Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139648G>A | CA8053075 | SALL1 | c.2574C>T (p.Leu858=) c.2283C>T (p.Leu761=) c.77-2096C>T (n.77-2096C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139648G>C | CA495780330 | SALL1 | c.2574C>G (p.Leu858=) c.2283C>G (p.Leu761=) c.77-2096C>G (n.77-2096C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139648G= | CA2222018416 | SALL1 | c.2574C= (p.Leu858=) c.2283C= (p.Leu761=) c.77-2096C= (n.77-2096C=) | |
16 | g.51139648G>T | CA8053076 | SALL1 | c.2574C>A (p.Leu858=) c.2283C>A (p.Leu761=) c.77-2096C>A (n.77-2096C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139648_51139649delinsTT | CA2499223540 | SALL1 | c.2573_2574delinsAA (p.Leu858Gln) c.2282_2283delinsAA (p.Leu761Gln) c.77-2097_77-2096delinsAA (n.77-2097_77-2096delinsAA) | ClinVar dbSNP |
16 | g.51139649A= | CA2222018422 | SALL1 | c.2573T= (p.Leu858=) c.2282T= (p.Leu761=) c.77-2097T= (n.77-2097T=) | |
16 | g.51139649A>C | CA395884456 | SALL1 | c.2573T>G (p.Leu858Arg) c.2282T>G (p.Leu761Arg) c.77-2097T>G (n.77-2097T>G) | |
16 | g.51139649A>G | CA395884457 | SALL1 | c.2573T>C (p.Leu858Pro) c.2282T>C (p.Leu761Pro) c.77-2097T>C (n.77-2097T>C) | |
16 | g.51139649A>T | CA8053077 | SALL1 | c.2573T>A (p.Leu858His) c.2282T>A (p.Leu761His) c.77-2097T>A (n.77-2097T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139650G>A | CA395884462 | SALL1 | c.2572C>T (p.Leu858Phe) c.2281C>T (p.Leu761Phe) c.77-2098C>T (n.77-2098C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.51139650G>C | CA395884463 | SALL1 | c.2572C>G (p.Leu858Val) c.2281C>G (p.Leu761Val) c.77-2098C>G (n.77-2098C>G) | |
16 | g.51139650G= | CA2222018425 | SALL1 | c.2572C= (p.Leu858=) c.2281C= (p.Leu761=) c.77-2098C= (n.77-2098C=) | |
16 | g.51139650G>T | CA395884460 | SALL1 | c.2572C>A (p.Leu858Ile) c.2281C>A (p.Leu761Ile) c.77-2098C>A (n.77-2098C>A) | |
16 | g.51139651G>A | CA495780331 | SALL1 | c.2571C>T (p.Pro857=) c.2280C>T (p.Pro760=) c.77-2099C>T (n.77-2099C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139651G>C | CA495780332 | SALL1 | c.2571C>G (p.Pro857=) c.2280C>G (p.Pro760=) c.77-2099C>G (n.77-2099C>G) | gnomAD v4 |
16 | g.51139651G= | CA2222018427 | SALL1 | c.2571C= (p.Pro857=) c.2280C= (p.Pro760=) c.77-2099C= (n.77-2099C=) | |
16 | g.51139651G>T | CA495780333 | SALL1 | c.2571C>A (p.Pro857=) c.2280C>A (p.Pro760=) c.77-2099C>A (n.77-2099C>A) | |
16 | g.51139652G>A | CA395884465 | SALL1 | c.2570C>T (p.Pro857Leu) c.2279C>T (p.Pro760Leu) c.77-2100C>T (n.77-2100C>T) | |
16 | g.51139652G>C | CA395884467 | SALL1 | c.2570C>G (p.Pro857Arg) c.2279C>G (p.Pro760Arg) c.77-2100C>G (n.77-2100C>G) | |
16 | g.51139652G>T | CA395884468 | SALL1 | c.2570C>A (p.Pro857His) c.2279C>A (p.Pro760His) c.77-2100C>A (n.77-2100C>A) | |
16 | g.51139653G>A | CA395884469 | SALL1 | c.2569C>T (p.Pro857Ser) c.2278C>T (p.Pro760Ser) c.77-2101C>T (n.77-2101C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139653G>C | CA395884470 | SALL1 | c.2569C>G (p.Pro857Ala) c.2278C>G (p.Pro760Ala) c.77-2101C>G (n.77-2101C>G) | |
16 | g.51139653G= | CA2222018429 | SALL1 | c.2569C= (p.Pro857=) c.2278C= (p.Pro760=) c.77-2101C= (n.77-2101C=) | |
16 | g.51139653G>T | CA395884473 | SALL1 | c.2569C>A (p.Pro857Thr) c.2278C>A (p.Pro760Thr) c.77-2101C>A (n.77-2101C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139654C>A | CA395884474 | SALL1 | c.2568G>T (p.Leu856Phe) c.2277G>T (p.Leu759Phe) c.77-2102G>T (n.77-2102G>T) | |
16 | g.51139654C>G | CA395884476 | SALL1 | c.2568G>C (p.Leu856Phe) c.2277G>C (p.Leu759Phe) c.77-2102G>C (n.77-2102G>C) | |
16 | g.51139654C>T | CA495780334 | SALL1 | c.2568G>A (p.Leu856=) c.2277G>A (p.Leu759=) c.77-2102G>A (n.77-2102G>A) | |
16 | g.51139655A>C | CA395884478 | SALL1 | c.2567T>G (p.Leu856Trp) c.2276T>G (p.Leu759Trp) c.77-2103T>G (n.77-2103T>G) | |
16 | g.51139655A>G | CA395884479 | SALL1 | c.2567T>C (p.Leu856Ser) c.2276T>C (p.Leu759Ser) c.77-2103T>C (n.77-2103T>C) | |
16 | g.51139655A>T | CA395884481 | SALL1 | c.2567T>A (p.Leu856Ter) c.2276T>A (p.Leu759Ter) c.77-2103T>A (n.77-2103T>A) | |
16 | g.51139656A>C | CA395884482 | SALL1 | c.2566T>G (p.Leu856Val) c.2275T>G (p.Leu759Val) c.77-2104T>G (n.77-2104T>G) | |
16 | g.51139656A>G | CA495780335 | SALL1 | c.2566T>C (p.Leu856=) c.2275T>C (p.Leu759=) c.77-2104T>C (n.77-2104T>C) | |
16 | g.51139656A>T | CA395884484 | SALL1 | c.2566T>A (p.Leu856Met) c.2275T>A (p.Leu759Met) c.77-2104T>A (n.77-2104T>A) | |
16 | g.51139657A= | CA2222018431 | SALL1 | c.2565T= (p.Pro855=) c.2274T= (p.Pro758=) c.77-2105T= (n.77-2105T=) | |
16 | g.51139657A>C | CA8053078 | SALL1 | c.2565T>G (p.Pro855=) c.2274T>G (p.Pro758=) c.77-2105T>G (n.77-2105T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139657A>G | CA495780336 | SALL1 | c.2565T>C (p.Pro855=) c.2274T>C (p.Pro758=) c.77-2105T>C (n.77-2105T>C) | |
16 | g.51139657A>T | CA495780337 | SALL1 | c.2565T>A (p.Pro855=) c.2274T>A (p.Pro758=) c.77-2105T>A (n.77-2105T>A) | |
16 | g.51139658G>A | CA395884488 | SALL1 | c.2564C>T (p.Pro855Leu) c.2273C>T (p.Pro758Leu) c.77-2106C>T (n.77-2106C>T) | gnomAD v4 |
16 | g.51139658G>C | CA395884489 | SALL1 | c.2564C>G (p.Pro855Arg) c.2273C>G (p.Pro758Arg) c.77-2106C>G (n.77-2106C>G) | |
16 | g.51139658G>T | CA395884487 | SALL1 | c.2564C>A (p.Pro855His) c.2273C>A (p.Pro758His) c.77-2106C>A (n.77-2106C>A) | |
16 | g.51139659G>A | CA8053079 | SALL1 | c.2563C>T (p.Pro855Ser) c.2272C>T (p.Pro758Ser) c.77-2107C>T (n.77-2107C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139659G>C | CA395884494 | SALL1 | c.2563C>G (p.Pro855Ala) c.2272C>G (p.Pro758Ala) c.77-2107C>G (n.77-2107C>G) | |
16 | g.51139659G= | CA2222018434 | SALL1 | c.2563C= (p.Pro855=) c.2272C= (p.Pro758=) c.77-2107C= (n.77-2107C=) | |
16 | g.51139659G>T | CA395884492 | SALL1 | c.2563C>A (p.Pro855Thr) c.2272C>A (p.Pro758Thr) c.77-2107C>A (n.77-2107C>A) | |
16 | g.51139660C>A | CA495780338 | SALL1 | c.2562G>T (p.Ser854=) c.2271G>T (p.Ser757=) c.77-2108G>T (n.77-2108G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139660C= | CA2222018439 | SALL1 | c.2562G= (p.Ser854=) c.2271G= (p.Ser757=) c.77-2108G= (n.77-2108G=) | |
16 | g.51139660C>G | CA495780339 | SALL1 | c.2562G>C (p.Ser854=) c.2271G>C (p.Ser757=) c.77-2108G>C (n.77-2108G>C) | dbSNP |
16 | g.51139660C>T | CA8053080 | SALL1 | c.2562G>A (p.Ser854=) c.2271G>A (p.Ser757=) c.77-2108G>A (n.77-2108G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139661G>A | CA8053081 | SALL1 | c.2561C>T (p.Ser854Leu) c.2270C>T (p.Ser757Leu) c.77-2109C>T (n.77-2109C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.51139661G>C | CA395884497 | SALL1 | c.2561C>G (p.Ser854Trp) c.2270C>G (p.Ser757Trp) c.77-2109C>G (n.77-2109C>G) |