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 |
|---|---|---|---|---|---|
| 1 | g.150733124T>A | CA342322463 | CTSS | c.918A>T (p.Glu306Asp) c.690A>T (p.Glu230Asp) c.*112A>T (n.*112A>T) c.815A>T (p.Lys272Met) c.645A>T (p.Glu215Asp) c.768A>T (p.Glu256Asp) c.*1A>T (n.*1A>T) c.*89A>T (n.*89A>T) c.741A>T (p.Glu247Asp) c.*268A>T (n.*268A>T) n.308A>T c.211A>T c.466A>T (n.466A>T) | |
| 1 | g.150733124T>C | CA420696584 | CTSS | c.918A>G (p.Glu306=) c.690A>G (p.Glu230=) c.*112A>G (n.*112A>G) c.815A>G (p.Lys272Arg) c.645A>G (p.Glu215=) c.768A>G (p.Glu256=) c.*1A>G (n.*1A>G) c.*89A>G (n.*89A>G) c.741A>G (p.Glu247=) c.*268A>G (n.*268A>G) n.308A>G c.211A>G c.466A>G (n.466A>G) | |
| 1 | g.150733124T>G | CA342322464 | CTSS | c.918A>C (p.Glu306Asp) c.690A>C (p.Glu230Asp) c.*112A>C (n.*112A>C) c.815A>C (p.Lys272Thr) c.645A>C (p.Glu215Asp) c.768A>C (p.Glu256Asp) c.*1A>C (n.*1A>C) c.*89A>C (n.*89A>C) c.741A>C (p.Glu247Asp) c.*268A>C (n.*268A>C) n.308A>C c.211A>C c.466A>C (n.466A>C) | |
| 1 | g.150733125T>A | CA342322465 | CTSS | c.917A>T (p.Glu306Val) c.689A>T (p.Glu230Val) c.*111A>T (n.*111A>T) c.814A>T (p.Lys272Ter) c.644A>T (p.Glu215Val) c.767A>T (p.Glu256Val) c.648A>T (p.Ter216Cys) c.*88A>T (n.*88A>T) c.740A>T (p.Glu247Val) c.*267A>T (n.*267A>T) n.307A>T c.210A>T c.465A>T (n.465A>T) | |
| 1 | g.150733125T>C | CA342322467 | CTSS | c.917A>G (p.Glu306Gly) c.689A>G (p.Glu230Gly) c.*111A>G (n.*111A>G) c.814A>G (p.Lys272Glu) c.644A>G (p.Glu215Gly) c.767A>G (p.Glu256Gly) c.648A>G (p.Ter216Trp) c.*88A>G (n.*88A>G) c.740A>G (p.Glu247Gly) c.*267A>G (n.*267A>G) n.307A>G c.210A>G c.465A>G (n.465A>G) | |
| 1 | g.150733125T>G | CA342322466 | CTSS | c.917A>C (p.Glu306Ala) c.689A>C (p.Glu230Ala) c.*111A>C (n.*111A>C) c.814A>C (p.Lys272Gln) c.644A>C (p.Glu215Ala) c.767A>C (p.Glu256Ala) c.648A>C (p.Ter216Cys) c.*88A>C (n.*88A>C) c.740A>C (p.Glu247Ala) c.*267A>C (n.*267A>C) n.307A>C c.210A>C c.465A>C (n.465A>C) | gnomAD v4 |
| 1 | g.150733126C>A | CA342322468 | CTSS | c.916G>T (p.Glu306Ter) c.688G>T (p.Glu230Ter) c.*110G>T (n.*110G>T) c.813G>T (p.Val271=) c.643G>T (p.Glu215Ter) c.766G>T (p.Glu256Ter) c.647G>T (p.Ter216Leu) c.*87G>T (n.*87G>T) c.739G>T (p.Glu247Ter) c.*266G>T (n.*266G>T) n.306G>T c.209G>T c.464G>T (n.464G>T) | |
| 1 | g.150733126C= | CA2479286204 | CTSS | c.916G= (p.Glu306=) c.688G= (p.Glu230=) c.*110G= (n.*110G=) c.813G= (p.Val271=) c.643G= (p.Glu215=) c.766G= (p.Glu256=) c.647G= (p.Ter216=) c.*87G= (n.*87G=) c.739G= (p.Glu247=) c.*266G= (n.*266G=) n.306G= c.209G= c.464G= (n.464G=) | |
| 1 | g.150733126C>G | CA342322469 | CTSS | c.916G>C (p.Glu306Gln) c.688G>C (p.Glu230Gln) c.*110G>C (n.*110G>C) c.813G>C (p.Val271=) c.643G>C (p.Glu215Gln) c.766G>C (p.Glu256Gln) c.647G>C (p.Ter216Ser) c.*87G>C (n.*87G>C) c.739G>C (p.Glu247Gln) c.*266G>C (n.*266G>C) n.306G>C c.209G>C c.464G>C (n.464G>C) | |
| 1 | g.150733126C>T | CA342322470 | CTSS | c.916G>A (p.Glu306Lys) c.688G>A (p.Glu230Lys) c.*110G>A (n.*110G>A) c.813G>A (p.Val271=) c.643G>A (p.Glu215Lys) c.766G>A (p.Glu256Lys) c.647G>A (p.Ter216=) c.*87G>A (n.*87G>A) c.739G>A (p.Glu247Lys) c.*266G>A (n.*266G>A) n.306G>A c.209G>A c.464G>A (n.464G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150733127A>C | CA420696585 | CTSS | c.915T>G (p.Gly305=) c.687T>G (p.Gly229=) c.*109T>G (n.*109T>G) c.812T>G (p.Val271Gly) c.642T>G (p.Gly214=) c.765T>G (p.Gly255=) c.646T>G (p.Ter216Gly) c.*86T>G (n.*86T>G) c.738T>G (p.Gly246=) c.*265T>G (n.*265T>G) n.305T>G c.208T>G c.463T>G (n.463T>G) | |
| 1 | g.150733127A>G | CA420696586 | CTSS | c.915T>C (p.Gly305=) c.687T>C (p.Gly229=) c.*109T>C (n.*109T>C) c.812T>C (p.Val271Ala) c.642T>C (p.Gly214=) c.765T>C (p.Gly255=) c.646T>C (p.Ter216Arg) c.*86T>C (n.*86T>C) c.738T>C (p.Gly246=) c.*265T>C (n.*265T>C) n.305T>C c.208T>C c.463T>C (n.463T>C) | |
| 1 | g.150733127A>T | CA420696587 | CTSS | c.915T>A (p.Gly305=) c.687T>A (p.Gly229=) c.*109T>A (n.*109T>A) c.812T>A (p.Val271Glu) c.642T>A (p.Gly214=) c.765T>A (p.Gly255=) c.646T>A (p.Ter216Arg) c.*86T>A (n.*86T>A) c.738T>A (p.Gly246=) c.*265T>A (n.*265T>A) n.305T>A c.208T>A c.463T>A (n.463T>A) | |
| 1 | g.150733128C>A | CA342322471 | CTSS | c.914G>T (p.Gly305Val) c.686G>T (p.Gly229Val) c.*108G>T (n.*108G>T) c.811G>T (p.Val271Leu) c.641G>T (p.Gly214Val) c.764G>T (p.Gly255Val) c.645G>T (p.Trp215Cys) c.*85G>T (n.*85G>T) c.737G>T (p.Gly246Val) c.*264G>T (n.*264G>T) n.304G>T c.207G>T c.462G>T (n.462G>T) | |
| 1 | g.150733128C>G | CA342322472 | CTSS | c.914G>C (p.Gly305Ala) c.686G>C (p.Gly229Ala) c.*108G>C (n.*108G>C) c.811G>C (p.Val271Leu) c.641G>C (p.Gly214Ala) c.764G>C (p.Gly255Ala) c.645G>C (p.Trp215Cys) c.*85G>C (n.*85G>C) c.737G>C (p.Gly246Ala) c.*264G>C (n.*264G>C) n.304G>C c.207G>C c.462G>C (n.462G>C) | |
| 1 | g.150733128C>T | CA342322473 | CTSS | c.914G>A (p.Gly305Asp) c.686G>A (p.Gly229Asp) c.*108G>A (n.*108G>A) c.811G>A (p.Val271Met) c.641G>A (p.Gly214Asp) c.764G>A (p.Gly255Asp) c.645G>A (p.Trp215Ter) c.*85G>A (n.*85G>A) c.737G>A (p.Gly246Asp) c.*264G>A (n.*264G>A) n.304G>A c.207G>A c.462G>A (n.462G>A) | |
| 1 | g.150733129C>A | CA342322474 | CTSS | c.913G>T (p.Gly305Cys) c.685G>T (p.Gly229Cys) c.*107G>T (n.*107G>T) c.810G>T (p.Leu270Phe) c.640G>T (p.Gly214Cys) c.763G>T (p.Gly255Cys) c.644G>T (p.Trp215Leu) c.*84G>T (n.*84G>T) c.736G>T (p.Gly246Cys) c.*263G>T (n.*263G>T) n.303G>T c.206G>T c.461G>T (n.461G>T) | |
| 1 | g.150733129C>G | CA342322475 | CTSS | c.913G>C (p.Gly305Arg) c.685G>C (p.Gly229Arg) c.*107G>C (n.*107G>C) c.810G>C (p.Leu270Phe) c.640G>C (p.Gly214Arg) c.763G>C (p.Gly255Arg) c.644G>C (p.Trp215Ser) c.*84G>C (n.*84G>C) c.736G>C (p.Gly246Arg) c.*263G>C (n.*263G>C) n.303G>C c.206G>C c.461G>C (n.461G>C) | |
| 1 | g.150733129C>T | CA342322476 | CTSS | c.913G>A (p.Gly305Ser) c.685G>A (p.Gly229Ser) c.*107G>A (n.*107G>A) c.810G>A (p.Leu270=) c.640G>A (p.Gly214Ser) c.763G>A (p.Gly255Ser) c.644G>A (p.Trp215Ter) c.*84G>A (n.*84G>A) c.736G>A (p.Gly246Ser) c.*263G>A (n.*263G>A) n.303G>A c.206G>A c.461G>A (n.461G>A) | |
| 1 | g.150733130A= | CA1143464346 | CTSS | c.912T= (p.Phe304=) c.684T= (p.Phe228=) c.*106T= (n.*106T=) c.809T= (p.Leu270=) c.639T= (p.Phe213=) c.762T= (p.Phe254=) c.643T= (p.Trp215=) c.*83T= (n.*83T=) c.735T= (p.Phe245=) c.*262T= (n.*262T=) n.302T= c.205T= c.460T= (n.460T=) | |
| 1 | g.150733130A>C | CA342322478 | CTSS | c.912T>G (p.Phe304Leu) c.684T>G (p.Phe228Leu) c.*106T>G (n.*106T>G) c.809T>G (p.Leu270Trp) c.639T>G (p.Phe213Leu) c.762T>G (p.Phe254Leu) c.643T>G (p.Trp215Gly) c.*83T>G (n.*83T>G) c.735T>G (p.Phe245Leu) c.*262T>G (n.*262T>G) n.302T>G c.205T>G c.460T>G (n.460T>G) | |
| 1 | g.150733130A>G | CA30095088 | CTSS | c.912T>C (p.Phe304=) c.684T>C (p.Phe228=) c.*106T>C (n.*106T>C) c.809T>C (p.Leu270Ser) c.639T>C (p.Phe213=) c.762T>C (p.Phe254=) c.643T>C (p.Trp215Arg) c.*83T>C (n.*83T>C) c.735T>C (p.Phe245=) c.*262T>C (n.*262T>C) n.302T>C c.205T>C c.460T>C (n.460T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150733130A>T | CA342322477 | CTSS | c.912T>A (p.Phe304Leu) c.684T>A (p.Phe228Leu) c.*106T>A (n.*106T>A) c.809T>A (p.Leu270Ter) c.639T>A (p.Phe213Leu) c.762T>A (p.Phe254Leu) c.643T>A (p.Trp215Arg) c.*83T>A (n.*83T>A) c.735T>A (p.Phe245Leu) c.*262T>A (n.*262T>A) n.302T>A c.205T>A c.460T>A (n.460T>A) | |
| 1 | g.150733131A>C | CA342322479 | CTSS | c.911T>G (p.Phe304Cys) c.683T>G (p.Phe228Cys) c.*105T>G (n.*105T>G) c.808T>G (p.Leu270Val) c.638T>G (p.Phe213Cys) c.761T>G (p.Phe254Cys) c.642T>G (p.Leu214=) c.*82T>G (n.*82T>G) c.734T>G (p.Phe245Cys) c.*261T>G (n.*261T>G) n.301T>G c.204T>G c.459T>G (n.459T>G) | |
| 1 | g.150733131A>G | CA342322480 | CTSS | c.911T>C (p.Phe304Ser) c.683T>C (p.Phe228Ser) c.*105T>C (n.*105T>C) c.808T>C (p.Leu270=) c.638T>C (p.Phe213Ser) c.761T>C (p.Phe254Ser) c.642T>C (p.Leu214=) c.*82T>C (n.*82T>C) c.734T>C (p.Phe245Ser) c.*261T>C (n.*261T>C) n.301T>C c.204T>C c.459T>C (n.459T>C) | |
| 1 | g.150733131A>T | CA342322481 | CTSS | c.911T>A (p.Phe304Tyr) c.683T>A (p.Phe228Tyr) c.*105T>A (n.*105T>A) c.808T>A (p.Leu270Met) c.638T>A (p.Phe213Tyr) c.761T>A (p.Phe254Tyr) c.642T>A (p.Leu214=) c.*82T>A (n.*82T>A) c.734T>A (p.Phe245Tyr) c.*261T>A (n.*261T>A) n.301T>A c.204T>A c.459T>A (n.459T>A) | |
| 1 | g.150733132A>C | CA342322482 | CTSS | c.910T>G (p.Phe304Val) c.682T>G (p.Phe228Val) c.*104T>G (n.*104T>G) c.807T>G (p.Thr269=) c.637T>G (p.Phe213Val) c.760T>G (p.Phe254Val) c.641T>G (p.Leu214Arg) c.*81T>G (n.*81T>G) c.733T>G (p.Phe245Val) c.*260T>G (n.*260T>G) n.300T>G c.203T>G c.458T>G (n.458T>G) | |
| 1 | g.150733132A>G | CA342322483 | CTSS | c.910T>C (p.Phe304Leu) c.682T>C (p.Phe228Leu) c.*104T>C (n.*104T>C) c.807T>C (p.Thr269=) c.637T>C (p.Phe213Leu) c.760T>C (p.Phe254Leu) c.641T>C (p.Leu214Pro) c.*81T>C (n.*81T>C) c.733T>C (p.Phe245Leu) c.*260T>C (n.*260T>C) n.300T>C c.203T>C c.458T>C (n.458T>C) | gnomAD v4 |
| 1 | g.150733132A>T | CA342322484 | CTSS | c.910T>A (p.Phe304Ile) c.682T>A (p.Phe228Ile) c.*104T>A (n.*104T>A) c.807T>A (p.Thr269=) c.637T>A (p.Phe213Ile) c.760T>A (p.Phe254Ile) c.641T>A (p.Leu214His) c.*81T>A (n.*81T>A) c.733T>A (p.Phe245Ile) c.*260T>A (n.*260T>A) n.300T>A c.203T>A c.458T>A (n.458T>A) | |
| 1 | g.150733133G>A | CA1080163 | CTSS | c.909C>T (p.Asn303=) c.681C>T (p.Asn227=) c.*103C>T (n.*103C>T) c.806C>T (p.Thr269Ile) c.636C>T (p.Asn212=) c.759C>T (p.Asn253=) c.640C>T (p.Leu214Phe) c.*80C>T (n.*80C>T) c.732C>T (p.Asn244=) c.*259C>T (n.*259C>T) n.299C>T c.202C>T c.457C>T (n.457C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.150733133G>C | CA342322485 | CTSS | c.909C>G (p.Asn303Lys) c.681C>G (p.Asn227Lys) c.*103C>G (n.*103C>G) c.806C>G (p.Thr269Ser) c.636C>G (p.Asn212Lys) c.759C>G (p.Asn253Lys) c.640C>G (p.Leu214Val) c.*80C>G (n.*80C>G) c.732C>G (p.Asn244Lys) c.*259C>G (n.*259C>G) n.299C>G c.202C>G c.457C>G (n.457C>G) | |
| 1 | g.150733133G= | CA2479286205 | CTSS | c.909C= (p.Asn303=) c.681C= (p.Asn227=) c.*103C= (n.*103C=) c.806C= (p.Thr269=) c.636C= (p.Asn212=) c.759C= (p.Asn253=) c.640C= (p.Leu214=) c.*80C= (n.*80C=) c.732C= (p.Asn244=) c.*259C= (n.*259C=) n.299C= c.202C= c.457C= (n.457C=) | |
| 1 | g.150733133G>T | CA342322486 | CTSS | c.909C>A (p.Asn303Lys) c.681C>A (p.Asn227Lys) c.*103C>A (n.*103C>A) c.806C>A (p.Thr269Asn) c.636C>A (p.Asn212Lys) c.759C>A (p.Asn253Lys) c.640C>A (p.Leu214Ile) c.*80C>A (n.*80C>A) c.732C>A (p.Asn244Lys) c.*259C>A (n.*259C>A) n.299C>A c.202C>A c.457C>A (n.457C>A) | |
| 1 | g.150733134T>A | CA342322487 | CTSS | c.908A>T (p.Asn303Ile) c.680A>T (p.Asn227Ile) c.*102A>T (n.*102A>T) c.805A>T (p.Thr269Ser) c.635A>T (p.Asn212Ile) c.758A>T (p.Asn253Ile) c.639A>T (p.Gln213His) c.*79A>T (n.*79A>T) c.731A>T (p.Asn244Ile) c.*258A>T (n.*258A>T) n.298A>T c.201A>T c.456A>T (n.456A>T) | |
| 1 | g.150733134T>C | CA342322488 | CTSS | c.908A>G (p.Asn303Ser) c.680A>G (p.Asn227Ser) c.*102A>G (n.*102A>G) c.805A>G (p.Thr269Ala) c.635A>G (p.Asn212Ser) c.758A>G (p.Asn253Ser) c.639A>G (p.Gln213=) c.*79A>G (n.*79A>G) c.731A>G (p.Asn244Ser) c.*258A>G (n.*258A>G) n.298A>G c.201A>G c.456A>G (n.456A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150733134T>G | CA1080164 | CTSS | c.908A>C (p.Asn303Thr) c.680A>C (p.Asn227Thr) c.*102A>C (n.*102A>C) c.805A>C (p.Thr269Pro) c.635A>C (p.Asn212Thr) c.758A>C (p.Asn253Thr) c.639A>C (p.Gln213His) c.*79A>C (n.*79A>C) c.731A>C (p.Asn244Thr) c.*258A>C (n.*258A>C) n.298A>C c.201A>C c.456A>C (n.456A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150733134T= | CA2479286206 | CTSS | c.908A= (p.Asn303=) c.680A= (p.Asn227=) c.*102A= (n.*102A=) c.805A= (p.Thr269=) c.635A= (p.Asn212=) c.758A= (p.Asn253=) c.639A= (p.Gln213=) c.*79A= (n.*79A=) c.731A= (p.Asn244=) c.*258A= (n.*258A=) n.298A= c.201A= c.456A= (n.456A=) | |
| 1 | g.150733135T>A | CA342322491 | CTSS | c.907A>T (p.Asn303Tyr) c.679A>T (p.Asn227Tyr) c.*101A>T (n.*101A>T) c.804A>T (p.Thr268=) c.634A>T (p.Asn212Tyr) c.757A>T (p.Asn253Tyr) c.638A>T (p.Gln213Leu) c.*78A>T (n.*78A>T) c.730A>T (p.Asn244Tyr) c.*257A>T (n.*257A>T) n.297A>T c.200A>T c.455A>T (n.455A>T) | |
| 1 | g.150733135T>C | CA342322489 | CTSS | c.907A>G (p.Asn303Asp) c.679A>G (p.Asn227Asp) c.*101A>G (n.*101A>G) c.804A>G (p.Thr268=) c.634A>G (p.Asn212Asp) c.757A>G (p.Asn253Asp) c.638A>G (p.Gln213Arg) c.*78A>G (n.*78A>G) c.730A>G (p.Asn244Asp) c.*257A>G (n.*257A>G) n.297A>G c.200A>G c.455A>G (n.455A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150733135T>G | CA342322490 | CTSS | c.907A>C (p.Asn303His) c.679A>C (p.Asn227His) c.*101A>C (n.*101A>C) c.804A>C (p.Thr268=) c.634A>C (p.Asn212His) c.757A>C (p.Asn253His) c.638A>C (p.Gln213Pro) c.*78A>C (n.*78A>C) c.730A>C (p.Asn244His) c.*257A>C (n.*257A>C) n.297A>C c.200A>C c.455A>C (n.455A>C) | |
| 1 | g.150733135T= | CA2479286207 | CTSS | c.907A= (p.Asn303=) c.679A= (p.Asn227=) c.*101A= (n.*101A=) c.804A= (p.Thr268=) c.634A= (p.Asn212=) c.757A= (p.Asn253=) c.638A= (p.Gln213=) c.*78A= (n.*78A=) c.730A= (p.Asn244=) c.*257A= (n.*257A=) n.297A= c.200A= c.455A= (n.455A=) | |
| 1 | g.150733136G>A | CA420696588 | CTSS | c.906C>T (p.His302=) c.678C>T (p.His226=) c.*100C>T (n.*100C>T) c.803C>T (p.Thr268Ile) c.633C>T (p.His211=) c.756C>T (p.His252=) c.637C>T (p.Gln213Ter) c.*77C>T (n.*77C>T) c.729C>T (p.His243=) c.*256C>T (n.*256C>T) n.296C>T c.199C>T c.454C>T (n.454C>T) | gnomAD v4 |
| 1 | g.150733136G>C | CA342322492 | CTSS | c.906C>G (p.His302Gln) c.678C>G (p.His226Gln) c.*100C>G (n.*100C>G) c.803C>G (p.Thr268Arg) c.633C>G (p.His211Gln) c.756C>G (p.His252Gln) c.637C>G (p.Gln213Glu) c.*77C>G (n.*77C>G) c.729C>G (p.His243Gln) c.*256C>G (n.*256C>G) n.296C>G c.199C>G c.454C>G (n.454C>G) | |
| 1 | g.150733136G>T | CA342322493 | CTSS | c.906C>A (p.His302Gln) c.678C>A (p.His226Gln) c.*100C>A (n.*100C>A) c.803C>A (p.Thr268Lys) c.633C>A (p.His211Gln) c.756C>A (p.His252Gln) c.637C>A (p.Gln213Lys) c.*77C>A (n.*77C>A) c.729C>A (p.His243Gln) c.*256C>A (n.*256C>A) n.296C>A c.199C>A c.454C>A (n.454C>A) | |
| 1 | g.150733137T>A | CA342322494 | CTSS | c.905A>T (p.His302Leu) c.677A>T (p.His226Leu) c.*99A>T (n.*99A>T) c.802A>T (p.Thr268Ser) c.632A>T (p.His211Leu) c.755A>T (p.His252Leu) c.636A>T (p.Pro212=) c.*76A>T (n.*76A>T) c.728A>T (p.His243Leu) c.*255A>T (n.*255A>T) n.295A>T c.198A>T c.453A>T (n.453A>T) | |
| 1 | g.150733137T>C | CA342322495 | CTSS | c.905A>G (p.His302Arg) c.677A>G (p.His226Arg) c.*99A>G (n.*99A>G) c.802A>G (p.Thr268Ala) c.632A>G (p.His211Arg) c.755A>G (p.His252Arg) c.636A>G (p.Pro212=) c.*76A>G (n.*76A>G) c.728A>G (p.His243Arg) c.*255A>G (n.*255A>G) n.295A>G c.198A>G c.453A>G (n.453A>G) | |
| 1 | g.150733137T>G | CA342322496 | CTSS | c.905A>C (p.His302Pro) c.677A>C (p.His226Pro) c.*99A>C (n.*99A>C) c.802A>C (p.Thr268Pro) c.632A>C (p.His211Pro) c.755A>C (p.His252Pro) c.636A>C (p.Pro212=) c.*76A>C (n.*76A>C) c.728A>C (p.His243Pro) c.*255A>C (n.*255A>C) n.295A>C c.198A>C c.453A>C (n.453A>C) | gnomAD v4 |
| 1 | g.150733138G>A | CA342322497 | CTSS | c.904C>T (p.His302Tyr) c.676C>T (p.His226Tyr) c.*98C>T (n.*98C>T) c.801C>T (p.Ala267=) c.631C>T (p.His211Tyr) c.754C>T (p.His252Tyr) c.635C>T (p.Pro212Leu) c.*75C>T (n.*75C>T) c.727C>T (p.His243Tyr) c.*254C>T (n.*254C>T) n.294C>T c.197C>T c.452C>T (n.452C>T) | |
| 1 | g.150733138G>C | CA342322498 | CTSS | c.904C>G (p.His302Asp) c.676C>G (p.His226Asp) c.*98C>G (n.*98C>G) c.801C>G (p.Ala267=) c.631C>G (p.His211Asp) c.754C>G (p.His252Asp) c.635C>G (p.Pro212Arg) c.*75C>G (n.*75C>G) c.727C>G (p.His243Asp) c.*254C>G (n.*254C>G) n.294C>G c.197C>G c.452C>G (n.452C>G) | |
| 1 | g.150733138G>T | CA342322499 | CTSS | c.904C>A (p.His302Asn) c.676C>A (p.His226Asn) c.*98C>A (n.*98C>A) c.801C>A (p.Ala267=) c.631C>A (p.His211Asn) c.754C>A (p.His252Asn) c.635C>A (p.Pro212Gln) c.*75C>A (n.*75C>A) c.727C>A (p.His243Asn) c.*254C>A (n.*254C>A) n.294C>A c.197C>A c.452C>A (n.452C>A) |