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 |
|---|---|---|---|---|---|
| 8 | g.47862372C>A | CA371162093 | PRKDC | c.5919+1G>T (n.5919+1G>T) n.586G>T | |
| 8 | g.47862372C>G | CA371162095 | PRKDC | c.5919+1G>C (n.5919+1G>C) n.586G>C | |
| 8 | g.47862372C>T | CA371162096 | PRKDC | c.5919+1G>A (n.5919+1G>A) n.586G>A | |
| 8 | g.47862373C>A | CA371162098 | PRKDC | c.5919G>T (p.Lys1973Asn) n.585G>T | |
| 8 | g.47862373C>G | CA371162099 | PRKDC | c.5919G>C (p.Lys1973Asn) n.585G>C | |
| 8 | g.47862373C>T | CA460607477 | PRKDC | c.5919G>A (p.Lys1973=) n.585G>A | |
| 8 | g.47862374T>A | CA371162101 | PRKDC | c.5918A>T (p.Lys1973Met) n.584A>T | |
| 8 | g.47862374T>C | CA371162104 | PRKDC | c.5918A>G (p.Lys1973Arg) n.584A>G | |
| 8 | g.47862374T>G | CA371162103 | PRKDC | c.5918A>C (p.Lys1973Thr) n.584A>C | |
| 8 | g.47862375T>A | CA371162105 | PRKDC | c.5917A>T (p.Lys1973Ter) n.583A>T | |
| 8 | g.47862375T>C | CA371162108 | PRKDC | c.5917A>G (p.Lys1973Glu) n.583A>G | |
| 8 | g.47862375T>G | CA371162107 | PRKDC | c.5917A>C (p.Lys1973Gln) n.583A>C | |
| 8 | g.47862376T>A | CA371162110 | PRKDC | c.5916A>T (p.Glu1972Asp) n.582A>T | |
| 8 | g.47862376T>C | CA460607479 | PRKDC | c.5916A>G (p.Glu1972=) n.582A>G | |
| 8 | g.47862376T>G | CA371162111 | PRKDC | c.5916A>C (p.Glu1972Asp) n.582A>C | |
| 8 | g.47862377T>A | CA371162113 | PRKDC | c.5915A>T (p.Glu1972Val) n.581A>T | gnomAD v4 |
| 8 | g.47862377T>C | CA371162117 | PRKDC | c.5915A>G (p.Glu1972Gly) n.581A>G | |
| 8 | g.47862377T>G | CA371162115 | PRKDC | c.5915A>C (p.Glu1972Ala) n.581A>C | |
| 8 | g.47862378C>A | CA371162118 | PRKDC | c.5914G>T (p.Glu1972Ter) n.580G>T | |
| 8 | g.47862378C= | CA1781860378 | PRKDC | c.5914G= (p.Glu1972=) n.580G= | |
| 8 | g.47862378C>G | CA371162121 | PRKDC | c.5914G>C (p.Glu1972Gln) n.580G>C | |
| 8 | g.47862378C>T | CA371162120 | PRKDC | c.5914G>A (p.Glu1972Lys) n.580G>A | dbSNP |
| 8 | g.47862379T>A | CA460607481 | PRKDC | c.5913A>T (p.Pro1971=) n.579A>T | |
| 8 | g.47862379T>C | CA460607482 | PRKDC | c.5913A>G (p.Pro1971=) n.579A>G | |
| 8 | g.47862379T>G | CA176171868 | PRKDC | c.5913A>C (p.Pro1971=) n.579A>C | dbSNP |
| 8 | g.47862379T= | CA1781860381 | PRKDC | c.5913A= (p.Pro1971=) n.579A= | |
| 8 | g.47862380G>A | CA371162123 | PRKDC | c.5912C>T (p.Pro1971Leu) n.578C>T | |
| 8 | g.47862380G>C | CA371162126 | PRKDC | c.5912C>G (p.Pro1971Arg) n.578C>G | |
| 8 | g.47862380G>T | CA371162125 | PRKDC | c.5912C>A (p.Pro1971Gln) n.578C>A | |
| 8 | g.47862381G>A | CA371162128 | PRKDC | c.5911C>T (p.Pro1971Ser) n.577C>T | |
| 8 | g.47862381G>C | CA371162130 | PRKDC | c.5911C>G (p.Pro1971Ala) n.577C>G | ClinVar |
| 8 | g.47862381G= | CA1781860386 | PRKDC | c.5911C= (p.Pro1971=) n.577C= | |
| 8 | g.47862381G>T | CA371162132 | PRKDC | c.5911C>A (p.Pro1971Thr) n.577C>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.47862382T>A | CA371162134 | PRKDC | c.5910A>T (p.Lys1970Asn) n.576A>T | |
| 8 | g.47862382T>C | CA460607483 | PRKDC | c.5910A>G (p.Lys1970=) n.576A>G | COSMIC |
| 8 | g.47862382T>G | CA371162135 | PRKDC | c.5910A>C (p.Lys1970Asn) n.576A>C | |
| 8 | g.47862383T>A | CA371162137 | PRKDC | c.5909A>T (p.Lys1970Ile) n.575A>T | |
| 8 | g.47862383T>C | CA371162138 | PRKDC | c.5909A>G (p.Lys1970Arg) n.575A>G | |
| 8 | g.47862383T>G | CA371162140 | PRKDC | c.5909A>C (p.Lys1970Thr) n.575A>C | ClinVar |
| 8 | g.47862384T>A | CA371162142 | PRKDC | c.5908A>T (p.Lys1970Ter) n.574A>T | |
| 8 | g.47862384T>C | CA371162144 | PRKDC | c.5908A>G (p.Lys1970Glu) n.574A>G | |
| 8 | g.47862384T>G | CA371162145 | PRKDC | c.5908A>C (p.Lys1970Gln) n.574A>C | |
| 8 | g.47862385T>A | CA371162147 | PRKDC | c.5907A>T (p.Glu1969Asp) n.573A>T | |
| 8 | g.47862385T>C | CA460607488 | PRKDC | c.5907A>G (p.Glu1969=) n.573A>G | |
| 8 | g.47862385T>G | CA371162146 | PRKDC | c.5907A>C (p.Glu1969Asp) n.573A>C | gnomAD v4 |
| 8 | g.47862386T>A | CA371162149 | PRKDC | c.5906A>T (p.Glu1969Val) n.572A>T | |
| 8 | g.47862386T>C | CA371162151 | PRKDC | c.5906A>G (p.Glu1969Gly) n.572A>G | gnomAD v4 |
| 8 | g.47862386T>G | CA371162153 | PRKDC | c.5906A>C (p.Glu1969Ala) n.572A>C | |
| 8 | g.47862387C>A | CA371162154 | PRKDC | c.5905G>T (p.Glu1969Ter) n.571G>T | |
| 8 | g.47862387C>G | CA371162155 | PRKDC | c.5905G>C (p.Glu1969Gln) n.571G>C |