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 |
|---|---|---|---|---|---|
| 7 | g.82824396G>A | CA4318800 | PCLO | c.14436C>T (p.Ser4812=) n.931C>T c.699C>T (p.Ser233=) c.7341C>T (p.Ser2447=) c.7314C>T (p.Ser2438=) n.16005C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.82824396G>C | CA368020528 | PCLO | c.14436C>G (p.Ser4812Arg) n.931C>G c.699C>G (p.Ser233Arg) c.7341C>G (p.Ser2447Arg) c.7314C>G (p.Ser2438Arg) n.16005C>G | gnomAD v4 |
| 7 | g.82824396G= | CA1721404390 | PCLO | c.14436C= (p.Ser4812=) n.931C= c.699C= (p.Ser233=) c.7341C= (p.Ser2447=) c.7314C= (p.Ser2438=) n.16005C= | |
| 7 | g.82824396G>T | CA4318799 | PCLO | c.14436C>A (p.Ser4812Arg) n.931C>A c.699C>A (p.Ser233Arg) c.7341C>A (p.Ser2447Arg) c.7314C>A (p.Ser2438Arg) n.16005C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.82824397C>A | CA368020529 | PCLO | c.14435G>T (p.Ser4812Ile) n.930G>T c.698G>T (p.Ser233Ile) c.7340G>T (p.Ser2447Ile) c.7313G>T (p.Ser2438Ile) n.16004G>T | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.82824397C>G | CA368020530 | PCLO | c.14435G>C (p.Ser4812Thr) n.930G>C c.698G>C (p.Ser233Thr) c.7340G>C (p.Ser2447Thr) c.7313G>C (p.Ser2438Thr) n.16004G>C | |
| 7 | g.82824397C>T | CA368020531 | PCLO | c.14435G>A (p.Ser4812Asn) n.930G>A c.698G>A (p.Ser233Asn) c.7340G>A (p.Ser2447Asn) c.7313G>A (p.Ser2438Asn) n.16004G>A | |
| 7 | g.82824398T>A | CA368020532 | PCLO | c.14434A>T (p.Ser4812Cys) n.929A>T c.697A>T (p.Ser233Cys) c.7339A>T (p.Ser2447Cys) c.7312A>T (p.Ser2438Cys) n.16003A>T | |
| 7 | g.82824398T>C | CA368020533 | PCLO | c.14434A>G (p.Ser4812Gly) n.929A>G c.697A>G (p.Ser233Gly) c.7339A>G (p.Ser2447Gly) c.7312A>G (p.Ser2438Gly) n.16003A>G | dbSNP |
| 7 | g.82824398T>G | CA368020534 | PCLO | c.14434A>C (p.Ser4812Arg) n.929A>C c.697A>C (p.Ser233Arg) c.7339A>C (p.Ser2447Arg) c.7312A>C (p.Ser2438Arg) n.16003A>C | |
| 7 | g.82824398T= | CA1721404392 | PCLO | c.14434A= (p.Ser4812=) n.929A= c.697A= (p.Ser233=) c.7339A= (p.Ser2447=) c.7312A= (p.Ser2438=) n.16003A= | |
| 7 | g.82824398_82824407delinsTAGATAAATC | CA1721404391 | PCLO | c.14425_14434delinsGATTTATCTA (p.Asp4809=) n.920_929delinsGATTTATCTA c.688_697delinsGATTTATCTA (p.Asp230=) c.7330_7339delinsGATTTATCTA (p.Asp2444=) c.7303_7312delinsGATTTATCTA (p.Asp2435=) n.15994_16003delinsGATTTATCTA | |
| 7 | g.82824399A= | CA1721404393 | PCLO | c.14433T= (p.Ser4811=) n.928T= c.696T= (p.Ser232=) c.7338T= (p.Ser2446=) c.7311T= (p.Ser2437=) n.16002T= | |
| 7 | g.82824399A>C | CA456286644 | PCLO | c.14433T>G (p.Ser4811=) n.928T>G c.696T>G (p.Ser232=) c.7338T>G (p.Ser2446=) c.7311T>G (p.Ser2437=) n.16002T>G | |
| 7 | g.82824399A>G | CA4318802 | PCLO | c.14433T>C (p.Ser4811=) n.928T>C c.696T>C (p.Ser232=) c.7338T>C (p.Ser2446=) c.7311T>C (p.Ser2437=) n.16002T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.82824399A>T | CA456286645 | PCLO | c.14433T>A (p.Ser4811=) n.928T>A c.696T>A (p.Ser232=) c.7338T>A (p.Ser2446=) c.7311T>A (p.Ser2437=) n.16002T>A | dbSNP |
| 7 | g.82824400_82824408del | CA4318801 | PCLO | c.14425_14433del (p.Asp4809_Ser4811del) n.920_928del c.688_696del (p.Asp230_Ser232del) c.7330_7338del (p.Asp2444_Ser2446del) c.7303_7311del (p.Asp2435_Ser2437del) n.15994_16002del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.82824400G>A | CA4318803 | PCLO | c.14432C>T (p.Ser4811Phe) n.927C>T c.695C>T (p.Ser232Phe) c.7337C>T (p.Ser2446Phe) c.7310C>T (p.Ser2437Phe) n.16001C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.82824400G>C | CA368020535 | PCLO | c.14432C>G (p.Ser4811Cys) n.927C>G c.695C>G (p.Ser232Cys) c.7337C>G (p.Ser2446Cys) c.7310C>G (p.Ser2437Cys) n.16001C>G | gnomAD v4 |
| 7 | g.82824400G= | CA1721404394 | PCLO | c.14432C= (p.Ser4811=) n.927C= c.695C= (p.Ser232=) c.7337C= (p.Ser2446=) c.7310C= (p.Ser2437=) n.16001C= | |
| 7 | g.82824400G>T | CA368020536 | PCLO | c.14432C>A (p.Ser4811Tyr) n.927C>A c.695C>A (p.Ser232Tyr) c.7337C>A (p.Ser2446Tyr) c.7310C>A (p.Ser2437Tyr) n.16001C>A | gnomAD v4 |
| 7 | g.82824401A>C | CA368020537 | PCLO | c.14431T>G (p.Ser4811Ala) n.926T>G c.694T>G (p.Ser232Ala) c.7336T>G (p.Ser2446Ala) c.7309T>G (p.Ser2437Ala) n.16000T>G | gnomAD v4 |
| 7 | g.82824401A>G | CA368020538 | PCLO | c.14431T>C (p.Ser4811Pro) n.926T>C c.694T>C (p.Ser232Pro) c.7336T>C (p.Ser2446Pro) c.7309T>C (p.Ser2437Pro) n.16000T>C | |
| 7 | g.82824401A>T | CA368020539 | PCLO | c.14431T>A (p.Ser4811Thr) n.926T>A c.694T>A (p.Ser232Thr) c.7336T>A (p.Ser2446Thr) c.7309T>A (p.Ser2437Thr) n.16000T>A | |
| 7 | g.82824402T>A | CA368020540 | PCLO | c.14430A>T (p.Leu4810Phe) n.925A>T c.693A>T (p.Leu231Phe) c.7335A>T (p.Leu2445Phe) c.7308A>T (p.Leu2436Phe) n.15999A>T | gnomAD v4 |
| 7 | g.82824402T>C | CA456286646 | PCLO | c.14430A>G (p.Leu4810=) n.925A>G c.693A>G (p.Leu231=) c.7335A>G (p.Leu2445=) c.7308A>G (p.Leu2436=) n.15999A>G | gnomAD v4 |
| 7 | g.82824402T>G | CA368020541 | PCLO | c.14430A>C (p.Leu4810Phe) n.925A>C c.693A>C (p.Leu231Phe) c.7335A>C (p.Leu2445Phe) c.7308A>C (p.Leu2436Phe) n.15999A>C | |
| 7 | g.82824403A= | CA1721404395 | PCLO | c.14429T= (p.Leu4810=) n.924T= c.692T= (p.Leu231=) c.7334T= (p.Leu2445=) c.7307T= (p.Leu2436=) n.15998T= | |
| 7 | g.82824403A>C | CA368020542 | PCLO | c.14429T>G (p.Leu4810Ter) n.924T>G c.692T>G (p.Leu231Ter) c.7334T>G (p.Leu2445Ter) c.7307T>G (p.Leu2436Ter) n.15998T>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.82824403A>G | CA368020543 | PCLO | c.14429T>C (p.Leu4810Ser) n.924T>C c.692T>C (p.Leu231Ser) c.7334T>C (p.Leu2445Ser) c.7307T>C (p.Leu2436Ser) n.15998T>C | |
| 7 | g.82824403A>T | CA368020544 | PCLO | c.14429T>A (p.Leu4810Ter) n.924T>A c.692T>A (p.Leu231Ter) c.7334T>A (p.Leu2445Ter) c.7307T>A (p.Leu2436Ter) n.15998T>A | |
| 7 | g.82824405del | CA2683548867 | PCLO | c.14429del (p.Leu4810TyrfsTer?) n.924del c.692del (p.Leu231TyrfsTer?) c.7334del (p.Leu2445TyrfsTer?) c.7307del (p.Leu2436TyrfsTer?) n.15998del | gnomAD v4 |
| 7 | g.82824404A>C | CA368020545 | PCLO | c.14428T>G (p.Leu4810Val) n.923T>G c.691T>G (p.Leu231Val) c.7333T>G (p.Leu2445Val) c.7306T>G (p.Leu2436Val) n.15997T>G | |
| 7 | g.82824404A>G | CA456286647 | PCLO | c.14428T>C (p.Leu4810=) n.923T>C c.691T>C (p.Leu231=) c.7333T>C (p.Leu2445=) c.7306T>C (p.Leu2436=) n.15997T>C | gnomAD v4 |
| 7 | g.82824404A>T | CA368020546 | PCLO | c.14428T>A (p.Leu4810Ile) n.923T>A c.691T>A (p.Leu231Ile) c.7333T>A (p.Leu2445Ile) c.7306T>A (p.Leu2436Ile) n.15997T>A | gnomAD v4 |
| 7 | g.82824411_82824414del | CA2683548868 | PCLO | c.14425_14428del (p.Asp4809TyrfsTer?) n.920_923del c.688_691del (p.Asp230TyrfsTer?) c.7330_7333del (p.Asp2444TyrfsTer?) c.7303_7306del (p.Asp2435TyrfsTer?) n.15994_15997del | gnomAD v4 |
| 7 | g.82824405A= | CA1721404396 | PCLO | c.14427T= (p.Asp4809=) n.922T= c.690T= (p.Asp230=) c.7332T= (p.Asp2444=) c.7305T= (p.Asp2435=) n.15996T= | |
| 7 | g.82824405A>C | CA368020547 | PCLO | c.14427T>G (p.Asp4809Glu) n.922T>G c.690T>G (p.Asp230Glu) c.7332T>G (p.Asp2444Glu) c.7305T>G (p.Asp2435Glu) n.15996T>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.82824405A>G | CA456286648 | PCLO | c.14427T>C (p.Asp4809=) n.922T>C c.690T>C (p.Asp230=) c.7332T>C (p.Asp2444=) c.7305T>C (p.Asp2435=) n.15996T>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.82824405A>T | CA368020548 | PCLO | c.14427T>A (p.Asp4809Glu) n.922T>A c.690T>A (p.Asp230Glu) c.7332T>A (p.Asp2444Glu) c.7305T>A (p.Asp2435Glu) n.15996T>A | |
| 7 | g.82824406T>A | CA368020549 | PCLO | c.14426A>T (p.Asp4809Val) n.921A>T c.689A>T (p.Asp230Val) c.7331A>T (p.Asp2444Val) c.7304A>T (p.Asp2435Val) n.15995A>T | dbSNP gnomAD v4 |
| 7 | g.82824406T>C | CA368020550 | PCLO | c.14426A>G (p.Asp4809Gly) n.921A>G c.689A>G (p.Asp230Gly) c.7331A>G (p.Asp2444Gly) c.7304A>G (p.Asp2435Gly) n.15995A>G | |
| 7 | g.82824406T>G | CA368020551 | PCLO | c.14426A>C (p.Asp4809Ala) n.921A>C c.689A>C (p.Asp230Ala) c.7331A>C (p.Asp2444Ala) c.7304A>C (p.Asp2435Ala) n.15995A>C | |
| 7 | g.82824406T= | CA1721404397 | PCLO | c.14426A= (p.Asp4809=) n.921A= c.689A= (p.Asp230=) c.7331A= (p.Asp2444=) c.7304A= (p.Asp2435=) n.15995A= | |
| 7 | g.82824407C>A | CA368020552 | PCLO | c.14425G>T (p.Asp4809Tyr) n.920G>T c.688G>T (p.Asp230Tyr) c.7330G>T (p.Asp2444Tyr) c.7303G>T (p.Asp2435Tyr) n.15994G>T | gnomAD v4 |
| 7 | g.82824407C>G | CA368020553 | PCLO | c.14425G>C (p.Asp4809His) n.920G>C c.688G>C (p.Asp230His) c.7330G>C (p.Asp2444His) c.7303G>C (p.Asp2435His) n.15994G>C | |
| 7 | g.82824407C>T | CA368020554 | PCLO | c.14425G>A (p.Asp4809Asn) n.920G>A c.688G>A (p.Asp230Asn) c.7330G>A (p.Asp2444Asn) c.7303G>A (p.Asp2435Asn) n.15994G>A | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.82824408A>C | CA368020555 | PCLO | c.14424T>G (p.Ile4808Met) n.919T>G c.687T>G (p.Ile229Met) c.7329T>G (p.Ile2443Met) c.7302T>G (p.Ile2434Met) n.15993T>G | |
| 7 | g.82824408A>G | CA456286649 | PCLO | c.14424T>C (p.Ile4808=) n.919T>C c.687T>C (p.Ile229=) c.7329T>C (p.Ile2443=) c.7302T>C (p.Ile2434=) n.15993T>C | |
| 7 | g.82824408A>T | CA456286650 | PCLO | c.14424T>A (p.Ile4808=) n.919T>A c.687T>A (p.Ile229=) c.7329T>A (p.Ile2443=) c.7302T>A (p.Ile2434=) n.15993T>A |