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.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.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.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=) | |
| X | g.155022457dup | CA2695238530 | F8 | c.96dup (p.Trp33MetfsTer7) c.38+4323dup (n.38+4323dup) c.78dup (p.Trp27MetfsTer7) | |
| X | g.155022458del | CA2695238532 | F8 | c.95del (p.Ser32TyrfsTer?) c.95del (p.Ser32TyrfsTer13) c.38+4322del (n.38+4322del) c.77del (p.Ser26TyrfsTer?) | |
| X | g.155022458G>A | CA414920537 | F8 | c.95C>T (p.Ser32Leu) c.38+4322C>T (n.38+4322C>T) c.77C>T (p.Ser26Leu) | COSMIC COSMIC |
| X | g.155022458G>C | CA414920539 | F8 | c.95C>G (p.Ser32Ter) c.38+4322C>G (n.38+4322C>G) c.77C>G (p.Ser26Ter) | |
| X | g.155022458G>T | CA414920538 | F8 | c.95C>A (p.Ser32Ter) c.38+4322C>A (n.38+4322C>A) c.77C>A (p.Ser26Ter) | |
| X | g.155022459A>C | CA414920540 | F8 | c.94T>G (p.Ser32Ala) c.38+4321T>G (n.38+4321T>G) c.76T>G (p.Ser26Ala) | |
| X | g.155022459A>G | CA414920541 | F8 | c.94T>C (p.Ser32Pro) c.38+4321T>C (n.38+4321T>C) c.76T>C (p.Ser26Pro) | |
| X | g.155022459A>T | CA414920542 | F8 | c.94T>A (p.Ser32Thr) c.38+4321T>A (n.38+4321T>A) c.76T>A (p.Ser26Thr) | |
| X | g.155022460C>A | CA519388578 | F8 | c.93G>T (p.Leu31=) c.38+4320G>T (n.38+4320G>T) c.75G>T (p.Leu25=) | |
| X | g.155022460C>G | CA519388585 | F8 | c.93G>C (p.Leu31=) c.38+4320G>C (n.38+4320G>C) c.75G>C (p.Leu25=) | |
| X | g.155022460C>T | CA519388588 | F8 | c.93G>A (p.Leu31=) c.38+4320G>A (n.38+4320G>A) c.75G>A (p.Leu25=) | gnomAD v4 |
| X | g.155022461A= | CA2466865423 | F8 | c.92T= (p.Leu31=) c.38+4319T= (n.38+4319T=) c.74T= (p.Leu25=) | |
| X | g.155022461A>C | CA414920543 | F8 | c.92T>G (p.Leu31Arg) c.38+4319T>G (n.38+4319T>G) c.74T>G (p.Leu25Arg) | |
| X | g.155022461A>G | CA414920544 | F8 | c.92T>C (p.Leu31Pro) c.38+4319T>C (n.38+4319T>C) c.74T>C (p.Leu25Pro) | dbSNP |
| X | g.155022461A>T | CA414920545 | F8 | c.92T>A (p.Leu31Gln) c.38+4319T>A (n.38+4319T>A) c.74T>A (p.Leu25Gln) | |
| X | g.155022462G>A | CA519388597 | F8 | c.91C>T (p.Leu31=) c.38+4318C>T (n.38+4318C>T) c.73C>T (p.Leu25=) | |
| X | g.155022462G>C | CA414920546 | F8 | c.91C>G (p.Leu31Val) c.38+4318C>G (n.38+4318C>G) c.73C>G (p.Leu25Val) | |
| X | g.155022462G>T | CA414920547 | F8 | c.91C>A (p.Leu31Met) c.38+4318C>A (n.38+4318C>A) c.73C>A (p.Leu25Met) | |
| X | g.155022463T>A | CA414920548 | F8 | c.90A>T (p.Glu30Asp) c.38+4317A>T (n.38+4317A>T) c.72A>T (p.Glu24Asp) | |
| X | g.155022463T>C | CA519388606 | F8 | c.90A>G (p.Glu30=) c.38+4317A>G (n.38+4317A>G) c.72A>G (p.Glu24=) | |
| X | g.155022463T>G | CA414920549 | F8 | c.90A>C (p.Glu30Asp) c.38+4317A>C (n.38+4317A>C) c.72A>C (p.Glu24Asp) | |
| X | g.155022464dup | CA2695238534 | F8 | c.90dup (p.Leu31ThrfsTer9) c.38+4317dup (n.38+4317dup) c.72dup (p.Leu25ThrfsTer9) | |
| X | g.155022464T>A | CA255047 | F8 | c.89A>T (p.Glu30Val) c.38+4316A>T (n.38+4316A>T) c.71A>T (p.Glu24Val) | ClinVar dbSNP |
| X | g.155022464T>C | CA414920550 | F8 | c.89A>G (p.Glu30Gly) c.38+4316A>G (n.38+4316A>G) c.71A>G (p.Glu24Gly) | ClinVar dbSNP |
| X | g.155022464T>G | CA414920551 | F8 | c.89A>C (p.Glu30Ala) c.38+4316A>C (n.38+4316A>C) c.71A>C (p.Glu24Ala) | |
| X | g.155022464T= | CA2466865424 | F8 | c.89A= (p.Glu30=) c.38+4316A= (n.38+4316A=) c.71A= (p.Glu24=) | |
| X | g.155022465C>A | CA414920552 | F8 | c.88G>T (p.Glu30Ter) c.38+4315G>T (n.38+4315G>T) c.70G>T (p.Glu24Ter) | |
| X | g.155022465C= | CA2466865425 | F8 | c.88G= (p.Glu30=) c.38+4315G= (n.38+4315G=) c.70G= (p.Glu24=) | |
| X | g.155022465C>G | CA414920553 | F8 | c.88G>C (p.Glu30Gln) c.38+4315G>C (n.38+4315G>C) c.70G>C (p.Glu24Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.155022465C>T | CA414920554 | F8 | c.88G>A (p.Glu30Lys) c.38+4315G>A (n.38+4315G>A) c.70G>A (p.Glu24Lys) | dbSNP |
| X | g.155022465_155022470delinsCCACTG | CA2466865426 | F8 | c.83_88delinsCAGTGG (p.Ala28=) c.38+4310_38+4315delinsCAGTGG (n.38+4310_38+4315delinsCAGTGG) c.65_70delinsCAGTGG (p.Ala22=) | |
| X | g.155022467_155022474del | CA2695238536 | F8 | c.81_88del (p.Ala28ThrfsTer9) c.38+4308_38+4315del (n.38+4308_38+4315del) c.63_70del (p.Ala22ThrfsTer9) | |
| X | g.155022466C>A | CA519388621 | F8 | c.87G>T (p.Val29=) c.38+4314G>T (n.38+4314G>T) c.69G>T (p.Val23=) | |
| X | g.155022466C>G | CA519388625 | F8 | c.87G>C (p.Val29=) c.38+4314G>C (n.38+4314G>C) c.69G>C (p.Val23=) | |
| X | g.155022466C>T | CA519388629 | F8 | c.87G>A (p.Val29=) c.38+4314G>A (n.38+4314G>A) c.69G>A (p.Val23=) | |
| X | g.155022469_155022473del | CA915952172 | F8 | c.83_87del (p.Ala28GlyfsTer10) c.38+4310_38+4314del (n.38+4310_38+4314del) c.65_69del (p.Ala22GlyfsTer10) | ClinVar dbSNP |
| X | g.155022467A>C | CA414920555 | F8 | c.86T>G (p.Val29Gly) c.38+4313T>G (n.38+4313T>G) c.68T>G (p.Val23Gly) | |
| X | g.155022467A>G | CA414920556 | F8 | c.86T>C (p.Val29Ala) c.38+4313T>C (n.38+4313T>C) c.68T>C (p.Val23Ala) | |
| X | g.155022467A>T | CA414920557 | F8 | c.86T>A (p.Val29Glu) c.38+4313T>A (n.38+4313T>A) c.68T>A (p.Val23Glu) |