UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52025778del | CA2573140978 | PKHD1 | c.4034del (p.Gly1345AlafsTer3) c.3323del (p.Gly1108AlafsTer3) c.3959del (p.Gly1320AlafsTer3) c.3770del (p.Gly1257AlafsTer3) c.2174del (p.Gly725AlafsTer3) n.4310del | ClinVar dbSNP |
| 6 | g.52025777C>A | CA364436329 | PKHD1 | c.4033G>T (p.Gly1345Cys) c.3322G>T (p.Gly1108Cys) c.3958G>T (p.Gly1320Cys) c.3769G>T (p.Gly1257Cys) c.2173G>T (p.Gly725Cys) n.4309G>T | gnomAD v4 |
| 6 | g.52025777C>G | CA364436335 | PKHD1 | c.4033G>C (p.Gly1345Arg) c.3322G>C (p.Gly1108Arg) c.3958G>C (p.Gly1320Arg) c.3769G>C (p.Gly1257Arg) c.2173G>C (p.Gly725Arg) n.4309G>C | |
| 6 | g.52025777C>T | CA364436331 | PKHD1 | c.4033G>A (p.Gly1345Ser) c.3322G>A (p.Gly1108Ser) c.3958G>A (p.Gly1320Ser) c.3769G>A (p.Gly1257Ser) c.2173G>A (p.Gly725Ser) n.4309G>A | |
| 6 | g.52025778C>A | CA364436338 | PKHD1 | c.4032G>T (p.Gln1344His) c.3321G>T (p.Gln1107His) c.3957G>T (p.Gln1319His) c.3768G>T (p.Gln1256His) c.2172G>T (p.Gln724His) n.4308G>T | |
| 6 | g.52025778C>G | CA364436339 | PKHD1 | c.4032G>C (p.Gln1344His) c.3321G>C (p.Gln1107His) c.3957G>C (p.Gln1319His) c.3768G>C (p.Gln1256His) c.2172G>C (p.Gln724His) n.4308G>C | |
| 6 | g.52025778C>T | CA450614857 | PKHD1 | c.4032G>A (p.Gln1344=) c.3321G>A (p.Gln1107=) c.3957G>A (p.Gln1319=) c.3768G>A (p.Gln1256=) c.2172G>A (p.Gln724=) n.4308G>A | |
| 6 | g.52025779T>A | CA364436340 | PKHD1 | c.4031A>T (p.Gln1344Leu) c.3320A>T (p.Gln1107Leu) c.3956A>T (p.Gln1319Leu) c.3767A>T (p.Gln1256Leu) c.2171A>T (p.Gln724Leu) n.4307A>T | |
| 6 | g.52025779T>C | CA364436341 | PKHD1 | c.4031A>G (p.Gln1344Arg) c.3320A>G (p.Gln1107Arg) c.3956A>G (p.Gln1319Arg) c.3767A>G (p.Gln1256Arg) c.2171A>G (p.Gln724Arg) n.4307A>G | |
| 6 | g.52025779T>G | CA364436342 | PKHD1 | c.4031A>C (p.Gln1344Pro) c.3320A>C (p.Gln1107Pro) c.3956A>C (p.Gln1319Pro) c.3767A>C (p.Gln1256Pro) c.2171A>C (p.Gln724Pro) n.4307A>C | |
| 6 | g.52025780G>A | CA364436343 | PKHD1 | c.4030C>T (p.Gln1344Ter) c.3319C>T (p.Gln1107Ter) c.3955C>T (p.Gln1319Ter) c.3766C>T (p.Gln1256Ter) c.2170C>T (p.Gln724Ter) n.4306C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52025780G>C | CA364436345 | PKHD1 | c.4030C>G (p.Gln1344Glu) c.3319C>G (p.Gln1107Glu) c.3955C>G (p.Gln1319Glu) c.3766C>G (p.Gln1256Glu) c.2170C>G (p.Gln724Glu) n.4306C>G | |
| 6 | g.52025780G= | CA1628648476 | PKHD1 | c.4030C= (p.Gln1344=) c.3319C= (p.Gln1107=) c.3955C= (p.Gln1319=) c.3766C= (p.Gln1256=) c.2170C= (p.Gln724=) n.4306C= | |
| 6 | g.52025780G>T | CA364436348 | PKHD1 | c.4030C>A (p.Gln1344Lys) c.3319C>A (p.Gln1107Lys) c.3955C>A (p.Gln1319Lys) c.3766C>A (p.Gln1256Lys) c.2170C>A (p.Gln724Lys) n.4306C>A | |
| 6 | g.52025781G>A | CA450614860 | PKHD1 | c.4029C>T (p.Phe1343=) c.3318C>T (p.Phe1106=) c.3954C>T (p.Phe1318=) c.3765C>T (p.Phe1255=) c.2169C>T (p.Phe723=) n.4305C>T | |
| 6 | g.52025781G>C | CA364436350 | PKHD1 | c.4029C>G (p.Phe1343Leu) c.3318C>G (p.Phe1106Leu) c.3954C>G (p.Phe1318Leu) c.3765C>G (p.Phe1255Leu) c.2169C>G (p.Phe723Leu) n.4305C>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025781G= | CA1628648477 | PKHD1 | c.4029C= (p.Phe1343=) c.3318C= (p.Phe1106=) c.3954C= (p.Phe1318=) c.3765C= (p.Phe1255=) c.2169C= (p.Phe723=) n.4305C= | |
| 6 | g.52025781G>T | CA364436353 | PKHD1 | c.4029C>A (p.Phe1343Leu) c.3318C>A (p.Phe1106Leu) c.3954C>A (p.Phe1318Leu) c.3765C>A (p.Phe1255Leu) c.2169C>A (p.Phe723Leu) n.4305C>A | |
| 6 | g.52025782A= | CA1628648478 | PKHD1 | c.4028T= (p.Phe1343=) c.3317T= (p.Phe1106=) c.3953T= (p.Phe1318=) c.3764T= (p.Phe1255=) c.2168T= (p.Phe723=) n.4304T= | |
| 6 | g.52025782A>C | CA364436358 | PKHD1 | c.4028T>G (p.Phe1343Cys) c.3317T>G (p.Phe1106Cys) c.3953T>G (p.Phe1318Cys) c.3764T>G (p.Phe1255Cys) c.2168T>G (p.Phe723Cys) n.4304T>G | |
| 6 | g.52025782A>G | CA364436356 | PKHD1 | c.4028T>C (p.Phe1343Ser) c.3317T>C (p.Phe1106Ser) c.3953T>C (p.Phe1318Ser) c.3764T>C (p.Phe1255Ser) c.2168T>C (p.Phe723Ser) n.4304T>C | gnomAD v4 |
| 6 | g.52025782A>T | CA364436355 | PKHD1 | c.4028T>A (p.Phe1343Tyr) c.3317T>A (p.Phe1106Tyr) c.3953T>A (p.Phe1318Tyr) c.3764T>A (p.Phe1255Tyr) c.2168T>A (p.Phe723Tyr) n.4304T>A | dbSNP |
| 6 | g.52025783A>C | CA364436361 | PKHD1 | c.4027T>G (p.Phe1343Val) c.3316T>G (p.Phe1106Val) c.3952T>G (p.Phe1318Val) c.3763T>G (p.Phe1255Val) c.2167T>G (p.Phe723Val) n.4303T>G | |
| 6 | g.52025783A>G | CA364436364 | PKHD1 | c.4027T>C (p.Phe1343Leu) c.3316T>C (p.Phe1106Leu) c.3952T>C (p.Phe1318Leu) c.3763T>C (p.Phe1255Leu) c.2167T>C (p.Phe723Leu) n.4303T>C | |
| 6 | g.52025783A>T | CA364436367 | PKHD1 | c.4027T>A (p.Phe1343Ile) c.3316T>A (p.Phe1106Ile) c.3952T>A (p.Phe1318Ile) c.3763T>A (p.Phe1255Ile) c.2167T>A (p.Phe723Ile) n.4303T>A | |
| 6 | g.52025784G>A | CA450614863 | PKHD1 | c.4026C>T (p.Ser1342=) c.3315C>T (p.Ser1105=) c.3951C>T (p.Ser1317=) c.3762C>T (p.Ser1254=) c.2166C>T (p.Ser722=) n.4302C>T | gnomAD v4 |
| 6 | g.52025784G>C | CA450614866 | PKHD1 | c.4026C>G (p.Ser1342=) c.3315C>G (p.Ser1105=) c.3951C>G (p.Ser1317=) c.3762C>G (p.Ser1254=) c.2166C>G (p.Ser722=) n.4302C>G | |
| 6 | g.52025784G>T | CA450614862 | PKHD1 | c.4026C>A (p.Ser1342=) c.3315C>A (p.Ser1105=) c.3951C>A (p.Ser1317=) c.3762C>A (p.Ser1254=) c.2166C>A (p.Ser722=) n.4302C>A | gnomAD v4 |
| 6 | g.52025785del | CA2573140979 | PKHD1 | c.4026del (p.Phe1343SerfsTer5) c.3315del (p.Phe1106SerfsTer5) c.3951del (p.Phe1318SerfsTer5) c.3762del (p.Phe1255SerfsTer5) c.2166del (p.Phe723SerfsTer5) n.4302del | ClinVar dbSNP |
| 6 | g.52025785G>A | CA3852793 | PKHD1 | c.4025C>T (p.Ser1342Phe) c.3314C>T (p.Ser1105Phe) c.3950C>T (p.Ser1317Phe) c.3761C>T (p.Ser1254Phe) c.2165C>T (p.Ser722Phe) n.4301C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52025785G>C | CA364436370 | PKHD1 | c.4025C>G (p.Ser1342Cys) c.3314C>G (p.Ser1105Cys) c.3950C>G (p.Ser1317Cys) c.3761C>G (p.Ser1254Cys) c.2165C>G (p.Ser722Cys) n.4301C>G | |
| 6 | g.52025785G= | CA1628648482 | PKHD1 | c.4025C= (p.Ser1342=) c.3314C= (p.Ser1105=) c.3950C= (p.Ser1317=) c.3761C= (p.Ser1254=) c.2165C= (p.Ser722=) n.4301C= | |
| 6 | g.52025785G>T | CA364436372 | PKHD1 | c.4025C>A (p.Ser1342Tyr) c.3314C>A (p.Ser1105Tyr) c.3950C>A (p.Ser1317Tyr) c.3761C>A (p.Ser1254Tyr) c.2165C>A (p.Ser722Tyr) n.4301C>A | gnomAD v4 COSMIC COSMIC |
| 6 | g.52025786A>C | CA364436375 | PKHD1 | c.4024T>G (p.Ser1342Ala) c.3313T>G (p.Ser1105Ala) c.3949T>G (p.Ser1317Ala) c.3760T>G (p.Ser1254Ala) c.2164T>G (p.Ser722Ala) n.4300T>G | |
| 6 | g.52025786A>G | CA364436373 | PKHD1 | c.4024T>C (p.Ser1342Pro) c.3313T>C (p.Ser1105Pro) c.3949T>C (p.Ser1317Pro) c.3760T>C (p.Ser1254Pro) c.2164T>C (p.Ser722Pro) n.4300T>C | |
| 6 | g.52025786A>T | CA364436374 | PKHD1 | c.4024T>A (p.Ser1342Thr) c.3313T>A (p.Ser1105Thr) c.3949T>A (p.Ser1317Thr) c.3760T>A (p.Ser1254Thr) c.2164T>A (p.Ser722Thr) n.4300T>A | gnomAD v4 |
| 6 | g.52025787C>A | CA364436377 | PKHD1 | c.4023G>T (p.Gln1341His) c.3312G>T (p.Gln1104His) c.3948G>T (p.Gln1316His) c.3759G>T (p.Gln1253His) c.2163G>T (p.Gln721His) n.4299G>T | |
| 6 | g.52025787C>G | CA364436378 | PKHD1 | c.4023G>C (p.Gln1341His) c.3312G>C (p.Gln1104His) c.3948G>C (p.Gln1316His) c.3759G>C (p.Gln1253His) c.2163G>C (p.Gln721His) n.4299G>C | |
| 6 | g.52025787C>T | CA450614871 | PKHD1 | c.4023G>A (p.Gln1341=) c.3312G>A (p.Gln1104=) c.3948G>A (p.Gln1316=) c.3759G>A (p.Gln1253=) c.2163G>A (p.Gln721=) n.4299G>A | |
| 6 | g.52025787_52025789delinsCTG | CA1628648484 | PKHD1 | c.4021_4023delinsCAG (p.Gln1341=) c.3310_3312delinsCAG (p.Gln1104=) c.3946_3948delinsCAG (p.Gln1316=) c.3757_3759delinsCAG (p.Gln1253=) c.2161_2163delinsCAG (p.Gln721=) n.4297_4299delinsCAG | |
| 6 | g.52025788T>A | CA364436380 | PKHD1 | c.4022A>T (p.Gln1341Leu) c.3311A>T (p.Gln1104Leu) c.3947A>T (p.Gln1316Leu) c.3758A>T (p.Gln1253Leu) c.2162A>T (p.Gln721Leu) n.4298A>T | |
| 6 | g.52025788T>C | CA364436382 | PKHD1 | c.4022A>G (p.Gln1341Arg) c.3311A>G (p.Gln1104Arg) c.3947A>G (p.Gln1316Arg) c.3758A>G (p.Gln1253Arg) c.2162A>G (p.Gln721Arg) n.4298A>G | COSMIC COSMIC |
| 6 | g.52025788T>G | CA364436384 | PKHD1 | c.4022A>C (p.Gln1341Pro) c.3311A>C (p.Gln1104Pro) c.3947A>C (p.Gln1316Pro) c.3758A>C (p.Gln1253Pro) c.2162A>C (p.Gln721Pro) n.4298A>C | |
| 6 | g.52025791_52025792del | CA1628648487 | PKHD1 | c.4021_4022del (p.Gln1341ValfsTer?) c.3310_3311del (p.Gln1104ValfsTer?) c.3946_3947del (p.Gln1316ValfsTer?) c.3757_3758del (p.Gln1253ValfsTer?) c.2161_2162del (p.Gln721ValfsTer?) n.4297_4298del | ClinVar dbSNP |
| 6 | g.52025789G>A | CA364436387 | PKHD1 | c.4021C>T (p.Gln1341Ter) c.3310C>T (p.Gln1104Ter) c.3946C>T (p.Gln1316Ter) c.3757C>T (p.Gln1253Ter) c.2161C>T (p.Gln721Ter) n.4297C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.52025789G>C | CA364436392 | PKHD1 | c.4021C>G (p.Gln1341Glu) c.3310C>G (p.Gln1104Glu) c.3946C>G (p.Gln1316Glu) c.3757C>G (p.Gln1253Glu) c.2161C>G (p.Gln721Glu) n.4297C>G | gnomAD v4 |
| 6 | g.52025789G= | CA1628648488 | PKHD1 | c.4021C= (p.Gln1341=) c.3310C= (p.Gln1104=) c.3946C= (p.Gln1316=) c.3757C= (p.Gln1253=) c.2161C= (p.Gln721=) n.4297C= | |
| 6 | g.52025789G>T | CA364436389 | PKHD1 | c.4021C>A (p.Gln1341Lys) c.3310C>A (p.Gln1104Lys) c.3946C>A (p.Gln1316Lys) c.3757C>A (p.Gln1253Lys) c.2161C>A (p.Gln721Lys) n.4297C>A | |
| 6 | g.52025790T>A | CA450614877 | PKHD1 | c.4020A>T (p.Thr1340=) c.3309A>T (p.Thr1103=) c.3945A>T (p.Thr1315=) c.3756A>T (p.Thr1252=) c.2160A>T (p.Thr720=) n.4296A>T | |
| 6 | g.52025790T>C | CA450614876 | PKHD1 | c.4020A>G (p.Thr1340=) c.3309A>G (p.Thr1103=) c.3945A>G (p.Thr1315=) c.3756A>G (p.Thr1252=) c.2160A>G (p.Thr720=) n.4296A>G |