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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3792011del | CA2731710603 | CREBBP | c.1304del (p.Asn435MetfsTer?) c.1216+1379del (n.1216+1379del) c.1250del (p.Asn417MetfsTer?) c.551del (p.Asn184MetfsTer?) | dbSNP |
| 16 | g.3792009T>A | CA394560562 | CREBBP | c.1302A>T (p.Lys434Asn) c.1216+1377A>T (n.1216+1377A>T) c.1248A>T (p.Lys416Asn) c.549A>T (p.Lys183Asn) | |
| 16 | g.3792009T>C | CA493277063 | CREBBP | c.1302A>G (p.Lys434=) c.1216+1377A>G (n.1216+1377A>G) c.1248A>G (p.Lys416=) c.549A>G (p.Lys183=) | |
| 16 | g.3792009T>G | CA394560564 | CREBBP | c.1302A>C (p.Lys434Asn) c.1216+1377A>C (n.1216+1377A>C) c.1248A>C (p.Lys416Asn) c.549A>C (p.Lys183Asn) | |
| 16 | g.3792010T>A | CA394560565 | CREBBP | c.1301A>T (p.Lys434Ile) c.1216+1376A>T (n.1216+1376A>T) c.1247A>T (p.Lys416Ile) c.548A>T (p.Lys183Ile) | |
| 16 | g.3792010T>C | CA394560567 | CREBBP | c.1301A>G (p.Lys434Arg) c.1216+1376A>G (n.1216+1376A>G) c.1247A>G (p.Lys416Arg) c.548A>G (p.Lys183Arg) | |
| 16 | g.3792010T>G | CA394560569 | CREBBP | c.1301A>C (p.Lys434Thr) c.1216+1376A>C (n.1216+1376A>C) c.1247A>C (p.Lys416Thr) c.548A>C (p.Lys183Thr) | |
| 16 | g.3792011T>A | CA394560571 | CREBBP | c.1300A>T (p.Lys434Ter) c.1216+1375A>T (n.1216+1375A>T) c.1246A>T (p.Lys416Ter) c.547A>T (p.Lys183Ter) | |
| 16 | g.3792011T>C | CA394560573 | CREBBP | c.1300A>G (p.Lys434Glu) c.1216+1375A>G (n.1216+1375A>G) c.1246A>G (p.Lys416Glu) c.547A>G (p.Lys183Glu) | |
| 16 | g.3792011T>G | CA394560575 | CREBBP | c.1300A>C (p.Lys434Gln) c.1216+1375A>C (n.1216+1375A>C) c.1246A>C (p.Lys416Gln) c.547A>C (p.Lys183Gln) | |
| 16 | g.3792012C>A | CA394560577 | CREBBP | c.1299G>T (p.Leu433Phe) c.1216+1374G>T (n.1216+1374G>T) c.1245G>T (p.Leu415Phe) c.546G>T (p.Leu182Phe) | |
| 16 | g.3792012C= | CA2202953638 | CREBBP | c.1299G= (p.Leu433=) c.1216+1374G= (n.1216+1374G=) c.1245G= (p.Leu415=) c.546G= (p.Leu182=) | |
| 16 | g.3792012C>G | CA394560579 | CREBBP | c.1299G>C (p.Leu433Phe) c.1216+1374G>C (n.1216+1374G>C) c.1245G>C (p.Leu415Phe) c.546G>C (p.Leu182Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3792012C>T | CA493277064 | CREBBP | c.1299G>A (p.Leu433=) c.1216+1374G>A (n.1216+1374G>A) c.1245G>A (p.Leu415=) c.546G>A (p.Leu182=) | |
| 16 | g.3792013A>C | CA394560583 | CREBBP | c.1298T>G (p.Leu433Trp) c.1216+1373T>G (n.1216+1373T>G) c.1244T>G (p.Leu415Trp) c.545T>G (p.Leu182Trp) | |
| 16 | g.3792013A>G | CA394560585 | CREBBP | c.1298T>C (p.Leu433Ser) c.1216+1373T>C (n.1216+1373T>C) c.1244T>C (p.Leu415Ser) c.545T>C (p.Leu182Ser) | |
| 16 | g.3792013A>T | CA394560581 | CREBBP | c.1298T>A (p.Leu433Ter) c.1216+1373T>A (n.1216+1373T>A) c.1244T>A (p.Leu415Ter) c.545T>A (p.Leu182Ter) | |
| 16 | g.3792014A>C | CA394560589 | CREBBP | c.1297T>G (p.Leu433Val) c.1216+1372T>G (n.1216+1372T>G) c.1243T>G (p.Leu415Val) c.544T>G (p.Leu182Val) | |
| 16 | g.3792014A>G | CA493277065 | CREBBP | c.1297T>C (p.Leu433=) c.1216+1372T>C (n.1216+1372T>C) c.1243T>C (p.Leu415=) c.544T>C (p.Leu182=) | |
| 16 | g.3792014A>T | CA394560587 | CREBBP | c.1297T>A (p.Leu433Met) c.1216+1372T>A (n.1216+1372T>A) c.1243T>A (p.Leu415Met) c.544T>A (p.Leu182Met) | |
| 16 | g.3792015A>C | CA493277066 | CREBBP | c.1296T>G (p.Pro432=) c.1216+1371T>G (n.1216+1371T>G) c.1242T>G (p.Pro414=) c.543T>G (p.Pro181=) | |
| 16 | g.3792015A>G | CA493277067 | CREBBP | c.1296T>C (p.Pro432=) c.1216+1371T>C (n.1216+1371T>C) c.1242T>C (p.Pro414=) c.543T>C (p.Pro181=) | |
| 16 | g.3792015A>T | CA493277068 | CREBBP | c.1296T>A (p.Pro432=) c.1216+1371T>A (n.1216+1371T>A) c.1242T>A (p.Pro414=) c.543T>A (p.Pro181=) | |
| 16 | g.3792016G>A | CA394560590 | CREBBP | c.1295C>T (p.Pro432Leu) c.1216+1370C>T (n.1216+1370C>T) c.1241C>T (p.Pro414Leu) c.542C>T (p.Pro181Leu) | |
| 16 | g.3792016G>C | CA394560592 | CREBBP | c.1295C>G (p.Pro432Arg) c.1216+1370C>G (n.1216+1370C>G) c.1241C>G (p.Pro414Arg) c.542C>G (p.Pro181Arg) | |
| 16 | g.3792016G>T | CA394560594 | CREBBP | c.1295C>A (p.Pro432His) c.1216+1370C>A (n.1216+1370C>A) c.1241C>A (p.Pro414His) c.542C>A (p.Pro181His) | |
| 16 | g.3792017G>A | CA394560596 | CREBBP | c.1294C>T (p.Pro432Ser) c.1216+1369C>T (n.1216+1369C>T) c.1240C>T (p.Pro414Ser) c.541C>T (p.Pro181Ser) | |
| 16 | g.3792017G>C | CA394560598 | CREBBP | c.1294C>G (p.Pro432Ala) c.1216+1369C>G (n.1216+1369C>G) c.1240C>G (p.Pro414Ala) c.541C>G (p.Pro181Ala) | |
| 16 | g.3792017G>T | CA394560600 | CREBBP | c.1294C>A (p.Pro432Thr) c.1216+1369C>A (n.1216+1369C>A) c.1240C>A (p.Pro414Thr) c.541C>A (p.Pro181Thr) | |
| 16 | g.3792018G>A | CA493277069 | CREBBP | c.1293C>T (p.Leu431=) c.1216+1368C>T (n.1216+1368C>T) c.1239C>T (p.Leu413=) c.540C>T (p.Leu180=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3792018G>C | CA493277070 | CREBBP | c.1293C>G (p.Leu431=) c.1216+1368C>G (n.1216+1368C>G) c.1239C>G (p.Leu413=) c.540C>G (p.Leu180=) | gnomAD v4 |
| 16 | g.3792018G= | CA2202953643 | CREBBP | c.1293C= (p.Leu431=) c.1216+1368C= (n.1216+1368C=) c.1239C= (p.Leu413=) c.540C= (p.Leu180=) | |
| 16 | g.3792018G>T | CA493277071 | CREBBP | c.1293C>A (p.Leu431=) c.1216+1368C>A (n.1216+1368C>A) c.1239C>A (p.Leu413=) c.540C>A (p.Leu180=) | |
| 16 | g.3792019A>C | CA394560602 | CREBBP | c.1292T>G (p.Leu431Arg) c.1216+1367T>G (n.1216+1367T>G) c.1238T>G (p.Leu413Arg) c.539T>G (p.Leu180Arg) | |
| 16 | g.3792019A>G | CA394560603 | CREBBP | c.1292T>C (p.Leu431Pro) c.1216+1367T>C (n.1216+1367T>C) c.1238T>C (p.Leu413Pro) c.539T>C (p.Leu180Pro) | |
| 16 | g.3792019A>T | CA394560605 | CREBBP | c.1292T>A (p.Leu431His) c.1216+1367T>A (n.1216+1367T>A) c.1238T>A (p.Leu413His) c.539T>A (p.Leu180His) | |
| 16 | g.3792020G>A | CA394560607 | CREBBP | c.1291C>T (p.Leu431Phe) c.1216+1366C>T (n.1216+1366C>T) c.1237C>T (p.Leu413Phe) c.538C>T (p.Leu180Phe) | |
| 16 | g.3792020G>C | CA394560609 | CREBBP | c.1291C>G (p.Leu431Val) c.1216+1366C>G (n.1216+1366C>G) c.1237C>G (p.Leu413Val) c.538C>G (p.Leu180Val) | |
| 16 | g.3792020G>T | CA394560611 | CREBBP | c.1291C>A (p.Leu431Ile) c.1216+1366C>A (n.1216+1366C>A) c.1237C>A (p.Leu413Ile) c.538C>A (p.Leu180Ile) | |
| 16 | g.3792021G>A | CA493277072 | CREBBP | c.1290C>T (p.Cys430=) c.1216+1365C>T (n.1216+1365C>T) c.1236C>T (p.Cys412=) c.537C>T (p.Cys179=) | |
| 16 | g.3792021G>C | CA394560613 | CREBBP | c.1290C>G (p.Cys430Trp) c.1216+1365C>G (n.1216+1365C>G) c.1236C>G (p.Cys412Trp) c.537C>G (p.Cys179Trp) | |
| 16 | g.3792021G>T | CA394560614 | CREBBP | c.1290C>A (p.Cys430Ter) c.1216+1365C>A (n.1216+1365C>A) c.1236C>A (p.Cys412Ter) c.537C>A (p.Cys179Ter) | |
| 16 | g.3792022C>A | CA394560617 | CREBBP | c.1289G>T (p.Cys430Phe) c.1216+1364G>T (n.1216+1364G>T) c.1235G>T (p.Cys412Phe) c.536G>T (p.Cys179Phe) | dbSNP |
| 16 | g.3792022C>G | CA394560619 | CREBBP | c.1289G>C (p.Cys430Ser) c.1216+1364G>C (n.1216+1364G>C) c.1235G>C (p.Cys412Ser) c.536G>C (p.Cys179Ser) | |
| 16 | g.3792022C>T | CA394560621 | CREBBP | c.1289G>A (p.Cys430Tyr) c.1216+1364G>A (n.1216+1364G>A) c.1235G>A (p.Cys412Tyr) c.536G>A (p.Cys179Tyr) | |
| 16 | g.3792023A>C | CA394560623 | CREBBP | c.1288T>G (p.Cys430Gly) c.1216+1363T>G (n.1216+1363T>G) c.1234T>G (p.Cys412Gly) c.535T>G (p.Cys179Gly) | |
| 16 | g.3792023A>G | CA394560625 | CREBBP | c.1288T>C (p.Cys430Arg) c.1216+1363T>C (n.1216+1363T>C) c.1234T>C (p.Cys412Arg) c.535T>C (p.Cys179Arg) | |
| 16 | g.3792023A>T | CA394560627 | CREBBP | c.1288T>A (p.Cys430Ser) c.1216+1363T>A (n.1216+1363T>A) c.1234T>A (p.Cys412Ser) c.535T>A (p.Cys179Ser) | |
| 16 | g.3792024A>C | CA493277073 | CREBBP | c.1287T>G (p.Val429=) c.1216+1362T>G (n.1216+1362T>G) c.1233T>G (p.Val411=) c.534T>G (p.Val178=) | |
| 16 | g.3792024A>G | CA493277075 | CREBBP | c.1287T>C (p.Val429=) c.1216+1362T>C (n.1216+1362T>C) c.1233T>C (p.Val411=) c.534T>C (p.Val178=) | |
| 16 | g.3792024A>T | CA493277074 | CREBBP | c.1287T>A (p.Val429=) c.1216+1362T>A (n.1216+1362T>A) c.1233T>A (p.Val411=) c.534T>A (p.Val178=) | |
| 16 | g.3792025A>C | CA394560630 | CREBBP | c.1286T>G (p.Val429Gly) c.1216+1361T>G (n.1216+1361T>G) c.1232T>G (p.Val411Gly) c.533T>G (p.Val178Gly) | |
| 16 | g.3792025A>G | CA394560632 | CREBBP | c.1286T>C (p.Val429Ala) c.1216+1361T>C (n.1216+1361T>C) c.1232T>C (p.Val411Ala) c.533T>C (p.Val178Ala) | |
| 16 | g.3792025A>T | CA394560634 | CREBBP | c.1286T>A (p.Val429Asp) c.1216+1361T>A (n.1216+1361T>A) c.1232T>A (p.Val411Asp) c.533T>A (p.Val178Asp) | |
| 16 | g.3792026C>A | CA394560636 | CREBBP | c.1285G>T (p.Val429Phe) c.1216+1360G>T (n.1216+1360G>T) c.1231G>T (p.Val411Phe) c.532G>T (p.Val178Phe) | |
| 16 | g.3792026C>G | CA394560638 | CREBBP | c.1285G>C (p.Val429Leu) c.1216+1360G>C (n.1216+1360G>C) c.1231G>C (p.Val411Leu) c.532G>C (p.Val178Leu) | |
| 16 | g.3792026C>T | CA394560640 | CREBBP | c.1285G>A (p.Val429Ile) c.1216+1360G>A (n.1216+1360G>A) c.1231G>A (p.Val411Ile) c.532G>A (p.Val178Ile) | gnomAD v4 |
| 16 | g.3792027A>C | CA493277076 | CREBBP | c.1284T>G (p.Pro428=) c.1216+1359T>G (n.1216+1359T>G) c.1230T>G (p.Pro410=) c.531T>G (p.Pro177=) | |
| 16 | g.3792027A>G | CA493277077 | CREBBP | c.1284T>C (p.Pro428=) c.1216+1359T>C (n.1216+1359T>C) c.1230T>C (p.Pro410=) c.531T>C (p.Pro177=) | |
| 16 | g.3792027A>T | CA493277078 | CREBBP | c.1284T>A (p.Pro428=) c.1216+1359T>A (n.1216+1359T>A) c.1230T>A (p.Pro410=) c.531T>A (p.Pro177=) | |
| 16 | g.3792028G>A | CA394560645 | CREBBP | c.1283C>T (p.Pro428Leu) c.1216+1358C>T (n.1216+1358C>T) c.1229C>T (p.Pro410Leu) c.530C>T (p.Pro177Leu) | |
| 16 | g.3792028G>C | CA394560646 | CREBBP | c.1283C>G (p.Pro428Arg) c.1216+1358C>G (n.1216+1358C>G) c.1229C>G (p.Pro410Arg) c.530C>G (p.Pro177Arg) | |
| 16 | g.3792028G>T | CA394560643 | CREBBP | c.1283C>A (p.Pro428His) c.1216+1358C>A (n.1216+1358C>A) c.1229C>A (p.Pro410His) c.530C>A (p.Pro177His) | |
| 16 | g.3792029G>A | CA394560649 | CREBBP | c.1282C>T (p.Pro428Ser) c.1216+1357C>T (n.1216+1357C>T) c.1228C>T (p.Pro410Ser) c.529C>T (p.Pro177Ser) | |
| 16 | g.3792029G>C | CA394560651 | CREBBP | c.1282C>G (p.Pro428Ala) c.1216+1357C>G (n.1216+1357C>G) c.1228C>G (p.Pro410Ala) c.529C>G (p.Pro177Ala) | |
| 16 | g.3792029G>T | CA394560653 | CREBBP | c.1282C>A (p.Pro428Thr) c.1216+1357C>A (n.1216+1357C>A) c.1228C>A (p.Pro410Thr) c.529C>A (p.Pro177Thr) | |
| 16 | g.3792029_3792031delinsGAC | CA2202953647 | CREBBP | c.1280_1282delinsGTC (p.Cys427=) c.1216+1355_1216+1357delinsGTC (n.1216+1355_1216+1357delinsGTC) c.1226_1228delinsGTC (p.Cys409=) c.527_529delinsGTC (p.Cys176=) | |
| 16 | g.3792030A>C | CA394560654 | CREBBP | c.1281T>G (p.Cys427Trp) c.1216+1356T>G (n.1216+1356T>G) c.1227T>G (p.Cys409Trp) c.528T>G (p.Cys176Trp) | |
| 16 | g.3792030A>G | CA493277079 | CREBBP | c.1281T>C (p.Cys427=) c.1216+1356T>C (n.1216+1356T>C) c.1227T>C (p.Cys409=) c.528T>C (p.Cys176=) | |
| 16 | g.3792030A>T | CA394560656 | CREBBP | c.1281T>A (p.Cys427Ter) c.1216+1356T>A (n.1216+1356T>A) c.1227T>A (p.Cys409Ter) c.528T>A (p.Cys176Ter) | |
| 16 | g.3792031_3792032del | CA913190686 | CREBBP | c.1280_1281del (p.Cys427SerfsTer11) c.1216+1355_1216+1356del (n.1216+1355_1216+1356del) c.1226_1227del (p.Cys409SerfsTer11) c.527_528del (p.Cys176SerfsTer11) | ClinVar dbSNP |
| 16 | g.3792031C>A | CA394560658 | CREBBP | c.1280G>T (p.Cys427Phe) c.1216+1355G>T (n.1216+1355G>T) c.1226G>T (p.Cys409Phe) c.527G>T (p.Cys176Phe) | |
| 16 | g.3792031C= | CA2202953659 | CREBBP | c.1280G= (p.Cys427=) c.1216+1355G= (n.1216+1355G=) c.1226G= (p.Cys409=) c.527G= (p.Cys176=) | |
| 16 | g.3792031C>G | CA394560660 | CREBBP | c.1280G>C (p.Cys427Ser) c.1216+1355G>C (n.1216+1355G>C) c.1226G>C (p.Cys409Ser) c.527G>C (p.Cys176Ser) | |
| 16 | g.3792031C>T | CA394560662 | CREBBP | c.1280G>A (p.Cys427Tyr) c.1216+1355G>A (n.1216+1355G>A) c.1226G>A (p.Cys409Tyr) c.527G>A (p.Cys176Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3792032A>C | CA394560664 | CREBBP | c.1279T>G (p.Cys427Gly) c.1216+1354T>G (n.1216+1354T>G) c.1225T>G (p.Cys409Gly) c.526T>G (p.Cys176Gly) | |
| 16 | g.3792032A>G | CA394560666 | CREBBP | c.1279T>C (p.Cys427Arg) c.1216+1354T>C (n.1216+1354T>C) c.1225T>C (p.Cys409Arg) c.526T>C (p.Cys176Arg) | |
| 16 | g.3792032A>T | CA394560667 | CREBBP | c.1279T>A (p.Cys427Ser) c.1216+1354T>A (n.1216+1354T>A) c.1225T>A (p.Cys409Ser) c.526T>A (p.Cys176Ser) | |
| 16 | g.3792033G>A | CA493277080 | CREBBP | c.1278C>T (p.Asp426=) c.1216+1353C>T (n.1216+1353C>T) c.1224C>T (p.Asp408=) c.525C>T (p.Asp175=) | dbSNP |
| 16 | g.3792033G>C | CA394560670 | CREBBP | c.1278C>G (p.Asp426Glu) c.1216+1353C>G (n.1216+1353C>G) c.1224C>G (p.Asp408Glu) c.525C>G (p.Asp175Glu) | dbSNP |
| 16 | g.3792033G>T | CA394560671 | CREBBP | c.1278C>A (p.Asp426Glu) c.1216+1353C>A (n.1216+1353C>A) c.1224C>A (p.Asp408Glu) c.525C>A (p.Asp175Glu) | |
| 16 | g.3792034_3792035insAATGT | CA2538872572 | CREBBP | c.1278_1279insATTAC (p.Cys427IlefsTer9) c.1216+1353_1216+1354insATTAC (n.1216+1353_1216+1354insATTAC) c.1224_1225insATTAC (p.Cys409IlefsTer9) c.525_526insATTAC (p.Cys176IlefsTer9) | |
| 16 | g.3792034T>A | CA394560675 | CREBBP | c.1277A>T (p.Asp426Val) c.1216+1352A>T (n.1216+1352A>T) c.1223A>T (p.Asp408Val) c.524A>T (p.Asp175Val) | |
| 16 | g.3792034T>C | CA394560677 | CREBBP | c.1277A>G (p.Asp426Gly) c.1216+1352A>G (n.1216+1352A>G) c.1223A>G (p.Asp408Gly) c.524A>G (p.Asp175Gly) | |
| 16 | g.3792034T>G | CA394560673 | CREBBP | c.1277A>C (p.Asp426Ala) c.1216+1352A>C (n.1216+1352A>C) c.1223A>C (p.Asp408Ala) c.524A>C (p.Asp175Ala) | |
| 16 | g.3792035C>A | CA394560679 | CREBBP | c.1276G>T (p.Asp426Tyr) c.1216+1351G>T (n.1216+1351G>T) c.1222G>T (p.Asp408Tyr) c.523G>T (p.Asp175Tyr) | |
| 16 | g.3792035C>G | CA394560681 | CREBBP | c.1276G>C (p.Asp426His) c.1216+1351G>C (n.1216+1351G>C) c.1222G>C (p.Asp408His) c.523G>C (p.Asp175His) | |
| 16 | g.3792035C>T | CA394560683 | CREBBP | c.1276G>A (p.Asp426Asn) c.1216+1351G>A (n.1216+1351G>A) c.1222G>A (p.Asp408Asn) c.523G>A (p.Asp175Asn) | |
| 16 | g.3792036A= | CA2202953665 | CREBBP | c.1275T= (p.His425=) c.1216+1350T= (n.1216+1350T=) c.1221T= (p.His407=) c.522T= (p.His174=) | |
| 16 | g.3792036A>C | CA394560686 | CREBBP | c.1275T>G (p.His425Gln) c.1216+1350T>G (n.1216+1350T>G) c.1221T>G (p.His407Gln) c.522T>G (p.His174Gln) | |
| 16 | g.3792036A>G | CA246083 | CREBBP | c.1275T>C (p.His425=) c.1216+1350T>C (n.1216+1350T>C) c.1221T>C (p.His407=) c.522T>C (p.His174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3792036A>T | CA394560688 | CREBBP | c.1275T>A (p.His425Gln) c.1216+1350T>A (n.1216+1350T>A) c.1221T>A (p.His407Gln) c.522T>A (p.His174Gln) | |
| 16 | g.3792037T>A | CA394560694 | CREBBP | c.1274A>T (p.His425Leu) c.1216+1349A>T (n.1216+1349A>T) c.1220A>T (p.His407Leu) c.521A>T (p.His174Leu) | |
| 16 | g.3792037T>C | CA7870487 | CREBBP | c.1274A>G (p.His425Arg) c.1216+1349A>G (n.1216+1349A>G) c.1220A>G (p.His407Arg) c.521A>G (p.His174Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3792037T>G | CA394560691 | CREBBP | c.1274A>C (p.His425Pro) c.1216+1349A>C (n.1216+1349A>C) c.1220A>C (p.His407Pro) c.521A>C (p.His174Pro) | |
| 16 | g.3792037T= | CA2202953669 | CREBBP | c.1274A= (p.His425=) c.1216+1349A= (n.1216+1349A=) c.1220A= (p.His407=) c.521A= (p.His174=) | |
| 16 | g.3792038G>A | CA394560696 | CREBBP | c.1273C>T (p.His425Tyr) c.1216+1348C>T (n.1216+1348C>T) c.1219C>T (p.His407Tyr) c.520C>T (p.His174Tyr) | dbSNP |
| 16 | g.3792038G>C | CA394560698 | CREBBP | c.1273C>G (p.His425Asp) c.1216+1348C>G (n.1216+1348C>G) c.1219C>G (p.His407Asp) c.520C>G (p.His174Asp) | |
| 16 | g.3792038G>T | CA394560700 | CREBBP | c.1273C>A (p.His425Asn) c.1216+1348C>A (n.1216+1348C>A) c.1219C>A (p.His407Asn) c.520C>A (p.His174Asn) | |
| 16 | g.3792039T>A | CA493277081 | CREBBP | c.1272A>T (p.Arg424=) c.1216+1347A>T (n.1216+1347A>T) c.1218A>T (p.Arg406=) c.519A>T (p.Arg173=) | |
| 16 | g.3792039T>C | CA493277082 | CREBBP | c.1272A>G (p.Arg424=) c.1216+1347A>G (n.1216+1347A>G) c.1218A>G (p.Arg406=) c.519A>G (p.Arg173=) | |
| 16 | g.3792039T>G | CA493277083 | CREBBP | c.1272A>C (p.Arg424=) c.1216+1347A>C (n.1216+1347A>C) c.1218A>C (p.Arg406=) c.519A>C (p.Arg173=) | |
| 16 | g.3792040C>A | CA394560701 | CREBBP | c.1271G>T (p.Arg424Leu) c.1216+1346G>T (n.1216+1346G>T) c.1217G>T (p.Arg406Leu) c.518G>T (p.Arg173Leu) | |
| 16 | g.3792040C>G | CA394560702 | CREBBP | c.1271G>C (p.Arg424Pro) c.1216+1346G>C (n.1216+1346G>C) c.1217G>C (p.Arg406Pro) c.518G>C (p.Arg173Pro) | |
| 16 | g.3792040C>T | CA394560705 | CREBBP | c.1271G>A (p.Arg424Gln) c.1216+1346G>A (n.1216+1346G>A) c.1217G>A (p.Arg406Gln) c.518G>A (p.Arg173Gln) | dbSNP gnomAD v4 |
| 16 | g.3792041G>A | CA271362 | CREBBP | c.1270C>T (p.Arg424Ter) c.1216+1345C>T (n.1216+1345C>T) c.1216C>T (p.Arg406Ter) c.517C>T (p.Arg173Ter) | ClinVar dbSNP |
| 16 | g.3792041G>C | CA394560709 | CREBBP | c.1270C>G (p.Arg424Gly) c.1216+1345C>G (n.1216+1345C>G) c.1216C>G (p.Arg406Gly) c.517C>G (p.Arg173Gly) | |
| 16 | g.3792041G= | CA2202953675 | CREBBP | c.1270C= (p.Arg424=) c.1216+1345C= (n.1216+1345C=) c.1216C= (p.Arg406=) c.517C= (p.Arg173=) | |
| 16 | g.3792041G>T | CA493277084 | CREBBP | c.1270C>A (p.Arg424=) c.1216+1345C>A (n.1216+1345C>A) c.1216C>A (p.Arg406=) c.517C>A (p.Arg173=) | |
| 16 | g.3792042T>A | CA276985189 | CREBBP | c.1269A>T (p.Thr423=) c.1216+1344A>T (n.1216+1344A>T) c.1215A>T (p.Thr405=) c.516A>T (p.Thr172=) | dbSNP gnomAD v4 |
| 16 | g.3792042T>C | CA493277085 | CREBBP | c.1269A>G (p.Thr423=) c.1216+1344A>G (n.1216+1344A>G) c.1215A>G (p.Thr405=) c.516A>G (p.Thr172=) | gnomAD v4 |
| 16 | g.3792042T>G | CA493277086 | CREBBP | c.1269A>C (p.Thr423=) c.1216+1344A>C (n.1216+1344A>C) c.1215A>C (p.Thr405=) c.516A>C (p.Thr172=) | |
| 16 | g.3792042T= | CA2202953679 | CREBBP | c.1269A= (p.Thr423=) c.1216+1344A= (n.1216+1344A=) c.1215A= (p.Thr405=) c.516A= (p.Thr172=) | |
| 16 | g.3792043G>A | CA394560711 | CREBBP | c.1268C>T (p.Thr423Ile) c.1216+1343C>T (n.1216+1343C>T) c.1214C>T (p.Thr405Ile) c.515C>T (p.Thr172Ile) | dbSNP |
| 16 | g.3792043G>C | CA394560715 | CREBBP | c.1268C>G (p.Thr423Arg) c.1216+1343C>G (n.1216+1343C>G) c.1214C>G (p.Thr405Arg) c.515C>G (p.Thr172Arg) | |
| 16 | g.3792043G= | CA2202953683 | CREBBP | c.1268C= (p.Thr423=) c.1216+1343C= (n.1216+1343C=) c.1214C= (p.Thr405=) c.515C= (p.Thr172=) | |
| 16 | g.3792043G>T | CA394560713 | CREBBP | c.1268C>A (p.Thr423Lys) c.1216+1343C>A (n.1216+1343C>A) c.1214C>A (p.Thr405Lys) c.515C>A (p.Thr172Lys) | |
| 16 | g.3792044T>A | CA394560718 | CREBBP | c.1267A>T (p.Thr423Ser) c.1216+1342A>T (n.1216+1342A>T) c.1213A>T (p.Thr405Ser) c.514A>T (p.Thr172Ser) | |
| 16 | g.3792044T>C | CA394560723 | CREBBP | c.1267A>G (p.Thr423Ala) c.1216+1342A>G (n.1216+1342A>G) c.1213A>G (p.Thr405Ala) c.514A>G (p.Thr172Ala) | dbSNP |
| 16 | g.3792044T>G | CA394560721 | CREBBP | c.1267A>C (p.Thr423Pro) c.1216+1342A>C (n.1216+1342A>C) c.1213A>C (p.Thr405Pro) c.514A>C (p.Thr172Pro) | |
| 16 | g.3792044T= | CA2202953685 | CREBBP | c.1267A= (p.Thr423=) c.1216+1342A= (n.1216+1342A=) c.1213A= (p.Thr405=) c.514A= (p.Thr172=) | |
| 16 | g.3792045G>A | CA493277087 | CREBBP | c.1266C>T (p.Cys422=) c.1216+1341C>T (n.1216+1341C>T) c.1212C>T (p.Cys404=) c.513C>T (p.Cys171=) | |
| 16 | g.3792045G>C | CA394560725 | CREBBP | c.1266C>G (p.Cys422Trp) c.1216+1341C>G (n.1216+1341C>G) c.1212C>G (p.Cys404Trp) c.513C>G (p.Cys171Trp) | |
| 16 | g.3792045G>T | CA394560727 | CREBBP | c.1266C>A (p.Cys422Ter) c.1216+1341C>A (n.1216+1341C>A) c.1212C>A (p.Cys404Ter) c.513C>A (p.Cys171Ter) | |
| 16 | g.3792046C>A | CA394560729 | CREBBP | c.1265G>T (p.Cys422Phe) c.1216+1340G>T (n.1216+1340G>T) c.1211G>T (p.Cys404Phe) c.512G>T (p.Cys171Phe) | |
| 16 | g.3792046C>G | CA394560731 | CREBBP | c.1265G>C (p.Cys422Ser) c.1216+1340G>C (n.1216+1340G>C) c.1211G>C (p.Cys404Ser) c.512G>C (p.Cys171Ser) | ClinVar |
| 16 | g.3792046C>T | CA394560733 | CREBBP | c.1265G>A (p.Cys422Tyr) c.1216+1340G>A (n.1216+1340G>A) c.1211G>A (p.Cys404Tyr) c.512G>A (p.Cys171Tyr) | |
| 16 | g.3792047A>C | CA394560734 | CREBBP | c.1264T>G (p.Cys422Gly) c.1216+1339T>G (n.1216+1339T>G) c.1210T>G (p.Cys404Gly) c.511T>G (p.Cys171Gly) | |
| 16 | g.3792047A>G | CA394560736 | CREBBP | c.1264T>C (p.Cys422Arg) c.1216+1339T>C (n.1216+1339T>C) c.1210T>C (p.Cys404Arg) c.511T>C (p.Cys171Arg) | |
| 16 | g.3792047A>T | CA394560738 | CREBBP | c.1264T>A (p.Cys422Ser) c.1216+1339T>A (n.1216+1339T>A) c.1210T>A (p.Cys404Ser) c.511T>A (p.Cys171Ser) | |
| 16 | g.3792048G>A | CA493277088 | CREBBP | c.1263C>T (p.Asn421=) c.1216+1338C>T (n.1216+1338C>T) c.1209C>T (p.Asn403=) c.510C>T (p.Asn170=) | dbSNP |
| 16 | g.3792048G>C | CA394560740 | CREBBP | c.1263C>G (p.Asn421Lys) c.1216+1338C>G (n.1216+1338C>G) c.1209C>G (p.Asn403Lys) c.510C>G (p.Asn170Lys) | |
| 16 | g.3792048G>T | CA394560741 | CREBBP | c.1263C>A (p.Asn421Lys) c.1216+1338C>A (n.1216+1338C>A) c.1209C>A (p.Asn403Lys) c.510C>A (p.Asn170Lys) | |
| 16 | g.3792049T>A | CA394560747 | CREBBP | c.1262A>T (p.Asn421Ile) c.1216+1337A>T (n.1216+1337A>T) c.1208A>T (p.Asn403Ile) c.509A>T (p.Asn170Ile) | |
| 16 | g.3792049T>C | CA394560745 | CREBBP | c.1262A>G (p.Asn421Ser) c.1216+1337A>G (n.1216+1337A>G) c.1208A>G (p.Asn403Ser) c.509A>G (p.Asn170Ser) | |
| 16 | g.3792049T>G | CA394560743 | CREBBP | c.1262A>C (p.Asn421Thr) c.1216+1337A>C (n.1216+1337A>C) c.1208A>C (p.Asn403Thr) c.509A>C (p.Asn170Thr) | |
| 16 | g.3792050T>A | CA394560749 | CREBBP | c.1261A>T (p.Asn421Tyr) c.1216+1336A>T (n.1216+1336A>T) c.1207A>T (p.Asn403Tyr) c.508A>T (p.Asn170Tyr) | |
| 16 | g.3792050T>C | CA394560751 | CREBBP | c.1261A>G (p.Asn421Asp) c.1216+1336A>G (n.1216+1336A>G) c.1207A>G (p.Asn403Asp) c.508A>G (p.Asn170Asp) | |
| 16 | g.3792050T>G | CA394560753 | CREBBP | c.1261A>C (p.Asn421His) c.1216+1336A>C (n.1216+1336A>C) c.1207A>C (p.Asn403His) c.508A>C (p.Asn170His) | |
| 16 | g.3792051C>A | CA394560755 | CREBBP | c.1260G>T (p.Lys420Asn) c.1216+1335G>T (n.1216+1335G>T) c.1206G>T (p.Lys402Asn) c.507G>T (p.Lys169Asn) | |
| 16 | g.3792051C>G | CA394560757 | CREBBP | c.1260G>C (p.Lys420Asn) c.1216+1335G>C (n.1216+1335G>C) c.1206G>C (p.Lys402Asn) c.507G>C (p.Lys169Asn) | ClinVar |
| 16 | g.3792051C>T | CA493277091 | CREBBP | c.1260G>A (p.Lys420=) c.1216+1335G>A (n.1216+1335G>A) c.1206G>A (p.Lys402=) c.507G>A (p.Lys169=) | |
| 16 | g.3792052T>A | CA394560760 | CREBBP | c.1259A>T (p.Lys420Met) c.1216+1334A>T (n.1216+1334A>T) c.1205A>T (p.Lys402Met) c.506A>T (p.Lys169Met) | |
| 16 | g.3792052T>C | CA394560762 | CREBBP | c.1259A>G (p.Lys420Arg) c.1216+1334A>G (n.1216+1334A>G) c.1205A>G (p.Lys402Arg) c.506A>G (p.Lys169Arg) | |
| 16 | g.3792052T>G | CA394560763 | CREBBP | c.1259A>C (p.Lys420Thr) c.1216+1334A>C (n.1216+1334A>C) c.1205A>C (p.Lys402Thr) c.506A>C (p.Lys169Thr) | |
| 16 | g.3792053T>A | CA394560765 | CREBBP | c.1258A>T (p.Lys420Ter) c.1216+1333A>T (n.1216+1333A>T) c.1204A>T (p.Lys402Ter) c.505A>T (p.Lys169Ter) | dbSNP COSMIC |
| 16 | g.3792053T>C | CA394560767 | CREBBP | c.1258A>G (p.Lys420Glu) c.1216+1333A>G (n.1216+1333A>G) c.1204A>G (p.Lys402Glu) c.505A>G (p.Lys169Glu) | |
| 16 | g.3792053T>G | CA394560770 | CREBBP | c.1258A>C (p.Lys420Gln) c.1216+1333A>C (n.1216+1333A>C) c.1204A>C (p.Lys402Gln) c.505A>C (p.Lys169Gln) | gnomAD v4 |
| 16 | g.3792054C>A | CA394560773 | CREBBP | c.1257G>T (p.Trp419Cys) c.1216+1332G>T (n.1216+1332G>T) c.1203G>T (p.Trp401Cys) c.504G>T (p.Trp168Cys) | |
| 16 | g.3792054C= | CA2202953688 | CREBBP | c.1257G= (p.Trp419=) c.1216+1332G= (n.1216+1332G=) c.1203G= (p.Trp401=) c.504G= (p.Trp168=) | |
| 16 | g.3792054C>G | CA394560775 | CREBBP | c.1257G>C (p.Trp419Cys) c.1216+1332G>C (n.1216+1332G>C) c.1203G>C (p.Trp401Cys) c.504G>C (p.Trp168Cys) | dbSNP |
| 16 | g.3792054C>T | CA271360 | CREBBP | c.1257G>A (p.Trp419Ter) c.1216+1332G>A (n.1216+1332G>A) c.1203G>A (p.Trp401Ter) c.504G>A (p.Trp168Ter) | ClinVar dbSNP |
| 16 | g.3792055del | CA2695222693 | CREBBP | c.1257del (p.Trp419Ter) c.1216+1332del (n.1216+1332del) c.1203del (p.Trp401Ter) c.504del (p.Trp168Ter) | |
| 16 | g.3792055C>A | CA394560776 | CREBBP | c.1256G>T (p.Trp419Leu) c.1216+1331G>T (n.1216+1331G>T) c.1202G>T (p.Trp401Leu) c.503G>T (p.Trp168Leu) | |
| 16 | g.3792055C>G | CA394560778 | CREBBP | c.1256G>C (p.Trp419Ser) c.1216+1331G>C (n.1216+1331G>C) c.1202G>C (p.Trp401Ser) c.503G>C (p.Trp168Ser) | |
| 16 | g.3792055C>T | CA394560779 | CREBBP | c.1256G>A (p.Trp419Ter) c.1216+1331G>A (n.1216+1331G>A) c.1202G>A (p.Trp401Ter) c.503G>A (p.Trp168Ter) | gnomAD v4 COSMIC |
| 16 | g.3792056A>C | CA394560782 | CREBBP | c.1255T>G (p.Trp419Gly) c.1216+1330T>G (n.1216+1330T>G) c.1201T>G (p.Trp401Gly) c.502T>G (p.Trp168Gly) | |
| 16 | g.3792056A>G | CA394560784 | CREBBP | c.1255T>C (p.Trp419Arg) c.1216+1330T>C (n.1216+1330T>C) c.1201T>C (p.Trp401Arg) c.502T>C (p.Trp168Arg) | |
| 16 | g.3792056A>T | CA394560785 | CREBBP | c.1255T>A (p.Trp419Arg) c.1216+1330T>A (n.1216+1330T>A) c.1201T>A (p.Trp401Arg) c.502T>A (p.Trp168Arg) | |
| 16 | g.3792057A>C | CA394560788 | CREBBP | c.1254T>G (p.His418Gln) c.1216+1329T>G (n.1216+1329T>G) c.1200T>G (p.His400Gln) c.501T>G (p.His167Gln) | |
| 16 | g.3792057A>G | CA493277093 | CREBBP | c.1254T>C (p.His418=) c.1216+1329T>C (n.1216+1329T>C) c.1200T>C (p.His400=) c.501T>C (p.His167=) | |
| 16 | g.3792057A>T | CA394560789 | CREBBP | c.1254T>A (p.His418Gln) c.1216+1329T>A (n.1216+1329T>A) c.1200T>A (p.His400Gln) c.501T>A (p.His167Gln) | |
| 16 | g.3792058T>A | CA394560792 | CREBBP | c.1253A>T (p.His418Leu) c.1216+1328A>T (n.1216+1328A>T) c.1199A>T (p.His400Leu) c.500A>T (p.His167Leu) | |
| 16 | g.3792058T>C | CA394560794 | CREBBP | c.1253A>G (p.His418Arg) c.1216+1328A>G (n.1216+1328A>G) c.1199A>G (p.His400Arg) c.500A>G (p.His167Arg) | |
| 16 | g.3792058T>G | CA394560795 | CREBBP | c.1253A>C (p.His418Pro) c.1216+1328A>C (n.1216+1328A>C) c.1199A>C (p.His400Pro) c.500A>C (p.His167Pro) | |
| 16 | g.3792059G>A | CA394560799 | CREBBP | c.1252C>T (p.His418Tyr) c.1216+1327C>T (n.1216+1327C>T) c.1198C>T (p.His400Tyr) c.499C>T (p.His167Tyr) | |
| 16 | g.3792059G>C | CA394560801 | CREBBP | c.1252C>G (p.His418Asp) c.1216+1327C>G (n.1216+1327C>G) c.1198C>G (p.His400Asp) c.499C>G (p.His167Asp) | |
| 16 | g.3792059G= | CA2202953695 | CREBBP | c.1252C= (p.His418=) c.1216+1327C= (n.1216+1327C=) c.1198C= (p.His400=) c.499C= (p.His167=) | |
| 16 | g.3792059G>T | CA394560797 | CREBBP | c.1252C>A (p.His418Asn) c.1216+1327C>A (n.1216+1327C>A) c.1198C>A (p.His400Asn) c.499C>A (p.His167Asn) | ClinVar dbSNP |
| 16 | g.3792059_3792060delinsGA | CA2202953694 | CREBBP | c.1251_1252delinsTC (p.Ser417=) c.1216+1326_1216+1327delinsTC (n.1216+1326_1216+1327delinsTC) c.1197_1198delinsTC (p.Ser399=) c.498_499delinsTC (p.Ser166=) | |
| 16 | g.3792063_3792064del | CA2695222694 | CREBBP | c.1251_1252del (p.His418LeufsTer8) c.1216+1326_1216+1327del (n.1216+1326_1216+1327del) c.1197_1198del (p.His400LeufsTer8) c.498_499del (p.His167LeufsTer8) | |
| 16 | g.3792060del | CA620462618 | CREBBP | c.1251del (p.His418IlefsTer16) c.1216+1326del (n.1216+1326del) c.1197del (p.His400IlefsTer16) c.498del (p.His167IlefsTer16) | dbSNP gnomAD v2 |
| 16 | g.3792060A>C | CA493277096 | CREBBP | c.1251T>G (p.Ser417=) c.1216+1326T>G (n.1216+1326T>G) c.1197T>G (p.Ser399=) c.498T>G (p.Ser166=) | |
| 16 | g.3792060A>G | CA493277098 | CREBBP | c.1251T>C (p.Ser417=) c.1216+1326T>C (n.1216+1326T>C) c.1197T>C (p.Ser399=) c.498T>C (p.Ser166=) | |
| 16 | g.3792060A>T | CA493277099 | CREBBP | c.1251T>A (p.Ser417=) c.1216+1326T>A (n.1216+1326T>A) c.1197T>A (p.Ser399=) c.498T>A (p.Ser166=) | |
| 16 | g.3792061G>A | CA394560803 | CREBBP | c.1250C>T (p.Ser417Phe) c.1216+1325C>T (n.1216+1325C>T) c.1196C>T (p.Ser399Phe) c.497C>T (p.Ser166Phe) | dbSNP |
| 16 | g.3792061G>C | CA394560805 | CREBBP | c.1250C>G (p.Ser417Cys) c.1216+1325C>G (n.1216+1325C>G) c.1196C>G (p.Ser399Cys) c.497C>G (p.Ser166Cys) | |
| 16 | g.3792061G= | CA2202953701 | CREBBP | c.1250C= (p.Ser417=) c.1216+1325C= (n.1216+1325C=) c.1196C= (p.Ser399=) c.497C= (p.Ser166=) | |
| 16 | g.3792061G>T | CA394560807 | CREBBP | c.1250C>A (p.Ser417Tyr) c.1216+1325C>A (n.1216+1325C>A) c.1196C>A (p.Ser399Tyr) c.497C>A (p.Ser166Tyr) | |
| 16 | g.3792062A>C | CA394560808 | CREBBP | c.1249T>G (p.Ser417Ala) c.1216+1324T>G (n.1216+1324T>G) c.1195T>G (p.Ser399Ala) c.496T>G (p.Ser166Ala) | |
| 16 | g.3792062A>G | CA394560810 | CREBBP | c.1249T>C (p.Ser417Pro) c.1216+1324T>C (n.1216+1324T>C) c.1195T>C (p.Ser399Pro) c.496T>C (p.Ser166Pro) | |
| 16 | g.3792062A>T | CA394560812 | CREBBP | c.1249T>A (p.Ser417Thr) c.1216+1324T>A (n.1216+1324T>A) c.1195T>A (p.Ser399Thr) c.496T>A (p.Ser166Thr) | |
| 16 | g.3792063G>A | CA493277101 | CREBBP | c.1248C>T (p.Ile416=) c.1216+1323C>T (n.1216+1323C>T) c.1194C>T (p.Ile398=) c.495C>T (p.Ile165=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3792063G>C | CA394560813 | CREBBP | c.1248C>G (p.Ile416Met) c.1216+1323C>G (n.1216+1323C>G) c.1194C>G (p.Ile398Met) c.495C>G (p.Ile165Met) | |
| 16 | g.3792063G= | CA2202953704 | CREBBP | c.1248C= (p.Ile416=) c.1216+1323C= (n.1216+1323C=) c.1194C= (p.Ile398=) c.495C= (p.Ile165=) | |
| 16 | g.3792063G>T | CA493277102 | CREBBP | c.1248C>A (p.Ile416=) c.1216+1323C>A (n.1216+1323C>A) c.1194C>A (p.Ile398=) c.495C>A (p.Ile165=) | |
| 16 | g.3792064A>C | CA394560815 | CREBBP | c.1247T>G (p.Ile416Ser) c.1216+1322T>G (n.1216+1322T>G) c.1193T>G (p.Ile398Ser) c.494T>G (p.Ile165Ser) | |
| 16 | g.3792064A>G | CA394560817 | CREBBP | c.1247T>C (p.Ile416Thr) c.1216+1322T>C (n.1216+1322T>C) c.1193T>C (p.Ile398Thr) c.494T>C (p.Ile165Thr) | |
| 16 | g.3792064A>T | CA394560819 | CREBBP | c.1247T>A (p.Ile416Asn) c.1216+1322T>A (n.1216+1322T>A) c.1193T>A (p.Ile398Asn) c.494T>A (p.Ile165Asn) | |
| 16 | g.3792065T>A | CA394560821 | CREBBP | c.1246A>T (p.Ile416Phe) c.1216+1321A>T (n.1216+1321A>T) c.1192A>T (p.Ile398Phe) c.493A>T (p.Ile165Phe) | |
| 16 | g.3792065T>C | CA394560823 | CREBBP | c.1246A>G (p.Ile416Val) c.1216+1321A>G (n.1216+1321A>G) c.1192A>G (p.Ile398Val) c.493A>G (p.Ile165Val) | COSMIC |
| 16 | g.3792065T>G | CA394560825 | CREBBP | c.1246A>C (p.Ile416Leu) c.1216+1321A>C (n.1216+1321A>C) c.1192A>C (p.Ile398Leu) c.493A>C (p.Ile165Leu) | |
| 16 | g.3792066G>A | CA493277104 | CREBBP | c.1245C>T (p.Ile415=) c.1216+1320C>T (n.1216+1320C>T) c.1191C>T (p.Ile397=) c.492C>T (p.Ile164=) | |
| 16 | g.3792066G>C | CA394560827 | CREBBP | c.1245C>G (p.Ile415Met) c.1216+1320C>G (n.1216+1320C>G) c.1191C>G (p.Ile397Met) c.492C>G (p.Ile164Met) | gnomAD v4 |
| 16 | g.3792066G>T | CA493277106 | CREBBP | c.1245C>A (p.Ile415=) c.1216+1320C>A (n.1216+1320C>A) c.1191C>A (p.Ile397=) c.492C>A (p.Ile164=) | |
| 16 | g.3792067A>C | CA394560832 | CREBBP | c.1244T>G (p.Ile415Ser) c.1216+1319T>G (n.1216+1319T>G) c.1190T>G (p.Ile397Ser) c.491T>G (p.Ile164Ser) | |
| 16 | g.3792067A>G | CA394560833 | CREBBP | c.1244T>C (p.Ile415Thr) c.1216+1319T>C (n.1216+1319T>C) c.1190T>C (p.Ile397Thr) c.491T>C (p.Ile164Thr) | |
| 16 | g.3792067A>T | CA394560830 | CREBBP | c.1244T>A (p.Ile415Asn) c.1216+1319T>A (n.1216+1319T>A) c.1190T>A (p.Ile397Asn) c.491T>A (p.Ile164Asn) | |
| 16 | g.3792068T>A | CA394560835 | CREBBP | c.1243A>T (p.Ile415Phe) c.1216+1318A>T (n.1216+1318A>T) c.1189A>T (p.Ile397Phe) c.490A>T (p.Ile164Phe) | |
| 16 | g.3792068T>C | CA394560836 | CREBBP | c.1243A>G (p.Ile415Val) c.1216+1318A>G (n.1216+1318A>G) c.1189A>G (p.Ile397Val) c.490A>G (p.Ile164Val) | |
| 16 | g.3792068T>G | CA394560838 | CREBBP | c.1243A>C (p.Ile415Leu) c.1216+1318A>C (n.1216+1318A>C) c.1189A>C (p.Ile397Leu) c.490A>C (p.Ile164Leu) | |
| 16 | g.3792069T>A | CA394560840 | CREBBP | c.1242A>T (p.Gln414His) c.1216+1317A>T (n.1216+1317A>T) c.1188A>T (p.Gln396His) c.489A>T (p.Gln163His) | |
| 16 | g.3792069T>C | CA7870488 | CREBBP | c.1242A>G (p.Gln414=) c.1216+1317A>G (n.1216+1317A>G) c.1188A>G (p.Gln396=) c.489A>G (p.Gln163=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3792069T>G | CA394560843 | CREBBP | c.1242A>C (p.Gln414His) c.1216+1317A>C (n.1216+1317A>C) c.1188A>C (p.Gln396His) c.489A>C (p.Gln163His) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3792069T= | CA2202953708 | CREBBP | c.1242A= (p.Gln414=) c.1216+1317A= (n.1216+1317A=) c.1188A= (p.Gln396=) c.489A= (p.Gln163=) | |
| 16 | g.3792070T>A | CA394560844 | CREBBP | c.1241A>T (p.Gln414Leu) c.1216+1316A>T (n.1216+1316A>T) c.1187A>T (p.Gln396Leu) c.488A>T (p.Gln163Leu) | |
| 16 | g.3792070T>C | CA394560846 | CREBBP | c.1241A>G (p.Gln414Arg) c.1216+1316A>G (n.1216+1316A>G) c.1187A>G (p.Gln396Arg) c.488A>G (p.Gln163Arg) | |
| 16 | g.3792070T>G | CA394560848 | CREBBP | c.1241A>C (p.Gln414Pro) c.1216+1316A>C (n.1216+1316A>C) c.1187A>C (p.Gln396Pro) c.488A>C (p.Gln163Pro) | |
| 16 | g.3792071G>A | CA394560851 | CREBBP | c.1240C>T (p.Gln414Ter) c.1216+1315C>T (n.1216+1315C>T) c.1186C>T (p.Gln396Ter) c.487C>T (p.Gln163Ter) | |
| 16 | g.3792071G>C | CA394560853 | CREBBP | c.1240C>G (p.Gln414Glu) c.1216+1315C>G (n.1216+1315C>G) c.1186C>G (p.Gln396Glu) c.487C>G (p.Gln163Glu) | |
| 16 | g.3792071G>T | CA394560855 | CREBBP | c.1240C>A (p.Gln414Lys) c.1216+1315C>A (n.1216+1315C>A) c.1186C>A (p.Gln396Lys) c.487C>A (p.Gln163Lys) | |
| 16 | g.3792072T>A | CA493277111 | CREBBP | c.1239A>T (p.Arg413=) c.1216+1314A>T (n.1216+1314A>T) c.1185A>T (p.Arg395=) c.486A>T (p.Arg162=) | |
| 16 | g.3792072T>C | CA493277113 | CREBBP | c.1239A>G (p.Arg413=) c.1216+1314A>G (n.1216+1314A>G) c.1185A>G (p.Arg395=) c.486A>G (p.Arg162=) | |
| 16 | g.3792072T>G | CA493277112 | CREBBP | c.1239A>C (p.Arg413=) c.1216+1314A>C (n.1216+1314A>C) c.1185A>C (p.Arg395=) c.486A>C (p.Arg162=) | |
| 16 | g.3792073del | CA2695222695 | CREBBP | c.1238del (p.Arg413HisfsTer21) c.1216+1313del (n.1216+1313del) c.1184del (p.Arg395HisfsTer21) c.485del (p.Arg162HisfsTer21) | |
| 16 | g.3792073C>A | CA394560857 | CREBBP | c.1238G>T (p.Arg413Leu) c.1216+1313G>T (n.1216+1313G>T) c.1184G>T (p.Arg395Leu) c.485G>T (p.Arg162Leu) | |
| 16 | g.3792073C= | CA2202953712 | CREBBP | c.1238G= (p.Arg413=) c.1216+1313G= (n.1216+1313G=) c.1184G= (p.Arg395=) c.485G= (p.Arg162=) | |
| 16 | g.3792073C>G | CA394560858 | CREBBP | c.1238G>C (p.Arg413Pro) c.1216+1313G>C (n.1216+1313G>C) c.1184G>C (p.Arg395Pro) c.485G>C (p.Arg162Pro) | |
| 16 | g.3792073C>T | CA394560860 | CREBBP | c.1238G>A (p.Arg413Gln) c.1216+1313G>A (n.1216+1313G>A) c.1184G>A (p.Arg395Gln) c.485G>A (p.Arg162Gln) | dbSNP gnomAD v4 COSMIC |
| 16 | g.3792074G>A | CA394560862 | CREBBP | c.1237C>T (p.Arg413Ter) c.1216+1312C>T (n.1216+1312C>T) c.1183C>T (p.Arg395Ter) c.484C>T (p.Arg162Ter) | ClinVar dbSNP |
| 16 | g.3792074G>C | CA394560863 | CREBBP | c.1237C>G (p.Arg413Gly) c.1216+1312C>G (n.1216+1312C>G) c.1183C>G (p.Arg395Gly) c.484C>G (p.Arg162Gly) | |
| 16 | g.3792074G= | CA2202953716 | CREBBP | c.1237C= (p.Arg413=) c.1216+1312C= (n.1216+1312C=) c.1183C= (p.Arg395=) c.484C= (p.Arg162=) | |
| 16 | g.3792074G>T | CA493277117 | CREBBP | c.1237C>A (p.Arg413=) c.1216+1312C>A (n.1216+1312C>A) c.1183C>A (p.Arg395=) c.484C>A (p.Arg162=) | |
| 16 | g.3792075T>A | CA493277118 | CREBBP | c.1236A>T (p.Ser412=) c.1216+1311A>T (n.1216+1311A>T) c.1182A>T (p.Ser394=) c.483A>T (p.Ser161=) | |
| 16 | g.3792075T>C | CA493277119 | CREBBP | c.1236A>G (p.Ser412=) c.1216+1311A>G (n.1216+1311A>G) c.1182A>G (p.Ser394=) c.483A>G (p.Ser161=) | |
| 16 | g.3792075T>G | CA493277120 | CREBBP | c.1236A>C (p.Ser412=) c.1216+1311A>C (n.1216+1311A>C) c.1182A>C (p.Ser394=) c.483A>C (p.Ser161=) | |
| 16 | g.3792076G>A | CA394560864 | CREBBP | c.1235C>T (p.Ser412Leu) c.1216+1310C>T (n.1216+1310C>T) c.1181C>T (p.Ser394Leu) c.482C>T (p.Ser161Leu) | |
| 16 | g.3792076G>C | CA394560865 | CREBBP | c.1235C>G (p.Ser412Ter) c.1216+1310C>G (n.1216+1310C>G) c.1181C>G (p.Ser394Ter) c.482C>G (p.Ser161Ter) | |
| 16 | g.3792076G>T | CA394560867 | CREBBP | c.1235C>A (p.Ser412Ter) c.1216+1310C>A (n.1216+1310C>A) c.1181C>A (p.Ser394Ter) c.482C>A (p.Ser161Ter) | |
| 16 | g.3792077A>C | CA394560869 | CREBBP | c.1234T>G (p.Ser412Ala) c.1216+1309T>G (n.1216+1309T>G) c.1180T>G (p.Ser394Ala) c.481T>G (p.Ser161Ala) | |
| 16 | g.3792077A>G | CA394560871 | CREBBP | c.1234T>C (p.Ser412Pro) c.1216+1309T>C (n.1216+1309T>C) c.1180T>C (p.Ser394Pro) c.481T>C (p.Ser161Pro) | |
| 16 | g.3792077A>T | CA394560874 | CREBBP | c.1234T>A (p.Ser412Thr) c.1216+1309T>A (n.1216+1309T>A) c.1180T>A (p.Ser394Thr) c.481T>A (p.Ser161Thr) | |
| 16 | g.3792078A>C | CA493277123 | CREBBP | c.1233T>G (p.Ser411=) c.1216+1308T>G (n.1216+1308T>G) c.1179T>G (p.Ser393=) c.480T>G (p.Ser160=) | |
| 16 | g.3792078A>G | CA493277124 | CREBBP | c.1233T>C (p.Ser411=) c.1216+1308T>C (n.1216+1308T>C) c.1179T>C (p.Ser393=) c.480T>C (p.Ser160=) | ClinVar |
| 16 | g.3792078A>T | CA493277126 | CREBBP | c.1233T>A (p.Ser411=) c.1216+1308T>A (n.1216+1308T>A) c.1179T>A (p.Ser393=) c.480T>A (p.Ser160=) | |
| 16 | g.3792079G>A | CA394560877 | CREBBP | c.1232C>T (p.Ser411Phe) c.1216+1307C>T (n.1216+1307C>T) c.1178C>T (p.Ser393Phe) c.479C>T (p.Ser160Phe) | |
| 16 | g.3792079G>C | CA394560879 | CREBBP | c.1232C>G (p.Ser411Cys) c.1216+1307C>G (n.1216+1307C>G) c.1178C>G (p.Ser393Cys) c.479C>G (p.Ser160Cys) | |
| 16 | g.3792079G>T | CA394560882 | CREBBP | c.1232C>A (p.Ser411Tyr) c.1216+1307C>A (n.1216+1307C>A) c.1178C>A (p.Ser393Tyr) c.479C>A (p.Ser160Tyr) | |
| 16 | g.3792079_3792086delinsGATGCACA | CA2202953720 | CREBBP | c.1225_1232delinsTGTGCATC (p.Cys409=) c.1216+1300_1216+1307delinsTGTGCATC (n.1216+1300_1216+1307delinsTGTGCATC) c.1171_1178delinsTGTGCATC (p.Cys391=) c.472_479delinsTGTGCATC (p.Cys158=) | |
| 16 | g.3792080A>C | CA394560887 | CREBBP | c.1231T>G (p.Ser411Ala) c.1216+1306T>G (n.1216+1306T>G) c.1177T>G (p.Ser393Ala) c.478T>G (p.Ser160Ala) | |
| 16 | g.3792080A>G | CA394560895 | CREBBP | c.1231T>C (p.Ser411Pro) c.1216+1306T>C (n.1216+1306T>C) c.1177T>C (p.Ser393Pro) c.478T>C (p.Ser160Pro) | |
| 16 | g.3792080A>T | CA394560898 | CREBBP | c.1231T>A (p.Ser411Thr) c.1216+1306T>A (n.1216+1306T>A) c.1177T>A (p.Ser393Thr) c.478T>A (p.Ser160Thr) | gnomAD v4 |
| 16 | g.3792083_3792089del | CA915949050 | CREBBP | c.1225_1231del (p.Cys409LeufsTer23) c.1216+1300_1216+1306del (n.1216+1300_1216+1306del) c.1171_1177del (p.Cys391LeufsTer23) c.472_478del (p.Cys158LeufsTer23) | ClinVar dbSNP |
| 16 | g.3792081T>A | CA493277129 | CREBBP | c.1230A>T (p.Ala410=) c.1216+1305A>T (n.1216+1305A>T) c.1176A>T (p.Ala392=) c.477A>T (p.Ala159=) | |
| 16 | g.3792081T>C | CA7870489 | CREBBP | c.1230A>G (p.Ala410=) c.1216+1305A>G (n.1216+1305A>G) c.1176A>G (p.Ala392=) c.477A>G (p.Ala159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3792081T>G | CA493277130 | CREBBP | c.1230A>C (p.Ala410=) c.1216+1305A>C (n.1216+1305A>C) c.1176A>C (p.Ala392=) c.477A>C (p.Ala159=) | |
| 16 | g.3792081T= | CA2202953728 | CREBBP | c.1230A= (p.Ala410=) c.1216+1305A= (n.1216+1305A=) c.1176A= (p.Ala392=) c.477A= (p.Ala159=) | |
| 16 | g.3792082G>A | CA394560904 | CREBBP | c.1229C>T (p.Ala410Val) c.1216+1304C>T (n.1216+1304C>T) c.1175C>T (p.Ala392Val) c.476C>T (p.Ala159Val) | COSMIC |
| 16 | g.3792082G>C | CA394560911 | CREBBP | c.1229C>G (p.Ala410Gly) c.1216+1304C>G (n.1216+1304C>G) c.1175C>G (p.Ala392Gly) c.476C>G (p.Ala159Gly) | |
| 16 | g.3792082G>T | CA394560908 | CREBBP | c.1229C>A (p.Ala410Glu) c.1216+1304C>A (n.1216+1304C>A) c.1175C>A (p.Ala392Glu) c.476C>A (p.Ala159Glu) | |
| 16 | g.3792083C>A | CA394560914 | CREBBP | c.1228G>T (p.Ala410Ser) c.1216+1303G>T (n.1216+1303G>T) c.1174G>T (p.Ala392Ser) c.475G>T (p.Ala159Ser) | |
| 16 | g.3792083C>G | CA394560916 | CREBBP | c.1228G>C (p.Ala410Pro) c.1216+1303G>C (n.1216+1303G>C) c.1174G>C (p.Ala392Pro) c.475G>C (p.Ala159Pro) | |
| 16 | g.3792083C>T | CA394560919 | CREBBP | c.1228G>A (p.Ala410Thr) c.1216+1303G>A (n.1216+1303G>A) c.1174G>A (p.Ala392Thr) c.475G>A (p.Ala159Thr) | |
| 16 | g.3792084A>C | CA394560921 | CREBBP | c.1227T>G (p.Cys409Trp) c.1216+1302T>G (n.1216+1302T>G) c.1173T>G (p.Cys391Trp) c.474T>G (p.Cys158Trp) | gnomAD v4 |
| 16 | g.3792084A>G | CA493277134 | CREBBP | c.1227T>C (p.Cys409=) c.1216+1302T>C (n.1216+1302T>C) c.1173T>C (p.Cys391=) c.474T>C (p.Cys158=) | gnomAD v4 |
| 16 | g.3792084A>T | CA394560923 | CREBBP | c.1227T>A (p.Cys409Ter) c.1216+1302T>A (n.1216+1302T>A) c.1173T>A (p.Cys391Ter) c.474T>A (p.Cys158Ter) | |
| 16 | g.3792085C>A | CA394560927 | CREBBP | c.1226G>T (p.Cys409Phe) c.1216+1301G>T (n.1216+1301G>T) c.1172G>T (p.Cys391Phe) c.473G>T (p.Cys158Phe) | ClinVar dbSNP |
| 16 | g.3792085C>G | CA394560933 | CREBBP | c.1226G>C (p.Cys409Ser) c.1216+1301G>C (n.1216+1301G>C) c.1172G>C (p.Cys391Ser) c.473G>C (p.Cys158Ser) | |
| 16 | g.3792085C>T | CA394560935 | CREBBP | c.1226G>A (p.Cys409Tyr) c.1216+1301G>A (n.1216+1301G>A) c.1172G>A (p.Cys391Tyr) c.473G>A (p.Cys158Tyr) | |
| 16 | g.3792086A>C | CA394560939 | CREBBP | c.1225T>G (p.Cys409Gly) c.1216+1300T>G (n.1216+1300T>G) c.1171T>G (p.Cys391Gly) c.472T>G (p.Cys158Gly) | |
| 16 | g.3792086A>G | CA394560941 | CREBBP | c.1225T>C (p.Cys409Arg) c.1216+1300T>C (n.1216+1300T>C) c.1171T>C (p.Cys391Arg) c.472T>C (p.Cys158Arg) | |
| 16 | g.3792086A>T | CA394560944 | CREBBP | c.1225T>A (p.Cys409Ser) c.1216+1300T>A (n.1216+1300T>A) c.1171T>A (p.Cys391Ser) c.472T>A (p.Cys158Ser) | |
| 16 | g.3792087A>C | CA394560947 | CREBBP | c.1224T>G (p.His408Gln) c.1216+1299T>G (n.1216+1299T>G) c.1170T>G (p.His390Gln) c.471T>G (p.His157Gln) | |
| 16 | g.3792087A>G | CA493277139 | CREBBP | c.1224T>C (p.His408=) c.1216+1299T>C (n.1216+1299T>C) c.1170T>C (p.His390=) c.471T>C (p.His157=) | |
| 16 | g.3792087A>T | CA394560949 | CREBBP | c.1224T>A (p.His408Gln) c.1216+1299T>A (n.1216+1299T>A) c.1170T>A (p.His390Gln) c.471T>A (p.His157Gln) | gnomAD v4 |
| 16 | g.3792088T>A | CA394560958 | CREBBP | c.1223A>T (p.His408Leu) c.1216+1298A>T (n.1216+1298A>T) c.1169A>T (p.His390Leu) c.470A>T (p.His157Leu) | |
| 16 | g.3792088T>C | CA394560953 | CREBBP | c.1223A>G (p.His408Arg) c.1216+1298A>G (n.1216+1298A>G) c.1169A>G (p.His390Arg) c.470A>G (p.His157Arg) | |
| 16 | g.3792088T>G | CA394560955 | CREBBP | c.1223A>C (p.His408Pro) c.1216+1298A>C (n.1216+1298A>C) c.1169A>C (p.His390Pro) c.470A>C (p.His157Pro) | |
| 16 | g.3792089G>A | CA394560960 | CREBBP | c.1222C>T (p.His408Tyr) c.1216+1297C>T (n.1216+1297C>T) c.1168C>T (p.His390Tyr) c.469C>T (p.His157Tyr) | |
| 16 | g.3792089G>C | CA394560962 | CREBBP | c.1222C>G (p.His408Asp) c.1216+1297C>G (n.1216+1297C>G) c.1168C>G (p.His390Asp) c.469C>G (p.His157Asp) | |
| 16 | g.3792089G>T | CA394560964 | CREBBP | c.1222C>A (p.His408Asn) c.1216+1297C>A (n.1216+1297C>A) c.1168C>A (p.His390Asn) c.469C>A (p.His157Asn) | |
| 16 | g.3792090G>A | CA493277142 | CREBBP | c.1221C>T (p.Ala407=) c.1216+1296C>T (n.1216+1296C>T) c.1167C>T (p.Ala389=) c.468C>T (p.Ala156=) | |
| 16 | g.3792090G>C | CA493277143 | CREBBP | c.1221C>G (p.Ala407=) c.1216+1296C>G (n.1216+1296C>G) c.1167C>G (p.Ala389=) c.468C>G (p.Ala156=) | |
| 16 | g.3792090G>T | CA493277144 | CREBBP | c.1221C>A (p.Ala407=) c.1216+1296C>A (n.1216+1296C>A) c.1167C>A (p.Ala389=) c.468C>A (p.Ala156=) | gnomAD v4 |
| 16 | g.3792091G>A | CA394560968 | CREBBP | c.1220C>T (p.Ala407Val) c.1216+1295C>T (n.1216+1295C>T) c.1166C>T (p.Ala389Val) c.467C>T (p.Ala156Val) | |
| 16 | g.3792091G>C | CA394560971 | CREBBP | c.1220C>G (p.Ala407Gly) c.1216+1295C>G (n.1216+1295C>G) c.1166C>G (p.Ala389Gly) c.467C>G (p.Ala156Gly) | |
| 16 | g.3792091G>T | CA394560972 | CREBBP | c.1220C>A (p.Ala407Asp) c.1216+1295C>A (n.1216+1295C>A) c.1166C>A (p.Ala389Asp) c.467C>A (p.Ala156Asp) | |
| 16 | g.3792092C>A | CA394560977 | CREBBP | c.1219G>T (p.Ala407Ser) c.1216+1294G>T (n.1216+1294G>T) c.1165G>T (p.Ala389Ser) c.466G>T (p.Ala156Ser) | |
| 16 | g.3792092C>G | CA394560979 | CREBBP | c.1219G>C (p.Ala407Pro) c.1216+1294G>C (n.1216+1294G>C) c.1165G>C (p.Ala389Pro) c.466G>C (p.Ala156Pro) | gnomAD v4 |
| 16 | g.3792092C>T | CA394560981 | CREBBP | c.1219G>A (p.Ala407Thr) c.1216+1294G>A (n.1216+1294G>A) c.1165G>A (p.Ala389Thr) c.466G>A (p.Ala156Thr) | |
| 16 | g.3792093A>C | CA493277150 | CREBBP | c.1218T>G (p.Val406=) c.1216+1293T>G (n.1216+1293T>G) c.1164T>G (p.Val388=) c.465T>G (p.Val155=) | |
| 16 | g.3792093A>G | CA493277148 | CREBBP | c.1218T>C (p.Val406=) c.1216+1293T>C (n.1216+1293T>C) c.1164T>C (p.Val388=) c.465T>C (p.Val155=) | gnomAD v4 |
| 16 | g.3792093A>T | CA493277149 | CREBBP | c.1218T>A (p.Val406=) c.1216+1293T>A (n.1216+1293T>A) c.1164T>A (p.Val388=) c.465T>A (p.Val155=) | |
| 16 | g.3792093_3792094insTCTTC | CA2631429203 | CREBBP | c.1217_1218insGAAGA (p.Ala407LysfsTer29) c.1216+1292_1216+1293insGAAGA (n.1216+1292_1216+1293insGAAGA) c.1163_1164insGAAGA (p.Ala389LysfsTer29) c.464_465insGAAGA (p.Ala156LysfsTer29) | gnomAD v4 |
| 16 | g.3792094A>C | CA394560983 | CREBBP | c.1217T>G (p.Val406Gly) c.1216+1292T>G (n.1216+1292T>G) c.1163T>G (p.Val388Gly) c.464T>G (p.Val155Gly) | |
| 16 | g.3792094A>G | CA394560985 | CREBBP | c.1217T>C (p.Val406Ala) c.1216+1292T>C (n.1216+1292T>C) c.1163T>C (p.Val388Ala) c.464T>C (p.Val155Ala) | |
| 16 | g.3792094A>T | CA394560986 | CREBBP | c.1217T>A (p.Val406Asp) c.1216+1292T>A (n.1216+1292T>A) c.1163T>A (p.Val388Asp) c.464T>A (p.Val155Asp) | gnomAD v4 |
| 16 | g.3792095C>A | CA394560994 | CREBBP | c.1217-1G>T (n.1217-1G>T) c.1216+1291G>T (n.1216+1291G>T) c.1163-1G>T (n.1163-1G>T) c.464-1G>T (n.464-1G>T) | |
| 16 | g.3792095C>G | CA394560989 | CREBBP | c.1217-1G>C (n.1217-1G>C) c.1216+1291G>C (n.1216+1291G>C) c.1163-1G>C (n.1163-1G>C) c.464-1G>C (n.464-1G>C) | |
| 16 | g.3792095C>T | CA394560991 | CREBBP | c.1217-1G>A (n.1217-1G>A) c.1216+1291G>A (n.1216+1291G>A) c.1163-1G>A (n.1163-1G>A) c.464-1G>A (n.464-1G>A) | |
| 16 | g.3792096T>A | CA394560997 | CREBBP | c.1217-2A>T (n.1217-2A>T) c.1216+1290A>T (n.1216+1290A>T) c.1163-2A>T (n.1163-2A>T) c.464-2A>T (n.464-2A>T) | |
| 16 | g.3792096T>C | CA394561001 | CREBBP | c.1217-2A>G (n.1217-2A>G) c.1216+1290A>G (n.1216+1290A>G) c.1163-2A>G (n.1163-2A>G) c.464-2A>G (n.464-2A>G) | |
| 16 | g.3792096T>G | CA394561000 | CREBBP | c.1217-2A>C (n.1217-2A>C) c.1216+1290A>C (n.1216+1290A>C) c.1163-2A>C (n.1163-2A>C) c.464-2A>C (n.464-2A>C) | |
| 16 | g.3792096_3792097insTC | CA2631429204 | CREBBP | c.1217-3_1217-2insGA (n.1217-3_1217-2insGA) c.1216+1289_1216+1290insGA (n.1216+1289_1216+1290insGA) c.1163-3_1163-2insGA (n.1163-3_1163-2insGA) c.464-3_464-2insGA (n.464-3_464-2insGA) | gnomAD v4 |
| 16 | g.3792098T>C | CA7870490 | CREBBP | c.1217-4A>G (n.1217-4A>G) c.1216+1288A>G (n.1216+1288A>G) c.1163-4A>G (n.1163-4A>G) c.464-4A>G (n.464-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3792098T= | CA2202953731 | CREBBP | c.1217-4A= (n.1217-4A=) c.1216+1288A= (n.1216+1288A=) c.1163-4A= (n.1163-4A=) c.464-4A= (n.464-4A=) | |
| 16 | g.3792099G>T | CA2631429205 | CREBBP | c.1217-5C>A (n.1217-5C>A) c.1216+1287C>A (n.1216+1287C>A) c.1163-5C>A (n.1163-5C>A) c.464-5C>A (n.464-5C>A) | gnomAD v4 |
| 16 | g.3792101C>A | CA2631429206 | CREBBP | c.1217-7G>T (n.1217-7G>T) c.1216+1285G>T (n.1216+1285G>T) c.1163-7G>T (n.1163-7G>T) c.464-7G>T (n.464-7G>T) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3792101C= | CA2202953733 | CREBBP | c.1217-7G= (n.1217-7G=) c.1216+1285G= (n.1216+1285G=) c.1163-7G= (n.1163-7G=) c.464-7G= (n.464-7G=) | |
| 16 | g.3792101C>T | CA2202953734 | CREBBP | c.1217-7G>A (n.1217-7G>A) c.1216+1285G>A (n.1216+1285G>A) c.1163-7G>A (n.1163-7G>A) c.464-7G>A (n.464-7G>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3792102C>A | CA2631429207 | CREBBP | c.1217-8G>T (n.1217-8G>T) c.1216+1284G>T (n.1216+1284G>T) c.1163-8G>T (n.1163-8G>T) c.464-8G>T (n.464-8G>T) | gnomAD v4 |
| 16 | g.3792103A>T | CA2575894450 | CREBBP | c.1217-9T>A (n.1217-9T>A) c.1216+1283T>A (n.1216+1283T>A) c.1163-9T>A (n.1163-9T>A) c.464-9T>A (n.464-9T>A) | |
| 16 | g.3792104G>T | CA2631429208 | CREBBP | c.1217-10C>A (n.1217-10C>A) c.1216+1282C>A (n.1216+1282C>A) c.1163-10C>A (n.1163-10C>A) c.464-10C>A (n.464-10C>A) | gnomAD v4 |
| 16 | g.3792107_3792110delinsAAAC | CA2202953735 | CREBBP | c.1217-16_1217-13delinsGTTT (n.1217-16_1217-13delinsGTTT) c.1216+1276_1216+1279delinsGTTT (n.1216+1276_1216+1279delinsGTTT) c.1163-16_1163-13delinsGTTT (n.1163-16_1163-13delinsGTTT) c.464-16_464-13delinsGTTT (n.464-16_464-13delinsGTTT) | |
| 16 | g.3792111_3792113del | CA493277154 | CREBBP | c.1217-16_1217-14del (n.1217-16_1217-14del) c.1216+1276_1216+1278del (n.1216+1276_1216+1278del) c.1163-16_1163-14del (n.1163-16_1163-14del) c.464-16_464-14del (n.464-16_464-14del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3792109A>G | CA2575894451 | CREBBP | c.1217-15T>C (n.1217-15T>C) c.1216+1277T>C (n.1216+1277T>C) c.1163-15T>C (n.1163-15T>C) c.464-15T>C (n.464-15T>C) |