| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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 |