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 |
|---|---|---|---|---|---|
| X | g.67717495_67717503del | CA2580101282 | AR | c.*539_*547del (n.*539_*547del) c.2191_2199del (p.Val731_Asp733del) c.818_826del (n.818_826del) c.2173+5806_2173+5814del (n.2173+5806_2173+5814del) c.595_603del (p.Val199_Asp201del) c.1621_1629del (p.Val541_Asp543del) | ClinVar |
| X | g.67717500C>A | CA413424364 | AR | c.*544C>A (n.*544C>A) c.2196C>A (p.Asp732Glu) c.823C>A (n.823C>A) c.2173+5811C>A (n.2173+5811C>A) c.600C>A (p.Asp200Glu) c.1626C>A (p.Asp542Glu) | dbSNP gnomAD v4 |
| X | g.67717500C= | CA2435132633 | AR | c.*544C= (n.*544C=) c.2196C= (p.Asp732=) c.823C= (n.823C=) c.2173+5811C= (n.2173+5811C=) c.600C= (p.Asp200=) c.1626C= (p.Asp542=) | |
| X | g.67717500C>G | CA413424366 | AR | c.*544C>G (n.*544C>G) c.2196C>G (p.Asp732Glu) c.823C>G (n.823C>G) c.2173+5811C>G (n.2173+5811C>G) c.600C>G (p.Asp200Glu) c.1626C>G (p.Asp542Glu) | dbSNP |
| X | g.67717500C>T | CA10436603 | AR | c.*544C>T (n.*544C>T) c.2196C>T (p.Asp732=) c.823C>T (n.823C>T) c.2173+5811C>T (n.2173+5811C>T) c.600C>T (p.Asp200=) c.1626C>T (p.Asp542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67717501G>A | CA413424370 | AR | c.*545G>A (n.*545G>A) c.2197G>A (p.Asp733Asn) c.824G>A (n.824G>A) c.2173+5812G>A (n.2173+5812G>A) c.601G>A (p.Asp201Asn) c.1627G>A (p.Asp543Asn) | ClinVar dbSNP COSMIC COSMIC |
| X | g.67717501G>C | CA413424372 | AR | c.*545G>C (n.*545G>C) c.2197G>C (p.Asp733His) c.824G>C (n.824G>C) c.2173+5812G>C (n.2173+5812G>C) c.601G>C (p.Asp201His) c.1627G>C (p.Asp543His) | dbSNP |
| X | g.67717501G>T | CA413424375 | AR | c.*545G>T (n.*545G>T) c.2197G>T (p.Asp733Tyr) c.824G>T (n.824G>T) c.2173+5812G>T (n.2173+5812G>T) c.601G>T (p.Asp201Tyr) c.1627G>T (p.Asp543Tyr) | |
| X | g.67717502A>C | CA413424378 | AR | c.*546A>C (n.*546A>C) c.2198A>C (p.Asp733Ala) c.825A>C (n.825A>C) c.2173+5813A>C (n.2173+5813A>C) c.602A>C (p.Asp201Ala) c.1628A>C (p.Asp543Ala) | |
| X | g.67717502A>G | CA413424380 | AR | c.*546A>G (n.*546A>G) c.2198A>G (p.Asp733Gly) c.825A>G (n.825A>G) c.2173+5813A>G (n.2173+5813A>G) c.602A>G (p.Asp201Gly) c.1628A>G (p.Asp543Gly) | |
| X | g.67717502A>T | CA413424382 | AR | c.*546A>T (n.*546A>T) c.2198A>T (p.Asp733Val) c.825A>T (n.825A>T) c.2173+5813A>T (n.2173+5813A>T) c.602A>T (p.Asp201Val) c.1628A>T (p.Asp543Val) | |
| X | g.67717503C>A | CA413424385 | AR | c.*547C>A (n.*547C>A) c.2199C>A (p.Asp733Glu) c.826C>A (n.826C>A) c.2173+5814C>A (n.2173+5814C>A) c.603C>A (p.Asp201Glu) c.1629C>A (p.Asp543Glu) | |
| X | g.67717503C>G | CA413424387 | AR | c.*547C>G (n.*547C>G) c.2199C>G (p.Asp733Glu) c.826C>G (n.826C>G) c.2173+5814C>G (n.2173+5814C>G) c.603C>G (p.Asp201Glu) c.1629C>G (p.Asp543Glu) | dbSNP COSMIC COSMIC |
| X | g.67717503C>T | CA516970342 | AR | c.*547C>T (n.*547C>T) c.2199C>T (p.Asp733=) c.826C>T (n.826C>T) c.2173+5814C>T (n.2173+5814C>T) c.603C>T (p.Asp201=) c.1629C>T (p.Asp543=) | dbSNP gnomAD v4 COSMIC |
| X | g.67717504C>A | CA413424389 | AR | c.*548C>A (n.*548C>A) c.2200C>A (p.Gln734Lys) c.827C>A (n.827C>A) c.2173+5815C>A (n.2173+5815C>A) c.604C>A (p.Gln202Lys) c.1630C>A (p.Gln544Lys) | dbSNP |
| X | g.67717504C>G | CA413424391 | AR | c.*548C>G (n.*548C>G) c.2200C>G (p.Gln734Glu) c.827C>G (n.827C>G) c.2173+5815C>G (n.2173+5815C>G) c.604C>G (p.Gln202Glu) c.1630C>G (p.Gln544Glu) | dbSNP |
| X | g.67717504C>T | CA413424393 | AR | c.*548C>T (n.*548C>T) c.2200C>T (p.Gln734Ter) c.827C>T (n.827C>T) c.2173+5815C>T (n.2173+5815C>T) c.604C>T (p.Gln202Ter) c.1630C>T (p.Gln544Ter) | dbSNP |
| X | g.67717505A>C | CA413424397 | AR | c.*549A>C (n.*549A>C) c.2201A>C (p.Gln734Pro) c.828A>C (n.828A>C) c.2173+5816A>C (n.2173+5816A>C) c.605A>C (p.Gln202Pro) c.1631A>C (p.Gln544Pro) | |
| X | g.67717505A>G | CA413424399 | AR | c.*549A>G (n.*549A>G) c.2201A>G (p.Gln734Arg) c.828A>G (n.828A>G) c.2173+5816A>G (n.2173+5816A>G) c.605A>G (p.Gln202Arg) c.1631A>G (p.Gln544Arg) | dbSNP gnomAD v4 |
| X | g.67717505A>T | CA413424400 | AR | c.*549A>T (n.*549A>T) c.2201A>T (p.Gln734Leu) c.828A>T (n.828A>T) c.2173+5816A>T (n.2173+5816A>T) c.605A>T (p.Gln202Leu) c.1631A>T (p.Gln544Leu) | dbSNP |
| X | g.67717506G>A | CA516970343 | AR | c.*550G>A (n.*550G>A) c.2202G>A (p.Gln734=) c.829G>A (n.829G>A) c.2173+5817G>A (n.2173+5817G>A) c.606G>A (p.Gln202=) c.1632G>A (p.Gln544=) | dbSNP |
| X | g.67717506G>C | CA413424405 | AR | c.*550G>C (n.*550G>C) c.2202G>C (p.Gln734His) c.829G>C (n.829G>C) c.2173+5817G>C (n.2173+5817G>C) c.606G>C (p.Gln202His) c.1632G>C (p.Gln544His) | dbSNP COSMIC COSMIC |
| X | g.67717506G>T | CA413424403 | AR | c.*550G>T (n.*550G>T) c.2202G>T (p.Gln734His) c.829G>T (n.829G>T) c.2173+5817G>T (n.2173+5817G>T) c.606G>T (p.Gln202His) c.1632G>T (p.Gln544His) | |
| X | g.67717507A>C | CA413424408 | AR | c.*551A>C (n.*551A>C) c.2203A>C (p.Met735Leu) c.830A>C (n.830A>C) c.2173+5818A>C (n.2173+5818A>C) c.607A>C (p.Met203Leu) c.1633A>C (p.Met545Leu) | |
| X | g.67717507A>G | CA413424410 | AR | c.*551A>G (n.*551A>G) c.2203A>G (p.Met735Val) c.830A>G (n.830A>G) c.2173+5818A>G (n.2173+5818A>G) c.607A>G (p.Met203Val) c.1633A>G (p.Met545Val) | |
| X | g.67717507A>T | CA413424412 | AR | c.*551A>T (n.*551A>T) c.2203A>T (p.Met735Leu) c.830A>T (n.830A>T) c.2173+5818A>T (n.2173+5818A>T) c.607A>T (p.Met203Leu) c.1633A>T (p.Met545Leu) | |
| X | g.67717508T>A | CA413424415 | AR | c.*552T>A (n.*552T>A) c.2204T>A (p.Met735Lys) c.831T>A (n.831T>A) c.2173+5819T>A (n.2173+5819T>A) c.608T>A (p.Met203Lys) c.1634T>A (p.Met545Lys) | |
| X | g.67717508T>C | CA330771842 | AR | c.*552T>C (n.*552T>C) c.2204T>C (p.Met735Thr) c.831T>C (n.831T>C) c.2173+5819T>C (n.2173+5819T>C) c.608T>C (p.Met203Thr) c.1634T>C (p.Met545Thr) | dbSNP gnomAD v4 |
| X | g.67717508T>G | CA413424418 | AR | c.*552T>G (n.*552T>G) c.2204T>G (p.Met735Arg) c.831T>G (n.831T>G) c.2173+5819T>G (n.2173+5819T>G) c.608T>G (p.Met203Arg) c.1634T>G (p.Met545Arg) | dbSNP |
| X | g.67717508T= | CA2435132634 | AR | c.*552T= (n.*552T=) c.2204T= (p.Met735=) c.831T= (n.831T=) c.2173+5819T= (n.2173+5819T=) c.608T= (p.Met203=) c.1634T= (p.Met545=) | |
| X | g.67717509G>A | CA413424420 | AR | c.*553G>A (n.*553G>A) c.2205G>A (p.Met735Ile) c.832G>A (n.832G>A) c.2173+5820G>A (n.2173+5820G>A) c.609G>A (p.Met203Ile) c.1635G>A (p.Met545Ile) | dbSNP gnomAD v4 |
| X | g.67717509G>C | CA413424424 | AR | c.*553G>C (n.*553G>C) c.2205G>C (p.Met735Ile) c.832G>C (n.832G>C) c.2173+5820G>C (n.2173+5820G>C) c.609G>C (p.Met203Ile) c.1635G>C (p.Met545Ile) | dbSNP |
| X | g.67717509G>T | CA413424422 | AR | c.*553G>T (n.*553G>T) c.2205G>T (p.Met735Ile) c.832G>T (n.832G>T) c.2173+5820G>T (n.2173+5820G>T) c.609G>T (p.Met203Ile) c.1635G>T (p.Met545Ile) | |
| X | g.67717510G>A | CA10436604 | AR | c.*554G>A (n.*554G>A) c.2206G>A (p.Ala736Thr) c.833G>A (n.833G>A) c.2173+5821G>A (n.2173+5821G>A) c.610G>A (p.Ala204Thr) c.1636G>A (p.Ala546Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67717510G>C | CA413424428 | AR | c.*554G>C (n.*554G>C) c.2206G>C (p.Ala736Pro) c.833G>C (n.833G>C) c.2173+5821G>C (n.2173+5821G>C) c.610G>C (p.Ala204Pro) c.1636G>C (p.Ala546Pro) | dbSNP COSMIC COSMIC |
| X | g.67717510G= | CA2435132635 | AR | c.*554G= (n.*554G=) c.2206G= (p.Ala736=) c.833G= (n.833G=) c.2173+5821G= (n.2173+5821G=) c.610G= (p.Ala204=) c.1636G= (p.Ala546=) | |
| X | g.67717510G>T | CA413424430 | AR | c.*554G>T (n.*554G>T) c.2206G>T (p.Ala736Ser) c.833G>T (n.833G>T) c.2173+5821G>T (n.2173+5821G>T) c.610G>T (p.Ala204Ser) c.1636G>T (p.Ala546Ser) | dbSNP |
| X | g.67717511C>A | CA413424433 | AR | c.*555C>A (n.*555C>A) c.2207C>A (p.Ala736Asp) c.834C>A (n.834C>A) c.2173+5822C>A (n.2173+5822C>A) c.611C>A (p.Ala204Asp) c.1637C>A (p.Ala546Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.67717511C= | CA2435132636 | AR | c.*555C= (n.*555C=) c.2207C= (p.Ala736=) c.834C= (n.834C=) c.2173+5822C= (n.2173+5822C=) c.611C= (p.Ala204=) c.1637C= (p.Ala546=) | |
| X | g.67717511C>G | CA413424436 | AR | c.*555C>G (n.*555C>G) c.2207C>G (p.Ala736Gly) c.834C>G (n.834C>G) c.2173+5822C>G (n.2173+5822C>G) c.611C>G (p.Ala204Gly) c.1637C>G (p.Ala546Gly) | dbSNP |
| X | g.67717511C>T | CA10436605 | AR | c.*555C>T (n.*555C>T) c.2207C>T (p.Ala736Val) c.834C>T (n.834C>T) c.2173+5822C>T (n.2173+5822C>T) c.611C>T (p.Ala204Val) c.1637C>T (p.Ala546Val) | dbSNP ExAC gnomAD v2 |
| X | g.67717512T>A | CA516970344 | AR | c.*556T>A (n.*556T>A) c.2208T>A (p.Ala736=) c.835T>A (n.835T>A) c.2173+5823T>A (n.2173+5823T>A) c.612T>A (p.Ala204=) c.1638T>A (p.Ala546=) | |
| X | g.67717512T>C | CA516970345 | AR | c.*556T>C (n.*556T>C) c.2208T>C (p.Ala736=) c.835T>C (n.835T>C) c.2173+5823T>C (n.2173+5823T>C) c.612T>C (p.Ala204=) c.1638T>C (p.Ala546=) | dbSNP |
| X | g.67717512T>G | CA516970346 | AR | c.*556T>G (n.*556T>G) c.2208T>G (p.Ala736=) c.835T>G (n.835T>G) c.2173+5823T>G (n.2173+5823T>G) c.612T>G (p.Ala204=) c.1638T>G (p.Ala546=) | |
| X | g.67717513G>A | CA413424440 | AR | c.*557G>A (n.*557G>A) c.2209G>A (p.Val737Ile) c.836G>A (n.836G>A) c.2173+5824G>A (n.2173+5824G>A) c.613G>A (p.Val205Ile) c.1639G>A (p.Val547Ile) | dbSNP |
| X | g.67717513G>C | CA413424442 | AR | c.*557G>C (n.*557G>C) c.2209G>C (p.Val737Leu) c.836G>C (n.836G>C) c.2173+5824G>C (n.2173+5824G>C) c.613G>C (p.Val205Leu) c.1639G>C (p.Val547Leu) | dbSNP |
| X | g.67717513G>T | CA413424444 | AR | c.*557G>T (n.*557G>T) c.2209G>T (p.Val737Phe) c.836G>T (n.836G>T) c.2173+5824G>T (n.2173+5824G>T) c.613G>T (p.Val205Phe) c.1639G>T (p.Val547Phe) | |
| X | g.67717514T>A | CA413424446 | AR | c.*558T>A (n.*558T>A) c.2210T>A (p.Val737Asp) c.837T>A (n.837T>A) c.2173+5825T>A (n.2173+5825T>A) c.614T>A (p.Val205Asp) c.1640T>A (p.Val547Asp) | dbSNP |
| X | g.67717514T>C | CA413424448 | AR | c.*558T>C (n.*558T>C) c.2210T>C (p.Val737Ala) c.837T>C (n.837T>C) c.2173+5825T>C (n.2173+5825T>C) c.614T>C (p.Val205Ala) c.1640T>C (p.Val547Ala) | dbSNP |
| X | g.67717514T>G | CA413424449 | AR | c.*558T>G (n.*558T>G) c.2210T>G (p.Val737Gly) c.837T>G (n.837T>G) c.2173+5825T>G (n.2173+5825T>G) c.614T>G (p.Val205Gly) c.1640T>G (p.Val547Gly) | dbSNP |