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.52025392_52025395delinsAGAGGGGAATA | CA2695206471 | PKHD1 | c.4415_4418delinsTATTCCCCTCT (p.Cys1472LeufsTer?) c.4101+314_4101+317delinsTATTCCCCTCT (n.4101+314_4101+317delinsTATTCCCCTCT) c.3704_3707delinsTATTCCCCTCT (p.Cys1235LeufsTer?) c.4340_4343delinsTATTCCCCTCT (p.Cys1447LeufsTer?) c.4151_4154delinsTATTCCCCTCT (p.Cys1384LeufsTer?) c.2555_2558delinsTATTCCCCTCT (p.Cys852LeufsTer?) n.4691_4694delinsTATTCCCCTCT | |
| 6 | g.52025392_52025396del | CA2580075532 | PKHD1 | c.4414_4418del (p.Cys1472GlyfsTer?) c.4101+313_4101+317del (n.4101+313_4101+317del) c.3703_3707del (p.Cys1235GlyfsTer?) c.4339_4343del (p.Cys1447GlyfsTer?) c.4150_4154del (p.Cys1384GlyfsTer?) c.2554_2558del (p.Cys852GlyfsTer?) n.4690_4694del | ClinVar |
| 6 | g.52025394_52025395delinsAC | CA1628647769 | PKHD1 | c.4415_4416delinsGT (p.Cys1472=) c.4101+314_4101+315delinsGT (n.4101+314_4101+315delinsGT) c.3704_3705delinsGT (p.Cys1235=) c.4340_4341delinsGT (p.Cys1447=) c.4151_4152delinsGT (p.Cys1384=) c.2555_2556delinsGT (p.Cys852=) n.4691_4692delinsGT | |
| 6 | g.52025395C>A | CA364433330 | PKHD1 | c.4415G>T (p.Cys1472Phe) c.4101+314G>T (n.4101+314G>T) c.3704G>T (p.Cys1235Phe) c.4340G>T (p.Cys1447Phe) c.4151G>T (p.Cys1384Phe) c.2555G>T (p.Cys852Phe) n.4691G>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025395C= | CA1628647779 | PKHD1 | c.4415G= (p.Cys1472=) c.4101+314G= (n.4101+314G=) c.3704G= (p.Cys1235=) c.4340G= (p.Cys1447=) c.4151G= (p.Cys1384=) c.2555G= (p.Cys852=) n.4691G= | |
| 6 | g.52025395C>G | CA364433334 | PKHD1 | c.4415G>C (p.Cys1472Ser) c.4101+314G>C (n.4101+314G>C) c.3704G>C (p.Cys1235Ser) c.4340G>C (p.Cys1447Ser) c.4151G>C (p.Cys1384Ser) c.2555G>C (p.Cys852Ser) n.4691G>C | |
| 6 | g.52025395C>T | CA364433343 | PKHD1 | c.4415G>A (p.Cys1472Tyr) c.4101+314G>A (n.4101+314G>A) c.3704G>A (p.Cys1235Tyr) c.4340G>A (p.Cys1447Tyr) c.4151G>A (p.Cys1384Tyr) c.2555G>A (p.Cys852Tyr) n.4691G>A | ClinVar |
| 6 | g.52025395delinsGGGGAATA | CA224077 | PKHD1 | c.4415delinsTATTCCCC (p.Cys1472LeufsTer?) c.4101+314delinsTATTCCCC (n.4101+314delinsTATTCCCC) c.3704delinsTATTCCCC (p.Cys1235LeufsTer?) c.4340delinsTATTCCCC (p.Cys1447LeufsTer?) c.4151delinsTATTCCCC (p.Cys1384LeufsTer?) c.2555delinsTATTCCCC (p.Cys852LeufsTer?) n.4691delinsTATTCCCC | ClinVar dbSNP |
| 6 | g.52025396A= | CA1628647783 | PKHD1 | c.4414T= (p.Cys1472=) c.4101+313T= (n.4101+313T=) c.3703T= (p.Cys1235=) c.4339T= (p.Cys1447=) c.4150T= (p.Cys1384=) c.2554T= (p.Cys852=) n.4690T= | |
| 6 | g.52025396A>C | CA364433346 | PKHD1 | c.4414T>G (p.Cys1472Gly) c.4101+313T>G (n.4101+313T>G) c.3703T>G (p.Cys1235Gly) c.4339T>G (p.Cys1447Gly) c.4150T>G (p.Cys1384Gly) c.2554T>G (p.Cys852Gly) n.4690T>G | |
| 6 | g.52025396A>G | CA364433350 | PKHD1 | c.4414T>C (p.Cys1472Arg) c.4101+313T>C (n.4101+313T>C) c.3703T>C (p.Cys1235Arg) c.4339T>C (p.Cys1447Arg) c.4150T>C (p.Cys1384Arg) c.2554T>C (p.Cys852Arg) n.4690T>C | COSMIC COSMIC |
| 6 | g.52025396A>T | CA364433353 | PKHD1 | c.4414T>A (p.Cys1472Ser) c.4101+313T>A (n.4101+313T>A) c.3703T>A (p.Cys1235Ser) c.4339T>A (p.Cys1447Ser) c.4150T>A (p.Cys1384Ser) c.2554T>A (p.Cys852Ser) n.4690T>A | dbSNP |
| 6 | g.52025397C>A | CA364433359 | PKHD1 | c.4413G>T (p.Glu1471Asp) c.4101+312G>T (n.4101+312G>T) c.3702G>T (p.Glu1234Asp) c.4338G>T (p.Glu1446Asp) c.4149G>T (p.Glu1383Asp) c.2553G>T (p.Glu851Asp) n.4689G>T | dbSNP |
| 6 | g.52025397C= | CA1628647787 | PKHD1 | c.4413G= (p.Glu1471=) c.4101+312G= (n.4101+312G=) c.3702G= (p.Glu1234=) c.4338G= (p.Glu1446=) c.4149G= (p.Glu1383=) c.2553G= (p.Glu851=) n.4689G= | |
| 6 | g.52025397C>G | CA364433362 | PKHD1 | c.4413G>C (p.Glu1471Asp) c.4101+312G>C (n.4101+312G>C) c.3702G>C (p.Glu1234Asp) c.4338G>C (p.Glu1446Asp) c.4149G>C (p.Glu1383Asp) c.2553G>C (p.Glu851Asp) n.4689G>C | |
| 6 | g.52025397C>T | CA450614510 | PKHD1 | c.4413G>A (p.Glu1471=) c.4101+312G>A (n.4101+312G>A) c.3702G>A (p.Glu1234=) c.4338G>A (p.Glu1446=) c.4149G>A (p.Glu1383=) c.2553G>A (p.Glu851=) n.4689G>A | ClinVar dbSNP |
| 6 | g.52025398T>A | CA364433364 | PKHD1 | c.4412A>T (p.Glu1471Val) c.4101+311A>T (n.4101+311A>T) c.3701A>T (p.Glu1234Val) c.4337A>T (p.Glu1446Val) c.4148A>T (p.Glu1383Val) c.2552A>T (p.Glu851Val) n.4688A>T | |
| 6 | g.52025398T>C | CA364433369 | PKHD1 | c.4412A>G (p.Glu1471Gly) c.4101+311A>G (n.4101+311A>G) c.3701A>G (p.Glu1234Gly) c.4337A>G (p.Glu1446Gly) c.4148A>G (p.Glu1383Gly) c.2552A>G (p.Glu851Gly) n.4688A>G | |
| 6 | g.52025398T>G | CA364433372 | PKHD1 | c.4412A>C (p.Glu1471Ala) c.4101+311A>C (n.4101+311A>C) c.3701A>C (p.Glu1234Ala) c.4337A>C (p.Glu1446Ala) c.4148A>C (p.Glu1383Ala) c.2552A>C (p.Glu851Ala) n.4688A>C | |
| 6 | g.52025399C>A | CA364433373 | PKHD1 | c.4411G>T (p.Glu1471Ter) c.4101+310G>T (n.4101+310G>T) c.3700G>T (p.Glu1234Ter) c.4336G>T (p.Glu1446Ter) c.4147G>T (p.Glu1383Ter) c.2551G>T (p.Glu851Ter) n.4687G>T | COSMIC |
| 6 | g.52025399C= | CA1628647792 | PKHD1 | c.4411G= (p.Glu1471=) c.4101+310G= (n.4101+310G=) c.3700G= (p.Glu1234=) c.4336G= (p.Glu1446=) c.4147G= (p.Glu1383=) c.2551G= (p.Glu851=) n.4687G= | |
| 6 | g.52025399C>G | CA364433376 | PKHD1 | c.4411G>C (p.Glu1471Gln) c.4101+310G>C (n.4101+310G>C) c.3700G>C (p.Glu1234Gln) c.4336G>C (p.Glu1446Gln) c.4147G>C (p.Glu1383Gln) c.2551G>C (p.Glu851Gln) n.4687G>C | |
| 6 | g.52025399C>T | CA3852724 | PKHD1 | c.4411G>A (p.Glu1471Lys) c.4101+310G>A (n.4101+310G>A) c.3700G>A (p.Glu1234Lys) c.4336G>A (p.Glu1446Lys) c.4147G>A (p.Glu1383Lys) c.2551G>A (p.Glu851Lys) n.4687G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025400G>A | CA3852725 | PKHD1 | c.4410C>T (p.Ser1470=) c.4101+309C>T (n.4101+309C>T) c.3699C>T (p.Ser1233=) c.4335C>T (p.Ser1445=) c.4146C>T (p.Ser1382=) c.2550C>T (p.Ser850=) n.4686C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025400G>C | CA364433401 | PKHD1 | c.4410C>G (p.Ser1470Arg) c.4101+309C>G (n.4101+309C>G) c.3699C>G (p.Ser1233Arg) c.4335C>G (p.Ser1445Arg) c.4146C>G (p.Ser1382Arg) c.2550C>G (p.Ser850Arg) n.4686C>G | |
| 6 | g.52025400G= | CA1628647795 | PKHD1 | c.4410C= (p.Ser1470=) c.4101+309C= (n.4101+309C=) c.3699C= (p.Ser1233=) c.4335C= (p.Ser1445=) c.4146C= (p.Ser1382=) c.2550C= (p.Ser850=) n.4686C= | |
| 6 | g.52025400G>T | CA364433380 | PKHD1 | c.4410C>A (p.Ser1470Arg) c.4101+309C>A (n.4101+309C>A) c.3699C>A (p.Ser1233Arg) c.4335C>A (p.Ser1445Arg) c.4146C>A (p.Ser1382Arg) c.2550C>A (p.Ser850Arg) n.4686C>A | gnomAD v4 |
| 6 | g.52025401C>A | CA364433407 | PKHD1 | c.4409G>T (p.Ser1470Ile) c.4101+308G>T (n.4101+308G>T) c.3698G>T (p.Ser1233Ile) c.4334G>T (p.Ser1445Ile) c.4145G>T (p.Ser1382Ile) c.2549G>T (p.Ser850Ile) n.4685G>T | |
| 6 | g.52025401C= | CA1628647799 | PKHD1 | c.4409G= (p.Ser1470=) c.4101+308G= (n.4101+308G=) c.3698G= (p.Ser1233=) c.4334G= (p.Ser1445=) c.4145G= (p.Ser1382=) c.2549G= (p.Ser850=) n.4685G= | |
| 6 | g.52025401C>G | CA3852726 | PKHD1 | c.4409G>C (p.Ser1470Thr) c.4101+308G>C (n.4101+308G>C) c.3698G>C (p.Ser1233Thr) c.4334G>C (p.Ser1445Thr) c.4145G>C (p.Ser1382Thr) c.2549G>C (p.Ser850Thr) n.4685G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52025401C>T | CA364433426 | PKHD1 | c.4409G>A (p.Ser1470Asn) c.4101+308G>A (n.4101+308G>A) c.3698G>A (p.Ser1233Asn) c.4334G>A (p.Ser1445Asn) c.4145G>A (p.Ser1382Asn) c.2549G>A (p.Ser850Asn) n.4685G>A | gnomAD v4 |
| 6 | g.52025402T>A | CA364433427 | PKHD1 | c.4408A>T (p.Ser1470Cys) c.4101+307A>T (n.4101+307A>T) c.3697A>T (p.Ser1233Cys) c.4333A>T (p.Ser1445Cys) c.4144A>T (p.Ser1382Cys) c.2548A>T (p.Ser850Cys) n.4684A>T | |
| 6 | g.52025402T>C | CA364433428 | PKHD1 | c.4408A>G (p.Ser1470Gly) c.4101+307A>G (n.4101+307A>G) c.3697A>G (p.Ser1233Gly) c.4333A>G (p.Ser1445Gly) c.4144A>G (p.Ser1382Gly) c.2548A>G (p.Ser850Gly) n.4684A>G | |
| 6 | g.52025402T>G | CA364433429 | PKHD1 | c.4408A>C (p.Ser1470Arg) c.4101+307A>C (n.4101+307A>C) c.3697A>C (p.Ser1233Arg) c.4333A>C (p.Ser1445Arg) c.4144A>C (p.Ser1382Arg) c.2548A>C (p.Ser850Arg) n.4684A>C | |
| 6 | g.52025403G>A | CA450614515 | PKHD1 | c.4407C>T (p.Thr1469=) c.4101+306C>T (n.4101+306C>T) c.3696C>T (p.Thr1232=) c.4332C>T (p.Thr1444=) c.4143C>T (p.Thr1381=) c.2547C>T (p.Thr849=) n.4683C>T | |
| 6 | g.52025403G>C | CA450614518 | PKHD1 | c.4407C>G (p.Thr1469=) c.4101+306C>G (n.4101+306C>G) c.3696C>G (p.Thr1232=) c.4332C>G (p.Thr1444=) c.4143C>G (p.Thr1381=) c.2547C>G (p.Thr849=) n.4683C>G | |
| 6 | g.52025403G>T | CA450614516 | PKHD1 | c.4407C>A (p.Thr1469=) c.4101+306C>A (n.4101+306C>A) c.3696C>A (p.Thr1232=) c.4332C>A (p.Thr1444=) c.4143C>A (p.Thr1381=) c.2547C>A (p.Thr849=) n.4683C>A | |
| 6 | g.52025404G>A | CA138946934 | PKHD1 | c.4406C>T (p.Thr1469Ile) c.4101+305C>T (n.4101+305C>T) c.3695C>T (p.Thr1232Ile) c.4331C>T (p.Thr1444Ile) c.4142C>T (p.Thr1381Ile) c.2546C>T (p.Thr849Ile) n.4682C>T | dbSNP |
| 6 | g.52025404G>C | CA3852727 | PKHD1 | c.4406C>G (p.Thr1469Ser) c.4101+305C>G (n.4101+305C>G) c.3695C>G (p.Thr1232Ser) c.4331C>G (p.Thr1444Ser) c.4142C>G (p.Thr1381Ser) c.2546C>G (p.Thr849Ser) n.4682C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52025404G= | CA1628647807 | PKHD1 | c.4406C= (p.Thr1469=) c.4101+305C= (n.4101+305C=) c.3695C= (p.Thr1232=) c.4331C= (p.Thr1444=) c.4142C= (p.Thr1381=) c.2546C= (p.Thr849=) n.4682C= | |
| 6 | g.52025404G>T | CA364433440 | PKHD1 | c.4406C>A (p.Thr1469Asn) c.4101+305C>A (n.4101+305C>A) c.3695C>A (p.Thr1232Asn) c.4331C>A (p.Thr1444Asn) c.4142C>A (p.Thr1381Asn) c.2546C>A (p.Thr849Asn) n.4682C>A | |
| 6 | g.52025405T>A | CA364433446 | PKHD1 | c.4405A>T (p.Thr1469Ser) c.4101+304A>T (n.4101+304A>T) c.3694A>T (p.Thr1232Ser) c.4330A>T (p.Thr1444Ser) c.4141A>T (p.Thr1381Ser) c.2545A>T (p.Thr849Ser) n.4681A>T | |
| 6 | g.52025405T>C | CA364433449 | PKHD1 | c.4405A>G (p.Thr1469Ala) c.4101+304A>G (n.4101+304A>G) c.3694A>G (p.Thr1232Ala) c.4330A>G (p.Thr1444Ala) c.4141A>G (p.Thr1381Ala) c.2545A>G (p.Thr849Ala) n.4681A>G | |
| 6 | g.52025405T>G | CA364433453 | PKHD1 | c.4405A>C (p.Thr1469Pro) c.4101+304A>C (n.4101+304A>C) c.3694A>C (p.Thr1232Pro) c.4330A>C (p.Thr1444Pro) c.4141A>C (p.Thr1381Pro) c.2545A>C (p.Thr849Pro) n.4681A>C | |
| 6 | g.52025406T>A | CA450614524 | PKHD1 | c.4404A>T (p.Leu1468=) c.4101+303A>T (n.4101+303A>T) c.3693A>T (p.Leu1231=) c.4329A>T (p.Leu1443=) c.4140A>T (p.Leu1380=) c.2544A>T (p.Leu848=) n.4680A>T | |
| 6 | g.52025406T>C | CA450614522 | PKHD1 | c.4404A>G (p.Leu1468=) c.4101+303A>G (n.4101+303A>G) c.3693A>G (p.Leu1231=) c.4329A>G (p.Leu1443=) c.4140A>G (p.Leu1380=) c.2544A>G (p.Leu848=) n.4680A>G | |
| 6 | g.52025406T>G | CA450614520 | PKHD1 | c.4404A>C (p.Leu1468=) c.4101+303A>C (n.4101+303A>C) c.3693A>C (p.Leu1231=) c.4329A>C (p.Leu1443=) c.4140A>C (p.Leu1380=) c.2544A>C (p.Leu848=) n.4680A>C | COSMIC COSMIC |
| 6 | g.52025407A= | CA1628647810 | PKHD1 | c.4403T= (p.Leu1468=) c.4101+302T= (n.4101+302T=) c.3692T= (p.Leu1231=) c.4328T= (p.Leu1443=) c.4139T= (p.Leu1380=) c.2543T= (p.Leu848=) n.4679T= | |
| 6 | g.52025407A>C | CA364433458 | PKHD1 | c.4403T>G (p.Leu1468Arg) c.4101+302T>G (n.4101+302T>G) c.3692T>G (p.Leu1231Arg) c.4328T>G (p.Leu1443Arg) c.4139T>G (p.Leu1380Arg) c.2543T>G (p.Leu848Arg) n.4679T>G | |
| 6 | g.52025407A>G | CA138946954 | PKHD1 | c.4403T>C (p.Leu1468Pro) c.4101+302T>C (n.4101+302T>C) c.3692T>C (p.Leu1231Pro) c.4328T>C (p.Leu1443Pro) c.4139T>C (p.Leu1380Pro) c.2543T>C (p.Leu848Pro) n.4679T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |