Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3810558G>A | CA2731708490 | CREBBP | c.975+45C>T (n.975+45C>T) c.921+45C>T (n.921+45C>T) c.222+45C>T (n.222+45C>T) | dbSNP |
16 | g.3810558G>T | CA2631429534 | CREBBP | c.975+45C>A (n.975+45C>A) c.921+45C>A (n.921+45C>A) c.222+45C>A (n.222+45C>A) | gnomAD v4 |
16 | g.3810559C>A | CA7870540 | CREBBP | c.975+44G>T (n.975+44G>T) c.921+44G>T (n.921+44G>T) c.222+44G>T (n.222+44G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810559C= | CA2202971789 | CREBBP | c.975+44G= (n.975+44G=) c.921+44G= (n.921+44G=) c.222+44G= (n.222+44G=) | |
16 | g.3810559C>T | CA2731578485 | CREBBP | c.975+44G>A (n.975+44G>A) c.921+44G>A (n.921+44G>A) c.222+44G>A (n.222+44G>A) | dbSNP |
16 | g.3810561C>A | CA2731647217 | CREBBP | c.975+42G>T (n.975+42G>T) c.921+42G>T (n.921+42G>T) c.222+42G>T (n.222+42G>T) | dbSNP |
16 | g.3810561C= | CA2202971790 | CREBBP | c.975+42G= (n.975+42G=) c.921+42G= (n.921+42G=) c.222+42G= (n.222+42G=) | |
16 | g.3810561C>G | CA2202971791 | CREBBP | c.975+42G>C (n.975+42G>C) c.921+42G>C (n.921+42G>C) c.222+42G>C (n.222+42G>C) | dbSNP gnomAD v4 |
16 | g.3810562C= | CA2202971792 | CREBBP | c.975+41G= (n.975+41G=) c.921+41G= (n.921+41G=) c.222+41G= (n.222+41G=) | |
16 | g.3810562C>T | CA277007669 | CREBBP | c.975+41G>A (n.975+41G>A) c.921+41G>A (n.921+41G>A) c.222+41G>A (n.222+41G>A) | dbSNP gnomAD v4 |
16 | g.3810563C>A | CA2575918624 | CREBBP | c.975+40G>T (n.975+40G>T) c.921+40G>T (n.921+40G>T) c.222+40G>T (n.222+40G>T) | |
16 | g.3810563C= | CA2202971793 | CREBBP | c.975+40G= (n.975+40G=) c.921+40G= (n.921+40G=) c.222+40G= (n.222+40G=) | |
16 | g.3810563C>G | CA7870541 | CREBBP | c.975+40G>C (n.975+40G>C) c.921+40G>C (n.921+40G>C) c.222+40G>C (n.222+40G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810564A= | CA2202971794 | CREBBP | c.975+39T= (n.975+39T=) c.921+39T= (n.921+39T=) c.222+39T= (n.222+39T=) | |
16 | g.3810564A>G | CA620714699 | CREBBP | c.975+39T>C (n.975+39T>C) c.921+39T>C (n.921+39T>C) c.222+39T>C (n.222+39T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3810565C>T | CA2631429535 | CREBBP | c.975+38G>A (n.975+38G>A) c.921+38G>A (n.921+38G>A) c.222+38G>A (n.222+38G>A) | gnomAD v4 |
16 | g.3810566C>A | CA2631429536 | CREBBP | c.975+37G>T (n.975+37G>T) c.921+37G>T (n.921+37G>T) c.222+37G>T (n.222+37G>T) | gnomAD v4 |
16 | g.3810566C= | CA2202971795 | CREBBP | c.975+37G= (n.975+37G=) c.921+37G= (n.921+37G=) c.222+37G= (n.222+37G=) | |
16 | g.3810566C>T | CA7870542 | CREBBP | c.975+37G>A (n.975+37G>A) c.921+37G>A (n.921+37G>A) c.222+37G>A (n.222+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810567G>A | CA7870543 | CREBBP | c.975+36C>T (n.975+36C>T) c.921+36C>T (n.921+36C>T) c.222+36C>T (n.222+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810567G>C | CA2731570292 | CREBBP | c.975+36C>G (n.975+36C>G) c.921+36C>G (n.921+36C>G) c.222+36C>G (n.222+36C>G) | dbSNP |
16 | g.3810567G= | CA2202971796 | CREBBP | c.975+36C= (n.975+36C=) c.921+36C= (n.921+36C=) c.222+36C= (n.222+36C=) | |
16 | g.3810567G>T | CA2575918625 | CREBBP | c.975+36C>A (n.975+36C>A) c.921+36C>A (n.921+36C>A) c.222+36C>A (n.222+36C>A) | |
16 | g.3810568G>A | CA2805635544 | CREBBP | c.975+35C>T (n.975+35C>T) c.921+35C>T (n.921+35C>T) c.222+35C>T (n.222+35C>T) | |
16 | g.3810568G>C | CA2731708491 | CREBBP | c.975+35C>G (n.975+35C>G) c.921+35C>G (n.921+35C>G) c.222+35C>G (n.222+35C>G) | dbSNP |
16 | g.3810570G>A | CA7870544 | CREBBP | c.975+33C>T (n.975+33C>T) c.921+33C>T (n.921+33C>T) c.222+33C>T (n.222+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810570G= | CA2202971797 | CREBBP | c.975+33C= (n.975+33C=) c.921+33C= (n.921+33C=) c.222+33C= (n.222+33C=) | |
16 | g.3810571A>G | CA2631429537 | CREBBP | c.975+32T>C (n.975+32T>C) c.921+32T>C (n.921+32T>C) c.222+32T>C (n.222+32T>C) | gnomAD v4 |
16 | g.3810572G>A | CA277007689 | CREBBP | c.975+31C>T (n.975+31C>T) c.921+31C>T (n.921+31C>T) c.222+31C>T (n.222+31C>T) | dbSNP gnomAD v4 |
16 | g.3810572G= | CA2202971798 | CREBBP | c.975+31C= (n.975+31C=) c.921+31C= (n.921+31C=) c.222+31C= (n.222+31C=) | |
16 | g.3810573C>A | CA2631429538 | CREBBP | c.975+30G>T (n.975+30G>T) c.921+30G>T (n.921+30G>T) c.222+30G>T (n.222+30G>T) | gnomAD v4 |
16 | g.3810573C= | CA2202971799 | CREBBP | c.975+30G= (n.975+30G=) c.921+30G= (n.921+30G=) c.222+30G= (n.222+30G=) | |
16 | g.3810573C>G | CA620714700 | CREBBP | c.975+30G>C (n.975+30G>C) c.921+30G>C (n.921+30G>C) c.222+30G>C (n.222+30G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810575A= | CA2202971800 | CREBBP | c.975+28T= (n.975+28T=) c.921+28T= (n.921+28T=) c.222+28T= (n.222+28T=) | |
16 | g.3810575A>C | CA7870546 | CREBBP | c.975+28T>G (n.975+28T>G) c.921+28T>G (n.921+28T>G) c.222+28T>G (n.222+28T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810575A>G | CA7870545 | CREBBP | c.975+28T>C (n.975+28T>C) c.921+28T>C (n.921+28T>C) c.222+28T>C (n.222+28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810576T>C | CA973923588 | CREBBP | c.975+27A>G (n.975+27A>G) c.921+27A>G (n.921+27A>G) c.222+27A>G (n.222+27A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3810576T= | CA2202971801 | CREBBP | c.975+27A= (n.975+27A=) c.921+27A= (n.921+27A=) c.222+27A= (n.222+27A=) | |
16 | g.3810576dup | CA7870547 | CREBBP | c.975+27dup (n.975+27dup) c.921+27dup (n.921+27dup) c.222+27dup (n.222+27dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810581C>A | CA620714701 | CREBBP | c.975+22G>T (n.975+22G>T) c.921+22G>T (n.921+22G>T) c.222+22G>T (n.222+22G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3810581C= | CA2202971802 | CREBBP | c.975+22G= (n.975+22G=) c.921+22G= (n.921+22G=) c.222+22G= (n.222+22G=) | |
16 | g.3810582T>C | CA2202971804 | CREBBP | c.975+21A>G (n.975+21A>G) c.921+21A>G (n.921+21A>G) c.222+21A>G (n.222+21A>G) | dbSNP |
16 | g.3810582T= | CA2202971803 | CREBBP | c.975+21A= (n.975+21A=) c.921+21A= (n.921+21A=) c.222+21A= (n.222+21A=) | |
16 | g.3810584A>T | CA2731708492 | CREBBP | c.975+19T>A (n.975+19T>A) c.921+19T>A (n.921+19T>A) c.222+19T>A (n.222+19T>A) | dbSNP |
16 | g.3810585G>A | CA2631429539 | CREBBP | c.975+18C>T (n.975+18C>T) c.921+18C>T (n.921+18C>T) c.222+18C>T (n.222+18C>T) | gnomAD v4 |
16 | g.3810586G>A | CA620714702 | CREBBP | c.975+17C>T (n.975+17C>T) c.921+17C>T (n.921+17C>T) c.222+17C>T (n.222+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3810586G= | CA2202971805 | CREBBP | c.975+17C= (n.975+17C=) c.921+17C= (n.921+17C=) c.222+17C= (n.222+17C=) | |
16 | g.3810586G>T | CA2631429540 | CREBBP | c.975+17C>A (n.975+17C>A) c.921+17C>A (n.921+17C>A) c.222+17C>A (n.222+17C>A) | gnomAD v4 |
16 | g.3810588C>T | CA2631429541 | CREBBP | c.975+15G>A (n.975+15G>A) c.921+15G>A (n.921+15G>A) c.222+15G>A (n.222+15G>A) | gnomAD v4 |
16 | g.3810589C= | CA2202971806 | CREBBP | c.975+14G= (n.975+14G=) c.921+14G= (n.921+14G=) c.222+14G= (n.222+14G=) | |
16 | g.3810589C>T | CA7870548 | CREBBP | c.975+14G>A (n.975+14G>A) c.921+14G>A (n.921+14G>A) c.222+14G>A (n.222+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810592G>A | CA620714703 | CREBBP | c.975+11C>T (n.975+11C>T) c.921+11C>T (n.921+11C>T) c.222+11C>T (n.222+11C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810592G>C | CA2575918626 | CREBBP | c.975+11C>G (n.975+11C>G) c.921+11C>G (n.921+11C>G) c.222+11C>G (n.222+11C>G) | gnomAD v4 |
16 | g.3810592G= | CA2202971807 | CREBBP | c.975+11C= (n.975+11C=) c.921+11C= (n.921+11C=) c.222+11C= (n.222+11C=) | |
16 | g.3810593G>A | CA2631429542 | CREBBP | c.975+10C>T (n.975+10C>T) c.921+10C>T (n.921+10C>T) c.222+10C>T (n.222+10C>T) | gnomAD v4 |
16 | g.3810594G>A | CA7870549 | CREBBP | c.975+9C>T (n.975+9C>T) c.921+9C>T (n.921+9C>T) c.222+9C>T (n.222+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810594G= | CA2202971808 | CREBBP | c.975+9C= (n.975+9C=) c.921+9C= (n.921+9C=) c.222+9C= (n.222+9C=) | |
16 | g.3810594G>T | CA7870550 | CREBBP | c.975+9C>A (n.975+9C>A) c.921+9C>A (n.921+9C>A) c.222+9C>A (n.222+9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810596A= | CA2202971809 | CREBBP | c.975+7T= (n.975+7T=) c.921+7T= (n.921+7T=) c.222+7T= (n.222+7T=) | |
16 | g.3810596A>G | CA720701103 | CREBBP | c.975+7T>C (n.975+7T>C) c.921+7T>C (n.921+7T>C) c.222+7T>C (n.222+7T>C) | dbSNP |
16 | g.3810597A= | CA2202971810 | CREBBP | c.975+6T= (n.975+6T=) c.921+6T= (n.921+6T=) c.222+6T= (n.222+6T=) | |
16 | g.3810597A>G | CA7870551 | CREBBP | c.975+6T>C (n.975+6T>C) c.921+6T>C (n.921+6T>C) c.222+6T>C (n.222+6T>C) | dbSNP ExAC gnomAD v2 |
16 | g.3810598del | CA2731708501 | CREBBP | c.975+5del (n.975+5del) c.921+5del (n.921+5del) c.222+5del (n.222+5del) | dbSNP |
16 | g.3810599T>A | CA2731708502 | CREBBP | c.975+4A>T (n.975+4A>T) c.921+4A>T (n.921+4A>T) c.222+4A>T (n.222+4A>T) | dbSNP |
16 | g.3810600T>C | CA7870552 | CREBBP | c.975+3A>G (n.975+3A>G) c.921+3A>G (n.921+3A>G) c.222+3A>G (n.222+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810600T= | CA2202971811 | CREBBP | c.975+3A= (n.975+3A=) c.921+3A= (n.921+3A=) c.222+3A= (n.222+3A=) | |
16 | g.3810601A>C | CA394565828 | CREBBP | c.975+2T>G (n.975+2T>G) c.921+2T>G (n.921+2T>G) c.222+2T>G (n.222+2T>G) | |
16 | g.3810601A>G | CA394565829 | CREBBP | c.975+2T>C (n.975+2T>C) c.921+2T>C (n.921+2T>C) c.222+2T>C (n.222+2T>C) | |
16 | g.3810601A>T | CA394565830 | CREBBP | c.975+2T>A (n.975+2T>A) c.921+2T>A (n.921+2T>A) c.222+2T>A (n.222+2T>A) | |
16 | g.3810601dup | CA2631429543 | CREBBP | c.975+2dup (n.975+2dup) c.921+2dup (n.921+2dup) c.222+2dup (n.222+2dup) | gnomAD v4 |
16 | g.3810602C>A | CA394565831 | CREBBP | c.975+1G>T (n.975+1G>T) c.921+1G>T (n.921+1G>T) c.222+1G>T (n.222+1G>T) | |
16 | g.3810602C>G | CA394565832 | CREBBP | c.975+1G>C (n.975+1G>C) c.921+1G>C (n.921+1G>C) c.222+1G>C (n.222+1G>C) | |
16 | g.3810602C>T | CA394565833 | CREBBP | c.975+1G>A (n.975+1G>A) c.921+1G>A (n.921+1G>A) c.222+1G>A (n.222+1G>A) | dbSNP |
16 | g.3810603C>A | CA394565834 | CREBBP | c.975G>T (p.Met325Ile) c.921G>T (p.Met307Ile) c.222G>T (p.Met74Ile) | |
16 | g.3810603C= | CA2202971812 | CREBBP | c.975G= (p.Met325=) c.921G= (p.Met307=) c.222G= (p.Met74=) | |
16 | g.3810603C>G | CA394565835 | CREBBP | c.975G>C (p.Met325Ile) c.921G>C (p.Met307Ile) c.222G>C (p.Met74Ile) | |
16 | g.3810603C>T | CA394565836 | CREBBP | c.975G>A (p.Met325Ile) c.921G>A (p.Met307Ile) c.222G>A (p.Met74Ile) | |
16 | g.3810604A= | CA2202971813 | CREBBP | c.974T= (p.Met325=) c.920T= (p.Met307=) c.221T= (p.Met74=) | |
16 | g.3810604A>C | CA394565837 | CREBBP | c.974T>G (p.Met325Arg) c.920T>G (p.Met307Arg) c.221T>G (p.Met74Arg) | |
16 | g.3810604A>G | CA277007724 | CREBBP | c.974T>C (p.Met325Thr) c.920T>C (p.Met307Thr) c.221T>C (p.Met74Thr) | dbSNP gnomAD v4 |
16 | g.3810604A>T | CA394565838 | CREBBP | c.974T>A (p.Met325Lys) c.920T>A (p.Met307Lys) c.221T>A (p.Met74Lys) | |
16 | g.3810604_3810611dup | CA915949054 | CREBBP | c.967_974dup (p.Met325IlefsTer32) c.913_920dup (p.Met307IlefsTer32) c.214_221dup (p.Met74IlefsTer32) | ClinVar dbSNP |
16 | g.3810605T>A | CA7870553 | CREBBP | c.973A>T (p.Met325Leu) c.919A>T (p.Met307Leu) c.220A>T (p.Met74Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.3810605T>C | CA394565840 | CREBBP | c.973A>G (p.Met325Val) c.919A>G (p.Met307Val) c.220A>G (p.Met74Val) | gnomAD v4 |
16 | g.3810605T>G | CA394565839 | CREBBP | c.973A>C (p.Met325Leu) c.919A>C (p.Met307Leu) c.220A>C (p.Met74Leu) | |
16 | g.3810605T= | CA2202971814 | CREBBP | c.973A= (p.Met325=) c.919A= (p.Met307=) c.220A= (p.Met74=) | |
16 | g.3810606A>C | CA394565841 | CREBBP | c.972T>G (p.Asn324Lys) c.918T>G (p.Asn306Lys) c.219T>G (p.Asn73Lys) | |
16 | g.3810606A>G | CA493277578 | CREBBP | c.972T>C (p.Asn324=) c.918T>C (p.Asn306=) c.219T>C (p.Asn73=) | |
16 | g.3810606A>T | CA394565842 | CREBBP | c.972T>A (p.Asn324Lys) c.918T>A (p.Asn306Lys) c.219T>A (p.Asn73Lys) | |
16 | g.3810607T>A | CA394565843 | CREBBP | c.971A>T (p.Asn324Ile) c.917A>T (p.Asn306Ile) c.218A>T (p.Asn73Ile) | |
16 | g.3810607T>C | CA394565844 | CREBBP | c.971A>G (p.Asn324Ser) c.917A>G (p.Asn306Ser) c.218A>G (p.Asn73Ser) | |
16 | g.3810607T>G | CA394565845 | CREBBP | c.971A>C (p.Asn324Thr) c.917A>C (p.Asn306Thr) c.218A>C (p.Asn73Thr) | |
16 | g.3810608T>A | CA394565846 | CREBBP | c.970A>T (p.Asn324Tyr) c.916A>T (p.Asn306Tyr) c.217A>T (p.Asn73Tyr) | |
16 | g.3810608T>C | CA394565847 | CREBBP | c.970A>G (p.Asn324Asp) c.916A>G (p.Asn306Asp) c.217A>G (p.Asn73Asp) | |
16 | g.3810608T>G | CA394565848 | CREBBP | c.970A>C (p.Asn324His) c.916A>C (p.Asn306His) c.217A>C (p.Asn73His) | |
16 | g.3810609T>A | CA493277581 | CREBBP | c.969A>T (p.Pro323=) c.915A>T (p.Pro305=) c.216A>T (p.Pro72=) | |
16 | g.3810609T>C | CA493277580 | CREBBP | c.969A>G (p.Pro323=) c.915A>G (p.Pro305=) c.216A>G (p.Pro72=) | gnomAD v4 |
16 | g.3810609T>G | CA493277579 | CREBBP | c.969A>C (p.Pro323=) c.915A>C (p.Pro305=) c.216A>C (p.Pro72=) | |
16 | g.3810610G>A | CA394565849 | CREBBP | c.968C>T (p.Pro323Leu) c.914C>T (p.Pro305Leu) c.215C>T (p.Pro72Leu) | |
16 | g.3810610G>C | CA394565850 | CREBBP | c.968C>G (p.Pro323Arg) c.914C>G (p.Pro305Arg) c.215C>G (p.Pro72Arg) | |
16 | g.3810610G>T | CA394565851 | CREBBP | c.968C>A (p.Pro323Gln) c.914C>A (p.Pro305Gln) c.215C>A (p.Pro72Gln) | |
16 | g.3810611G>A | CA7870554 | CREBBP | c.967C>T (p.Pro323Ser) c.913C>T (p.Pro305Ser) c.214C>T (p.Pro72Ser) | dbSNP ExAC gnomAD v2 |
16 | g.3810611G>C | CA394565853 | CREBBP | c.967C>G (p.Pro323Ala) c.913C>G (p.Pro305Ala) c.214C>G (p.Pro72Ala) | |
16 | g.3810611G= | CA2202971815 | CREBBP | c.967C= (p.Pro323=) c.913C= (p.Pro305=) c.214C= (p.Pro72=) | |
16 | g.3810611G>T | CA394565852 | CREBBP | c.967C>A (p.Pro323Thr) c.913C>A (p.Pro305Thr) c.214C>A (p.Pro72Thr) | |
16 | g.3810612C>A | CA493277582 | CREBBP | c.966G>T (p.Val322=) c.912G>T (p.Val304=) c.213G>T (p.Val71=) | |
16 | g.3810612C= | CA2202971816 | CREBBP | c.966G= (p.Val322=) c.912G= (p.Val304=) c.213G= (p.Val71=) | |
16 | g.3810612C>G | CA493277583 | CREBBP | c.966G>C (p.Val322=) c.912G>C (p.Val304=) c.213G>C (p.Val71=) | |
16 | g.3810612C>T | CA277007729 | CREBBP | c.966G>A (p.Val322=) c.912G>A (p.Val304=) c.213G>A (p.Val71=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3810613A>C | CA394565856 | CREBBP | c.965T>G (p.Val322Gly) c.911T>G (p.Val304Gly) c.212T>G (p.Val71Gly) | |
16 | g.3810613A>G | CA394565854 | CREBBP | c.965T>C (p.Val322Ala) c.911T>C (p.Val304Ala) c.212T>C (p.Val71Ala) | |
16 | g.3810613A>T | CA394565855 | CREBBP | c.965T>A (p.Val322Glu) c.911T>A (p.Val304Glu) c.212T>A (p.Val71Glu) | |
16 | g.3810614C>A | CA277007734 | CREBBP | c.964G>T (p.Val322Leu) c.910G>T (p.Val304Leu) c.211G>T (p.Val71Leu) | dbSNP |
16 | g.3810614C= | CA2202971817 | CREBBP | c.964G= (p.Val322=) c.910G= (p.Val304=) c.211G= (p.Val71=) | |
16 | g.3810614C>G | CA158190 | CREBBP | c.964G>C (p.Val322Leu) c.910G>C (p.Val304Leu) c.211G>C (p.Val71Leu) | ClinVar dbSNP |
16 | g.3810614C>T | CA277007739 | CREBBP | c.964G>A (p.Val322Met) c.910G>A (p.Val304Met) c.211G>A (p.Val71Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810615G>A | CA7870555 | CREBBP | c.963C>T (p.Asn321=) c.909C>T (p.Asn303=) c.210C>T (p.Asn70=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810615G>C | CA394565858 | CREBBP | c.963C>G (p.Asn321Lys) c.909C>G (p.Asn303Lys) c.210C>G (p.Asn70Lys) | |
16 | g.3810615G= | CA2202971818 | CREBBP | c.963C= (p.Asn321=) c.909C= (p.Asn303=) c.210C= (p.Asn70=) | |
16 | g.3810615G>T | CA394565857 | CREBBP | c.963C>A (p.Asn321Lys) c.909C>A (p.Asn303Lys) c.210C>A (p.Asn70Lys) | gnomAD v4 |
16 | g.3810616T>A | CA394565859 | CREBBP | c.962A>T (p.Asn321Ile) c.908A>T (p.Asn303Ile) c.209A>T (p.Asn70Ile) | |
16 | g.3810616T>C | CA7870556 | CREBBP | c.962A>G (p.Asn321Ser) c.908A>G (p.Asn303Ser) c.209A>G (p.Asn70Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810616T>G | CA394565860 | CREBBP | c.962A>C (p.Asn321Thr) c.908A>C (p.Asn303Thr) c.209A>C (p.Asn70Thr) | |
16 | g.3810616T= | CA2202971819 | CREBBP | c.962A= (p.Asn321=) c.908A= (p.Asn303=) c.209A= (p.Asn70=) | |
16 | g.3810617T>A | CA394565861 | CREBBP | c.961A>T (p.Asn321Tyr) c.907A>T (p.Asn303Tyr) c.208A>T (p.Asn70Tyr) | |
16 | g.3810617T>C | CA394565862 | CREBBP | c.961A>G (p.Asn321Asp) c.907A>G (p.Asn303Asp) c.208A>G (p.Asn70Asp) | |
16 | g.3810617T>G | CA394565863 | CREBBP | c.961A>C (p.Asn321His) c.907A>C (p.Asn303His) c.208A>C (p.Asn70His) | dbSNP |
16 | g.3810619_3810625del | CA2695222698 | CREBBP | c.955_961del (p.Val319ThrfsTer?) c.901_907del (p.Val301ThrfsTer?) c.202_208del (p.Val68ThrfsTer?) | |
16 | g.3810618G>A | CA277007748 | CREBBP | c.960C>T (p.Thr320=) c.906C>T (p.Thr302=) c.207C>T (p.Thr69=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3810618G>C | CA493277585 | CREBBP | c.960C>G (p.Thr320=) c.906C>G (p.Thr302=) c.207C>G (p.Thr69=) | |
16 | g.3810618G= | CA2202971820 | CREBBP | c.960C= (p.Thr320=) c.906C= (p.Thr302=) c.207C= (p.Thr69=) | |
16 | g.3810618G>T | CA493277584 | CREBBP | c.960C>A (p.Thr320=) c.906C>A (p.Thr302=) c.207C>A (p.Thr69=) | |
16 | g.3810619G>A | CA394565864 | CREBBP | c.959C>T (p.Thr320Ile) c.905C>T (p.Thr302Ile) c.206C>T (p.Thr69Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3810619G>C | CA394565866 | CREBBP | c.959C>G (p.Thr320Ser) c.905C>G (p.Thr302Ser) c.206C>G (p.Thr69Ser) | ClinVar gnomAD v4 |
16 | g.3810619G= | CA2202971821 | CREBBP | c.959C= (p.Thr320=) c.905C= (p.Thr302=) c.206C= (p.Thr69=) | |
16 | g.3810619G>T | CA394565865 | CREBBP | c.959C>A (p.Thr320Asn) c.905C>A (p.Thr302Asn) c.206C>A (p.Thr69Asn) | |
16 | g.3810620T>A | CA394565867 | CREBBP | c.958A>T (p.Thr320Ser) c.904A>T (p.Thr302Ser) c.205A>T (p.Thr69Ser) | |
16 | g.3810620T>C | CA394565868 | CREBBP | c.958A>G (p.Thr320Ala) c.904A>G (p.Thr302Ala) c.205A>G (p.Thr69Ala) | |
16 | g.3810620T>G | CA394565869 | CREBBP | c.958A>C (p.Thr320Pro) c.904A>C (p.Thr302Pro) c.205A>C (p.Thr69Pro) | |
16 | g.3810620_3810623delinsTGAC | CA2202971822 | CREBBP | c.955_958delinsGTCA (p.Val319=) c.901_904delinsGTCA (p.Val301=) c.202_205delinsGTCA (p.Val68=) | |
16 | g.3810621G>A | CA493277587 | CREBBP | c.957C>T (p.Val319=) c.903C>T (p.Val301=) c.204C>T (p.Val68=) | |
16 | g.3810621G>C | CA493277588 | CREBBP | c.957C>G (p.Val319=) c.903C>G (p.Val301=) c.204C>G (p.Val68=) | |
16 | g.3810621G>T | CA493277589 | CREBBP | c.957C>A (p.Val319=) c.903C>A (p.Val301=) c.204C>A (p.Val68=) | |
16 | g.3810621_3810623del | CA493277590 | CREBBP | c.955_957del (p.Val319del) c.901_903del (p.Val301del) c.202_204del (p.Val68del) | dbSNP gnomAD v4 |
16 | g.3810622A>C | CA394565870 | CREBBP | c.956T>G (p.Val319Gly) c.902T>G (p.Val301Gly) c.203T>G (p.Val68Gly) | |
16 | g.3810622A>G | CA394565871 | CREBBP | c.956T>C (p.Val319Ala) c.902T>C (p.Val301Ala) c.203T>C (p.Val68Ala) | |
16 | g.3810622A>T | CA394565872 | CREBBP | c.956T>A (p.Val319Asp) c.902T>A (p.Val301Asp) c.203T>A (p.Val68Asp) | |
16 | g.3810623C>A | CA394565873 | CREBBP | c.955G>T (p.Val319Phe) c.901G>T (p.Val301Phe) c.202G>T (p.Val68Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3810623C= | CA2202971823 | CREBBP | c.955G= (p.Val319=) c.901G= (p.Val301=) c.202G= (p.Val68=) | |
16 | g.3810623C>G | CA394565874 | CREBBP | c.955G>C (p.Val319Leu) c.901G>C (p.Val301Leu) c.202G>C (p.Val68Leu) | dbSNP |
16 | g.3810623C>T | CA394565875 | CREBBP | c.955G>A (p.Val319Ile) c.901G>A (p.Val301Ile) c.202G>A (p.Val68Ile) | ClinVar |
16 | g.3810624T>A | CA493277591 | CREBBP | c.954A>T (p.Ser318=) c.900A>T (p.Ser300=) c.201A>T (p.Ser67=) | |
16 | g.3810624T>C | CA493277592 | CREBBP | c.954A>G (p.Ser318=) c.900A>G (p.Ser300=) c.201A>G (p.Ser67=) | gnomAD v4 |
16 | g.3810624T>G | CA493277593 | CREBBP | c.954A>C (p.Ser318=) c.900A>C (p.Ser300=) c.201A>C (p.Ser67=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3810624T= | CA2202971824 | CREBBP | c.954A= (p.Ser318=) c.900A= (p.Ser300=) c.201A= (p.Ser67=) | |
16 | g.3810625G>A | CA394565876 | CREBBP | c.953C>T (p.Ser318Leu) c.899C>T (p.Ser300Leu) c.200C>T (p.Ser67Leu) | dbSNP |
16 | g.3810625G>C | CA394565877 | CREBBP | c.953C>G (p.Ser318Ter) c.899C>G (p.Ser300Ter) c.200C>G (p.Ser67Ter) | |
16 | g.3810625G= | CA2202971825 | CREBBP | c.953C= (p.Ser318=) c.899C= (p.Ser300=) c.200C= (p.Ser67=) | |
16 | g.3810625G>T | CA271443 | CREBBP | c.953C>A (p.Ser318Ter) c.899C>A (p.Ser300Ter) c.200C>A (p.Ser67Ter) | ClinVar dbSNP |
16 | g.3810626A= | CA2202971826 | CREBBP | c.952T= (p.Ser318=) c.898T= (p.Ser300=) c.199T= (p.Ser67=) | |
16 | g.3810626A>C | CA394565878 | CREBBP | c.952T>G (p.Ser318Ala) c.898T>G (p.Ser300Ala) c.199T>G (p.Ser67Ala) | |
16 | g.3810626A>G | CA394565879 | CREBBP | c.952T>C (p.Ser318Pro) c.898T>C (p.Ser300Pro) c.199T>C (p.Ser67Pro) | |
16 | g.3810626A>T | CA277007759 | CREBBP | c.952T>A (p.Ser318Thr) c.898T>A (p.Ser300Thr) c.199T>A (p.Ser67Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3810627A= | CA2202971827 | CREBBP | c.951T= (p.Thr317=) c.897T= (p.Thr299=) c.198T= (p.Thr66=) | |
16 | g.3810627A>C | CA7870557 | CREBBP | c.951T>G (p.Thr317=) c.897T>G (p.Thr299=) c.198T>G (p.Thr66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810627A>G | CA493277595 | CREBBP | c.951T>C (p.Thr317=) c.897T>C (p.Thr299=) c.198T>C (p.Thr66=) | |
16 | g.3810627A>T | CA493277594 | CREBBP | c.951T>A (p.Thr317=) c.897T>A (p.Thr299=) c.198T>A (p.Thr66=) | |
16 | g.3810628G>A | CA394565882 | CREBBP | c.950C>T (p.Thr317Ile) c.896C>T (p.Thr299Ile) c.197C>T (p.Thr66Ile) | dbSNP gnomAD v4 |
16 | g.3810628G>C | CA394565880 | CREBBP | c.950C>G (p.Thr317Ser) c.896C>G (p.Thr299Ser) c.197C>G (p.Thr66Ser) | |
16 | g.3810628G= | CA2202971828 | CREBBP | c.950C= (p.Thr317=) c.896C= (p.Thr299=) c.197C= (p.Thr66=) | |
16 | g.3810628G>T | CA394565881 | CREBBP | c.950C>A (p.Thr317Asn) c.896C>A (p.Thr299Asn) c.197C>A (p.Thr66Asn) | |
16 | g.3810629T>A | CA394565883 | CREBBP | c.949A>T (p.Thr317Ser) c.895A>T (p.Thr299Ser) c.196A>T (p.Thr66Ser) | |
16 | g.3810629T>C | CA394565884 | CREBBP | c.949A>G (p.Thr317Ala) c.895A>G (p.Thr299Ala) c.196A>G (p.Thr66Ala) | |
16 | g.3810629T>G | CA394565885 | CREBBP | c.949A>C (p.Thr317Pro) c.895A>C (p.Thr299Pro) c.196A>C (p.Thr66Pro) | |
16 | g.3810630A>C | CA394565886 | CREBBP | c.948T>G (p.Asn316Lys) c.894T>G (p.Asn298Lys) c.195T>G (p.Asn65Lys) | |
16 | g.3810630A>G | CA493277598 | CREBBP | c.948T>C (p.Asn316=) c.894T>C (p.Asn298=) c.195T>C (p.Asn65=) | |
16 | g.3810630A>T | CA394565887 | CREBBP | c.948T>A (p.Asn316Lys) c.894T>A (p.Asn298Lys) c.195T>A (p.Asn65Lys) | |
16 | g.3810631T>A | CA394565888 | CREBBP | c.947A>T (p.Asn316Ile) c.893A>T (p.Asn298Ile) c.194A>T (p.Asn65Ile) | |
16 | g.3810631T>C | CA394565889 | CREBBP | c.947A>G (p.Asn316Ser) c.893A>G (p.Asn298Ser) c.194A>G (p.Asn65Ser) | |
16 | g.3810631T>G | CA394565890 | CREBBP | c.947A>C (p.Asn316Thr) c.893A>C (p.Asn298Thr) c.194A>C (p.Asn65Thr) | |
16 | g.3810632T>A | CA394565891 | CREBBP | c.946A>T (p.Asn316Tyr) c.892A>T (p.Asn298Tyr) c.193A>T (p.Asn65Tyr) | |
16 | g.3810632T>C | CA394565892 | CREBBP | c.946A>G (p.Asn316Asp) c.892A>G (p.Asn298Asp) c.193A>G (p.Asn65Asp) | |
16 | g.3810632T>G | CA394565893 | CREBBP | c.946A>C (p.Asn316His) c.892A>C (p.Asn298His) c.193A>C (p.Asn65His) | |
16 | g.3810633C>A | CA394565894 | CREBBP | c.945G>T (p.Lys315Asn) c.891G>T (p.Lys297Asn) c.192G>T (p.Lys64Asn) | gnomAD v4 |
16 | g.3810633C= | CA2202971829 | CREBBP | c.945G= (p.Lys315=) c.891G= (p.Lys297=) c.192G= (p.Lys64=) | |
16 | g.3810633C>G | CA394565895 | CREBBP | c.945G>C (p.Lys315Asn) c.891G>C (p.Lys297Asn) c.192G>C (p.Lys64Asn) | |
16 | g.3810633C>T | CA7870558 | CREBBP | c.945G>A (p.Lys315=) c.891G>A (p.Lys297=) c.192G>A (p.Lys64=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810634T>A | CA394565896 | CREBBP | c.944A>T (p.Lys315Met) c.890A>T (p.Lys297Met) c.191A>T (p.Lys64Met) | |
16 | g.3810634T>C | CA7870559 | CREBBP | c.944A>G (p.Lys315Arg) c.890A>G (p.Lys297Arg) c.191A>G (p.Lys64Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810634T>G | CA394565897 | CREBBP | c.944A>C (p.Lys315Thr) c.890A>C (p.Lys297Thr) c.191A>C (p.Lys64Thr) | |
16 | g.3810634T= | CA2202971830 | CREBBP | c.944A= (p.Lys315=) c.890A= (p.Lys297=) c.191A= (p.Lys64=) | |
16 | g.3810635T>A | CA394565898 | CREBBP | c.943A>T (p.Lys315Ter) c.889A>T (p.Lys297Ter) c.190A>T (p.Lys64Ter) | |
16 | g.3810635T>C | CA394565899 | CREBBP | c.943A>G (p.Lys315Glu) c.889A>G (p.Lys297Glu) c.190A>G (p.Lys64Glu) | |
16 | g.3810635T>G | CA394565900 | CREBBP | c.943A>C (p.Lys315Gln) c.889A>C (p.Lys297Gln) c.190A>C (p.Lys64Gln) | |
16 | g.3810636del | CA2731708671 | CREBBP | c.942del (p.Lys315ArgfsTer?) c.888del (p.Lys297ArgfsTer?) c.189del (p.Lys64ArgfsTer?) | dbSNP |
16 | g.3810636G>A | CA493277599 | CREBBP | c.942C>T (p.Ile314=) c.888C>T (p.Ile296=) c.189C>T (p.Ile63=) | COSMIC |
16 | g.3810636G>C | CA7870560 | CREBBP | c.942C>G (p.Ile314Met) c.888C>G (p.Ile296Met) c.189C>G (p.Ile63Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810636G= | CA2202971831 | CREBBP | c.942C= (p.Ile314=) c.888C= (p.Ile296=) c.189C= (p.Ile63=) | |
16 | g.3810636G>T | CA493277600 | CREBBP | c.942C>A (p.Ile314=) c.888C>A (p.Ile296=) c.189C>A (p.Ile63=) | |
16 | g.3810637A= | CA2202971832 | CREBBP | c.941T= (p.Ile314=) c.887T= (p.Ile296=) c.188T= (p.Ile63=) | |
16 | g.3810637A>C | CA394565901 | CREBBP | c.941T>G (p.Ile314Ser) c.887T>G (p.Ile296Ser) c.188T>G (p.Ile63Ser) | |
16 | g.3810637A>G | CA7870561 | CREBBP | c.941T>C (p.Ile314Thr) c.887T>C (p.Ile296Thr) c.188T>C (p.Ile63Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810637A>T | CA394565902 | CREBBP | c.941T>A (p.Ile314Asn) c.887T>A (p.Ile296Asn) c.188T>A (p.Ile63Asn) | |
16 | g.3810638T>A | CA394565904 | CREBBP | c.940A>T (p.Ile314Phe) c.886A>T (p.Ile296Phe) c.187A>T (p.Ile63Phe) | gnomAD v4 |
16 | g.3810638T>C | CA394565905 | CREBBP | c.940A>G (p.Ile314Val) c.886A>G (p.Ile296Val) c.187A>G (p.Ile63Val) | |
16 | g.3810638T>G | CA394565903 | CREBBP | c.940A>C (p.Ile314Leu) c.886A>C (p.Ile296Leu) c.187A>C (p.Ile63Leu) | |
16 | g.3810639A= | CA2202971833 | CREBBP | c.939T= (p.Asp313=) c.885T= (p.Asp295=) c.186T= (p.Asp62=) | |
16 | g.3810639A>C | CA394565906 | CREBBP | c.939T>G (p.Asp313Glu) c.885T>G (p.Asp295Glu) c.186T>G (p.Asp62Glu) | gnomAD v4 |
16 | g.3810639A>G | CA148154 | CREBBP | c.939T>C (p.Asp313=) c.885T>C (p.Asp295=) c.186T>C (p.Asp62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810639A>T | CA394565907 | CREBBP | c.939T>A (p.Asp313Glu) c.885T>A (p.Asp295Glu) c.186T>A (p.Asp62Glu) | |
16 | g.3810640T>A | CA394565908 | CREBBP | c.938A>T (p.Asp313Val) c.884A>T (p.Asp295Val) c.185A>T (p.Asp62Val) | |
16 | g.3810640T>C | CA394565909 | CREBBP | c.938A>G (p.Asp313Gly) c.884A>G (p.Asp295Gly) c.185A>G (p.Asp62Gly) | |
16 | g.3810640T>G | CA394565910 | CREBBP | c.938A>C (p.Asp313Ala) c.884A>C (p.Asp295Ala) c.185A>C (p.Asp62Ala) | |
16 | g.3810641C>A | CA394565911 | CREBBP | c.937G>T (p.Asp313Tyr) c.883G>T (p.Asp295Tyr) c.184G>T (p.Asp62Tyr) | |
16 | g.3810641C>G | CA394565912 | CREBBP | c.937G>C (p.Asp313His) c.883G>C (p.Asp295His) c.184G>C (p.Asp62His) | |
16 | g.3810641C>T | CA394565913 | CREBBP | c.937G>A (p.Asp313Asn) c.883G>A (p.Asp295Asn) c.184G>A (p.Asp62Asn) | gnomAD v4 |
16 | g.3810642T>A | CA493277601 | CREBBP | c.936A>T (p.Thr312=) c.882A>T (p.Thr294=) c.183A>T (p.Thr61=) | |
16 | g.3810642T>C | CA493277602 | CREBBP | c.936A>G (p.Thr312=) c.882A>G (p.Thr294=) c.183A>G (p.Thr61=) | |
16 | g.3810642T>G | CA493277603 | CREBBP | c.936A>C (p.Thr312=) c.882A>C (p.Thr294=) c.183A>C (p.Thr61=) | |
16 | g.3810643G>A | CA394565914 | CREBBP | c.935C>T (p.Thr312Ile) c.881C>T (p.Thr294Ile) c.182C>T (p.Thr61Ile) | dbSNP gnomAD v4 |
16 | g.3810643G>C | CA394565915 | CREBBP | c.935C>G (p.Thr312Arg) c.881C>G (p.Thr294Arg) c.182C>G (p.Thr61Arg) | |
16 | g.3810643G= | CA2202971834 | CREBBP | c.935C= (p.Thr312=) c.881C= (p.Thr294=) c.182C= (p.Thr61=) | |
16 | g.3810643G>T | CA394565916 | CREBBP | c.935C>A (p.Thr312Lys) c.881C>A (p.Thr294Lys) c.182C>A (p.Thr61Lys) | |
16 | g.3810644T>A | CA394565918 | CREBBP | c.934A>T (p.Thr312Ser) c.880A>T (p.Thr294Ser) c.181A>T (p.Thr61Ser) | dbSNP |
16 | g.3810644T>C | CA7870562 | CREBBP | c.934A>G (p.Thr312Ala) c.880A>G (p.Thr294Ala) c.181A>G (p.Thr61Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810644T>G | CA394565917 | CREBBP | c.934A>C (p.Thr312Pro) c.880A>C (p.Thr294Pro) c.181A>C (p.Thr61Pro) | |
16 | g.3810644T= | CA2202971835 | CREBBP | c.934A= (p.Thr312=) c.880A= (p.Thr294=) c.181A= (p.Thr61=) | |
16 | g.3810645A= | CA2202971836 | CREBBP | c.933T= (p.Pro311=) c.879T= (p.Pro293=) c.180T= (p.Pro60=) | |
16 | g.3810645A>C | CA493277604 | CREBBP | c.933T>G (p.Pro311=) c.879T>G (p.Pro293=) c.180T>G (p.Pro60=) | |
16 | g.3810645A>G | CA277007815 | CREBBP | c.933T>C (p.Pro311=) c.879T>C (p.Pro293=) c.180T>C (p.Pro60=) | dbSNP |
16 | g.3810645A>T | CA493277605 | CREBBP | c.933T>A (p.Pro311=) c.879T>A (p.Pro293=) c.180T>A (p.Pro60=) | |
16 | g.3810646G>A | CA394565919 | CREBBP | c.932C>T (p.Pro311Leu) c.878C>T (p.Pro293Leu) c.179C>T (p.Pro60Leu) | |
16 | g.3810646G>C | CA394565920 | CREBBP | c.932C>G (p.Pro311Arg) c.878C>G (p.Pro293Arg) c.179C>G (p.Pro60Arg) | |
16 | g.3810646G>T | CA394565921 | CREBBP | c.932C>A (p.Pro311His) c.878C>A (p.Pro293His) c.179C>A (p.Pro60His) | |
16 | g.3810647G>A | CA394565922 | CREBBP | c.931C>T (p.Pro311Ser) c.877C>T (p.Pro293Ser) c.178C>T (p.Pro60Ser) | dbSNP COSMIC |
16 | g.3810647G>C | CA394565923 | CREBBP | c.931C>G (p.Pro311Ala) c.877C>G (p.Pro293Ala) c.178C>G (p.Pro60Ala) | |
16 | g.3810647G>T | CA394565924 | CREBBP | c.931C>A (p.Pro311Thr) c.877C>A (p.Pro293Thr) c.178C>A (p.Pro60Thr) | |
16 | g.3810648G>A | CA493277606 | CREBBP | c.930C>T (p.Phe310=) c.876C>T (p.Phe292=) c.177C>T (p.Phe59=) | gnomAD v4 |
16 | g.3810648G>C | CA394565925 | CREBBP | c.930C>G (p.Phe310Leu) c.876C>G (p.Phe292Leu) c.177C>G (p.Phe59Leu) | |
16 | g.3810648G>T | CA394565926 | CREBBP | c.930C>A (p.Phe310Leu) c.876C>A (p.Phe292Leu) c.177C>A (p.Phe59Leu) | |
16 | g.3810649A>C | CA394565927 | CREBBP | c.929T>G (p.Phe310Cys) c.875T>G (p.Phe292Cys) c.176T>G (p.Phe59Cys) | |
16 | g.3810649A>G | CA394565928 | CREBBP | c.929T>C (p.Phe310Ser) c.875T>C (p.Phe292Ser) c.176T>C (p.Phe59Ser) | |
16 | g.3810649A>T | CA394565929 | CREBBP | c.929T>A (p.Phe310Tyr) c.875T>A (p.Phe292Tyr) c.176T>A (p.Phe59Tyr) | |
16 | g.3810650A>C | CA394565930 | CREBBP | c.928T>G (p.Phe310Val) c.874T>G (p.Phe292Val) c.175T>G (p.Phe59Val) | |
16 | g.3810650A>G | CA394565931 | CREBBP | c.928T>C (p.Phe310Leu) c.874T>C (p.Phe292Leu) c.175T>C (p.Phe59Leu) | gnomAD v4 |
16 | g.3810650A>T | CA394565932 | CREBBP | c.928T>A (p.Phe310Ile) c.874T>A (p.Phe292Ile) c.175T>A (p.Phe59Ile) | |
16 | g.3810651G>A | CA7870564 | CREBBP | c.927C>T (p.Thr309=) c.873C>T (p.Thr291=) c.174C>T (p.Thr58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810651G>C | CA7870563 | CREBBP | c.927C>G (p.Thr309=) c.873C>G (p.Thr291=) c.174C>G (p.Thr58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810651G= | CA2202971837 | CREBBP | c.927C= (p.Thr309=) c.873C= (p.Thr291=) c.174C= (p.Thr58=) | |
16 | g.3810651G>T | CA493277607 | CREBBP | c.927C>A (p.Thr309=) c.873C>A (p.Thr291=) c.174C>A (p.Thr58=) | |
16 | g.3810652G>A | CA394565933 | CREBBP | c.926C>T (p.Thr309Ile) c.872C>T (p.Thr291Ile) c.173C>T (p.Thr58Ile) | ClinVar gnomAD v4 |
16 | g.3810652G>C | CA394565935 | CREBBP | c.926C>G (p.Thr309Ser) c.872C>G (p.Thr291Ser) c.173C>G (p.Thr58Ser) | dbSNP |
16 | g.3810652G>T | CA394565934 | CREBBP | c.926C>A (p.Thr309Asn) c.872C>A (p.Thr291Asn) c.173C>A (p.Thr58Asn) | |
16 | g.3810653T>A | CA394565936 | CREBBP | c.925A>T (p.Thr309Ser) c.871A>T (p.Thr291Ser) c.172A>T (p.Thr58Ser) | |
16 | g.3810653T>C | CA394565938 | CREBBP | c.925A>G (p.Thr309Ala) c.871A>G (p.Thr291Ala) c.172A>G (p.Thr58Ala) | |
16 | g.3810653T>G | CA394565937 | CREBBP | c.925A>C (p.Thr309Pro) c.871A>C (p.Thr291Pro) c.172A>C (p.Thr58Pro) | |
16 | g.3810654G>A | CA493277610 | CREBBP | c.924C>T (p.Pro308=) c.870C>T (p.Pro290=) c.171C>T (p.Pro57=) | |
16 | g.3810654G>C | CA493277608 | CREBBP | c.924C>G (p.Pro308=) c.870C>G (p.Pro290=) c.171C>G (p.Pro57=) | |
16 | g.3810654G>T | CA493277609 | CREBBP | c.924C>A (p.Pro308=) c.870C>A (p.Pro290=) c.171C>A (p.Pro57=) | |
16 | g.3810655G>A | CA394565939 | CREBBP | c.923C>T (p.Pro308Leu) c.869C>T (p.Pro290Leu) c.170C>T (p.Pro57Leu) | |
16 | g.3810655G>C | CA394565941 | CREBBP | c.923C>G (p.Pro308Arg) c.869C>G (p.Pro290Arg) c.170C>G (p.Pro57Arg) | |
16 | g.3810655G>T | CA394565940 | CREBBP | c.923C>A (p.Pro308His) c.869C>A (p.Pro290His) c.170C>A (p.Pro57His) | |
16 | g.3810656G>A | CA394565942 | CREBBP | c.922C>T (p.Pro308Ser) c.868C>T (p.Pro290Ser) c.169C>T (p.Pro57Ser) | dbSNP |
16 | g.3810656G>C | CA277007830 | CREBBP | c.922C>G (p.Pro308Ala) c.868C>G (p.Pro290Ala) c.169C>G (p.Pro57Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810656G= | CA2202971838 | CREBBP | c.922C= (p.Pro308=) c.868C= (p.Pro290=) c.169C= (p.Pro57=) | |
16 | g.3810656G>T | CA394565943 | CREBBP | c.922C>A (p.Pro308Thr) c.868C>A (p.Pro290Thr) c.169C>A (p.Pro57Thr) | |
16 | g.3810657C>A | CA394565944 | CREBBP | c.921G>T (p.Leu307Phe) c.867G>T (p.Leu289Phe) c.168G>T (p.Leu56Phe) | dbSNP |
16 | g.3810657C>G | CA394565945 | CREBBP | c.921G>C (p.Leu307Phe) c.867G>C (p.Leu289Phe) c.168G>C (p.Leu56Phe) | |
16 | g.3810657C>T | CA493277611 | CREBBP | c.921G>A (p.Leu307=) c.867G>A (p.Leu289=) c.168G>A (p.Leu56=) | gnomAD v4 |