WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3739573_3739574delinsAC | CA2202939765 | CREBBP | c.4280+4_4280+5delinsGT (n.4280+4_4280+5delinsGT) c.4166+4_4166+5delinsGT (n.4166+4_4166+5delinsGT) c.2915+4_2915+5delinsGT (n.2915+4_2915+5delinsGT) c.590_591delinsGT n.215+825_215+826delinsGT n.3217+4_3217+5delinsGT c.4235+4_4235+5delinsGT (n.4235+4_4235+5delinsGT) c.3863+4_3863+5delinsGT (n.3863+4_3863+5delinsGT) c.4133+825_4133+826delinsGT (n.4133+825_4133+826delinsGT) c.4226+4_4226+5delinsGT (n.4226+4_4226+5delinsGT) c.3527+4_3527+5delinsGT (n.3527+4_3527+5delinsGT) c.4274+4_4274+5delinsGT (n.4274+4_4274+5delinsGT) | |
| 16 | g.3739574del | CA276982474 | CREBBP | c.4280+4del (n.4280+4del) c.4166+4del (n.4166+4del) c.2915+4del (n.2915+4del) c.590del n.215+825del n.3217+4del c.4235+4del (n.4235+4del) c.3863+4del (n.3863+4del) c.4133+825del (n.4133+825del) c.4226+4del (n.4226+4del) c.3527+4del (n.3527+4del) c.4274+4del (n.4274+4del) | dbSNP |
| 16 | g.3739574C>A | CA394564670 | CREBBP | c.4280+4G>T (n.4280+4G>T) c.4166+4G>T (n.4166+4G>T) c.2915+4G>T (n.2915+4G>T) c.590G>T n.215+825G>T n.3217+4G>T c.4235+4G>T (n.4235+4G>T) c.3863+4G>T (n.3863+4G>T) c.4133+825G>T (n.4133+825G>T) c.4226+4G>T (n.4226+4G>T) c.3527+4G>T (n.3527+4G>T) c.4274+4G>T (n.4274+4G>T) | |
| 16 | g.3739574C>G | CA394564669 | CREBBP | c.4280+4G>C (n.4280+4G>C) c.4166+4G>C (n.4166+4G>C) c.2915+4G>C (n.2915+4G>C) c.590G>C n.215+825G>C n.3217+4G>C c.4235+4G>C (n.4235+4G>C) c.3863+4G>C (n.3863+4G>C) c.4133+825G>C (n.4133+825G>C) c.4226+4G>C (n.4226+4G>C) c.3527+4G>C (n.3527+4G>C) c.4274+4G>C (n.4274+4G>C) | dbSNP |
| 16 | g.3739574C>T | CA2731851209 | CREBBP | c.4280+4G>A (n.4280+4G>A) c.4166+4G>A (n.4166+4G>A) c.2915+4G>A (n.2915+4G>A) c.590G>A n.215+825G>A n.3217+4G>A c.4235+4G>A (n.4235+4G>A) c.3863+4G>A (n.3863+4G>A) c.4133+825G>A (n.4133+825G>A) c.4226+4G>A (n.4226+4G>A) c.3527+4G>A (n.3527+4G>A) c.4274+4G>A (n.4274+4G>A) | dbSNP |
| 16 | g.3739575T>A | CA394564671 | CREBBP | c.4280+3A>T (n.4280+3A>T) c.4166+3A>T (n.4166+3A>T) c.2915+3A>T (n.2915+3A>T) c.589A>T n.215+824A>T n.3217+3A>T c.4235+3A>T (n.4235+3A>T) c.3863+3A>T (n.3863+3A>T) c.4133+824A>T (n.4133+824A>T) c.4226+3A>T (n.4226+3A>T) c.3527+3A>T (n.3527+3A>T) c.4274+3A>T (n.4274+3A>T) | dbSNP |
| 16 | g.3739575T>C | CA394564672 | CREBBP | c.4280+3A>G (n.4280+3A>G) c.4166+3A>G (n.4166+3A>G) c.2915+3A>G (n.2915+3A>G) c.589A>G n.215+824A>G n.3217+3A>G c.4235+3A>G (n.4235+3A>G) c.3863+3A>G (n.3863+3A>G) c.4133+824A>G (n.4133+824A>G) c.4226+3A>G (n.4226+3A>G) c.3527+3A>G (n.3527+3A>G) c.4274+3A>G (n.4274+3A>G) | dbSNP |
| 16 | g.3739575T>G | CA394564673 | CREBBP | c.4280+3A>C (n.4280+3A>C) c.4166+3A>C (n.4166+3A>C) c.2915+3A>C (n.2915+3A>C) c.589A>C n.215+824A>C n.3217+3A>C c.4235+3A>C (n.4235+3A>C) c.3863+3A>C (n.3863+3A>C) c.4133+824A>C (n.4133+824A>C) c.4226+3A>C (n.4226+3A>C) c.3527+3A>C (n.3527+3A>C) c.4274+3A>C (n.4274+3A>C) | |
| 16 | g.3739576A>C | CA394564674 | CREBBP | c.4280+2T>G (n.4280+2T>G) c.4166+2T>G (n.4166+2T>G) c.2915+2T>G (n.2915+2T>G) c.588T>G n.215+823T>G n.3217+2T>G c.4235+2T>G (n.4235+2T>G) c.3863+2T>G (n.3863+2T>G) c.4133+823T>G (n.4133+823T>G) c.4226+2T>G (n.4226+2T>G) c.3527+2T>G (n.3527+2T>G) c.4274+2T>G (n.4274+2T>G) | dbSNP |
| 16 | g.3739576A>G | CA394564675 | CREBBP | c.4280+2T>C (n.4280+2T>C) c.4166+2T>C (n.4166+2T>C) c.2915+2T>C (n.2915+2T>C) c.588T>C n.215+823T>C n.3217+2T>C c.4235+2T>C (n.4235+2T>C) c.3863+2T>C (n.3863+2T>C) c.4133+823T>C (n.4133+823T>C) c.4226+2T>C (n.4226+2T>C) c.3527+2T>C (n.3527+2T>C) c.4274+2T>C (n.4274+2T>C) | dbSNP gnomAD v4 COSMIC |
| 16 | g.3739576A>T | CA394564676 | CREBBP | c.4280+2T>A (n.4280+2T>A) c.4166+2T>A (n.4166+2T>A) c.2915+2T>A (n.2915+2T>A) c.588T>A n.215+823T>A n.3217+2T>A c.4235+2T>A (n.4235+2T>A) c.3863+2T>A (n.3863+2T>A) c.4133+823T>A (n.4133+823T>A) c.4226+2T>A (n.4226+2T>A) c.3527+2T>A (n.3527+2T>A) c.4274+2T>A (n.4274+2T>A) | dbSNP |
| 16 | g.3739577C>A | CA394564677 | CREBBP | c.4280+1G>T (n.4280+1G>T) c.4166+1G>T (n.4166+1G>T) c.2915+1G>T (n.2915+1G>T) c.587G>T n.215+822G>T n.3217+1G>T c.4235+1G>T (n.4235+1G>T) c.3863+1G>T (n.3863+1G>T) c.4133+822G>T (n.4133+822G>T) c.4226+1G>T (n.4226+1G>T) c.3527+1G>T (n.3527+1G>T) c.4274+1G>T (n.4274+1G>T) | COSMIC |
| 16 | g.3739577C>G | CA394564678 | CREBBP | c.4280+1G>C (n.4280+1G>C) c.4166+1G>C (n.4166+1G>C) c.2915+1G>C (n.2915+1G>C) c.587G>C n.215+822G>C n.3217+1G>C c.4235+1G>C (n.4235+1G>C) c.3863+1G>C (n.3863+1G>C) c.4133+822G>C (n.4133+822G>C) c.4226+1G>C (n.4226+1G>C) c.3527+1G>C (n.3527+1G>C) c.4274+1G>C (n.4274+1G>C) | dbSNP |
| 16 | g.3739577C>T | CA394564679 | CREBBP | c.4280+1G>A (n.4280+1G>A) c.4166+1G>A (n.4166+1G>A) c.2915+1G>A (n.2915+1G>A) c.587G>A n.215+822G>A n.3217+1G>A c.4235+1G>A (n.4235+1G>A) c.3863+1G>A (n.3863+1G>A) c.4133+822G>A (n.4133+822G>A) c.4226+1G>A (n.4226+1G>A) c.3527+1G>A (n.3527+1G>A) c.4274+1G>A (n.4274+1G>A) | |
| 16 | g.3739578C>A | CA394564680 | CREBBP | c.4280G>T (p.Arg1427Met) c.4166G>T (p.Arg1389Met) c.2915G>T (p.Arg972Met) c.586G>T n.215+821G>T n.3217G>T c.4235G>T (p.Arg1412Met) c.3863G>T (p.Arg1288Met) c.4133+821G>T (n.4133+821G>T) c.4226G>T (p.Arg1409Met) c.3527G>T (p.Arg1176Met) c.4274G>T (p.Arg1425Met) | dbSNP |
| 16 | g.3739578C>G | CA394564681 | CREBBP | c.4280G>C (p.Arg1427Thr) c.4166G>C (p.Arg1389Thr) c.2915G>C (p.Arg972Thr) c.586G>C n.215+821G>C n.3217G>C c.4235G>C (p.Arg1412Thr) c.3863G>C (p.Arg1288Thr) c.4133+821G>C (n.4133+821G>C) c.4226G>C (p.Arg1409Thr) c.3527G>C (p.Arg1176Thr) c.4274G>C (p.Arg1425Thr) | dbSNP |
| 16 | g.3739578C>T | CA394564682 | CREBBP | c.4280G>A (p.Arg1427Lys) c.4166G>A (p.Arg1389Lys) c.2915G>A (p.Arg972Lys) c.586G>A n.215+821G>A n.3217G>A c.4235G>A (p.Arg1412Lys) c.3863G>A (p.Arg1288Lys) c.4133+821G>A (n.4133+821G>A) c.4226G>A (p.Arg1409Lys) c.3527G>A (p.Arg1176Lys) c.4274G>A (p.Arg1425Lys) | dbSNP |
| 16 | g.3739579T>A | CA394564683 | CREBBP | c.4279A>T (p.Arg1427Trp) c.4165A>T (p.Arg1389Trp) c.2914A>T (p.Arg972Trp) c.585A>T n.215+820A>T n.3216A>T c.4234A>T (p.Arg1412Trp) c.3862A>T (p.Arg1288Trp) c.4133+820A>T (n.4133+820A>T) c.4225A>T (p.Arg1409Trp) c.3526A>T (p.Arg1176Trp) c.4273A>T (p.Arg1425Trp) | dbSNP |
| 16 | g.3739579T>C | CA242550 | CREBBP | c.4279A>G (p.Arg1427Gly) c.4165A>G (p.Arg1389Gly) c.2914A>G (p.Arg972Gly) c.585A>G n.215+820A>G n.3216A>G c.4234A>G (p.Arg1412Gly) c.3862A>G (p.Arg1288Gly) c.4133+820A>G (n.4133+820A>G) c.4225A>G (p.Arg1409Gly) c.3526A>G (p.Arg1176Gly) c.4273A>G (p.Arg1425Gly) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3739579T>G | CA493280071 | CREBBP | c.4279A>C (p.Arg1427=) c.4165A>C (p.Arg1389=) c.2914A>C (p.Arg972=) c.585A>C n.215+820A>C n.3216A>C c.4234A>C (p.Arg1412=) c.3862A>C (p.Arg1288=) c.4133+820A>C (n.4133+820A>C) c.4225A>C (p.Arg1409=) c.3526A>C (p.Arg1176=) c.4273A>C (p.Arg1425=) | |
| 16 | g.3739579T= | CA2202939768 | CREBBP | c.4279A= (p.Arg1427=) c.4165A= (p.Arg1389=) c.2914A= (p.Arg972=) c.585A= n.215+820A= n.3216A= c.4234A= (p.Arg1412=) c.3862A= (p.Arg1288=) c.4133+820A= (n.4133+820A=) c.4225A= (p.Arg1409=) c.3526A= (p.Arg1176=) c.4273A= (p.Arg1425=) | |
| 16 | g.3739580C>A | CA493280073 | CREBBP | c.4278G>T (p.Thr1426=) c.4164G>T (p.Thr1388=) c.2913G>T (p.Thr971=) c.584G>T n.215+819G>T n.3215G>T c.4233G>T (p.Thr1411=) c.3861G>T (p.Thr1287=) c.4133+819G>T (n.4133+819G>T) c.4224G>T (p.Thr1408=) c.3525G>T (p.Thr1175=) c.4272G>T (p.Thr1424=) | dbSNP |
| 16 | g.3739580C= | CA2202939771 | CREBBP | c.4278G= (p.Thr1426=) c.4164G= (p.Thr1388=) c.2913G= (p.Thr971=) c.584G= n.215+819G= n.3215G= c.4233G= (p.Thr1411=) c.3861G= (p.Thr1287=) c.4133+819G= (n.4133+819G=) c.4224G= (p.Thr1408=) c.3525G= (p.Thr1175=) c.4272G= (p.Thr1424=) | |
| 16 | g.3739580C>G | CA493280072 | CREBBP | c.4278G>C (p.Thr1426=) c.4164G>C (p.Thr1388=) c.2913G>C (p.Thr971=) c.584G>C n.215+819G>C n.3215G>C c.4233G>C (p.Thr1411=) c.3861G>C (p.Thr1287=) c.4133+819G>C (n.4133+819G>C) c.4224G>C (p.Thr1408=) c.3525G>C (p.Thr1175=) c.4272G>C (p.Thr1424=) | dbSNP |
| 16 | g.3739580C>T | CA7869574 | CREBBP | c.4278G>A (p.Thr1426=) c.4164G>A (p.Thr1388=) c.2913G>A (p.Thr971=) c.584G>A n.215+819G>A n.3215G>A c.4233G>A (p.Thr1411=) c.3861G>A (p.Thr1287=) c.4133+819G>A (n.4133+819G>A) c.4224G>A (p.Thr1408=) c.3525G>A (p.Thr1175=) c.4272G>A (p.Thr1424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3739581G>A | CA7869575 | CREBBP | c.4277C>T (p.Thr1426Met) c.4163C>T (p.Thr1388Met) c.2912C>T (p.Thr971Met) c.583C>T n.215+818C>T n.3214C>T c.4232C>T (p.Thr1411Met) c.3860C>T (p.Thr1287Met) c.4133+818C>T (n.4133+818C>T) c.4223C>T (p.Thr1408Met) c.3524C>T (p.Thr1175Met) c.4271C>T (p.Thr1424Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3739581G>C | CA394564684 | CREBBP | c.4277C>G (p.Thr1426Arg) c.4163C>G (p.Thr1388Arg) c.2912C>G (p.Thr971Arg) c.583C>G n.215+818C>G n.3214C>G c.4232C>G (p.Thr1411Arg) c.3860C>G (p.Thr1287Arg) c.4133+818C>G (n.4133+818C>G) c.4223C>G (p.Thr1408Arg) c.3524C>G (p.Thr1175Arg) c.4271C>G (p.Thr1424Arg) | ClinVar dbSNP |
| 16 | g.3739581G= | CA2202939781 | CREBBP | c.4277C= (p.Thr1426=) c.4163C= (p.Thr1388=) c.2912C= (p.Thr971=) c.583C= n.215+818C= n.3214C= c.4232C= (p.Thr1411=) c.3860C= (p.Thr1287=) c.4133+818C= (n.4133+818C=) c.4223C= (p.Thr1408=) c.3524C= (p.Thr1175=) c.4271C= (p.Thr1424=) | |
| 16 | g.3739581G>T | CA394564685 | CREBBP | c.4277C>A (p.Thr1426Lys) c.4163C>A (p.Thr1388Lys) c.2912C>A (p.Thr971Lys) c.583C>A n.215+818C>A n.3214C>A c.4232C>A (p.Thr1411Lys) c.3860C>A (p.Thr1287Lys) c.4133+818C>A (n.4133+818C>A) c.4223C>A (p.Thr1408Lys) c.3524C>A (p.Thr1175Lys) c.4271C>A (p.Thr1424Lys) | dbSNP |
| 16 | g.3739582T>A | CA394564686 | CREBBP | c.4276A>T (p.Thr1426Ser) c.4162A>T (p.Thr1388Ser) c.2911A>T (p.Thr971Ser) c.582A>T n.215+817A>T n.3213A>T c.4231A>T (p.Thr1411Ser) c.3859A>T (p.Thr1287Ser) c.4133+817A>T (n.4133+817A>T) c.4222A>T (p.Thr1408Ser) c.3523A>T (p.Thr1175Ser) c.4270A>T (p.Thr1424Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3739582T>C | CA394564688 | CREBBP | c.4276A>G (p.Thr1426Ala) c.4162A>G (p.Thr1388Ala) c.2911A>G (p.Thr971Ala) c.582A>G n.215+817A>G n.3213A>G c.4231A>G (p.Thr1411Ala) c.3859A>G (p.Thr1287Ala) c.4133+817A>G (n.4133+817A>G) c.4222A>G (p.Thr1408Ala) c.3523A>G (p.Thr1175Ala) c.4270A>G (p.Thr1424Ala) | |
| 16 | g.3739582T>G | CA394564687 | CREBBP | c.4276A>C (p.Thr1426Pro) c.4162A>C (p.Thr1388Pro) c.2911A>C (p.Thr971Pro) c.582A>C n.215+817A>C n.3213A>C c.4231A>C (p.Thr1411Pro) c.3859A>C (p.Thr1287Pro) c.4133+817A>C (n.4133+817A>C) c.4222A>C (p.Thr1408Pro) c.3523A>C (p.Thr1175Pro) c.4270A>C (p.Thr1424Pro) | dbSNP |
| 16 | g.3739582T= | CA2202939784 | CREBBP | c.4276A= (p.Thr1426=) c.4162A= (p.Thr1388=) c.2911A= (p.Thr971=) c.582A= n.215+817A= n.3213A= c.4231A= (p.Thr1411=) c.3859A= (p.Thr1287=) c.4133+817A= (n.4133+817A=) c.4222A= (p.Thr1408=) c.3523A= (p.Thr1175=) c.4270A= (p.Thr1424=) | |
| 16 | g.3739583G>A | CA493280074 | CREBBP | c.4275C>T (p.Asn1425=) c.4161C>T (p.Asn1387=) c.2910C>T (p.Asn970=) c.581C>T n.215+816C>T n.3212C>T c.4230C>T (p.Asn1410=) c.3858C>T (p.Asn1286=) c.4133+816C>T (n.4133+816C>T) c.4221C>T (p.Asn1407=) c.3522C>T (p.Asn1174=) c.4269C>T (p.Asn1423=) | gnomAD v4 |
| 16 | g.3739583G>C | CA394564689 | CREBBP | c.4275C>G (p.Asn1425Lys) c.4161C>G (p.Asn1387Lys) c.2910C>G (p.Asn970Lys) c.581C>G n.215+816C>G n.3212C>G c.4230C>G (p.Asn1410Lys) c.3858C>G (p.Asn1286Lys) c.4133+816C>G (n.4133+816C>G) c.4221C>G (p.Asn1407Lys) c.3522C>G (p.Asn1174Lys) c.4269C>G (p.Asn1423Lys) | COSMIC |
| 16 | g.3739583G>T | CA394564690 | CREBBP | c.4275C>A (p.Asn1425Lys) c.4161C>A (p.Asn1387Lys) c.2910C>A (p.Asn970Lys) c.581C>A n.215+816C>A n.3212C>A c.4230C>A (p.Asn1410Lys) c.3858C>A (p.Asn1286Lys) c.4133+816C>A (n.4133+816C>A) c.4221C>A (p.Asn1407Lys) c.3522C>A (p.Asn1174Lys) c.4269C>A (p.Asn1423Lys) | |
| 16 | g.3739584T>A | CA394564691 | CREBBP | c.4274A>T (p.Asn1425Ile) c.4160A>T (p.Asn1387Ile) c.2909A>T (p.Asn970Ile) c.580A>T n.215+815A>T n.3211A>T c.4229A>T (p.Asn1410Ile) c.3857A>T (p.Asn1286Ile) c.4133+815A>T (n.4133+815A>T) c.4220A>T (p.Asn1407Ile) c.3521A>T (p.Asn1174Ile) c.4268A>T (p.Asn1423Ile) | dbSNP |
| 16 | g.3739584T>C | CA394564692 | CREBBP | c.4274A>G (p.Asn1425Ser) c.4160A>G (p.Asn1387Ser) c.2909A>G (p.Asn970Ser) c.580A>G n.215+815A>G n.3211A>G c.4229A>G (p.Asn1410Ser) c.3857A>G (p.Asn1286Ser) c.4133+815A>G (n.4133+815A>G) c.4220A>G (p.Asn1407Ser) c.3521A>G (p.Asn1174Ser) c.4268A>G (p.Asn1423Ser) | dbSNP |
| 16 | g.3739584T>G | CA394564693 | CREBBP | c.4274A>C (p.Asn1425Thr) c.4160A>C (p.Asn1387Thr) c.2909A>C (p.Asn970Thr) c.580A>C n.215+815A>C n.3211A>C c.4229A>C (p.Asn1410Thr) c.3857A>C (p.Asn1286Thr) c.4133+815A>C (n.4133+815A>C) c.4220A>C (p.Asn1407Thr) c.3521A>C (p.Asn1174Thr) c.4268A>C (p.Asn1423Thr) | dbSNP |
| 16 | g.3739586del | CA2695222645 | CREBBP | c.4274del (p.Asn1425ThrfsTer?) c.4160del (p.Asn1387ThrfsTer?) c.2909del (p.Asn970ThrfsTer?) c.580del n.215+815del n.3211del c.4229del (p.Asn1410ThrfsTer?) c.3857del (p.Asn1286ThrfsTer?) c.4133+815del (n.4133+815del) c.4220del (p.Asn1407ThrfsTer?) c.3521del (p.Asn1174ThrfsTer?) c.4268del (p.Asn1423ThrfsTer?) | |
| 16 | g.3739585T>A | CA394564694 | CREBBP | c.4273A>T (p.Asn1425Tyr) c.4159A>T (p.Asn1387Tyr) c.2908A>T (p.Asn970Tyr) c.579A>T n.215+814A>T n.3210A>T c.4228A>T (p.Asn1410Tyr) c.3856A>T (p.Asn1286Tyr) c.4133+814A>T (n.4133+814A>T) c.4219A>T (p.Asn1407Tyr) c.3520A>T (p.Asn1174Tyr) c.4267A>T (p.Asn1423Tyr) | |
| 16 | g.3739585T>C | CA276982475 | CREBBP | c.4273A>G (p.Asn1425Asp) c.4159A>G (p.Asn1387Asp) c.2908A>G (p.Asn970Asp) c.579A>G n.215+814A>G n.3210A>G c.4228A>G (p.Asn1410Asp) c.3856A>G (p.Asn1286Asp) c.4133+814A>G (n.4133+814A>G) c.4219A>G (p.Asn1407Asp) c.3520A>G (p.Asn1174Asp) c.4267A>G (p.Asn1423Asp) | dbSNP gnomAD v4 |
| 16 | g.3739585T>G | CA394564695 | CREBBP | c.4273A>C (p.Asn1425His) c.4159A>C (p.Asn1387His) c.2908A>C (p.Asn970His) c.579A>C n.215+814A>C n.3210A>C c.4228A>C (p.Asn1410His) c.3856A>C (p.Asn1286His) c.4133+814A>C (n.4133+814A>C) c.4219A>C (p.Asn1407His) c.3520A>C (p.Asn1174His) c.4267A>C (p.Asn1423His) | |
| 16 | g.3739585T= | CA2202939786 | CREBBP | c.4273A= (p.Asn1425=) c.4159A= (p.Asn1387=) c.2908A= (p.Asn970=) c.579A= n.215+814A= n.3210A= c.4228A= (p.Asn1410=) c.3856A= (p.Asn1286=) c.4133+814A= (n.4133+814A=) c.4219A= (p.Asn1407=) c.3520A= (p.Asn1174=) c.4267A= (p.Asn1423=) | |
| 16 | g.3739586T>A | CA493280077 | CREBBP | c.4272A>T (p.Pro1424=) c.4158A>T (p.Pro1386=) c.2907A>T (p.Pro969=) c.578A>T n.215+813A>T n.3209A>T c.4227A>T (p.Pro1409=) c.3855A>T (p.Pro1285=) c.4133+813A>T (n.4133+813A>T) c.4218A>T (p.Pro1406=) c.3519A>T (p.Pro1173=) c.4266A>T (p.Pro1422=) | |
| 16 | g.3739586T>C | CA493280075 | CREBBP | c.4272A>G (p.Pro1424=) c.4158A>G (p.Pro1386=) c.2907A>G (p.Pro969=) c.578A>G n.215+813A>G n.3209A>G c.4227A>G (p.Pro1409=) c.3855A>G (p.Pro1285=) c.4133+813A>G (n.4133+813A>G) c.4218A>G (p.Pro1406=) c.3519A>G (p.Pro1173=) c.4266A>G (p.Pro1422=) | |
| 16 | g.3739586T>G | CA493280076 | CREBBP | c.4272A>C (p.Pro1424=) c.4158A>C (p.Pro1386=) c.2907A>C (p.Pro969=) c.578A>C n.215+813A>C n.3209A>C c.4227A>C (p.Pro1409=) c.3855A>C (p.Pro1285=) c.4133+813A>C (n.4133+813A>C) c.4218A>C (p.Pro1406=) c.3519A>C (p.Pro1173=) c.4266A>C (p.Pro1422=) | gnomAD v4 |
| 16 | g.3739587G>A | CA394564696 | CREBBP | c.4271C>T (p.Pro1424Leu) c.4157C>T (p.Pro1386Leu) c.2906C>T (p.Pro969Leu) c.577C>T n.215+812C>T n.3208C>T c.4226C>T (p.Pro1409Leu) c.3854C>T (p.Pro1285Leu) c.4133+812C>T (n.4133+812C>T) c.4217C>T (p.Pro1406Leu) c.3518C>T (p.Pro1173Leu) c.4265C>T (p.Pro1422Leu) | dbSNP COSMIC |
| 16 | g.3739587G>C | CA394564697 | CREBBP | c.4271C>G (p.Pro1424Arg) c.4157C>G (p.Pro1386Arg) c.2906C>G (p.Pro969Arg) c.577C>G n.215+812C>G n.3208C>G c.4226C>G (p.Pro1409Arg) c.3854C>G (p.Pro1285Arg) c.4133+812C>G (n.4133+812C>G) c.4217C>G (p.Pro1406Arg) c.3518C>G (p.Pro1173Arg) c.4265C>G (p.Pro1422Arg) | dbSNP |
| 16 | g.3739587G>T | CA394564698 | CREBBP | c.4271C>A (p.Pro1424Gln) c.4157C>A (p.Pro1386Gln) c.2906C>A (p.Pro969Gln) c.577C>A n.215+812C>A n.3208C>A c.4226C>A (p.Pro1409Gln) c.3854C>A (p.Pro1285Gln) c.4133+812C>A (n.4133+812C>A) c.4217C>A (p.Pro1406Gln) c.3518C>A (p.Pro1173Gln) c.4265C>A (p.Pro1422Gln) | dbSNP |