WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33432701_33432707del | CA2697553286 | SYNGAP1 | c.146_152del (p.Arg49GlnfsTer?) c.404_410del (p.Arg135GlnfsTer?) c.227_233del (p.Arg76GlnfsTer?) c.359_365del (p.Arg120GlnfsTer?) n.599_605del | ClinVar |
| 6 | g.33432706C>A | CA363680490 | SYNGAP1 | c.151C>A (p.Leu51Ile) c.409C>A (p.Leu137Ile) c.232C>A (p.Leu78Ile) c.364C>A (p.Leu122Ile) n.604C>A | |
| 6 | g.33432706C= | CA1620010180 | SYNGAP1 | c.151C= (p.Leu51=) c.409C= (p.Leu137=) c.232C= (p.Leu78=) c.364C= (p.Leu122=) n.604C= | |
| 6 | g.33432706C>G | CA363680491 | SYNGAP1 | c.151C>G (p.Leu51Val) c.409C>G (p.Leu137Val) c.232C>G (p.Leu78Val) c.364C>G (p.Leu122Val) n.604C>G | |
| 6 | g.33432706C>T | CA449860223 | SYNGAP1 | c.151C>T (p.Leu51=) c.409C>T (p.Leu137=) c.232C>T (p.Leu78=) c.364C>T (p.Leu122=) n.604C>T | dbSNP |
| 6 | g.33432706_33432707delinsCT | CA1620010181 | SYNGAP1 | c.151_152delinsCT (p.Leu51=) c.409_410delinsCT (p.Leu137=) c.232_233delinsCT (p.Leu78=) c.364_365delinsCT (p.Leu122=) n.604_605delinsCT | |
| 6 | g.33432707del | CA915944229 | SYNGAP1 | c.152del (p.Leu51GlnfsTer?) c.410del (p.Leu137GlnfsTer?) c.233del (p.Leu78GlnfsTer?) c.365del (p.Leu122GlnfsTer?) n.605del | ClinVar dbSNP |
| 6 | g.33432707T>A | CA363680494 | SYNGAP1 | c.152T>A (p.Leu51Gln) c.410T>A (p.Leu137Gln) c.233T>A (p.Leu78Gln) c.365T>A (p.Leu122Gln) n.605T>A | |
| 6 | g.33432707T>C | CA363680496 | SYNGAP1 | c.152T>C (p.Leu51Pro) c.410T>C (p.Leu137Pro) c.233T>C (p.Leu78Pro) c.365T>C (p.Leu122Pro) n.605T>C | |
| 6 | g.33432707T>G | CA363680497 | SYNGAP1 | c.152T>G (p.Leu51Arg) c.410T>G (p.Leu137Arg) c.233T>G (p.Leu78Arg) c.365T>G (p.Leu122Arg) n.605T>G | |
| 6 | g.33432707_33432708delinsTA | CA1620010182 | SYNGAP1 | c.152_153delinsTA (p.Leu51=) c.410_411delinsTA (p.Leu137=) c.233_234delinsTA (p.Leu78=) c.365_366delinsTA (p.Leu122=) n.605_606delinsTA | |
| 6 | g.33432708A= | CA1620010183 | SYNGAP1 | c.153A= (p.Leu51=) c.411A= (p.Leu137=) c.234A= (p.Leu78=) c.366A= (p.Leu122=) n.606A= | |
| 6 | g.33432708A>C | CA449860226 | SYNGAP1 | c.153A>C (p.Leu51=) c.411A>C (p.Leu137=) c.234A>C (p.Leu78=) c.366A>C (p.Leu122=) n.606A>C | |
| 6 | g.33432708A>G | CA449860227 | SYNGAP1 | c.153A>G (p.Leu51=) c.411A>G (p.Leu137=) c.234A>G (p.Leu78=) c.366A>G (p.Leu122=) n.606A>G | dbSNP gnomAD v4 |
| 6 | g.33432708A>T | CA449860230 | SYNGAP1 | c.153A>T (p.Leu51=) c.411A>T (p.Leu137=) c.234A>T (p.Leu78=) c.366A>T (p.Leu122=) n.606A>T | ClinVar |
| 6 | g.33432712del | CA137096976 | SYNGAP1 | c.157del (p.Ser53AlafsTer?) c.415del (p.Ser139AlafsTer?) c.238del (p.Ser80AlafsTer?) c.370del (p.Ser124AlafsTer?) n.610del | dbSNP COSMIC COSMIC |
| 6 | g.33432709A= | CA1620010184 | SYNGAP1 | c.154A= (p.Lys52=) c.412A= (p.Lys138=) c.235A= (p.Lys79=) c.367A= (p.Lys123=) n.607A= | |
| 6 | g.33432709A>C | CA363680501 | SYNGAP1 | c.154A>C (p.Lys52Gln) c.412A>C (p.Lys138Gln) c.235A>C (p.Lys79Gln) c.367A>C (p.Lys123Gln) n.607A>C | |
| 6 | g.33432709A>G | CA363680502 | SYNGAP1 | c.154A>G (p.Lys52Glu) c.412A>G (p.Lys138Glu) c.235A>G (p.Lys79Glu) c.367A>G (p.Lys123Glu) n.607A>G | |
| 6 | g.33432709A>T | CA118186 | SYNGAP1 | c.154A>T (p.Lys52Ter) c.412A>T (p.Lys138Ter) c.235A>T (p.Lys79Ter) c.367A>T (p.Lys123Ter) n.607A>T | ClinVar dbSNP |
| 6 | g.33432710A>C | CA363680505 | SYNGAP1 | c.155A>C (p.Lys52Thr) c.413A>C (p.Lys138Thr) c.236A>C (p.Lys79Thr) c.368A>C (p.Lys123Thr) n.608A>C | |
| 6 | g.33432710A>G | CA363680506 | SYNGAP1 | c.155A>G (p.Lys52Arg) c.413A>G (p.Lys138Arg) c.236A>G (p.Lys79Arg) c.368A>G (p.Lys123Arg) n.608A>G | |
| 6 | g.33432710A>T | CA363680508 | SYNGAP1 | c.155A>T (p.Lys52Ile) c.413A>T (p.Lys138Ile) c.236A>T (p.Lys79Ile) c.368A>T (p.Lys123Ile) n.608A>T | |
| 6 | g.33432711A>C | CA363680510 | SYNGAP1 | c.156A>C (p.Lys52Asn) c.414A>C (p.Lys138Asn) c.237A>C (p.Lys79Asn) c.369A>C (p.Lys123Asn) n.609A>C | |
| 6 | g.33432711A>G | CA449860235 | SYNGAP1 | c.156A>G (p.Lys52=) c.414A>G (p.Lys138=) c.237A>G (p.Lys79=) c.369A>G (p.Lys123=) n.609A>G | |
| 6 | g.33432711A>T | CA363680512 | SYNGAP1 | c.156A>T (p.Lys52Asn) c.414A>T (p.Lys138Asn) c.237A>T (p.Lys79Asn) c.369A>T (p.Lys123Asn) n.609A>T | |
| 6 | g.33432712A>C | CA363680518 | SYNGAP1 | c.157A>C (p.Ser53Arg) c.415A>C (p.Ser139Arg) c.238A>C (p.Ser80Arg) c.370A>C (p.Ser124Arg) n.610A>C | |
| 6 | g.33432712A>G | CA363680514 | SYNGAP1 | c.157A>G (p.Ser53Gly) c.415A>G (p.Ser139Gly) c.238A>G (p.Ser80Gly) c.370A>G (p.Ser124Gly) n.610A>G | |
| 6 | g.33432712A>T | CA363680516 | SYNGAP1 | c.157A>T (p.Ser53Cys) c.415A>T (p.Ser139Cys) c.238A>T (p.Ser80Cys) c.370A>T (p.Ser124Cys) n.610A>T | |
| 6 | g.33432713G>A | CA363680520 | SYNGAP1 | c.158G>A (p.Ser53Asn) c.416G>A (p.Ser139Asn) c.239G>A (p.Ser80Asn) c.371G>A (p.Ser124Asn) n.611G>A | ClinVar gnomAD v4 |
| 6 | g.33432713G>C | CA363680522 | SYNGAP1 | c.158G>C (p.Ser53Thr) c.416G>C (p.Ser139Thr) c.239G>C (p.Ser80Thr) c.371G>C (p.Ser124Thr) n.611G>C | |
| 6 | g.33432713G>T | CA363680524 | SYNGAP1 | c.158G>T (p.Ser53Ile) c.416G>T (p.Ser139Ile) c.239G>T (p.Ser80Ile) c.371G>T (p.Ser124Ile) n.611G>T | |
| 6 | g.33432714C>A | CA363680526 | SYNGAP1 | c.159C>A (p.Ser53Arg) c.417C>A (p.Ser139Arg) c.240C>A (p.Ser80Arg) c.372C>A (p.Ser124Arg) n.612C>A | |
| 6 | g.33432714C>G | CA363680528 | SYNGAP1 | c.159C>G (p.Ser53Arg) c.417C>G (p.Ser139Arg) c.240C>G (p.Ser80Arg) c.372C>G (p.Ser124Arg) n.612C>G | |
| 6 | g.33432714C>T | CA449860246 | SYNGAP1 | c.159C>T (p.Ser53=) c.417C>T (p.Ser139=) c.240C>T (p.Ser80=) c.372C>T (p.Ser124=) n.612C>T | |
| 6 | g.33432715T>A | CA363680530 | SYNGAP1 | c.160T>A (p.Ser54Thr) c.418T>A (p.Ser140Thr) c.241T>A (p.Ser81Thr) c.373T>A (p.Ser125Thr) n.613T>A | |
| 6 | g.33432715T>C | CA363680531 | SYNGAP1 | c.160T>C (p.Ser54Pro) c.418T>C (p.Ser140Pro) c.241T>C (p.Ser81Pro) c.373T>C (p.Ser125Pro) n.613T>C | |
| 6 | g.33432715T>G | CA363680533 | SYNGAP1 | c.160T>G (p.Ser54Ala) c.418T>G (p.Ser140Ala) c.241T>G (p.Ser81Ala) c.373T>G (p.Ser125Ala) n.613T>G | |
| 6 | g.33432716C>A | CA363680536 | SYNGAP1 | c.161C>A (p.Ser54Tyr) c.419C>A (p.Ser140Tyr) c.242C>A (p.Ser81Tyr) c.374C>A (p.Ser125Tyr) n.614C>A | |
| 6 | g.33432716C>G | CA363680540 | SYNGAP1 | c.161C>G (p.Ser54Cys) c.419C>G (p.Ser140Cys) c.242C>G (p.Ser81Cys) c.374C>G (p.Ser125Cys) n.614C>G | |
| 6 | g.33432716C>T | CA363680543 | SYNGAP1 | c.161C>T (p.Ser54Phe) c.419C>T (p.Ser140Phe) c.242C>T (p.Ser81Phe) c.374C>T (p.Ser125Phe) n.614C>T | |
| 6 | g.33432717C>A | CA449860255 | SYNGAP1 | c.162C>A (p.Ser54=) c.420C>A (p.Ser140=) c.243C>A (p.Ser81=) c.375C>A (p.Ser125=) n.615C>A | |
| 6 | g.33432717C>G | CA449860256 | SYNGAP1 | c.162C>G (p.Ser54=) c.420C>G (p.Ser140=) c.243C>G (p.Ser81=) c.375C>G (p.Ser125=) n.615C>G | |
| 6 | g.33432717C>T | CA449860257 | SYNGAP1 | c.162C>T (p.Ser54=) c.420C>T (p.Ser140=) c.243C>T (p.Ser81=) c.375C>T (p.Ser125=) n.615C>T | |
| 6 | g.33432718A>C | CA363680549 | SYNGAP1 | c.163A>C (p.Ile55Leu) c.421A>C (p.Ile141Leu) c.244A>C (p.Ile82Leu) c.376A>C (p.Ile126Leu) n.616A>C | |
| 6 | g.33432718A>G | CA363680548 | SYNGAP1 | c.163A>G (p.Ile55Val) c.421A>G (p.Ile141Val) c.244A>G (p.Ile82Val) c.376A>G (p.Ile126Val) n.616A>G | gnomAD v4 |
| 6 | g.33432718A>T | CA363680546 | SYNGAP1 | c.163A>T (p.Ile55Phe) c.421A>T (p.Ile141Phe) c.244A>T (p.Ile82Phe) c.376A>T (p.Ile126Phe) n.616A>T | |
| 6 | g.33432719T>A | CA363680552 | SYNGAP1 | c.164T>A (p.Ile55Asn) c.422T>A (p.Ile141Asn) c.245T>A (p.Ile82Asn) c.377T>A (p.Ile126Asn) n.617T>A | |
| 6 | g.33432719T>C | CA363680553 | SYNGAP1 | c.164T>C (p.Ile55Thr) c.422T>C (p.Ile141Thr) c.245T>C (p.Ile82Thr) c.377T>C (p.Ile126Thr) n.617T>C | |
| 6 | g.33432719T>G | CA363680554 | SYNGAP1 | c.164T>G (p.Ile55Ser) c.422T>G (p.Ile141Ser) c.245T>G (p.Ile82Ser) c.377T>G (p.Ile126Ser) n.617T>G |