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 |
|---|---|---|---|---|---|
| 3 | g.93900837A>C | CA353673138 | PROS1 | c.694T>G (p.Tyr232Asp) c.649T>G (p.Tyr217Asp) n.862T>G c.652T>G (p.Tyr218Asp) c.793T>G (n.793T>G) c.790T>G (p.Tyr264Asp) c.301T>G (p.Tyr101Asp) | |
| 3 | g.93900837A>G | CA353673139 | PROS1 | c.694T>C (p.Tyr232His) c.649T>C (p.Tyr217His) n.862T>C c.652T>C (p.Tyr218His) c.793T>C (n.793T>C) c.790T>C (p.Tyr264His) c.301T>C (p.Tyr101His) | gnomAD v4 |
| 3 | g.93900837A>T | CA353673137 | PROS1 | c.694T>A (p.Tyr232Asn) c.649T>A (p.Tyr217Asn) n.862T>A c.652T>A (p.Tyr218Asn) c.793T>A (n.793T>A) c.790T>A (p.Tyr264Asn) c.301T>A (p.Tyr101Asn) | |
| 3 | g.93900838G>A | CA434461655 | PROS1 | c.693C>T (p.Gly231=) c.648C>T (p.Gly216=) n.861C>T c.651C>T (p.Gly217=) c.792C>T (n.792C>T) c.789C>T (p.Gly263=) c.300C>T (p.Gly100=) | |
| 3 | g.93900838G>C | CA434461656 | PROS1 | c.693C>G (p.Gly231=) c.648C>G (p.Gly216=) n.861C>G c.651C>G (p.Gly217=) c.792C>G (n.792C>G) c.789C>G (p.Gly263=) c.300C>G (p.Gly100=) | |
| 3 | g.93900838G>T | CA434461657 | PROS1 | c.693C>A (p.Gly231=) c.648C>A (p.Gly216=) n.861C>A c.651C>A (p.Gly217=) c.792C>A (n.792C>A) c.789C>A (p.Gly263=) c.300C>A (p.Gly100=) | |
| 3 | g.93900839C>A | CA353673140 | PROS1 | c.692G>T (p.Gly231Val) c.647G>T (p.Gly216Val) n.860G>T c.650G>T (p.Gly217Val) c.791G>T (n.791G>T) c.788G>T (p.Gly263Val) c.299G>T (p.Gly100Val) | |
| 3 | g.93900839C= | CA1385040193 | PROS1 | c.692G= (p.Gly231=) c.647G= (p.Gly216=) n.860G= c.650G= (p.Gly217=) c.791G= (n.791G=) c.788G= (p.Gly263=) c.299G= (p.Gly100=) | |
| 3 | g.93900839C>G | CA353673141 | PROS1 | c.692G>C (p.Gly231Ala) c.647G>C (p.Gly216Ala) n.860G>C c.650G>C (p.Gly217Ala) c.791G>C (n.791G>C) c.788G>C (p.Gly263Ala) c.299G>C (p.Gly100Ala) | |
| 3 | g.93900839C>T | CA353673142 | PROS1 | c.692G>A (p.Gly231Asp) c.647G>A (p.Gly216Asp) n.860G>A c.650G>A (p.Gly217Asp) c.791G>A (n.791G>A) c.788G>A (p.Gly263Asp) c.299G>A (p.Gly100Asp) | dbSNP gnomAD v4 |
| 3 | g.93900840C>A | CA353673143 | PROS1 | c.691G>T (p.Gly231Cys) c.646G>T (p.Gly216Cys) n.859G>T c.649G>T (p.Gly217Cys) c.790G>T (n.790G>T) c.787G>T (p.Gly263Cys) c.298G>T (p.Gly100Cys) | |
| 3 | g.93900840C= | CA1385040194 | PROS1 | c.691G= (p.Gly231=) c.646G= (p.Gly216=) n.859G= c.649G= (p.Gly217=) c.790G= (n.790G=) c.787G= (p.Gly263=) c.298G= (p.Gly100=) | |
| 3 | g.93900840C>G | CA353673144 | PROS1 | c.691G>C (p.Gly231Arg) c.646G>C (p.Gly216Arg) n.859G>C c.649G>C (p.Gly217Arg) c.790G>C (n.790G>C) c.787G>C (p.Gly263Arg) c.298G>C (p.Gly100Arg) | |
| 3 | g.93900840C>T | CA2503409 | PROS1 | c.691G>A (p.Gly231Ser) c.646G>A (p.Gly216Ser) n.859G>A c.649G>A (p.Gly217Ser) c.790G>A (n.790G>A) c.787G>A (p.Gly263Ser) c.298G>A (p.Gly100Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93900841T>A | CA353673145 | PROS1 | c.690A>T (p.Glu230Asp) c.645A>T (p.Glu215Asp) n.858A>T c.648A>T (p.Glu216Asp) c.789A>T (n.789A>T) c.786A>T (p.Glu262Asp) c.297A>T (p.Glu99Asp) | |
| 3 | g.93900841T>C | CA434461658 | PROS1 | c.690A>G (p.Glu230=) c.645A>G (p.Glu215=) n.858A>G c.648A>G (p.Glu216=) c.789A>G (n.789A>G) c.786A>G (p.Glu262=) c.297A>G (p.Glu99=) | |
| 3 | g.93900841T>G | CA353673146 | PROS1 | c.690A>C (p.Glu230Asp) c.645A>C (p.Glu215Asp) n.858A>C c.648A>C (p.Glu216Asp) c.789A>C (n.789A>C) c.786A>C (p.Glu262Asp) c.297A>C (p.Glu99Asp) | |
| 3 | g.93900842T>A | CA353673147 | PROS1 | c.689A>T (p.Glu230Val) c.644A>T (p.Glu215Val) n.857A>T c.647A>T (p.Glu216Val) c.788A>T (n.788A>T) c.785A>T (p.Glu262Val) c.296A>T (p.Glu99Val) | |
| 3 | g.93900842T>C | CA353673148 | PROS1 | c.689A>G (p.Glu230Gly) c.644A>G (p.Glu215Gly) n.857A>G c.647A>G (p.Glu216Gly) c.788A>G (n.788A>G) c.785A>G (p.Glu262Gly) c.296A>G (p.Glu99Gly) | |
| 3 | g.93900842T>G | CA353673149 | PROS1 | c.689A>C (p.Glu230Ala) c.644A>C (p.Glu215Ala) n.857A>C c.647A>C (p.Glu216Ala) c.788A>C (n.788A>C) c.785A>C (p.Glu262Ala) c.296A>C (p.Glu99Ala) | |
| 3 | g.93900843C>A | CA353673150 | PROS1 | c.688G>T (p.Glu230Ter) c.643G>T (p.Glu215Ter) n.856G>T c.646G>T (p.Glu216Ter) c.787G>T (n.787G>T) c.784G>T (p.Glu262Ter) c.295G>T (p.Glu99Ter) | |
| 3 | g.93900843C= | CA1385040195 | PROS1 | c.688G= (p.Glu230=) c.643G= (p.Glu215=) n.856G= c.646G= (p.Glu216=) c.787G= (n.787G=) c.784G= (p.Glu262=) c.295G= (p.Glu99=) | |
| 3 | g.93900843C>G | CA353673151 | PROS1 | c.688G>C (p.Glu230Gln) c.643G>C (p.Glu215Gln) n.856G>C c.646G>C (p.Glu216Gln) c.787G>C (n.787G>C) c.784G>C (p.Glu262Gln) c.295G>C (p.Glu99Gln) | |
| 3 | g.93900843C>T | CA2503410 | PROS1 | c.688G>A (p.Glu230Lys) c.643G>A (p.Glu215Lys) n.856G>A c.646G>A (p.Glu216Lys) c.787G>A (n.787G>A) c.784G>A (p.Glu262Lys) c.295G>A (p.Glu99Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.93900844G>A | CA2503411 | PROS1 | c.687C>T (p.Pro229=) c.642C>T (p.Pro214=) n.855C>T c.645C>T (p.Pro215=) c.786C>T (n.786C>T) c.783C>T (p.Pro261=) c.294C>T (p.Pro98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93900844G>C | CA2503412 | PROS1 | c.687C>G (p.Pro229=) c.642C>G (p.Pro214=) n.855C>G c.645C>G (p.Pro215=) c.786C>G (n.786C>G) c.783C>G (p.Pro261=) c.294C>G (p.Pro98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93900844G= | CA1385040196 | PROS1 | c.687C= (p.Pro229=) c.642C= (p.Pro214=) n.855C= c.645C= (p.Pro215=) c.786C= (n.786C=) c.783C= (p.Pro261=) c.294C= (p.Pro98=) | |
| 3 | g.93900844G>T | CA434461659 | PROS1 | c.687C>A (p.Pro229=) c.642C>A (p.Pro214=) n.855C>A c.645C>A (p.Pro215=) c.786C>A (n.786C>A) c.783C>A (p.Pro261=) c.294C>A (p.Pro98=) | |
| 3 | g.93900845G>A | CA353673152 | PROS1 | c.686C>T (p.Pro229Leu) c.641C>T (p.Pro214Leu) n.854C>T c.644C>T (p.Pro215Leu) c.785C>T (n.785C>T) c.782C>T (p.Pro261Leu) c.293C>T (p.Pro98Leu) | |
| 3 | g.93900845G>C | CA353673153 | PROS1 | c.686C>G (p.Pro229Arg) c.641C>G (p.Pro214Arg) n.854C>G c.644C>G (p.Pro215Arg) c.785C>G (n.785C>G) c.782C>G (p.Pro261Arg) c.293C>G (p.Pro98Arg) | |
| 3 | g.93900845G>T | CA353673154 | PROS1 | c.686C>A (p.Pro229His) c.641C>A (p.Pro214His) n.854C>A c.644C>A (p.Pro215His) c.785C>A (n.785C>A) c.782C>A (p.Pro261His) c.293C>A (p.Pro98His) | |
| 3 | g.93900846G>A | CA353673155 | PROS1 | c.685C>T (p.Pro229Ser) c.640C>T (p.Pro214Ser) n.853C>T c.643C>T (p.Pro215Ser) c.784C>T (n.784C>T) c.781C>T (p.Pro261Ser) c.292C>T (p.Pro98Ser) | |
| 3 | g.93900846G>C | CA353673156 | PROS1 | c.685C>G (p.Pro229Ala) c.640C>G (p.Pro214Ala) n.853C>G c.643C>G (p.Pro215Ala) c.784C>G (n.784C>G) c.781C>G (p.Pro261Ala) c.292C>G (p.Pro98Ala) | |
| 3 | g.93900846G>T | CA353673157 | PROS1 | c.685C>A (p.Pro229Thr) c.640C>A (p.Pro214Thr) n.853C>A c.643C>A (p.Pro215Thr) c.784C>A (n.784C>A) c.781C>A (p.Pro261Thr) c.292C>A (p.Pro98Thr) | |
| 3 | g.93900847G>A | CA2503413 | PROS1 | c.684C>T (p.Cys228=) c.639C>T (p.Cys213=) n.852C>T c.642C>T (p.Cys214=) c.783C>T (n.783C>T) c.780C>T (p.Cys260=) c.291C>T (p.Cys97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93900847G>C | CA353673158 | PROS1 | c.684C>G (p.Cys228Trp) c.639C>G (p.Cys213Trp) n.852C>G c.642C>G (p.Cys214Trp) c.783C>G (n.783C>G) c.780C>G (p.Cys260Trp) c.291C>G (p.Cys97Trp) | ClinVar gnomAD v4 |
| 3 | g.93900847G= | CA1385040197 | PROS1 | c.684C= (p.Cys228=) c.639C= (p.Cys213=) n.852C= c.642C= (p.Cys214=) c.783C= (n.783C=) c.780C= (p.Cys260=) c.291C= (p.Cys97=) | |
| 3 | g.93900847G>T | CA353673159 | PROS1 | c.684C>A (p.Cys228Ter) c.639C>A (p.Cys213Ter) n.852C>A c.642C>A (p.Cys214Ter) c.783C>A (n.783C>A) c.780C>A (p.Cys260Ter) c.291C>A (p.Cys97Ter) | ClinVar dbSNP |
| 3 | g.93900848C>A | CA353673160 | PROS1 | c.683G>T (p.Cys228Phe) c.638G>T (p.Cys213Phe) n.851G>T c.641G>T (p.Cys214Phe) c.782G>T (n.782G>T) c.779G>T (p.Cys260Phe) c.290G>T (p.Cys97Phe) | gnomAD v4 |
| 3 | g.93900848C>G | CA353673161 | PROS1 | c.683G>C (p.Cys228Ser) c.638G>C (p.Cys213Ser) n.851G>C c.641G>C (p.Cys214Ser) c.782G>C (n.782G>C) c.779G>C (p.Cys260Ser) c.290G>C (p.Cys97Ser) | |
| 3 | g.93900848C>T | CA353673162 | PROS1 | c.683G>A (p.Cys228Tyr) c.638G>A (p.Cys213Tyr) n.851G>A c.641G>A (p.Cys214Tyr) c.782G>A (n.782G>A) c.779G>A (p.Cys260Tyr) c.290G>A (p.Cys97Tyr) | |
| 3 | g.93900849A>C | CA353673165 | PROS1 | c.682T>G (p.Cys228Gly) c.637T>G (p.Cys213Gly) n.850T>G c.640T>G (p.Cys214Gly) c.781T>G (n.781T>G) c.778T>G (p.Cys260Gly) c.289T>G (p.Cys97Gly) | |
| 3 | g.93900849A>G | CA353673164 | PROS1 | c.682T>C (p.Cys228Arg) c.637T>C (p.Cys213Arg) n.850T>C c.640T>C (p.Cys214Arg) c.781T>C (n.781T>C) c.778T>C (p.Cys260Arg) c.289T>C (p.Cys97Arg) | |
| 3 | g.93900849A>T | CA353673163 | PROS1 | c.682T>A (p.Cys228Ser) c.637T>A (p.Cys213Ser) n.850T>A c.640T>A (p.Cys214Ser) c.781T>A (n.781T>A) c.778T>A (p.Cys260Ser) c.289T>A (p.Cys97Ser) | |
| 3 | g.93900850T>A | CA353673166 | PROS1 | c.681A>T (p.Glu227Asp) c.636A>T (p.Glu212Asp) n.849A>T c.639A>T (p.Glu213Asp) c.780A>T (n.780A>T) c.777A>T (p.Glu259Asp) c.288A>T (p.Glu96Asp) | |
| 3 | g.93900850T>C | CA434461661 | PROS1 | c.681A>G (p.Glu227=) c.636A>G (p.Glu212=) n.849A>G c.639A>G (p.Glu213=) c.780A>G (n.780A>G) c.777A>G (p.Glu259=) c.288A>G (p.Glu96=) | |
| 3 | g.93900850T>G | CA353673167 | PROS1 | c.681A>C (p.Glu227Asp) c.636A>C (p.Glu212Asp) n.849A>C c.639A>C (p.Glu213Asp) c.780A>C (n.780A>C) c.777A>C (p.Glu259Asp) c.288A>C (p.Glu96Asp) | |
| 3 | g.93900851T>A | CA353673168 | PROS1 | c.680A>T (p.Glu227Val) c.635A>T (p.Glu212Val) n.848A>T c.638A>T (p.Glu213Val) c.779A>T (n.779A>T) c.776A>T (p.Glu259Val) c.287A>T (p.Glu96Val) | |
| 3 | g.93900851T>C | CA353673169 | PROS1 | c.680A>G (p.Glu227Gly) c.635A>G (p.Glu212Gly) n.848A>G c.638A>G (p.Glu213Gly) c.779A>G (n.779A>G) c.776A>G (p.Glu259Gly) c.287A>G (p.Glu96Gly) | |
| 3 | g.93900851T>G | CA353673170 | PROS1 | c.680A>C (p.Glu227Ala) c.635A>C (p.Glu212Ala) n.848A>C c.638A>C (p.Glu213Ala) c.779A>C (n.779A>C) c.776A>C (p.Glu259Ala) c.287A>C (p.Glu96Ala) |