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 |
|---|---|---|---|---|---|
| 10 | g.68885422_68885424delinsCTT | CA1917549982 | STOX1 | c.1626_1628delinsCTT (p.Ile542=) c.1962_1964delinsCTT (p.Ile654=) c.463+3312_463+3314delinsCTT (n.463+3312_463+3314delinsCTT) c.663+963_663+965delinsCTT (n.663+963_663+965delinsCTT) c.1296_1298delinsCTT (p.Ile432=) | |
| 10 | g.68885423T>A | CA376881453 | STOX1 | c.1627T>A (p.Phe543Ile) c.1963T>A (p.Phe655Ile) c.463+3313T>A (n.463+3313T>A) c.663+964T>A (n.663+964T>A) c.1297T>A (p.Phe433Ile) | |
| 10 | g.68885423T>C | CA376881454 | STOX1 | c.1627T>C (p.Phe543Leu) c.1963T>C (p.Phe655Leu) c.463+3313T>C (n.463+3313T>C) c.663+964T>C (n.663+964T>C) c.1297T>C (p.Phe433Leu) | |
| 10 | g.68885423T>G | CA376881455 | STOX1 | c.1627T>G (p.Phe543Val) c.1963T>G (p.Phe655Val) c.463+3313T>G (n.463+3313T>G) c.663+964T>G (n.663+964T>G) c.1297T>G (p.Phe433Val) | |
| 10 | g.68885424_68885425del | CA1917549983 | STOX1 | c.1628_1629del (p.Phe543Ter) c.1964_1965del (p.Phe655Ter) c.463+3314_463+3315del (n.463+3314_463+3315del) c.663+965_663+966del (n.663+965_663+966del) c.1298_1299del (p.Phe433Ter) | dbSNP |
| 10 | g.68885424T>A | CA376881456 | STOX1 | c.1628T>A (p.Phe543Tyr) c.1964T>A (p.Phe655Tyr) c.463+3314T>A (n.463+3314T>A) c.663+965T>A (n.663+965T>A) c.1298T>A (p.Phe433Tyr) | |
| 10 | g.68885424T>C | CA376881457 | STOX1 | c.1628T>C (p.Phe543Ser) c.1964T>C (p.Phe655Ser) c.463+3314T>C (n.463+3314T>C) c.663+965T>C (n.663+965T>C) c.1298T>C (p.Phe433Ser) | gnomAD v4 |
| 10 | g.68885424T>G | CA376881458 | STOX1 | c.1628T>G (p.Phe543Cys) c.1964T>G (p.Phe655Cys) c.463+3314T>G (n.463+3314T>G) c.663+965T>G (n.663+965T>G) c.1298T>G (p.Phe433Cys) | |
| 10 | g.68885425T>A | CA376881459 | STOX1 | c.1629T>A (p.Phe543Leu) c.1965T>A (p.Phe655Leu) c.463+3315T>A (n.463+3315T>A) c.663+966T>A (n.663+966T>A) c.1299T>A (p.Phe433Leu) | |
| 10 | g.68885425T>C | CA470274511 | STOX1 | c.1629T>C (p.Phe543=) c.1965T>C (p.Phe655=) c.463+3315T>C (n.463+3315T>C) c.663+966T>C (n.663+966T>C) c.1299T>C (p.Phe433=) | |
| 10 | g.68885425T>G | CA376881460 | STOX1 | c.1629T>G (p.Phe543Leu) c.1965T>G (p.Phe655Leu) c.463+3315T>G (n.463+3315T>G) c.663+966T>G (n.663+966T>G) c.1299T>G (p.Phe433Leu) | |
| 10 | g.68885426G>A | CA376881461 | STOX1 | c.1630G>A (p.Asp544Asn) c.1966G>A (p.Asp656Asn) c.463+3316G>A (n.463+3316G>A) c.663+967G>A (n.663+967G>A) c.1300G>A (p.Asp434Asn) | |
| 10 | g.68885426G>C | CA376881462 | STOX1 | c.1630G>C (p.Asp544His) c.1966G>C (p.Asp656His) c.463+3316G>C (n.463+3316G>C) c.663+967G>C (n.663+967G>C) c.1300G>C (p.Asp434His) | |
| 10 | g.68885426G>T | CA376881463 | STOX1 | c.1630G>T (p.Asp544Tyr) c.1966G>T (p.Asp656Tyr) c.463+3316G>T (n.463+3316G>T) c.663+967G>T (n.663+967G>T) c.1300G>T (p.Asp434Tyr) | |
| 10 | g.68885427A>C | CA376881464 | STOX1 | c.1631A>C (p.Asp544Ala) c.1967A>C (p.Asp656Ala) c.463+3317A>C (n.463+3317A>C) c.663+968A>C (n.663+968A>C) c.1301A>C (p.Asp434Ala) | |
| 10 | g.68885427A>G | CA376881466 | STOX1 | c.1631A>G (p.Asp544Gly) c.1967A>G (p.Asp656Gly) c.463+3317A>G (n.463+3317A>G) c.663+968A>G (n.663+968A>G) c.1301A>G (p.Asp434Gly) | |
| 10 | g.68885427A>T | CA376881465 | STOX1 | c.1631A>T (p.Asp544Val) c.1967A>T (p.Asp656Val) c.463+3317A>T (n.463+3317A>T) c.663+968A>T (n.663+968A>T) c.1301A>T (p.Asp434Val) | |
| 10 | g.68885428T>A | CA208267992 | STOX1 | c.1632T>A (p.Asp544Glu) c.1968T>A (p.Asp656Glu) c.463+3318T>A (n.463+3318T>A) c.663+969T>A (n.663+969T>A) c.1302T>A (p.Asp434Glu) | dbSNP gnomAD v4 |
| 10 | g.68885428T>C | CA470274516 | STOX1 | c.1632T>C (p.Asp544=) c.1968T>C (p.Asp656=) c.463+3318T>C (n.463+3318T>C) c.663+969T>C (n.663+969T>C) c.1302T>C (p.Asp434=) | gnomAD v4 |
| 10 | g.68885428T>G | CA376881467 | STOX1 | c.1632T>G (p.Asp544Glu) c.1968T>G (p.Asp656Glu) c.463+3318T>G (n.463+3318T>G) c.663+969T>G (n.663+969T>G) c.1302T>G (p.Asp434Glu) | |
| 10 | g.68885428T= | CA1917549984 | STOX1 | c.1632T= (p.Asp544=) c.1968T= (p.Asp656=) c.463+3318T= (n.463+3318T=) c.663+969T= (n.663+969T=) c.1302T= (p.Asp434=) | |
| 10 | g.68885429G>A | CA376881468 | STOX1 | c.1633G>A (p.Gly545Ser) c.1969G>A (p.Gly657Ser) c.463+3319G>A (n.463+3319G>A) c.663+970G>A (n.663+970G>A) c.1303G>A (p.Gly435Ser) | dbSNP gnomAD v4 |
| 10 | g.68885429G>C | CA376881469 | STOX1 | c.1633G>C (p.Gly545Arg) c.1969G>C (p.Gly657Arg) c.463+3319G>C (n.463+3319G>C) c.663+970G>C (n.663+970G>C) c.1303G>C (p.Gly435Arg) | |
| 10 | g.68885429G= | CA1917549985 | STOX1 | c.1633G= (p.Gly545=) c.1969G= (p.Gly657=) c.463+3319G= (n.463+3319G=) c.663+970G= (n.663+970G=) c.1303G= (p.Gly435=) | |
| 10 | g.68885429G>T | CA376881470 | STOX1 | c.1633G>T (p.Gly545Cys) c.1969G>T (p.Gly657Cys) c.463+3319G>T (n.463+3319G>T) c.663+970G>T (n.663+970G>T) c.1303G>T (p.Gly435Cys) | |
| 10 | g.68885430G>A | CA376881471 | STOX1 | c.1634G>A (p.Gly545Asp) c.1970G>A (p.Gly657Asp) c.463+3320G>A (n.463+3320G>A) c.663+971G>A (n.663+971G>A) c.1304G>A (p.Gly435Asp) | |
| 10 | g.68885430G>C | CA376881472 | STOX1 | c.1634G>C (p.Gly545Ala) c.1970G>C (p.Gly657Ala) c.463+3320G>C (n.463+3320G>C) c.663+971G>C (n.663+971G>C) c.1304G>C (p.Gly435Ala) | |
| 10 | g.68885430G= | CA1917549986 | STOX1 | c.1634G= (p.Gly545=) c.1970G= (p.Gly657=) c.463+3320G= (n.463+3320G=) c.663+971G= (n.663+971G=) c.1304G= (p.Gly435=) | |
| 10 | g.68885430G>T | CA376881473 | STOX1 | c.1634G>T (p.Gly545Val) c.1970G>T (p.Gly657Val) c.463+3320G>T (n.463+3320G>T) c.663+971G>T (n.663+971G>T) c.1304G>T (p.Gly435Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885431T>A | CA470274520 | STOX1 | c.1635T>A (p.Gly545=) c.1971T>A (p.Gly657=) c.463+3321T>A (n.463+3321T>A) c.663+972T>A (n.663+972T>A) c.1305T>A (p.Gly435=) | |
| 10 | g.68885431T>C | CA470274521 | STOX1 | c.1635T>C (p.Gly545=) c.1971T>C (p.Gly657=) c.463+3321T>C (n.463+3321T>C) c.663+972T>C (n.663+972T>C) c.1305T>C (p.Gly435=) | gnomAD v4 |
| 10 | g.68885431T>G | CA470274522 | STOX1 | c.1635T>G (p.Gly545=) c.1971T>G (p.Gly657=) c.463+3321T>G (n.463+3321T>G) c.663+972T>G (n.663+972T>G) c.1305T>G (p.Gly435=) | |
| 10 | g.68885432A>C | CA376881474 | STOX1 | c.1636A>C (p.Lys546Gln) c.1972A>C (p.Lys658Gln) c.463+3322A>C (n.463+3322A>C) c.663+973A>C (n.663+973A>C) c.1306A>C (p.Lys436Gln) | |
| 10 | g.68885432A>G | CA376881475 | STOX1 | c.1636A>G (p.Lys546Glu) c.1972A>G (p.Lys658Glu) c.463+3322A>G (n.463+3322A>G) c.663+973A>G (n.663+973A>G) c.1306A>G (p.Lys436Glu) | gnomAD v4 |
| 10 | g.68885432A>T | CA376881476 | STOX1 | c.1636A>T (p.Lys546Ter) c.1972A>T (p.Lys658Ter) c.463+3322A>T (n.463+3322A>T) c.663+973A>T (n.663+973A>T) c.1306A>T (p.Lys436Ter) | |
| 10 | g.68885432_68885435delinsAAAG | CA1917549987 | STOX1 | c.1636_1639delinsAAAG (p.Lys546=) c.1972_1975delinsAAAG (p.Lys658=) c.463+3322_463+3325delinsAAAG (n.463+3322_463+3325delinsAAAG) c.663+973_663+976delinsAAAG (n.663+973_663+976delinsAAAG) c.1306_1309delinsAAAG (p.Lys436=) | |
| 10 | g.68885433A>C | CA376881479 | STOX1 | c.1637A>C (p.Lys546Thr) c.1973A>C (p.Lys658Thr) c.463+3323A>C (n.463+3323A>C) c.663+974A>C (n.663+974A>C) c.1307A>C (p.Lys436Thr) | |
| 10 | g.68885433A>G | CA376881478 | STOX1 | c.1637A>G (p.Lys546Arg) c.1973A>G (p.Lys658Arg) c.463+3323A>G (n.463+3323A>G) c.663+974A>G (n.663+974A>G) c.1307A>G (p.Lys436Arg) | |
| 10 | g.68885433A>T | CA376881477 | STOX1 | c.1637A>T (p.Lys546Ile) c.1973A>T (p.Lys658Ile) c.463+3323A>T (n.463+3323A>T) c.663+974A>T (n.663+974A>T) c.1307A>T (p.Lys436Ile) | |
| 10 | g.68885433_68885435del | CA5528205 | STOX1 | c.1637_1639del (p.Lys546_Ala547delinsThr) c.1973_1975del (p.Lys658_Ala659delinsThr) c.463+3323_463+3325del (n.463+3323_463+3325del) c.663+974_663+976del (n.663+974_663+976del) c.1307_1309del (p.Lys436_Ala437delinsThr) | dbSNP ExAC gnomAD v4 |
| 10 | g.68885434A>C | CA376881480 | STOX1 | c.1638A>C (p.Lys546Asn) c.1974A>C (p.Lys658Asn) c.463+3324A>C (n.463+3324A>C) c.663+975A>C (n.663+975A>C) c.1308A>C (p.Lys436Asn) | |
| 10 | g.68885434A>G | CA470274525 | STOX1 | c.1638A>G (p.Lys546=) c.1974A>G (p.Lys658=) c.463+3324A>G (n.463+3324A>G) c.663+975A>G (n.663+975A>G) c.1308A>G (p.Lys436=) | gnomAD v4 |
| 10 | g.68885434A>T | CA376881481 | STOX1 | c.1638A>T (p.Lys546Asn) c.1974A>T (p.Lys658Asn) c.463+3324A>T (n.463+3324A>T) c.663+975A>T (n.663+975A>T) c.1308A>T (p.Lys436Asn) | |
| 10 | g.68885435G>A | CA5528206 | STOX1 | c.1639G>A (p.Ala547Thr) c.1975G>A (p.Ala659Thr) c.463+3325G>A (n.463+3325G>A) c.663+976G>A (n.663+976G>A) c.1309G>A (p.Ala437Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.68885435G>C | CA376881482 | STOX1 | c.1639G>C (p.Ala547Pro) c.1975G>C (p.Ala659Pro) c.463+3325G>C (n.463+3325G>C) c.663+976G>C (n.663+976G>C) c.1309G>C (p.Ala437Pro) | |
| 10 | g.68885435G= | CA1917549988 | STOX1 | c.1639G= (p.Ala547=) c.1975G= (p.Ala659=) c.463+3325G= (n.463+3325G=) c.663+976G= (n.663+976G=) c.1309G= (p.Ala437=) | |
| 10 | g.68885435G>T | CA376881483 | STOX1 | c.1639G>T (p.Ala547Ser) c.1975G>T (p.Ala659Ser) c.463+3325G>T (n.463+3325G>T) c.663+976G>T (n.663+976G>T) c.1309G>T (p.Ala437Ser) | dbSNP |
| 10 | g.68885436C>A | CA376881484 | STOX1 | c.1640C>A (p.Ala547Asp) c.1976C>A (p.Ala659Asp) c.463+3326C>A (n.463+3326C>A) c.663+977C>A (n.663+977C>A) c.1310C>A (p.Ala437Asp) | |
| 10 | g.68885436C>G | CA376881485 | STOX1 | c.1640C>G (p.Ala547Gly) c.1976C>G (p.Ala659Gly) c.463+3326C>G (n.463+3326C>G) c.663+977C>G (n.663+977C>G) c.1310C>G (p.Ala437Gly) | |
| 10 | g.68885436C>T | CA376881486 | STOX1 | c.1640C>T (p.Ala547Val) c.1976C>T (p.Ala659Val) c.463+3326C>T (n.463+3326C>T) c.663+977C>T (n.663+977C>T) c.1310C>T (p.Ala437Val) |