Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3850909_3850922delinsATCTGGAACAAGGT | CA2202994260 | CREBBP | c.173_186delinsACCTTGTTCCAGAT (p.Asn58=) c.119_132delinsACCTTGTTCCAGAT (p.Asn40=) | |
16 | g.3850910T>A | CA394562367 | CREBBP | c.185A>T (p.Asp62Val) c.131A>T (p.Asp44Val) | |
16 | g.3850910T>C | CA394562370 | CREBBP | c.185A>G (p.Asp62Gly) c.131A>G (p.Asp44Gly) | |
16 | g.3850910T>G | CA394562372 | CREBBP | c.185A>C (p.Asp62Ala) c.131A>C (p.Asp44Ala) | |
16 | g.3850912_3850924del | CA915949060 | CREBBP | c.173_185del (p.Asn58MetfsTer25) c.119_131del (p.Asn40MetfsTer25) | ClinVar dbSNP |
16 | g.3850911C>A | CA394562376 | CREBBP | c.184G>T (p.Asp62Tyr) c.130G>T (p.Asp44Tyr) | dbSNP |
16 | g.3850911C>G | CA394562379 | CREBBP | c.184G>C (p.Asp62His) c.130G>C (p.Asp44His) | gnomAD v4 |
16 | g.3850911C>T | CA394562382 | CREBBP | c.184G>A (p.Asp62Asn) c.130G>A (p.Asp44Asn) | |
16 | g.3850912T>A | CA493395468 | CREBBP | c.183A>T (p.Pro61=) c.129A>T (p.Pro43=) | |
16 | g.3850912T>C | CA493395469 | CREBBP | c.183A>G (p.Pro61=) c.129A>G (p.Pro43=) | |
16 | g.3850912T>G | CA493395471 | CREBBP | c.183A>C (p.Pro61=) c.129A>C (p.Pro43=) | |
16 | g.3850913G>A | CA394562385 | CREBBP | c.182C>T (p.Pro61Leu) c.128C>T (p.Pro43Leu) | COSMIC |
16 | g.3850913G>C | CA394562388 | CREBBP | c.182C>G (p.Pro61Arg) c.128C>G (p.Pro43Arg) | |
16 | g.3850913G>T | CA394562390 | CREBBP | c.182C>A (p.Pro61Gln) c.128C>A (p.Pro43Gln) | |
16 | g.3850914G>A | CA394562396 | CREBBP | c.181C>T (p.Pro61Ser) c.127C>T (p.Pro43Ser) | |
16 | g.3850914G>C | CA394562395 | CREBBP | c.181C>G (p.Pro61Ala) c.127C>G (p.Pro43Ala) | gnomAD v4 |
16 | g.3850914G= | CA2202994261 | CREBBP | c.181C= (p.Pro61=) c.127C= (p.Pro43=) | |
16 | g.3850914G>T | CA276987666 | CREBBP | c.181C>A (p.Pro61Thr) c.127C>A (p.Pro43Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3850915A>C | CA493395475 | CREBBP | c.180T>G (p.Val60=) c.126T>G (p.Val42=) | |
16 | g.3850915A>G | CA493395477 | CREBBP | c.180T>C (p.Val60=) c.126T>C (p.Val42=) | |
16 | g.3850915A>T | CA493395478 | CREBBP | c.180T>A (p.Val60=) c.126T>A (p.Val42=) | |
16 | g.3850916A>C | CA394562397 | CREBBP | c.179T>G (p.Val60Gly) c.125T>G (p.Val42Gly) | |
16 | g.3850916A>G | CA394562398 | CREBBP | c.179T>C (p.Val60Ala) c.125T>C (p.Val42Ala) | |
16 | g.3850916A>T | CA394562400 | CREBBP | c.179T>A (p.Val60Asp) c.125T>A (p.Val42Asp) | |
16 | g.3850917C>A | CA394562403 | CREBBP | c.178G>T (p.Val60Phe) c.124G>T (p.Val42Phe) | |
16 | g.3850917C>G | CA394562405 | CREBBP | c.178G>C (p.Val60Leu) c.124G>C (p.Val42Leu) | gnomAD v4 |
16 | g.3850917C>T | CA394562407 | CREBBP | c.178G>A (p.Val60Ile) c.124G>A (p.Val42Ile) | |
16 | g.3850918A= | CA2202994262 | CREBBP | c.177T= (p.Leu59=) c.123T= (p.Leu41=) | |
16 | g.3850918A>C | CA493395482 | CREBBP | c.177T>G (p.Leu59=) c.123T>G (p.Leu41=) | |
16 | g.3850918A>G | CA493395483 | CREBBP | c.177T>C (p.Leu59=) c.123T>C (p.Leu41=) | |
16 | g.3850918A>T | CA7870727 | CREBBP | c.177T>A (p.Leu59=) c.123T>A (p.Leu41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3850919A>C | CA394562413 | CREBBP | c.176T>G (p.Leu59Arg) c.122T>G (p.Leu41Arg) | |
16 | g.3850919A>G | CA394562415 | CREBBP | c.176T>C (p.Leu59Pro) c.122T>C (p.Leu41Pro) | |
16 | g.3850919A>T | CA394562419 | CREBBP | c.176T>A (p.Leu59His) c.122T>A (p.Leu41His) | |
16 | g.3850920G>A | CA7870728 | CREBBP | c.175C>T (p.Leu59Phe) c.121C>T (p.Leu41Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3850920G>C | CA394562424 | CREBBP | c.175C>G (p.Leu59Val) c.121C>G (p.Leu41Val) | gnomAD v4 |
16 | g.3850920G= | CA2202994263 | CREBBP | c.175C= (p.Leu59=) c.121C= (p.Leu41=) | |
16 | g.3850920G>T | CA394562427 | CREBBP | c.175C>A (p.Leu59Ile) c.121C>A (p.Leu41Ile) | |
16 | g.3850921G>A | CA493395491 | CREBBP | c.174C>T (p.Asn58=) c.120C>T (p.Asn40=) | |
16 | g.3850921G>C | CA394562430 | CREBBP | c.174C>G (p.Asn58Lys) c.120C>G (p.Asn40Lys) | |
16 | g.3850921G>T | CA394562437 | CREBBP | c.174C>A (p.Asn58Lys) c.120C>A (p.Asn40Lys) | |
16 | g.3850922T>A | CA394562440 | CREBBP | c.173A>T (p.Asn58Ile) c.119A>T (p.Asn40Ile) | |
16 | g.3850922T>C | CA394562445 | CREBBP | c.173A>G (p.Asn58Ser) c.119A>G (p.Asn40Ser) | |
16 | g.3850922T>G | CA394562448 | CREBBP | c.173A>C (p.Asn58Thr) c.119A>C (p.Asn40Thr) | gnomAD v4 |
16 | g.3850923T>A | CA394562451 | CREBBP | c.172A>T (p.Asn58Tyr) c.118A>T (p.Asn40Tyr) | ClinVar gnomAD v4 |
16 | g.3850923T>C | CA394562455 | CREBBP | c.172A>G (p.Asn58Asp) c.118A>G (p.Asn40Asp) | |
16 | g.3850923T>G | CA394562458 | CREBBP | c.172A>C (p.Asn58His) c.118A>C (p.Asn40His) | |
16 | g.3850924C>A | CA493395493 | CREBBP | c.171G>T (p.Gly57=) c.117G>T (p.Gly39=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3850924C= | CA2202994264 | CREBBP | c.171G= (p.Gly57=) c.117G= (p.Gly39=) | |
16 | g.3850924C>G | CA493395494 | CREBBP | c.171G>C (p.Gly57=) c.117G>C (p.Gly39=) |