186 | IFT140 | c.2515G>C (p.Ala839Pro) c.97G>C (p.Ala33Pro) c.*1015+52G>C (n.*1015+52G>C) n.1203G>C n.292+52G>C c.148G>C (p.Ala50Pro) c.2269G>C (p.Ala757Pro) c.1540G>C (p.Ala514Pro) c.700G>C (p.Ala234Pro) | |
| 16 | g.1526681C>T | CA394228188 | IFT140 | c.2515G>A (p.Ala839Thr) c.97G>A (p.Ala33Thr) c.*1015+52G>A (n.*1015+52G>A) n.1203G>A n.292+52G>A c.148G>A (p.Ala50Thr) c.2269G>A (p.Ala757Thr) c.1540G>A (p.Ala514Thr) c.700G>A (p.Ala234Thr) | gnomAD v4 |
| 16 | g.1526682C>A | CA394228190 | IFT140 | c.2514G>T (p.Glu838Asp) c.96G>T (p.Glu32Asp) c.*1015+51G>T (n.*1015+51G>T) n.1202G>T n.292+51G>T c.147G>T (p.Glu49Asp) c.2268G>T (p.Glu756Asp) c.1539G>T (p.Glu513Asp) c.699G>T (p.Glu233Asp) | gnomAD v4 |
| 16 | g.1526682C>G | CA394228192 | IFT140 | c.2514G>C (p.Glu838Asp) c.96G>C (p.Glu32Asp) c.*1015+51G>C (n.*1015+51G>C) n.1202G>C n.292+51G>C c.147G>C (p.Glu49Asp) c.2268G>C (p.Glu756Asp) c.1539G>C (p.Glu513Asp) c.699G>C (p.Glu233Asp) | gnomAD v4 |
| 16 | g.1526682C>T | CA492932536 | IFT140 | c.2514G>A (p.Glu838=) c.96G>A (p.Glu32=) c.*1015+51G>A (n.*1015+51G>A) n.1202G>A n.292+51G>A c.147G>A (p.Glu49=) c.2268G>A (p.Glu756=) c.1539G>A (p.Glu513=) c.699G>A (p.Glu233=) | gnomAD v4 |
| 16 | g.1526683T>A | CA394228196 | IFT140 | c.2513A>T (p.Glu838Val) c.95A>T (p.Glu32Val) c.*1015+50A>T (n.*1015+50A>T) n.1201A>T n.292+50A>T c.146A>T (p.Glu49Val) c.2267A>T (p.Glu756Val) c.1538A>T (p.Glu513Val) c.698A>T (p.Glu233Val) | |
| 16 | g.1526683T>C | CA394228194 | IFT140 | c.2513A>G (p.Glu838Gly) c.95A>G (p.Glu32Gly) c.*1015+50A>G (n.*1015+50A>G) n.1201A>G n.292+50A>G c.146A>G (p.Glu49Gly) c.2267A>G (p.Glu756Gly) c.1538A>G (p.Glu513Gly) c.698A>G (p.Glu233Gly) | gnomAD v4 |
| 16 | g.1526683T>G | CA394228195 | IFT140 | c.2513A>C (p.Glu838Ala) c.95A>C (p.Glu32Ala) c.*1015+50A>C (n.*1015+50A>C) n.1201A>C n.292+50A>C c.146A>C (p.Glu49Ala) c.2267A>C (p.Glu756Ala) c.1538A>C (p.Glu513Ala) c.698A>C (p.Glu233Ala) | |
| 16 | g.1526684C>A | CA7813601 | IFT140 | c.2512G>T (p.Glu838Ter) c.94G>T (p.Glu32Ter) c.*1015+49G>T (n.*1015+49G>T) n.1200G>T n.292+49G>T c.145G>T (p.Glu49Ter) c.2266G>T (p.Glu756Ter) c.1537G>T (p.Glu513Ter) c.697G>T (p.Glu233Ter) | dbSNP ExAC gnomAD v4 |
| 16 | g.1526684C= | CA2201699554 | IFT140 | c.2512G= (p.Glu838=) c.94G= (p.Glu32=) c.*1015+49G= (n.*1015+49G=) n.1200G= n.292+49G= c.145G= (p.Glu49=) c.2266G= (p.Glu756=) c.1537G= (p.Glu513=) c.697G= (p.Glu233=) | |
| 16 | g.1526684C>G | CA394228199 | IFT140 | c.2512G>C (p.Glu838Gln) c.94G>C (p.Glu32Gln) c.*1015+49G>C (n.*1015+49G>C) n.1200G>C n.292+49G>C c.145G>C (p.Glu49Gln) c.2266G>C (p.Glu756Gln) c.1537G>C (p.Glu513Gln) c.697G>C (p.Glu233Gln) | |
| 16 | g.1526684C>T | CA394228201 | IFT140 | c.2512G>A (p.Glu838Lys) c.94G>A (p.Glu32Lys) c.*1015+49G>A (n.*1015+49G>A) n.1200G>A n.292+49G>A c.145G>A (p.Glu49Lys) c.2266G>A (p.Glu756Lys) c.1537G>A (p.Glu513Lys) c.697G>A (p.Glu233Lys) | |
| 16 | g.1526685A>C | CA492932537 | IFT140 | c.2511T>G (p.Arg837=) c.93T>G (p.Arg31=) c.*1015+48T>G (n.*1015+48T>G) n.1199T>G n.292+48T>G c.144T>G (p.Arg48=) c.2265T>G (p.Arg755=) c.1536T>G (p.Arg512=) c.696T>G (p.Arg232=) | |
| 16 | g.1526685A>G | CA492932538 | IFT140 | c.2511T>C (p.Arg837=) c.93T>C (p.Arg31=) c.*1015+48T>C (n.*1015+48T>C) n.1199T>C n.292+48T>C c.144T>C (p.Arg48=) c.2265T>C (p.Arg755=) c.1536T>C (p.Arg512=) c.696T>C (p.Arg232=) | |
| 16 | g.1526685A>T | CA492932539 | IFT140 | c.2511T>A (p.Arg837=) c.93T>A (p.Arg31=) c.*1015+48T>A (n.*1015+48T>A) n.1199T>A n.292+48T>A c.144T>A (p.Arg48=) c.2265T>A (p.Arg755=) c.1536T>A (p.Arg512=) c.696T>A (p.Arg232=) | |
| 16 | g.1526686C>A | CA276680692 | IFT140 | c.2510G>T (p.Arg837Leu) c.92G>T (p.Arg31Leu) c.*1015+47G>T (n.*1015+47G>T) n.1198G>T n.292+47G>T c.143G>T (p.Arg48Leu) c.2264G>T (p.Arg755Leu) c.1535G>T (p.Arg512Leu) c.695G>T (p.Arg232Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1526686C= | CA2201699555 | IFT140 | c.2510G= (p.Arg837=) c.92G= (p.Arg31=) c.*1015+47G= (n.*1015+47G=) n.1198G= n.292+47G= c.143G= (p.Arg48=) c.2264G= (p.Arg755=) c.1535G= (p.Arg512=) c.695G= (p.Arg232=) | |
| 16 | g.1526686C>G | CA394228203 | IFT140 | c.2510G>C (p.Arg837Pro) c.92G>C (p.Arg31Pro) c.*1015+47G>C (n.*1015+47G>C) n.1198G>C n.292+47G>C c.143G>C (p.Arg48Pro) c.2264G>C (p.Arg755Pro) c.1535G>C (p.Arg512Pro) c.695G>C (p.Arg232Pro) | dbSNP gnomAD v4 |