| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3758886G>A | CA222692 | CREBBP | c.3337C>T (p.Gln1113Ter) c.3223C>T (p.Gln1075Ter) c.1942C>T (p.Gln648Ter) c.3292C>T (p.Gln1098Ter) c.2920C>T (p.Gln974Ter) c.3283C>T (p.Gln1095Ter) c.2584C>T (p.Gln862Ter) c.3331C>T (p.Gln1111Ter) | ClinVar dbSNP |
| 16 | g.3758886G>C | CA394569488 | CREBBP | c.3337C>G (p.Gln1113Glu) c.3223C>G (p.Gln1075Glu) c.1942C>G (p.Gln648Glu) c.3292C>G (p.Gln1098Glu) c.2920C>G (p.Gln974Glu) c.3283C>G (p.Gln1095Glu) c.2584C>G (p.Gln862Glu) c.3331C>G (p.Gln1111Glu) | |
| 16 | g.3758886G= | CA2202944187 | CREBBP | c.3337C= (p.Gln1113=) c.3223C= (p.Gln1075=) c.1942C= (p.Gln648=) c.3292C= (p.Gln1098=) c.2920C= (p.Gln974=) c.3283C= (p.Gln1095=) c.2584C= (p.Gln862=) c.3331C= (p.Gln1111=) | |
| 16 | g.3758886G>T | CA394569489 | CREBBP | c.3337C>A (p.Gln1113Lys) c.3223C>A (p.Gln1075Lys) c.1942C>A (p.Gln648Lys) c.3292C>A (p.Gln1098Lys) c.2920C>A (p.Gln974Lys) c.3283C>A (p.Gln1095Lys) c.2584C>A (p.Gln862Lys) c.3331C>A (p.Gln1111Lys) | |
| 16 | g.3758887C>A | CA493285342 | CREBBP | c.3336G>T (p.Arg1112=) c.3222G>T (p.Arg1074=) c.1941G>T (p.Arg647=) c.3291G>T (p.Arg1097=) c.2919G>T (p.Arg973=) c.3282G>T (p.Arg1094=) c.2583G>T (p.Arg861=) c.3330G>T (p.Arg1110=) | |
| 16 | g.3758887C= | CA2202944188 | CREBBP | c.3336G= (p.Arg1112=) c.3222G= (p.Arg1074=) c.1941G= (p.Arg647=) c.3291G= (p.Arg1097=) c.2919G= (p.Arg973=) c.3282G= (p.Arg1094=) c.2583G= (p.Arg861=) c.3330G= (p.Arg1110=) | |
| 16 | g.3758887C>G | CA493285346 | CREBBP | c.3336G>C (p.Arg1112=) c.3222G>C (p.Arg1074=) c.1941G>C (p.Arg647=) c.3291G>C (p.Arg1097=) c.2919G>C (p.Arg973=) c.3282G>C (p.Arg1094=) c.2583G>C (p.Arg861=) c.3330G>C (p.Arg1110=) | dbSNP |
| 16 | g.3758887C>T | CA276998635 | CREBBP | c.3336G>A (p.Arg1112=) c.3222G>A (p.Arg1074=) c.1941G>A (p.Arg647=) c.3291G>A (p.Arg1097=) c.2919G>A (p.Arg973=) c.3282G>A (p.Arg1094=) c.2583G>A (p.Arg861=) c.3330G>A (p.Arg1110=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3758888C>A | CA394569490 | CREBBP | c.3335G>T (p.Arg1112Leu) c.3221G>T (p.Arg1074Leu) c.1940G>T (p.Arg647Leu) c.3290G>T (p.Arg1097Leu) c.2918G>T (p.Arg973Leu) c.3281G>T (p.Arg1094Leu) c.2582G>T (p.Arg861Leu) c.3329G>T (p.Arg1110Leu) | dbSNP |
| 16 | g.3758888C>G | CA394569491 | CREBBP | c.3335G>C (p.Arg1112Pro) c.3221G>C (p.Arg1074Pro) c.1940G>C (p.Arg647Pro) c.3290G>C (p.Arg1097Pro) c.2918G>C (p.Arg973Pro) c.3281G>C (p.Arg1094Pro) c.2582G>C (p.Arg861Pro) c.3329G>C (p.Arg1110Pro) | |
| 16 | g.3758888C>T | CA394569492 | CREBBP | c.3335G>A (p.Arg1112Gln) c.3221G>A (p.Arg1074Gln) c.1940G>A (p.Arg647Gln) c.3290G>A (p.Arg1097Gln) c.2918G>A (p.Arg973Gln) c.3281G>A (p.Arg1094Gln) c.2582G>A (p.Arg861Gln) c.3329G>A (p.Arg1110Gln) | dbSNP |
| 16 | g.3758888_3758893delinsCGGAAA | CA2202944189 | CREBBP | c.3330_3335delinsTTTCCG (p.Pro1110=) c.3216_3221delinsTTTCCG (p.Pro1072=) c.1935_1940delinsTTTCCG (p.Pro645=) c.3285_3290delinsTTTCCG (p.Pro1095=) c.2913_2918delinsTTTCCG (p.Pro971=) c.3276_3281delinsTTTCCG (p.Pro1092=) c.2577_2582delinsTTTCCG (p.Pro859=) c.3324_3329delinsTTTCCG (p.Pro1108=) | |
| 16 | g.3758889G>A | CA276998639 | CREBBP | c.3334C>T (p.Arg1112Trp) c.3220C>T (p.Arg1074Trp) c.1939C>T (p.Arg647Trp) c.3289C>T (p.Arg1097Trp) c.2917C>T (p.Arg973Trp) c.3280C>T (p.Arg1094Trp) c.2581C>T (p.Arg861Trp) c.3328C>T (p.Arg1110Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3758889G>C | CA394569493 | CREBBP | c.3334C>G (p.Arg1112Gly) c.3220C>G (p.Arg1074Gly) c.1939C>G (p.Arg647Gly) c.3289C>G (p.Arg1097Gly) c.2917C>G (p.Arg973Gly) c.3280C>G (p.Arg1094Gly) c.2581C>G (p.Arg861Gly) c.3328C>G (p.Arg1110Gly) | |
| 16 | g.3758889G= | CA2202944190 | CREBBP | c.3334C= (p.Arg1112=) c.3220C= (p.Arg1074=) c.1939C= (p.Arg647=) c.3289C= (p.Arg1097=) c.2917C= (p.Arg973=) c.3280C= (p.Arg1094=) c.2581C= (p.Arg861=) c.3328C= (p.Arg1110=) | |
| 16 | g.3758889G>T | CA493285354 | CREBBP | c.3334C>A (p.Arg1112=) c.3220C>A (p.Arg1074=) c.1939C>A (p.Arg647=) c.3289C>A (p.Arg1097=) c.2917C>A (p.Arg973=) c.3280C>A (p.Arg1094=) c.2581C>A (p.Arg861=) c.3328C>A (p.Arg1110=) | |
| 16 | g.3758891_3758895del | CA915949084 | CREBBP | c.3330_3334del (p.Phe1111AlafsTer15) c.3216_3220del (p.Phe1073AlafsTer15) c.1935_1939del (p.Phe646AlafsTer15) c.3285_3289del (p.Phe1096AlafsTer15) c.2913_2917del (p.Phe972AlafsTer15) c.3276_3280del (p.Phe1093AlafsTer15) c.2577_2581del (p.Phe860AlafsTer15) c.3324_3328del (p.Phe1109AlafsTer15) | ClinVar dbSNP |
| 16 | g.3758890G>A | CA493285355 | CREBBP | c.3333C>T (p.Phe1111=) c.3219C>T (p.Phe1073=) c.1938C>T (p.Phe646=) c.3288C>T (p.Phe1096=) c.2916C>T (p.Phe972=) c.3279C>T (p.Phe1093=) c.2580C>T (p.Phe860=) c.3327C>T (p.Phe1109=) | |
| 16 | g.3758890G>C | CA394569494 | CREBBP | c.3333C>G (p.Phe1111Leu) c.3219C>G (p.Phe1073Leu) c.1938C>G (p.Phe646Leu) c.3288C>G (p.Phe1096Leu) c.2916C>G (p.Phe972Leu) c.3279C>G (p.Phe1093Leu) c.2580C>G (p.Phe860Leu) c.3327C>G (p.Phe1109Leu) | |
| 16 | g.3758890G>T | CA394569495 | CREBBP | c.3333C>A (p.Phe1111Leu) c.3219C>A (p.Phe1073Leu) c.1938C>A (p.Phe646Leu) c.3288C>A (p.Phe1096Leu) c.2916C>A (p.Phe972Leu) c.3279C>A (p.Phe1093Leu) c.2580C>A (p.Phe860Leu) c.3327C>A (p.Phe1109Leu) | |
| 16 | g.3758891A>C | CA394569497 | CREBBP | c.3332T>G (p.Phe1111Cys) c.3218T>G (p.Phe1073Cys) c.1937T>G (p.Phe646Cys) c.3287T>G (p.Phe1096Cys) c.2915T>G (p.Phe972Cys) c.3278T>G (p.Phe1093Cys) c.2579T>G (p.Phe860Cys) c.3326T>G (p.Phe1109Cys) | |
| 16 | g.3758891A>G | CA394569498 | CREBBP | c.3332T>C (p.Phe1111Ser) c.3218T>C (p.Phe1073Ser) c.1937T>C (p.Phe646Ser) c.3287T>C (p.Phe1096Ser) c.2915T>C (p.Phe972Ser) c.3278T>C (p.Phe1093Ser) c.2579T>C (p.Phe860Ser) c.3326T>C (p.Phe1109Ser) | |
| 16 | g.3758891A>T | CA394569496 | CREBBP | c.3332T>A (p.Phe1111Tyr) c.3218T>A (p.Phe1073Tyr) c.1937T>A (p.Phe646Tyr) c.3287T>A (p.Phe1096Tyr) c.2915T>A (p.Phe972Tyr) c.3278T>A (p.Phe1093Tyr) c.2579T>A (p.Phe860Tyr) c.3326T>A (p.Phe1109Tyr) | |
| 16 | g.3758892A= | CA2202944191 | CREBBP | c.3331T= (p.Phe1111=) c.3217T= (p.Phe1073=) c.1936T= (p.Phe646=) c.3286T= (p.Phe1096=) c.2914T= (p.Phe972=) c.3277T= (p.Phe1093=) c.2578T= (p.Phe860=) c.3325T= (p.Phe1109=) | |
| 16 | g.3758892A>C | CA394569499 | CREBBP | c.3331T>G (p.Phe1111Val) c.3217T>G (p.Phe1073Val) c.1936T>G (p.Phe646Val) c.3286T>G (p.Phe1096Val) c.2914T>G (p.Phe972Val) c.3277T>G (p.Phe1093Val) c.2578T>G (p.Phe860Val) c.3325T>G (p.Phe1109Val) | |
| 16 | g.3758892A>G | CA7869850 | CREBBP | c.3331T>C (p.Phe1111Leu) c.3217T>C (p.Phe1073Leu) c.1936T>C (p.Phe646Leu) c.3286T>C (p.Phe1096Leu) c.2914T>C (p.Phe972Leu) c.3277T>C (p.Phe1093Leu) c.2578T>C (p.Phe860Leu) c.3325T>C (p.Phe1109Leu) | dbSNP ExAC gnomAD v2 |
| 16 | g.3758892A>T | CA394569500 | CREBBP | c.3331T>A (p.Phe1111Ile) c.3217T>A (p.Phe1073Ile) c.1936T>A (p.Phe646Ile) c.3286T>A (p.Phe1096Ile) c.2914T>A (p.Phe972Ile) c.3277T>A (p.Phe1093Ile) c.2578T>A (p.Phe860Ile) c.3325T>A (p.Phe1109Ile) | |
| 16 | g.3758893A= | CA2202944192 | CREBBP | c.3330T= (p.Pro1110=) c.3216T= (p.Pro1072=) c.1935T= (p.Pro645=) c.3285T= (p.Pro1095=) c.2913T= (p.Pro971=) c.3276T= (p.Pro1092=) c.2577T= (p.Pro859=) c.3324T= (p.Pro1108=) | |
| 16 | g.3758893A>C | CA493285367 | CREBBP | c.3330T>G (p.Pro1110=) c.3216T>G (p.Pro1072=) c.1935T>G (p.Pro645=) c.3285T>G (p.Pro1095=) c.2913T>G (p.Pro971=) c.3276T>G (p.Pro1092=) c.2577T>G (p.Pro859=) c.3324T>G (p.Pro1108=) | |
| 16 | g.3758893A>G | CA7869851 | CREBBP | c.3330T>C (p.Pro1110=) c.3216T>C (p.Pro1072=) c.1935T>C (p.Pro645=) c.3285T>C (p.Pro1095=) c.2913T>C (p.Pro971=) c.3276T>C (p.Pro1092=) c.2577T>C (p.Pro859=) c.3324T>C (p.Pro1108=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3758893A>T | CA493285370 | CREBBP | c.3330T>A (p.Pro1110=) c.3216T>A (p.Pro1072=) c.1935T>A (p.Pro645=) c.3285T>A (p.Pro1095=) c.2913T>A (p.Pro971=) c.3276T>A (p.Pro1092=) c.2577T>A (p.Pro859=) c.3324T>A (p.Pro1108=) | |
| 16 | g.3758894G>A | CA394569501 | CREBBP | c.3329C>T (p.Pro1110Leu) c.3215C>T (p.Pro1072Leu) c.1934C>T (p.Pro645Leu) c.3284C>T (p.Pro1095Leu) c.2912C>T (p.Pro971Leu) c.3275C>T (p.Pro1092Leu) c.2576C>T (p.Pro859Leu) c.3323C>T (p.Pro1108Leu) | COSMIC |
| 16 | g.3758894G>C | CA394569502 | CREBBP | c.3329C>G (p.Pro1110Arg) c.3215C>G (p.Pro1072Arg) c.1934C>G (p.Pro645Arg) c.3284C>G (p.Pro1095Arg) c.2912C>G (p.Pro971Arg) c.3275C>G (p.Pro1092Arg) c.2576C>G (p.Pro859Arg) c.3323C>G (p.Pro1108Arg) | COSMIC |
| 16 | g.3758894G>T | CA394569503 | CREBBP | c.3329C>A (p.Pro1110His) c.3215C>A (p.Pro1072His) c.1934C>A (p.Pro645His) c.3284C>A (p.Pro1095His) c.2912C>A (p.Pro971His) c.3275C>A (p.Pro1092His) c.2576C>A (p.Pro859His) c.3323C>A (p.Pro1108His) | |
| 16 | g.3758895G>A | CA394569504 | CREBBP | c.3328C>T (p.Pro1110Ser) c.3214C>T (p.Pro1072Ser) c.1933C>T (p.Pro645Ser) c.3283C>T (p.Pro1095Ser) c.2911C>T (p.Pro971Ser) c.3274C>T (p.Pro1092Ser) c.2575C>T (p.Pro859Ser) c.3322C>T (p.Pro1108Ser) | |
| 16 | g.3758895G>C | CA394569505 | CREBBP | c.3328C>G (p.Pro1110Ala) c.3214C>G (p.Pro1072Ala) c.1933C>G (p.Pro645Ala) c.3283C>G (p.Pro1095Ala) c.2911C>G (p.Pro971Ala) c.3274C>G (p.Pro1092Ala) c.2575C>G (p.Pro859Ala) c.3322C>G (p.Pro1108Ala) | |
| 16 | g.3758895G>T | CA394569506 | CREBBP | c.3328C>A (p.Pro1110Thr) c.3214C>A (p.Pro1072Thr) c.1933C>A (p.Pro645Thr) c.3283C>A (p.Pro1095Thr) c.2911C>A (p.Pro971Thr) c.3274C>A (p.Pro1092Thr) c.2575C>A (p.Pro859Thr) c.3322C>A (p.Pro1108Thr) | |
| 16 | g.3758896T>A | CA394569507 | CREBBP | c.3327A>T (p.Leu1109Phe) c.3213A>T (p.Leu1071Phe) c.1932A>T (p.Leu644Phe) c.3282A>T (p.Leu1094Phe) c.2910A>T (p.Leu970Phe) c.3273A>T (p.Leu1091Phe) c.2574A>T (p.Leu858Phe) c.3321A>T (p.Leu1107Phe) | |
| 16 | g.3758896T>C | CA493285380 | CREBBP | c.3327A>G (p.Leu1109=) c.3213A>G (p.Leu1071=) c.1932A>G (p.Leu644=) c.3282A>G (p.Leu1094=) c.2910A>G (p.Leu970=) c.3273A>G (p.Leu1091=) c.2574A>G (p.Leu858=) c.3321A>G (p.Leu1107=) | |
| 16 | g.3758896T>G | CA394569508 | CREBBP | c.3327A>C (p.Leu1109Phe) c.3213A>C (p.Leu1071Phe) c.1932A>C (p.Leu644Phe) c.3282A>C (p.Leu1094Phe) c.2910A>C (p.Leu970Phe) c.3273A>C (p.Leu1091Phe) c.2574A>C (p.Leu858Phe) c.3321A>C (p.Leu1107Phe) | dbSNP |
| 16 | g.3758896T= | CA2202944193 | CREBBP | c.3327A= (p.Leu1109=) c.3213A= (p.Leu1071=) c.1932A= (p.Leu644=) c.3282A= (p.Leu1094=) c.2910A= (p.Leu970=) c.3273A= (p.Leu1091=) c.2574A= (p.Leu858=) c.3321A= (p.Leu1107=) | |
| 16 | g.3758897A>C | CA394569510 | CREBBP | c.3326T>G (p.Leu1109Ter) c.3212T>G (p.Leu1071Ter) c.1931T>G (p.Leu644Ter) c.3281T>G (p.Leu1094Ter) c.2909T>G (p.Leu970Ter) c.3272T>G (p.Leu1091Ter) c.2573T>G (p.Leu858Ter) c.3320T>G (p.Leu1107Ter) | |
| 16 | g.3758897A>G | CA394569511 | CREBBP | c.3326T>C (p.Leu1109Ser) c.3212T>C (p.Leu1071Ser) c.1931T>C (p.Leu644Ser) c.3281T>C (p.Leu1094Ser) c.2909T>C (p.Leu970Ser) c.3272T>C (p.Leu1091Ser) c.2573T>C (p.Leu858Ser) c.3320T>C (p.Leu1107Ser) | |
| 16 | g.3758897A>T | CA394569509 | CREBBP | c.3326T>A (p.Leu1109Ter) c.3212T>A (p.Leu1071Ter) c.1931T>A (p.Leu644Ter) c.3281T>A (p.Leu1094Ter) c.2909T>A (p.Leu970Ter) c.3272T>A (p.Leu1091Ter) c.2573T>A (p.Leu858Ter) c.3320T>A (p.Leu1107Ter) | COSMIC |
| 16 | g.3758898A>C | CA394569512 | CREBBP | c.3325T>G (p.Leu1109Val) c.3211T>G (p.Leu1071Val) c.1930T>G (p.Leu644Val) c.3280T>G (p.Leu1094Val) c.2908T>G (p.Leu970Val) c.3271T>G (p.Leu1091Val) c.2572T>G (p.Leu858Val) c.3319T>G (p.Leu1107Val) | |
| 16 | g.3758898A>G | CA493285385 | CREBBP | c.3325T>C (p.Leu1109=) c.3211T>C (p.Leu1071=) c.1930T>C (p.Leu644=) c.3280T>C (p.Leu1094=) c.2908T>C (p.Leu970=) c.3271T>C (p.Leu1091=) c.2572T>C (p.Leu858=) c.3319T>C (p.Leu1107=) | |
| 16 | g.3758898A>T | CA394569513 | CREBBP | c.3325T>A (p.Leu1109Ile) c.3211T>A (p.Leu1071Ile) c.1930T>A (p.Leu644Ile) c.3280T>A (p.Leu1094Ile) c.2908T>A (p.Leu970Ile) c.3271T>A (p.Leu1091Ile) c.2572T>A (p.Leu858Ile) c.3319T>A (p.Leu1107Ile) | |
| 16 | g.3758899T>A | CA493285386 | CREBBP | c.3324A>T (p.Ser1108=) c.3210A>T (p.Ser1070=) c.1929A>T (p.Ser643=) c.3279A>T (p.Ser1093=) c.2907A>T (p.Ser969=) c.3270A>T (p.Ser1090=) c.2571A>T (p.Ser857=) c.3318A>T (p.Ser1106=) | |
| 16 | g.3758899T>C | CA493285387 | CREBBP | c.3324A>G (p.Ser1108=) c.3210A>G (p.Ser1070=) c.1929A>G (p.Ser643=) c.3279A>G (p.Ser1093=) c.2907A>G (p.Ser969=) c.3270A>G (p.Ser1090=) c.2571A>G (p.Ser857=) c.3318A>G (p.Ser1106=) | gnomAD v4 |
| 16 | g.3758899T>G | CA493285388 | CREBBP | c.3324A>C (p.Ser1108=) c.3210A>C (p.Ser1070=) c.1929A>C (p.Ser643=) c.3279A>C (p.Ser1093=) c.2907A>C (p.Ser969=) c.3270A>C (p.Ser1090=) c.2571A>C (p.Ser857=) c.3318A>C (p.Ser1106=) |