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.161305808_161309983dup | CA10584071 | ClinVar | ||
| 1 | g.161306776_161306790del | CA915943869 | MPZ | c.367+1_367+15del c.368_382del (p.Gly123_Cys127del) c.-221_-207del (n.-221_-207del) n.431_445del c.111+1_111+15del c.398_412del (p.Gly133_Cys137del) | ClinVar dbSNP |
| 1 | g.161306790A= | CA1202689491 | MPZ | c.366T= (p.Asn122=) c.-223T= (n.-223T=) n.429T= c.110T= c.396T= (p.Asn132=) | |
| 1 | g.161306790A>C | CA16621580 | MPZ | c.366T>G (p.Asn122Lys) c.-223T>G (n.-223T>G) n.429T>G c.110T>G c.396T>G (p.Asn132Lys) | ClinVar dbSNP |
| 1 | g.161306790A>G | CA421405139 | MPZ | c.366T>C (p.Asn122=) c.-223T>C (n.-223T>C) n.429T>C c.110T>C c.396T>C (p.Asn132=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306790A>T | CA343349032 | MPZ | c.366T>A (p.Asn122Lys) c.-223T>A (n.-223T>A) n.429T>A c.110T>A c.396T>A (p.Asn132Lys) | |
| 1 | g.161306791T>A | CA343349040 | MPZ | c.365A>T (p.Asn122Ile) c.-224A>T (n.-224A>T) n.428A>T c.109A>T c.395A>T (p.Asn132Ile) | |
| 1 | g.161306791T>C | CA343349044 | MPZ | c.365A>G (p.Asn122Ser) c.-224A>G (n.-224A>G) n.428A>G c.109A>G c.395A>G (p.Asn132Ser) | ClinVar dbSNP |
| 1 | g.161306791T>G | CA343349037 | MPZ | c.365A>C (p.Asn122Thr) c.-224A>C (n.-224A>C) n.428A>C c.109A>C c.395A>C (p.Asn132Thr) | |
| 1 | g.161306791T= | CA1202689499 | MPZ | c.365A= (p.Asn122=) c.-224A= (n.-224A=) n.428A= c.109A= c.395A= (p.Asn132=) | |
| 1 | g.161306792T>A | CA343349047 | MPZ | c.364A>T (p.Asn122Tyr) c.-225A>T (n.-225A>T) n.427A>T c.108A>T c.394A>T (p.Asn132Tyr) | |
| 1 | g.161306792T>C | CA343349045 | MPZ | c.364A>G (p.Asn122Asp) c.-225A>G (n.-225A>G) n.427A>G c.108A>G c.394A>G (p.Asn132Asp) | ClinVar dbSNP |
| 1 | g.161306792T>G | CA343349051 | MPZ | c.364A>C (p.Asn122His) c.-225A>C (n.-225A>C) n.427A>C c.108A>C c.394A>C (p.Asn132His) | |
| 1 | g.161306792T= | CA1202689507 | MPZ | c.364A= (p.Asn122=) c.-225A= (n.-225A=) n.427A= c.108A= c.394A= (p.Asn132=) | |
| 1 | g.161306793G>A | CA421405144 | MPZ | c.363C>T (p.Asp121=) c.-226C>T (n.-226C>T) n.426C>T c.107C>T c.393C>T (p.Asp131=) | |
| 1 | g.161306793G>C | CA343349053 | MPZ | c.363C>G (p.Asp121Glu) c.-226C>G (n.-226C>G) n.426C>G c.107C>G c.393C>G (p.Asp131Glu) | |
| 1 | g.161306793G>T | CA343349054 | MPZ | c.363C>A (p.Asp121Glu) c.-226C>A (n.-226C>A) n.426C>A c.107C>A c.393C>A (p.Asp131Glu) | |
| 1 | g.161306794T>A | CA343349055 | MPZ | c.362A>T (p.Asp121Val) c.-227A>T (n.-227A>T) n.425A>T c.106A>T c.392A>T (p.Asp131Val) | |
| 1 | g.161306794T>C | CA343349058 | MPZ | c.362A>G (p.Asp121Gly) c.-227A>G (n.-227A>G) n.425A>G c.106A>G c.392A>G (p.Asp131Gly) | ClinVar dbSNP |
| 1 | g.161306794T>G | CA343349063 | MPZ | c.362A>C (p.Asp121Ala) c.-227A>C (n.-227A>C) n.425A>C c.106A>C c.392A>C (p.Asp131Ala) | ClinVar dbSNP |
| 1 | g.161306794T= | CA1202689515 | MPZ | c.362A= (p.Asp121=) c.-227A= (n.-227A=) n.425A= c.106A= c.392A= (p.Asp131=) | |
| 1 | g.161306795C>A | CA343349077 | MPZ | c.361G>T (p.Asp121Tyr) c.-228G>T (n.-228G>T) n.424G>T c.105G>T c.391G>T (p.Asp131Tyr) | |
| 1 | g.161306795C= | CA1202689522 | MPZ | c.361G= (p.Asp121=) c.-228G= (n.-228G=) n.424G= c.105G= c.391G= (p.Asp131=) | |
| 1 | g.161306795C>G | CA343349088 | MPZ | c.361G>C (p.Asp121His) c.-228G>C (n.-228G>C) n.424G>C c.105G>C c.391G>C (p.Asp131His) | |
| 1 | g.161306795C>T | CA343349091 | MPZ | c.361G>A (p.Asp121Asn) c.-228G>A (n.-228G>A) n.424G>A c.105G>A c.391G>A (p.Asp131Asn) | ClinVar dbSNP |
| 1 | g.161306796A>C | CA343349097 | MPZ | c.360T>G (p.Ser120Arg) c.-229T>G (n.-229T>G) n.423T>G c.104T>G c.390T>G (p.Ser130Arg) | |
| 1 | g.161306796A>G | CA421405150 | MPZ | c.360T>C (p.Ser120=) c.-229T>C (n.-229T>C) n.423T>C c.104T>C c.390T>C (p.Ser130=) | gnomAD v4 |
| 1 | g.161306796A>T | CA343349103 | MPZ | c.360T>A (p.Ser120Arg) c.-229T>A (n.-229T>A) n.423T>A c.104T>A c.390T>A (p.Ser130Arg) | |
| 1 | g.161306796_161306798del | CA2586967664 | MPZ | c.358_360del (p.Ser120del) c.-231_-229del (n.-231_-229del) n.421_423del c.102_104del c.388_390del (p.Ser130del) | |
| 1 | g.161306797C>A | CA343349106 | MPZ | c.359G>T (p.Ser120Ile) c.-230G>T (n.-230G>T) n.422G>T c.103G>T c.389G>T (p.Ser130Ile) | |
| 1 | g.161306797C>G | CA343349113 | MPZ | c.359G>C (p.Ser120Thr) c.-230G>C (n.-230G>C) n.422G>C c.103G>C c.389G>C (p.Ser130Thr) | |
| 1 | g.161306797C>T | CA343349110 | MPZ | c.359G>A (p.Ser120Asn) c.-230G>A (n.-230G>A) n.422G>A c.103G>A c.389G>A (p.Ser130Asn) | |
| 1 | g.161306798T>A | CA343349117 | MPZ | c.358A>T (p.Ser120Cys) c.-231A>T (n.-231A>T) n.421A>T c.102A>T c.388A>T (p.Ser130Cys) | |
| 1 | g.161306798T>C | CA343349121 | MPZ | c.358A>G (p.Ser120Gly) c.-231A>G (n.-231A>G) n.421A>G c.102A>G c.388A>G (p.Ser130Gly) | ClinVar |
| 1 | g.161306798T>G | CA343349135 | MPZ | c.358A>C (p.Ser120Arg) c.-231A>C (n.-231A>C) n.421A>C c.102A>C c.388A>C (p.Ser130Arg) | |
| 1 | g.161306799G>A | CA421405153 | MPZ | c.357C>T (p.Tyr119=) c.-232C>T (n.-232C>T) n.420C>T c.101C>T c.387C>T (p.Tyr129=) | |
| 1 | g.161306799G>C | CA343349141 | MPZ | c.357C>G (p.Tyr119Ter) c.-232C>G (n.-232C>G) n.420C>G c.101C>G c.387C>G (p.Tyr129Ter) | |
| 1 | g.161306799G>T | CA343349144 | MPZ | c.357C>A (p.Tyr119Ter) c.-232C>A (n.-232C>A) n.420C>A c.101C>A c.387C>A (p.Tyr129Ter) | |
| 1 | g.161306801_161306803dup | CA2586967665 | MPZ | c.355_357dup (p.Tyr119_Ser120insTyr) c.-234_-232dup (n.-234_-232dup) n.418_420dup c.99_101dup c.385_387dup (p.Tyr129_Ser130insTyr) | |
| 1 | g.161306800T>A | CA343349147 | MPZ | c.356A>T (p.Tyr119Phe) c.-233A>T (n.-233A>T) n.419A>T c.100A>T c.386A>T (p.Tyr129Phe) | |
| 1 | g.161306800T>C | CA10584144 | MPZ | c.356A>G (p.Tyr119Cys) c.-233A>G (n.-233A>G) n.419A>G c.100A>G c.386A>G (p.Tyr129Cys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161306800T>G | CA343349148 | MPZ | c.356A>C (p.Tyr119Ser) c.-233A>C (n.-233A>C) n.419A>C c.100A>C c.386A>C (p.Tyr129Ser) | |
| 1 | g.161306800T= | CA1202689526 | MPZ | c.356A= (p.Tyr119=) c.-233A= (n.-233A=) n.419A= c.100A= c.386A= (p.Tyr129=) | |
| 1 | g.161306801A= | CA1202689535 | MPZ | c.355T= (p.Tyr119=) c.-234T= (n.-234T=) n.418T= c.99T= c.385T= (p.Tyr129=) | |
| 1 | g.161306801A>C | CA343349151 | MPZ | c.355T>G (p.Tyr119Asp) c.-234T>G (n.-234T>G) n.418T>G c.99T>G c.385T>G (p.Tyr129Asp) | |
| 1 | g.161306801A>G | CA343349158 | MPZ | c.355T>C (p.Tyr119His) c.-234T>C (n.-234T>C) n.418T>C c.99T>C c.385T>C (p.Tyr129His) | dbSNP gnomAD v4 |
| 1 | g.161306801A>T | CA31668727 | MPZ | c.355T>A (p.Tyr119Asn) c.-234T>A (n.-234T>A) n.418T>A c.99T>A c.385T>A (p.Tyr129Asn) | dbSNP |
| 1 | g.161306803_161306804insAGAAGT | CA2586967666 | MPZ | c.355_356insTCTACT (p.Asp118_Tyr119insPheTyr) c.-234_-233insTCTACT (n.-234_-233insTCTACT) n.418_419insTCTACT c.99_100insTCTACT c.385_386insTCTACT (p.Asp128_Tyr129insPheTyr) | |
| 1 | g.161306802G>A | CA1210182 | MPZ | c.354C>T (p.Asp118=) c.-235C>T (n.-235C>T) n.417C>T c.98C>T c.384C>T (p.Asp128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161306802G>C | CA343349169 | MPZ | c.354C>G (p.Asp118Glu) c.-235C>G (n.-235C>G) n.417C>G c.98C>G c.384C>G (p.Asp128Glu) |