Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
16 | g.51139661G= | CA2222018443 | SALL1 | c.2561C= (p.Ser854=) c.2270C= (p.Ser757=) c.77-2109C= (n.77-2109C=) | |
16 | g.51139661G>T | CA395884499 | SALL1 | c.2561C>A (p.Ser854Ter) c.2270C>A (p.Ser757Ter) c.77-2109C>A (n.77-2109C>A) | |
16 | g.51139662A>C | CA395884500 | SALL1 | c.2560T>G (p.Ser854Ala) c.2269T>G (p.Ser757Ala) c.77-2110T>G (n.77-2110T>G) | |
16 | g.51139662A>G | CA395884502 | SALL1 | c.2560T>C (p.Ser854Pro) c.2269T>C (p.Ser757Pro) c.77-2110T>C (n.77-2110T>C) | |
16 | g.51139662A>T | CA395884503 | SALL1 | c.2560T>A (p.Ser854Thr) c.2269T>A (p.Ser757Thr) c.77-2110T>A (n.77-2110T>A) | |
16 | g.51139663A= | CA2222018445 | SALL1 | c.2559T= (p.Ser853=) c.2268T= (p.Ser756=) c.77-2111T= (n.77-2111T=) | |
16 | g.51139663A>C | CA495780341 | SALL1 | c.2559T>G (p.Ser853=) c.2268T>G (p.Ser756=) c.77-2111T>G (n.77-2111T>G) | COSMIC |
16 | g.51139663A>G | CA8053082 | SALL1 | c.2559T>C (p.Ser853=) c.2268T>C (p.Ser756=) c.77-2111T>C (n.77-2111T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139663A>T | CA495780340 | SALL1 | c.2559T>A (p.Ser853=) c.2268T>A (p.Ser756=) c.77-2111T>A (n.77-2111T>A) | |
16 | g.51139664G>A | CA281301242 | SALL1 | c.2558C>T (p.Ser853Phe) c.2267C>T (p.Ser756Phe) c.77-2112C>T (n.77-2112C>T) | dbSNP |
16 | g.51139664G>C | CA395884506 | SALL1 | c.2558C>G (p.Ser853Cys) c.2267C>G (p.Ser756Cys) c.77-2112C>G (n.77-2112C>G) | dbSNP |
16 | g.51139664G= | CA2222018449 | SALL1 | c.2558C= (p.Ser853=) c.2267C= (p.Ser756=) c.77-2112C= (n.77-2112C=) | |
16 | g.51139664G>T | CA395884508 | SALL1 | c.2558C>A (p.Ser853Tyr) c.2267C>A (p.Ser756Tyr) c.77-2112C>A (n.77-2112C>A) | |
16 | g.51139665A= | CA2222018450 | SALL1 | c.2557T= (p.Ser853=) c.2266T= (p.Ser756=) c.77-2113T= (n.77-2113T=) | |
16 | g.51139665A>C | CA8053083 | SALL1 | c.2557T>G (p.Ser853Ala) c.2266T>G (p.Ser756Ala) c.77-2113T>G (n.77-2113T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139665A>G | CA395884512 | SALL1 | c.2557T>C (p.Ser853Pro) c.2266T>C (p.Ser756Pro) c.77-2113T>C (n.77-2113T>C) | |
16 | g.51139665A>T | CA395884510 | SALL1 | c.2557T>A (p.Ser853Thr) c.2266T>A (p.Ser756Thr) c.77-2113T>A (n.77-2113T>A) | |
16 | g.51139666G>A | CA495780342 | SALL1 | c.2556C>T (p.Ser852=) c.2265C>T (p.Ser755=) c.77-2114C>T (n.77-2114C>T) | dbSNP gnomAD v4 COSMIC |
16 | g.51139666G>C | CA495780343 | SALL1 | c.2556C>G (p.Ser852=) c.2265C>G (p.Ser755=) c.77-2114C>G (n.77-2114C>G) | |
16 | g.51139666G= | CA2222018457 | SALL1 | c.2556C= (p.Ser852=) c.2265C= (p.Ser755=) c.77-2114C= (n.77-2114C=) | |
16 | g.51139666G>T | CA495780344 | SALL1 | c.2556C>A (p.Ser852=) c.2265C>A (p.Ser755=) c.77-2114C>A (n.77-2114C>A) | |
16 | g.51139667G>A | CA395884514 | SALL1 | c.2555C>T (p.Ser852Phe) c.2264C>T (p.Ser755Phe) c.77-2115C>T (n.77-2115C>T) | gnomAD v4 |
16 | g.51139667G>C | CA395884515 | SALL1 | c.2555C>G (p.Ser852Cys) c.2264C>G (p.Ser755Cys) c.77-2115C>G (n.77-2115C>G) | ClinVar |
16 | g.51139667G= | CA2222018460 | SALL1 | c.2555C= (p.Ser852=) c.2264C= (p.Ser755=) c.77-2115C= (n.77-2115C=) | |
16 | g.51139667G>T | CA395884517 | SALL1 | c.2555C>A (p.Ser852Tyr) c.2264C>A (p.Ser755Tyr) c.77-2115C>A (n.77-2115C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139668A>C | CA395884518 | SALL1 | c.2554T>G (p.Ser852Ala) c.2263T>G (p.Ser755Ala) c.77-2116T>G (n.77-2116T>G) | |
16 | g.51139668A>G | CA395884519 | SALL1 | c.2554T>C (p.Ser852Pro) c.2263T>C (p.Ser755Pro) c.77-2116T>C (n.77-2116T>C) | |
16 | g.51139668A>T | CA395884521 | SALL1 | c.2554T>A (p.Ser852Thr) c.2263T>A (p.Ser755Thr) c.77-2116T>A (n.77-2116T>A) | |
16 | g.51139669T>A | CA395884522 | SALL1 | c.2553A>T (p.Leu851Phe) c.2262A>T (p.Leu754Phe) c.77-2117A>T (n.77-2117A>T) | |
16 | g.51139669T>C | CA495780345 | SALL1 | c.2553A>G (p.Leu851=) c.2262A>G (p.Leu754=) c.77-2117A>G (n.77-2117A>G) | gnomAD v4 |
16 | g.51139669T>G | CA395884524 | SALL1 | c.2553A>C (p.Leu851Phe) c.2262A>C (p.Leu754Phe) c.77-2117A>C (n.77-2117A>C) | |
16 | g.51139670A>C | CA395884526 | SALL1 | c.2552T>G (p.Leu851Ter) c.2261T>G (p.Leu754Ter) c.77-2118T>G (n.77-2118T>G) | |
16 | g.51139670A>G | CA395884527 | SALL1 | c.2552T>C (p.Leu851Ser) c.2261T>C (p.Leu754Ser) c.77-2118T>C (n.77-2118T>C) | gnomAD v4 |
16 | g.51139670A>T | CA395884529 | SALL1 | c.2552T>A (p.Leu851Ter) c.2261T>A (p.Leu754Ter) c.77-2118T>A (n.77-2118T>A) | |
16 | g.51139671A= | CA2222018464 | SALL1 | c.2551T= (p.Leu851=) c.2260T= (p.Leu754=) c.77-2119T= (n.77-2119T=) | |
16 | g.51139671A>C | CA8053085 | SALL1 | c.2551T>G (p.Leu851Val) c.2260T>G (p.Leu754Val) c.77-2119T>G (n.77-2119T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139671A>G | CA495780346 | SALL1 | c.2551T>C (p.Leu851=) c.2260T>C (p.Leu754=) c.77-2119T>C (n.77-2119T>C) | |
16 | g.51139671A>T | CA8053084 | SALL1 | c.2551T>A (p.Leu851Ile) c.2260T>A (p.Leu754Ile) c.77-2119T>A (n.77-2119T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139672G>A | CA495780347 | SALL1 | c.2550C>T (p.Ser850=) c.2259C>T (p.Ser753=) c.77-2120C>T (n.77-2120C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139672G>C | CA395884532 | SALL1 | c.2550C>G (p.Ser850Arg) c.2259C>G (p.Ser753Arg) c.77-2120C>G (n.77-2120C>G) | |
16 | g.51139672G= | CA2222018472 | SALL1 | c.2550C= (p.Ser850=) c.2259C= (p.Ser753=) c.77-2120C= (n.77-2120C=) | |
16 | g.51139672G>T | CA395884533 | SALL1 | c.2550C>A (p.Ser850Arg) c.2259C>A (p.Ser753Arg) c.77-2120C>A (n.77-2120C>A) | |
16 | g.51139673C>A | CA395884535 | SALL1 | c.2549G>T (p.Ser850Ile) c.2258G>T (p.Ser753Ile) c.77-2121G>T (n.77-2121G>T) | |
16 | g.51139673C= | CA2222018480 | SALL1 | c.2549G= (p.Ser850=) c.2258G= (p.Ser753=) c.77-2121G= (n.77-2121G=) | |
16 | g.51139673C>G | CA241488 | SALL1 | c.2549G>C (p.Ser850Thr) c.2258G>C (p.Ser753Thr) c.77-2121G>C (n.77-2121G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139673C>T | CA395884538 | SALL1 | c.2549G>A (p.Ser850Asn) c.2258G>A (p.Ser753Asn) c.77-2121G>A (n.77-2121G>A) | |
16 | g.51139674T>A | CA395884539 | SALL1 | c.2548A>T (p.Ser850Cys) c.2257A>T (p.Ser753Cys) c.77-2122A>T (n.77-2122A>T) | |
16 | g.51139674T>C | CA395884541 | SALL1 | c.2548A>G (p.Ser850Gly) c.2257A>G (p.Ser753Gly) c.77-2122A>G (n.77-2122A>G) | |
16 | g.51139674T>G | CA395884542 | SALL1 | c.2548A>C (p.Ser850Arg) c.2257A>C (p.Ser753Arg) c.77-2122A>C (n.77-2122A>C) | |
16 | g.51139675G>A | CA8053086 | SALL1 | c.2547C>T (p.Asp849=) c.2256C>T (p.Asp752=) c.77-2123C>T (n.77-2123C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139675G>C | CA395884545 | SALL1 | c.2547C>G (p.Asp849Glu) c.2256C>G (p.Asp752Glu) c.77-2123C>G (n.77-2123C>G) | |
16 | g.51139675G= | CA2222018486 | SALL1 | c.2547C= (p.Asp849=) c.2256C= (p.Asp752=) c.77-2123C= (n.77-2123C=) | |
16 | g.51139675G>T | CA395884546 | SALL1 | c.2547C>A (p.Asp849Glu) c.2256C>A (p.Asp752Glu) c.77-2123C>A (n.77-2123C>A) | |
16 | g.51139676T>A | CA395884547 | SALL1 | c.2546A>T (p.Asp849Val) c.2255A>T (p.Asp752Val) c.77-2124A>T (n.77-2124A>T) | |
16 | g.51139676T>C | CA395884549 | SALL1 | c.2546A>G (p.Asp849Gly) c.2255A>G (p.Asp752Gly) c.77-2124A>G (n.77-2124A>G) | |
16 | g.51139676T>G | CA395884550 | SALL1 | c.2546A>C (p.Asp849Ala) c.2255A>C (p.Asp752Ala) c.77-2124A>C (n.77-2124A>C) | |
16 | g.51139677C>A | CA395884555 | SALL1 | c.2545G>T (p.Asp849Tyr) c.2254G>T (p.Asp752Tyr) c.77-2125G>T (n.77-2125G>T) | COSMIC |
16 | g.51139677C>G | CA395884554 | SALL1 | c.2545G>C (p.Asp849His) c.2254G>C (p.Asp752His) c.77-2125G>C (n.77-2125G>C) | |
16 | g.51139677C>T | CA395884552 | SALL1 | c.2545G>A (p.Asp849Asn) c.2254G>A (p.Asp752Asn) c.77-2125G>A (n.77-2125G>A) | |
16 | g.51139678T>A | CA395884557 | SALL1 | c.2544A>T (p.Gln848His) c.2253A>T (p.Gln751His) c.77-2126A>T (n.77-2126A>T) | |
16 | g.51139678T>C | CA8053087 | SALL1 | c.2544A>G (p.Gln848=) c.2253A>G (p.Gln751=) c.77-2126A>G (n.77-2126A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139678T>G | CA395884559 | SALL1 | c.2544A>C (p.Gln848His) c.2253A>C (p.Gln751His) c.77-2126A>C (n.77-2126A>C) | |
16 | g.51139678T= | CA2222018491 | SALL1 | c.2544A= (p.Gln848=) c.2253A= (p.Gln751=) c.77-2126A= (n.77-2126A=) | |
16 | g.51139679T>A | CA395884561 | SALL1 | c.2543A>T (p.Gln848Leu) c.2252A>T (p.Gln751Leu) c.77-2127A>T (n.77-2127A>T) | |
16 | g.51139679T>C | CA395884562 | SALL1 | c.2543A>G (p.Gln848Arg) c.2252A>G (p.Gln751Arg) c.77-2127A>G (n.77-2127A>G) | |
16 | g.51139679T>G | CA395884564 | SALL1 | c.2543A>C (p.Gln848Pro) c.2252A>C (p.Gln751Pro) c.77-2127A>C (n.77-2127A>C) | |
16 | g.51139680G>A | CA395884566 | SALL1 | c.2542C>T (p.Gln848Ter) c.2251C>T (p.Gln751Ter) c.77-2128C>T (n.77-2128C>T) | |
16 | g.51139680G>C | CA395884568 | SALL1 | c.2542C>G (p.Gln848Glu) c.2251C>G (p.Gln751Glu) c.77-2128C>G (n.77-2128C>G) | |
16 | g.51139680G>T | CA395884569 | SALL1 | c.2542C>A (p.Gln848Lys) c.2251C>A (p.Gln751Lys) c.77-2128C>A (n.77-2128C>A) | |
16 | g.51139681G>A | CA495780348 | SALL1 | c.2541C>T (p.Ser847=) c.2250C>T (p.Ser750=) c.77-2129C>T (n.77-2129C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139681G>C | CA495780349 | SALL1 | c.2541C>G (p.Ser847=) c.2250C>G (p.Ser750=) c.77-2129C>G (n.77-2129C>G) | |
16 | g.51139681G= | CA2222018495 | SALL1 | c.2541C= (p.Ser847=) c.2250C= (p.Ser750=) c.77-2129C= (n.77-2129C=) | |
16 | g.51139681G>T | CA495780350 | SALL1 | c.2541C>A (p.Ser847=) c.2250C>A (p.Ser750=) c.77-2129C>A (n.77-2129C>A) | gnomAD v4 |
16 | g.51139682G>A | CA395884571 | SALL1 | c.2540C>T (p.Ser847Phe) c.2249C>T (p.Ser750Phe) c.77-2130C>T (n.77-2130C>T) | |
16 | g.51139682G>C | CA395884572 | SALL1 | c.2540C>G (p.Ser847Cys) c.2249C>G (p.Ser750Cys) c.77-2130C>G (n.77-2130C>G) | |
16 | g.51139682G>T | CA395884574 | SALL1 | c.2540C>A (p.Ser847Tyr) c.2249C>A (p.Ser750Tyr) c.77-2130C>A (n.77-2130C>A) | |
16 | g.51139683A= | CA2222018498 | SALL1 | c.2539T= (p.Ser847=) c.2248T= (p.Ser750=) c.77-2131T= (n.77-2131T=) | |
16 | g.51139683A>C | CA395884575 | SALL1 | c.2539T>G (p.Ser847Ala) c.2248T>G (p.Ser750Ala) c.77-2131T>G (n.77-2131T>G) | |
16 | g.51139683A>G | CA395884578 | SALL1 | c.2539T>C (p.Ser847Pro) c.2248T>C (p.Ser750Pro) c.77-2131T>C (n.77-2131T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139683A>T | CA395884577 | SALL1 | c.2539T>A (p.Ser847Thr) c.2248T>A (p.Ser750Thr) c.77-2131T>A (n.77-2131T>A) | |
16 | g.51139684G>A | CA495780351 | SALL1 | c.2538C>T (p.Ala846=) c.2247C>T (p.Ala749=) c.77-2132C>T (n.77-2132C>T) | |
16 | g.51139684G>C | CA495780352 | SALL1 | c.2538C>G (p.Ala846=) c.2247C>G (p.Ala749=) c.77-2132C>G (n.77-2132C>G) | |
16 | g.51139684G>T | CA495780353 | SALL1 | c.2538C>A (p.Ala846=) c.2247C>A (p.Ala749=) c.77-2132C>A (n.77-2132C>A) | |
16 | g.51139685G>A | CA395884580 | SALL1 | c.2537C>T (p.Ala846Val) c.2246C>T (p.Ala749Val) c.77-2133C>T (n.77-2133C>T) | gnomAD v4 COSMIC |
16 | g.51139685G>C | CA395884583 | SALL1 | c.2537C>G (p.Ala846Gly) c.2246C>G (p.Ala749Gly) c.77-2133C>G (n.77-2133C>G) | |
16 | g.51139685G>T | CA395884581 | SALL1 | c.2537C>A (p.Ala846Asp) c.2246C>A (p.Ala749Asp) c.77-2133C>A (n.77-2133C>A) | |
16 | g.51139686C>A | CA395884587 | SALL1 | c.2536G>T (p.Ala846Ser) c.2245G>T (p.Ala749Ser) c.77-2134G>T (n.77-2134G>T) | |
16 | g.51139686C= | CA2222018503 | SALL1 | c.2536G= (p.Ala846=) c.2245G= (p.Ala749=) c.77-2134G= (n.77-2134G=) | |
16 | g.51139686C>G | CA395884589 | SALL1 | c.2536G>C (p.Ala846Pro) c.2245G>C (p.Ala749Pro) c.77-2134G>C (n.77-2134G>C) | |
16 | g.51139686C>T | CA8053088 | SALL1 | c.2536G>A (p.Ala846Thr) c.2245G>A (p.Ala749Thr) c.77-2134G>A (n.77-2134G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.51139687G>A | CA8053089 | SALL1 | c.2535C>T (p.Asp845=) c.2244C>T (p.Asp748=) c.77-2135C>T (n.77-2135C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139687G>C | CA395884592 | SALL1 | c.2535C>G (p.Asp845Glu) c.2244C>G (p.Asp748Glu) c.77-2135C>G (n.77-2135C>G) | |
16 | g.51139687G= | CA2222018505 | SALL1 | c.2535C= (p.Asp845=) c.2244C= (p.Asp748=) c.77-2135C= (n.77-2135C=) | |
16 | g.51139687G>T | CA395884591 | SALL1 | c.2535C>A (p.Asp845Glu) c.2244C>A (p.Asp748Glu) c.77-2135C>A (n.77-2135C>A) | |
16 | g.51139688T>A | CA395884594 | SALL1 | c.2534A>T (p.Asp845Val) c.2243A>T (p.Asp748Val) c.77-2136A>T (n.77-2136A>T) | |
16 | g.51139688T>C | CA395884596 | SALL1 | c.2534A>G (p.Asp845Gly) c.2243A>G (p.Asp748Gly) c.77-2136A>G (n.77-2136A>G) | |
16 | g.51139688T>G | CA395884598 | SALL1 | c.2534A>C (p.Asp845Ala) c.2243A>C (p.Asp748Ala) c.77-2136A>C (n.77-2136A>C) | |
16 | g.51139689C>A | CA395884599 | SALL1 | c.2533G>T (p.Asp845Tyr) c.2242G>T (p.Asp748Tyr) c.77-2137G>T (n.77-2137G>T) | |
16 | g.51139689C>G | CA395884601 | SALL1 | c.2533G>C (p.Asp845His) c.2242G>C (p.Asp748His) c.77-2137G>C (n.77-2137G>C) | dbSNP |
16 | g.51139689C>T | CA395884603 | SALL1 | c.2533G>A (p.Asp845Asn) c.2242G>A (p.Asp748Asn) c.77-2137G>A (n.77-2137G>A) | |
16 | g.51139690T>A | CA495780354 | SALL1 | c.2532A>T (p.Ala844=) c.2241A>T (p.Ala747=) c.77-2138A>T (n.77-2138A>T) | |
16 | g.51139690T>C | CA495780355 | SALL1 | c.2532A>G (p.Ala844=) c.2241A>G (p.Ala747=) c.77-2138A>G (n.77-2138A>G) | |
16 | g.51139690T>G | CA495780356 | SALL1 | c.2532A>C (p.Ala844=) c.2241A>C (p.Ala747=) c.77-2138A>C (n.77-2138A>C) | |
16 | g.51139691G>A | CA395884605 | SALL1 | c.2531C>T (p.Ala844Val) c.2240C>T (p.Ala747Val) c.77-2139C>T (n.77-2139C>T) | gnomAD v4 |
16 | g.51139691G>C | CA395884606 | SALL1 | c.2531C>G (p.Ala844Gly) c.2240C>G (p.Ala747Gly) c.77-2139C>G (n.77-2139C>G) | |
16 | g.51139691G>T | CA395884607 | SALL1 | c.2531C>A (p.Ala844Glu) c.2240C>A (p.Ala747Glu) c.77-2139C>A (n.77-2139C>A) | |
16 | g.51139692C>A | CA395884610 | SALL1 | c.2530G>T (p.Ala844Ser) c.2239G>T (p.Ala747Ser) c.77-2140G>T (n.77-2140G>T) | |
16 | g.51139692C= | CA2222018509 | SALL1 | c.2530G= (p.Ala844=) c.2239G= (p.Ala747=) c.77-2140G= (n.77-2140G=) | |
16 | g.51139692C>G | CA395884611 | SALL1 | c.2530G>C (p.Ala844Pro) c.2239G>C (p.Ala747Pro) c.77-2140G>C (n.77-2140G>C) | |
16 | g.51139692C>T | CA395884612 | SALL1 | c.2530G>A (p.Ala844Thr) c.2239G>A (p.Ala747Thr) c.77-2140G>A (n.77-2140G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139693A= | CA2222018512 | SALL1 | c.2529T= (p.Ser843=) c.2238T= (p.Ser746=) c.77-2141T= (n.77-2141T=) | |
16 | g.51139693A>C | CA8053090 | SALL1 | c.2529T>G (p.Ser843=) c.2238T>G (p.Ser746=) c.77-2141T>G (n.77-2141T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139693A>G | CA495780357 | SALL1 | c.2529T>C (p.Ser843=) c.2238T>C (p.Ser746=) c.77-2141T>C (n.77-2141T>C) | |
16 | g.51139693A>T | CA495780358 | SALL1 | c.2529T>A (p.Ser843=) c.2238T>A (p.Ser746=) c.77-2141T>A (n.77-2141T>A) | |
16 | g.51139694G>A | CA395884616 | SALL1 | c.2528C>T (p.Ser843Phe) c.2237C>T (p.Ser746Phe) c.77-2142C>T (n.77-2142C>T) | dbSNP gnomAD v4 |
16 | g.51139694G>C | CA395884617 | SALL1 | c.2528C>G (p.Ser843Cys) c.2237C>G (p.Ser746Cys) c.77-2142C>G (n.77-2142C>G) | |
16 | g.51139694G= | CA2222018516 | SALL1 | c.2528C= (p.Ser843=) c.2237C= (p.Ser746=) c.77-2142C= (n.77-2142C=) | |
16 | g.51139694G>T | CA395884618 | SALL1 | c.2528C>A (p.Ser843Tyr) c.2237C>A (p.Ser746Tyr) c.77-2142C>A (n.77-2142C>A) | |
16 | g.51139695A>C | CA395884620 | SALL1 | c.2527T>G (p.Ser843Ala) c.2236T>G (p.Ser746Ala) c.77-2143T>G (n.77-2143T>G) | |
16 | g.51139695A>G | CA395884621 | SALL1 | c.2527T>C (p.Ser843Pro) c.2236T>C (p.Ser746Pro) c.77-2143T>C (n.77-2143T>C) | gnomAD v4 |
16 | g.51139695A>T | CA395884623 | SALL1 | c.2527T>A (p.Ser843Thr) c.2236T>A (p.Ser746Thr) c.77-2143T>A (n.77-2143T>A) | |
16 | g.51139696C>A | CA395884625 | SALL1 | c.2526G>T (p.Lys842Asn) c.2235G>T (p.Lys745Asn) c.77-2144G>T (n.77-2144G>T) | |
16 | g.51139696C>G | CA395884626 | SALL1 | c.2526G>C (p.Lys842Asn) c.2235G>C (p.Lys745Asn) c.77-2144G>C (n.77-2144G>C) | |
16 | g.51139696C>T | CA495780359 | SALL1 | c.2526G>A (p.Lys842=) c.2235G>A (p.Lys745=) c.77-2144G>A (n.77-2144G>A) | |
16 | g.51139697T>A | CA395884628 | SALL1 | c.2525A>T (p.Lys842Met) c.2234A>T (p.Lys745Met) c.77-2145A>T (n.77-2145A>T) | |
16 | g.51139697T>C | CA395884629 | SALL1 | c.2525A>G (p.Lys842Arg) c.2234A>G (p.Lys745Arg) c.77-2145A>G (n.77-2145A>G) | |
16 | g.51139697T>G | CA395884630 | SALL1 | c.2525A>C (p.Lys842Thr) c.2234A>C (p.Lys745Thr) c.77-2145A>C (n.77-2145A>C) | |
16 | g.51139698T>A | CA395884634 | SALL1 | c.2524A>T (p.Lys842Ter) c.2233A>T (p.Lys745Ter) c.77-2146A>T (n.77-2146A>T) | |
16 | g.51139698T>C | CA395884633 | SALL1 | c.2524A>G (p.Lys842Glu) c.2233A>G (p.Lys745Glu) c.77-2146A>G (n.77-2146A>G) | |
16 | g.51139698T>G | CA395884632 | SALL1 | c.2524A>C (p.Lys842Gln) c.2233A>C (p.Lys745Gln) c.77-2146A>C (n.77-2146A>C) | |
16 | g.51139699A>C | CA495780360 | SALL1 | c.2523T>G (p.Pro841=) c.2232T>G (p.Pro744=) c.77-2147T>G (n.77-2147T>G) | |
16 | g.51139699A>G | CA495780361 | SALL1 | c.2523T>C (p.Pro841=) c.2232T>C (p.Pro744=) c.77-2147T>C (n.77-2147T>C) | |
16 | g.51139699A>T | CA495780362 | SALL1 | c.2523T>A (p.Pro841=) c.2232T>A (p.Pro744=) c.77-2147T>A (n.77-2147T>A) | |
16 | g.51139700G>A | CA395884637 | SALL1 | c.2522C>T (p.Pro841Leu) c.2231C>T (p.Pro744Leu) c.77-2148C>T (n.77-2148C>T) | dbSNP gnomAD v4 |
16 | g.51139700G>C | CA8053091 | SALL1 | c.2522C>G (p.Pro841Arg) c.2231C>G (p.Pro744Arg) c.77-2148C>G (n.77-2148C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139700G= | CA2222018520 | SALL1 | c.2522C= (p.Pro841=) c.2231C= (p.Pro744=) c.77-2148C= (n.77-2148C=) | |
16 | g.51139700G>T | CA395884638 | SALL1 | c.2522C>A (p.Pro841His) c.2231C>A (p.Pro744His) c.77-2148C>A (n.77-2148C>A) | |
16 | g.51139701G>A | CA395884639 | SALL1 | c.2521C>T (p.Pro841Ser) c.2230C>T (p.Pro744Ser) c.77-2149C>T (n.77-2149C>T) | dbSNP gnomAD v2 |
16 | g.51139701G>C | CA395884640 | SALL1 | c.2521C>G (p.Pro841Ala) c.2230C>G (p.Pro744Ala) c.77-2149C>G (n.77-2149C>G) | gnomAD v4 |
16 | g.51139701G= | CA2222018528 | SALL1 | c.2521C= (p.Pro841=) c.2230C= (p.Pro744=) c.77-2149C= (n.77-2149C=) | |
16 | g.51139701G>T | CA395884641 | SALL1 | c.2521C>A (p.Pro841Thr) c.2230C>A (p.Pro744Thr) c.77-2149C>A (n.77-2149C>A) | |
16 | g.51139702T>A | CA495780363 | SALL1 | c.2520A>T (p.Thr840=) c.2229A>T (p.Thr743=) c.77-2150A>T (n.77-2150A>T) | |
16 | g.51139702T>C | CA495780364 | SALL1 | c.2520A>G (p.Thr840=) c.2229A>G (p.Thr743=) c.77-2150A>G (n.77-2150A>G) | |
16 | g.51139702T>G | CA495780365 | SALL1 | c.2520A>C (p.Thr840=) c.2229A>C (p.Thr743=) c.77-2150A>C (n.77-2150A>C) | |
16 | g.51139703G>A | CA281301251 | SALL1 | c.2519C>T (p.Thr840Ile) c.2228C>T (p.Thr743Ile) c.77-2151C>T (n.77-2151C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139703G>C | CA395884642 | SALL1 | c.2519C>G (p.Thr840Arg) c.2228C>G (p.Thr743Arg) c.77-2151C>G (n.77-2151C>G) | dbSNP |
16 | g.51139703G= | CA2222018531 | SALL1 | c.2519C= (p.Thr840=) c.2228C= (p.Thr743=) c.77-2151C= (n.77-2151C=) | |
16 | g.51139703G>T | CA395884643 | SALL1 | c.2519C>A (p.Thr840Lys) c.2228C>A (p.Thr743Lys) c.77-2151C>A (n.77-2151C>A) | |
16 | g.51139704T>A | CA395884645 | SALL1 | c.2518A>T (p.Thr840Ser) c.2227A>T (p.Thr743Ser) c.77-2152A>T (n.77-2152A>T) | |
16 | g.51139704T>C | CA395884646 | SALL1 | c.2518A>G (p.Thr840Ala) c.2227A>G (p.Thr743Ala) c.77-2152A>G (n.77-2152A>G) | ClinVar dbSNP |
16 | g.51139704T>G | CA395884647 | SALL1 | c.2518A>C (p.Thr840Pro) c.2227A>C (p.Thr743Pro) c.77-2152A>C (n.77-2152A>C) | |
16 | g.51139705A>C | CA395884650 | SALL1 | c.2517T>G (p.Asp839Glu) c.2226T>G (p.Asp742Glu) c.77-2153T>G (n.77-2153T>G) | |
16 | g.51139705A>G | CA495780366 | SALL1 | c.2517T>C (p.Asp839=) c.2226T>C (p.Asp742=) c.77-2153T>C (n.77-2153T>C) | |
16 | g.51139705A>T | CA395884648 | SALL1 | c.2517T>A (p.Asp839Glu) c.2226T>A (p.Asp742Glu) c.77-2153T>A (n.77-2153T>A) | gnomAD v4 |
16 | g.51139706T>A | CA395884652 | SALL1 | c.2516A>T (p.Asp839Val) c.2225A>T (p.Asp742Val) c.77-2154A>T (n.77-2154A>T) | |
16 | g.51139706T>C | CA395884654 | SALL1 | c.2516A>G (p.Asp839Gly) c.2225A>G (p.Asp742Gly) c.77-2154A>G (n.77-2154A>G) | |
16 | g.51139706T>G | CA395884655 | SALL1 | c.2516A>C (p.Asp839Ala) c.2225A>C (p.Asp742Ala) c.77-2154A>C (n.77-2154A>C) | |
16 | g.51139707C>A | CA395884656 | SALL1 | c.2515G>T (p.Asp839Tyr) c.2224G>T (p.Asp742Tyr) c.77-2155G>T (n.77-2155G>T) | COSMIC |
16 | g.51139707C>G | CA395884658 | SALL1 | c.2515G>C (p.Asp839His) c.2224G>C (p.Asp742His) c.77-2155G>C (n.77-2155G>C) | |
16 | g.51139707C>T | CA395884660 | SALL1 | c.2515G>A (p.Asp839Asn) c.2224G>A (p.Asp742Asn) c.77-2155G>A (n.77-2155G>A) | |
16 | g.51139708A>C | CA495780398 | SALL1 | c.2514T>G (p.Pro838=) c.2223T>G (p.Pro741=) c.77-2156T>G (n.77-2156T>G) | |
16 | g.51139708A>G | CA495780400 | SALL1 | c.2514T>C (p.Pro838=) c.2223T>C (p.Pro741=) c.77-2156T>C (n.77-2156T>C) | dbSNP gnomAD v4 |
16 | g.51139708A>T | CA495780401 | SALL1 | c.2514T>A (p.Pro838=) c.2223T>A (p.Pro741=) c.77-2156T>A (n.77-2156T>A) | |
16 | g.51139709G>A | CA395884662 | SALL1 | c.2513C>T (p.Pro838Leu) c.2222C>T (p.Pro741Leu) c.77-2157C>T (n.77-2157C>T) | COSMIC |
16 | g.51139709G>C | CA395884663 | SALL1 | c.2513C>G (p.Pro838Arg) c.2222C>G (p.Pro741Arg) c.77-2157C>G (n.77-2157C>G) | |
16 | g.51139709G>T | CA395884665 | SALL1 | c.2513C>A (p.Pro838His) c.2222C>A (p.Pro741His) c.77-2157C>A (n.77-2157C>A) | |
16 | g.51139710G>A | CA395884667 | SALL1 | c.2512C>T (p.Pro838Ser) c.2221C>T (p.Pro741Ser) c.77-2158C>T (n.77-2158C>T) | |
16 | g.51139710G>C | CA395884668 | SALL1 | c.2512C>G (p.Pro838Ala) c.2221C>G (p.Pro741Ala) c.77-2158C>G (n.77-2158C>G) | gnomAD v4 |
16 | g.51139710G>T | CA395884670 | SALL1 | c.2512C>A (p.Pro838Thr) c.2221C>A (p.Pro741Thr) c.77-2158C>A (n.77-2158C>A) | |
16 | g.51139711G>A | CA495780402 | SALL1 | c.2511C>T (p.Ile837=) c.2220C>T (p.Ile740=) c.77-2159C>T (n.77-2159C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.51139711G>C | CA395884673 | SALL1 | c.2511C>G (p.Ile837Met) c.2220C>G (p.Ile740Met) c.77-2159C>G (n.77-2159C>G) | |
16 | g.51139711G= | CA2222018535 | SALL1 | c.2511C= (p.Ile837=) c.2220C= (p.Ile740=) c.77-2159C= (n.77-2159C=) | |
16 | g.51139711G>T | CA8053092 | SALL1 | c.2511C>A (p.Ile837=) c.2220C>A (p.Ile740=) c.77-2159C>A (n.77-2159C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139712A>C | CA395884674 | SALL1 | c.2510T>G (p.Ile837Ser) c.2219T>G (p.Ile740Ser) c.77-2160T>G (n.77-2160T>G) | |
16 | g.51139712A>G | CA395884676 | SALL1 | c.2510T>C (p.Ile837Thr) c.2219T>C (p.Ile740Thr) c.77-2160T>C (n.77-2160T>C) | |
16 | g.51139712A>T | CA395884677 | SALL1 | c.2510T>A (p.Ile837Asn) c.2219T>A (p.Ile740Asn) c.77-2160T>A (n.77-2160T>A) | COSMIC |
16 | g.51139713T>A | CA395884679 | SALL1 | c.2509A>T (p.Ile837Phe) c.2218A>T (p.Ile740Phe) c.77-2161A>T (n.77-2161A>T) | |
16 | g.51139713T>C | CA395884681 | SALL1 | c.2509A>G (p.Ile837Val) c.2218A>G (p.Ile740Val) c.77-2161A>G (n.77-2161A>G) | |
16 | g.51139713T>G | CA395884682 | SALL1 | c.2509A>C (p.Ile837Leu) c.2218A>C (p.Ile740Leu) c.77-2161A>C (n.77-2161A>C) | gnomAD v4 |
16 | g.51139714G>A | CA495780405 | SALL1 | c.2508C>T (p.Ser836=) c.2217C>T (p.Ser739=) c.77-2162C>T (n.77-2162C>T) | |
16 | g.51139714G>C | CA395884685 | SALL1 | c.2508C>G (p.Ser836Arg) c.2217C>G (p.Ser739Arg) c.77-2162C>G (n.77-2162C>G) | |
16 | g.51139714G>T | CA395884684 | SALL1 | c.2508C>A (p.Ser836Arg) c.2217C>A (p.Ser739Arg) c.77-2162C>A (n.77-2162C>A) | |
16 | g.51139715C>A | CA395884687 | SALL1 | c.2507G>T (p.Ser836Ile) c.2216G>T (p.Ser739Ile) c.77-2163G>T (n.77-2163G>T) | |
16 | g.51139715C>G | CA395884689 | SALL1 | c.2507G>C (p.Ser836Thr) c.2216G>C (p.Ser739Thr) c.77-2163G>C (n.77-2163G>C) | |
16 | g.51139715C>T | CA395884690 | SALL1 | c.2507G>A (p.Ser836Asn) c.2216G>A (p.Ser739Asn) c.77-2163G>A (n.77-2163G>A) | COSMIC |
16 | g.51139716T>A | CA395884691 | SALL1 | c.2506A>T (p.Ser836Cys) c.2215A>T (p.Ser739Cys) c.77-2164A>T (n.77-2164A>T) | |
16 | g.51139716T>C | CA395884692 | SALL1 | c.2506A>G (p.Ser836Gly) c.2215A>G (p.Ser739Gly) c.77-2164A>G (n.77-2164A>G) | |
16 | g.51139716T>G | CA395884693 | SALL1 | c.2506A>C (p.Ser836Arg) c.2215A>C (p.Ser739Arg) c.77-2164A>C (n.77-2164A>C) | |
16 | g.51139717G>A | CA495780408 | SALL1 | c.2505C>T (p.Gly835=) c.2214C>T (p.Gly738=) c.77-2165C>T (n.77-2165C>T) | gnomAD v4 |
16 | g.51139717G>C | CA495780407 | SALL1 | c.2505C>G (p.Gly835=) c.2214C>G (p.Gly738=) c.77-2165C>G (n.77-2165C>G) | |
16 | g.51139717G>T | CA495780406 | SALL1 | c.2505C>A (p.Gly835=) c.2214C>A (p.Gly738=) c.77-2165C>A (n.77-2165C>A) | |
16 | g.51139718C>A | CA395884695 | SALL1 | c.2504G>T (p.Gly835Val) c.2213G>T (p.Gly738Val) c.77-2166G>T (n.77-2166G>T) | |
16 | g.51139718C= | CA2222018540 | SALL1 | c.2504G= (p.Gly835=) c.2213G= (p.Gly738=) c.77-2166G= (n.77-2166G=) | |
16 | g.51139718C>G | CA395884694 | SALL1 | c.2504G>C (p.Gly835Ala) c.2213G>C (p.Gly738Ala) c.77-2166G>C (n.77-2166G>C) | |
16 | g.51139718C>T | CA281301256 | SALL1 | c.2504G>A (p.Gly835Asp) c.2213G>A (p.Gly738Asp) c.77-2166G>A (n.77-2166G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139719C>A | CA395884696 | SALL1 | c.2503G>T (p.Gly835Cys) c.2212G>T (p.Gly738Cys) c.77-2167G>T (n.77-2167G>T) | |
16 | g.51139719C>G | CA395884697 | SALL1 | c.2503G>C (p.Gly835Arg) c.2212G>C (p.Gly738Arg) c.77-2167G>C (n.77-2167G>C) | |
16 | g.51139719C>T | CA395884698 | SALL1 | c.2503G>A (p.Gly835Ser) c.2212G>A (p.Gly738Ser) c.77-2167G>A (n.77-2167G>A) | gnomAD v4 |
16 | g.51139720C>A | CA395884699 | SALL1 | c.2502G>T (p.Glu834Asp) c.2211G>T (p.Glu737Asp) c.77-2168G>T (n.77-2168G>T) | |
16 | g.51139720C= | CA2222018545 | SALL1 | c.2502G= (p.Glu834=) c.2211G= (p.Glu737=) c.77-2168G= (n.77-2168G=) | |
16 | g.51139720C>G | CA281301258 | SALL1 | c.2502G>C (p.Glu834Asp) c.2211G>C (p.Glu737Asp) c.77-2168G>C (n.77-2168G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139720C>T | CA495780409 | SALL1 | c.2502G>A (p.Glu834=) c.2211G>A (p.Glu737=) c.77-2168G>A (n.77-2168G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139721T>A | CA395884700 | SALL1 | c.2501A>T (p.Glu834Val) c.2210A>T (p.Glu737Val) c.77-2169A>T (n.77-2169A>T) | |
16 | g.51139721T>C | CA395884701 | SALL1 | c.2501A>G (p.Glu834Gly) c.2210A>G (p.Glu737Gly) c.77-2169A>G (n.77-2169A>G) | |
16 | g.51139721T>G | CA395884702 | SALL1 | c.2501A>C (p.Glu834Ala) c.2210A>C (p.Glu737Ala) c.77-2169A>C (n.77-2169A>C) | |
16 | g.51139722C>A | CA395884703 | SALL1 | c.2500G>T (p.Glu834Ter) c.2209G>T (p.Glu737Ter) c.77-2170G>T (n.77-2170G>T) | |
16 | g.51139722C= | CA2222018549 | SALL1 | c.2500G= (p.Glu834=) c.2209G= (p.Glu737=) c.77-2170G= (n.77-2170G=) | |
16 | g.51139722C>G | CA395884704 | SALL1 | c.2500G>C (p.Glu834Gln) c.2209G>C (p.Glu737Gln) c.77-2170G>C (n.77-2170G>C) | |
16 | g.51139722C>T | CA395884705 | SALL1 | c.2500G>A (p.Glu834Lys) c.2209G>A (p.Glu737Lys) c.77-2170G>A (n.77-2170G>A) | dbSNP |
16 | g.51139723A= | CA2222018553 | SALL1 | c.2499T= (p.Pro833=) c.2208T= (p.Pro736=) c.77-2171T= (n.77-2171T=) | |
16 | g.51139723A>C | CA495780411 | SALL1 | c.2499T>G (p.Pro833=) c.2208T>G (p.Pro736=) c.77-2171T>G (n.77-2171T>G) | |
16 | g.51139723A>G | CA495780413 | SALL1 | c.2499T>C (p.Pro833=) c.2208T>C (p.Pro736=) c.77-2171T>C (n.77-2171T>C) | |
16 | g.51139723A>T | CA8053093 | SALL1 | c.2499T>A (p.Pro833=) c.2208T>A (p.Pro736=) c.77-2171T>A (n.77-2171T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139724G>A | CA395884706 | SALL1 | c.2498C>T (p.Pro833Leu) c.2207C>T (p.Pro736Leu) c.77-2172C>T (n.77-2172C>T) | gnomAD v4 |
16 | g.51139724G>C | CA8053094 | SALL1 | c.2498C>G (p.Pro833Arg) c.2207C>G (p.Pro736Arg) c.77-2172C>G (n.77-2172C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139724G= | CA2222018558 | SALL1 | c.2498C= (p.Pro833=) c.2207C= (p.Pro736=) c.77-2172C= (n.77-2172C=) | |
16 | g.51139724G>T | CA395884707 | SALL1 | c.2498C>A (p.Pro833His) c.2207C>A (p.Pro736His) c.77-2172C>A (n.77-2172C>A) | |
16 | g.51139725G>A | CA395884708 | SALL1 | c.2497C>T (p.Pro833Ser) c.2206C>T (p.Pro736Ser) c.77-2173C>T (n.77-2173C>T) | |
16 | g.51139725G>C | CA395884709 | SALL1 | c.2497C>G (p.Pro833Ala) c.2206C>G (p.Pro736Ala) c.77-2173C>G (n.77-2173C>G) | |
16 | g.51139725G>T | CA395884710 | SALL1 | c.2497C>A (p.Pro833Thr) c.2206C>A (p.Pro736Thr) c.77-2173C>A (n.77-2173C>A) | |
16 | g.51139726A>C | CA395884711 | SALL1 | c.2496T>G (p.Cys832Trp) c.2205T>G (p.Cys735Trp) c.77-2174T>G (n.77-2174T>G) | |
16 | g.51139726A>G | CA495780414 | SALL1 | c.2496T>C (p.Cys832=) c.2205T>C (p.Cys735=) c.77-2174T>C (n.77-2174T>C) | |
16 | g.51139726A>T | CA395884712 | SALL1 | c.2496T>A (p.Cys832Ter) c.2205T>A (p.Cys735Ter) c.77-2174T>A (n.77-2174T>A) | COSMIC |
16 | g.51139727C>A | CA395884713 | SALL1 | c.2495G>T (p.Cys832Phe) c.2204G>T (p.Cys735Phe) c.77-2175G>T (n.77-2175G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139727C= | CA2222018565 | SALL1 | c.2495G= (p.Cys832=) c.2204G= (p.Cys735=) c.77-2175G= (n.77-2175G=) | |
16 | g.51139727C>G | CA395884714 | SALL1 | c.2495G>C (p.Cys832Ser) c.2204G>C (p.Cys735Ser) c.77-2175G>C (n.77-2175G>C) | |
16 | g.51139727C>T | CA395884715 | SALL1 | c.2495G>A (p.Cys832Tyr) c.2204G>A (p.Cys735Tyr) c.77-2175G>A (n.77-2175G>A) | |
16 | g.51139728A>C | CA395884716 | SALL1 | c.2494T>G (p.Cys832Gly) c.2203T>G (p.Cys735Gly) c.77-2176T>G (n.77-2176T>G) | |
16 | g.51139728A>G | CA395884717 | SALL1 | c.2494T>C (p.Cys832Arg) c.2203T>C (p.Cys735Arg) c.77-2176T>C (n.77-2176T>C) | |
16 | g.51139728A>T | CA395884718 | SALL1 | c.2494T>A (p.Cys832Ser) c.2203T>A (p.Cys735Ser) c.77-2176T>A (n.77-2176T>A) | |
16 | g.51139729G>A | CA495780416 | SALL1 | c.2493C>T (p.Asp831=) c.2202C>T (p.Asp734=) c.77-2177C>T (n.77-2177C>T) | |
16 | g.51139729G>C | CA395884719 | SALL1 | c.2493C>G (p.Asp831Glu) c.2202C>G (p.Asp734Glu) c.77-2177C>G (n.77-2177C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139729G= | CA2222018568 | SALL1 | c.2493C= (p.Asp831=) c.2202C= (p.Asp734=) c.77-2177C= (n.77-2177C=) | |
16 | g.51139729G>T | CA395884720 | SALL1 | c.2493C>A (p.Asp831Glu) c.2202C>A (p.Asp734Glu) c.77-2177C>A (n.77-2177C>A) | |
16 | g.51139730T>A | CA395884721 | SALL1 | c.2492A>T (p.Asp831Val) c.2201A>T (p.Asp734Val) c.77-2178A>T (n.77-2178A>T) | |
16 | g.51139730T>C | CA395884722 | SALL1 | c.2492A>G (p.Asp831Gly) c.2201A>G (p.Asp734Gly) c.77-2178A>G (n.77-2178A>G) | gnomAD v4 |
16 | g.51139730T>G | CA8053095 | SALL1 | c.2492A>C (p.Asp831Ala) c.2201A>C (p.Asp734Ala) c.77-2178A>C (n.77-2178A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139730T= | CA2222018573 | SALL1 | c.2492A= (p.Asp831=) c.2201A= (p.Asp734=) c.77-2178A= (n.77-2178A=) | |
16 | g.51139731C>A | CA395884723 | SALL1 | c.2491G>T (p.Asp831Tyr) c.2200G>T (p.Asp734Tyr) c.77-2179G>T (n.77-2179G>T) | |
16 | g.51139731C= | CA2222018581 | SALL1 | c.2491G= (p.Asp831=) c.2200G= (p.Asp734=) c.77-2179G= (n.77-2179G=) | |
16 | g.51139731C>G | CA395884724 | SALL1 | c.2491G>C (p.Asp831His) c.2200G>C (p.Asp734His) c.77-2179G>C (n.77-2179G>C) | |
16 | g.51139731C>T | CA395884725 | SALL1 | c.2491G>A (p.Asp831Asn) c.2200G>A (p.Asp734Asn) c.77-2179G>A (n.77-2179G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139732T>A | CA395884726 | SALL1 | c.2490A>T (p.Glu830Asp) c.2199A>T (p.Glu733Asp) c.77-2180A>T (n.77-2180A>T) | |
16 | g.51139732T>C | CA495780418 | SALL1 | c.2490A>G (p.Glu830=) c.2199A>G (p.Glu733=) c.77-2180A>G (n.77-2180A>G) | |
16 | g.51139732T>G | CA395884727 | SALL1 | c.2490A>C (p.Glu830Asp) c.2199A>C (p.Glu733Asp) c.77-2180A>C (n.77-2180A>C) | |
16 | g.51139733T>A | CA395884728 | SALL1 | c.2489A>T (p.Glu830Val) c.2198A>T (p.Glu733Val) c.77-2181A>T (n.77-2181A>T) | |
16 | g.51139733T>C | CA395884729 | SALL1 | c.2489A>G (p.Glu830Gly) c.2198A>G (p.Glu733Gly) c.77-2181A>G (n.77-2181A>G) | |
16 | g.51139733T>G | CA395884730 | SALL1 | c.2489A>C (p.Glu830Ala) c.2198A>C (p.Glu733Ala) c.77-2181A>C (n.77-2181A>C) | |
16 | g.51139734C>A | CA395884731 | SALL1 | c.2488G>T (p.Glu830Ter) c.2197G>T (p.Glu733Ter) c.77-2182G>T (n.77-2182G>T) | |
16 | g.51139734C= | CA2222018589 | SALL1 | c.2488G= (p.Glu830=) c.2197G= (p.Glu733=) c.77-2182G= (n.77-2182G=) | |
16 | g.51139734C>G | CA395884732 | SALL1 | c.2488G>C (p.Glu830Gln) c.2197G>C (p.Glu733Gln) c.77-2182G>C (n.77-2182G>C) | |
16 | g.51139734C>T | CA281301273 | SALL1 | c.2488G>A (p.Glu830Lys) c.2197G>A (p.Glu733Lys) c.77-2182G>A (n.77-2182G>A) | dbSNP |
16 | g.51139735C>A | CA395884734 | SALL1 | c.2487G>T (p.Met829Ile) c.2196G>T (p.Met732Ile) c.77-2183G>T (n.77-2183G>T) | |
16 | g.51139735C>G | CA395884735 | SALL1 | c.2487G>C (p.Met829Ile) c.2196G>C (p.Met732Ile) c.77-2183G>C (n.77-2183G>C) | |
16 | g.51139735C>T | CA395884733 | SALL1 | c.2487G>A (p.Met829Ile) c.2196G>A (p.Met732Ile) c.77-2183G>A (n.77-2183G>A) | |
16 | g.51139736A>C | CA395884738 | SALL1 | c.2486T>G (p.Met829Arg) c.2195T>G (p.Met732Arg) c.77-2184T>G (n.77-2184T>G) | |
16 | g.51139736A>G | CA395884736 | SALL1 | c.2486T>C (p.Met829Thr) c.2195T>C (p.Met732Thr) c.77-2184T>C (n.77-2184T>C) | gnomAD v4 |
16 | g.51139736A>T | CA395884737 | SALL1 | c.2486T>A (p.Met829Lys) c.2195T>A (p.Met732Lys) c.77-2184T>A (n.77-2184T>A) | |
16 | g.51139737T>A | CA395884739 | SALL1 | c.2485A>T (p.Met829Leu) c.2194A>T (p.Met732Leu) c.77-2185A>T (n.77-2185A>T) | dbSNP gnomAD v4 |
16 | g.51139737T>C | CA395884740 | SALL1 | c.2485A>G (p.Met829Val) c.2194A>G (p.Met732Val) c.77-2185A>G (n.77-2185A>G) | |
16 | g.51139737T>G | CA395884741 | SALL1 | c.2485A>C (p.Met829Leu) c.2194A>C (p.Met732Leu) c.77-2185A>C (n.77-2185A>C) | dbSNP gnomAD v2 |
16 | g.51139737T= | CA2222018597 | SALL1 | c.2485A= (p.Met829=) c.2194A= (p.Met732=) c.77-2185A= (n.77-2185A=) | |
16 | g.51139738G>A | CA495780424 | SALL1 | c.2484C>T (p.Asn828=) c.2193C>T (p.Asn731=) c.77-2186C>T (n.77-2186C>T) | |
16 | g.51139738G>C | CA395884742 | SALL1 | c.2484C>G (p.Asn828Lys) c.2193C>G (p.Asn731Lys) c.77-2186C>G (n.77-2186C>G) | |
16 | g.51139738G>T | CA395884743 | SALL1 | c.2484C>A (p.Asn828Lys) c.2193C>A (p.Asn731Lys) c.77-2186C>A (n.77-2186C>A) | |
16 | g.51139739T>A | CA395884744 | SALL1 | c.2483A>T (p.Asn828Ile) c.2192A>T (p.Asn731Ile) c.77-2187A>T (n.77-2187A>T) | |
16 | g.51139739T>C | CA395884745 | SALL1 | c.2483A>G (p.Asn828Ser) c.2192A>G (p.Asn731Ser) c.77-2187A>G (n.77-2187A>G) | |
16 | g.51139739T>G | CA395884746 | SALL1 | c.2483A>C (p.Asn828Thr) c.2192A>C (p.Asn731Thr) c.77-2187A>C (n.77-2187A>C) | |
16 | g.51139740T>A | CA395884747 | SALL1 | c.2482A>T (p.Asn828Tyr) c.2191A>T (p.Asn731Tyr) c.77-2188A>T (n.77-2188A>T) | |
16 | g.51139740T>C | CA395884748 | SALL1 | c.2482A>G (p.Asn828Asp) c.2191A>G (p.Asn731Asp) c.77-2188A>G (n.77-2188A>G) | gnomAD v4 |
16 | g.51139740T>G | CA395884749 | SALL1 | c.2482A>C (p.Asn828His) c.2191A>C (p.Asn731His) c.77-2188A>C (n.77-2188A>C) | |
16 | g.51139741T>A | CA395884750 | SALL1 | c.2481A>T (p.Glu827Asp) c.2190A>T (p.Glu730Asp) c.77-2189A>T (n.77-2189A>T) | |
16 | g.51139741T>C | CA495780425 | SALL1 | c.2481A>G (p.Glu827=) c.2190A>G (p.Glu730=) c.77-2189A>G (n.77-2189A>G) | |
16 | g.51139741T>G | CA395884751 | SALL1 | c.2481A>C (p.Glu827Asp) c.2190A>C (p.Glu730Asp) c.77-2189A>C (n.77-2189A>C) | |
16 | g.51139742T>A | CA395884752 | SALL1 | c.2480A>T (p.Glu827Val) c.2189A>T (p.Glu730Val) c.77-2190A>T (n.77-2190A>T) | |
16 | g.51139742T>C | CA395884753 | SALL1 | c.2480A>G (p.Glu827Gly) c.2189A>G (p.Glu730Gly) c.77-2190A>G (n.77-2190A>G) | gnomAD v4 |
16 | g.51139742T>G | CA395884754 | SALL1 | c.2480A>C (p.Glu827Ala) c.2189A>C (p.Glu730Ala) c.77-2190A>C (n.77-2190A>C) | |
16 | g.51139743C>A | CA395884755 | SALL1 | c.2479G>T (p.Glu827Ter) c.2188G>T (p.Glu730Ter) c.77-2191G>T (n.77-2191G>T) | |
16 | g.51139743C>G | CA395884756 | SALL1 | c.2479G>C (p.Glu827Gln) c.2188G>C (p.Glu730Gln) c.77-2191G>C (n.77-2191G>C) | |
16 | g.51139743C>T | CA395884757 | SALL1 | c.2479G>A (p.Glu827Lys) c.2188G>A (p.Glu730Lys) c.77-2191G>A (n.77-2191G>A) | COSMIC |
16 | g.51139744A= | CA2222018602 | SALL1 | c.2478T= (p.Asp826=) c.2187T= (p.Asp729=) c.77-2192T= (n.77-2192T=) | |
16 | g.51139744A>C | CA395884758 | SALL1 | c.2478T>G (p.Asp826Glu) c.2187T>G (p.Asp729Glu) c.77-2192T>G (n.77-2192T>G) | |
16 | g.51139744A>G | CA8053096 | SALL1 | c.2478T>C (p.Asp826=) c.2187T>C (p.Asp729=) c.77-2192T>C (n.77-2192T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139744A>T | CA395884759 | SALL1 | c.2478T>A (p.Asp826Glu) c.2187T>A (p.Asp729Glu) c.77-2192T>A (n.77-2192T>A) | |
16 | g.51139745T>A | CA395884760 | SALL1 | c.2477A>T (p.Asp826Val) c.2186A>T (p.Asp729Val) c.77-2193A>T (n.77-2193A>T) | |
16 | g.51139745T>C | CA395884761 | SALL1 | c.2477A>G (p.Asp826Gly) c.2186A>G (p.Asp729Gly) c.77-2193A>G (n.77-2193A>G) | |
16 | g.51139745T>G | CA395884762 | SALL1 | c.2477A>C (p.Asp826Ala) c.2186A>C (p.Asp729Ala) c.77-2193A>C (n.77-2193A>C) | |
16 | g.51139746C>A | CA395884764 | SALL1 | c.2476G>T (p.Asp826Tyr) c.2185G>T (p.Asp729Tyr) c.77-2194G>T (n.77-2194G>T) | |
16 | g.51139746C= | CA2222018606 | SALL1 | c.2476G= (p.Asp826=) c.2185G= (p.Asp729=) c.77-2194G= (n.77-2194G=) | |
16 | g.51139746C>G | CA395884763 | SALL1 | c.2476G>C (p.Asp826His) c.2185G>C (p.Asp729His) c.77-2194G>C (n.77-2194G>C) | |
16 | g.51139746C>T | CA8053097 | SALL1 | c.2476G>A (p.Asp826Asn) c.2185G>A (p.Asp729Asn) c.77-2194G>A (n.77-2194G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139747A>C | CA495780429 | SALL1 | c.2475T>G (p.Ser825=) c.2184T>G (p.Ser728=) c.77-2195T>G (n.77-2195T>G) | |
16 | g.51139747A>G | CA495780430 | SALL1 | c.2475T>C (p.Ser825=) c.2184T>C (p.Ser728=) c.77-2195T>C (n.77-2195T>C) | dbSNP |
16 | g.51139747A>T | CA495780431 | SALL1 | c.2475T>A (p.Ser825=) c.2184T>A (p.Ser728=) c.77-2195T>A (n.77-2195T>A) | |
16 | g.51139748G>A | CA395884767 | SALL1 | c.2474C>T (p.Ser825Phe) c.2183C>T (p.Ser728Phe) c.77-2196C>T (n.77-2196C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139748G>C | CA395884765 | SALL1 | c.2474C>G (p.Ser825Cys) c.2183C>G (p.Ser728Cys) c.77-2196C>G (n.77-2196C>G) | gnomAD v4 |
16 | g.51139748G= | CA2222018611 | SALL1 | c.2474C= (p.Ser825=) c.2183C= (p.Ser728=) c.77-2196C= (n.77-2196C=) | |
16 | g.51139748G>T | CA395884766 | SALL1 | c.2474C>A (p.Ser825Tyr) c.2183C>A (p.Ser728Tyr) c.77-2196C>A (n.77-2196C>A) | |
16 | g.51139749A>C | CA395884768 | SALL1 | c.2473T>G (p.Ser825Ala) c.2182T>G (p.Ser728Ala) c.77-2197T>G (n.77-2197T>G) | |
16 | g.51139749A>G | CA395884769 | SALL1 | c.2473T>C (p.Ser825Pro) c.2182T>C (p.Ser728Pro) c.77-2197T>C (n.77-2197T>C) | |
16 | g.51139749A>T | CA395884770 | SALL1 | c.2473T>A (p.Ser825Thr) c.2182T>A (p.Ser728Thr) c.77-2197T>A (n.77-2197T>A) | |
16 | g.51139750G>A | CA495780432 | SALL1 | c.2472C>T (p.Phe824=) c.2181C>T (p.Phe727=) c.77-2198C>T (n.77-2198C>T) | dbSNP |
16 | g.51139750G>C | CA395884771 | SALL1 | c.2472C>G (p.Phe824Leu) c.2181C>G (p.Phe727Leu) c.77-2198C>G (n.77-2198C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139750G= | CA2222018613 | SALL1 | c.2472C= (p.Phe824=) c.2181C= (p.Phe727=) c.77-2198C= (n.77-2198C=) | |
16 | g.51139750G>T | CA395884772 | SALL1 | c.2472C>A (p.Phe824Leu) c.2181C>A (p.Phe727Leu) c.77-2198C>A (n.77-2198C>A) | |
16 | g.51139751A= | CA2222018617 | SALL1 | c.2471T= (p.Phe824=) c.2180T= (p.Phe727=) c.77-2199T= (n.77-2199T=) | |
16 | g.51139751A>C | CA395884773 | SALL1 | c.2471T>G (p.Phe824Cys) c.2180T>G (p.Phe727Cys) c.77-2199T>G (n.77-2199T>G) | |
16 | g.51139751A>G | CA395884774 | SALL1 | c.2471T>C (p.Phe824Ser) c.2180T>C (p.Phe727Ser) c.77-2199T>C (n.77-2199T>C) | |
16 | g.51139751A>T | CA8053098 | SALL1 | c.2471T>A (p.Phe824Tyr) c.2180T>A (p.Phe727Tyr) c.77-2199T>A (n.77-2199T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139752A= | CA2222018626 | SALL1 | c.2470T= (p.Phe824=) c.2179T= (p.Phe727=) c.77-2200T= (n.77-2200T=) | |
16 | g.51139752A>C | CA395884775 | SALL1 | c.2470T>G (p.Phe824Val) c.2179T>G (p.Phe727Val) c.77-2200T>G (n.77-2200T>G) | COSMIC |
16 | g.51139752A>G | CA395884776 | SALL1 | c.2470T>C (p.Phe824Leu) c.2179T>C (p.Phe727Leu) c.77-2200T>C (n.77-2200T>C) | gnomAD v4 |
16 | g.51139752A>T | CA8053099 | SALL1 | c.2470T>A (p.Phe824Ile) c.2179T>A (p.Phe727Ile) c.77-2200T>A (n.77-2200T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139753G>A | CA495780434 | SALL1 | c.2469C>T (p.Asn823=) c.2178C>T (p.Asn726=) c.77-2201C>T (n.77-2201C>T) | COSMIC |
16 | g.51139753G>C | CA395884778 | SALL1 | c.2469C>G (p.Asn823Lys) c.2178C>G (p.Asn726Lys) c.77-2201C>G (n.77-2201C>G) | |
16 | g.51139753G>T | CA395884777 | SALL1 | c.2469C>A (p.Asn823Lys) c.2178C>A (p.Asn726Lys) c.77-2201C>A (n.77-2201C>A) | |
16 | g.51139754T>A | CA395884779 | SALL1 | c.2468A>T (p.Asn823Ile) c.2177A>T (p.Asn726Ile) c.77-2202A>T (n.77-2202A>T) | |
16 | g.51139754T>C | CA281301276 | SALL1 | c.2468A>G (p.Asn823Ser) c.2177A>G (p.Asn726Ser) c.77-2202A>G (n.77-2202A>G) | dbSNP gnomAD v4 |
16 | g.51139754T>G | CA395884780 | SALL1 | c.2468A>C (p.Asn823Thr) c.2177A>C (p.Asn726Thr) c.77-2202A>C (n.77-2202A>C) | |
16 | g.51139754T= | CA2222018629 | SALL1 | c.2468A= (p.Asn823=) c.2177A= (p.Asn726=) c.77-2202A= (n.77-2202A=) | |
16 | g.51139755T>A | CA395884781 | SALL1 | c.2467A>T (p.Asn823Tyr) c.2176A>T (p.Asn726Tyr) c.77-2203A>T (n.77-2203A>T) | |
16 | g.51139755T>C | CA8053100 | SALL1 | c.2467A>G (p.Asn823Asp) c.2176A>G (p.Asn726Asp) c.77-2203A>G (n.77-2203A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139755T>G | CA395884782 | SALL1 | c.2467A>C (p.Asn823His) c.2176A>C (p.Asn726His) c.77-2203A>C (n.77-2203A>C) | |
16 | g.51139755T= | CA2222018634 | SALL1 | c.2467A= (p.Asn823=) c.2176A= (p.Asn726=) c.77-2203A= (n.77-2203A=) | |
16 | g.51139756G>A | CA495780438 | SALL1 | c.2466C>T (p.Asp822=) c.2175C>T (p.Asp725=) c.77-2204C>T (n.77-2204C>T) | |
16 | g.51139756G>C | CA395884783 | SALL1 | c.2466C>G (p.Asp822Glu) c.2175C>G (p.Asp725Glu) c.77-2204C>G (n.77-2204C>G) | |
16 | g.51139756G>T | CA395884784 | SALL1 | c.2466C>A (p.Asp822Glu) c.2175C>A (p.Asp725Glu) c.77-2204C>A (n.77-2204C>A) | |
16 | g.51139757T>A | CA395884785 | SALL1 | c.2465A>T (p.Asp822Val) c.2174A>T (p.Asp725Val) c.77-2205A>T (n.77-2205A>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139757T>C | CA395884786 | SALL1 | c.2465A>G (p.Asp822Gly) c.2174A>G (p.Asp725Gly) c.77-2205A>G (n.77-2205A>G) | gnomAD v4 |
16 | g.51139757T>G | CA395884787 | SALL1 | c.2465A>C (p.Asp822Ala) c.2174A>C (p.Asp725Ala) c.77-2205A>C (n.77-2205A>C) | |
16 | g.51139757T= | CA2222018640 | SALL1 | c.2465A= (p.Asp822=) c.2174A= (p.Asp725=) c.77-2205A= (n.77-2205A=) | |
16 | g.51139758C>A | CA395884788 | SALL1 | c.2464G>T (p.Asp822Tyr) c.2173G>T (p.Asp725Tyr) c.77-2206G>T (n.77-2206G>T) | |
16 | g.51139758C>G | CA395884789 | SALL1 | c.2464G>C (p.Asp822His) c.2173G>C (p.Asp725His) c.77-2206G>C (n.77-2206G>C) | gnomAD v4 |
16 | g.51139758C>T | CA395884790 | SALL1 | c.2464G>A (p.Asp822Asn) c.2173G>A (p.Asp725Asn) c.77-2206G>A (n.77-2206G>A) |