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.3736738del | CA493279389 | CREBBP | c.4477del (p.Ile1493TyrfsTer?) c.4363del (p.Ile1455TyrfsTer?) c.3112del (p.Ile1038TyrfsTer?) n.267del n.298del n.3300del c.4432del (p.Ile1478TyrfsTer?) c.4060del (p.Ile1354TyrfsTer?) c.4216del (p.Ile1406TyrfsTer?) c.4423del (p.Ile1475TyrfsTer?) c.3724del (p.Ile1242TyrfsTer?) c.4471del (p.Ile1491TyrfsTer?) | COSMIC |
| 16 | g.3736734T>A | CA394563717 | CREBBP | c.4476A>T (p.Lys1492Asn) c.4362A>T (p.Lys1454Asn) c.3111A>T (p.Lys1037Asn) n.266A>T n.297A>T n.3299A>T c.4431A>T (p.Lys1477Asn) c.4059A>T (p.Lys1353Asn) c.4215A>T (p.Lys1405Asn) c.4422A>T (p.Lys1474Asn) c.3723A>T (p.Lys1241Asn) c.4470A>T (p.Lys1490Asn) | dbSNP |
| 16 | g.3736734T>C | CA493279393 | CREBBP | c.4476A>G (p.Lys1492=) c.4362A>G (p.Lys1454=) c.3111A>G (p.Lys1037=) n.266A>G n.297A>G n.3299A>G c.4431A>G (p.Lys1477=) c.4059A>G (p.Lys1353=) c.4215A>G (p.Lys1405=) c.4422A>G (p.Lys1474=) c.3723A>G (p.Lys1241=) c.4470A>G (p.Lys1490=) | |
| 16 | g.3736734T>G | CA394563719 | CREBBP | c.4476A>C (p.Lys1492Asn) c.4362A>C (p.Lys1454Asn) c.3111A>C (p.Lys1037Asn) n.266A>C n.297A>C n.3299A>C c.4431A>C (p.Lys1477Asn) c.4059A>C (p.Lys1353Asn) c.4215A>C (p.Lys1405Asn) c.4422A>C (p.Lys1474Asn) c.3723A>C (p.Lys1241Asn) c.4470A>C (p.Lys1490Asn) | |
| 16 | g.3736735T>A | CA394563722 | CREBBP | c.4475A>T (p.Lys1492Ile) c.4361A>T (p.Lys1454Ile) c.3110A>T (p.Lys1037Ile) n.265A>T n.296A>T n.3298A>T c.4430A>T (p.Lys1477Ile) c.4058A>T (p.Lys1353Ile) c.4214A>T (p.Lys1405Ile) c.4421A>T (p.Lys1474Ile) c.3722A>T (p.Lys1241Ile) c.4469A>T (p.Lys1490Ile) | |
| 16 | g.3736735T>C | CA394563724 | CREBBP | c.4475A>G (p.Lys1492Arg) c.4361A>G (p.Lys1454Arg) c.3110A>G (p.Lys1037Arg) n.265A>G n.296A>G n.3298A>G c.4430A>G (p.Lys1477Arg) c.4058A>G (p.Lys1353Arg) c.4214A>G (p.Lys1405Arg) c.4421A>G (p.Lys1474Arg) c.3722A>G (p.Lys1241Arg) c.4469A>G (p.Lys1490Arg) | |
| 16 | g.3736735T>G | CA394563727 | CREBBP | c.4475A>C (p.Lys1492Thr) c.4361A>C (p.Lys1454Thr) c.3110A>C (p.Lys1037Thr) n.265A>C n.296A>C n.3298A>C c.4430A>C (p.Lys1477Thr) c.4058A>C (p.Lys1353Thr) c.4214A>C (p.Lys1405Thr) c.4421A>C (p.Lys1474Thr) c.3722A>C (p.Lys1241Thr) c.4469A>C (p.Lys1490Thr) | |
| 16 | g.3736736T>A | CA394563729 | CREBBP | c.4474A>T (p.Lys1492Ter) c.4360A>T (p.Lys1454Ter) c.3109A>T (p.Lys1037Ter) n.264A>T n.295A>T n.3297A>T c.4429A>T (p.Lys1477Ter) c.4057A>T (p.Lys1353Ter) c.4213A>T (p.Lys1405Ter) c.4420A>T (p.Lys1474Ter) c.3721A>T (p.Lys1241Ter) c.4468A>T (p.Lys1490Ter) | dbSNP |
| 16 | g.3736736T>C | CA394563731 | CREBBP | c.4474A>G (p.Lys1492Glu) c.4360A>G (p.Lys1454Glu) c.3109A>G (p.Lys1037Glu) n.264A>G n.295A>G n.3297A>G c.4429A>G (p.Lys1477Glu) c.4057A>G (p.Lys1353Glu) c.4213A>G (p.Lys1405Glu) c.4420A>G (p.Lys1474Glu) c.3721A>G (p.Lys1241Glu) c.4468A>G (p.Lys1490Glu) | |
| 16 | g.3736736T>G | CA394563735 | CREBBP | c.4474A>C (p.Lys1492Gln) c.4360A>C (p.Lys1454Gln) c.3109A>C (p.Lys1037Gln) n.264A>C n.295A>C n.3297A>C c.4429A>C (p.Lys1477Gln) c.4057A>C (p.Lys1353Gln) c.4213A>C (p.Lys1405Gln) c.4420A>C (p.Lys1474Gln) c.3721A>C (p.Lys1241Gln) c.4468A>C (p.Lys1490Gln) | |
| 16 | g.3736737T>A | CA394563736 | CREBBP | c.4473A>T (p.Gln1491His) c.4359A>T (p.Gln1453His) c.3108A>T (p.Gln1036His) n.263A>T n.294A>T n.3296A>T c.4428A>T (p.Gln1476His) c.4056A>T (p.Gln1352His) c.4212A>T (p.Gln1404His) c.4419A>T (p.Gln1473His) c.3720A>T (p.Gln1240His) c.4467A>T (p.Gln1489His) | COSMIC |
| 16 | g.3736737T>C | CA493279407 | CREBBP | c.4473A>G (p.Gln1491=) c.4359A>G (p.Gln1453=) c.3108A>G (p.Gln1036=) n.263A>G n.294A>G n.3296A>G c.4428A>G (p.Gln1476=) c.4056A>G (p.Gln1352=) c.4212A>G (p.Gln1404=) c.4419A>G (p.Gln1473=) c.3720A>G (p.Gln1240=) c.4467A>G (p.Gln1489=) | dbSNP |
| 16 | g.3736737T>G | CA394563743 | CREBBP | c.4473A>C (p.Gln1491His) c.4359A>C (p.Gln1453His) c.3108A>C (p.Gln1036His) n.263A>C n.294A>C n.3296A>C c.4428A>C (p.Gln1476His) c.4056A>C (p.Gln1352His) c.4212A>C (p.Gln1404His) c.4419A>C (p.Gln1473His) c.3720A>C (p.Gln1240His) c.4467A>C (p.Gln1489His) | |
| 16 | g.3736737_3736739del | CA645575177 | CREBBP | c.4471_4473del (p.Gln1491del) c.4357_4359del (p.Gln1453del) c.3106_3108del (p.Gln1036del) n.261_263del n.292_294del n.3294_3296del c.4426_4428del (p.Gln1476del) c.4054_4056del (p.Gln1352del) c.4210_4212del (p.Gln1404del) c.4417_4419del (p.Gln1473del) c.3718_3720del (p.Gln1240del) c.4465_4467del (p.Gln1489del) | COSMIC |
| 16 | g.3736738T>A | CA394563746 | CREBBP | c.4472A>T (p.Gln1491Leu) c.4358A>T (p.Gln1453Leu) c.3107A>T (p.Gln1036Leu) n.262A>T n.293A>T n.3295A>T c.4427A>T (p.Gln1476Leu) c.4055A>T (p.Gln1352Leu) c.4211A>T (p.Gln1404Leu) c.4418A>T (p.Gln1473Leu) c.3719A>T (p.Gln1240Leu) c.4466A>T (p.Gln1489Leu) | dbSNP |
| 16 | g.3736738T>C | CA394563752 | CREBBP | c.4472A>G (p.Gln1491Arg) c.4358A>G (p.Gln1453Arg) c.3107A>G (p.Gln1036Arg) n.262A>G n.293A>G n.3295A>G c.4427A>G (p.Gln1476Arg) c.4055A>G (p.Gln1352Arg) c.4211A>G (p.Gln1404Arg) c.4418A>G (p.Gln1473Arg) c.3719A>G (p.Gln1240Arg) c.4466A>G (p.Gln1489Arg) | |
| 16 | g.3736738T>G | CA394563749 | CREBBP | c.4472A>C (p.Gln1491Pro) c.4358A>C (p.Gln1453Pro) c.3107A>C (p.Gln1036Pro) n.262A>C n.293A>C n.3295A>C c.4427A>C (p.Gln1476Pro) c.4055A>C (p.Gln1352Pro) c.4211A>C (p.Gln1404Pro) c.4418A>C (p.Gln1473Pro) c.3719A>C (p.Gln1240Pro) c.4466A>C (p.Gln1489Pro) | |
| 16 | g.3736739G>A | CA394563756 | CREBBP | c.4471C>T (p.Gln1491Ter) c.4357C>T (p.Gln1453Ter) c.3106C>T (p.Gln1036Ter) n.261C>T n.292C>T n.3294C>T c.4426C>T (p.Gln1476Ter) c.4054C>T (p.Gln1352Ter) c.4210C>T (p.Gln1404Ter) c.4417C>T (p.Gln1473Ter) c.3718C>T (p.Gln1240Ter) c.4465C>T (p.Gln1489Ter) | ClinVar dbSNP |
| 16 | g.3736739G>C | CA394563759 | CREBBP | c.4471C>G (p.Gln1491Glu) c.4357C>G (p.Gln1453Glu) c.3106C>G (p.Gln1036Glu) n.261C>G n.292C>G n.3294C>G c.4426C>G (p.Gln1476Glu) c.4054C>G (p.Gln1352Glu) c.4210C>G (p.Gln1404Glu) c.4417C>G (p.Gln1473Glu) c.3718C>G (p.Gln1240Glu) c.4465C>G (p.Gln1489Glu) | dbSNP COSMIC |
| 16 | g.3736739G= | CA2202936661 | CREBBP | c.4471C= (p.Gln1491=) c.4357C= (p.Gln1453=) c.3106C= (p.Gln1036=) n.261C= n.292C= n.3294C= c.4426C= (p.Gln1476=) c.4054C= (p.Gln1352=) c.4210C= (p.Gln1404=) c.4417C= (p.Gln1473=) c.3718C= (p.Gln1240=) c.4465C= (p.Gln1489=) | |
| 16 | g.3736739G>T | CA276980080 | CREBBP | c.4471C>A (p.Gln1491Lys) c.4357C>A (p.Gln1453Lys) c.3106C>A (p.Gln1036Lys) n.261C>A n.292C>A n.3294C>A c.4426C>A (p.Gln1476Lys) c.4054C>A (p.Gln1352Lys) c.4210C>A (p.Gln1404Lys) c.4417C>A (p.Gln1473Lys) c.3718C>A (p.Gln1240Lys) c.4465C>A (p.Gln1489Lys) | dbSNP gnomAD v4 |
| 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 |