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 |
|---|---|---|---|---|---|
| 2 | g.21007201A= | CA2493475146 | APOB | c.9667T= (p.Tyr3223=) c.5869+3532T= (n.5869+3532T=) | |
| 2 | g.21007201A>C | CA345989250 | APOB | c.9667T>G (p.Tyr3223Asp) c.5869+3532T>G (n.5869+3532T>G) | |
| 2 | g.21007201A>G | CA345989251 | APOB | c.9667T>C (p.Tyr3223His) c.5869+3532T>C (n.5869+3532T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.21007201A>T | CA345989252 | APOB | c.9667T>A (p.Tyr3223Asn) c.5869+3532T>A (n.5869+3532T>A) | |
| 2 | g.21007202G>A | CA425344154 | APOB | c.9666C>T (p.Ser3222=) c.5869+3531C>T (n.5869+3531C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007202G>C | CA425344155 | APOB | c.9666C>G (p.Ser3222=) c.5869+3531C>G (n.5869+3531C>G) | |
| 2 | g.21007202G= | CA2493475147 | APOB | c.9666C= (p.Ser3222=) c.5869+3531C= (n.5869+3531C=) | |
| 2 | g.21007202G>T | CA425344156 | APOB | c.9666C>A (p.Ser3222=) c.5869+3531C>A (n.5869+3531C>A) | |
| 2 | g.21007203G>A | CA345989253 | APOB | c.9665C>T (p.Ser3222Phe) c.5869+3530C>T (n.5869+3530C>T) | COSMIC |
| 2 | g.21007203G>C | CA345989254 | APOB | c.9665C>G (p.Ser3222Cys) c.5869+3530C>G (n.5869+3530C>G) | dbSNP gnomAD v4 |
| 2 | g.21007203G= | CA2493475148 | APOB | c.9665C= (p.Ser3222=) c.5869+3530C= (n.5869+3530C=) | |
| 2 | g.21007203G>T | CA345989255 | APOB | c.9665C>A (p.Ser3222Tyr) c.5869+3530C>A (n.5869+3530C>A) | |
| 2 | g.21007204A= | CA2493475149 | APOB | c.9664T= (p.Ser3222=) c.5869+3529T= (n.5869+3529T=) | |
| 2 | g.21007204A>C | CA345989256 | APOB | c.9664T>G (p.Ser3222Ala) c.5869+3529T>G (n.5869+3529T>G) | |
| 2 | g.21007204A>G | CA066739 | APOB | c.9664T>C (p.Ser3222Pro) c.5869+3529T>C (n.5869+3529T>C) | dbSNP ExAC gnomAD v2 |
| 2 | g.21007204A>T | CA345989257 | APOB | c.9664T>A (p.Ser3222Thr) c.5869+3529T>A (n.5869+3529T>A) | |
| 2 | g.21007205T>A | CA345989258 | APOB | c.9663A>T (p.Lys3221Asn) c.5869+3528A>T (n.5869+3528A>T) | |
| 2 | g.21007205T>C | CA425344159 | APOB | c.9663A>G (p.Lys3221=) c.5869+3528A>G (n.5869+3528A>G) | |
| 2 | g.21007205T>G | CA345989259 | APOB | c.9663A>C (p.Lys3221Asn) c.5869+3528A>C (n.5869+3528A>C) | |
| 2 | g.21007206T>A | CA345989260 | APOB | c.9662A>T (p.Lys3221Ile) c.5869+3527A>T (n.5869+3527A>T) | |
| 2 | g.21007206T>C | CA345989262 | APOB | c.9662A>G (p.Lys3221Arg) c.5869+3527A>G (n.5869+3527A>G) | |
| 2 | g.21007206T>G | CA345989261 | APOB | c.9662A>C (p.Lys3221Thr) c.5869+3527A>C (n.5869+3527A>C) | |
| 2 | g.21007207T>A | CA345989263 | APOB | c.9661A>T (p.Lys3221Ter) c.5869+3526A>T (n.5869+3526A>T) | |
| 2 | g.21007207T>C | CA345989265 | APOB | c.9661A>G (p.Lys3221Glu) c.5869+3526A>G (n.5869+3526A>G) | gnomAD v4 |
| 2 | g.21007207T>G | CA345989264 | APOB | c.9661A>C (p.Lys3221Gln) c.5869+3526A>C (n.5869+3526A>C) | |
| 2 | g.21007208G>A | CA425344163 | APOB | c.9660C>T (p.Thr3220=) c.5869+3525C>T (n.5869+3525C>T) | |
| 2 | g.21007208G>C | CA425344164 | APOB | c.9660C>G (p.Thr3220=) c.5869+3525C>G (n.5869+3525C>G) | |
| 2 | g.21007208G>T | CA425344165 | APOB | c.9660C>A (p.Thr3220=) c.5869+3525C>A (n.5869+3525C>A) | |
| 2 | g.21007209G>A | CA345989266 | APOB | c.9659C>T (p.Thr3220Ile) c.5869+3524C>T (n.5869+3524C>T) | gnomAD v4 |
| 2 | g.21007209G>C | CA345989267 | APOB | c.9659C>G (p.Thr3220Ser) c.5869+3524C>G (n.5869+3524C>G) | gnomAD v4 |
| 2 | g.21007209G>T | CA345989268 | APOB | c.9659C>A (p.Thr3220Asn) c.5869+3524C>A (n.5869+3524C>A) | |
| 2 | g.21007210T>A | CA345989269 | APOB | c.9658A>T (p.Thr3220Ser) c.5869+3523A>T (n.5869+3523A>T) | |
| 2 | g.21007210T>C | CA345989270 | APOB | c.9658A>G (p.Thr3220Ala) c.5869+3523A>G (n.5869+3523A>G) | |
| 2 | g.21007210T>G | CA345989271 | APOB | c.9658A>C (p.Thr3220Pro) c.5869+3523A>C (n.5869+3523A>C) | |
| 2 | g.21007211G>A | CA425344173 | APOB | c.9657C>T (p.Val3219=) c.5869+3522C>T (n.5869+3522C>T) | |
| 2 | g.21007211G>C | CA425344174 | APOB | c.9657C>G (p.Val3219=) c.5869+3522C>G (n.5869+3522C>G) | |
| 2 | g.21007211G>T | CA425344176 | APOB | c.9657C>A (p.Val3219=) c.5869+3522C>A (n.5869+3522C>A) | COSMIC |
| 2 | g.21007212A= | CA2493475150 | APOB | c.9656T= (p.Val3219=) c.5869+3521T= (n.5869+3521T=) | |
| 2 | g.21007212A>C | CA345989272 | APOB | c.9656T>G (p.Val3219Gly) c.5869+3521T>G (n.5869+3521T>G) | |
| 2 | g.21007212A>G | CA066731 | APOB | c.9656T>C (p.Val3219Ala) c.5869+3521T>C (n.5869+3521T>C) | dbSNP ExAC |
| 2 | g.21007212A>T | CA345989273 | APOB | c.9656T>A (p.Val3219Asp) c.5869+3521T>A (n.5869+3521T>A) | |
| 2 | g.21007213C>A | CA345989274 | APOB | c.9655G>T (p.Val3219Phe) c.5869+3520G>T (n.5869+3520G>T) | |
| 2 | g.21007213C= | CA2493475151 | APOB | c.9655G= (p.Val3219=) c.5869+3520G= (n.5869+3520G=) | |
| 2 | g.21007213C>G | CA345989275 | APOB | c.9655G>C (p.Val3219Leu) c.5869+3520G>C (n.5869+3520G>C) | dbSNP |
| 2 | g.21007213C>T | CA345989276 | APOB | c.9655G>A (p.Val3219Ile) c.5869+3520G>A (n.5869+3520G>A) | |
| 2 | g.21007214A>C | CA345989278 | APOB | c.9654T>G (p.Phe3218Leu) c.5869+3519T>G (n.5869+3519T>G) | |
| 2 | g.21007214A>G | CA425344180 | APOB | c.9654T>C (p.Phe3218=) c.5869+3519T>C (n.5869+3519T>C) | |
| 2 | g.21007214A>T | CA345989277 | APOB | c.9654T>A (p.Phe3218Leu) c.5869+3519T>A (n.5869+3519T>A) | gnomAD v4 |
| 2 | g.21007215A>C | CA345989279 | APOB | c.9653T>G (p.Phe3218Cys) c.5869+3518T>G (n.5869+3518T>G) | |
| 2 | g.21007215A>G | CA345989280 | APOB | c.9653T>C (p.Phe3218Ser) c.5869+3518T>C (n.5869+3518T>C) |