UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.47122186A= | CA1362417969 | SETD2 | c.2318T= (p.Met773=) c.2351T= (p.Met784=) c.330T= c.391T= c.614T= (p.Met205=) c.72-24105T= (n.72-24105T=) c.2450T= (p.Met817=) c.2065T= c.1602T= c.1350T= c.2528T= (p.Met843=) c.2474T= (p.Met825=) n.2543T= n.2631T= n.2503T= n.2379T= n.2639T= | |
| 3 | g.47122186A>C | CA2363530 | SETD2 | c.2318T>G (p.Met773Arg) c.2351T>G (p.Met784Arg) c.330T>G c.391T>G c.614T>G (p.Met205Arg) c.72-24105T>G (n.72-24105T>G) c.2450T>G (p.Met817Arg) c.2065T>G c.1602T>G c.1350T>G c.2528T>G (p.Met843Arg) c.2474T>G (p.Met825Arg) n.2543T>G n.2631T>G n.2503T>G n.2379T>G n.2639T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47122186A>G | CA162104 | SETD2 | c.2318T>C (p.Met773Thr) c.2351T>C (p.Met784Thr) c.330T>C c.391T>C c.614T>C (p.Met205Thr) c.72-24105T>C (n.72-24105T>C) c.2450T>C (p.Met817Thr) c.2065T>C c.1602T>C c.1350T>C c.2528T>C (p.Met843Thr) c.2474T>C (p.Met825Thr) n.2543T>C n.2631T>C n.2503T>C n.2379T>C n.2639T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47122186A>T | CA352526426 | SETD2 | c.2318T>A (p.Met773Lys) c.2351T>A (p.Met784Lys) c.330T>A c.391T>A c.614T>A (p.Met205Lys) c.72-24105T>A (n.72-24105T>A) c.2450T>A (p.Met817Lys) c.2065T>A c.1602T>A c.1350T>A c.2528T>A (p.Met843Lys) c.2474T>A (p.Met825Lys) n.2543T>A n.2631T>A n.2503T>A n.2379T>A n.2639T>A | dbSNP |
| 3 | g.47122187T>A | CA352526428 | SETD2 | c.2317A>T (p.Met773Leu) c.2350A>T (p.Met784Leu) c.329A>T c.390A>T c.613A>T (p.Met205Leu) c.72-24106A>T (n.72-24106A>T) c.2449A>T (p.Met817Leu) c.2064A>T c.1601A>T c.1349A>T c.2527A>T (p.Met843Leu) c.2473A>T (p.Met825Leu) n.2542A>T n.2630A>T n.2502A>T n.2378A>T n.2638A>T | gnomAD v4 |
| 3 | g.47122187T>C | CA352526430 | SETD2 | c.2317A>G (p.Met773Val) c.2350A>G (p.Met784Val) c.329A>G c.390A>G c.613A>G (p.Met205Val) c.72-24106A>G (n.72-24106A>G) c.2449A>G (p.Met817Val) c.2064A>G c.1601A>G c.1349A>G c.2527A>G (p.Met843Val) c.2473A>G (p.Met825Val) n.2542A>G n.2630A>G n.2502A>G n.2378A>G n.2638A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47122187T>G | CA352526431 | SETD2 | c.2317A>C (p.Met773Leu) c.2350A>C (p.Met784Leu) c.329A>C c.390A>C c.613A>C (p.Met205Leu) c.72-24106A>C (n.72-24106A>C) c.2449A>C (p.Met817Leu) c.2064A>C c.1601A>C c.1349A>C c.2527A>C (p.Met843Leu) c.2473A>C (p.Met825Leu) n.2542A>C n.2630A>C n.2502A>C n.2378A>C n.2638A>C | |
| 3 | g.47122187T= | CA1362417971 | SETD2 | c.2317A= (p.Met773=) c.2350A= (p.Met784=) c.329A= c.390A= c.613A= (p.Met205=) c.72-24106A= (n.72-24106A=) c.2449A= (p.Met817=) c.2064A= c.1601A= c.1349A= c.2527A= (p.Met843=) c.2473A= (p.Met825=) n.2542A= n.2630A= n.2502A= n.2378A= n.2638A= | |
| 3 | g.47122188A= | CA1362417973 | SETD2 | c.2316T= (p.Val772=) c.2349T= (p.Val783=) c.328T= c.389T= c.612T= (p.Val204=) c.72-24107T= (n.72-24107T=) c.2448T= (p.Val816=) c.2063T= c.1600T= c.1348T= c.2526T= (p.Val842=) c.2472T= (p.Val824=) n.2541T= n.2629T= n.2501T= n.2377T= n.2637T= | |
| 3 | g.47122188A>C | CA433601953 | SETD2 | c.2316T>G (p.Val772=) c.2349T>G (p.Val783=) c.328T>G c.389T>G c.612T>G (p.Val204=) c.72-24107T>G (n.72-24107T>G) c.2448T>G (p.Val816=) c.2063T>G c.1600T>G c.1348T>G c.2526T>G (p.Val842=) c.2472T>G (p.Val824=) n.2541T>G n.2629T>G n.2501T>G n.2377T>G n.2637T>G | dbSNP gnomAD v2 |
| 3 | g.47122188A>G | CA433601956 | SETD2 | c.2316T>C (p.Val772=) c.2349T>C (p.Val783=) c.328T>C c.389T>C c.612T>C (p.Val204=) c.72-24107T>C (n.72-24107T>C) c.2448T>C (p.Val816=) c.2063T>C c.1600T>C c.1348T>C c.2526T>C (p.Val842=) c.2472T>C (p.Val824=) n.2541T>C n.2629T>C n.2501T>C n.2377T>C n.2637T>C | dbSNP |
| 3 | g.47122188A>T | CA433601958 | SETD2 | c.2316T>A (p.Val772=) c.2349T>A (p.Val783=) c.328T>A c.389T>A c.612T>A (p.Val204=) c.72-24107T>A (n.72-24107T>A) c.2448T>A (p.Val816=) c.2063T>A c.1600T>A c.1348T>A c.2526T>A (p.Val842=) c.2472T>A (p.Val824=) n.2541T>A n.2629T>A n.2501T>A n.2377T>A n.2637T>A | dbSNP |
| 3 | g.47122189A= | CA1362417975 | SETD2 | c.2315T= (p.Val772=) c.2348T= (p.Val783=) c.327T= c.388T= c.611T= (p.Val204=) c.72-24108T= (n.72-24108T=) c.2447T= (p.Val816=) c.2062T= c.1599T= c.1347T= c.2525T= (p.Val842=) c.2471T= (p.Val824=) n.2540T= n.2628T= n.2500T= n.2376T= n.2636T= | |
| 3 | g.47122189A>C | CA352526433 | SETD2 | c.2315T>G (p.Val772Gly) c.2348T>G (p.Val783Gly) c.327T>G c.388T>G c.611T>G (p.Val204Gly) c.72-24108T>G (n.72-24108T>G) c.2447T>G (p.Val816Gly) c.2062T>G c.1599T>G c.1347T>G c.2525T>G (p.Val842Gly) c.2471T>G (p.Val824Gly) n.2540T>G n.2628T>G n.2500T>G n.2376T>G n.2636T>G | |
| 3 | g.47122189A>G | CA352526434 | SETD2 | c.2315T>C (p.Val772Ala) c.2348T>C (p.Val783Ala) c.327T>C c.388T>C c.611T>C (p.Val204Ala) c.72-24108T>C (n.72-24108T>C) c.2447T>C (p.Val816Ala) c.2062T>C c.1599T>C c.1347T>C c.2525T>C (p.Val842Ala) c.2471T>C (p.Val824Ala) n.2540T>C n.2628T>C n.2500T>C n.2376T>C n.2636T>C | dbSNP |
| 3 | g.47122189A>T | CA2363531 | SETD2 | c.2315T>A (p.Val772Asp) c.2348T>A (p.Val783Asp) c.327T>A c.388T>A c.611T>A (p.Val204Asp) c.72-24108T>A (n.72-24108T>A) c.2447T>A (p.Val816Asp) c.2062T>A c.1599T>A c.1347T>A c.2525T>A (p.Val842Asp) c.2471T>A (p.Val824Asp) n.2540T>A n.2628T>A n.2500T>A n.2376T>A n.2636T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47122190C>A | CA352526440 | SETD2 | c.2314G>T (p.Val772Phe) c.2347G>T (p.Val783Phe) c.326G>T c.387G>T c.610G>T (p.Val204Phe) c.72-24109G>T (n.72-24109G>T) c.2446G>T (p.Val816Phe) c.2061G>T c.1598G>T c.1346G>T c.2524G>T (p.Val842Phe) c.2470G>T (p.Val824Phe) n.2539G>T n.2627G>T n.2499G>T n.2375G>T n.2635G>T | dbSNP |
| 3 | g.47122190C= | CA1362417977 | SETD2 | c.2314G= (p.Val772=) c.2347G= (p.Val783=) c.326G= c.387G= c.610G= (p.Val204=) c.72-24109G= (n.72-24109G=) c.2446G= (p.Val816=) c.2061G= c.1598G= c.1346G= c.2524G= (p.Val842=) c.2470G= (p.Val824=) n.2539G= n.2627G= n.2499G= n.2375G= n.2635G= | |
| 3 | g.47122190C>G | CA352526438 | SETD2 | c.2314G>C (p.Val772Leu) c.2347G>C (p.Val783Leu) c.326G>C c.387G>C c.610G>C (p.Val204Leu) c.72-24109G>C (n.72-24109G>C) c.2446G>C (p.Val816Leu) c.2061G>C c.1598G>C c.1346G>C c.2524G>C (p.Val842Leu) c.2470G>C (p.Val824Leu) n.2539G>C n.2627G>C n.2499G>C n.2375G>C n.2635G>C | dbSNP |
| 3 | g.47122190C>T | CA352526437 | SETD2 | c.2314G>A (p.Val772Ile) c.2347G>A (p.Val783Ile) c.326G>A c.387G>A c.610G>A (p.Val204Ile) c.72-24109G>A (n.72-24109G>A) c.2446G>A (p.Val816Ile) c.2061G>A c.1598G>A c.1346G>A c.2524G>A (p.Val842Ile) c.2470G>A (p.Val824Ile) n.2539G>A n.2627G>A n.2499G>A n.2375G>A n.2635G>A | dbSNP |
| 3 | g.47122191T>A | CA433601961 | SETD2 | c.2313A>T (p.Ser771=) c.2346A>T (p.Ser782=) c.325A>T c.386A>T c.609A>T (p.Ser203=) c.72-24110A>T (n.72-24110A>T) c.2445A>T (p.Ser815=) c.2060A>T c.1597A>T c.1345A>T c.2523A>T (p.Ser841=) c.2469A>T (p.Ser823=) n.2538A>T n.2626A>T n.2498A>T n.2374A>T n.2634A>T | dbSNP gnomAD v4 |
| 3 | g.47122191T>C | CA2363532 | SETD2 | c.2313A>G (p.Ser771=) c.2346A>G (p.Ser782=) c.325A>G c.386A>G c.609A>G (p.Ser203=) c.72-24110A>G (n.72-24110A>G) c.2445A>G (p.Ser815=) c.2060A>G c.1597A>G c.1345A>G c.2523A>G (p.Ser841=) c.2469A>G (p.Ser823=) n.2538A>G n.2626A>G n.2498A>G n.2374A>G n.2634A>G | dbSNP ExAC gnomAD v2 |
| 3 | g.47122191T>G | CA433601960 | SETD2 | c.2313A>C (p.Ser771=) c.2346A>C (p.Ser782=) c.325A>C c.386A>C c.609A>C (p.Ser203=) c.72-24110A>C (n.72-24110A>C) c.2445A>C (p.Ser815=) c.2060A>C c.1597A>C c.1345A>C c.2523A>C (p.Ser841=) c.2469A>C (p.Ser823=) n.2538A>C n.2626A>C n.2498A>C n.2374A>C n.2634A>C | |
| 3 | g.47122191T= | CA1362417979 | SETD2 | c.2313A= (p.Ser771=) c.2346A= (p.Ser782=) c.325A= c.386A= c.609A= (p.Ser203=) c.72-24110A= (n.72-24110A=) c.2445A= (p.Ser815=) c.2060A= c.1597A= c.1345A= c.2523A= (p.Ser841=) c.2469A= (p.Ser823=) n.2538A= n.2626A= n.2498A= n.2374A= n.2634A= | |
| 3 | g.47122192G>A | CA352526443 | SETD2 | c.2312C>T (p.Ser771Leu) c.2345C>T (p.Ser782Leu) c.324C>T c.385C>T c.608C>T (p.Ser203Leu) c.72-24111C>T (n.72-24111C>T) c.2444C>T (p.Ser815Leu) c.2059C>T c.1596C>T c.1344C>T c.2522C>T (p.Ser841Leu) c.2468C>T (p.Ser823Leu) n.2537C>T n.2625C>T n.2497C>T n.2373C>T n.2633C>T | dbSNP |
| 3 | g.47122192G>C | CA352526446 | SETD2 | c.2312C>G (p.Ser771Ter) c.2345C>G (p.Ser782Ter) c.324C>G c.385C>G c.608C>G (p.Ser203Ter) c.72-24111C>G (n.72-24111C>G) c.2444C>G (p.Ser815Ter) c.2059C>G c.1596C>G c.1344C>G c.2522C>G (p.Ser841Ter) c.2468C>G (p.Ser823Ter) n.2537C>G n.2625C>G n.2497C>G n.2373C>G n.2633C>G | |
| 3 | g.47122192G>T | CA352526444 | SETD2 | c.2312C>A (p.Ser771Ter) c.2345C>A (p.Ser782Ter) c.324C>A c.385C>A c.608C>A (p.Ser203Ter) c.72-24111C>A (n.72-24111C>A) c.2444C>A (p.Ser815Ter) c.2059C>A c.1596C>A c.1344C>A c.2522C>A (p.Ser841Ter) c.2468C>A (p.Ser823Ter) n.2537C>A n.2625C>A n.2497C>A n.2373C>A n.2633C>A | COSMIC COSMIC |
| 3 | g.47122193A= | CA1362417981 | SETD2 | c.2311T= (p.Ser771=) c.2344T= (p.Ser782=) c.323T= c.384T= c.607T= (p.Ser203=) c.72-24112T= (n.72-24112T=) c.2443T= (p.Ser815=) c.2058T= c.1595T= c.1343T= c.2521T= (p.Ser841=) c.2467T= (p.Ser823=) n.2536T= n.2624T= n.2496T= n.2372T= n.2632T= | |
| 3 | g.47122193A>C | CA352526449 | SETD2 | c.2311T>G (p.Ser771Ala) c.2344T>G (p.Ser782Ala) c.323T>G c.384T>G c.607T>G (p.Ser203Ala) c.72-24112T>G (n.72-24112T>G) c.2443T>G (p.Ser815Ala) c.2058T>G c.1595T>G c.1343T>G c.2521T>G (p.Ser841Ala) c.2467T>G (p.Ser823Ala) n.2536T>G n.2624T>G n.2496T>G n.2372T>G n.2632T>G | dbSNP |
| 3 | g.47122193A>G | CA352526451 | SETD2 | c.2311T>C (p.Ser771Pro) c.2344T>C (p.Ser782Pro) c.323T>C c.384T>C c.607T>C (p.Ser203Pro) c.72-24112T>C (n.72-24112T>C) c.2443T>C (p.Ser815Pro) c.2058T>C c.1595T>C c.1343T>C c.2521T>C (p.Ser841Pro) c.2467T>C (p.Ser823Pro) n.2536T>C n.2624T>C n.2496T>C n.2372T>C n.2632T>C | dbSNP |
| 3 | g.47122193A>T | CA352526450 | SETD2 | c.2311T>A (p.Ser771Thr) c.2344T>A (p.Ser782Thr) c.323T>A c.384T>A c.607T>A (p.Ser203Thr) c.72-24112T>A (n.72-24112T>A) c.2443T>A (p.Ser815Thr) c.2058T>A c.1595T>A c.1343T>A c.2521T>A (p.Ser841Thr) c.2467T>A (p.Ser823Thr) n.2536T>A n.2624T>A n.2496T>A n.2372T>A n.2632T>A | dbSNP |
| 3 | g.47122194A= | CA1362417983 | SETD2 | c.2310T= (p.Pro770=) c.2343T= (p.Pro781=) c.322T= c.383T= c.606T= (p.Pro202=) c.72-24113T= (n.72-24113T=) c.2442T= (p.Pro814=) c.2057T= c.1594T= c.1342T= c.2520T= (p.Pro840=) c.2466T= (p.Pro822=) n.2535T= n.2623T= n.2495T= n.2371T= n.2631T= | |
| 3 | g.47122194A>C | CA433601966 | SETD2 | c.2310T>G (p.Pro770=) c.2343T>G (p.Pro781=) c.322T>G c.383T>G c.606T>G (p.Pro202=) c.72-24113T>G (n.72-24113T>G) c.2442T>G (p.Pro814=) c.2057T>G c.1594T>G c.1342T>G c.2520T>G (p.Pro840=) c.2466T>G (p.Pro822=) n.2535T>G n.2623T>G n.2495T>G n.2371T>G n.2631T>G | |
| 3 | g.47122194A>G | CA433601965 | SETD2 | c.2310T>C (p.Pro770=) c.2343T>C (p.Pro781=) c.322T>C c.383T>C c.606T>C (p.Pro202=) c.72-24113T>C (n.72-24113T>C) c.2442T>C (p.Pro814=) c.2057T>C c.1594T>C c.1342T>C c.2520T>C (p.Pro840=) c.2466T>C (p.Pro822=) n.2535T>C n.2623T>C n.2495T>C n.2371T>C n.2631T>C | dbSNP |
| 3 | g.47122194A>T | CA433601964 | SETD2 | c.2310T>A (p.Pro770=) c.2343T>A (p.Pro781=) c.322T>A c.383T>A c.606T>A (p.Pro202=) c.72-24113T>A (n.72-24113T>A) c.2442T>A (p.Pro814=) c.2057T>A c.1594T>A c.1342T>A c.2520T>A (p.Pro840=) c.2466T>A (p.Pro822=) n.2535T>A n.2623T>A n.2495T>A n.2371T>A n.2631T>A | dbSNP |
| 3 | g.47122195G>A | CA2363533 | SETD2 | c.2309C>T (p.Pro770Leu) c.2342C>T (p.Pro781Leu) c.321C>T c.382C>T c.605C>T (p.Pro202Leu) c.72-24114C>T (n.72-24114C>T) c.2441C>T (p.Pro814Leu) c.2056C>T c.1593C>T c.1341C>T c.2519C>T (p.Pro840Leu) c.2465C>T (p.Pro822Leu) n.2534C>T n.2622C>T n.2494C>T n.2370C>T n.2630C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47122195G>C | CA352526454 | SETD2 | c.2309C>G (p.Pro770Arg) c.2342C>G (p.Pro781Arg) c.321C>G c.382C>G c.605C>G (p.Pro202Arg) c.72-24114C>G (n.72-24114C>G) c.2441C>G (p.Pro814Arg) c.2056C>G c.1593C>G c.1341C>G c.2519C>G (p.Pro840Arg) c.2465C>G (p.Pro822Arg) n.2534C>G n.2622C>G n.2494C>G n.2370C>G n.2630C>G | dbSNP |
| 3 | g.47122195G= | CA1362417985 | SETD2 | c.2309C= (p.Pro770=) c.2342C= (p.Pro781=) c.321C= c.382C= c.605C= (p.Pro202=) c.72-24114C= (n.72-24114C=) c.2441C= (p.Pro814=) c.2056C= c.1593C= c.1341C= c.2519C= (p.Pro840=) c.2465C= (p.Pro822=) n.2534C= n.2622C= n.2494C= n.2370C= n.2630C= | |
| 3 | g.47122195G>T | CA352526455 | SETD2 | c.2309C>A (p.Pro770His) c.2342C>A (p.Pro781His) c.321C>A c.382C>A c.605C>A (p.Pro202His) c.72-24114C>A (n.72-24114C>A) c.2441C>A (p.Pro814His) c.2056C>A c.1593C>A c.1341C>A c.2519C>A (p.Pro840His) c.2465C>A (p.Pro822His) n.2534C>A n.2622C>A n.2494C>A n.2370C>A n.2630C>A | dbSNP |
| 3 | g.47122196G>A | CA352526457 | SETD2 | c.2308C>T (p.Pro770Ser) c.2341C>T (p.Pro781Ser) c.320C>T c.381C>T c.604C>T (p.Pro202Ser) c.72-24115C>T (n.72-24115C>T) c.2440C>T (p.Pro814Ser) c.2055C>T c.1592C>T c.1340C>T c.2518C>T (p.Pro840Ser) c.2464C>T (p.Pro822Ser) n.2533C>T n.2621C>T n.2493C>T n.2369C>T n.2629C>T | dbSNP gnomAD v4 |
| 3 | g.47122196G>C | CA352526458 | SETD2 | c.2308C>G (p.Pro770Ala) c.2341C>G (p.Pro781Ala) c.320C>G c.381C>G c.604C>G (p.Pro202Ala) c.72-24115C>G (n.72-24115C>G) c.2440C>G (p.Pro814Ala) c.2055C>G c.1592C>G c.1340C>G c.2518C>G (p.Pro840Ala) c.2464C>G (p.Pro822Ala) n.2533C>G n.2621C>G n.2493C>G n.2369C>G n.2629C>G | dbSNP |
| 3 | g.47122196G= | CA1362417987 | SETD2 | c.2308C= (p.Pro770=) c.2341C= (p.Pro781=) c.320C= c.381C= c.604C= (p.Pro202=) c.72-24115C= (n.72-24115C=) c.2440C= (p.Pro814=) c.2055C= c.1592C= c.1340C= c.2518C= (p.Pro840=) c.2464C= (p.Pro822=) n.2533C= n.2621C= n.2493C= n.2369C= n.2629C= | |
| 3 | g.47122196G>T | CA352526460 | SETD2 | c.2308C>A (p.Pro770Thr) c.2341C>A (p.Pro781Thr) c.320C>A c.381C>A c.604C>A (p.Pro202Thr) c.72-24115C>A (n.72-24115C>A) c.2440C>A (p.Pro814Thr) c.2055C>A c.1592C>A c.1340C>A c.2518C>A (p.Pro840Thr) c.2464C>A (p.Pro822Thr) n.2533C>A n.2621C>A n.2493C>A n.2369C>A n.2629C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47122197C>A | CA352526462 | SETD2 | c.2307G>T (p.Glu769Asp) c.2340G>T (p.Glu780Asp) c.319G>T c.380G>T c.603G>T (p.Glu201Asp) c.72-24116G>T (n.72-24116G>T) c.2439G>T (p.Glu813Asp) c.2054G>T c.1591G>T c.1339G>T c.2517G>T (p.Glu839Asp) c.2463G>T (p.Glu821Asp) n.2532G>T n.2620G>T n.2492G>T n.2368G>T n.2628G>T | dbSNP |
| 3 | g.47122197C>G | CA352526464 | SETD2 | c.2307G>C (p.Glu769Asp) c.2340G>C (p.Glu780Asp) c.319G>C c.380G>C c.603G>C (p.Glu201Asp) c.72-24116G>C (n.72-24116G>C) c.2439G>C (p.Glu813Asp) c.2054G>C c.1591G>C c.1339G>C c.2517G>C (p.Glu839Asp) c.2463G>C (p.Glu821Asp) n.2532G>C n.2620G>C n.2492G>C n.2368G>C n.2628G>C | dbSNP |
| 3 | g.47122197C>T | CA433601970 | SETD2 | c.2307G>A (p.Glu769=) c.2340G>A (p.Glu780=) c.319G>A c.380G>A c.603G>A (p.Glu201=) c.72-24116G>A (n.72-24116G>A) c.2439G>A (p.Glu813=) c.2054G>A c.1591G>A c.1339G>A c.2517G>A (p.Glu839=) c.2463G>A (p.Glu821=) n.2532G>A n.2620G>A n.2492G>A n.2368G>A n.2628G>A | dbSNP |
| 3 | g.47122198T>A | CA352526465 | SETD2 | c.2306A>T (p.Glu769Val) c.2339A>T (p.Glu780Val) c.318A>T c.379A>T c.602A>T (p.Glu201Val) c.72-24117A>T (n.72-24117A>T) c.2438A>T (p.Glu813Val) c.2053A>T c.1590A>T c.1338A>T c.2516A>T (p.Glu839Val) c.2462A>T (p.Glu821Val) n.2531A>T n.2619A>T n.2491A>T n.2367A>T n.2627A>T | dbSNP |
| 3 | g.47122198T>C | CA352526466 | SETD2 | c.2306A>G (p.Glu769Gly) c.2339A>G (p.Glu780Gly) c.318A>G c.379A>G c.602A>G (p.Glu201Gly) c.72-24117A>G (n.72-24117A>G) c.2438A>G (p.Glu813Gly) c.2053A>G c.1590A>G c.1338A>G c.2516A>G (p.Glu839Gly) c.2462A>G (p.Glu821Gly) n.2531A>G n.2619A>G n.2491A>G n.2367A>G n.2627A>G | dbSNP |
| 3 | g.47122198T>G | CA352526467 | SETD2 | c.2306A>C (p.Glu769Ala) c.2339A>C (p.Glu780Ala) c.318A>C c.379A>C c.602A>C (p.Glu201Ala) c.72-24117A>C (n.72-24117A>C) c.2438A>C (p.Glu813Ala) c.2053A>C c.1590A>C c.1338A>C c.2516A>C (p.Glu839Ala) c.2462A>C (p.Glu821Ala) n.2531A>C n.2619A>C n.2491A>C n.2367A>C n.2627A>C | |
| 3 | g.47122199C>A | CA352526468 | SETD2 | c.2305G>T (p.Glu769Ter) c.2338G>T (p.Glu780Ter) c.317G>T c.378G>T c.601G>T (p.Glu201Ter) c.72-24118G>T (n.72-24118G>T) c.2437G>T (p.Glu813Ter) c.2052G>T c.1589G>T c.1337G>T c.2515G>T (p.Glu839Ter) c.2461G>T (p.Glu821Ter) n.2530G>T n.2618G>T n.2490G>T n.2366G>T n.2626G>T |