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 |
|---|---|---|---|---|---|
| 20 | g.51788940T>A | CA409006611 | SALL4 | c.2663A>T (p.His888Leu) c.332A>T (p.His111Leu) c.1352A>T (p.His451Leu) c.2357A>T (p.His786Leu) c.2537A>T (p.His846Leu) | |
| 20 | g.51788940T>C | CA340062 | SALL4 | c.2663A>G (p.His888Arg) c.332A>G (p.His111Arg) c.1352A>G (p.His451Arg) c.2357A>G (p.His786Arg) c.2537A>G (p.His846Arg) | ClinVar dbSNP |
| 20 | g.51788940T>G | CA409006612 | SALL4 | c.2663A>C (p.His888Pro) c.332A>C (p.His111Pro) c.1352A>C (p.His451Pro) c.2357A>C (p.His786Pro) c.2537A>C (p.His846Pro) | |
| 20 | g.51788940T= | CA2369157342 | SALL4 | c.2663A= (p.His888=) c.332A= (p.His111=) c.1352A= (p.His451=) c.2357A= (p.His786=) c.2537A= (p.His846=) | |
| 20 | g.51788941G>A | CA409006613 | SALL4 | c.2662C>T (p.His888Tyr) c.331C>T (p.His111Tyr) c.1351C>T (p.His451Tyr) c.2356C>T (p.His786Tyr) c.2536C>T (p.His846Tyr) | |
| 20 | g.51788941G>C | CA409006614 | SALL4 | c.2662C>G (p.His888Asp) c.331C>G (p.His111Asp) c.1351C>G (p.His451Asp) c.2356C>G (p.His786Asp) c.2536C>G (p.His846Asp) | |
| 20 | g.51788941G>T | CA409006615 | SALL4 | c.2662C>A (p.His888Asn) c.331C>A (p.His111Asn) c.1351C>A (p.His451Asn) c.2356C>A (p.His786Asn) c.2536C>A (p.His846Asn) | |
| 20 | g.51788942G>A | CA315370874 | SALL4 | c.2661C>T (p.Ile887=) c.330C>T (p.Ile110=) c.1350C>T (p.Ile450=) c.2355C>T (p.Ile785=) c.2535C>T (p.Ile845=) | dbSNP gnomAD v4 |
| 20 | g.51788942G>C | CA409006616 | SALL4 | c.2661C>G (p.Ile887Met) c.330C>G (p.Ile110Met) c.1350C>G (p.Ile450Met) c.2355C>G (p.Ile785Met) c.2535C>G (p.Ile845Met) | |
| 20 | g.51788942G= | CA2369157343 | SALL4 | c.2661C= (p.Ile887=) c.330C= (p.Ile110=) c.1350C= (p.Ile450=) c.2355C= (p.Ile785=) c.2535C= (p.Ile845=) | |
| 20 | g.51788942G>T | CA511025832 | SALL4 | c.2661C>A (p.Ile887=) c.330C>A (p.Ile110=) c.1350C>A (p.Ile450=) c.2355C>A (p.Ile785=) c.2535C>A (p.Ile845=) | |
| 20 | g.51788943A>C | CA409006617 | SALL4 | c.2660T>G (p.Ile887Ser) c.329T>G (p.Ile110Ser) c.1349T>G (p.Ile450Ser) c.2354T>G (p.Ile785Ser) c.2534T>G (p.Ile845Ser) | |
| 20 | g.51788943A>G | CA409006618 | SALL4 | c.2660T>C (p.Ile887Thr) c.329T>C (p.Ile110Thr) c.1349T>C (p.Ile450Thr) c.2354T>C (p.Ile785Thr) c.2534T>C (p.Ile845Thr) | |
| 20 | g.51788943A>T | CA409006619 | SALL4 | c.2660T>A (p.Ile887Asn) c.329T>A (p.Ile110Asn) c.1349T>A (p.Ile450Asn) c.2354T>A (p.Ile785Asn) c.2534T>A (p.Ile845Asn) | |
| 20 | g.51788944T>A | CA409006620 | SALL4 | c.2659A>T (p.Ile887Phe) c.328A>T (p.Ile110Phe) c.1348A>T (p.Ile450Phe) c.2353A>T (p.Ile785Phe) c.2533A>T (p.Ile845Phe) | |
| 20 | g.51788944T>C | CA409006621 | SALL4 | c.2659A>G (p.Ile887Val) c.328A>G (p.Ile110Val) c.1348A>G (p.Ile450Val) c.2353A>G (p.Ile785Val) c.2533A>G (p.Ile845Val) | |
| 20 | g.51788944T>G | CA409006622 | SALL4 | c.2659A>C (p.Ile887Leu) c.328A>C (p.Ile110Leu) c.1348A>C (p.Ile450Leu) c.2353A>C (p.Ile785Leu) c.2533A>C (p.Ile845Leu) | |
| 20 | g.51788945C>A | CA409006623 | SALL4 | c.2658G>T (p.Gln886His) c.327G>T (p.Gln109His) c.1347G>T (p.Gln449His) c.2352G>T (p.Gln784His) c.2532G>T (p.Gln844His) | gnomAD v4 |
| 20 | g.51788945C= | CA2369157344 | SALL4 | c.2658G= (p.Gln886=) c.327G= (p.Gln109=) c.1347G= (p.Gln449=) c.2352G= (p.Gln784=) c.2532G= (p.Gln844=) | |
| 20 | g.51788945C>G | CA315370881 | SALL4 | c.2658G>C (p.Gln886His) c.327G>C (p.Gln109His) c.1347G>C (p.Gln449His) c.2352G>C (p.Gln784His) c.2532G>C (p.Gln844His) | dbSNP gnomAD v4 |
| 20 | g.51788945C>T | CA511025838 | SALL4 | c.2658G>A (p.Gln886=) c.327G>A (p.Gln109=) c.1347G>A (p.Gln449=) c.2352G>A (p.Gln784=) c.2532G>A (p.Gln844=) | |
| 20 | g.51788946T>A | CA409006624 | SALL4 | c.2657A>T (p.Gln886Leu) c.326A>T (p.Gln109Leu) c.1346A>T (p.Gln449Leu) c.2351A>T (p.Gln784Leu) c.2531A>T (p.Gln844Leu) | COSMIC |
| 20 | g.51788946T>C | CA409006625 | SALL4 | c.2657A>G (p.Gln886Arg) c.326A>G (p.Gln109Arg) c.1346A>G (p.Gln449Arg) c.2351A>G (p.Gln784Arg) c.2531A>G (p.Gln844Arg) | |
| 20 | g.51788946T>G | CA409006626 | SALL4 | c.2657A>C (p.Gln886Pro) c.326A>C (p.Gln109Pro) c.1346A>C (p.Gln449Pro) c.2351A>C (p.Gln784Pro) c.2531A>C (p.Gln844Pro) | |
| 20 | g.51788947G>A | CA409006627 | SALL4 | c.2656C>T (p.Gln886Ter) c.325C>T (p.Gln109Ter) c.1345C>T (p.Gln449Ter) c.2350C>T (p.Gln784Ter) c.2530C>T (p.Gln844Ter) | |
| 20 | g.51788947G>C | CA409006628 | SALL4 | c.2656C>G (p.Gln886Glu) c.325C>G (p.Gln109Glu) c.1345C>G (p.Gln449Glu) c.2350C>G (p.Gln784Glu) c.2530C>G (p.Gln844Glu) | |
| 20 | g.51788947G>T | CA409006629 | SALL4 | c.2656C>A (p.Gln886Lys) c.325C>A (p.Gln109Lys) c.1345C>A (p.Gln449Lys) c.2350C>A (p.Gln784Lys) c.2530C>A (p.Gln844Lys) | |
| 20 | g.51788948A>C | CA511025840 | SALL4 | c.2655T>G (p.Leu885=) c.324T>G (p.Leu108=) c.1344T>G (p.Leu448=) c.2349T>G (p.Leu783=) c.2529T>G (p.Leu843=) | |
| 20 | g.51788948A>G | CA511025841 | SALL4 | c.2655T>C (p.Leu885=) c.324T>C (p.Leu108=) c.1344T>C (p.Leu448=) c.2349T>C (p.Leu783=) c.2529T>C (p.Leu843=) | |
| 20 | g.51788948A>T | CA511025842 | SALL4 | c.2655T>A (p.Leu885=) c.324T>A (p.Leu108=) c.1344T>A (p.Leu448=) c.2349T>A (p.Leu783=) c.2529T>A (p.Leu843=) | |
| 20 | g.51788949A>C | CA409006630 | SALL4 | c.2654T>G (p.Leu885Arg) c.323T>G (p.Leu108Arg) c.1343T>G (p.Leu448Arg) c.2348T>G (p.Leu783Arg) c.2528T>G (p.Leu843Arg) | |
| 20 | g.51788949A>G | CA409006631 | SALL4 | c.2654T>C (p.Leu885Pro) c.323T>C (p.Leu108Pro) c.1343T>C (p.Leu448Pro) c.2348T>C (p.Leu783Pro) c.2528T>C (p.Leu843Pro) | |
| 20 | g.51788949A>T | CA409006632 | SALL4 | c.2654T>A (p.Leu885His) c.323T>A (p.Leu108His) c.1343T>A (p.Leu448His) c.2348T>A (p.Leu783His) c.2528T>A (p.Leu843His) | |
| 20 | g.51788950G>A | CA409006633 | SALL4 | c.2653C>T (p.Leu885Phe) c.322C>T (p.Leu108Phe) c.1342C>T (p.Leu448Phe) c.2347C>T (p.Leu783Phe) c.2527C>T (p.Leu843Phe) | |
| 20 | g.51788950G>C | CA409006634 | SALL4 | c.2653C>G (p.Leu885Val) c.322C>G (p.Leu108Val) c.1342C>G (p.Leu448Val) c.2347C>G (p.Leu783Val) c.2527C>G (p.Leu843Val) | gnomAD v4 |
| 20 | g.51788950G>T | CA409006635 | SALL4 | c.2653C>A (p.Leu885Ile) c.322C>A (p.Leu108Ile) c.1342C>A (p.Leu448Ile) c.2347C>A (p.Leu783Ile) c.2527C>A (p.Leu843Ile) | |
| 20 | g.51788951A= | CA2369157345 | SALL4 | c.2652T= (p.Ala884=) c.321T= (p.Ala107=) c.1341T= (p.Ala447=) c.2346T= (p.Ala782=) c.2526T= (p.Ala842=) | |
| 20 | g.51788951A>C | CA511025846 | SALL4 | c.2652T>G (p.Ala884=) c.321T>G (p.Ala107=) c.1341T>G (p.Ala447=) c.2346T>G (p.Ala782=) c.2526T>G (p.Ala842=) | |
| 20 | g.51788951A>G | CA9912036 | SALL4 | c.2652T>C (p.Ala884=) c.321T>C (p.Ala107=) c.1341T>C (p.Ala447=) c.2346T>C (p.Ala782=) c.2526T>C (p.Ala842=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51788951A>T | CA511025847 | SALL4 | c.2652T>A (p.Ala884=) c.321T>A (p.Ala107=) c.1341T>A (p.Ala447=) c.2346T>A (p.Ala782=) c.2526T>A (p.Ala842=) | |
| 20 | g.51788952G>A | CA409006637 | SALL4 | c.2651C>T (p.Ala884Val) c.320C>T (p.Ala107Val) c.1340C>T (p.Ala447Val) c.2345C>T (p.Ala782Val) c.2525C>T (p.Ala842Val) | |
| 20 | g.51788952G>C | CA409006638 | SALL4 | c.2651C>G (p.Ala884Gly) c.320C>G (p.Ala107Gly) c.1340C>G (p.Ala447Gly) c.2345C>G (p.Ala782Gly) c.2525C>G (p.Ala842Gly) | |
| 20 | g.51788952G>T | CA409006636 | SALL4 | c.2651C>A (p.Ala884Asp) c.320C>A (p.Ala107Asp) c.1340C>A (p.Ala447Asp) c.2345C>A (p.Ala782Asp) c.2525C>A (p.Ala842Asp) | |
| 20 | g.51788953C>A | CA409006640 | SALL4 | c.2650G>T (p.Ala884Ser) c.319G>T (p.Ala107Ser) c.1339G>T (p.Ala447Ser) c.2344G>T (p.Ala782Ser) c.2524G>T (p.Ala842Ser) | |
| 20 | g.51788953C= | CA2369157346 | SALL4 | c.2650G= (p.Ala884=) c.319G= (p.Ala107=) c.1339G= (p.Ala447=) c.2344G= (p.Ala782=) c.2524G= (p.Ala842=) | |
| 20 | g.51788953C>G | CA409006639 | SALL4 | c.2650G>C (p.Ala884Pro) c.319G>C (p.Ala107Pro) c.1339G>C (p.Ala447Pro) c.2344G>C (p.Ala782Pro) c.2524G>C (p.Ala842Pro) | |
| 20 | g.51788953C>T | CA9912037 | SALL4 | c.2650G>A (p.Ala884Thr) c.319G>A (p.Ala107Thr) c.1339G>A (p.Ala447Thr) c.2344G>A (p.Ala782Thr) c.2524G>A (p.Ala842Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51788954G>A | CA9912038 | SALL4 | c.2649C>T (p.Ser883=) c.318C>T (p.Ser106=) c.1338C>T (p.Ser446=) c.2343C>T (p.Ser781=) c.2523C>T (p.Ser841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51788954G>C | CA409006641 | SALL4 | c.2649C>G (p.Ser883Arg) c.318C>G (p.Ser106Arg) c.1338C>G (p.Ser446Arg) c.2343C>G (p.Ser781Arg) c.2523C>G (p.Ser841Arg) | |
| 20 | g.51788954G= | CA2369157347 | SALL4 | c.2649C= (p.Ser883=) c.318C= (p.Ser106=) c.1338C= (p.Ser446=) c.2343C= (p.Ser781=) c.2523C= (p.Ser841=) |