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.155022371_155022456del | CA2695238515 | F8 | c.99_143+41del c.99_121+63del c.38+4326_38+4411del (n.38+4326_38+4411del) c.81_125+41del | |
| X | g.155022410_155022723del | CA1139532180 | F8 | c.-170_143+1del c.38+4058_38+4371del (n.38+4058_38+4371del) c.39-226_125+1del | |
| X | g.155022445_155022457delinsCATATAGTCCCAT | CA2466865415 | F8 | c.96_108delinsATGGGACTATATG (p.Ser32=) c.38+4323_38+4335delinsATGGGACTATATG (n.38+4323_38+4335delinsATGGGACTATATG) c.78_90delinsATGGGACTATATG (p.Ser26=) | |
| X | g.155022446A= | CA2466865416 | F8 | c.107T= (p.Met36=) c.38+4334T= (n.38+4334T=) c.89T= (p.Met30=) | |
| X | g.155022446A>C | CA414920507 | F8 | c.107T>G (p.Met36Arg) c.38+4334T>G (n.38+4334T>G) c.89T>G (p.Met30Arg) | |
| X | g.155022446A>G | CA414920508 | F8 | c.107T>C (p.Met36Thr) c.38+4334T>C (n.38+4334T>C) c.89T>C (p.Met30Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.155022446A>T | CA414920509 | F8 | c.107T>A (p.Met36Lys) c.38+4334T>A (n.38+4334T>A) c.89T>A (p.Met30Lys) | |
| X | g.155022449_155022450del | CA2695238525 | F8 | c.106_107del (p.Met36AlafsTer3) c.38+4333_38+4334del (n.38+4333_38+4334del) c.88_89del (p.Met30AlafsTer3) | |
| X | g.155022446_155022457del | CA873367304 | F8 | c.96_107del (p.Trp33_Met36del) c.38+4323_38+4334del (n.38+4323_38+4334del) c.78_89del (p.Trp27_Met30del) | dbSNP |
| X | g.155022447T>A | CA414920510 | F8 | c.106A>T (p.Met36Leu) c.38+4333A>T (n.38+4333A>T) c.88A>T (p.Met30Leu) | |
| X | g.155022447T>C | CA414920511 | F8 | c.106A>G (p.Met36Val) c.38+4333A>G (n.38+4333A>G) c.88A>G (p.Met30Val) | |
| X | g.155022447T>G | CA414920512 | F8 | c.106A>C (p.Met36Leu) c.38+4333A>C (n.38+4333A>C) c.88A>C (p.Met30Leu) | |
| X | g.155022448A= | CA2466865417 | F8 | c.105T= (p.Tyr35=) c.38+4332T= (n.38+4332T=) c.87T= (p.Tyr29=) | |
| X | g.155022448A>C | CA414920513 | F8 | c.105T>G (p.Tyr35Ter) c.38+4332T>G (n.38+4332T>G) c.87T>G (p.Tyr29Ter) | |
| X | g.155022448A>G | CA519388503 | F8 | c.105T>C (p.Tyr35=) c.38+4332T>C (n.38+4332T>C) c.87T>C (p.Tyr29=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.155022448A>T | CA414920514 | F8 | c.105T>A (p.Tyr35Ter) c.38+4332T>A (n.38+4332T>A) c.87T>A (p.Tyr29Ter) | |
| X | g.155022449T>A | CA414920516 | F8 | c.104A>T (p.Tyr35Phe) c.38+4331A>T (n.38+4331A>T) c.86A>T (p.Tyr29Phe) | |
| X | g.155022449T>C | CA255228 | F8 | c.104A>G (p.Tyr35Cys) c.38+4331A>G (n.38+4331A>G) c.86A>G (p.Tyr29Cys) | ClinVar dbSNP |
| X | g.155022449T>G | CA414920515 | F8 | c.104A>C (p.Tyr35Ser) c.38+4331A>C (n.38+4331A>C) c.86A>C (p.Tyr29Ser) | |
| X | g.155022449T= | CA2466865418 | F8 | c.104A= (p.Tyr35=) c.38+4331A= (n.38+4331A=) c.86A= (p.Tyr29=) | |
| X | g.155022450A>C | CA414920517 | F8 | c.103T>G (p.Tyr35Asp) c.38+4330T>G (n.38+4330T>G) c.85T>G (p.Tyr29Asp) | |
| X | g.155022450A>G | CA414920518 | F8 | c.103T>C (p.Tyr35His) c.38+4330T>C (n.38+4330T>C) c.85T>C (p.Tyr29His) | |
| X | g.155022450A>T | CA414920519 | F8 | c.103T>A (p.Tyr35Asn) c.38+4330T>A (n.38+4330T>A) c.85T>A (p.Tyr29Asn) | |
| X | g.155022451G>A | CA10568646 | F8 | c.102C>T (p.Asp34=) c.38+4329C>T (n.38+4329C>T) c.84C>T (p.Asp28=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.155022451G>C | CA414920520 | F8 | c.102C>G (p.Asp34Glu) c.38+4329C>G (n.38+4329C>G) c.84C>G (p.Asp28Glu) | ClinVar |
| X | g.155022451G= | CA2466865419 | F8 | c.102C= (p.Asp34=) c.38+4329C= (n.38+4329C=) c.84C= (p.Asp28=) | |
| X | g.155022451G>T | CA414920521 | F8 | c.102C>A (p.Asp34Glu) c.38+4329C>A (n.38+4329C>A) c.84C>A (p.Asp28Glu) | |
| X | g.155022452T>A | CA414920522 | F8 | c.101A>T (p.Asp34Val) c.38+4328A>T (n.38+4328A>T) c.83A>T (p.Asp28Val) | ClinVar dbSNP |
| X | g.155022452T>C | CA414920523 | F8 | c.101A>G (p.Asp34Gly) c.38+4328A>G (n.38+4328A>G) c.83A>G (p.Asp28Gly) | |
| X | g.155022452T>G | CA414920524 | F8 | c.101A>C (p.Asp34Ala) c.38+4328A>C (n.38+4328A>C) c.83A>C (p.Asp28Ala) | |
| X | g.155022452T= | CA2466865420 | F8 | c.101A= (p.Asp34=) c.38+4328A= (n.38+4328A=) c.83A= (p.Asp28=) | |
| X | g.155022453C>A | CA414920525 | F8 | c.100G>T (p.Asp34Tyr) c.38+4327G>T (n.38+4327G>T) c.82G>T (p.Asp28Tyr) | |
| X | g.155022453C= | CA2466865421 | F8 | c.100G= (p.Asp34=) c.38+4327G= (n.38+4327G=) c.82G= (p.Asp28=) | |
| X | g.155022453C>G | CA414920526 | F8 | c.100G>C (p.Asp34His) c.38+4327G>C (n.38+4327G>C) c.82G>C (p.Asp28His) | |
| X | g.155022453C>T | CA414920527 | F8 | c.100G>A (p.Asp34Asn) c.38+4327G>A (n.38+4327G>A) c.82G>A (p.Asp28Asn) | dbSNP |
| X | g.155022455del | CA2695238527 | F8 | c.100del (p.Asp34ThrfsTer?) c.100del (p.Asp34ThrfsTer11) c.38+4327del (n.38+4327del) c.82del (p.Asp28ThrfsTer?) | |
| X | g.155022454C>A | CA414920529 | F8 | c.99G>T (p.Trp33Cys) c.38+4326G>T (n.38+4326G>T) c.81G>T (p.Trp27Cys) | |
| X | g.155022454C= | CA2466865422 | F8 | c.99G= (p.Trp33=) c.38+4326G= (n.38+4326G=) c.81G= (p.Trp27=) | |
| X | g.155022454C>G | CA414920530 | F8 | c.99G>C (p.Trp33Cys) c.38+4326G>C (n.38+4326G>C) c.81G>C (p.Trp27Cys) | |
| X | g.155022454C>T | CA414920528 | F8 | c.99G>A (p.Trp33Ter) c.38+4326G>A (n.38+4326G>A) c.81G>A (p.Trp27Ter) | dbSNP |
| X | g.155022454_155022458delinsACTTTGCAT | CA2695238528 | F8 | c.95_99delinsATGCAAAGT (p.Ser32TyrfsTer4) c.38+4322_38+4326delinsATGCAAAGT (n.38+4322_38+4326delinsATGCAAAGT) c.77_81delinsATGCAAAGT (p.Ser26TyrfsTer4) | |
| X | g.155022455C>A | CA414920532 | F8 | c.98G>T (p.Trp33Leu) c.38+4325G>T (n.38+4325G>T) c.80G>T (p.Trp27Leu) | |
| X | g.155022455C>G | CA414920531 | F8 | c.98G>C (p.Trp33Ser) c.38+4325G>C (n.38+4325G>C) c.80G>C (p.Trp27Ser) | |
| X | g.155022455C>T | CA414920533 | F8 | c.98G>A (p.Trp33Ter) c.38+4325G>A (n.38+4325G>A) c.80G>A (p.Trp27Ter) | |
| X | g.155022456A>C | CA414920534 | F8 | c.97T>G (p.Trp33Gly) c.38+4324T>G (n.38+4324T>G) c.79T>G (p.Trp27Gly) | |
| X | g.155022456A>G | CA414920536 | F8 | c.97T>C (p.Trp33Arg) c.38+4324T>C (n.38+4324T>C) c.79T>C (p.Trp27Arg) | |
| X | g.155022456A>T | CA414920535 | F8 | c.97T>A (p.Trp33Arg) c.38+4324T>A (n.38+4324T>A) c.79T>A (p.Trp27Arg) | |
| X | g.155022457T>A | CA519388556 | F8 | c.96A>T (p.Ser32=) c.38+4323A>T (n.38+4323A>T) c.78A>T (p.Ser26=) | |
| X | g.155022457T>C | CA519388558 | F8 | c.96A>G (p.Ser32=) c.38+4323A>G (n.38+4323A>G) c.78A>G (p.Ser26=) | gnomAD v4 |
| X | g.155022457T>G | CA519388561 | F8 | c.96A>C (p.Ser32=) c.38+4323A>C (n.38+4323A>C) c.78A>C (p.Ser26=) |