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 |
|---|---|---|---|---|---|
| 16 | g.3736740A>C | CA394563764 | CREBBP | c.4470T>G (p.Asp1490Glu) c.4356T>G (p.Asp1452Glu) c.3105T>G (p.Asp1035Glu) n.260T>G n.291T>G n.3293T>G c.4425T>G (p.Asp1475Glu) c.4053T>G (p.Asp1351Glu) c.4209T>G (p.Asp1403Glu) c.4416T>G (p.Asp1472Glu) c.3717T>G (p.Asp1239Glu) c.4464T>G (p.Asp1488Glu) | |
| 16 | g.3736740A>G | CA493279416 | CREBBP | c.4470T>C (p.Asp1490=) c.4356T>C (p.Asp1452=) c.3105T>C (p.Asp1035=) n.260T>C n.291T>C n.3293T>C c.4425T>C (p.Asp1475=) c.4053T>C (p.Asp1351=) c.4209T>C (p.Asp1403=) c.4416T>C (p.Asp1472=) c.3717T>C (p.Asp1239=) c.4464T>C (p.Asp1488=) | dbSNP |
| 16 | g.3736740A>T | CA394563767 | CREBBP | c.4470T>A (p.Asp1490Glu) c.4356T>A (p.Asp1452Glu) c.3105T>A (p.Asp1035Glu) n.260T>A n.291T>A n.3293T>A c.4425T>A (p.Asp1475Glu) c.4053T>A (p.Asp1351Glu) c.4209T>A (p.Asp1403Glu) c.4416T>A (p.Asp1472Glu) c.3717T>A (p.Asp1239Glu) c.4464T>A (p.Asp1488Glu) | dbSNP gnomAD v4 |
| 16 | g.3736741T>A | CA394563771 | CREBBP | c.4469A>T (p.Asp1490Val) c.4355A>T (p.Asp1452Val) c.3104A>T (p.Asp1035Val) n.259A>T n.290A>T n.3292A>T c.4424A>T (p.Asp1475Val) c.4052A>T (p.Asp1351Val) c.4208A>T (p.Asp1403Val) c.4415A>T (p.Asp1472Val) c.3716A>T (p.Asp1239Val) c.4463A>T (p.Asp1488Val) | |
| 16 | g.3736741T>C | CA394563773 | CREBBP | c.4469A>G (p.Asp1490Gly) c.4355A>G (p.Asp1452Gly) c.3104A>G (p.Asp1035Gly) n.259A>G n.290A>G n.3292A>G c.4424A>G (p.Asp1475Gly) c.4052A>G (p.Asp1351Gly) c.4208A>G (p.Asp1403Gly) c.4415A>G (p.Asp1472Gly) c.3716A>G (p.Asp1239Gly) c.4463A>G (p.Asp1488Gly) | |
| 16 | g.3736741T>G | CA394563776 | CREBBP | c.4469A>C (p.Asp1490Ala) c.4355A>C (p.Asp1452Ala) c.3104A>C (p.Asp1035Ala) n.259A>C n.290A>C n.3292A>C c.4424A>C (p.Asp1475Ala) c.4052A>C (p.Asp1351Ala) c.4208A>C (p.Asp1403Ala) c.4415A>C (p.Asp1472Ala) c.3716A>C (p.Asp1239Ala) c.4463A>C (p.Asp1488Ala) | |
| 16 | g.3736742C>A | CA394563779 | CREBBP | c.4468G>T (p.Asp1490Tyr) c.4354G>T (p.Asp1452Tyr) c.3103G>T (p.Asp1035Tyr) n.258G>T n.289G>T n.3291G>T c.4423G>T (p.Asp1475Tyr) c.4051G>T (p.Asp1351Tyr) c.4207G>T (p.Asp1403Tyr) c.4414G>T (p.Asp1472Tyr) c.3715G>T (p.Asp1239Tyr) c.4462G>T (p.Asp1488Tyr) | dbSNP gnomAD v4 |
| 16 | g.3736742C>G | CA394563782 | CREBBP | c.4468G>C (p.Asp1490His) c.4354G>C (p.Asp1452His) c.3103G>C (p.Asp1035His) n.258G>C n.289G>C n.3291G>C c.4423G>C (p.Asp1475His) c.4051G>C (p.Asp1351His) c.4207G>C (p.Asp1403His) c.4414G>C (p.Asp1472His) c.3715G>C (p.Asp1239His) c.4462G>C (p.Asp1488His) | dbSNP |
| 16 | g.3736742C>T | CA394563785 | CREBBP | c.4468G>A (p.Asp1490Asn) c.4354G>A (p.Asp1452Asn) c.3103G>A (p.Asp1035Asn) n.258G>A n.289G>A n.3291G>A c.4423G>A (p.Asp1475Asn) c.4051G>A (p.Asp1351Asn) c.4207G>A (p.Asp1403Asn) c.4414G>A (p.Asp1472Asn) c.3715G>A (p.Asp1239Asn) c.4462G>A (p.Asp1488Asn) | dbSNP |
| 16 | g.3736743A>C | CA493279425 | CREBBP | c.4467T>G (p.Pro1489=) c.4353T>G (p.Pro1451=) c.3102T>G (p.Pro1034=) n.257T>G n.288T>G n.3290T>G c.4422T>G (p.Pro1474=) c.4050T>G (p.Pro1350=) c.4206T>G (p.Pro1402=) c.4413T>G (p.Pro1471=) c.3714T>G (p.Pro1238=) c.4461T>G (p.Pro1487=) | |
| 16 | g.3736743A>G | CA493279427 | CREBBP | c.4467T>C (p.Pro1489=) c.4353T>C (p.Pro1451=) c.3102T>C (p.Pro1034=) n.257T>C n.288T>C n.3290T>C c.4422T>C (p.Pro1474=) c.4050T>C (p.Pro1350=) c.4206T>C (p.Pro1402=) c.4413T>C (p.Pro1471=) c.3714T>C (p.Pro1238=) c.4461T>C (p.Pro1487=) | dbSNP |
| 16 | g.3736743A>T | CA493279428 | CREBBP | c.4467T>A (p.Pro1489=) c.4353T>A (p.Pro1451=) c.3102T>A (p.Pro1034=) n.257T>A n.288T>A n.3290T>A c.4422T>A (p.Pro1474=) c.4050T>A (p.Pro1350=) c.4206T>A (p.Pro1402=) c.4413T>A (p.Pro1471=) c.3714T>A (p.Pro1238=) c.4461T>A (p.Pro1487=) | dbSNP |
| 16 | g.3736744G>A | CA394563791 | CREBBP | c.4466C>T (p.Pro1489Leu) c.4352C>T (p.Pro1451Leu) c.3101C>T (p.Pro1034Leu) n.256C>T n.287C>T n.3289C>T c.4421C>T (p.Pro1474Leu) c.4049C>T (p.Pro1350Leu) c.4205C>T (p.Pro1402Leu) c.4412C>T (p.Pro1471Leu) c.3713C>T (p.Pro1238Leu) c.4460C>T (p.Pro1487Leu) | dbSNP gnomAD v4 |
| 16 | g.3736744G>C | CA394563794 | CREBBP | c.4466C>G (p.Pro1489Arg) c.4352C>G (p.Pro1451Arg) c.3101C>G (p.Pro1034Arg) n.256C>G n.287C>G n.3289C>G c.4421C>G (p.Pro1474Arg) c.4049C>G (p.Pro1350Arg) c.4205C>G (p.Pro1402Arg) c.4412C>G (p.Pro1471Arg) c.3713C>G (p.Pro1238Arg) c.4460C>G (p.Pro1487Arg) | dbSNP |
| 16 | g.3736744G>T | CA394563788 | CREBBP | c.4466C>A (p.Pro1489His) c.4352C>A (p.Pro1451His) c.3101C>A (p.Pro1034His) n.256C>A n.287C>A n.3289C>A c.4421C>A (p.Pro1474His) c.4049C>A (p.Pro1350His) c.4205C>A (p.Pro1402His) c.4412C>A (p.Pro1471His) c.3713C>A (p.Pro1238His) c.4460C>A (p.Pro1487His) | gnomAD v4 |
| 16 | g.3736745G>A | CA394563798 | CREBBP | c.4465C>T (p.Pro1489Ser) c.4351C>T (p.Pro1451Ser) c.3100C>T (p.Pro1034Ser) n.255C>T n.286C>T n.3288C>T c.4420C>T (p.Pro1474Ser) c.4048C>T (p.Pro1350Ser) c.4204C>T (p.Pro1402Ser) c.4411C>T (p.Pro1471Ser) c.3712C>T (p.Pro1238Ser) c.4459C>T (p.Pro1487Ser) | dbSNP gnomAD v4 |
| 16 | g.3736745G>C | CA394563799 | CREBBP | c.4465C>G (p.Pro1489Ala) c.4351C>G (p.Pro1451Ala) c.3100C>G (p.Pro1034Ala) n.255C>G n.286C>G n.3288C>G c.4420C>G (p.Pro1474Ala) c.4048C>G (p.Pro1350Ala) c.4204C>G (p.Pro1402Ala) c.4411C>G (p.Pro1471Ala) c.3712C>G (p.Pro1238Ala) c.4459C>G (p.Pro1487Ala) | ClinVar dbSNP |
| 16 | g.3736745G= | CA2202936664 | CREBBP | c.4465C= (p.Pro1489=) c.4351C= (p.Pro1451=) c.3100C= (p.Pro1034=) n.255C= n.286C= n.3288C= c.4420C= (p.Pro1474=) c.4048C= (p.Pro1350=) c.4204C= (p.Pro1402=) c.4411C= (p.Pro1471=) c.3712C= (p.Pro1238=) c.4459C= (p.Pro1487=) | |
| 16 | g.3736745G>T | CA394563801 | CREBBP | c.4465C>A (p.Pro1489Thr) c.4351C>A (p.Pro1451Thr) c.3100C>A (p.Pro1034Thr) n.255C>A n.286C>A n.3288C>A c.4420C>A (p.Pro1474Thr) c.4048C>A (p.Pro1350Thr) c.4204C>A (p.Pro1402Thr) c.4411C>A (p.Pro1471Thr) c.3712C>A (p.Pro1238Thr) c.4459C>A (p.Pro1487Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3736746T>A | CA493279437 | CREBBP | c.4464A>T (p.Pro1488=) c.4350A>T (p.Pro1450=) c.3099A>T (p.Pro1033=) n.254A>T n.285A>T n.3287A>T c.4419A>T (p.Pro1473=) c.4047A>T (p.Pro1349=) c.4203A>T (p.Pro1401=) c.4410A>T (p.Pro1470=) c.3711A>T (p.Pro1237=) c.4458A>T (p.Pro1486=) | |
| 16 | g.3736746T>C | CA7869515 | CREBBP | c.4464A>G (p.Pro1488=) c.4350A>G (p.Pro1450=) c.3099A>G (p.Pro1033=) n.254A>G n.285A>G n.3287A>G c.4419A>G (p.Pro1473=) c.4047A>G (p.Pro1349=) c.4203A>G (p.Pro1401=) c.4410A>G (p.Pro1470=) c.3711A>G (p.Pro1237=) c.4458A>G (p.Pro1486=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3736746T>G | CA493279439 | CREBBP | c.4464A>C (p.Pro1488=) c.4350A>C (p.Pro1450=) c.3099A>C (p.Pro1033=) n.254A>C n.285A>C n.3287A>C c.4419A>C (p.Pro1473=) c.4047A>C (p.Pro1349=) c.4203A>C (p.Pro1401=) c.4410A>C (p.Pro1470=) c.3711A>C (p.Pro1237=) c.4458A>C (p.Pro1486=) | |
| 16 | g.3736746T= | CA2202936671 | CREBBP | c.4464A= (p.Pro1488=) c.4350A= (p.Pro1450=) c.3099A= (p.Pro1033=) n.254A= n.285A= n.3287A= c.4419A= (p.Pro1473=) c.4047A= (p.Pro1349=) c.4203A= (p.Pro1401=) c.4410A= (p.Pro1470=) c.3711A= (p.Pro1237=) c.4458A= (p.Pro1486=) | |
| 16 | g.3736747G>A | CA394563806 | CREBBP | c.4463C>T (p.Pro1488Leu) c.4349C>T (p.Pro1450Leu) c.3098C>T (p.Pro1033Leu) n.253C>T n.284C>T n.3286C>T c.4418C>T (p.Pro1473Leu) c.4046C>T (p.Pro1349Leu) c.4202C>T (p.Pro1401Leu) c.4409C>T (p.Pro1470Leu) c.3710C>T (p.Pro1237Leu) c.4457C>T (p.Pro1486Leu) | dbSNP COSMIC |
| 16 | g.3736747G>C | CA394563808 | CREBBP | c.4463C>G (p.Pro1488Arg) c.4349C>G (p.Pro1450Arg) c.3098C>G (p.Pro1033Arg) n.253C>G n.284C>G n.3286C>G c.4418C>G (p.Pro1473Arg) c.4046C>G (p.Pro1349Arg) c.4202C>G (p.Pro1401Arg) c.4409C>G (p.Pro1470Arg) c.3710C>G (p.Pro1237Arg) c.4457C>G (p.Pro1486Arg) | dbSNP COSMIC |
| 16 | g.3736747G>T | CA394563811 | CREBBP | c.4463C>A (p.Pro1488Gln) c.4349C>A (p.Pro1450Gln) c.3098C>A (p.Pro1033Gln) n.253C>A n.284C>A n.3286C>A c.4418C>A (p.Pro1473Gln) c.4046C>A (p.Pro1349Gln) c.4202C>A (p.Pro1401Gln) c.4409C>A (p.Pro1470Gln) c.3710C>A (p.Pro1237Gln) c.4457C>A (p.Pro1486Gln) | COSMIC |
| 16 | g.3736748G>A | CA394563815 | CREBBP | c.4462C>T (p.Pro1488Ser) c.4348C>T (p.Pro1450Ser) c.3097C>T (p.Pro1033Ser) n.252C>T n.283C>T n.3285C>T c.4417C>T (p.Pro1473Ser) c.4045C>T (p.Pro1349Ser) c.4201C>T (p.Pro1401Ser) c.4408C>T (p.Pro1470Ser) c.3709C>T (p.Pro1237Ser) c.4456C>T (p.Pro1486Ser) | dbSNP |
| 16 | g.3736748G>C | CA394563817 | CREBBP | c.4462C>G (p.Pro1488Ala) c.4348C>G (p.Pro1450Ala) c.3097C>G (p.Pro1033Ala) n.252C>G n.283C>G n.3285C>G c.4417C>G (p.Pro1473Ala) c.4045C>G (p.Pro1349Ala) c.4201C>G (p.Pro1401Ala) c.4408C>G (p.Pro1470Ala) c.3709C>G (p.Pro1237Ala) c.4456C>G (p.Pro1486Ala) | dbSNP |
| 16 | g.3736748G>T | CA394563820 | CREBBP | c.4462C>A (p.Pro1488Thr) c.4348C>A (p.Pro1450Thr) c.3097C>A (p.Pro1033Thr) n.252C>A n.283C>A n.3285C>A c.4417C>A (p.Pro1473Thr) c.4045C>A (p.Pro1349Thr) c.4201C>A (p.Pro1401Thr) c.4408C>A (p.Pro1470Thr) c.3709C>A (p.Pro1237Thr) c.4456C>A (p.Pro1486Thr) | dbSNP |
| 16 | g.3736749G>A | CA493279448 | CREBBP | c.4461C>T (p.His1487=) c.4347C>T (p.His1449=) c.3096C>T (p.His1032=) n.251C>T n.282C>T n.3284C>T c.4416C>T (p.His1472=) c.4044C>T (p.His1348=) c.4200C>T (p.His1400=) c.4407C>T (p.His1469=) c.3708C>T (p.His1236=) c.4455C>T (p.His1485=) | dbSNP gnomAD v4 |
| 16 | g.3736749G>C | CA394563822 | CREBBP | c.4461C>G (p.His1487Gln) c.4347C>G (p.His1449Gln) c.3096C>G (p.His1032Gln) n.251C>G n.282C>G n.3284C>G c.4416C>G (p.His1472Gln) c.4044C>G (p.His1348Gln) c.4200C>G (p.His1400Gln) c.4407C>G (p.His1469Gln) c.3708C>G (p.His1236Gln) c.4455C>G (p.His1485Gln) | dbSNP |
| 16 | g.3736749G= | CA2202936675 | CREBBP | c.4461C= (p.His1487=) c.4347C= (p.His1449=) c.3096C= (p.His1032=) n.251C= n.282C= n.3284C= c.4416C= (p.His1472=) c.4044C= (p.His1348=) c.4200C= (p.His1400=) c.4407C= (p.His1469=) c.3708C= (p.His1236=) c.4455C= (p.His1485=) | |
| 16 | g.3736749G>T | CA394563823 | CREBBP | c.4461C>A (p.His1487Gln) c.4347C>A (p.His1449Gln) c.3096C>A (p.His1032Gln) n.251C>A n.282C>A n.3284C>A c.4416C>A (p.His1472Gln) c.4044C>A (p.His1348Gln) c.4200C>A (p.His1400Gln) c.4407C>A (p.His1469Gln) c.3708C>A (p.His1236Gln) c.4455C>A (p.His1485Gln) | |
| 16 | g.3736750T>A | CA394563831 | CREBBP | c.4460A>T (p.His1487Leu) c.4346A>T (p.His1449Leu) c.3095A>T (p.His1032Leu) n.250A>T n.281A>T n.3283A>T c.4415A>T (p.His1472Leu) c.4043A>T (p.His1348Leu) c.4199A>T (p.His1400Leu) c.4406A>T (p.His1469Leu) c.3707A>T (p.His1236Leu) c.4454A>T (p.His1485Leu) | |
| 16 | g.3736750T>C | CA394563830 | CREBBP | c.4460A>G (p.His1487Arg) c.4346A>G (p.His1449Arg) c.3095A>G (p.His1032Arg) n.250A>G n.281A>G n.3283A>G c.4415A>G (p.His1472Arg) c.4043A>G (p.His1348Arg) c.4199A>G (p.His1400Arg) c.4406A>G (p.His1469Arg) c.3707A>G (p.His1236Arg) c.4454A>G (p.His1485Arg) | ClinVar dbSNP |
| 16 | g.3736750T>G | CA394563826 | CREBBP | c.4460A>C (p.His1487Pro) c.4346A>C (p.His1449Pro) c.3095A>C (p.His1032Pro) n.250A>C n.281A>C n.3283A>C c.4415A>C (p.His1472Pro) c.4043A>C (p.His1348Pro) c.4199A>C (p.His1400Pro) c.4406A>C (p.His1469Pro) c.3707A>C (p.His1236Pro) c.4454A>C (p.His1485Pro) | |
| 16 | g.3736750T= | CA2202936678 | CREBBP | c.4460A= (p.His1487=) c.4346A= (p.His1449=) c.3095A= (p.His1032=) n.250A= n.281A= n.3283A= c.4415A= (p.His1472=) c.4043A= (p.His1348=) c.4199A= (p.His1400=) c.4406A= (p.His1469=) c.3707A= (p.His1236=) c.4454A= (p.His1485=) | |
| 16 | g.3736751G>A | CA16043855 | CREBBP | c.4459C>T (p.His1487Tyr) c.4345C>T (p.His1449Tyr) c.3094C>T (p.His1032Tyr) n.249C>T n.280C>T n.3282C>T c.4414C>T (p.His1472Tyr) c.4042C>T (p.His1348Tyr) c.4198C>T (p.His1400Tyr) c.4405C>T (p.His1469Tyr) c.3706C>T (p.His1236Tyr) c.4453C>T (p.His1485Tyr) | ClinVar dbSNP COSMIC |
| 16 | g.3736751G>C | CA394563844 | CREBBP | c.4459C>G (p.His1487Asp) c.4345C>G (p.His1449Asp) c.3094C>G (p.His1032Asp) n.249C>G n.280C>G n.3282C>G c.4414C>G (p.His1472Asp) c.4042C>G (p.His1348Asp) c.4198C>G (p.His1400Asp) c.4405C>G (p.His1469Asp) c.3706C>G (p.His1236Asp) c.4453C>G (p.His1485Asp) | |
| 16 | g.3736751G= | CA2202936681 | CREBBP | c.4459C= (p.His1487=) c.4345C= (p.His1449=) c.3094C= (p.His1032=) n.249C= n.280C= n.3282C= c.4414C= (p.His1472=) c.4042C= (p.His1348=) c.4198C= (p.His1400=) c.4405C= (p.His1469=) c.3706C= (p.His1236=) c.4453C= (p.His1485=) | |
| 16 | g.3736751G>T | CA394563847 | CREBBP | c.4459C>A (p.His1487Asn) c.4345C>A (p.His1449Asn) c.3094C>A (p.His1032Asn) n.249C>A n.280C>A n.3282C>A c.4414C>A (p.His1472Asn) c.4042C>A (p.His1348Asn) c.4198C>A (p.His1400Asn) c.4405C>A (p.His1469Asn) c.3706C>A (p.His1236Asn) c.4453C>A (p.His1485Asn) | dbSNP COSMIC |
| 16 | g.3736751_3736752insA | CA915949072 | CREBBP | c.4458_4459insT (p.His1487SerfsTer4) c.4344_4345insT (p.His1449SerfsTer4) c.3093_3094insT (p.His1032SerfsTer4) n.248_249insT n.279_280insT n.3281_3282insT c.4413_4414insT (p.His1472SerfsTer4) c.4041_4042insT (p.His1348SerfsTer4) c.4197_4198insT (p.His1400SerfsTer4) c.4404_4405insT (p.His1469SerfsTer4) c.3705_3706insT (p.His1236SerfsTer4) c.4452_4453insT (p.His1485SerfsTer4) | ClinVar dbSNP |
| 16 | g.3736752G>A | CA276980085 | CREBBP | c.4458C>T (p.Cys1486=) c.4344C>T (p.Cys1448=) c.3093C>T (p.Cys1031=) n.248C>T n.279C>T n.3281C>T c.4413C>T (p.Cys1471=) c.4041C>T (p.Cys1347=) c.4197C>T (p.Cys1399=) c.4404C>T (p.Cys1468=) c.3705C>T (p.Cys1235=) c.4452C>T (p.Cys1484=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3736752G>C | CA394563852 | CREBBP | c.4458C>G (p.Cys1486Trp) c.4344C>G (p.Cys1448Trp) c.3093C>G (p.Cys1031Trp) n.248C>G n.279C>G n.3281C>G c.4413C>G (p.Cys1471Trp) c.4041C>G (p.Cys1347Trp) c.4197C>G (p.Cys1399Trp) c.4404C>G (p.Cys1468Trp) c.3705C>G (p.Cys1235Trp) c.4452C>G (p.Cys1484Trp) | |
| 16 | g.3736752G= | CA2202936683 | CREBBP | c.4458C= (p.Cys1486=) c.4344C= (p.Cys1448=) c.3093C= (p.Cys1031=) n.248C= n.279C= n.3281C= c.4413C= (p.Cys1471=) c.4041C= (p.Cys1347=) c.4197C= (p.Cys1399=) c.4404C= (p.Cys1468=) c.3705C= (p.Cys1235=) c.4452C= (p.Cys1484=) | |
| 16 | g.3736752G>T | CA394563854 | CREBBP | c.4458C>A (p.Cys1486Ter) c.4344C>A (p.Cys1448Ter) c.3093C>A (p.Cys1031Ter) n.248C>A n.279C>A n.3281C>A c.4413C>A (p.Cys1471Ter) c.4041C>A (p.Cys1347Ter) c.4197C>A (p.Cys1399Ter) c.4404C>A (p.Cys1468Ter) c.3705C>A (p.Cys1235Ter) c.4452C>A (p.Cys1484Ter) | |
| 16 | g.3736752_3736753del | CA2697549650 | CREBBP | c.4457_4458del (p.Cys1486SerfsTer4) c.4343_4344del (p.Cys1448SerfsTer4) c.3092_3093del (p.Cys1031SerfsTer4) n.247_248del n.278_279del n.3280_3281del c.4412_4413del (p.Cys1471SerfsTer4) c.4040_4041del (p.Cys1347SerfsTer4) c.4196_4197del (p.Cys1399SerfsTer4) c.4403_4404del (p.Cys1468SerfsTer4) c.3704_3705del (p.Cys1235SerfsTer4) c.4451_4452del (p.Cys1484SerfsTer4) | ClinVar |
| 16 | g.3736753C>A | CA394563856 | CREBBP | c.4457G>T (p.Cys1486Phe) c.4343G>T (p.Cys1448Phe) c.3092G>T (p.Cys1031Phe) n.247G>T n.278G>T n.3280G>T c.4412G>T (p.Cys1471Phe) c.4040G>T (p.Cys1347Phe) c.4196G>T (p.Cys1399Phe) c.4403G>T (p.Cys1468Phe) c.3704G>T (p.Cys1235Phe) c.4451G>T (p.Cys1484Phe) | |
| 16 | g.3736753C>G | CA394563857 | CREBBP | c.4457G>C (p.Cys1486Ser) c.4343G>C (p.Cys1448Ser) c.3092G>C (p.Cys1031Ser) n.247G>C n.278G>C n.3280G>C c.4412G>C (p.Cys1471Ser) c.4040G>C (p.Cys1347Ser) c.4196G>C (p.Cys1399Ser) c.4403G>C (p.Cys1468Ser) c.3704G>C (p.Cys1235Ser) c.4451G>C (p.Cys1484Ser) | |
| 16 | g.3736753C>T | CA394563860 | CREBBP | c.4457G>A (p.Cys1486Tyr) c.4343G>A (p.Cys1448Tyr) c.3092G>A (p.Cys1031Tyr) n.247G>A n.278G>A n.3280G>A c.4412G>A (p.Cys1471Tyr) c.4040G>A (p.Cys1347Tyr) c.4196G>A (p.Cys1399Tyr) c.4403G>A (p.Cys1468Tyr) c.3704G>A (p.Cys1235Tyr) c.4451G>A (p.Cys1484Tyr) | dbSNP |