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.8073781_8073947del | CA645553620 | GATA3 | c.1090_1256del (p.Arg364HisfsTer?) c.1093_1259del (p.Arg365HisfsTer?) n.612_778del | COSMIC |
| 10 | g.8073795G>A | CA375975508 | GATA3 | c.1104G>A (p.Met368Ile) c.1107G>A (p.Met369Ile) n.626G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.8073795G>C | CA375975510 | GATA3 | c.1104G>C (p.Met368Ile) c.1107G>C (p.Met369Ile) n.626G>C | dbSNP |
| 10 | g.8073795G= | CA1888995972 | GATA3 | c.1104G= (p.Met368=) c.1107G= (p.Met369=) n.626G= | |
| 10 | g.8073795G>T | CA375975512 | GATA3 | c.1104G>T (p.Met368Ile) c.1107G>T (p.Met369Ile) n.626G>T | |
| 10 | g.8073796T>A | CA375975514 | GATA3 | c.1105T>A (p.Ser369Thr) c.1108T>A (p.Ser370Thr) n.627T>A | dbSNP |
| 10 | g.8073796T>C | CA375975516 | GATA3 | c.1105T>C (p.Ser369Pro) c.1108T>C (p.Ser370Pro) n.627T>C | |
| 10 | g.8073796T>G | CA375975517 | GATA3 | c.1105T>G (p.Ser369Ala) c.1108T>G (p.Ser370Ala) n.627T>G | |
| 10 | g.8073797C>A | CA375975519 | GATA3 | c.1106C>A (p.Ser369Tyr) c.1109C>A (p.Ser370Tyr) n.628C>A | dbSNP |
| 10 | g.8073797C>G | CA375975521 | GATA3 | c.1106C>G (p.Ser369Cys) c.1109C>G (p.Ser370Cys) n.628C>G | dbSNP |
| 10 | g.8073797C>T | CA375975523 | GATA3 | c.1106C>T (p.Ser369Phe) c.1109C>T (p.Ser370Phe) n.628C>T | dbSNP |
| 10 | g.8073798T>A | CA468400731 | GATA3 | c.1107T>A (p.Ser369=) c.1110T>A (p.Ser370=) n.629T>A | dbSNP |
| 10 | g.8073798T>C | CA468400732 | GATA3 | c.1107T>C (p.Ser369=) c.1110T>C (p.Ser370=) n.629T>C | |
| 10 | g.8073798T>G | CA468400733 | GATA3 | c.1107T>G (p.Ser369=) c.1110T>G (p.Ser370=) n.629T>G | |
| 10 | g.8073799A>C | CA375975525 | GATA3 | c.1108A>C (p.Ser370Arg) c.1111A>C (p.Ser371Arg) n.630A>C | |
| 10 | g.8073799A>G | CA375975527 | GATA3 | c.1108A>G (p.Ser370Gly) c.1111A>G (p.Ser371Gly) n.630A>G | dbSNP |
| 10 | g.8073799A>T | CA375975529 | GATA3 | c.1108A>T (p.Ser370Cys) c.1111A>T (p.Ser371Cys) n.630A>T | dbSNP |
| 10 | g.8073800G>A | CA375975531 | GATA3 | c.1109G>A (p.Ser370Asn) c.1112G>A (p.Ser371Asn) n.631G>A | dbSNP COSMIC |
| 10 | g.8073800G>C | CA375975535 | GATA3 | c.1109G>C (p.Ser370Thr) c.1112G>C (p.Ser371Thr) n.631G>C | dbSNP |
| 10 | g.8073800G>T | CA375975533 | GATA3 | c.1109G>T (p.Ser370Ile) c.1112G>T (p.Ser371Ile) n.631G>T | |
| 10 | g.8073801C>A | CA375975537 | GATA3 | c.1110C>A (p.Ser370Arg) c.1113C>A (p.Ser371Arg) n.632C>A | ClinVar dbSNP |
| 10 | g.8073801C>G | CA375975538 | GATA3 | c.1110C>G (p.Ser370Arg) c.1113C>G (p.Ser371Arg) n.632C>G | dbSNP gnomAD v4 |
| 10 | g.8073801C>T | CA468400738 | GATA3 | c.1110C>T (p.Ser370=) c.1113C>T (p.Ser371=) n.632C>T | dbSNP COSMIC |
| 10 | g.8073802A>C | CA375975540 | GATA3 | c.1111A>C (p.Lys371Gln) c.1114A>C (p.Lys372Gln) n.633A>C | dbSNP |
| 10 | g.8073802A>G | CA375975544 | GATA3 | c.1111A>G (p.Lys371Glu) c.1114A>G (p.Lys372Glu) n.633A>G | |
| 10 | g.8073802A>T | CA375975542 | GATA3 | c.1111A>T (p.Lys371Ter) c.1114A>T (p.Lys372Ter) n.633A>T | dbSNP |
| 10 | g.8073803A>C | CA375975546 | GATA3 | c.1112A>C (p.Lys371Thr) c.1115A>C (p.Lys372Thr) n.634A>C | |
| 10 | g.8073803A>G | CA375975548 | GATA3 | c.1112A>G (p.Lys371Arg) c.1115A>G (p.Lys372Arg) n.634A>G | |
| 10 | g.8073803A>T | CA375975549 | GATA3 | c.1112A>T (p.Lys371Ile) c.1115A>T (p.Lys372Ile) n.634A>T | dbSNP |
| 10 | g.8073804A>C | CA375975551 | GATA3 | c.1113A>C (p.Lys371Asn) c.1116A>C (p.Lys372Asn) n.635A>C | dbSNP |
| 10 | g.8073804A>G | CA468400742 | GATA3 | c.1113A>G (p.Lys371=) c.1116A>G (p.Lys372=) n.635A>G | dbSNP |
| 10 | g.8073804A>T | CA375975553 | GATA3 | c.1113A>T (p.Lys371Asn) c.1116A>T (p.Lys372Asn) n.635A>T | dbSNP |
| 10 | g.8073805T>A | CA375975555 | GATA3 | c.1114T>A (p.Ser372Thr) c.1117T>A (p.Ser373Thr) n.636T>A | dbSNP |
| 10 | g.8073805T>C | CA375975557 | GATA3 | c.1114T>C (p.Ser372Pro) c.1117T>C (p.Ser373Pro) n.636T>C | dbSNP |
| 10 | g.8073805T>G | CA375975558 | GATA3 | c.1114T>G (p.Ser372Ala) c.1117T>G (p.Ser373Ala) n.636T>G | dbSNP |
| 10 | g.8073806C>A | CA375975561 | GATA3 | c.1115C>A (p.Ser372Tyr) c.1118C>A (p.Ser373Tyr) n.637C>A | |
| 10 | g.8073806C= | CA1888995973 | GATA3 | c.1115C= (p.Ser372=) c.1118C= (p.Ser373=) n.637C= | |
| 10 | g.8073806C>G | CA375975563 | GATA3 | c.1115C>G (p.Ser372Cys) c.1118C>G (p.Ser373Cys) n.637C>G | |
| 10 | g.8073806C>T | CA375975564 | GATA3 | c.1115C>T (p.Ser372Phe) c.1118C>T (p.Ser373Phe) n.637C>T | dbSNP COSMIC |
| 10 | g.8073807C>A | CA5404551 | GATA3 | c.1116C>A (p.Ser372=) c.1119C>A (p.Ser373=) n.638C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.8073807C= | CA1888995975 | GATA3 | c.1116C= (p.Ser372=) c.1119C= (p.Ser373=) n.638C= | |
| 10 | g.8073807C>G | CA468400743 | GATA3 | c.1116C>G (p.Ser372=) c.1119C>G (p.Ser373=) n.638C>G | |
| 10 | g.8073807C>T | CA468400744 | GATA3 | c.1116C>T (p.Ser372=) c.1119C>T (p.Ser373=) n.638C>T | |
| 10 | g.8073808A= | CA1888995984 | GATA3 | c.1117A= (p.Lys373=) c.1120A= (p.Lys374=) n.639A= | |
| 10 | g.8073808A>C | CA375975569 | GATA3 | c.1117A>C (p.Lys373Gln) c.1120A>C (p.Lys374Gln) n.639A>C | dbSNP |
| 10 | g.8073808A>G | CA5404552 | GATA3 | c.1117A>G (p.Lys373Glu) c.1120A>G (p.Lys374Glu) n.639A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.8073808A>T | CA375975568 | GATA3 | c.1117A>T (p.Lys373Ter) c.1120A>T (p.Lys374Ter) n.639A>T | dbSNP |
| 10 | g.8073811_8073812del | CA645553621 | GATA3 | c.1120_1121del (p.Lys374ValfsTer6) c.1123_1124del (p.Lys375ValfsTer6) n.642_643del | COSMIC |
| 10 | g.8073818_8073827dup | CA915945846 | GATA3 | c.1127_1136dup (p.His379GlnfsTer5) c.1130_1139dup (p.His380GlnfsTer5) n.649_658dup | ClinVar dbSNP |
| 10 | g.8073809A>C | CA375975570 | GATA3 | c.1118A>C (p.Lys373Thr) c.1121A>C (p.Lys374Thr) n.640A>C |