Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3736724G>A | CA394563666 | CREBBP | c.4486C>T (p.Pro1496Ser) c.4372C>T (p.Pro1458Ser) c.3121C>T (p.Pro1041Ser) n.276C>T n.307C>T n.3309C>T c.4441C>T (p.Pro1481Ser) c.4069C>T (p.Pro1357Ser) c.4225C>T (p.Pro1409Ser) c.4432C>T (p.Pro1478Ser) c.3733C>T (p.Pro1245Ser) c.4480C>T (p.Pro1494Ser) | dbSNP |
16 | g.3736724G>C | CA394563668 | CREBBP | c.4486C>G (p.Pro1496Ala) c.4372C>G (p.Pro1458Ala) c.3121C>G (p.Pro1041Ala) n.276C>G n.307C>G n.3309C>G c.4441C>G (p.Pro1481Ala) c.4069C>G (p.Pro1357Ala) c.4225C>G (p.Pro1409Ala) c.4432C>G (p.Pro1478Ala) c.3733C>G (p.Pro1245Ala) c.4480C>G (p.Pro1494Ala) | dbSNP |
16 | g.3736724G>T | CA394563671 | CREBBP | c.4486C>A (p.Pro1496Thr) c.4372C>A (p.Pro1458Thr) c.3121C>A (p.Pro1041Thr) n.276C>A n.307C>A n.3309C>A c.4441C>A (p.Pro1481Thr) c.4069C>A (p.Pro1357Thr) c.4225C>A (p.Pro1409Thr) c.4432C>A (p.Pro1478Thr) c.3733C>A (p.Pro1245Thr) c.4480C>A (p.Pro1494Thr) | dbSNP |
16 | g.3736725del | CA2631401615 | CREBBP | c.4485del (p.Lys1495AsnfsTer?) c.4371del (p.Lys1457AsnfsTer?) c.3120del (p.Lys1040AsnfsTer?) n.275del n.306del n.3308del c.4440del (p.Lys1480AsnfsTer?) c.4068del (p.Lys1356AsnfsTer?) c.4224del (p.Lys1408AsnfsTer?) c.4431del (p.Lys1477AsnfsTer?) c.3732del (p.Lys1244AsnfsTer?) c.4479del (p.Lys1493AsnfsTer?) | gnomAD v4 |
16 | g.3736725C>A | CA394563672 | CREBBP | c.4485G>T (p.Lys1495Asn) c.4371G>T (p.Lys1457Asn) c.3120G>T (p.Lys1040Asn) n.275G>T n.306G>T n.3308G>T c.4440G>T (p.Lys1480Asn) c.4068G>T (p.Lys1356Asn) c.4224G>T (p.Lys1408Asn) c.4431G>T (p.Lys1477Asn) c.3732G>T (p.Lys1244Asn) c.4479G>T (p.Lys1493Asn) | dbSNP |
16 | g.3736725C>G | CA394563675 | CREBBP | c.4485G>C (p.Lys1495Asn) c.4371G>C (p.Lys1457Asn) c.3120G>C (p.Lys1040Asn) n.275G>C n.306G>C n.3308G>C c.4440G>C (p.Lys1480Asn) c.4068G>C (p.Lys1356Asn) c.4224G>C (p.Lys1408Asn) c.4431G>C (p.Lys1477Asn) c.3732G>C (p.Lys1244Asn) c.4479G>C (p.Lys1493Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3736725C>T | CA493279352 | CREBBP | c.4485G>A (p.Lys1495=) c.4371G>A (p.Lys1457=) c.3120G>A (p.Lys1040=) n.275G>A n.306G>A n.3308G>A c.4440G>A (p.Lys1480=) c.4068G>A (p.Lys1356=) c.4224G>A (p.Lys1408=) c.4431G>A (p.Lys1477=) c.3732G>A (p.Lys1244=) c.4479G>A (p.Lys1493=) | dbSNP |
16 | g.3736726T>A | CA394563679 | CREBBP | c.4484A>T (p.Lys1495Met) c.4370A>T (p.Lys1457Met) c.3119A>T (p.Lys1040Met) n.274A>T n.305A>T n.3307A>T c.4439A>T (p.Lys1480Met) c.4067A>T (p.Lys1356Met) c.4223A>T (p.Lys1408Met) c.4430A>T (p.Lys1477Met) c.3731A>T (p.Lys1244Met) c.4478A>T (p.Lys1493Met) | dbSNP |
16 | g.3736726T>C | CA394563676 | CREBBP | c.4484A>G (p.Lys1495Arg) c.4370A>G (p.Lys1457Arg) c.3119A>G (p.Lys1040Arg) n.274A>G n.305A>G n.3307A>G c.4439A>G (p.Lys1480Arg) c.4067A>G (p.Lys1356Arg) c.4223A>G (p.Lys1408Arg) c.4430A>G (p.Lys1477Arg) c.3731A>G (p.Lys1244Arg) c.4478A>G (p.Lys1493Arg) | dbSNP |
16 | g.3736726T>G | CA394563678 | CREBBP | c.4484A>C (p.Lys1495Thr) c.4370A>C (p.Lys1457Thr) c.3119A>C (p.Lys1040Thr) n.274A>C n.305A>C n.3307A>C c.4439A>C (p.Lys1480Thr) c.4067A>C (p.Lys1356Thr) c.4223A>C (p.Lys1408Thr) c.4430A>C (p.Lys1477Thr) c.3731A>C (p.Lys1244Thr) c.4478A>C (p.Lys1493Thr) | ClinVar gnomAD v4 |
16 | g.3736726T= | CA2202936645 | CREBBP | c.4484A= (p.Lys1495=) c.4370A= (p.Lys1457=) c.3119A= (p.Lys1040=) n.274A= n.305A= n.3307A= c.4439A= (p.Lys1480=) c.4067A= (p.Lys1356=) c.4223A= (p.Lys1408=) c.4430A= (p.Lys1477=) c.3731A= (p.Lys1244=) c.4478A= (p.Lys1493=) | |
16 | g.3736727T>A | CA394563682 | CREBBP | c.4483A>T (p.Lys1495Ter) c.4369A>T (p.Lys1457Ter) c.3118A>T (p.Lys1040Ter) n.273A>T n.304A>T n.3306A>T c.4438A>T (p.Lys1480Ter) c.4066A>T (p.Lys1356Ter) c.4222A>T (p.Lys1408Ter) c.4429A>T (p.Lys1477Ter) c.3730A>T (p.Lys1244Ter) c.4477A>T (p.Lys1493Ter) | COSMIC |
16 | g.3736727T>C | CA394563684 | CREBBP | c.4483A>G (p.Lys1495Glu) c.4369A>G (p.Lys1457Glu) c.3118A>G (p.Lys1040Glu) n.273A>G n.304A>G n.3306A>G c.4438A>G (p.Lys1480Glu) c.4066A>G (p.Lys1356Glu) c.4222A>G (p.Lys1408Glu) c.4429A>G (p.Lys1477Glu) c.3730A>G (p.Lys1244Glu) c.4477A>G (p.Lys1493Glu) | |
16 | g.3736727T>G | CA394563686 | CREBBP | c.4483A>C (p.Lys1495Gln) c.4369A>C (p.Lys1457Gln) c.3118A>C (p.Lys1040Gln) n.273A>C n.304A>C n.3306A>C c.4438A>C (p.Lys1480Gln) c.4066A>C (p.Lys1356Gln) c.4222A>C (p.Lys1408Gln) c.4429A>C (p.Lys1477Gln) c.3730A>C (p.Lys1244Gln) c.4477A>C (p.Lys1493Gln) | |
16 | g.3736728G>A | CA493279361 | CREBBP | c.4482C>T (p.Pro1494=) c.4368C>T (p.Pro1456=) c.3117C>T (p.Pro1039=) n.272C>T n.303C>T n.3305C>T c.4437C>T (p.Pro1479=) c.4065C>T (p.Pro1355=) c.4221C>T (p.Pro1407=) c.4428C>T (p.Pro1476=) c.3729C>T (p.Pro1243=) c.4476C>T (p.Pro1492=) | dbSNP |
16 | g.3736728G>C | CA493279362 | CREBBP | c.4482C>G (p.Pro1494=) c.4368C>G (p.Pro1456=) c.3117C>G (p.Pro1039=) n.272C>G n.303C>G n.3305C>G c.4437C>G (p.Pro1479=) c.4065C>G (p.Pro1355=) c.4221C>G (p.Pro1407=) c.4428C>G (p.Pro1476=) c.3729C>G (p.Pro1243=) c.4476C>G (p.Pro1492=) | |
16 | g.3736728G>T | CA493279363 | CREBBP | c.4482C>A (p.Pro1494=) c.4368C>A (p.Pro1456=) c.3117C>A (p.Pro1039=) n.272C>A n.303C>A n.3305C>A c.4437C>A (p.Pro1479=) c.4065C>A (p.Pro1355=) c.4221C>A (p.Pro1407=) c.4428C>A (p.Pro1476=) c.3729C>A (p.Pro1243=) c.4476C>A (p.Pro1492=) | dbSNP |
16 | g.3736730dup | CA2695222629 | CREBBP | c.4482dup (p.Lys1495GlnfsTer24) c.4368dup (p.Lys1457GlnfsTer24) c.3117dup (p.Lys1040GlnfsTer24) n.272dup n.303dup n.3305dup c.4437dup (p.Lys1480GlnfsTer24) c.4065dup (p.Lys1356GlnfsTer24) c.4221dup (p.Lys1408GlnfsTer24) c.4428dup (p.Lys1477GlnfsTer24) c.3729dup (p.Lys1244GlnfsTer24) c.4476dup (p.Lys1493GlnfsTer24) | |
16 | g.3736730del | CA2580091147 | CREBBP | c.4482del (p.Lys1495SerfsTer?) c.4368del (p.Lys1457SerfsTer?) c.3117del (p.Lys1040SerfsTer?) n.272del n.303del n.3305del c.4437del (p.Lys1480SerfsTer?) c.4065del (p.Lys1356SerfsTer?) c.4221del (p.Lys1408SerfsTer?) c.4428del (p.Lys1477SerfsTer?) c.3729del (p.Lys1244SerfsTer?) c.4476del (p.Lys1493SerfsTer?) | ClinVar dbSNP |
16 | g.3736729G>A | CA394563689 | CREBBP | c.4481C>T (p.Pro1494Leu) c.4367C>T (p.Pro1456Leu) c.3116C>T (p.Pro1039Leu) n.271C>T n.302C>T n.3304C>T c.4436C>T (p.Pro1479Leu) c.4064C>T (p.Pro1355Leu) c.4220C>T (p.Pro1407Leu) c.4427C>T (p.Pro1476Leu) c.3728C>T (p.Pro1243Leu) c.4475C>T (p.Pro1492Leu) | dbSNP |
16 | g.3736729G>C | CA222697 | CREBBP | c.4481C>G (p.Pro1494Arg) c.4367C>G (p.Pro1456Arg) c.3116C>G (p.Pro1039Arg) n.271C>G n.302C>G n.3304C>G c.4436C>G (p.Pro1479Arg) c.4064C>G (p.Pro1355Arg) c.4220C>G (p.Pro1407Arg) c.4427C>G (p.Pro1476Arg) c.3728C>G (p.Pro1243Arg) c.4475C>G (p.Pro1492Arg) | ClinVar dbSNP |
16 | g.3736729G= | CA2202936648 | CREBBP | c.4481C= (p.Pro1494=) c.4367C= (p.Pro1456=) c.3116C= (p.Pro1039=) n.271C= n.302C= n.3304C= c.4436C= (p.Pro1479=) c.4064C= (p.Pro1355=) c.4220C= (p.Pro1407=) c.4427C= (p.Pro1476=) c.3728C= (p.Pro1243=) c.4475C= (p.Pro1492=) | |
16 | g.3736729G>T | CA394563693 | CREBBP | c.4481C>A (p.Pro1494His) c.4367C>A (p.Pro1456His) c.3116C>A (p.Pro1039His) n.271C>A n.302C>A n.3304C>A c.4436C>A (p.Pro1479His) c.4064C>A (p.Pro1355His) c.4220C>A (p.Pro1407His) c.4427C>A (p.Pro1476His) c.3728C>A (p.Pro1243His) c.4475C>A (p.Pro1492His) | dbSNP |
16 | g.3736730G>A | CA394563695 | CREBBP | c.4480C>T (p.Pro1494Ser) c.4366C>T (p.Pro1456Ser) c.3115C>T (p.Pro1039Ser) n.270C>T n.301C>T n.3303C>T c.4435C>T (p.Pro1479Ser) c.4063C>T (p.Pro1355Ser) c.4219C>T (p.Pro1407Ser) c.4426C>T (p.Pro1476Ser) c.3727C>T (p.Pro1243Ser) c.4474C>T (p.Pro1492Ser) | ClinVar dbSNP |
16 | g.3736730G>C | CA394563697 | CREBBP | c.4480C>G (p.Pro1494Ala) c.4366C>G (p.Pro1456Ala) c.3115C>G (p.Pro1039Ala) n.270C>G n.301C>G n.3303C>G c.4435C>G (p.Pro1479Ala) c.4063C>G (p.Pro1355Ala) c.4219C>G (p.Pro1407Ala) c.4426C>G (p.Pro1476Ala) c.3727C>G (p.Pro1243Ala) c.4474C>G (p.Pro1492Ala) | dbSNP |
16 | g.3736730G= | CA2202936653 | CREBBP | c.4480C= (p.Pro1494=) c.4366C= (p.Pro1456=) c.3115C= (p.Pro1039=) n.270C= n.301C= n.3303C= c.4435C= (p.Pro1479=) c.4063C= (p.Pro1355=) c.4219C= (p.Pro1407=) c.4426C= (p.Pro1476=) c.3727C= (p.Pro1243=) c.4474C= (p.Pro1492=) | |
16 | g.3736730G>T | CA276980075 | CREBBP | c.4480C>A (p.Pro1494Thr) c.4366C>A (p.Pro1456Thr) c.3115C>A (p.Pro1039Thr) n.270C>A n.301C>A n.3303C>A c.4435C>A (p.Pro1479Thr) c.4063C>A (p.Pro1355Thr) c.4219C>A (p.Pro1407Thr) c.4426C>A (p.Pro1476Thr) c.3727C>A (p.Pro1243Thr) c.4474C>A (p.Pro1492Thr) | dbSNP COSMIC |
16 | g.3736731T>A | CA493279376 | CREBBP | c.4479A>T (p.Ile1493=) c.4365A>T (p.Ile1455=) c.3114A>T (p.Ile1038=) n.269A>T n.300A>T n.3302A>T c.4434A>T (p.Ile1478=) c.4062A>T (p.Ile1354=) c.4218A>T (p.Ile1406=) c.4425A>T (p.Ile1475=) c.3726A>T (p.Ile1242=) c.4473A>T (p.Ile1491=) | dbSNP |
16 | g.3736731T>C | CA394563699 | CREBBP | c.4479A>G (p.Ile1493Met) c.4365A>G (p.Ile1455Met) c.3114A>G (p.Ile1038Met) n.269A>G n.300A>G n.3302A>G c.4434A>G (p.Ile1478Met) c.4062A>G (p.Ile1354Met) c.4218A>G (p.Ile1406Met) c.4425A>G (p.Ile1475Met) c.3726A>G (p.Ile1242Met) c.4473A>G (p.Ile1491Met) | dbSNP |
16 | g.3736731T>G | CA493279380 | CREBBP | c.4479A>C (p.Ile1493=) c.4365A>C (p.Ile1455=) c.3114A>C (p.Ile1038=) n.269A>C n.300A>C n.3302A>C c.4434A>C (p.Ile1478=) c.4062A>C (p.Ile1354=) c.4218A>C (p.Ile1406=) c.4425A>C (p.Ile1475=) c.3726A>C (p.Ile1242=) c.4473A>C (p.Ile1491=) | dbSNP gnomAD v4 |
16 | g.3736731T= | CA2202936657 | CREBBP | c.4479A= (p.Ile1493=) c.4365A= (p.Ile1455=) c.3114A= (p.Ile1038=) n.269A= n.300A= n.3302A= c.4434A= (p.Ile1478=) c.4062A= (p.Ile1354=) c.4218A= (p.Ile1406=) c.4425A= (p.Ile1475=) c.3726A= (p.Ile1242=) c.4473A= (p.Ile1491=) | |
16 | g.3736731dup | CA645575176 | CREBBP | c.4479dup (p.Pro1494ThrfsTer25) c.4365dup (p.Pro1456ThrfsTer25) c.3114dup (p.Pro1039ThrfsTer25) n.269dup n.300dup n.3302dup c.4434dup (p.Pro1479ThrfsTer25) c.4062dup (p.Pro1355ThrfsTer25) c.4218dup (p.Pro1407ThrfsTer25) c.4425dup (p.Pro1476ThrfsTer25) c.3726dup (p.Pro1243ThrfsTer25) c.4473dup (p.Pro1492ThrfsTer25) | COSMIC |
16 | g.3736732A>C | CA394563707 | CREBBP | c.4478T>G (p.Ile1493Arg) c.4364T>G (p.Ile1455Arg) c.3113T>G (p.Ile1038Arg) n.268T>G n.299T>G n.3301T>G c.4433T>G (p.Ile1478Arg) c.4061T>G (p.Ile1354Arg) c.4217T>G (p.Ile1406Arg) c.4424T>G (p.Ile1475Arg) c.3725T>G (p.Ile1242Arg) c.4472T>G (p.Ile1491Arg) | |
16 | g.3736732A>G | CA394563704 | CREBBP | c.4478T>C (p.Ile1493Thr) c.4364T>C (p.Ile1455Thr) c.3113T>C (p.Ile1038Thr) n.268T>C n.299T>C n.3301T>C c.4433T>C (p.Ile1478Thr) c.4061T>C (p.Ile1354Thr) c.4217T>C (p.Ile1406Thr) c.4424T>C (p.Ile1475Thr) c.3725T>C (p.Ile1242Thr) c.4472T>C (p.Ile1491Thr) | |
16 | g.3736732A>T | CA394563702 | CREBBP | c.4478T>A (p.Ile1493Lys) c.4364T>A (p.Ile1455Lys) c.3113T>A (p.Ile1038Lys) n.268T>A n.299T>A n.3301T>A c.4433T>A (p.Ile1478Lys) c.4061T>A (p.Ile1354Lys) c.4217T>A (p.Ile1406Lys) c.4424T>A (p.Ile1475Lys) c.3725T>A (p.Ile1242Lys) c.4472T>A (p.Ile1491Lys) | gnomAD v4 COSMIC |
16 | g.3736733T>A | CA394563710 | CREBBP | c.4477A>T (p.Ile1493Leu) c.4363A>T (p.Ile1455Leu) c.3112A>T (p.Ile1038Leu) n.267A>T n.298A>T n.3300A>T c.4432A>T (p.Ile1478Leu) c.4060A>T (p.Ile1354Leu) c.4216A>T (p.Ile1406Leu) c.4423A>T (p.Ile1475Leu) c.3724A>T (p.Ile1242Leu) c.4471A>T (p.Ile1491Leu) | |
16 | g.3736733T>C | CA394563711 | CREBBP | c.4477A>G (p.Ile1493Val) c.4363A>G (p.Ile1455Val) c.3112A>G (p.Ile1038Val) n.267A>G n.298A>G n.3300A>G c.4432A>G (p.Ile1478Val) c.4060A>G (p.Ile1354Val) c.4216A>G (p.Ile1406Val) c.4423A>G (p.Ile1475Val) c.3724A>G (p.Ile1242Val) c.4471A>G (p.Ile1491Val) | |
16 | g.3736733T>G | CA394563714 | CREBBP | c.4477A>C (p.Ile1493Leu) c.4363A>C (p.Ile1455Leu) c.3112A>C (p.Ile1038Leu) n.267A>C n.298A>C n.3300A>C c.4432A>C (p.Ile1478Leu) c.4060A>C (p.Ile1354Leu) c.4216A>C (p.Ile1406Leu) c.4423A>C (p.Ile1475Leu) c.3724A>C (p.Ile1242Leu) c.4471A>C (p.Ile1491Leu) | |
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) | ClinVar 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 |
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 |
16 | g.3736754A>C | CA394563862 | CREBBP | c.4456T>G (p.Cys1486Gly) c.4342T>G (p.Cys1448Gly) c.3091T>G (p.Cys1031Gly) n.246T>G n.277T>G n.3279T>G c.4411T>G (p.Cys1471Gly) c.4039T>G (p.Cys1347Gly) c.4195T>G (p.Cys1399Gly) c.4402T>G (p.Cys1468Gly) c.3703T>G (p.Cys1235Gly) c.4450T>G (p.Cys1484Gly) | |
16 | g.3736754A>G | CA394563864 | CREBBP | c.4456T>C (p.Cys1486Arg) c.4342T>C (p.Cys1448Arg) c.3091T>C (p.Cys1031Arg) n.246T>C n.277T>C n.3279T>C c.4411T>C (p.Cys1471Arg) c.4039T>C (p.Cys1347Arg) c.4195T>C (p.Cys1399Arg) c.4402T>C (p.Cys1468Arg) c.3703T>C (p.Cys1235Arg) c.4450T>C (p.Cys1484Arg) | dbSNP |
16 | g.3736754A>T | CA394563866 | CREBBP | c.4456T>A (p.Cys1486Ser) c.4342T>A (p.Cys1448Ser) c.3091T>A (p.Cys1031Ser) n.246T>A n.277T>A n.3279T>A c.4411T>A (p.Cys1471Ser) c.4039T>A (p.Cys1347Ser) c.4195T>A (p.Cys1399Ser) c.4402T>A (p.Cys1468Ser) c.3703T>A (p.Cys1235Ser) c.4450T>A (p.Cys1484Ser) | dbSNP |
16 | g.3736755A>C | CA394563868 | CREBBP | c.4455T>G (p.His1485Gln) c.4341T>G (p.His1447Gln) c.3090T>G (p.His1030Gln) n.245T>G n.276T>G n.3278T>G c.4410T>G (p.His1470Gln) c.4038T>G (p.His1346Gln) c.4194T>G (p.His1398Gln) c.4401T>G (p.His1467Gln) c.3702T>G (p.His1234Gln) c.4449T>G (p.His1483Gln) | |
16 | g.3736755A>G | CA493279470 | CREBBP | c.4455T>C (p.His1485=) c.4341T>C (p.His1447=) c.3090T>C (p.His1030=) n.245T>C n.276T>C n.3278T>C c.4410T>C (p.His1470=) c.4038T>C (p.His1346=) c.4194T>C (p.His1398=) c.4401T>C (p.His1467=) c.3702T>C (p.His1234=) c.4449T>C (p.His1483=) | COSMIC |
16 | g.3736755A>T | CA394563869 | CREBBP | c.4455T>A (p.His1485Gln) c.4341T>A (p.His1447Gln) c.3090T>A (p.His1030Gln) n.245T>A n.276T>A n.3278T>A c.4410T>A (p.His1470Gln) c.4038T>A (p.His1346Gln) c.4194T>A (p.His1398Gln) c.4401T>A (p.His1467Gln) c.3702T>A (p.His1234Gln) c.4449T>A (p.His1483Gln) | dbSNP |
16 | g.3736756T>A | CA394563871 | CREBBP | c.4454A>T (p.His1485Leu) c.4340A>T (p.His1447Leu) c.3089A>T (p.His1030Leu) n.244A>T n.275A>T n.3277A>T c.4409A>T (p.His1470Leu) c.4037A>T (p.His1346Leu) c.4193A>T (p.His1398Leu) c.4400A>T (p.His1467Leu) c.3701A>T (p.His1234Leu) c.4448A>T (p.His1483Leu) | |
16 | g.3736756T>C | CA394563873 | CREBBP | c.4454A>G (p.His1485Arg) c.4340A>G (p.His1447Arg) c.3089A>G (p.His1030Arg) n.244A>G n.275A>G n.3277A>G c.4409A>G (p.His1470Arg) c.4037A>G (p.His1346Arg) c.4193A>G (p.His1398Arg) c.4400A>G (p.His1467Arg) c.3701A>G (p.His1234Arg) c.4448A>G (p.His1483Arg) | |
16 | g.3736756T>G | CA394563870 | CREBBP | c.4454A>C (p.His1485Pro) c.4340A>C (p.His1447Pro) c.3089A>C (p.His1030Pro) n.244A>C n.275A>C n.3277A>C c.4409A>C (p.His1470Pro) c.4037A>C (p.His1346Pro) c.4193A>C (p.His1398Pro) c.4400A>C (p.His1467Pro) c.3701A>C (p.His1234Pro) c.4448A>C (p.His1483Pro) | |
16 | g.3736757G>A | CA394563876 | CREBBP | c.4453C>T (p.His1485Tyr) c.4339C>T (p.His1447Tyr) c.3088C>T (p.His1030Tyr) n.243C>T n.274C>T n.3276C>T c.4408C>T (p.His1470Tyr) c.4036C>T (p.His1346Tyr) c.4192C>T (p.His1398Tyr) c.4399C>T (p.His1467Tyr) c.3700C>T (p.His1234Tyr) c.4447C>T (p.His1483Tyr) | |
16 | g.3736757G>C | CA394563878 | CREBBP | c.4453C>G (p.His1485Asp) c.4339C>G (p.His1447Asp) c.3088C>G (p.His1030Asp) n.243C>G n.274C>G n.3276C>G c.4408C>G (p.His1470Asp) c.4036C>G (p.His1346Asp) c.4192C>G (p.His1398Asp) c.4399C>G (p.His1467Asp) c.3700C>G (p.His1234Asp) c.4447C>G (p.His1483Asp) | |
16 | g.3736757G>T | CA394563880 | CREBBP | c.4453C>A (p.His1485Asn) c.4339C>A (p.His1447Asn) c.3088C>A (p.His1030Asn) n.243C>A n.274C>A n.3276C>A c.4408C>A (p.His1470Asn) c.4036C>A (p.His1346Asn) c.4192C>A (p.His1398Asn) c.4399C>A (p.His1467Asn) c.3700C>A (p.His1234Asn) c.4447C>A (p.His1483Asn) | gnomAD v4 |
16 | g.3736758G>A | CA7869516 | CREBBP | c.4452C>T (p.Phe1484=) c.4338C>T (p.Phe1446=) c.3087C>T (p.Phe1029=) n.242C>T n.273C>T n.3275C>T c.4407C>T (p.Phe1469=) c.4035C>T (p.Phe1345=) c.4191C>T (p.Phe1397=) c.4398C>T (p.Phe1466=) c.3699C>T (p.Phe1233=) c.4446C>T (p.Phe1482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3736758G>C | CA394563883 | CREBBP | c.4452C>G (p.Phe1484Leu) c.4338C>G (p.Phe1446Leu) c.3087C>G (p.Phe1029Leu) n.242C>G n.273C>G n.3275C>G c.4407C>G (p.Phe1469Leu) c.4035C>G (p.Phe1345Leu) c.4191C>G (p.Phe1397Leu) c.4398C>G (p.Phe1466Leu) c.3699C>G (p.Phe1233Leu) c.4446C>G (p.Phe1482Leu) | dbSNP |
16 | g.3736758G= | CA2202936685 | CREBBP | c.4452C= (p.Phe1484=) c.4338C= (p.Phe1446=) c.3087C= (p.Phe1029=) n.242C= n.273C= n.3275C= c.4407C= (p.Phe1469=) c.4035C= (p.Phe1345=) c.4191C= (p.Phe1397=) c.4398C= (p.Phe1466=) c.3699C= (p.Phe1233=) c.4446C= (p.Phe1482=) | |
16 | g.3736758G>T | CA394563885 | CREBBP | c.4452C>A (p.Phe1484Leu) c.4338C>A (p.Phe1446Leu) c.3087C>A (p.Phe1029Leu) n.242C>A n.273C>A n.3275C>A c.4407C>A (p.Phe1469Leu) c.4035C>A (p.Phe1345Leu) c.4191C>A (p.Phe1397Leu) c.4398C>A (p.Phe1466Leu) c.3699C>A (p.Phe1233Leu) c.4446C>A (p.Phe1482Leu) | dbSNP |
16 | g.3736759A>C | CA394563887 | CREBBP | c.4451T>G (p.Phe1484Cys) c.4337T>G (p.Phe1446Cys) c.3086T>G (p.Phe1029Cys) n.241T>G n.272T>G n.3274T>G c.4406T>G (p.Phe1469Cys) c.4034T>G (p.Phe1345Cys) c.4190T>G (p.Phe1397Cys) c.4397T>G (p.Phe1466Cys) c.3698T>G (p.Phe1233Cys) c.4445T>G (p.Phe1482Cys) | COSMIC |
16 | g.3736759A>G | CA394563889 | CREBBP | c.4451T>C (p.Phe1484Ser) c.4337T>C (p.Phe1446Ser) c.3086T>C (p.Phe1029Ser) n.241T>C n.272T>C n.3274T>C c.4406T>C (p.Phe1469Ser) c.4034T>C (p.Phe1345Ser) c.4190T>C (p.Phe1397Ser) c.4397T>C (p.Phe1466Ser) c.3698T>C (p.Phe1233Ser) c.4445T>C (p.Phe1482Ser) | |
16 | g.3736759A>T | CA394563890 | CREBBP | c.4451T>A (p.Phe1484Tyr) c.4337T>A (p.Phe1446Tyr) c.3086T>A (p.Phe1029Tyr) n.241T>A n.272T>A n.3274T>A c.4406T>A (p.Phe1469Tyr) c.4034T>A (p.Phe1345Tyr) c.4190T>A (p.Phe1397Tyr) c.4397T>A (p.Phe1466Tyr) c.3698T>A (p.Phe1233Tyr) c.4445T>A (p.Phe1482Tyr) | |
16 | g.3736760A>C | CA394563893 | CREBBP | c.4450T>G (p.Phe1484Val) c.4336T>G (p.Phe1446Val) c.3085T>G (p.Phe1029Val) n.240T>G n.271T>G n.3273T>G c.4405T>G (p.Phe1469Val) c.4033T>G (p.Phe1345Val) c.4189T>G (p.Phe1397Val) c.4396T>G (p.Phe1466Val) c.3697T>G (p.Phe1233Val) c.4444T>G (p.Phe1482Val) | COSMIC |
16 | g.3736760A>G | CA394563894 | CREBBP | c.4450T>C (p.Phe1484Leu) c.4336T>C (p.Phe1446Leu) c.3085T>C (p.Phe1029Leu) n.240T>C n.271T>C n.3273T>C c.4405T>C (p.Phe1469Leu) c.4033T>C (p.Phe1345Leu) c.4189T>C (p.Phe1397Leu) c.4396T>C (p.Phe1466Leu) c.3697T>C (p.Phe1233Leu) c.4444T>C (p.Phe1482Leu) | |
16 | g.3736760A>T | CA394563896 | CREBBP | c.4450T>A (p.Phe1484Ile) c.4336T>A (p.Phe1446Ile) c.3085T>A (p.Phe1029Ile) n.240T>A n.271T>A n.3273T>A c.4405T>A (p.Phe1469Ile) c.4033T>A (p.Phe1345Ile) c.4189T>A (p.Phe1397Ile) c.4396T>A (p.Phe1466Ile) c.3697T>A (p.Phe1233Ile) c.4444T>A (p.Phe1482Ile) | dbSNP |
16 | g.3736761G>A | CA493279495 | CREBBP | c.4449C>T (p.Ile1483=) c.4335C>T (p.Ile1445=) c.3084C>T (p.Ile1028=) n.239C>T n.270C>T n.3272C>T c.4404C>T (p.Ile1468=) c.4032C>T (p.Ile1344=) c.4188C>T (p.Ile1396=) c.4395C>T (p.Ile1465=) c.3696C>T (p.Ile1232=) c.4443C>T (p.Ile1481=) | dbSNP |
16 | g.3736761G>C | CA394563898 | CREBBP | c.4449C>G (p.Ile1483Met) c.4335C>G (p.Ile1445Met) c.3084C>G (p.Ile1028Met) n.239C>G n.270C>G n.3272C>G c.4404C>G (p.Ile1468Met) c.4032C>G (p.Ile1344Met) c.4188C>G (p.Ile1396Met) c.4395C>G (p.Ile1465Met) c.3696C>G (p.Ile1232Met) c.4443C>G (p.Ile1481Met) | dbSNP |
16 | g.3736761G= | CA2202936686 | CREBBP | c.4449C= (p.Ile1483=) c.4335C= (p.Ile1445=) c.3084C= (p.Ile1028=) n.239C= n.270C= n.3272C= c.4404C= (p.Ile1468=) c.4032C= (p.Ile1344=) c.4188C= (p.Ile1396=) c.4395C= (p.Ile1465=) c.3696C= (p.Ile1232=) c.4443C= (p.Ile1481=) | |
16 | g.3736761G>T | CA493279498 | CREBBP | c.4449C>A (p.Ile1483=) c.4335C>A (p.Ile1445=) c.3084C>A (p.Ile1028=) n.239C>A n.270C>A n.3272C>A c.4404C>A (p.Ile1468=) c.4032C>A (p.Ile1344=) c.4188C>A (p.Ile1396=) c.4395C>A (p.Ile1465=) c.3696C>A (p.Ile1232=) c.4443C>A (p.Ile1481=) | dbSNP |
16 | g.3736762A= | CA2202936687 | CREBBP | c.4448T= (p.Ile1483=) c.4334T= (p.Ile1445=) c.3083T= (p.Ile1028=) n.238T= n.269T= n.3271T= c.4403T= (p.Ile1468=) c.4031T= (p.Ile1344=) c.4187T= (p.Ile1396=) c.4394T= (p.Ile1465=) c.3695T= (p.Ile1232=) c.4442T= (p.Ile1481=) | |
16 | g.3736762A>C | CA394563902 | CREBBP | c.4448T>G (p.Ile1483Ser) c.4334T>G (p.Ile1445Ser) c.3083T>G (p.Ile1028Ser) n.238T>G n.269T>G n.3271T>G c.4403T>G (p.Ile1468Ser) c.4031T>G (p.Ile1344Ser) c.4187T>G (p.Ile1396Ser) c.4394T>G (p.Ile1465Ser) c.3695T>G (p.Ile1232Ser) c.4442T>G (p.Ile1481Ser) | COSMIC |
16 | g.3736762A>G | CA276980092 | CREBBP | c.4448T>C (p.Ile1483Thr) c.4334T>C (p.Ile1445Thr) c.3083T>C (p.Ile1028Thr) n.238T>C n.269T>C n.3271T>C c.4403T>C (p.Ile1468Thr) c.4031T>C (p.Ile1344Thr) c.4187T>C (p.Ile1396Thr) c.4394T>C (p.Ile1465Thr) c.3695T>C (p.Ile1232Thr) c.4442T>C (p.Ile1481Thr) | dbSNP COSMIC |
16 | g.3736762A>T | CA394563900 | CREBBP | c.4448T>A (p.Ile1483Asn) c.4334T>A (p.Ile1445Asn) c.3083T>A (p.Ile1028Asn) n.238T>A n.269T>A n.3271T>A c.4403T>A (p.Ile1468Asn) c.4031T>A (p.Ile1344Asn) c.4187T>A (p.Ile1396Asn) c.4394T>A (p.Ile1465Asn) c.3695T>A (p.Ile1232Asn) c.4442T>A (p.Ile1481Asn) | dbSNP COSMIC |
16 | g.3736763T>A | CA394563904 | CREBBP | c.4447A>T (p.Ile1483Phe) c.4333A>T (p.Ile1445Phe) c.3082A>T (p.Ile1028Phe) n.237A>T n.268A>T n.3270A>T c.4402A>T (p.Ile1468Phe) c.4030A>T (p.Ile1344Phe) c.4186A>T (p.Ile1396Phe) c.4393A>T (p.Ile1465Phe) c.3694A>T (p.Ile1232Phe) c.4441A>T (p.Ile1481Phe) | COSMIC |
16 | g.3736763T>C | CA394563905 | CREBBP | c.4447A>G (p.Ile1483Val) c.4333A>G (p.Ile1445Val) c.3082A>G (p.Ile1028Val) n.237A>G n.268A>G n.3270A>G c.4402A>G (p.Ile1468Val) c.4030A>G (p.Ile1344Val) c.4186A>G (p.Ile1396Val) c.4393A>G (p.Ile1465Val) c.3694A>G (p.Ile1232Val) c.4441A>G (p.Ile1481Val) | dbSNP gnomAD v4 |
16 | g.3736763T>G | CA394563908 | CREBBP | c.4447A>C (p.Ile1483Leu) c.4333A>C (p.Ile1445Leu) c.3082A>C (p.Ile1028Leu) n.237A>C n.268A>C n.3270A>C c.4402A>C (p.Ile1468Leu) c.4030A>C (p.Ile1344Leu) c.4186A>C (p.Ile1396Leu) c.4393A>C (p.Ile1465Leu) c.3694A>C (p.Ile1232Leu) c.4441A>C (p.Ile1481Leu) | |
16 | g.3736764G>A | CA7869517 | CREBBP | c.4446C>T (p.Tyr1482=) c.4332C>T (p.Tyr1444=) c.3081C>T (p.Tyr1027=) n.236C>T n.267C>T n.3269C>T c.4401C>T (p.Tyr1467=) c.4029C>T (p.Tyr1343=) c.4185C>T (p.Tyr1395=) c.4392C>T (p.Tyr1464=) c.3693C>T (p.Tyr1231=) c.4440C>T (p.Tyr1480=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3736764G>C | CA394563910 | CREBBP | c.4446C>G (p.Tyr1482Ter) c.4332C>G (p.Tyr1444Ter) c.3081C>G (p.Tyr1027Ter) n.236C>G n.267C>G n.3269C>G c.4401C>G (p.Tyr1467Ter) c.4029C>G (p.Tyr1343Ter) c.4185C>G (p.Tyr1395Ter) c.4392C>G (p.Tyr1464Ter) c.3693C>G (p.Tyr1231Ter) c.4440C>G (p.Tyr1480Ter) | dbSNP |
16 | g.3736764G= | CA2202936689 | CREBBP | c.4446C= (p.Tyr1482=) c.4332C= (p.Tyr1444=) c.3081C= (p.Tyr1027=) n.236C= n.267C= n.3269C= c.4401C= (p.Tyr1467=) c.4029C= (p.Tyr1343=) c.4185C= (p.Tyr1395=) c.4392C= (p.Tyr1464=) c.3693C= (p.Tyr1231=) c.4440C= (p.Tyr1480=) | |
16 | g.3736764G>T | CA394563913 | CREBBP | c.4446C>A (p.Tyr1482Ter) c.4332C>A (p.Tyr1444Ter) c.3081C>A (p.Tyr1027Ter) n.236C>A n.267C>A n.3269C>A c.4401C>A (p.Tyr1467Ter) c.4029C>A (p.Tyr1343Ter) c.4185C>A (p.Tyr1395Ter) c.4392C>A (p.Tyr1464Ter) c.3693C>A (p.Tyr1231Ter) c.4440C>A (p.Tyr1480Ter) | |
16 | g.3736765T>A | CA394563915 | CREBBP | c.4445A>T (p.Tyr1482Phe) c.4331A>T (p.Tyr1444Phe) c.3080A>T (p.Tyr1027Phe) n.235A>T n.266A>T n.3268A>T c.4400A>T (p.Tyr1467Phe) c.4028A>T (p.Tyr1343Phe) c.4184A>T (p.Tyr1395Phe) c.4391A>T (p.Tyr1464Phe) c.3692A>T (p.Tyr1231Phe) c.4439A>T (p.Tyr1480Phe) | |
16 | g.3736765T>C | CA271417 | CREBBP | c.4445A>G (p.Tyr1482Cys) c.4331A>G (p.Tyr1444Cys) c.3080A>G (p.Tyr1027Cys) n.235A>G n.266A>G n.3268A>G c.4400A>G (p.Tyr1467Cys) c.4028A>G (p.Tyr1343Cys) c.4184A>G (p.Tyr1395Cys) c.4391A>G (p.Tyr1464Cys) c.3692A>G (p.Tyr1231Cys) c.4439A>G (p.Tyr1480Cys) | ClinVar dbSNP COSMIC |
16 | g.3736765T>G | CA394563918 | CREBBP | c.4445A>C (p.Tyr1482Ser) c.4331A>C (p.Tyr1444Ser) c.3080A>C (p.Tyr1027Ser) n.235A>C n.266A>C n.3268A>C c.4400A>C (p.Tyr1467Ser) c.4028A>C (p.Tyr1343Ser) c.4184A>C (p.Tyr1395Ser) c.4391A>C (p.Tyr1464Ser) c.3692A>C (p.Tyr1231Ser) c.4439A>C (p.Tyr1480Ser) | dbSNP COSMIC |
16 | g.3736765T= | CA2202936692 | CREBBP | c.4445A= (p.Tyr1482=) c.4331A= (p.Tyr1444=) c.3080A= (p.Tyr1027=) n.235A= n.266A= n.3268A= c.4400A= (p.Tyr1467=) c.4028A= (p.Tyr1343=) c.4184A= (p.Tyr1395=) c.4391A= (p.Tyr1464=) c.3692A= (p.Tyr1231=) c.4439A= (p.Tyr1480=) | |
16 | g.3736766A= | CA2202936695 | CREBBP | c.4444T= (p.Tyr1482=) c.4330T= (p.Tyr1444=) c.3079T= (p.Tyr1027=) n.234T= n.265T= n.3267T= c.4399T= (p.Tyr1467=) c.4027T= (p.Tyr1343=) c.4183T= (p.Tyr1395=) c.4390T= (p.Tyr1464=) c.3691T= (p.Tyr1231=) c.4438T= (p.Tyr1480=) | |
16 | g.3736766A>C | CA271415 | CREBBP | c.4444T>G (p.Tyr1482Asp) c.4330T>G (p.Tyr1444Asp) c.3079T>G (p.Tyr1027Asp) n.234T>G n.265T>G n.3267T>G c.4399T>G (p.Tyr1467Asp) c.4027T>G (p.Tyr1343Asp) c.4183T>G (p.Tyr1395Asp) c.4390T>G (p.Tyr1464Asp) c.3691T>G (p.Tyr1231Asp) c.4438T>G (p.Tyr1480Asp) | ClinVar dbSNP |
16 | g.3736766A>G | CA394563921 | CREBBP | c.4444T>C (p.Tyr1482His) c.4330T>C (p.Tyr1444His) c.3079T>C (p.Tyr1027His) n.234T>C n.265T>C n.3267T>C c.4399T>C (p.Tyr1467His) c.4027T>C (p.Tyr1343His) c.4183T>C (p.Tyr1395His) c.4390T>C (p.Tyr1464His) c.3691T>C (p.Tyr1231His) c.4438T>C (p.Tyr1480His) | dbSNP gnomAD v4 COSMIC |
16 | g.3736766A>T | CA394563923 | CREBBP | c.4444T>A (p.Tyr1482Asn) c.4330T>A (p.Tyr1444Asn) c.3079T>A (p.Tyr1027Asn) n.234T>A n.265T>A n.3267T>A c.4399T>A (p.Tyr1467Asn) c.4027T>A (p.Tyr1343Asn) c.4183T>A (p.Tyr1395Asn) c.4390T>A (p.Tyr1464Asn) c.3691T>A (p.Tyr1231Asn) c.4438T>A (p.Tyr1480Asn) | dbSNP COSMIC |
16 | g.3736767del | CA2695222630 | CREBBP | c.4444del (p.Tyr1482ThrfsTer?) c.4330del (p.Tyr1444ThrfsTer?) c.3079del (p.Tyr1027ThrfsTer?) n.234del n.265del n.3267del c.4399del (p.Tyr1467ThrfsTer?) c.4027del (p.Tyr1343ThrfsTer?) c.4183del (p.Tyr1395ThrfsTer?) c.4390del (p.Tyr1464ThrfsTer?) c.3691del (p.Tyr1231ThrfsTer?) c.4438del (p.Tyr1480ThrfsTer?) | |
16 | g.3736767A>C | CA394563927 | CREBBP | c.4443T>G (p.Asp1481Glu) c.4329T>G (p.Asp1443Glu) c.3078T>G (p.Asp1026Glu) n.233T>G n.264T>G n.3266T>G c.4398T>G (p.Asp1466Glu) c.4026T>G (p.Asp1342Glu) c.4182T>G (p.Asp1394Glu) c.4389T>G (p.Asp1463Glu) c.3690T>G (p.Asp1230Glu) c.4437T>G (p.Asp1479Glu) | |
16 | g.3736767A>G | CA493279519 | CREBBP | c.4443T>C (p.Asp1481=) c.4329T>C (p.Asp1443=) c.3078T>C (p.Asp1026=) n.233T>C n.264T>C n.3266T>C c.4398T>C (p.Asp1466=) c.4026T>C (p.Asp1342=) c.4182T>C (p.Asp1394=) c.4389T>C (p.Asp1463=) c.3690T>C (p.Asp1230=) c.4437T>C (p.Asp1479=) | |
16 | g.3736767A>T | CA394563925 | CREBBP | c.4443T>A (p.Asp1481Glu) c.4329T>A (p.Asp1443Glu) c.3078T>A (p.Asp1026Glu) n.233T>A n.264T>A n.3266T>A c.4398T>A (p.Asp1466Glu) c.4026T>A (p.Asp1342Glu) c.4182T>A (p.Asp1394Glu) c.4389T>A (p.Asp1463Glu) c.3690T>A (p.Asp1230Glu) c.4437T>A (p.Asp1479Glu) | |
16 | g.3736770_3736772del | CA2580613411 | CREBBP | c.4441_4443del (p.Asp1481del) c.4327_4329del (p.Asp1443del) c.3076_3078del (p.Asp1026del) n.231_233del n.262_264del n.3264_3266del c.4396_4398del (p.Asp1466del) c.4024_4026del (p.Asp1342del) c.4180_4182del (p.Asp1394del) c.4387_4389del (p.Asp1463del) c.3688_3690del (p.Asp1230del) c.4435_4437del (p.Asp1479del) | ClinVar |
16 | g.3736768T>A | CA394563929 | CREBBP | c.4442A>T (p.Asp1481Val) c.4328A>T (p.Asp1443Val) c.3077A>T (p.Asp1026Val) n.232A>T n.263A>T n.3265A>T c.4397A>T (p.Asp1466Val) c.4025A>T (p.Asp1342Val) c.4181A>T (p.Asp1394Val) c.4388A>T (p.Asp1463Val) c.3689A>T (p.Asp1230Val) c.4436A>T (p.Asp1479Val) | dbSNP |
16 | g.3736768T>C | CA394563933 | CREBBP | c.4442A>G (p.Asp1481Gly) c.4328A>G (p.Asp1443Gly) c.3077A>G (p.Asp1026Gly) n.232A>G n.263A>G n.3265A>G c.4397A>G (p.Asp1466Gly) c.4025A>G (p.Asp1342Gly) c.4181A>G (p.Asp1394Gly) c.4388A>G (p.Asp1463Gly) c.3689A>G (p.Asp1230Gly) c.4436A>G (p.Asp1479Gly) | ClinVar dbSNP |
16 | g.3736768T>G | CA394563931 | CREBBP | c.4442A>C (p.Asp1481Ala) c.4328A>C (p.Asp1443Ala) c.3077A>C (p.Asp1026Ala) n.232A>C n.263A>C n.3265A>C c.4397A>C (p.Asp1466Ala) c.4025A>C (p.Asp1342Ala) c.4181A>C (p.Asp1394Ala) c.4388A>C (p.Asp1463Ala) c.3689A>C (p.Asp1230Ala) c.4436A>C (p.Asp1479Ala) | dbSNP |
16 | g.3736769C>A | CA394563935 | CREBBP | c.4441G>T (p.Asp1481Tyr) c.4327G>T (p.Asp1443Tyr) c.3076G>T (p.Asp1026Tyr) n.231G>T n.262G>T n.3264G>T c.4396G>T (p.Asp1466Tyr) c.4024G>T (p.Asp1342Tyr) c.4180G>T (p.Asp1394Tyr) c.4387G>T (p.Asp1463Tyr) c.3688G>T (p.Asp1230Tyr) c.4435G>T (p.Asp1479Tyr) | |
16 | g.3736769C>G | CA394563939 | CREBBP | c.4441G>C (p.Asp1481His) c.4327G>C (p.Asp1443His) c.3076G>C (p.Asp1026His) n.231G>C n.262G>C n.3264G>C c.4396G>C (p.Asp1466His) c.4024G>C (p.Asp1342His) c.4180G>C (p.Asp1394His) c.4387G>C (p.Asp1463His) c.3688G>C (p.Asp1230His) c.4435G>C (p.Asp1479His) | dbSNP |
16 | g.3736769C>T | CA394563936 | CREBBP | c.4441G>A (p.Asp1481Asn) c.4327G>A (p.Asp1443Asn) c.3076G>A (p.Asp1026Asn) n.231G>A n.262G>A n.3264G>A c.4396G>A (p.Asp1466Asn) c.4024G>A (p.Asp1342Asn) c.4180G>A (p.Asp1394Asn) c.4387G>A (p.Asp1463Asn) c.3688G>A (p.Asp1230Asn) c.4435G>A (p.Asp1479Asn) | dbSNP |
16 | g.3736770A= | CA2202936698 | CREBBP | c.4440T= (p.Asp1480=) c.4326T= (p.Asp1442=) c.3075T= (p.Asp1025=) n.230T= n.261T= n.3263T= c.4395T= (p.Asp1465=) c.4023T= (p.Asp1341=) c.4179T= (p.Asp1393=) c.4386T= (p.Asp1462=) c.3687T= (p.Asp1229=) c.4434T= (p.Asp1478=) | |
16 | g.3736770A>C | CA394563941 | CREBBP | c.4440T>G (p.Asp1480Glu) c.4326T>G (p.Asp1442Glu) c.3075T>G (p.Asp1025Glu) n.230T>G n.261T>G n.3263T>G c.4395T>G (p.Asp1465Glu) c.4023T>G (p.Asp1341Glu) c.4179T>G (p.Asp1393Glu) c.4386T>G (p.Asp1462Glu) c.3687T>G (p.Asp1229Glu) c.4434T>G (p.Asp1478Glu) | dbSNP |
16 | g.3736770A>G | CA7869518 | CREBBP | c.4440T>C (p.Asp1480=) c.4326T>C (p.Asp1442=) c.3075T>C (p.Asp1025=) n.230T>C n.261T>C n.3263T>C c.4395T>C (p.Asp1465=) c.4023T>C (p.Asp1341=) c.4179T>C (p.Asp1393=) c.4386T>C (p.Asp1462=) c.3687T>C (p.Asp1229=) c.4434T>C (p.Asp1478=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.3736770A>T | CA394563944 | CREBBP | c.4440T>A (p.Asp1480Glu) c.4326T>A (p.Asp1442Glu) c.3075T>A (p.Asp1025Glu) n.230T>A n.261T>A n.3263T>A c.4395T>A (p.Asp1465Glu) c.4023T>A (p.Asp1341Glu) c.4179T>A (p.Asp1393Glu) c.4386T>A (p.Asp1462Glu) c.3687T>A (p.Asp1229Glu) c.4434T>A (p.Asp1478Glu) | dbSNP |
16 | g.3736771T>A | CA394563946 | CREBBP | c.4439A>T (p.Asp1480Val) c.4325A>T (p.Asp1442Val) c.3074A>T (p.Asp1025Val) n.229A>T n.260A>T n.3262A>T c.4394A>T (p.Asp1465Val) c.4022A>T (p.Asp1341Val) c.4178A>T (p.Asp1393Val) c.4385A>T (p.Asp1462Val) c.3686A>T (p.Asp1229Val) c.4433A>T (p.Asp1478Val) | |
16 | g.3736771T>C | CA10603272 | CREBBP | c.4439A>G (p.Asp1480Gly) c.4325A>G (p.Asp1442Gly) c.3074A>G (p.Asp1025Gly) n.229A>G n.260A>G n.3262A>G c.4394A>G (p.Asp1465Gly) c.4022A>G (p.Asp1341Gly) c.4178A>G (p.Asp1393Gly) c.4385A>G (p.Asp1462Gly) c.3686A>G (p.Asp1229Gly) c.4433A>G (p.Asp1478Gly) | ClinVar dbSNP |
16 | g.3736771T>G | CA394563949 | CREBBP | c.4439A>C (p.Asp1480Ala) c.4325A>C (p.Asp1442Ala) c.3074A>C (p.Asp1025Ala) n.229A>C n.260A>C n.3262A>C c.4394A>C (p.Asp1465Ala) c.4022A>C (p.Asp1341Ala) c.4178A>C (p.Asp1393Ala) c.4385A>C (p.Asp1462Ala) c.3686A>C (p.Asp1229Ala) c.4433A>C (p.Asp1478Ala) | |
16 | g.3736771T= | CA2202936701 | CREBBP | c.4439A= (p.Asp1480=) c.4325A= (p.Asp1442=) c.3074A= (p.Asp1025=) n.229A= n.260A= n.3262A= c.4394A= (p.Asp1465=) c.4022A= (p.Asp1341=) c.4178A= (p.Asp1393=) c.4385A= (p.Asp1462=) c.3686A= (p.Asp1229=) c.4433A= (p.Asp1478=) | |
16 | g.3736771_3736774delinsTCTC | CA2202936703 | CREBBP | c.4436_4439delinsGAGA (p.Gly1479=) c.4322_4325delinsGAGA (p.Gly1441=) c.3071_3074delinsGAGA (p.Gly1024=) n.226_229delinsGAGA n.257_260delinsGAGA n.3259_3262delinsGAGA c.4391_4394delinsGAGA (p.Gly1464=) c.4019_4022delinsGAGA (p.Gly1340=) c.4175_4178delinsGAGA (p.Gly1392=) c.4382_4385delinsGAGA (p.Gly1461=) c.3683_3686delinsGAGA (p.Gly1228=) c.4430_4433delinsGAGA (p.Gly1477=) | |
16 | g.3736772C>A | CA394563951 | CREBBP | c.4438G>T (p.Asp1480Tyr) c.4324G>T (p.Asp1442Tyr) c.3073G>T (p.Asp1025Tyr) n.228G>T n.259G>T n.3261G>T c.4393G>T (p.Asp1465Tyr) c.4021G>T (p.Asp1341Tyr) c.4177G>T (p.Asp1393Tyr) c.4384G>T (p.Asp1462Tyr) c.3685G>T (p.Asp1229Tyr) c.4432G>T (p.Asp1478Tyr) | dbSNP |
16 | g.3736772C>G | CA394563953 | CREBBP | c.4438G>C (p.Asp1480His) c.4324G>C (p.Asp1442His) c.3073G>C (p.Asp1025His) n.228G>C n.259G>C n.3261G>C c.4393G>C (p.Asp1465His) c.4021G>C (p.Asp1341His) c.4177G>C (p.Asp1393His) c.4384G>C (p.Asp1462His) c.3685G>C (p.Asp1229His) c.4432G>C (p.Asp1478His) | dbSNP |
16 | g.3736772C>T | CA394563955 | CREBBP | c.4438G>A (p.Asp1480Asn) c.4324G>A (p.Asp1442Asn) c.3073G>A (p.Asp1025Asn) n.228G>A n.259G>A n.3261G>A c.4393G>A (p.Asp1465Asn) c.4021G>A (p.Asp1341Asn) c.4177G>A (p.Asp1393Asn) c.4384G>A (p.Asp1462Asn) c.3685G>A (p.Asp1229Asn) c.4432G>A (p.Asp1478Asn) | dbSNP |
16 | g.3736774_3736776del | CA658823772 | CREBBP | c.4436_4438del (p.Gly1479del) c.4322_4324del (p.Gly1441del) c.3071_3073del (p.Gly1024del) n.226_228del n.257_259del n.3259_3261del c.4391_4393del (p.Gly1464del) c.4019_4021del (p.Gly1340del) c.4175_4177del (p.Gly1392del) c.4382_4384del (p.Gly1461del) c.3683_3685del (p.Gly1228del) c.4430_4432del (p.Gly1477del) | ClinVar dbSNP |
16 | g.3736773T>A | CA493279543 | CREBBP | c.4437A>T (p.Gly1479=) c.4323A>T (p.Gly1441=) c.3072A>T (p.Gly1024=) n.227A>T n.258A>T n.3260A>T c.4392A>T (p.Gly1464=) c.4020A>T (p.Gly1340=) c.4176A>T (p.Gly1392=) c.4383A>T (p.Gly1461=) c.3684A>T (p.Gly1228=) c.4431A>T (p.Gly1477=) | |
16 | g.3736773T>C | CA493279545 | CREBBP | c.4437A>G (p.Gly1479=) c.4323A>G (p.Gly1441=) c.3072A>G (p.Gly1024=) n.227A>G n.258A>G n.3260A>G c.4392A>G (p.Gly1464=) c.4020A>G (p.Gly1340=) c.4176A>G (p.Gly1392=) c.4383A>G (p.Gly1461=) c.3684A>G (p.Gly1228=) c.4431A>G (p.Gly1477=) | gnomAD v4 |
16 | g.3736773T>G | CA493279546 | CREBBP | c.4437A>C (p.Gly1479=) c.4323A>C (p.Gly1441=) c.3072A>C (p.Gly1024=) n.227A>C n.258A>C n.3260A>C c.4392A>C (p.Gly1464=) c.4020A>C (p.Gly1340=) c.4176A>C (p.Gly1392=) c.4383A>C (p.Gly1461=) c.3684A>C (p.Gly1228=) c.4431A>C (p.Gly1477=) | |
16 | g.3736774C>A | CA394563957 | CREBBP | c.4436G>T (p.Gly1479Val) c.4322G>T (p.Gly1441Val) c.3071G>T (p.Gly1024Val) n.226G>T n.257G>T n.3259G>T c.4391G>T (p.Gly1464Val) c.4019G>T (p.Gly1340Val) c.4175G>T (p.Gly1392Val) c.4382G>T (p.Gly1461Val) c.3683G>T (p.Gly1228Val) c.4430G>T (p.Gly1477Val) | dbSNP |
16 | g.3736774C>G | CA394563959 | CREBBP | c.4436G>C (p.Gly1479Ala) c.4322G>C (p.Gly1441Ala) c.3071G>C (p.Gly1024Ala) n.226G>C n.257G>C n.3259G>C c.4391G>C (p.Gly1464Ala) c.4019G>C (p.Gly1340Ala) c.4175G>C (p.Gly1392Ala) c.4382G>C (p.Gly1461Ala) c.3683G>C (p.Gly1228Ala) c.4430G>C (p.Gly1477Ala) | dbSNP |
16 | g.3736774C>T | CA394563961 | CREBBP | c.4436G>A (p.Gly1479Glu) c.4322G>A (p.Gly1441Glu) c.3071G>A (p.Gly1024Glu) n.226G>A n.257G>A n.3259G>A c.4391G>A (p.Gly1464Glu) c.4019G>A (p.Gly1340Glu) c.4175G>A (p.Gly1392Glu) c.4382G>A (p.Gly1461Glu) c.3683G>A (p.Gly1228Glu) c.4430G>A (p.Gly1477Glu) | dbSNP |
16 | g.3736775C>A | CA394563965 | CREBBP | c.4435G>T (p.Gly1479Ter) c.4321G>T (p.Gly1441Ter) c.3070G>T (p.Gly1024Ter) n.225G>T n.256G>T n.3258G>T c.4390G>T (p.Gly1464Ter) c.4018G>T (p.Gly1340Ter) c.4174G>T (p.Gly1392Ter) c.4381G>T (p.Gly1461Ter) c.3682G>T (p.Gly1228Ter) c.4429G>T (p.Gly1477Ter) | |
16 | g.3736775C>G | CA394563963 | CREBBP | c.4435G>C (p.Gly1479Arg) c.4321G>C (p.Gly1441Arg) c.3070G>C (p.Gly1024Arg) n.225G>C n.256G>C n.3258G>C c.4390G>C (p.Gly1464Arg) c.4018G>C (p.Gly1340Arg) c.4174G>C (p.Gly1392Arg) c.4381G>C (p.Gly1461Arg) c.3682G>C (p.Gly1228Arg) c.4429G>C (p.Gly1477Arg) | |
16 | g.3736775C>T | CA394563964 | CREBBP | c.4435G>A (p.Gly1479Arg) c.4321G>A (p.Gly1441Arg) c.3070G>A (p.Gly1024Arg) n.225G>A n.256G>A n.3258G>A c.4390G>A (p.Gly1464Arg) c.4018G>A (p.Gly1340Arg) c.4174G>A (p.Gly1392Arg) c.4381G>A (p.Gly1461Arg) c.3682G>A (p.Gly1228Arg) c.4429G>A (p.Gly1477Arg) | |
16 | g.3736776T>A | CA394563966 | CREBBP | c.4434A>T (p.Glu1478Asp) c.4320A>T (p.Glu1440Asp) c.3069A>T (p.Glu1023Asp) n.224A>T n.255A>T n.3257A>T c.4389A>T (p.Glu1463Asp) c.4017A>T (p.Glu1339Asp) c.4173A>T (p.Glu1391Asp) c.4380A>T (p.Glu1460Asp) c.3681A>T (p.Glu1227Asp) c.4428A>T (p.Glu1476Asp) | dbSNP |
16 | g.3736776T>C | CA493279557 | CREBBP | c.4434A>G (p.Glu1478=) c.4320A>G (p.Glu1440=) c.3069A>G (p.Glu1023=) n.224A>G n.255A>G n.3257A>G c.4389A>G (p.Glu1463=) c.4017A>G (p.Glu1339=) c.4173A>G (p.Glu1391=) c.4380A>G (p.Glu1460=) c.3681A>G (p.Glu1227=) c.4428A>G (p.Glu1476=) | dbSNP |
16 | g.3736776T>G | CA394563967 | CREBBP | c.4434A>C (p.Glu1478Asp) c.4320A>C (p.Glu1440Asp) c.3069A>C (p.Glu1023Asp) n.224A>C n.255A>C n.3257A>C c.4389A>C (p.Glu1463Asp) c.4017A>C (p.Glu1339Asp) c.4173A>C (p.Glu1391Asp) c.4380A>C (p.Glu1460Asp) c.3681A>C (p.Glu1227Asp) c.4428A>C (p.Glu1476Asp) | |
16 | g.3736777T>A | CA394563968 | CREBBP | c.4433A>T (p.Glu1478Val) c.4319A>T (p.Glu1440Val) c.3068A>T (p.Glu1023Val) n.223A>T n.254A>T n.3256A>T c.4388A>T (p.Glu1463Val) c.4016A>T (p.Glu1339Val) c.4172A>T (p.Glu1391Val) c.4379A>T (p.Glu1460Val) c.3680A>T (p.Glu1227Val) c.4427A>T (p.Glu1476Val) | dbSNP |
16 | g.3736777T>C | CA394563969 | CREBBP | c.4433A>G (p.Glu1478Gly) c.4319A>G (p.Glu1440Gly) c.3068A>G (p.Glu1023Gly) n.223A>G n.254A>G n.3256A>G c.4388A>G (p.Glu1463Gly) c.4016A>G (p.Glu1339Gly) c.4172A>G (p.Glu1391Gly) c.4379A>G (p.Glu1460Gly) c.3680A>G (p.Glu1227Gly) c.4427A>G (p.Glu1476Gly) | |
16 | g.3736777T>G | CA394563970 | CREBBP | c.4433A>C (p.Glu1478Ala) c.4319A>C (p.Glu1440Ala) c.3068A>C (p.Glu1023Ala) n.223A>C n.254A>C n.3256A>C c.4388A>C (p.Glu1463Ala) c.4016A>C (p.Glu1339Ala) c.4172A>C (p.Glu1391Ala) c.4379A>C (p.Glu1460Ala) c.3680A>C (p.Glu1227Ala) c.4427A>C (p.Glu1476Ala) | |
16 | g.3736778C>A | CA394563971 | CREBBP | c.4432G>T (p.Glu1478Ter) c.4318G>T (p.Glu1440Ter) c.3067G>T (p.Glu1023Ter) n.222G>T n.253G>T n.3255G>T c.4387G>T (p.Glu1463Ter) c.4015G>T (p.Glu1339Ter) c.4171G>T (p.Glu1391Ter) c.4378G>T (p.Glu1460Ter) c.3679G>T (p.Glu1227Ter) c.4426G>T (p.Glu1476Ter) | dbSNP |
16 | g.3736778C>G | CA394563972 | CREBBP | c.4432G>C (p.Glu1478Gln) c.4318G>C (p.Glu1440Gln) c.3067G>C (p.Glu1023Gln) n.222G>C n.253G>C n.3255G>C c.4387G>C (p.Glu1463Gln) c.4015G>C (p.Glu1339Gln) c.4171G>C (p.Glu1391Gln) c.4378G>C (p.Glu1460Gln) c.3679G>C (p.Glu1227Gln) c.4426G>C (p.Glu1476Gln) | dbSNP |
16 | g.3736778C>T | CA394563973 | CREBBP | c.4432G>A (p.Glu1478Lys) c.4318G>A (p.Glu1440Lys) c.3067G>A (p.Glu1023Lys) n.222G>A n.253G>A n.3255G>A c.4387G>A (p.Glu1463Lys) c.4015G>A (p.Glu1339Lys) c.4171G>A (p.Glu1391Lys) c.4378G>A (p.Glu1460Lys) c.3679G>A (p.Glu1227Lys) c.4426G>A (p.Glu1476Lys) | dbSNP COSMIC |
16 | g.3736779A>C | CA394563974 | CREBBP | c.4431T>G (p.Ser1477Arg) c.4317T>G (p.Ser1439Arg) c.3066T>G (p.Ser1022Arg) n.221T>G n.252T>G n.3254T>G c.4386T>G (p.Ser1462Arg) c.4014T>G (p.Ser1338Arg) c.4170T>G (p.Ser1390Arg) c.4377T>G (p.Ser1459Arg) c.3678T>G (p.Ser1226Arg) c.4425T>G (p.Ser1475Arg) | dbSNP |
16 | g.3736779A>G | CA493279570 | CREBBP | c.4431T>C (p.Ser1477=) c.4317T>C (p.Ser1439=) c.3066T>C (p.Ser1022=) n.221T>C n.252T>C n.3254T>C c.4386T>C (p.Ser1462=) c.4014T>C (p.Ser1338=) c.4170T>C (p.Ser1390=) c.4377T>C (p.Ser1459=) c.3678T>C (p.Ser1226=) c.4425T>C (p.Ser1475=) | |
16 | g.3736779A>T | CA394563975 | CREBBP | c.4431T>A (p.Ser1477Arg) c.4317T>A (p.Ser1439Arg) c.3066T>A (p.Ser1022Arg) n.221T>A n.252T>A n.3254T>A c.4386T>A (p.Ser1462Arg) c.4014T>A (p.Ser1338Arg) c.4170T>A (p.Ser1390Arg) c.4377T>A (p.Ser1459Arg) c.3678T>A (p.Ser1226Arg) c.4425T>A (p.Ser1475Arg) | dbSNP |
16 | g.3736780C>A | CA394563978 | CREBBP | c.4430G>T (p.Ser1477Ile) c.4316G>T (p.Ser1439Ile) c.3065G>T (p.Ser1022Ile) n.220G>T n.251G>T n.3253G>T c.4385G>T (p.Ser1462Ile) c.4013G>T (p.Ser1338Ile) c.4169G>T (p.Ser1390Ile) c.4376G>T (p.Ser1459Ile) c.3677G>T (p.Ser1226Ile) c.4424G>T (p.Ser1475Ile) | dbSNP |
16 | g.3736780C>G | CA394563977 | CREBBP | c.4430G>C (p.Ser1477Thr) c.4316G>C (p.Ser1439Thr) c.3065G>C (p.Ser1022Thr) n.220G>C n.251G>C n.3253G>C c.4385G>C (p.Ser1462Thr) c.4013G>C (p.Ser1338Thr) c.4169G>C (p.Ser1390Thr) c.4376G>C (p.Ser1459Thr) c.3677G>C (p.Ser1226Thr) c.4424G>C (p.Ser1475Thr) | dbSNP |
16 | g.3736780C>T | CA394563976 | CREBBP | c.4430G>A (p.Ser1477Asn) c.4316G>A (p.Ser1439Asn) c.3065G>A (p.Ser1022Asn) n.220G>A n.251G>A n.3253G>A c.4385G>A (p.Ser1462Asn) c.4013G>A (p.Ser1338Asn) c.4169G>A (p.Ser1390Asn) c.4376G>A (p.Ser1459Asn) c.3677G>A (p.Ser1226Asn) c.4424G>A (p.Ser1475Asn) | |
16 | g.3736781T>A | CA394563979 | CREBBP | c.4429A>T (p.Ser1477Cys) c.4315A>T (p.Ser1439Cys) c.3064A>T (p.Ser1022Cys) n.219A>T n.250A>T n.3252A>T c.4384A>T (p.Ser1462Cys) c.4012A>T (p.Ser1338Cys) c.4168A>T (p.Ser1390Cys) c.4375A>T (p.Ser1459Cys) c.3676A>T (p.Ser1226Cys) c.4423A>T (p.Ser1475Cys) | dbSNP |
16 | g.3736781T>C | CA394563980 | CREBBP | c.4429A>G (p.Ser1477Gly) c.4315A>G (p.Ser1439Gly) c.3064A>G (p.Ser1022Gly) n.219A>G n.250A>G n.3252A>G c.4384A>G (p.Ser1462Gly) c.4012A>G (p.Ser1338Gly) c.4168A>G (p.Ser1390Gly) c.4375A>G (p.Ser1459Gly) c.3676A>G (p.Ser1226Gly) c.4423A>G (p.Ser1475Gly) | dbSNP |
16 | g.3736781T>G | CA394563981 | CREBBP | c.4429A>C (p.Ser1477Arg) c.4315A>C (p.Ser1439Arg) c.3064A>C (p.Ser1022Arg) n.219A>C n.250A>C n.3252A>C c.4384A>C (p.Ser1462Arg) c.4012A>C (p.Ser1338Arg) c.4168A>C (p.Ser1390Arg) c.4375A>C (p.Ser1459Arg) c.3676A>C (p.Ser1226Arg) c.4423A>C (p.Ser1475Arg) | |
16 | g.3736782T>A | CA493279581 | CREBBP | c.4428A>T (p.Pro1476=) c.4314A>T (p.Pro1438=) c.3063A>T (p.Pro1021=) n.218A>T n.249A>T n.3251A>T c.4383A>T (p.Pro1461=) c.4011A>T (p.Pro1337=) c.4167A>T (p.Pro1389=) c.4374A>T (p.Pro1458=) c.3675A>T (p.Pro1225=) c.4422A>T (p.Pro1474=) | |
16 | g.3736782T>C | CA493279582 | CREBBP | c.4428A>G (p.Pro1476=) c.4314A>G (p.Pro1438=) c.3063A>G (p.Pro1021=) n.218A>G n.249A>G n.3251A>G c.4383A>G (p.Pro1461=) c.4011A>G (p.Pro1337=) c.4167A>G (p.Pro1389=) c.4374A>G (p.Pro1458=) c.3675A>G (p.Pro1225=) c.4422A>G (p.Pro1474=) | gnomAD v4 |
16 | g.3736782T>G | CA493279584 | CREBBP | c.4428A>C (p.Pro1476=) c.4314A>C (p.Pro1438=) c.3063A>C (p.Pro1021=) n.218A>C n.249A>C n.3251A>C c.4383A>C (p.Pro1461=) c.4011A>C (p.Pro1337=) c.4167A>C (p.Pro1389=) c.4374A>C (p.Pro1458=) c.3675A>C (p.Pro1225=) c.4422A>C (p.Pro1474=) | |
16 | g.3736782_3736783insA | CA2741462020 | CREBBP | c.4427_4428insT (p.Ser1477LysfsTer2) c.4313_4314insT (p.Ser1439LysfsTer2) c.3062_3063insT (p.Ser1022LysfsTer2) n.217_218insT n.248_249insT n.3250_3251insT c.4382_4383insT (p.Ser1462LysfsTer2) c.4010_4011insT (p.Ser1338LysfsTer2) c.4166_4167insT (p.Ser1390LysfsTer2) c.4373_4374insT (p.Ser1459LysfsTer2) c.3674_3675insT (p.Ser1226LysfsTer2) c.4421_4422insT (p.Ser1475LysfsTer2) | |
16 | g.3736783G>A | CA394563982 | CREBBP | c.4427C>T (p.Pro1476Leu) c.4313C>T (p.Pro1438Leu) c.3062C>T (p.Pro1021Leu) n.217C>T n.248C>T n.3250C>T c.4382C>T (p.Pro1461Leu) c.4010C>T (p.Pro1337Leu) c.4166C>T (p.Pro1389Leu) c.4373C>T (p.Pro1458Leu) c.3674C>T (p.Pro1225Leu) c.4421C>T (p.Pro1474Leu) | dbSNP COSMIC |
16 | g.3736783G>C | CA394563983 | CREBBP | c.4427C>G (p.Pro1476Arg) c.4313C>G (p.Pro1438Arg) c.3062C>G (p.Pro1021Arg) n.217C>G n.248C>G n.3250C>G c.4382C>G (p.Pro1461Arg) c.4010C>G (p.Pro1337Arg) c.4166C>G (p.Pro1389Arg) c.4373C>G (p.Pro1458Arg) c.3674C>G (p.Pro1225Arg) c.4421C>G (p.Pro1474Arg) | dbSNP COSMIC |
16 | g.3736783G>T | CA394563984 | CREBBP | c.4427C>A (p.Pro1476Gln) c.4313C>A (p.Pro1438Gln) c.3062C>A (p.Pro1021Gln) n.217C>A n.248C>A n.3250C>A c.4382C>A (p.Pro1461Gln) c.4010C>A (p.Pro1337Gln) c.4166C>A (p.Pro1389Gln) c.4373C>A (p.Pro1458Gln) c.3674C>A (p.Pro1225Gln) c.4421C>A (p.Pro1474Gln) | dbSNP |
16 | g.3736784G>A | CA394563985 | CREBBP | c.4426C>T (p.Pro1476Ser) c.4312C>T (p.Pro1438Ser) c.3061C>T (p.Pro1021Ser) n.216C>T n.247C>T n.3249C>T c.4381C>T (p.Pro1461Ser) c.4009C>T (p.Pro1337Ser) c.4165C>T (p.Pro1389Ser) c.4372C>T (p.Pro1458Ser) c.3673C>T (p.Pro1225Ser) c.4420C>T (p.Pro1474Ser) | dbSNP |
16 | g.3736784G>C | CA394563986 | CREBBP | c.4426C>G (p.Pro1476Ala) c.4312C>G (p.Pro1438Ala) c.3061C>G (p.Pro1021Ala) n.216C>G n.247C>G n.3249C>G c.4381C>G (p.Pro1461Ala) c.4009C>G (p.Pro1337Ala) c.4165C>G (p.Pro1389Ala) c.4372C>G (p.Pro1458Ala) c.3673C>G (p.Pro1225Ala) c.4420C>G (p.Pro1474Ala) | dbSNP |
16 | g.3736784G>T | CA394563987 | CREBBP | c.4426C>A (p.Pro1476Thr) c.4312C>A (p.Pro1438Thr) c.3061C>A (p.Pro1021Thr) n.216C>A n.247C>A n.3249C>A c.4381C>A (p.Pro1461Thr) c.4009C>A (p.Pro1337Thr) c.4165C>A (p.Pro1389Thr) c.4372C>A (p.Pro1458Thr) c.3673C>A (p.Pro1225Thr) c.4420C>A (p.Pro1474Thr) | |
16 | g.3736785_3736786del | CA2695222631 | CREBBP | c.4425_4426del (p.Pro1476LysfsTer2) c.4311_4312del (p.Pro1438LysfsTer2) c.3060_3061del (p.Pro1021LysfsTer2) n.215_216del n.246_247del n.3248_3249del c.4380_4381del (p.Pro1461LysfsTer2) c.4008_4009del (p.Pro1337LysfsTer2) c.4164_4165del (p.Pro1389LysfsTer2) c.4371_4372del (p.Pro1458LysfsTer2) c.3672_3673del (p.Pro1225LysfsTer2) c.4419_4420del (p.Pro1474LysfsTer2) | |
16 | g.3736785A= | CA2202936707 | CREBBP | c.4425T= (p.Pro1475=) c.4311T= (p.Pro1437=) c.3060T= (p.Pro1020=) n.215T= n.246T= n.3248T= c.4380T= (p.Pro1460=) c.4008T= (p.Pro1336=) c.4164T= (p.Pro1388=) c.4371T= (p.Pro1457=) c.3672T= (p.Pro1224=) c.4419T= (p.Pro1473=) | |
16 | g.3736785A>C | CA493279591 | CREBBP | c.4425T>G (p.Pro1475=) c.4311T>G (p.Pro1437=) c.3060T>G (p.Pro1020=) n.215T>G n.246T>G n.3248T>G c.4380T>G (p.Pro1460=) c.4008T>G (p.Pro1336=) c.4164T>G (p.Pro1388=) c.4371T>G (p.Pro1457=) c.3672T>G (p.Pro1224=) c.4419T>G (p.Pro1473=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3736785A>G | CA493279593 | CREBBP | c.4425T>C (p.Pro1475=) c.4311T>C (p.Pro1437=) c.3060T>C (p.Pro1020=) n.215T>C n.246T>C n.3248T>C c.4380T>C (p.Pro1460=) c.4008T>C (p.Pro1336=) c.4164T>C (p.Pro1388=) c.4371T>C (p.Pro1457=) c.3672T>C (p.Pro1224=) c.4419T>C (p.Pro1473=) | dbSNP gnomAD v4 |
16 | g.3736785A>T | CA493279595 | CREBBP | c.4425T>A (p.Pro1475=) c.4311T>A (p.Pro1437=) c.3060T>A (p.Pro1020=) n.215T>A n.246T>A n.3248T>A c.4380T>A (p.Pro1460=) c.4008T>A (p.Pro1336=) c.4164T>A (p.Pro1388=) c.4371T>A (p.Pro1457=) c.3672T>A (p.Pro1224=) c.4419T>A (p.Pro1473=) | dbSNP |
16 | g.3736786G>A | CA394563988 | CREBBP | c.4424C>T (p.Pro1475Leu) c.4310C>T (p.Pro1437Leu) c.3059C>T (p.Pro1020Leu) n.214C>T n.245C>T n.3247C>T c.4379C>T (p.Pro1460Leu) c.4007C>T (p.Pro1336Leu) c.4163C>T (p.Pro1388Leu) c.4370C>T (p.Pro1457Leu) c.3671C>T (p.Pro1224Leu) c.4418C>T (p.Pro1473Leu) | dbSNP COSMIC |
16 | g.3736786G>C | CA394563989 | CREBBP | c.4424C>G (p.Pro1475Arg) c.4310C>G (p.Pro1437Arg) c.3059C>G (p.Pro1020Arg) n.214C>G n.245C>G n.3247C>G c.4379C>G (p.Pro1460Arg) c.4007C>G (p.Pro1336Arg) c.4163C>G (p.Pro1388Arg) c.4370C>G (p.Pro1457Arg) c.3671C>G (p.Pro1224Arg) c.4418C>G (p.Pro1473Arg) | COSMIC |
16 | g.3736786G>T | CA394563990 | CREBBP | c.4424C>A (p.Pro1475His) c.4310C>A (p.Pro1437His) c.3059C>A (p.Pro1020His) n.214C>A n.245C>A n.3247C>A c.4379C>A (p.Pro1460His) c.4007C>A (p.Pro1336His) c.4163C>A (p.Pro1388His) c.4370C>A (p.Pro1457His) c.3671C>A (p.Pro1224His) c.4418C>A (p.Pro1473His) | |
16 | g.3736787G>A | CA394563993 | CREBBP | c.4423C>T (p.Pro1475Ser) c.4309C>T (p.Pro1437Ser) c.3058C>T (p.Pro1020Ser) n.213C>T n.244C>T n.3246C>T c.4378C>T (p.Pro1460Ser) c.4006C>T (p.Pro1336Ser) c.4162C>T (p.Pro1388Ser) c.4369C>T (p.Pro1457Ser) c.3670C>T (p.Pro1224Ser) c.4417C>T (p.Pro1473Ser) | ClinVar dbSNP |
16 | g.3736787G>C | CA394563992 | CREBBP | c.4423C>G (p.Pro1475Ala) c.4309C>G (p.Pro1437Ala) c.3058C>G (p.Pro1020Ala) n.213C>G n.244C>G n.3246C>G c.4378C>G (p.Pro1460Ala) c.4006C>G (p.Pro1336Ala) c.4162C>G (p.Pro1388Ala) c.4369C>G (p.Pro1457Ala) c.3670C>G (p.Pro1224Ala) c.4417C>G (p.Pro1473Ala) | dbSNP |
16 | g.3736787G>T | CA394563991 | CREBBP | c.4423C>A (p.Pro1475Thr) c.4309C>A (p.Pro1437Thr) c.3058C>A (p.Pro1020Thr) n.213C>A n.244C>A n.3246C>A c.4378C>A (p.Pro1460Thr) c.4006C>A (p.Pro1336Thr) c.4162C>A (p.Pro1388Thr) c.4369C>A (p.Pro1457Thr) c.3670C>A (p.Pro1224Thr) c.4417C>A (p.Pro1473Thr) | |
16 | g.3736788A= | CA2202936711 | CREBBP | c.4422T= (p.Cys1474=) c.4308T= (p.Cys1436=) c.3057T= (p.Cys1019=) n.212T= n.243T= n.3245T= c.4377T= (p.Cys1459=) c.4005T= (p.Cys1335=) c.4161T= (p.Cys1387=) c.4368T= (p.Cys1456=) c.3669T= (p.Cys1223=) c.4416T= (p.Cys1472=) | |
16 | g.3736788A>C | CA394563994 | CREBBP | c.4422T>G (p.Cys1474Trp) c.4308T>G (p.Cys1436Trp) c.3057T>G (p.Cys1019Trp) n.212T>G n.243T>G n.3245T>G c.4377T>G (p.Cys1459Trp) c.4005T>G (p.Cys1335Trp) c.4161T>G (p.Cys1387Trp) c.4368T>G (p.Cys1456Trp) c.3669T>G (p.Cys1223Trp) c.4416T>G (p.Cys1472Trp) | |
16 | g.3736788A>G | CA493279606 | CREBBP | c.4422T>C (p.Cys1474=) c.4308T>C (p.Cys1436=) c.3057T>C (p.Cys1019=) n.212T>C n.243T>C n.3245T>C c.4377T>C (p.Cys1459=) c.4005T>C (p.Cys1335=) c.4161T>C (p.Cys1387=) c.4368T>C (p.Cys1456=) c.3669T>C (p.Cys1223=) c.4416T>C (p.Cys1472=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3736788A>T | CA394563995 | CREBBP | c.4422T>A (p.Cys1474Ter) c.4308T>A (p.Cys1436Ter) c.3057T>A (p.Cys1019Ter) n.212T>A n.243T>A n.3245T>A c.4377T>A (p.Cys1459Ter) c.4005T>A (p.Cys1335Ter) c.4161T>A (p.Cys1387Ter) c.4368T>A (p.Cys1456Ter) c.3669T>A (p.Cys1223Ter) c.4416T>A (p.Cys1472Ter) | |
16 | g.3736788_3736789delinsAC | CA2202936710 | CREBBP | c.4421_4422delinsGT (p.Cys1474=) c.4307_4308delinsGT (p.Cys1436=) c.3056_3057delinsGT (p.Cys1019=) n.211_212delinsGT n.242_243delinsGT n.3244_3245delinsGT c.4376_4377delinsGT (p.Cys1459=) c.4004_4005delinsGT (p.Cys1335=) c.4160_4161delinsGT (p.Cys1387=) c.4367_4368delinsGT (p.Cys1456=) c.3668_3669delinsGT (p.Cys1223=) c.4415_4416delinsGT (p.Cys1472=) | |
16 | g.3736788_3736789delinsGA | CA658798528 | CREBBP | c.4421_4422delinsTC (p.Cys1474Phe) c.4307_4308delinsTC (p.Cys1436Phe) c.3056_3057delinsTC (p.Cys1019Phe) n.211_212delinsTC n.242_243delinsTC n.3244_3245delinsTC c.4376_4377delinsTC (p.Cys1459Phe) c.4004_4005delinsTC (p.Cys1335Phe) c.4160_4161delinsTC (p.Cys1387Phe) c.4367_4368delinsTC (p.Cys1456Phe) c.3668_3669delinsTC (p.Cys1223Phe) c.4415_4416delinsTC (p.Cys1472Phe) | ClinVar dbSNP |
16 | g.3736789C>A | CA394563996 | CREBBP | c.4421G>T (p.Cys1474Phe) c.4307G>T (p.Cys1436Phe) c.3056G>T (p.Cys1019Phe) n.211G>T n.242G>T n.3244G>T c.4376G>T (p.Cys1459Phe) c.4004G>T (p.Cys1335Phe) c.4160G>T (p.Cys1387Phe) c.4367G>T (p.Cys1456Phe) c.3668G>T (p.Cys1223Phe) c.4415G>T (p.Cys1472Phe) | dbSNP |
16 | g.3736789C= | CA2202936715 | CREBBP | c.4421G= (p.Cys1474=) c.4307G= (p.Cys1436=) c.3056G= (p.Cys1019=) n.211G= n.242G= n.3244G= c.4376G= (p.Cys1459=) c.4004G= (p.Cys1335=) c.4160G= (p.Cys1387=) c.4367G= (p.Cys1456=) c.3668G= (p.Cys1223=) c.4415G= (p.Cys1472=) | |
16 | g.3736789C>G | CA394563997 | CREBBP | c.4421G>C (p.Cys1474Ser) c.4307G>C (p.Cys1436Ser) c.3056G>C (p.Cys1019Ser) n.211G>C n.242G>C n.3244G>C c.4376G>C (p.Cys1459Ser) c.4004G>C (p.Cys1335Ser) c.4160G>C (p.Cys1387Ser) c.4367G>C (p.Cys1456Ser) c.3668G>C (p.Cys1223Ser) c.4415G>C (p.Cys1472Ser) | dbSNP |
16 | g.3736789C>T | CA10603990 | CREBBP | c.4421G>A (p.Cys1474Tyr) c.4307G>A (p.Cys1436Tyr) c.3056G>A (p.Cys1019Tyr) n.211G>A n.242G>A n.3244G>A c.4376G>A (p.Cys1459Tyr) c.4004G>A (p.Cys1335Tyr) c.4160G>A (p.Cys1387Tyr) c.4367G>A (p.Cys1456Tyr) c.3668G>A (p.Cys1223Tyr) c.4415G>A (p.Cys1472Tyr) | ClinVar dbSNP |
16 | g.3736790A>C | CA394563998 | CREBBP | c.4420T>G (p.Cys1474Gly) c.4306T>G (p.Cys1436Gly) c.3055T>G (p.Cys1019Gly) n.210T>G n.241T>G n.3243T>G c.4375T>G (p.Cys1459Gly) c.4003T>G (p.Cys1335Gly) c.4159T>G (p.Cys1387Gly) c.4366T>G (p.Cys1456Gly) c.3667T>G (p.Cys1223Gly) c.4414T>G (p.Cys1472Gly) | |
16 | g.3736790A>G | CA394563999 | CREBBP | c.4420T>C (p.Cys1474Arg) c.4306T>C (p.Cys1436Arg) c.3055T>C (p.Cys1019Arg) n.210T>C n.241T>C n.3243T>C c.4375T>C (p.Cys1459Arg) c.4003T>C (p.Cys1335Arg) c.4159T>C (p.Cys1387Arg) c.4366T>C (p.Cys1456Arg) c.3667T>C (p.Cys1223Arg) c.4414T>C (p.Cys1472Arg) | dbSNP |
16 | g.3736790A>T | CA394564000 | CREBBP | c.4420T>A (p.Cys1474Ser) c.4306T>A (p.Cys1436Ser) c.3055T>A (p.Cys1019Ser) n.210T>A n.241T>A n.3243T>A c.4375T>A (p.Cys1459Ser) c.4003T>A (p.Cys1335Ser) c.4159T>A (p.Cys1387Ser) c.4366T>A (p.Cys1456Ser) c.3667T>A (p.Cys1223Ser) c.4414T>A (p.Cys1472Ser) | |
16 | g.3736791G>A | CA7869519 | CREBBP | c.4419C>T (p.Ala1473=) c.4305C>T (p.Ala1435=) c.3054C>T (p.Ala1018=) n.209C>T n.240C>T n.3242C>T c.4374C>T (p.Ala1458=) c.4002C>T (p.Ala1334=) c.4158C>T (p.Ala1386=) c.4365C>T (p.Ala1455=) c.3666C>T (p.Ala1222=) c.4413C>T (p.Ala1471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3736791G>C | CA493279620 | CREBBP | c.4419C>G (p.Ala1473=) c.4305C>G (p.Ala1435=) c.3054C>G (p.Ala1018=) n.209C>G n.240C>G n.3242C>G c.4374C>G (p.Ala1458=) c.4002C>G (p.Ala1334=) c.4158C>G (p.Ala1386=) c.4365C>G (p.Ala1455=) c.3666C>G (p.Ala1222=) c.4413C>G (p.Ala1471=) | dbSNP |
16 | g.3736791G= | CA2202936717 | CREBBP | c.4419C= (p.Ala1473=) c.4305C= (p.Ala1435=) c.3054C= (p.Ala1018=) n.209C= n.240C= n.3242C= c.4374C= (p.Ala1458=) c.4002C= (p.Ala1334=) c.4158C= (p.Ala1386=) c.4365C= (p.Ala1455=) c.3666C= (p.Ala1222=) c.4413C= (p.Ala1471=) | |
16 | g.3736791G>T | CA493279622 | CREBBP | c.4419C>A (p.Ala1473=) c.4305C>A (p.Ala1435=) c.3054C>A (p.Ala1018=) n.209C>A n.240C>A n.3242C>A c.4374C>A (p.Ala1458=) c.4002C>A (p.Ala1334=) c.4158C>A (p.Ala1386=) c.4365C>A (p.Ala1455=) c.3666C>A (p.Ala1222=) c.4413C>A (p.Ala1471=) | dbSNP |
16 | g.3736792del | CA493279624 | CREBBP | c.4419del (p.Cys1474ValfsTer?) c.4305del (p.Cys1436ValfsTer?) c.3054del (p.Cys1019ValfsTer?) n.209del n.240del n.3242del c.4374del (p.Cys1459ValfsTer?) c.4002del (p.Cys1335ValfsTer?) c.4158del (p.Cys1387ValfsTer?) c.4365del (p.Cys1456ValfsTer?) c.3666del (p.Cys1223ValfsTer?) c.4413del (p.Cys1472ValfsTer?) | COSMIC |
16 | g.3736792G>A | CA394564001 | CREBBP | c.4418C>T (p.Ala1473Val) c.4304C>T (p.Ala1435Val) c.3053C>T (p.Ala1018Val) n.208C>T n.239C>T n.3241C>T c.4373C>T (p.Ala1458Val) c.4001C>T (p.Ala1334Val) c.4157C>T (p.Ala1386Val) c.4364C>T (p.Ala1455Val) c.3665C>T (p.Ala1222Val) c.4412C>T (p.Ala1471Val) | gnomAD v4 |
16 | g.3736792G>C | CA394564002 | CREBBP | c.4418C>G (p.Ala1473Gly) c.4304C>G (p.Ala1435Gly) c.3053C>G (p.Ala1018Gly) n.208C>G n.239C>G n.3241C>G c.4373C>G (p.Ala1458Gly) c.4001C>G (p.Ala1334Gly) c.4157C>G (p.Ala1386Gly) c.4364C>G (p.Ala1455Gly) c.3665C>G (p.Ala1222Gly) c.4412C>G (p.Ala1471Gly) | |
16 | g.3736792G>T | CA394564003 | CREBBP | c.4418C>A (p.Ala1473Asp) c.4304C>A (p.Ala1435Asp) c.3053C>A (p.Ala1018Asp) n.208C>A n.239C>A n.3241C>A c.4373C>A (p.Ala1458Asp) c.4001C>A (p.Ala1334Asp) c.4157C>A (p.Ala1386Asp) c.4364C>A (p.Ala1455Asp) c.3665C>A (p.Ala1222Asp) c.4412C>A (p.Ala1471Asp) | |
16 | g.3736792_3736793insGCACATCTGGGCCTGTCCT | CA2838336079 | CREBBP | c.4417_4418insAGGACAGGCCCAGATGTGC (p.Ala1473GlufsTer12) c.4303_4304insAGGACAGGCCCAGATGTGC (p.Ala1435GlufsTer12) c.3052_3053insAGGACAGGCCCAGATGTGC (p.Ala1018GlufsTer12) n.207_208insAGGACAGGCCCAGATGTGC n.238_239insAGGACAGGCCCAGATGTGC n.3240_3241insAGGACAGGCCCAGATGTGC c.4372_4373insAGGACAGGCCCAGATGTGC (p.Ala1458GlufsTer12) c.4000_4001insAGGACAGGCCCAGATGTGC (p.Ala1334GlufsTer12) c.4156_4157insAGGACAGGCCCAGATGTGC (p.Ala1386GlufsTer12) c.4363_4364insAGGACAGGCCCAGATGTGC (p.Ala1455GlufsTer12) c.3664_3665insAGGACAGGCCCAGATGTGC (p.Ala1222GlufsTer12) c.4411_4412insAGGACAGGCCCAGATGTGC (p.Ala1471GlufsTer12) | |
16 | g.3736793C>A | CA394564006 | CREBBP | c.4417G>T (p.Ala1473Ser) c.4303G>T (p.Ala1435Ser) c.3052G>T (p.Ala1018Ser) n.207G>T n.238G>T n.3240G>T c.4372G>T (p.Ala1458Ser) c.4000G>T (p.Ala1334Ser) c.4156G>T (p.Ala1386Ser) c.4363G>T (p.Ala1455Ser) c.3664G>T (p.Ala1222Ser) c.4411G>T (p.Ala1471Ser) | dbSNP |
16 | g.3736793C= | CA2202936719 | CREBBP | c.4417G= (p.Ala1473=) c.4303G= (p.Ala1435=) c.3052G= (p.Ala1018=) n.207G= n.238G= n.3240G= c.4372G= (p.Ala1458=) c.4000G= (p.Ala1334=) c.4156G= (p.Ala1386=) c.4363G= (p.Ala1455=) c.3664G= (p.Ala1222=) c.4411G= (p.Ala1471=) | |
16 | g.3736793C>G | CA394564005 | CREBBP | c.4417G>C (p.Ala1473Pro) c.4303G>C (p.Ala1435Pro) c.3052G>C (p.Ala1018Pro) n.207G>C n.238G>C n.3240G>C c.4372G>C (p.Ala1458Pro) c.4000G>C (p.Ala1334Pro) c.4156G>C (p.Ala1386Pro) c.4363G>C (p.Ala1455Pro) c.3664G>C (p.Ala1222Pro) c.4411G>C (p.Ala1471Pro) | dbSNP |
16 | g.3736793C>T | CA394564004 | CREBBP | c.4417G>A (p.Ala1473Thr) c.4303G>A (p.Ala1435Thr) c.3052G>A (p.Ala1018Thr) n.207G>A n.238G>A n.3240G>A c.4372G>A (p.Ala1458Thr) c.4000G>A (p.Ala1334Thr) c.4156G>A (p.Ala1386Thr) c.4363G>A (p.Ala1455Thr) c.3664G>A (p.Ala1222Thr) c.4411G>A (p.Ala1471Thr) | ClinVar dbSNP |
16 | g.3736794C>A | CA394564007 | CREBBP | c.4416G>T (p.Trp1472Cys) c.4302G>T (p.Trp1434Cys) c.3051G>T (p.Trp1017Cys) n.206G>T n.237G>T n.3239G>T c.4371G>T (p.Trp1457Cys) c.3999G>T (p.Trp1333Cys) c.4155G>T (p.Trp1385Cys) c.4362G>T (p.Trp1454Cys) c.3663G>T (p.Trp1221Cys) c.4410G>T (p.Trp1470Cys) | dbSNP COSMIC |
16 | g.3736794C>G | CA394564009 | CREBBP | c.4416G>C (p.Trp1472Cys) c.4302G>C (p.Trp1434Cys) c.3051G>C (p.Trp1017Cys) n.206G>C n.237G>C n.3239G>C c.4371G>C (p.Trp1457Cys) c.3999G>C (p.Trp1333Cys) c.4155G>C (p.Trp1385Cys) c.4362G>C (p.Trp1454Cys) c.3663G>C (p.Trp1221Cys) c.4410G>C (p.Trp1470Cys) | dbSNP |
16 | g.3736794C>T | CA394564008 | CREBBP | c.4416G>A (p.Trp1472Ter) c.4302G>A (p.Trp1434Ter) c.3051G>A (p.Trp1017Ter) n.206G>A n.237G>A n.3239G>A c.4371G>A (p.Trp1457Ter) c.3999G>A (p.Trp1333Ter) c.4155G>A (p.Trp1385Ter) c.4362G>A (p.Trp1454Ter) c.3663G>A (p.Trp1221Ter) c.4410G>A (p.Trp1470Ter) | dbSNP |
16 | g.3736795C>A | CA394564010 | CREBBP | c.4415G>T (p.Trp1472Leu) c.4301G>T (p.Trp1434Leu) c.3050G>T (p.Trp1017Leu) n.205G>T n.236G>T n.3238G>T c.4370G>T (p.Trp1457Leu) c.3998G>T (p.Trp1333Leu) c.4154G>T (p.Trp1385Leu) c.4361G>T (p.Trp1454Leu) c.3662G>T (p.Trp1221Leu) c.4409G>T (p.Trp1470Leu) | |
16 | g.3736795C>G | CA394564011 | CREBBP | c.4415G>C (p.Trp1472Ser) c.4301G>C (p.Trp1434Ser) c.3050G>C (p.Trp1017Ser) n.205G>C n.236G>C n.3238G>C c.4370G>C (p.Trp1457Ser) c.3998G>C (p.Trp1333Ser) c.4154G>C (p.Trp1385Ser) c.4361G>C (p.Trp1454Ser) c.3662G>C (p.Trp1221Ser) c.4409G>C (p.Trp1470Ser) | dbSNP COSMIC |
16 | g.3736795C>T | CA394564012 | CREBBP | c.4415G>A (p.Trp1472Ter) c.4301G>A (p.Trp1434Ter) c.3050G>A (p.Trp1017Ter) n.205G>A n.236G>A n.3238G>A c.4370G>A (p.Trp1457Ter) c.3998G>A (p.Trp1333Ter) c.4154G>A (p.Trp1385Ter) c.4361G>A (p.Trp1454Ter) c.3662G>A (p.Trp1221Ter) c.4409G>A (p.Trp1470Ter) | dbSNP |
16 | g.3736796A>C | CA394564013 | CREBBP | c.4414T>G (p.Trp1472Gly) c.4300T>G (p.Trp1434Gly) c.3049T>G (p.Trp1017Gly) n.204T>G n.235T>G n.3237T>G c.4369T>G (p.Trp1457Gly) c.3997T>G (p.Trp1333Gly) c.4153T>G (p.Trp1385Gly) c.4360T>G (p.Trp1454Gly) c.3661T>G (p.Trp1221Gly) c.4408T>G (p.Trp1470Gly) | COSMIC |
16 | g.3736796A>G | CA394564014 | CREBBP | c.4414T>C (p.Trp1472Arg) c.4300T>C (p.Trp1434Arg) c.3049T>C (p.Trp1017Arg) n.204T>C n.235T>C n.3237T>C c.4369T>C (p.Trp1457Arg) c.3997T>C (p.Trp1333Arg) c.4153T>C (p.Trp1385Arg) c.4360T>C (p.Trp1454Arg) c.3661T>C (p.Trp1221Arg) c.4408T>C (p.Trp1470Arg) | dbSNP |
16 | g.3736796A>T | CA394564015 | CREBBP | c.4414T>A (p.Trp1472Arg) c.4300T>A (p.Trp1434Arg) c.3049T>A (p.Trp1017Arg) n.204T>A n.235T>A n.3237T>A c.4369T>A (p.Trp1457Arg) c.3997T>A (p.Trp1333Arg) c.4153T>A (p.Trp1385Arg) c.4360T>A (p.Trp1454Arg) c.3661T>A (p.Trp1221Arg) c.4408T>A (p.Trp1470Arg) | dbSNP COSMIC |
16 | g.3736797G>A | CA493279645 | CREBBP | c.4413C>T (p.Ile1471=) c.4299C>T (p.Ile1433=) c.3048C>T (p.Ile1016=) n.203C>T n.234C>T n.3236C>T c.4368C>T (p.Ile1456=) c.3996C>T (p.Ile1332=) c.4152C>T (p.Ile1384=) c.4359C>T (p.Ile1453=) c.3660C>T (p.Ile1220=) c.4407C>T (p.Ile1469=) | dbSNP |
16 | g.3736797G>C | CA394564016 | CREBBP | c.4413C>G (p.Ile1471Met) c.4299C>G (p.Ile1433Met) c.3048C>G (p.Ile1016Met) n.203C>G n.234C>G n.3236C>G c.4368C>G (p.Ile1456Met) c.3996C>G (p.Ile1332Met) c.4152C>G (p.Ile1384Met) c.4359C>G (p.Ile1453Met) c.3660C>G (p.Ile1220Met) c.4407C>G (p.Ile1469Met) | dbSNP COSMIC |
16 | g.3736797G>T | CA493279642 | CREBBP | c.4413C>A (p.Ile1471=) c.4299C>A (p.Ile1433=) c.3048C>A (p.Ile1016=) n.203C>A n.234C>A n.3236C>A c.4368C>A (p.Ile1456=) c.3996C>A (p.Ile1332=) c.4152C>A (p.Ile1384=) c.4359C>A (p.Ile1453=) c.3660C>A (p.Ile1220=) c.4407C>A (p.Ile1469=) | dbSNP |
16 | g.3736798A>C | CA394564017 | CREBBP | c.4412T>G (p.Ile1471Ser) c.4298T>G (p.Ile1433Ser) c.3047T>G (p.Ile1016Ser) n.202T>G n.233T>G n.3235T>G c.4367T>G (p.Ile1456Ser) c.3995T>G (p.Ile1332Ser) c.4151T>G (p.Ile1384Ser) c.4358T>G (p.Ile1453Ser) c.3659T>G (p.Ile1220Ser) c.4406T>G (p.Ile1469Ser) | dbSNP |
16 | g.3736798A>G | CA394564018 | CREBBP | c.4412T>C (p.Ile1471Thr) c.4298T>C (p.Ile1433Thr) c.3047T>C (p.Ile1016Thr) n.202T>C n.233T>C n.3235T>C c.4367T>C (p.Ile1456Thr) c.3995T>C (p.Ile1332Thr) c.4151T>C (p.Ile1384Thr) c.4358T>C (p.Ile1453Thr) c.3659T>C (p.Ile1220Thr) c.4406T>C (p.Ile1469Thr) | |
16 | g.3736798A>T | CA394564019 | CREBBP | c.4412T>A (p.Ile1471Asn) c.4298T>A (p.Ile1433Asn) c.3047T>A (p.Ile1016Asn) n.202T>A n.233T>A n.3235T>A c.4367T>A (p.Ile1456Asn) c.3995T>A (p.Ile1332Asn) c.4151T>A (p.Ile1384Asn) c.4358T>A (p.Ile1453Asn) c.3659T>A (p.Ile1220Asn) c.4406T>A (p.Ile1469Asn) | COSMIC |
16 | g.3736799T>A | CA394564022 | CREBBP | c.4411A>T (p.Ile1471Phe) c.4297A>T (p.Ile1433Phe) c.3046A>T (p.Ile1016Phe) n.201A>T n.232A>T n.3234A>T c.4366A>T (p.Ile1456Phe) c.3994A>T (p.Ile1332Phe) c.4150A>T (p.Ile1384Phe) c.4357A>T (p.Ile1453Phe) c.3658A>T (p.Ile1220Phe) c.4405A>T (p.Ile1469Phe) | dbSNP |
16 | g.3736799T>C | CA394564021 | CREBBP | c.4411A>G (p.Ile1471Val) c.4297A>G (p.Ile1433Val) c.3046A>G (p.Ile1016Val) n.201A>G n.232A>G n.3234A>G c.4366A>G (p.Ile1456Val) c.3994A>G (p.Ile1332Val) c.4150A>G (p.Ile1384Val) c.4357A>G (p.Ile1453Val) c.3658A>G (p.Ile1220Val) c.4405A>G (p.Ile1469Val) | |
16 | g.3736799T>G | CA394564020 | CREBBP | c.4411A>C (p.Ile1471Leu) c.4297A>C (p.Ile1433Leu) c.3046A>C (p.Ile1016Leu) n.201A>C n.232A>C n.3234A>C c.4366A>C (p.Ile1456Leu) c.3994A>C (p.Ile1332Leu) c.4150A>C (p.Ile1384Leu) c.4357A>C (p.Ile1453Leu) c.3658A>C (p.Ile1220Leu) c.4405A>C (p.Ile1469Leu) | |
16 | g.3736800G>A | CA493279652 | CREBBP | c.4410C>T (p.His1470=) c.4296C>T (p.His1432=) c.3045C>T (p.His1015=) n.200C>T n.231C>T n.3233C>T c.4365C>T (p.His1455=) c.3993C>T (p.His1331=) c.4149C>T (p.His1383=) c.4356C>T (p.His1452=) c.3657C>T (p.His1219=) c.4404C>T (p.His1468=) | dbSNP gnomAD v4 |
16 | g.3736800G>C | CA394564023 | CREBBP | c.4410C>G (p.His1470Gln) c.4296C>G (p.His1432Gln) c.3045C>G (p.His1015Gln) n.200C>G n.231C>G n.3233C>G c.4365C>G (p.His1455Gln) c.3993C>G (p.His1331Gln) c.4149C>G (p.His1383Gln) c.4356C>G (p.His1452Gln) c.3657C>G (p.His1219Gln) c.4404C>G (p.His1468Gln) | dbSNP |
16 | g.3736800G>T | CA394564024 | CREBBP | c.4410C>A (p.His1470Gln) c.4296C>A (p.His1432Gln) c.3045C>A (p.His1015Gln) n.200C>A n.231C>A n.3233C>A c.4365C>A (p.His1455Gln) c.3993C>A (p.His1331Gln) c.4149C>A (p.His1383Gln) c.4356C>A (p.His1452Gln) c.3657C>A (p.His1219Gln) c.4404C>A (p.His1468Gln) | |
16 | g.3736801T>A | CA394564025 | CREBBP | c.4409A>T (p.His1470Leu) c.4295A>T (p.His1432Leu) c.3044A>T (p.His1015Leu) n.199A>T n.230A>T n.3232A>T c.4364A>T (p.His1455Leu) c.3992A>T (p.His1331Leu) c.4148A>T (p.His1383Leu) c.4355A>T (p.His1452Leu) c.3656A>T (p.His1219Leu) c.4403A>T (p.His1468Leu) | dbSNP |
16 | g.3736801T>C | CA204617 | CREBBP | c.4409A>G (p.His1470Arg) c.4295A>G (p.His1432Arg) c.3044A>G (p.His1015Arg) n.199A>G n.230A>G n.3232A>G c.4364A>G (p.His1455Arg) c.3992A>G (p.His1331Arg) c.4148A>G (p.His1383Arg) c.4355A>G (p.His1452Arg) c.3656A>G (p.His1219Arg) c.4403A>G (p.His1468Arg) | ClinVar dbSNP |
16 | g.3736801T>G | CA394564026 | CREBBP | c.4409A>C (p.His1470Pro) c.4295A>C (p.His1432Pro) c.3044A>C (p.His1015Pro) n.199A>C n.230A>C n.3232A>C c.4364A>C (p.His1455Pro) c.3992A>C (p.His1331Pro) c.4148A>C (p.His1383Pro) c.4355A>C (p.His1452Pro) c.3656A>C (p.His1219Pro) c.4403A>C (p.His1468Pro) | ClinVar dbSNP |
16 | g.3736801T= | CA2202936721 | CREBBP | c.4409A= (p.His1470=) c.4295A= (p.His1432=) c.3044A= (p.His1015=) n.199A= n.230A= n.3232A= c.4364A= (p.His1455=) c.3992A= (p.His1331=) c.4148A= (p.His1383=) c.4355A= (p.His1452=) c.3656A= (p.His1219=) c.4403A= (p.His1468=) | |
16 | g.3736802G>A | CA394564027 | CREBBP | c.4408C>T (p.His1470Tyr) c.4294C>T (p.His1432Tyr) c.3043C>T (p.His1015Tyr) n.198C>T n.229C>T n.3231C>T c.4363C>T (p.His1455Tyr) c.3991C>T (p.His1331Tyr) c.4147C>T (p.His1383Tyr) c.4354C>T (p.His1452Tyr) c.3655C>T (p.His1219Tyr) c.4402C>T (p.His1468Tyr) | dbSNP |
16 | g.3736802G>C | CA394564028 | CREBBP | c.4408C>G (p.His1470Asp) c.4294C>G (p.His1432Asp) c.3043C>G (p.His1015Asp) n.198C>G n.229C>G n.3231C>G c.4363C>G (p.His1455Asp) c.3991C>G (p.His1331Asp) c.4147C>G (p.His1383Asp) c.4354C>G (p.His1452Asp) c.3655C>G (p.His1219Asp) c.4402C>G (p.His1468Asp) | dbSNP |
16 | g.3736802G>T | CA394564029 | CREBBP | c.4408C>A (p.His1470Asn) c.4294C>A (p.His1432Asn) c.3043C>A (p.His1015Asn) n.198C>A n.229C>A n.3231C>A c.4363C>A (p.His1455Asn) c.3991C>A (p.His1331Asn) c.4147C>A (p.His1383Asn) c.4354C>A (p.His1452Asn) c.3655C>A (p.His1219Asn) c.4402C>A (p.His1468Asn) | |
16 | g.3736803C>A | CA493279665 | CREBBP | c.4407G>T (p.Gly1469=) c.4293G>T (p.Gly1431=) c.3042G>T (p.Gly1014=) n.197G>T n.228G>T n.3230G>T c.4362G>T (p.Gly1454=) c.3990G>T (p.Gly1330=) c.4146G>T (p.Gly1382=) c.4353G>T (p.Gly1451=) c.3654G>T (p.Gly1218=) c.4401G>T (p.Gly1467=) | dbSNP |
16 | g.3736803C= | CA2202936723 | CREBBP | c.4407G= (p.Gly1469=) c.4293G= (p.Gly1431=) c.3042G= (p.Gly1014=) n.197G= n.228G= n.3230G= c.4362G= (p.Gly1454=) c.3990G= (p.Gly1330=) c.4146G= (p.Gly1382=) c.4353G= (p.Gly1451=) c.3654G= (p.Gly1218=) c.4401G= (p.Gly1467=) | |
16 | g.3736803C>G | CA493279667 | CREBBP | c.4407G>C (p.Gly1469=) c.4293G>C (p.Gly1431=) c.3042G>C (p.Gly1014=) n.197G>C n.228G>C n.3230G>C c.4362G>C (p.Gly1454=) c.3990G>C (p.Gly1330=) c.4146G>C (p.Gly1382=) c.4353G>C (p.Gly1451=) c.3654G>C (p.Gly1218=) c.4401G>C (p.Gly1467=) | dbSNP |
16 | g.3736803C>T | CA276980128 | CREBBP | c.4407G>A (p.Gly1469=) c.4293G>A (p.Gly1431=) c.3042G>A (p.Gly1014=) n.197G>A n.228G>A n.3230G>A c.4362G>A (p.Gly1454=) c.3990G>A (p.Gly1330=) c.4146G>A (p.Gly1382=) c.4353G>A (p.Gly1451=) c.3654G>A (p.Gly1218=) c.4401G>A (p.Gly1467=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3736804C>A | CA394564030 | CREBBP | c.4406G>T (p.Gly1469Val) c.4292G>T (p.Gly1431Val) c.3041G>T (p.Gly1014Val) n.196G>T n.227G>T n.3229G>T c.4361G>T (p.Gly1454Val) c.3989G>T (p.Gly1330Val) c.4145G>T (p.Gly1382Val) c.4352G>T (p.Gly1451Val) c.3653G>T (p.Gly1218Val) c.4400G>T (p.Gly1467Val) | dbSNP |
16 | g.3736804C>G | CA394564031 | CREBBP | c.4406G>C (p.Gly1469Ala) c.4292G>C (p.Gly1431Ala) c.3041G>C (p.Gly1014Ala) n.196G>C n.227G>C n.3229G>C c.4361G>C (p.Gly1454Ala) c.3989G>C (p.Gly1330Ala) c.4145G>C (p.Gly1382Ala) c.4352G>C (p.Gly1451Ala) c.3653G>C (p.Gly1218Ala) c.4400G>C (p.Gly1467Ala) | dbSNP |
16 | g.3736804C>T | CA394564032 | CREBBP | c.4406G>A (p.Gly1469Glu) c.4292G>A (p.Gly1431Glu) c.3041G>A (p.Gly1014Glu) n.196G>A n.227G>A n.3229G>A c.4361G>A (p.Gly1454Glu) c.3989G>A (p.Gly1330Glu) c.4145G>A (p.Gly1382Glu) c.4352G>A (p.Gly1451Glu) c.3653G>A (p.Gly1218Glu) c.4400G>A (p.Gly1467Glu) | |
16 | g.3736805C>A | CA394564034 | CREBBP | c.4405G>T (p.Gly1469Trp) c.4291G>T (p.Gly1431Trp) c.3040G>T (p.Gly1014Trp) n.195G>T n.226G>T n.3228G>T c.4360G>T (p.Gly1454Trp) c.3988G>T (p.Gly1330Trp) c.4144G>T (p.Gly1382Trp) c.4351G>T (p.Gly1451Trp) c.3652G>T (p.Gly1218Trp) c.4399G>T (p.Gly1467Trp) | dbSNP |
16 | g.3736805C= | CA2202936724 | CREBBP | c.4405G= (p.Gly1469=) c.4291G= (p.Gly1431=) c.3040G= (p.Gly1014=) n.195G= n.226G= n.3228G= c.4360G= (p.Gly1454=) c.3988G= (p.Gly1330=) c.4144G= (p.Gly1382=) c.4351G= (p.Gly1451=) c.3652G= (p.Gly1218=) c.4399G= (p.Gly1467=) | |
16 | g.3736805C>G | CA394564035 | CREBBP | c.4405G>C (p.Gly1469Arg) c.4291G>C (p.Gly1431Arg) c.3040G>C (p.Gly1014Arg) n.195G>C n.226G>C n.3228G>C c.4360G>C (p.Gly1454Arg) c.3988G>C (p.Gly1330Arg) c.4144G>C (p.Gly1382Arg) c.4351G>C (p.Gly1451Arg) c.3652G>C (p.Gly1218Arg) c.4399G>C (p.Gly1467Arg) | dbSNP |
16 | g.3736805C>T | CA394564033 | CREBBP | c.4405G>A (p.Gly1469Arg) c.4291G>A (p.Gly1431Arg) c.3040G>A (p.Gly1014Arg) n.195G>A n.226G>A n.3228G>A c.4360G>A (p.Gly1454Arg) c.3988G>A (p.Gly1330Arg) c.4144G>A (p.Gly1382Arg) c.4351G>A (p.Gly1451Arg) c.3652G>A (p.Gly1218Arg) c.4399G>A (p.Gly1467Arg) | dbSNP |
16 | g.3736805_3736806del | CA645575178 | CREBBP | c.4404_4405del (p.Gly1469AlafsTer9) c.4290_4291del (p.Gly1431AlafsTer9) c.3039_3040del (p.Gly1014AlafsTer9) n.194_195del n.225_226del n.3227_3228del c.4359_4360del (p.Gly1454AlafsTer9) c.3987_3988del (p.Gly1330AlafsTer9) c.4143_4144del (p.Gly1382AlafsTer9) c.4350_4351del (p.Gly1451AlafsTer9) c.3651_3652del (p.Gly1218AlafsTer9) c.4398_4399del (p.Gly1467AlafsTer9) | ClinVar dbSNP COSMIC |
16 | g.3736806T>A | CA493279676 | CREBBP | c.4404A>T (p.Thr1468=) c.4290A>T (p.Thr1430=) c.3039A>T (p.Thr1013=) n.194A>T n.225A>T n.3227A>T c.4359A>T (p.Thr1453=) c.3987A>T (p.Thr1329=) c.4143A>T (p.Thr1381=) c.4350A>T (p.Thr1450=) c.3651A>T (p.Thr1217=) c.4398A>T (p.Thr1466=) | dbSNP |
16 | g.3736806T>C | CA493279678 | CREBBP | c.4404A>G (p.Thr1468=) c.4290A>G (p.Thr1430=) c.3039A>G (p.Thr1013=) n.194A>G n.225A>G n.3227A>G c.4359A>G (p.Thr1453=) c.3987A>G (p.Thr1329=) c.4143A>G (p.Thr1381=) c.4350A>G (p.Thr1450=) c.3651A>G (p.Thr1217=) c.4398A>G (p.Thr1466=) | dbSNP |
16 | g.3736806T>G | CA493279679 | CREBBP | c.4404A>C (p.Thr1468=) c.4290A>C (p.Thr1430=) c.3039A>C (p.Thr1013=) n.194A>C n.225A>C n.3227A>C c.4359A>C (p.Thr1453=) c.3987A>C (p.Thr1329=) c.4143A>C (p.Thr1381=) c.4350A>C (p.Thr1450=) c.3651A>C (p.Thr1217=) c.4398A>C (p.Thr1466=) | |
16 | g.3736806dup | CA1139664475 | CREBBP | c.4404dup (p.Gly1469ArgfsTer10) c.4290dup (p.Gly1431ArgfsTer10) c.3039dup (p.Gly1014ArgfsTer10) n.194dup n.225dup n.3227dup c.4359dup (p.Gly1454ArgfsTer10) c.3987dup (p.Gly1330ArgfsTer10) c.4143dup (p.Gly1382ArgfsTer10) c.4350dup (p.Gly1451ArgfsTer10) c.3651dup (p.Gly1218ArgfsTer10) c.4398dup (p.Gly1467ArgfsTer10) | ClinVar dbSNP |
16 | g.3736807G>A | CA7869520 | CREBBP | c.4403C>T (p.Thr1468Ile) c.4289C>T (p.Thr1430Ile) c.3038C>T (p.Thr1013Ile) n.193C>T n.224C>T n.3226C>T c.4358C>T (p.Thr1453Ile) c.3986C>T (p.Thr1329Ile) c.4142C>T (p.Thr1381Ile) c.4349C>T (p.Thr1450Ile) c.3650C>T (p.Thr1217Ile) c.4397C>T (p.Thr1466Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3736807G>C | CA394564036 | CREBBP | c.4403C>G (p.Thr1468Arg) c.4289C>G (p.Thr1430Arg) c.3038C>G (p.Thr1013Arg) n.193C>G n.224C>G n.3226C>G c.4358C>G (p.Thr1453Arg) c.3986C>G (p.Thr1329Arg) c.4142C>G (p.Thr1381Arg) c.4349C>G (p.Thr1450Arg) c.3650C>G (p.Thr1217Arg) c.4397C>G (p.Thr1466Arg) | dbSNP |
16 | g.3736807G= | CA2202936727 | CREBBP | c.4403C= (p.Thr1468=) c.4289C= (p.Thr1430=) c.3038C= (p.Thr1013=) n.193C= n.224C= n.3226C= c.4358C= (p.Thr1453=) c.3986C= (p.Thr1329=) c.4142C= (p.Thr1381=) c.4349C= (p.Thr1450=) c.3650C= (p.Thr1217=) c.4397C= (p.Thr1466=) | |
16 | g.3736807G>T | CA394564037 | CREBBP | c.4403C>A (p.Thr1468Lys) c.4289C>A (p.Thr1430Lys) c.3038C>A (p.Thr1013Lys) n.193C>A n.224C>A n.3226C>A c.4358C>A (p.Thr1453Lys) c.3986C>A (p.Thr1329Lys) c.4142C>A (p.Thr1381Lys) c.4349C>A (p.Thr1450Lys) c.3650C>A (p.Thr1217Lys) c.4397C>A (p.Thr1466Lys) | |
16 | g.3736808T>A | CA394564038 | CREBBP | c.4402A>T (p.Thr1468Ser) c.4288A>T (p.Thr1430Ser) c.3037A>T (p.Thr1013Ser) n.192A>T n.223A>T n.3225A>T c.4357A>T (p.Thr1453Ser) c.3985A>T (p.Thr1329Ser) c.4141A>T (p.Thr1381Ser) c.4348A>T (p.Thr1450Ser) c.3649A>T (p.Thr1217Ser) c.4396A>T (p.Thr1466Ser) | |
16 | g.3736808T>C | CA394564039 | CREBBP | c.4402A>G (p.Thr1468Ala) c.4288A>G (p.Thr1430Ala) c.3037A>G (p.Thr1013Ala) n.192A>G n.223A>G n.3225A>G c.4357A>G (p.Thr1453Ala) c.3985A>G (p.Thr1329Ala) c.4141A>G (p.Thr1381Ala) c.4348A>G (p.Thr1450Ala) c.3649A>G (p.Thr1217Ala) c.4396A>G (p.Thr1466Ala) | |
16 | g.3736808T>G | CA394564040 | CREBBP | c.4402A>C (p.Thr1468Pro) c.4288A>C (p.Thr1430Pro) c.3037A>C (p.Thr1013Pro) n.192A>C n.223A>C n.3225A>C c.4357A>C (p.Thr1453Pro) c.3985A>C (p.Thr1329Pro) c.4141A>C (p.Thr1381Pro) c.4348A>C (p.Thr1450Pro) c.3649A>C (p.Thr1217Pro) c.4396A>C (p.Thr1466Pro) | |
16 | g.3736809del | CA2731850961 | CREBBP | c.4401del (p.Thr1468GlnfsTer?) c.4287del (p.Thr1430GlnfsTer?) c.3036del (p.Thr1013GlnfsTer?) n.191del n.222del n.3224del c.4356del (p.Thr1453GlnfsTer?) c.3984del (p.Thr1329GlnfsTer?) c.4140del (p.Thr1381GlnfsTer?) c.4347del (p.Thr1450GlnfsTer?) c.3648del (p.Thr1217GlnfsTer?) c.4395del (p.Thr1466GlnfsTer?) | dbSNP |
16 | g.3736809C>A | CA493279689 | CREBBP | c.4401G>T (p.Val1467=) c.4287G>T (p.Val1429=) c.3036G>T (p.Val1012=) n.191G>T n.222G>T n.3224G>T c.4356G>T (p.Val1452=) c.3984G>T (p.Val1328=) c.4140G>T (p.Val1380=) c.4347G>T (p.Val1449=) c.3648G>T (p.Val1216=) c.4395G>T (p.Val1465=) | |
16 | g.3736809C= | CA2202936729 | CREBBP | c.4401G= (p.Val1467=) c.4287G= (p.Val1429=) c.3036G= (p.Val1012=) n.191G= n.222G= n.3224G= c.4356G= (p.Val1452=) c.3984G= (p.Val1328=) c.4140G= (p.Val1380=) c.4347G= (p.Val1449=) c.3648G= (p.Val1216=) c.4395G= (p.Val1465=) | |
16 | g.3736809C>G | CA493279691 | CREBBP | c.4401G>C (p.Val1467=) c.4287G>C (p.Val1429=) c.3036G>C (p.Val1012=) n.191G>C n.222G>C n.3224G>C c.4356G>C (p.Val1452=) c.3984G>C (p.Val1328=) c.4140G>C (p.Val1380=) c.4347G>C (p.Val1449=) c.3648G>C (p.Val1216=) c.4395G>C (p.Val1465=) | dbSNP gnomAD v4 COSMIC |
16 | g.3736809C>T | CA493279687 | CREBBP | c.4401G>A (p.Val1467=) c.4287G>A (p.Val1429=) c.3036G>A (p.Val1012=) n.191G>A n.222G>A n.3224G>A c.4356G>A (p.Val1452=) c.3984G>A (p.Val1328=) c.4140G>A (p.Val1380=) c.4347G>A (p.Val1449=) c.3648G>A (p.Val1216=) c.4395G>A (p.Val1465=) | dbSNP |
16 | g.3736811_3736812del | CA2695222633 | CREBBP | c.4400_4401del (p.Val1467AspfsTer11) c.4286_4287del (p.Val1429AspfsTer11) c.3035_3036del (p.Val1012AspfsTer11) n.190_191del n.221_222del n.3223_3224del c.4355_4356del (p.Val1452AspfsTer11) c.3983_3984del (p.Val1328AspfsTer11) c.4139_4140del (p.Val1380AspfsTer11) c.4346_4347del (p.Val1449AspfsTer11) c.3647_3648del (p.Val1216AspfsTer11) c.4394_4395del (p.Val1465AspfsTer11) | |
16 | g.3736810del | CA2695222634 | CREBBP | c.4400del (p.Val1467GlyfsTer?) c.4286del (p.Val1429GlyfsTer?) c.3035del (p.Val1012GlyfsTer?) n.190del n.221del n.3223del c.4355del (p.Val1452GlyfsTer?) c.3983del (p.Val1328GlyfsTer?) c.4139del (p.Val1380GlyfsTer?) c.4346del (p.Val1449GlyfsTer?) c.3647del (p.Val1216GlyfsTer?) c.4394del (p.Val1465GlyfsTer?) | |
16 | g.3736810A>C | CA394564041 | CREBBP | c.4400T>G (p.Val1467Gly) c.4286T>G (p.Val1429Gly) c.3035T>G (p.Val1012Gly) n.190T>G n.221T>G n.3223T>G c.4355T>G (p.Val1452Gly) c.3983T>G (p.Val1328Gly) c.4139T>G (p.Val1380Gly) c.4346T>G (p.Val1449Gly) c.3647T>G (p.Val1216Gly) c.4394T>G (p.Val1465Gly) | dbSNP |
16 | g.3736810A>G | CA394564042 | CREBBP | c.4400T>C (p.Val1467Ala) c.4286T>C (p.Val1429Ala) c.3035T>C (p.Val1012Ala) n.190T>C n.221T>C n.3223T>C c.4355T>C (p.Val1452Ala) c.3983T>C (p.Val1328Ala) c.4139T>C (p.Val1380Ala) c.4346T>C (p.Val1449Ala) c.3647T>C (p.Val1216Ala) c.4394T>C (p.Val1465Ala) | |
16 | g.3736810A>T | CA394564043 | CREBBP | c.4400T>A (p.Val1467Glu) c.4286T>A (p.Val1429Glu) c.3035T>A (p.Val1012Glu) n.190T>A n.221T>A n.3223T>A c.4355T>A (p.Val1452Glu) c.3983T>A (p.Val1328Glu) c.4139T>A (p.Val1380Glu) c.4346T>A (p.Val1449Glu) c.3647T>A (p.Val1216Glu) c.4394T>A (p.Val1465Glu) | dbSNP |
16 | g.3736812_3736815dup | CA2695222635 | CREBBP | c.4397_4400dup (p.Thr1468CysfsTer12) c.4283_4286dup (p.Thr1430CysfsTer12) c.3032_3035dup (p.Thr1013CysfsTer12) n.187_190dup n.218_221dup n.3220_3223dup c.4352_4355dup (p.Thr1453CysfsTer12) c.3980_3983dup (p.Thr1329CysfsTer12) c.4136_4139dup (p.Thr1381CysfsTer12) c.4343_4346dup (p.Thr1450CysfsTer12) c.3644_3647dup (p.Thr1217CysfsTer12) c.4391_4394dup (p.Thr1466CysfsTer12) | |
16 | g.3736811del | CA2695222636 | CREBBP | c.4399del (p.Val1467Ter) c.4285del (p.Val1429Ter) c.3034del (p.Val1012Ter) n.189del n.220del n.3222del c.4354del (p.Val1452Ter) c.3982del (p.Val1328Ter) c.4138del (p.Val1380Ter) c.4345del (p.Val1449Ter) c.3646del (p.Val1216Ter) c.4393del (p.Val1465Ter) | |
16 | g.3736811C>A | CA394564044 | CREBBP | c.4399G>T (p.Val1467Leu) c.4285G>T (p.Val1429Leu) c.3034G>T (p.Val1012Leu) n.189G>T n.220G>T n.3222G>T c.4354G>T (p.Val1452Leu) c.3982G>T (p.Val1328Leu) c.4138G>T (p.Val1380Leu) c.4345G>T (p.Val1449Leu) c.3646G>T (p.Val1216Leu) c.4393G>T (p.Val1465Leu) | |
16 | g.3736811C>G | CA394564045 | CREBBP | c.4399G>C (p.Val1467Leu) c.4285G>C (p.Val1429Leu) c.3034G>C (p.Val1012Leu) n.189G>C n.220G>C n.3222G>C c.4354G>C (p.Val1452Leu) c.3982G>C (p.Val1328Leu) c.4138G>C (p.Val1380Leu) c.4345G>C (p.Val1449Leu) c.3646G>C (p.Val1216Leu) c.4393G>C (p.Val1465Leu) | dbSNP |
16 | g.3736811C>T | CA394564046 | CREBBP | c.4399G>A (p.Val1467Met) c.4285G>A (p.Val1429Met) c.3034G>A (p.Val1012Met) n.189G>A n.220G>A n.3222G>A c.4354G>A (p.Val1452Met) c.3982G>A (p.Val1328Met) c.4138G>A (p.Val1380Met) c.4345G>A (p.Val1449Met) c.3646G>A (p.Val1216Met) c.4393G>A (p.Val1465Met) | dbSNP |
16 | g.3736812A= | CA2202936731 | CREBBP | c.4398T= (p.Tyr1466=) c.4284T= (p.Tyr1428=) c.3033T= (p.Tyr1011=) n.188T= n.219T= n.3221T= c.4353T= (p.Tyr1451=) c.3981T= (p.Tyr1327=) c.4137T= (p.Tyr1379=) c.4344T= (p.Tyr1448=) c.3645T= (p.Tyr1215=) c.4392T= (p.Tyr1464=) | |
16 | g.3736812A>C | CA394564047 | CREBBP | c.4398T>G (p.Tyr1466Ter) c.4284T>G (p.Tyr1428Ter) c.3033T>G (p.Tyr1011Ter) n.188T>G n.219T>G n.3221T>G c.4353T>G (p.Tyr1451Ter) c.3981T>G (p.Tyr1327Ter) c.4137T>G (p.Tyr1379Ter) c.4344T>G (p.Tyr1448Ter) c.3645T>G (p.Tyr1215Ter) c.4392T>G (p.Tyr1464Ter) | |
16 | g.3736812A>G | CA7869521 | CREBBP | c.4398T>C (p.Tyr1466=) c.4284T>C (p.Tyr1428=) c.3033T>C (p.Tyr1011=) n.188T>C n.219T>C n.3221T>C c.4353T>C (p.Tyr1451=) c.3981T>C (p.Tyr1327=) c.4137T>C (p.Tyr1379=) c.4344T>C (p.Tyr1448=) c.3645T>C (p.Tyr1215=) c.4392T>C (p.Tyr1464=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3736812A>T | CA271413 | CREBBP | c.4398T>A (p.Tyr1466Ter) c.4284T>A (p.Tyr1428Ter) c.3033T>A (p.Tyr1011Ter) n.188T>A n.219T>A n.3221T>A c.4353T>A (p.Tyr1451Ter) c.3981T>A (p.Tyr1327Ter) c.4137T>A (p.Tyr1379Ter) c.4344T>A (p.Tyr1448Ter) c.3645T>A (p.Tyr1215Ter) c.4392T>A (p.Tyr1464Ter) | ClinVar dbSNP |
16 | g.3736813T>A | CA276980156 | CREBBP | c.4397A>T (p.Tyr1466Phe) c.4283A>T (p.Tyr1428Phe) c.3032A>T (p.Tyr1011Phe) n.187A>T n.218A>T n.3220A>T c.4352A>T (p.Tyr1451Phe) c.3980A>T (p.Tyr1327Phe) c.4136A>T (p.Tyr1379Phe) c.4343A>T (p.Tyr1448Phe) c.3644A>T (p.Tyr1215Phe) c.4391A>T (p.Tyr1464Phe) | ClinVar dbSNP gnomAD v4 |
16 | g.3736813T>C | CA394564048 | CREBBP | c.4397A>G (p.Tyr1466Cys) c.4283A>G (p.Tyr1428Cys) c.3032A>G (p.Tyr1011Cys) n.187A>G n.218A>G n.3220A>G c.4352A>G (p.Tyr1451Cys) c.3980A>G (p.Tyr1327Cys) c.4136A>G (p.Tyr1379Cys) c.4343A>G (p.Tyr1448Cys) c.3644A>G (p.Tyr1215Cys) c.4391A>G (p.Tyr1464Cys) | |
16 | g.3736813T>G | CA394564049 | CREBBP | c.4397A>C (p.Tyr1466Ser) c.4283A>C (p.Tyr1428Ser) c.3032A>C (p.Tyr1011Ser) n.187A>C n.218A>C n.3220A>C c.4352A>C (p.Tyr1451Ser) c.3980A>C (p.Tyr1327Ser) c.4136A>C (p.Tyr1379Ser) c.4343A>C (p.Tyr1448Ser) c.3644A>C (p.Tyr1215Ser) c.4391A>C (p.Tyr1464Ser) | |
16 | g.3736813T= | CA2202936735 | CREBBP | c.4397A= (p.Tyr1466=) c.4283A= (p.Tyr1428=) c.3032A= (p.Tyr1011=) n.187A= n.218A= n.3220A= c.4352A= (p.Tyr1451=) c.3980A= (p.Tyr1327=) c.4136A= (p.Tyr1379=) c.4343A= (p.Tyr1448=) c.3644A= (p.Tyr1215=) c.4391A= (p.Tyr1464=) | |
16 | g.3736814A>C | CA394564050 | CREBBP | c.4396T>G (p.Tyr1466Asp) c.4282T>G (p.Tyr1428Asp) c.3031T>G (p.Tyr1011Asp) n.186T>G n.217T>G n.3219T>G c.4351T>G (p.Tyr1451Asp) c.3979T>G (p.Tyr1327Asp) c.4135T>G (p.Tyr1379Asp) c.4342T>G (p.Tyr1448Asp) c.3643T>G (p.Tyr1215Asp) c.4390T>G (p.Tyr1464Asp) | dbSNP |
16 | g.3736814A>G | CA394564051 | CREBBP | c.4396T>C (p.Tyr1466His) c.4282T>C (p.Tyr1428His) c.3031T>C (p.Tyr1011His) n.186T>C n.217T>C n.3219T>C c.4351T>C (p.Tyr1451His) c.3979T>C (p.Tyr1327His) c.4135T>C (p.Tyr1379His) c.4342T>C (p.Tyr1448His) c.3643T>C (p.Tyr1215His) c.4390T>C (p.Tyr1464His) | dbSNP gnomAD v4 |
16 | g.3736814A>T | CA394564052 | CREBBP | c.4396T>A (p.Tyr1466Asn) c.4282T>A (p.Tyr1428Asn) c.3031T>A (p.Tyr1011Asn) n.186T>A n.217T>A n.3219T>A c.4351T>A (p.Tyr1451Asn) c.3979T>A (p.Tyr1327Asn) c.4135T>A (p.Tyr1379Asn) c.4342T>A (p.Tyr1448Asn) c.3643T>A (p.Tyr1215Asn) c.4390T>A (p.Tyr1464Asn) | dbSNP |
16 | g.3736814dup | CA645575179 | CREBBP | c.4396dup (p.Tyr1466LeufsTer13) c.4282dup (p.Tyr1428LeufsTer13) c.3031dup (p.Tyr1011LeufsTer13) n.186dup n.217dup n.3219dup c.4351dup (p.Tyr1451LeufsTer13) c.3979dup (p.Tyr1327LeufsTer13) c.4135dup (p.Tyr1379LeufsTer13) c.4342dup (p.Tyr1448LeufsTer13) c.3643dup (p.Tyr1215LeufsTer13) c.4390dup (p.Tyr1464LeufsTer13) | COSMIC |
16 | g.3736815C>A | CA493279720 | CREBBP | c.4395G>T (p.Gly1465=) c.4281G>T (p.Gly1427=) c.3030G>T (p.Gly1010=) n.185G>T n.216G>T n.3218G>T c.4350G>T (p.Gly1450=) c.3978G>T (p.Gly1326=) c.4134G>T (p.Arg1378=) c.4341G>T (p.Gly1447=) c.3642G>T (p.Gly1214=) c.4389G>T (p.Gly1463=) | dbSNP |
16 | g.3736815C>G | CA493279723 | CREBBP | c.4395G>C (p.Gly1465=) c.4281G>C (p.Gly1427=) c.3030G>C (p.Gly1010=) n.185G>C n.216G>C n.3218G>C c.4350G>C (p.Gly1450=) c.3978G>C (p.Gly1326=) c.4134G>C (p.Arg1378=) c.4341G>C (p.Gly1447=) c.3642G>C (p.Gly1214=) c.4389G>C (p.Gly1463=) | dbSNP gnomAD v4 |
16 | g.3736815C>T | CA493279725 | CREBBP | c.4395G>A (p.Gly1465=) c.4281G>A (p.Gly1427=) c.3030G>A (p.Gly1010=) n.185G>A n.216G>A n.3218G>A c.4350G>A (p.Gly1450=) c.3978G>A (p.Gly1326=) c.4134G>A (p.Arg1378=) c.4341G>A (p.Gly1447=) c.3642G>A (p.Gly1214=) c.4389G>A (p.Gly1463=) | dbSNP |
16 | g.3736816C>A | CA394564055 | CREBBP | c.4395-1G>T (n.4395-1G>T) c.4281-1G>T (n.4281-1G>T) c.3030-1G>T (n.3030-1G>T) n.184G>T n.216-1G>T n.3218-1G>T c.4350-1G>T (n.4350-1G>T) c.3978-1G>T (n.3978-1G>T) c.4134-1G>T (n.4134-1G>T) c.4341-1G>T (n.4341-1G>T) c.3642-1G>T (n.3642-1G>T) c.4389-1G>T (n.4389-1G>T) | dbSNP |
16 | g.3736816C>G | CA394564053 | CREBBP | c.4395-1G>C (n.4395-1G>C) c.4281-1G>C (n.4281-1G>C) c.3030-1G>C (n.3030-1G>C) n.184G>C n.216-1G>C n.3218-1G>C c.4350-1G>C (n.4350-1G>C) c.3978-1G>C (n.3978-1G>C) c.4134-1G>C (n.4134-1G>C) c.4341-1G>C (n.4341-1G>C) c.3642-1G>C (n.3642-1G>C) c.4389-1G>C (n.4389-1G>C) | dbSNP |
16 | g.3736816C>T | CA394564054 | CREBBP | c.4395-1G>A (n.4395-1G>A) c.4281-1G>A (n.4281-1G>A) c.3030-1G>A (n.3030-1G>A) n.184G>A n.216-1G>A n.3218-1G>A c.4350-1G>A (n.4350-1G>A) c.3978-1G>A (n.3978-1G>A) c.4134-1G>A (n.4134-1G>A) c.4341-1G>A (n.4341-1G>A) c.3642-1G>A (n.3642-1G>A) c.4389-1G>A (n.4389-1G>A) | COSMIC |
16 | g.3736816_3736818delinsGTGA | CA2695196511 | CREBBP | c.4395-3_4395-1delinsTCAC (n.4395-3_4395-1delinsTCAC) c.4281-3_4281-1delinsTCAC (n.4281-3_4281-1delinsTCAC) c.3030-3_3030-1delinsTCAC (n.3030-3_3030-1delinsTCAC) n.182_184delinsTCAC n.216-3_216-1delinsTCAC n.3218-3_3218-1delinsTCAC c.4350-3_4350-1delinsTCAC (n.4350-3_4350-1delinsTCAC) c.3978-3_3978-1delinsTCAC (n.3978-3_3978-1delinsTCAC) c.4134-3_4134-1delinsTCAC (n.4134-3_4134-1delinsTCAC) c.4341-3_4341-1delinsTCAC (n.4341-3_4341-1delinsTCAC) c.3642-3_3642-1delinsTCAC (n.3642-3_3642-1delinsTCAC) c.4389-3_4389-1delinsTCAC (n.4389-3_4389-1delinsTCAC) | |
16 | g.3736817T>A | CA394564056 | CREBBP | c.4395-2A>T (n.4395-2A>T) c.4281-2A>T (n.4281-2A>T) c.3030-2A>T (n.3030-2A>T) n.183A>T n.216-2A>T n.3218-2A>T c.4350-2A>T (n.4350-2A>T) c.3978-2A>T (n.3978-2A>T) c.4134-2A>T (n.4134-2A>T) c.4341-2A>T (n.4341-2A>T) c.3642-2A>T (n.3642-2A>T) c.4389-2A>T (n.4389-2A>T) | ClinVar dbSNP |
16 | g.3736817T>C | CA394564057 | CREBBP | c.4395-2A>G (n.4395-2A>G) c.4281-2A>G (n.4281-2A>G) c.3030-2A>G (n.3030-2A>G) n.183A>G n.216-2A>G n.3218-2A>G c.4350-2A>G (n.4350-2A>G) c.3978-2A>G (n.3978-2A>G) c.4134-2A>G (n.4134-2A>G) c.4341-2A>G (n.4341-2A>G) c.3642-2A>G (n.3642-2A>G) c.4389-2A>G (n.4389-2A>G) | dbSNP |
16 | g.3736817T>G | CA394564058 | CREBBP | c.4395-2A>C (n.4395-2A>C) c.4281-2A>C (n.4281-2A>C) c.3030-2A>C (n.3030-2A>C) n.183A>C n.216-2A>C n.3218-2A>C c.4350-2A>C (n.4350-2A>C) c.3978-2A>C (n.3978-2A>C) c.4134-2A>C (n.4134-2A>C) c.4341-2A>C (n.4341-2A>C) c.3642-2A>C (n.3642-2A>C) c.4389-2A>C (n.4389-2A>C) | ClinVar dbSNP |
16 | g.3736818G>A | CA2631401633 | CREBBP | c.4395-3C>T (n.4395-3C>T) c.4281-3C>T (n.4281-3C>T) c.3030-3C>T (n.3030-3C>T) n.182C>T n.216-3C>T n.3218-3C>T c.4350-3C>T (n.4350-3C>T) c.3978-3C>T (n.3978-3C>T) c.4134-3C>T (n.4134-3C>T) c.4341-3C>T (n.4341-3C>T) c.3642-3C>T (n.3642-3C>T) c.4389-3C>T (n.4389-3C>T) | dbSNP gnomAD v4 |
16 | g.3736818G>C | CA2731850978 | CREBBP | c.4395-3C>G (n.4395-3C>G) c.4281-3C>G (n.4281-3C>G) c.3030-3C>G (n.3030-3C>G) n.182C>G n.216-3C>G n.3218-3C>G c.4350-3C>G (n.4350-3C>G) c.3978-3C>G (n.3978-3C>G) c.4134-3C>G (n.4134-3C>G) c.4341-3C>G (n.4341-3C>G) c.3642-3C>G (n.3642-3C>G) c.4389-3C>G (n.4389-3C>G) | dbSNP |
16 | g.3736818G>T | CA2731850980 | CREBBP | c.4395-3C>A (n.4395-3C>A) c.4281-3C>A (n.4281-3C>A) c.3030-3C>A (n.3030-3C>A) n.182C>A n.216-3C>A n.3218-3C>A c.4350-3C>A (n.4350-3C>A) c.3978-3C>A (n.3978-3C>A) c.4134-3C>A (n.4134-3C>A) c.4341-3C>A (n.4341-3C>A) c.3642-3C>A (n.3642-3C>A) c.4389-3C>A (n.4389-3C>A) | dbSNP |
16 | g.3736818_3736819insA | CA2695196512 | CREBBP | c.4395-4_4395-3insT (n.4395-4_4395-3insT) c.4281-4_4281-3insT (n.4281-4_4281-3insT) c.3030-4_3030-3insT (n.3030-4_3030-3insT) n.181_182insT n.216-4_216-3insT n.3218-4_3218-3insT c.4350-4_4350-3insT (n.4350-4_4350-3insT) c.3978-4_3978-3insT (n.3978-4_3978-3insT) c.4134-4_4134-3insT (n.4134-4_4134-3insT) c.4341-4_4341-3insT (n.4341-4_4341-3insT) c.3642-4_3642-3insT (n.3642-4_3642-3insT) c.4389-4_4389-3insT (n.4389-4_4389-3insT) | |
16 | g.3736819C>A | CA2731625332 | CREBBP | c.4395-4G>T (n.4395-4G>T) c.4281-4G>T (n.4281-4G>T) c.3030-4G>T (n.3030-4G>T) n.181G>T n.216-4G>T n.3218-4G>T c.4350-4G>T (n.4350-4G>T) c.3978-4G>T (n.3978-4G>T) c.4134-4G>T (n.4134-4G>T) c.4341-4G>T (n.4341-4G>T) c.3642-4G>T (n.3642-4G>T) c.4389-4G>T (n.4389-4G>T) | dbSNP |
16 | g.3736819C= | CA2202936738 | CREBBP | c.4395-4G= (n.4395-4G=) c.4281-4G= (n.4281-4G=) c.3030-4G= (n.3030-4G=) n.181G= n.216-4G= n.3218-4G= c.4350-4G= (n.4350-4G=) c.3978-4G= (n.3978-4G=) c.4134-4G= (n.4134-4G=) c.4341-4G= (n.4341-4G=) c.3642-4G= (n.3642-4G=) c.4389-4G= (n.4389-4G=) | |
16 | g.3736819C>G | CA620714595 | CREBBP | c.4395-4G>C (n.4395-4G>C) c.4281-4G>C (n.4281-4G>C) c.3030-4G>C (n.3030-4G>C) n.181G>C n.216-4G>C n.3218-4G>C c.4350-4G>C (n.4350-4G>C) c.3978-4G>C (n.3978-4G>C) c.4134-4G>C (n.4134-4G>C) c.4341-4G>C (n.4341-4G>C) c.3642-4G>C (n.3642-4G>C) c.4389-4G>C (n.4389-4G>C) | dbSNP gnomAD v2 |
16 | g.3736819C>T | CA2731625331 | CREBBP | c.4395-4G>A (n.4395-4G>A) c.4281-4G>A (n.4281-4G>A) c.3030-4G>A (n.3030-4G>A) n.181G>A n.216-4G>A n.3218-4G>A c.4350-4G>A (n.4350-4G>A) c.3978-4G>A (n.3978-4G>A) c.4134-4G>A (n.4134-4G>A) c.4341-4G>A (n.4341-4G>A) c.3642-4G>A (n.3642-4G>A) c.4389-4G>A (n.4389-4G>A) | dbSNP |
16 | g.3736821G>A | CA2573151988 | CREBBP | c.4395-6C>T (n.4395-6C>T) c.4281-6C>T (n.4281-6C>T) c.3030-6C>T (n.3030-6C>T) n.179C>T n.216-6C>T n.3218-6C>T c.4350-6C>T (n.4350-6C>T) c.3978-6C>T (n.3978-6C>T) c.4134-6C>T (n.4134-6C>T) c.4341-6C>T (n.4341-6C>T) c.3642-6C>T (n.3642-6C>T) c.4389-6C>T (n.4389-6C>T) | ClinVar dbSNP gnomAD v4 |
16 | g.3736821G>C | CA2731850981 | CREBBP | c.4395-6C>G (n.4395-6C>G) c.4281-6C>G (n.4281-6C>G) c.3030-6C>G (n.3030-6C>G) n.179C>G n.216-6C>G n.3218-6C>G c.4350-6C>G (n.4350-6C>G) c.3978-6C>G (n.3978-6C>G) c.4134-6C>G (n.4134-6C>G) c.4341-6C>G (n.4341-6C>G) c.3642-6C>G (n.3642-6C>G) c.4389-6C>G (n.4389-6C>G) | dbSNP |
16 | g.3736822G>A | CA2631401635 | CREBBP | c.4395-7C>T (n.4395-7C>T) c.4281-7C>T (n.4281-7C>T) c.3030-7C>T (n.3030-7C>T) n.178C>T n.216-7C>T n.3218-7C>T c.4350-7C>T (n.4350-7C>T) c.3978-7C>T (n.3978-7C>T) c.4134-7C>T (n.4134-7C>T) c.4341-7C>T (n.4341-7C>T) c.3642-7C>T (n.3642-7C>T) c.4389-7C>T (n.4389-7C>T) | gnomAD v4 |
16 | g.3736822G>C | CA720725669 | CREBBP | c.4395-7C>G (n.4395-7C>G) c.4281-7C>G (n.4281-7C>G) c.3030-7C>G (n.3030-7C>G) n.178C>G n.216-7C>G n.3218-7C>G c.4350-7C>G (n.4350-7C>G) c.3978-7C>G (n.3978-7C>G) c.4134-7C>G (n.4134-7C>G) c.4341-7C>G (n.4341-7C>G) c.3642-7C>G (n.3642-7C>G) c.4389-7C>G (n.4389-7C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3736822G= | CA2202936740 | CREBBP | c.4395-7C= (n.4395-7C=) c.4281-7C= (n.4281-7C=) c.3030-7C= (n.3030-7C=) n.178C= n.216-7C= n.3218-7C= c.4350-7C= (n.4350-7C=) c.3978-7C= (n.3978-7C=) c.4134-7C= (n.4134-7C=) c.4341-7C= (n.4341-7C=) c.3642-7C= (n.3642-7C=) c.4389-7C= (n.4389-7C=) | |
16 | g.3736824C>A | CA2631401638 | CREBBP | c.4395-9G>T (n.4395-9G>T) c.4281-9G>T (n.4281-9G>T) c.3030-9G>T (n.3030-9G>T) n.176G>T n.216-9G>T n.3218-9G>T c.4350-9G>T (n.4350-9G>T) c.3978-9G>T (n.3978-9G>T) c.4134-9G>T (n.4134-9G>T) c.4341-9G>T (n.4341-9G>T) c.3642-9G>T (n.3642-9G>T) c.4389-9G>T (n.4389-9G>T) | dbSNP gnomAD v4 |
16 | g.3736824C= | CA2202936742 | CREBBP | c.4395-9G= (n.4395-9G=) c.4281-9G= (n.4281-9G=) c.3030-9G= (n.3030-9G=) n.176G= n.216-9G= n.3218-9G= c.4350-9G= (n.4350-9G=) c.3978-9G= (n.3978-9G=) c.4134-9G= (n.4134-9G=) c.4341-9G= (n.4341-9G=) c.3642-9G= (n.3642-9G=) c.4389-9G= (n.4389-9G=) | |
16 | g.3736824C>G | CA2731850984 | CREBBP | c.4395-9G>C (n.4395-9G>C) c.4281-9G>C (n.4281-9G>C) c.3030-9G>C (n.3030-9G>C) n.176G>C n.216-9G>C n.3218-9G>C c.4350-9G>C (n.4350-9G>C) c.3978-9G>C (n.3978-9G>C) c.4134-9G>C (n.4134-9G>C) c.4341-9G>C (n.4341-9G>C) c.3642-9G>C (n.3642-9G>C) c.4389-9G>C (n.4389-9G>C) | dbSNP |
16 | g.3736824C>T | CA2631401639 | CREBBP | c.4395-9G>A (n.4395-9G>A) c.4281-9G>A (n.4281-9G>A) c.3030-9G>A (n.3030-9G>A) n.176G>A n.216-9G>A n.3218-9G>A c.4350-9G>A (n.4350-9G>A) c.3978-9G>A (n.3978-9G>A) c.4134-9G>A (n.4134-9G>A) c.4341-9G>A (n.4341-9G>A) c.3642-9G>A (n.3642-9G>A) c.4389-9G>A (n.4389-9G>A) | dbSNP gnomAD v4 |
16 | g.3736826_3737054del | CA2695222638 | CREBBP | c.4395-237_4395-9del (n.4395-237_4395-9del) c.4281-237_4281-9del (n.4281-237_4281-9del) c.3030-237_3030-9del (n.3030-237_3030-9del) n.216-237_216-9del n.3218-237_3218-9del c.4350-237_4350-9del (n.4350-237_4350-9del) c.3978-237_3978-9del (n.3978-237_3978-9del) c.4134-237_4134-9del (n.4134-237_4134-9del) c.4341-237_4341-9del (n.4341-237_4341-9del) c.3642-237_3642-9del (n.3642-237_3642-9del) c.4389-237_4389-9del (n.4389-237_4389-9del) |