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.161307321_161307341del | CA2586967672 | MPZ | c.151_171del (p.Ser51_Trp57del) c.-438_-418del (n.-438_-418del) n.214_234del c.181_201del (p.Ser61_Trp67del) | |
| 1 | g.161307325T>A | CA343350911 | MPZ | c.167A>T (p.Glu56Val) c.-422A>T (n.-422A>T) n.230A>T c.197A>T (p.Glu66Val) | |
| 1 | g.161307325T>C | CA343350922 | MPZ | c.167A>G (p.Glu56Gly) c.-422A>G (n.-422A>G) n.230A>G c.197A>G (p.Glu66Gly) | |
| 1 | g.161307325T>G | CA343350915 | MPZ | c.167A>C (p.Glu56Ala) c.-422A>C (n.-422A>C) n.230A>C c.197A>C (p.Glu66Ala) | |
| 1 | g.161307326C>A | CA343350936 | MPZ | c.166G>T (p.Glu56Ter) c.-423G>T (n.-423G>T) n.229G>T c.196G>T (p.Glu66Ter) | |
| 1 | g.161307326C= | CA1202690672 | MPZ | c.166G= (p.Glu56=) c.-423G= (n.-423G=) n.229G= c.196G= (p.Glu66=) | |
| 1 | g.161307326C>G | CA343350942 | MPZ | c.166G>C (p.Glu56Gln) c.-423G>C (n.-423G>C) n.229G>C c.196G>C (p.Glu66Gln) | |
| 1 | g.161307326C>T | CA343350950 | MPZ | c.166G>A (p.Glu56Lys) c.-423G>A (n.-423G>A) n.229G>A c.196G>A (p.Glu66Lys) | ClinVar dbSNP |
| 1 | g.161307327A>C | CA343350985 | MPZ | c.165T>G (p.Ser55Arg) c.-424T>G (n.-424T>G) n.228T>G c.195T>G (p.Ser65Arg) | |
| 1 | g.161307327A>G | CA421405695 | MPZ | c.165T>C (p.Ser55=) c.-424T>C (n.-424T>C) n.228T>C c.195T>C (p.Ser65=) | |
| 1 | g.161307327A>T | CA343350998 | MPZ | c.165T>A (p.Ser55Arg) c.-424T>A (n.-424T>A) n.228T>A c.195T>A (p.Ser65Arg) | |
| 1 | g.161307328C>A | CA343911 | MPZ | c.164G>T (p.Ser55Ile) c.-425G>T (n.-425G>T) n.227G>T c.194G>T (p.Ser65Ile) | ClinVar dbSNP |
| 1 | g.161307328C= | CA1143538442 | MPZ | c.164G= (p.Ser55=) c.-425G= (n.-425G=) n.227G= c.194G= (p.Ser65=) | |
| 1 | g.161307328C>G | CA343351015 | MPZ | c.164G>C (p.Ser55Thr) c.-425G>C (n.-425G>C) n.227G>C c.194G>C (p.Ser65Thr) | |
| 1 | g.161307328C>T | CA31669547 | MPZ | c.164G>A (p.Ser55Asn) c.-425G>A (n.-425G>A) n.227G>A c.194G>A (p.Ser65Asn) | ClinVar dbSNP |
| 1 | g.161307329T>A | CA343351029 | MPZ | c.163A>T (p.Ser55Cys) c.-426A>T (n.-426A>T) n.226A>T c.193A>T (p.Ser65Cys) | |
| 1 | g.161307329T>C | CA343351042 | MPZ | c.163A>G (p.Ser55Gly) c.-426A>G (n.-426A>G) n.226A>G c.193A>G (p.Ser65Gly) | |
| 1 | g.161307329T>G | CA343351046 | MPZ | c.163A>C (p.Ser55Arg) c.-426A>C (n.-426A>C) n.226A>C c.193A>C (p.Ser65Arg) | |
| 1 | g.161307330G>A | CA421405697 | MPZ | c.162C>T (p.Ser54=) c.-427C>T (n.-427C>T) n.225C>T c.192C>T (p.Ser64=) | |
| 1 | g.161307330G>C | CA421405698 | MPZ | c.162C>G (p.Ser54=) c.-427C>G (n.-427C>G) n.225C>G c.192C>G (p.Ser64=) | |
| 1 | g.161307330G= | CA1143960298 | MPZ | c.162C= (p.Ser54=) c.-427C= (n.-427C=) n.225C= c.192C= (p.Ser64=) | |
| 1 | g.161307330G>T | CA1210222 | MPZ | c.162C>A (p.Ser54=) c.-427C>A (n.-427C>A) n.225C>A c.192C>A (p.Ser64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161307331G>A | CA343351063 | MPZ | c.161C>T (p.Ser54Phe) c.-428C>T (n.-428C>T) n.224C>T c.191C>T (p.Ser64Phe) | |
| 1 | g.161307331G>C | CA343351048 | MPZ | c.161C>G (p.Ser54Cys) c.-428C>G (n.-428C>G) n.224C>G c.191C>G (p.Ser64Cys) | ClinVar dbSNP |
| 1 | g.161307331G= | CA1202690687 | MPZ | c.161C= (p.Ser54=) c.-428C= (n.-428C=) n.224C= c.191C= (p.Ser64=) | |
| 1 | g.161307331G>T | CA343351062 | MPZ | c.161C>A (p.Ser54Tyr) c.-428C>A (n.-428C>A) n.224C>A c.191C>A (p.Ser64Tyr) | |
| 1 | g.161307332A= | CA1202690691 | MPZ | c.160T= (p.Ser54=) c.-429T= (n.-429T=) n.223T= c.190T= (p.Ser64=) | |
| 1 | g.161307332A>C | CA343351067 | MPZ | c.160T>G (p.Ser54Ala) c.-429T>G (n.-429T>G) n.223T>G c.190T>G (p.Ser64Ala) | ClinVar dbSNP |
| 1 | g.161307332A>G | CA343351070 | MPZ | c.160T>C (p.Ser54Pro) c.-429T>C (n.-429T>C) n.223T>C c.190T>C (p.Ser64Pro) | ClinVar dbSNP |
| 1 | g.161307332A>T | CA343351079 | MPZ | c.160T>A (p.Ser54Thr) c.-429T>A (n.-429T>A) n.223T>A c.190T>A (p.Ser64Thr) | |
| 1 | g.161307333C>A | CA343351085 | MPZ | c.159G>T (p.Trp53Cys) c.-430G>T (n.-430G>T) n.222G>T c.189G>T (p.Trp63Cys) | ClinVar |
| 1 | g.161307333C= | CA1202690698 | MPZ | c.159G= (p.Trp53=) c.-430G= (n.-430G=) n.222G= c.189G= (p.Trp63=) | |
| 1 | g.161307333C>G | CA343351089 | MPZ | c.159G>C (p.Trp53Cys) c.-430G>C (n.-430G>C) n.222G>C c.189G>C (p.Trp63Cys) | ClinVar dbSNP |
| 1 | g.161307333C>T | CA343351090 | MPZ | c.159G>A (p.Trp53Ter) c.-430G>A (n.-430G>A) n.222G>A c.189G>A (p.Trp63Ter) | ClinVar dbSNP |
| 1 | g.161307334C>A | CA343351096 | MPZ | c.158G>T (p.Trp53Leu) c.-431G>T (n.-431G>T) n.221G>T c.188G>T (p.Trp63Leu) | |
| 1 | g.161307334C>G | CA343351091 | MPZ | c.158G>C (p.Trp53Ser) c.-431G>C (n.-431G>C) n.221G>C c.188G>C (p.Trp63Ser) | |
| 1 | g.161307334C>T | CA343351094 | MPZ | c.158G>A (p.Trp53Ter) c.-431G>A (n.-431G>A) n.221G>A c.188G>A (p.Trp63Ter) | |
| 1 | g.161307334_161307337delinsCAGA | CA1202690701 | MPZ | c.155_158delinsTCTG (p.Phe52=) c.-434_-431delinsTCTG (n.-434_-431delinsTCTG) n.218_221delinsTCTG c.185_188delinsTCTG (p.Phe62=) | |
| 1 | g.161307335A>C | CA343351107 | MPZ | c.157T>G (p.Trp53Gly) c.-432T>G (n.-432T>G) n.220T>G c.187T>G (p.Trp63Gly) | |
| 1 | g.161307335A>G | CA343351111 | MPZ | c.157T>C (p.Trp53Arg) c.-432T>C (n.-432T>C) n.220T>C c.187T>C (p.Trp63Arg) | |
| 1 | g.161307335A>T | CA343351113 | MPZ | c.157T>A (p.Trp53Arg) c.-432T>A (n.-432T>A) n.220T>A c.187T>A (p.Trp63Arg) | |
| 1 | g.161307337_161307339del | CA658656972 | MPZ | c.155_157del (p.Phe52del) c.-434_-432del (n.-434_-432del) n.218_220del c.185_187del (p.Phe62del) | ClinVar dbSNP |
| 1 | g.161307336G>A | CA421405701 | MPZ | c.156C>T (p.Phe52=) c.-433C>T (n.-433C>T) n.219C>T c.186C>T (p.Phe62=) | |
| 1 | g.161307336G>C | CA343351115 | MPZ | c.156C>G (p.Phe52Leu) c.-433C>G (n.-433C>G) n.219C>G c.186C>G (p.Phe62Leu) | ClinVar dbSNP |
| 1 | g.161307336G>T | CA343351120 | MPZ | c.156C>A (p.Phe52Leu) c.-433C>A (n.-433C>A) n.219C>A c.186C>A (p.Phe62Leu) | |
| 1 | g.161307337A>C | CA343351128 | MPZ | c.155T>G (p.Phe52Cys) c.-434T>G (n.-434T>G) n.218T>G c.185T>G (p.Phe62Cys) | |
| 1 | g.161307337A>G | CA343351123 | MPZ | c.155T>C (p.Phe52Ser) c.-434T>C (n.-434T>C) n.218T>C c.185T>C (p.Phe62Ser) | |
| 1 | g.161307337A>T | CA343351124 | MPZ | c.155T>A (p.Phe52Tyr) c.-434T>A (n.-434T>A) n.218T>A c.185T>A (p.Phe62Tyr) | |
| 1 | g.161307338A= | CA1202690709 | MPZ | c.154T= (p.Phe52=) c.-435T= (n.-435T=) n.217T= c.184T= (p.Phe62=) |