| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.51784304_51785229delinsCTAAGGCAGGAGAATCACTTGAACCCAGAAT | CA645610833 | SALL4 | c.2743-545_3123delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.412-545_792delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.1432-545_1812delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2437-545_2817delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2617-545_2997delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG | COSMIC |
| 20 | g.51784604C>A | CA511025860 | SALL4 | c.2823G>T (p.Leu941=) c.492G>T (p.Leu164=) c.1512G>T (p.Leu504=) c.2517G>T (p.Leu839=) c.2697G>T (p.Leu899=) | dbSNP gnomAD v4 |
| 20 | g.51784604C= | CA2369155352 | SALL4 | c.2823G= (p.Leu941=) c.492G= (p.Leu164=) c.1512G= (p.Leu504=) c.2517G= (p.Leu839=) c.2697G= (p.Leu899=) | |
| 20 | g.51784604C>G | CA511025861 | SALL4 | c.2823G>C (p.Leu941=) c.492G>C (p.Leu164=) c.1512G>C (p.Leu504=) c.2517G>C (p.Leu839=) c.2697G>C (p.Leu899=) | |
| 20 | g.51784604C>T | CA9911990 | SALL4 | c.2823G>A (p.Leu941=) c.492G>A (p.Leu164=) c.1512G>A (p.Leu504=) c.2517G>A (p.Leu839=) c.2697G>A (p.Leu899=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784605A= | CA2369155353 | SALL4 | c.2822T= (p.Leu941=) c.491T= (p.Leu164=) c.1511T= (p.Leu504=) c.2516T= (p.Leu839=) c.2696T= (p.Leu899=) | |
| 20 | g.51784605A>C | CA409006251 | SALL4 | c.2822T>G (p.Leu941Arg) c.491T>G (p.Leu164Arg) c.1511T>G (p.Leu504Arg) c.2516T>G (p.Leu839Arg) c.2696T>G (p.Leu899Arg) | |
| 20 | g.51784605A>G | CA315366292 | SALL4 | c.2822T>C (p.Leu941Pro) c.491T>C (p.Leu164Pro) c.1511T>C (p.Leu504Pro) c.2516T>C (p.Leu839Pro) c.2696T>C (p.Leu899Pro) | dbSNP |
| 20 | g.51784605A>T | CA409006252 | SALL4 | c.2822T>A (p.Leu941Gln) c.491T>A (p.Leu164Gln) c.1511T>A (p.Leu504Gln) c.2516T>A (p.Leu839Gln) c.2696T>A (p.Leu899Gln) | |
| 20 | g.51784606G>A | CA511025863 | SALL4 | c.2821C>T (p.Leu941=) c.490C>T (p.Leu164=) c.1510C>T (p.Leu504=) c.2515C>T (p.Leu839=) c.2695C>T (p.Leu899=) | gnomAD v4 |
| 20 | g.51784606G>C | CA409006253 | SALL4 | c.2821C>G (p.Leu941Val) c.490C>G (p.Leu164Val) c.1510C>G (p.Leu504Val) c.2515C>G (p.Leu839Val) c.2695C>G (p.Leu899Val) | dbSNP |
| 20 | g.51784606G= | CA2369155354 | SALL4 | c.2821C= (p.Leu941=) c.490C= (p.Leu164=) c.1510C= (p.Leu504=) c.2515C= (p.Leu839=) c.2695C= (p.Leu899=) | |
| 20 | g.51784606G>T | CA409006254 | SALL4 | c.2821C>A (p.Leu941Met) c.490C>A (p.Leu164Met) c.1510C>A (p.Leu504Met) c.2515C>A (p.Leu839Met) c.2695C>A (p.Leu899Met) | |
| 20 | g.51784607A>C | CA511025866 | SALL4 | c.2820T>G (p.Ala940=) c.489T>G (p.Ala163=) c.1509T>G (p.Ala503=) c.2514T>G (p.Ala838=) c.2694T>G (p.Ala898=) | |
| 20 | g.51784607A>G | CA511025867 | SALL4 | c.2820T>C (p.Ala940=) c.489T>C (p.Ala163=) c.1509T>C (p.Ala503=) c.2514T>C (p.Ala838=) c.2694T>C (p.Ala898=) | |
| 20 | g.51784607A>T | CA511025868 | SALL4 | c.2820T>A (p.Ala940=) c.489T>A (p.Ala163=) c.1509T>A (p.Ala503=) c.2514T>A (p.Ala838=) c.2694T>A (p.Ala898=) | |
| 20 | g.51784608G>A | CA409006257 | SALL4 | c.2819C>T (p.Ala940Val) c.488C>T (p.Ala163Val) c.1508C>T (p.Ala503Val) c.2513C>T (p.Ala838Val) c.2693C>T (p.Ala898Val) | |
| 20 | g.51784608G>C | CA409006255 | SALL4 | c.2819C>G (p.Ala940Gly) c.488C>G (p.Ala163Gly) c.1508C>G (p.Ala503Gly) c.2513C>G (p.Ala838Gly) c.2693C>G (p.Ala898Gly) | |
| 20 | g.51784608G>T | CA409006256 | SALL4 | c.2819C>A (p.Ala940Asp) c.488C>A (p.Ala163Asp) c.1508C>A (p.Ala503Asp) c.2513C>A (p.Ala838Asp) c.2693C>A (p.Ala898Asp) | gnomAD v4 |
| 20 | g.51784609C>A | CA409006258 | SALL4 | c.2818G>T (p.Ala940Ser) c.487G>T (p.Ala163Ser) c.1507G>T (p.Ala503Ser) c.2512G>T (p.Ala838Ser) c.2692G>T (p.Ala898Ser) | |
| 20 | g.51784609C= | CA2369155355 | SALL4 | c.2818G= (p.Ala940=) c.487G= (p.Ala163=) c.1507G= (p.Ala503=) c.2512G= (p.Ala838=) c.2692G= (p.Ala898=) | |
| 20 | g.51784609C>G | CA9911991 | SALL4 | c.2818G>C (p.Ala940Pro) c.487G>C (p.Ala163Pro) c.1507G>C (p.Ala503Pro) c.2512G>C (p.Ala838Pro) c.2692G>C (p.Ala898Pro) | dbSNP ExAC gnomAD v2 |
| 20 | g.51784609C>T | CA409006259 | SALL4 | c.2818G>A (p.Ala940Thr) c.487G>A (p.Ala163Thr) c.1507G>A (p.Ala503Thr) c.2512G>A (p.Ala838Thr) c.2692G>A (p.Ala898Thr) | |
| 20 | g.51784610C>A | CA409006260 | SALL4 | c.2817G>T (p.Met939Ile) c.486G>T (p.Met162Ile) c.1506G>T (p.Met502Ile) c.2511G>T (p.Met837Ile) c.2691G>T (p.Met897Ile) | |
| 20 | g.51784610C>G | CA409006261 | SALL4 | c.2817G>C (p.Met939Ile) c.486G>C (p.Met162Ile) c.1506G>C (p.Met502Ile) c.2511G>C (p.Met837Ile) c.2691G>C (p.Met897Ile) | |
| 20 | g.51784610C>T | CA409006262 | SALL4 | c.2817G>A (p.Met939Ile) c.486G>A (p.Met162Ile) c.1506G>A (p.Met502Ile) c.2511G>A (p.Met837Ile) c.2691G>A (p.Met897Ile) | gnomAD v4 |
| 20 | g.51784611A= | CA2369155356 | SALL4 | c.2816T= (p.Met939=) c.485T= (p.Met162=) c.1505T= (p.Met502=) c.2510T= (p.Met837=) c.2690T= (p.Met897=) | |
| 20 | g.51784611A>C | CA409006263 | SALL4 | c.2816T>G (p.Met939Arg) c.485T>G (p.Met162Arg) c.1505T>G (p.Met502Arg) c.2510T>G (p.Met837Arg) c.2690T>G (p.Met897Arg) | ClinVar dbSNP |
| 20 | g.51784611A>G | CA9911992 | SALL4 | c.2816T>C (p.Met939Thr) c.485T>C (p.Met162Thr) c.1505T>C (p.Met502Thr) c.2510T>C (p.Met837Thr) c.2690T>C (p.Met897Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784611A>T | CA409006264 | SALL4 | c.2816T>A (p.Met939Lys) c.485T>A (p.Met162Lys) c.1505T>A (p.Met502Lys) c.2510T>A (p.Met837Lys) c.2690T>A (p.Met897Lys) | |
| 20 | g.51784612T>A | CA409006265 | SALL4 | c.2815A>T (p.Met939Leu) c.484A>T (p.Met162Leu) c.1504A>T (p.Met502Leu) c.2509A>T (p.Met837Leu) c.2689A>T (p.Met897Leu) | |
| 20 | g.51784612T>C | CA409006266 | SALL4 | c.2815A>G (p.Met939Val) c.484A>G (p.Met162Val) c.1504A>G (p.Met502Val) c.2509A>G (p.Met837Val) c.2689A>G (p.Met897Val) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784612T>G | CA409006267 | SALL4 | c.2815A>C (p.Met939Leu) c.484A>C (p.Met162Leu) c.1504A>C (p.Met502Leu) c.2509A>C (p.Met837Leu) c.2689A>C (p.Met897Leu) | |
| 20 | g.51784612T= | CA2369155357 | SALL4 | c.2815A= (p.Met939=) c.484A= (p.Met162=) c.1504A= (p.Met502=) c.2509A= (p.Met837=) c.2689A= (p.Met897=) | |
| 20 | g.51784613G>A | CA511025870 | SALL4 | c.2814C>T (p.Thr938=) c.483C>T (p.Thr161=) c.1503C>T (p.Thr501=) c.2508C>T (p.Thr836=) c.2688C>T (p.Thr896=) | gnomAD v4 |
| 20 | g.51784613G>C | CA511025871 | SALL4 | c.2814C>G (p.Thr938=) c.483C>G (p.Thr161=) c.1503C>G (p.Thr501=) c.2508C>G (p.Thr836=) c.2688C>G (p.Thr896=) | |
| 20 | g.51784613G>T | CA511025872 | SALL4 | c.2814C>A (p.Thr938=) c.483C>A (p.Thr161=) c.1503C>A (p.Thr501=) c.2508C>A (p.Thr836=) c.2688C>A (p.Thr896=) | |
| 20 | g.51784614G>A | CA409006270 | SALL4 | c.2813C>T (p.Thr938Ile) c.482C>T (p.Thr161Ile) c.1502C>T (p.Thr501Ile) c.2507C>T (p.Thr836Ile) c.2687C>T (p.Thr896Ile) | |
| 20 | g.51784614G>C | CA409006269 | SALL4 | c.2813C>G (p.Thr938Ser) c.482C>G (p.Thr161Ser) c.1502C>G (p.Thr501Ser) c.2507C>G (p.Thr836Ser) c.2687C>G (p.Thr896Ser) | |
| 20 | g.51784614G>T | CA409006268 | SALL4 | c.2813C>A (p.Thr938Asn) c.482C>A (p.Thr161Asn) c.1502C>A (p.Thr501Asn) c.2507C>A (p.Thr836Asn) c.2687C>A (p.Thr896Asn) | |
| 20 | g.51784615T>A | CA409006273 | SALL4 | c.2812A>T (p.Thr938Ser) c.481A>T (p.Thr161Ser) c.1501A>T (p.Thr501Ser) c.2506A>T (p.Thr836Ser) c.2686A>T (p.Thr896Ser) | |
| 20 | g.51784615T>C | CA409006271 | SALL4 | c.2812A>G (p.Thr938Ala) c.481A>G (p.Thr161Ala) c.1501A>G (p.Thr501Ala) c.2506A>G (p.Thr836Ala) c.2686A>G (p.Thr896Ala) | |
| 20 | g.51784615T>G | CA409006272 | SALL4 | c.2812A>C (p.Thr938Pro) c.481A>C (p.Thr161Pro) c.1501A>C (p.Thr501Pro) c.2506A>C (p.Thr836Pro) c.2686A>C (p.Thr896Pro) | |
| 20 | g.51784616G>A | CA511025874 | SALL4 | c.2811C>T (p.Asn937=) c.480C>T (p.Asn160=) c.1500C>T (p.Asn500=) c.2505C>T (p.Asn835=) c.2685C>T (p.Asn895=) | |
| 20 | g.51784616G>C | CA409006274 | SALL4 | c.2811C>G (p.Asn937Lys) c.480C>G (p.Asn160Lys) c.1500C>G (p.Asn500Lys) c.2505C>G (p.Asn835Lys) c.2685C>G (p.Asn895Lys) | |
| 20 | g.51784616G>T | CA409006275 | SALL4 | c.2811C>A (p.Asn937Lys) c.480C>A (p.Asn160Lys) c.1500C>A (p.Asn500Lys) c.2505C>A (p.Asn835Lys) c.2685C>A (p.Asn895Lys) | gnomAD v4 |
| 20 | g.51784617T>A | CA409006276 | SALL4 | c.2810A>T (p.Asn937Ile) c.479A>T (p.Asn160Ile) c.1499A>T (p.Asn500Ile) c.2504A>T (p.Asn835Ile) c.2684A>T (p.Asn895Ile) | |
| 20 | g.51784617T>C | CA9911993 | SALL4 | c.2810A>G (p.Asn937Ser) c.479A>G (p.Asn160Ser) c.1499A>G (p.Asn500Ser) c.2504A>G (p.Asn835Ser) c.2684A>G (p.Asn895Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784617T>G | CA409006277 | SALL4 | c.2810A>C (p.Asn937Thr) c.479A>C (p.Asn160Thr) c.1499A>C (p.Asn500Thr) c.2504A>C (p.Asn835Thr) c.2684A>C (p.Asn895Thr) | |
| 20 | g.51784617T= | CA2369155358 | SALL4 | c.2810A= (p.Asn937=) c.479A= (p.Asn160=) c.1499A= (p.Asn500=) c.2504A= (p.Asn835=) c.2684A= (p.Asn895=) | |
| 20 | g.51784618T>A | CA409006278 | SALL4 | c.2809A>T (p.Asn937Tyr) c.478A>T (p.Asn160Tyr) c.1498A>T (p.Asn500Tyr) c.2503A>T (p.Asn835Tyr) c.2683A>T (p.Asn895Tyr) | |
| 20 | g.51784618T>C | CA9911994 | SALL4 | c.2809A>G (p.Asn937Asp) c.478A>G (p.Asn160Asp) c.1498A>G (p.Asn500Asp) c.2503A>G (p.Asn835Asp) c.2683A>G (p.Asn895Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784618T>G | CA409006279 | SALL4 | c.2809A>C (p.Asn937His) c.478A>C (p.Asn160His) c.1498A>C (p.Asn500His) c.2503A>C (p.Asn835His) c.2683A>C (p.Asn895His) | ClinVar |
| 20 | g.51784618T= | CA2369155359 | SALL4 | c.2809A= (p.Asn937=) c.478A= (p.Asn160=) c.1498A= (p.Asn500=) c.2503A= (p.Asn835=) c.2683A= (p.Asn895=) | |
| 20 | g.51784619C>A | CA409006280 | SALL4 | c.2808G>T (p.Glu936Asp) c.477G>T (p.Glu159Asp) c.1497G>T (p.Glu499Asp) c.2502G>T (p.Glu834Asp) c.2682G>T (p.Glu894Asp) | gnomAD v4 |
| 20 | g.51784619C>G | CA409006281 | SALL4 | c.2808G>C (p.Glu936Asp) c.477G>C (p.Glu159Asp) c.1497G>C (p.Glu499Asp) c.2502G>C (p.Glu834Asp) c.2682G>C (p.Glu894Asp) | COSMIC |
| 20 | g.51784619C>T | CA511025876 | SALL4 | c.2808G>A (p.Glu936=) c.477G>A (p.Glu159=) c.1497G>A (p.Glu499=) c.2502G>A (p.Glu834=) c.2682G>A (p.Glu894=) | |
| 20 | g.51784620T>A | CA409006283 | SALL4 | c.2807A>T (p.Glu936Val) c.476A>T (p.Glu159Val) c.1496A>T (p.Glu499Val) c.2501A>T (p.Glu834Val) c.2681A>T (p.Glu894Val) | |
| 20 | g.51784620T>C | CA409006284 | SALL4 | c.2807A>G (p.Glu936Gly) c.476A>G (p.Glu159Gly) c.1496A>G (p.Glu499Gly) c.2501A>G (p.Glu834Gly) c.2681A>G (p.Glu894Gly) | |
| 20 | g.51784620T>G | CA409006282 | SALL4 | c.2807A>C (p.Glu936Ala) c.476A>C (p.Glu159Ala) c.1496A>C (p.Glu499Ala) c.2501A>C (p.Glu834Ala) c.2681A>C (p.Glu894Ala) | |
| 20 | g.51784621C>A | CA409006285 | SALL4 | c.2806G>T (p.Glu936Ter) c.475G>T (p.Glu159Ter) c.1495G>T (p.Glu499Ter) c.2500G>T (p.Glu834Ter) c.2680G>T (p.Glu894Ter) | |
| 20 | g.51784621C= | CA2369155360 | SALL4 | c.2806G= (p.Glu936=) c.475G= (p.Glu159=) c.1495G= (p.Glu499=) c.2500G= (p.Glu834=) c.2680G= (p.Glu894=) | |
| 20 | g.51784621C>G | CA409006286 | SALL4 | c.2806G>C (p.Glu936Gln) c.475G>C (p.Glu159Gln) c.1495G>C (p.Glu499Gln) c.2500G>C (p.Glu834Gln) c.2680G>C (p.Glu894Gln) | gnomAD v4 |
| 20 | g.51784621C>T | CA9911995 | SALL4 | c.2806G>A (p.Glu936Lys) c.475G>A (p.Glu159Lys) c.1495G>A (p.Glu499Lys) c.2500G>A (p.Glu834Lys) c.2680G>A (p.Glu894Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784622G>A | CA9911996 | SALL4 | c.2805C>T (p.Ile935=) c.474C>T (p.Ile158=) c.1494C>T (p.Ile498=) c.2499C>T (p.Ile833=) c.2679C>T (p.Ile893=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784622G>C | CA409006287 | SALL4 | c.2805C>G (p.Ile935Met) c.474C>G (p.Ile158Met) c.1494C>G (p.Ile498Met) c.2499C>G (p.Ile833Met) c.2679C>G (p.Ile893Met) | gnomAD v4 |
| 20 | g.51784622G= | CA2369155361 | SALL4 | c.2805C= (p.Ile935=) c.474C= (p.Ile158=) c.1494C= (p.Ile498=) c.2499C= (p.Ile833=) c.2679C= (p.Ile893=) | |
| 20 | g.51784622G>T | CA511025880 | SALL4 | c.2805C>A (p.Ile935=) c.474C>A (p.Ile158=) c.1494C>A (p.Ile498=) c.2499C>A (p.Ile833=) c.2679C>A (p.Ile893=) | |
| 20 | g.51784623A= | CA2369155362 | SALL4 | c.2804T= (p.Ile935=) c.473T= (p.Ile158=) c.1493T= (p.Ile498=) c.2498T= (p.Ile833=) c.2678T= (p.Ile893=) | |
| 20 | g.51784623A>C | CA409006290 | SALL4 | c.2804T>G (p.Ile935Ser) c.473T>G (p.Ile158Ser) c.1493T>G (p.Ile498Ser) c.2498T>G (p.Ile833Ser) c.2678T>G (p.Ile893Ser) | |
| 20 | g.51784623A>G | CA409006288 | SALL4 | c.2804T>C (p.Ile935Thr) c.473T>C (p.Ile158Thr) c.1493T>C (p.Ile498Thr) c.2498T>C (p.Ile833Thr) c.2678T>C (p.Ile893Thr) | |
| 20 | g.51784623A>T | CA409006289 | SALL4 | c.2804T>A (p.Ile935Asn) c.473T>A (p.Ile158Asn) c.1493T>A (p.Ile498Asn) c.2498T>A (p.Ile833Asn) c.2678T>A (p.Ile893Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784624T>A | CA409006291 | SALL4 | c.2803A>T (p.Ile935Phe) c.472A>T (p.Ile158Phe) c.1492A>T (p.Ile498Phe) c.2497A>T (p.Ile833Phe) c.2677A>T (p.Ile893Phe) | gnomAD v4 |
| 20 | g.51784624T>C | CA9911997 | SALL4 | c.2803A>G (p.Ile935Val) c.472A>G (p.Ile158Val) c.1492A>G (p.Ile498Val) c.2497A>G (p.Ile833Val) c.2677A>G (p.Ile893Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784624T>G | CA409006292 | SALL4 | c.2803A>C (p.Ile935Leu) c.472A>C (p.Ile158Leu) c.1492A>C (p.Ile498Leu) c.2497A>C (p.Ile833Leu) c.2677A>C (p.Ile893Leu) | |
| 20 | g.51784624T= | CA2369155363 | SALL4 | c.2803A= (p.Ile935=) c.472A= (p.Ile158=) c.1492A= (p.Ile498=) c.2497A= (p.Ile833=) c.2677A= (p.Ile893=) | |
| 20 | g.51784625G>A | CA511025882 | SALL4 | c.2802C>T (p.Ala934=) c.471C>T (p.Ala157=) c.1491C>T (p.Ala497=) c.2496C>T (p.Ala832=) c.2676C>T (p.Ala892=) | |
| 20 | g.51784625G>C | CA511025883 | SALL4 | c.2802C>G (p.Ala934=) c.471C>G (p.Ala157=) c.1491C>G (p.Ala497=) c.2496C>G (p.Ala832=) c.2676C>G (p.Ala892=) | gnomAD v4 |
| 20 | g.51784625G>T | CA511025884 | SALL4 | c.2802C>A (p.Ala934=) c.471C>A (p.Ala157=) c.1491C>A (p.Ala497=) c.2496C>A (p.Ala832=) c.2676C>A (p.Ala892=) | |
| 20 | g.51784626G>A | CA409006293 | SALL4 | c.2801C>T (p.Ala934Val) c.470C>T (p.Ala157Val) c.1490C>T (p.Ala497Val) c.2495C>T (p.Ala832Val) c.2675C>T (p.Ala892Val) | |
| 20 | g.51784626G>C | CA409006294 | SALL4 | c.2801C>G (p.Ala934Gly) c.470C>G (p.Ala157Gly) c.1490C>G (p.Ala497Gly) c.2495C>G (p.Ala832Gly) c.2675C>G (p.Ala892Gly) | |
| 20 | g.51784626G>T | CA409006295 | SALL4 | c.2801C>A (p.Ala934Asp) c.470C>A (p.Ala157Asp) c.1490C>A (p.Ala497Asp) c.2495C>A (p.Ala832Asp) c.2675C>A (p.Ala892Asp) | |
| 20 | g.51784627C>A | CA409006298 | SALL4 | c.2800G>T (p.Ala934Ser) c.469G>T (p.Ala157Ser) c.1489G>T (p.Ala497Ser) c.2494G>T (p.Ala832Ser) c.2674G>T (p.Ala892Ser) | gnomAD v4 |
| 20 | g.51784627C>G | CA409006297 | SALL4 | c.2800G>C (p.Ala934Pro) c.469G>C (p.Ala157Pro) c.1489G>C (p.Ala497Pro) c.2494G>C (p.Ala832Pro) c.2674G>C (p.Ala892Pro) | |
| 20 | g.51784627C>T | CA409006296 | SALL4 | c.2800G>A (p.Ala934Thr) c.469G>A (p.Ala157Thr) c.1489G>A (p.Ala497Thr) c.2494G>A (p.Ala832Thr) c.2674G>A (p.Ala892Thr) | |
| 20 | g.51784628C>A | CA409006299 | SALL4 | c.2799G>T (p.Leu933Phe) c.468G>T (p.Leu156Phe) c.1488G>T (p.Leu496Phe) c.2493G>T (p.Leu831Phe) c.2673G>T (p.Leu891Phe) | |
| 20 | g.51784628C>G | CA409006300 | SALL4 | c.2799G>C (p.Leu933Phe) c.468G>C (p.Leu156Phe) c.1488G>C (p.Leu496Phe) c.2493G>C (p.Leu831Phe) c.2673G>C (p.Leu891Phe) | |
| 20 | g.51784628C>T | CA511025888 | SALL4 | c.2799G>A (p.Leu933=) c.468G>A (p.Leu156=) c.1488G>A (p.Leu496=) c.2493G>A (p.Leu831=) c.2673G>A (p.Leu891=) | |
| 20 | g.51784629A>C | CA409006301 | SALL4 | c.2798T>G (p.Leu933Trp) c.467T>G (p.Leu156Trp) c.1487T>G (p.Leu496Trp) c.2492T>G (p.Leu831Trp) c.2672T>G (p.Leu891Trp) | |
| 20 | g.51784629A>G | CA409006302 | SALL4 | c.2798T>C (p.Leu933Ser) c.467T>C (p.Leu156Ser) c.1487T>C (p.Leu496Ser) c.2492T>C (p.Leu831Ser) c.2672T>C (p.Leu891Ser) | |
| 20 | g.51784629A>T | CA409006303 | SALL4 | c.2798T>A (p.Leu933Ter) c.467T>A (p.Leu156Ter) c.1487T>A (p.Leu496Ter) c.2492T>A (p.Leu831Ter) c.2672T>A (p.Leu891Ter) | |
| 20 | g.51784630A= | CA2369155364 | SALL4 | c.2797T= (p.Leu933=) c.466T= (p.Leu156=) c.1486T= (p.Leu496=) c.2491T= (p.Leu831=) c.2671T= (p.Leu891=) | |
| 20 | g.51784630A>C | CA409006304 | SALL4 | c.2797T>G (p.Leu933Val) c.466T>G (p.Leu156Val) c.1486T>G (p.Leu496Val) c.2491T>G (p.Leu831Val) c.2671T>G (p.Leu891Val) | |
| 20 | g.51784630A>G | CA511025893 | SALL4 | c.2797T>C (p.Leu933=) c.466T>C (p.Leu156=) c.1486T>C (p.Leu496=) c.2491T>C (p.Leu831=) c.2671T>C (p.Leu891=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784630A>T | CA409006305 | SALL4 | c.2797T>A (p.Leu933Met) c.466T>A (p.Leu156Met) c.1486T>A (p.Leu496Met) c.2491T>A (p.Leu831Met) c.2671T>A (p.Leu891Met) | |
| 20 | g.51784631C>A | CA409006307 | SALL4 | c.2796G>T (p.Lys932Asn) c.465G>T (p.Lys155Asn) c.1485G>T (p.Lys495Asn) c.2490G>T (p.Lys830Asn) c.2670G>T (p.Lys890Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784631C= | CA2369155365 | SALL4 | c.2796G= (p.Lys932=) c.465G= (p.Lys155=) c.1485G= (p.Lys495=) c.2490G= (p.Lys830=) c.2670G= (p.Lys890=) | |
| 20 | g.51784631C>G | CA409006306 | SALL4 | c.2796G>C (p.Lys932Asn) c.465G>C (p.Lys155Asn) c.1485G>C (p.Lys495Asn) c.2490G>C (p.Lys830Asn) c.2670G>C (p.Lys890Asn) | |
| 20 | g.51784631C>T | CA511025894 | SALL4 | c.2796G>A (p.Lys932=) c.465G>A (p.Lys155=) c.1485G>A (p.Lys495=) c.2490G>A (p.Lys830=) c.2670G>A (p.Lys890=) | |
| 20 | g.51784632T>A | CA409006308 | SALL4 | c.2795A>T (p.Lys932Met) c.464A>T (p.Lys155Met) c.1484A>T (p.Lys495Met) c.2489A>T (p.Lys830Met) c.2669A>T (p.Lys890Met) | |
| 20 | g.51784632T>C | CA409006309 | SALL4 | c.2795A>G (p.Lys932Arg) c.464A>G (p.Lys155Arg) c.1484A>G (p.Lys495Arg) c.2489A>G (p.Lys830Arg) c.2669A>G (p.Lys890Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784632T>G | CA409006310 | SALL4 | c.2795A>C (p.Lys932Thr) c.464A>C (p.Lys155Thr) c.1484A>C (p.Lys495Thr) c.2489A>C (p.Lys830Thr) c.2669A>C (p.Lys890Thr) | |
| 20 | g.51784632T= | CA2369155366 | SALL4 | c.2795A= (p.Lys932=) c.464A= (p.Lys155=) c.1484A= (p.Lys495=) c.2489A= (p.Lys830=) c.2669A= (p.Lys890=) | |
| 20 | g.51784633T>A | CA409006311 | SALL4 | c.2794A>T (p.Lys932Ter) c.463A>T (p.Lys155Ter) c.1483A>T (p.Lys495Ter) c.2488A>T (p.Lys830Ter) c.2668A>T (p.Lys890Ter) | |
| 20 | g.51784633T>C | CA409006312 | SALL4 | c.2794A>G (p.Lys932Glu) c.463A>G (p.Lys155Glu) c.1483A>G (p.Lys495Glu) c.2488A>G (p.Lys830Glu) c.2668A>G (p.Lys890Glu) | dbSNP |
| 20 | g.51784633T>G | CA409006313 | SALL4 | c.2794A>C (p.Lys932Gln) c.463A>C (p.Lys155Gln) c.1483A>C (p.Lys495Gln) c.2488A>C (p.Lys830Gln) c.2668A>C (p.Lys890Gln) | |
| 20 | g.51784633T= | CA2369155367 | SALL4 | c.2794A= (p.Lys932=) c.463A= (p.Lys155=) c.1483A= (p.Lys495=) c.2488A= (p.Lys830=) c.2668A= (p.Lys890=) | |
| 20 | g.51784634C>A | CA409006314 | SALL4 | c.2793G>T (p.Arg931Ser) c.462G>T (p.Arg154Ser) c.1482G>T (p.Arg494Ser) c.2487G>T (p.Arg829Ser) c.2667G>T (p.Arg889Ser) | |
| 20 | g.51784634C= | CA2369155368 | SALL4 | c.2793G= (p.Arg931=) c.462G= (p.Arg154=) c.1482G= (p.Arg494=) c.2487G= (p.Arg829=) c.2667G= (p.Arg889=) | |
| 20 | g.51784634C>G | CA409006315 | SALL4 | c.2793G>C (p.Arg931Ser) c.462G>C (p.Arg154Ser) c.1482G>C (p.Arg494Ser) c.2487G>C (p.Arg829Ser) c.2667G>C (p.Arg889Ser) | |
| 20 | g.51784634C>T | CA9911998 | SALL4 | c.2793G>A (p.Arg931=) c.462G>A (p.Arg154=) c.1482G>A (p.Arg494=) c.2487G>A (p.Arg829=) c.2667G>A (p.Arg889=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784635C>A | CA409006316 | SALL4 | c.2792G>T (p.Arg931Met) c.461G>T (p.Arg154Met) c.1481G>T (p.Arg494Met) c.2486G>T (p.Arg829Met) c.2666G>T (p.Arg889Met) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784635C= | CA2369155369 | SALL4 | c.2792G= (p.Arg931=) c.461G= (p.Arg154=) c.1481G= (p.Arg494=) c.2486G= (p.Arg829=) c.2666G= (p.Arg889=) | |
| 20 | g.51784635C>G | CA409006317 | SALL4 | c.2792G>C (p.Arg931Thr) c.461G>C (p.Arg154Thr) c.1481G>C (p.Arg494Thr) c.2486G>C (p.Arg829Thr) c.2666G>C (p.Arg889Thr) | |
| 20 | g.51784635C>T | CA409006318 | SALL4 | c.2792G>A (p.Arg931Lys) c.461G>A (p.Arg154Lys) c.1481G>A (p.Arg494Lys) c.2486G>A (p.Arg829Lys) c.2666G>A (p.Arg889Lys) | ClinVar dbSNP gnomAD v4 |
| 20 | g.51784636T>A | CA409006319 | SALL4 | c.2791A>T (p.Arg931Trp) c.460A>T (p.Arg154Trp) c.1480A>T (p.Arg494Trp) c.2485A>T (p.Arg829Trp) c.2665A>T (p.Arg889Trp) | |
| 20 | g.51784636T>C | CA409006320 | SALL4 | c.2791A>G (p.Arg931Gly) c.460A>G (p.Arg154Gly) c.1480A>G (p.Arg494Gly) c.2485A>G (p.Arg829Gly) c.2665A>G (p.Arg889Gly) | |
| 20 | g.51784636T>G | CA511025899 | SALL4 | c.2791A>C (p.Arg931=) c.460A>C (p.Arg154=) c.1480A>C (p.Arg494=) c.2485A>C (p.Arg829=) c.2665A>C (p.Arg889=) | |
| 20 | g.51784637T>A | CA511025900 | SALL4 | c.2790A>T (p.Gly930=) c.459A>T (p.Gly153=) c.1479A>T (p.Gly493=) c.2484A>T (p.Gly828=) c.2664A>T (p.Gly888=) | |
| 20 | g.51784637T>C | CA511025902 | SALL4 | c.2790A>G (p.Gly930=) c.459A>G (p.Gly153=) c.1479A>G (p.Gly493=) c.2484A>G (p.Gly828=) c.2664A>G (p.Gly888=) | |
| 20 | g.51784637T>G | CA511025901 | SALL4 | c.2790A>C (p.Gly930=) c.459A>C (p.Gly153=) c.1479A>C (p.Gly493=) c.2484A>C (p.Gly828=) c.2664A>C (p.Gly888=) | |
| 20 | g.51784637_51784638delinsTC | CA2369155370 | SALL4 | c.2789_2790delinsGA (p.Gly930=) c.458_459delinsGA (p.Gly153=) c.1478_1479delinsGA (p.Gly493=) c.2483_2484delinsGA (p.Gly828=) c.2663_2664delinsGA (p.Gly888=) | |
| 20 | g.51784638C>A | CA409006321 | SALL4 | c.2789G>T (p.Gly930Val) c.458G>T (p.Gly153Val) c.1478G>T (p.Gly493Val) c.2483G>T (p.Gly828Val) c.2663G>T (p.Gly888Val) | |
| 20 | g.51784638C>G | CA409006322 | SALL4 | c.2789G>C (p.Gly930Ala) c.458G>C (p.Gly153Ala) c.1478G>C (p.Gly493Ala) c.2483G>C (p.Gly828Ala) c.2663G>C (p.Gly888Ala) | |
| 20 | g.51784638C>T | CA409006323 | SALL4 | c.2789G>A (p.Gly930Glu) c.458G>A (p.Gly153Glu) c.1478G>A (p.Gly493Glu) c.2483G>A (p.Gly828Glu) c.2663G>A (p.Gly888Glu) | |
| 20 | g.51784638_51784639delinsG | CA2695201413 | SALL4 | c.2788_2789delinsC (p.Gly930GlnfsTer13) c.457_458delinsC (p.Gly153GlnfsTer13) c.1477_1478delinsC (p.Gly493GlnfsTer13) c.2482_2483delinsC (p.Gly828GlnfsTer13) c.2662_2663delinsC (p.Gly888GlnfsTer13) | ClinVar |
| 20 | g.51784639del | CA9911999 | SALL4 | c.2789del (p.Gly930GlufsTer13) c.458del (p.Gly153GlufsTer13) c.1478del (p.Gly493GlufsTer13) c.2483del (p.Gly828GlufsTer13) c.2663del (p.Gly888GlufsTer13) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784639C>A | CA409006324 | SALL4 | c.2788G>T (p.Gly930Ter) c.457G>T (p.Gly153Ter) c.1477G>T (p.Gly493Ter) c.2482G>T (p.Gly828Ter) c.2662G>T (p.Gly888Ter) | |
| 20 | g.51784639C= | CA2369155371 | SALL4 | c.2788G= (p.Gly930=) c.457G= (p.Gly153=) c.1477G= (p.Gly493=) c.2482G= (p.Gly828=) c.2662G= (p.Gly888=) | |
| 20 | g.51784639C>G | CA9912000 | SALL4 | c.2788G>C (p.Gly930Arg) c.457G>C (p.Gly153Arg) c.1477G>C (p.Gly493Arg) c.2482G>C (p.Gly828Arg) c.2662G>C (p.Gly888Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784639C>T | CA409006325 | SALL4 | c.2788G>A (p.Gly930Arg) c.457G>A (p.Gly153Arg) c.1477G>A (p.Gly493Arg) c.2482G>A (p.Gly828Arg) c.2662G>A (p.Gly888Arg) | |
| 20 | g.51784640A>C | CA511025904 | SALL4 | c.2787T>G (p.Arg929=) c.456T>G (p.Arg152=) c.1476T>G (p.Arg492=) c.2481T>G (p.Arg827=) c.2661T>G (p.Arg887=) | |
| 20 | g.51784640A>G | CA511025905 | SALL4 | c.2787T>C (p.Arg929=) c.456T>C (p.Arg152=) c.1476T>C (p.Arg492=) c.2481T>C (p.Arg827=) c.2661T>C (p.Arg887=) | |
| 20 | g.51784640A>T | CA511025907 | SALL4 | c.2787T>A (p.Arg929=) c.456T>A (p.Arg152=) c.1476T>A (p.Arg492=) c.2481T>A (p.Arg827=) c.2661T>A (p.Arg887=) | |
| 20 | g.51784641C>A | CA409006327 | SALL4 | c.2786G>T (p.Arg929Leu) c.455G>T (p.Arg152Leu) c.1475G>T (p.Arg492Leu) c.2480G>T (p.Arg827Leu) c.2660G>T (p.Arg887Leu) | |
| 20 | g.51784641C= | CA2369155372 | SALL4 | c.2786G= (p.Arg929=) c.455G= (p.Arg152=) c.1475G= (p.Arg492=) c.2480G= (p.Arg827=) c.2660G= (p.Arg887=) | |
| 20 | g.51784641C>G | CA409006326 | SALL4 | c.2786G>C (p.Arg929Pro) c.455G>C (p.Arg152Pro) c.1475G>C (p.Arg492Pro) c.2480G>C (p.Arg827Pro) c.2660G>C (p.Arg887Pro) | |
| 20 | g.51784641C>T | CA315366370 | SALL4 | c.2786G>A (p.Arg929His) c.455G>A (p.Arg152His) c.1475G>A (p.Arg492His) c.2480G>A (p.Arg827His) c.2660G>A (p.Arg887His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784642G>A | CA9912001 | SALL4 | c.2785C>T (p.Arg929Cys) c.454C>T (p.Arg152Cys) c.1474C>T (p.Arg492Cys) c.2479C>T (p.Arg827Cys) c.2659C>T (p.Arg887Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784642G>C | CA409006328 | SALL4 | c.2785C>G (p.Arg929Gly) c.454C>G (p.Arg152Gly) c.1474C>G (p.Arg492Gly) c.2479C>G (p.Arg827Gly) c.2659C>G (p.Arg887Gly) | |
| 20 | g.51784642G= | CA2369155373 | SALL4 | c.2785C= (p.Arg929=) c.454C= (p.Arg152=) c.1474C= (p.Arg492=) c.2479C= (p.Arg827=) c.2659C= (p.Arg887=) | |
| 20 | g.51784642G>T | CA409006329 | SALL4 | c.2785C>A (p.Arg929Ser) c.454C>A (p.Arg152Ser) c.1474C>A (p.Arg492Ser) c.2479C>A (p.Arg827Ser) c.2659C>A (p.Arg887Ser) | |
| 20 | g.51784643G>A | CA511025908 | SALL4 | c.2784C>T (p.Arg928=) c.453C>T (p.Arg151=) c.1473C>T (p.Arg491=) c.2478C>T (p.Arg826=) c.2658C>T (p.Arg886=) | dbSNP gnomAD v4 COSMIC |
| 20 | g.51784643G>C | CA511025910 | SALL4 | c.2784C>G (p.Arg928=) c.453C>G (p.Arg151=) c.1473C>G (p.Arg491=) c.2478C>G (p.Arg826=) c.2658C>G (p.Arg886=) | |
| 20 | g.51784643G>T | CA511025909 | SALL4 | c.2784C>A (p.Arg928=) c.453C>A (p.Arg151=) c.1473C>A (p.Arg491=) c.2478C>A (p.Arg826=) c.2658C>A (p.Arg886=) | |
| 20 | g.51784644C>A | CA315366389 | SALL4 | c.2783G>T (p.Arg928Leu) c.452G>T (p.Arg151Leu) c.1472G>T (p.Arg491Leu) c.2477G>T (p.Arg826Leu) c.2657G>T (p.Arg886Leu) | dbSNP gnomAD v4 |
| 20 | g.51784644C= | CA2369155374 | SALL4 | c.2783G= (p.Arg928=) c.452G= (p.Arg151=) c.1472G= (p.Arg491=) c.2477G= (p.Arg826=) c.2657G= (p.Arg886=) | |
| 20 | g.51784644C>G | CA409006330 | SALL4 | c.2783G>C (p.Arg928Pro) c.452G>C (p.Arg151Pro) c.1472G>C (p.Arg491Pro) c.2477G>C (p.Arg826Pro) c.2657G>C (p.Arg886Pro) | |
| 20 | g.51784644C>T | CA9912002 | SALL4 | c.2783G>A (p.Arg928His) c.452G>A (p.Arg151His) c.1472G>A (p.Arg491His) c.2477G>A (p.Arg826His) c.2657G>A (p.Arg886His) | ClinVar dbSNP ExAC gnomAD v4 |
| 20 | g.51784645G>A | CA9912003 | SALL4 | c.2782C>T (p.Arg928Cys) c.451C>T (p.Arg151Cys) c.1471C>T (p.Arg491Cys) c.2476C>T (p.Arg826Cys) c.2656C>T (p.Arg886Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784645G>C | CA409006331 | SALL4 | c.2782C>G (p.Arg928Gly) c.451C>G (p.Arg151Gly) c.1471C>G (p.Arg491Gly) c.2476C>G (p.Arg826Gly) c.2656C>G (p.Arg886Gly) | dbSNP |
| 20 | g.51784645G= | CA2369155375 | SALL4 | c.2782C= (p.Arg928=) c.451C= (p.Arg151=) c.1471C= (p.Arg491=) c.2476C= (p.Arg826=) c.2656C= (p.Arg886=) | |
| 20 | g.51784645G>T | CA409006332 | SALL4 | c.2782C>A (p.Arg928Ser) c.451C>A (p.Arg151Ser) c.1471C>A (p.Arg491Ser) c.2476C>A (p.Arg826Ser) c.2656C>A (p.Arg886Ser) | |
| 20 | g.51784646G>A | CA315366406 | SALL4 | c.2781C>T (p.Ala927=) c.450C>T (p.Ala150=) c.1470C>T (p.Ala490=) c.2475C>T (p.Ala825=) c.2655C>T (p.Ala885=) | dbSNP gnomAD v4 |
| 20 | g.51784646G>C | CA511025913 | SALL4 | c.2781C>G (p.Ala927=) c.450C>G (p.Ala150=) c.1470C>G (p.Ala490=) c.2475C>G (p.Ala825=) c.2655C>G (p.Ala885=) | |
| 20 | g.51784646G= | CA2369155376 | SALL4 | c.2781C= (p.Ala927=) c.450C= (p.Ala150=) c.1470C= (p.Ala490=) c.2475C= (p.Ala825=) c.2655C= (p.Ala885=) | |
| 20 | g.51784646G>T | CA511025915 | SALL4 | c.2781C>A (p.Ala927=) c.450C>A (p.Ala150=) c.1470C>A (p.Ala490=) c.2475C>A (p.Ala825=) c.2655C>A (p.Ala885=) | |
| 20 | g.51784647G>A | CA409006333 | SALL4 | c.2780C>T (p.Ala927Val) c.449C>T (p.Ala150Val) c.1469C>T (p.Ala490Val) c.2474C>T (p.Ala825Val) c.2654C>T (p.Ala885Val) | gnomAD v4 |
| 20 | g.51784647G>C | CA409006334 | SALL4 | c.2780C>G (p.Ala927Gly) c.449C>G (p.Ala150Gly) c.1469C>G (p.Ala490Gly) c.2474C>G (p.Ala825Gly) c.2654C>G (p.Ala885Gly) | |
| 20 | g.51784647G>T | CA409006335 | SALL4 | c.2780C>A (p.Ala927Asp) c.449C>A (p.Ala150Asp) c.1469C>A (p.Ala490Asp) c.2474C>A (p.Ala825Asp) c.2654C>A (p.Ala885Asp) | gnomAD v4 |
| 20 | g.51784648C>A | CA409006338 | SALL4 | c.2779G>T (p.Ala927Ser) c.448G>T (p.Ala150Ser) c.1468G>T (p.Ala490Ser) c.2473G>T (p.Ala825Ser) c.2653G>T (p.Ala885Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784648C= | CA2369155377 | SALL4 | c.2779G= (p.Ala927=) c.448G= (p.Ala150=) c.1468G= (p.Ala490=) c.2473G= (p.Ala825=) c.2653G= (p.Ala885=) | |
| 20 | g.51784648C>G | CA409006336 | SALL4 | c.2779G>C (p.Ala927Pro) c.448G>C (p.Ala150Pro) c.1468G>C (p.Ala490Pro) c.2473G>C (p.Ala825Pro) c.2653G>C (p.Ala885Pro) | gnomAD v4 |
| 20 | g.51784648C>T | CA409006337 | SALL4 | c.2779G>A (p.Ala927Thr) c.448G>A (p.Ala150Thr) c.1468G>A (p.Ala490Thr) c.2473G>A (p.Ala825Thr) c.2653G>A (p.Ala885Thr) | |
| 20 | g.51784649T>A | CA511025917 | SALL4 | c.2778A>T (p.Ser926=) c.447A>T (p.Ser149=) c.1467A>T (p.Ser489=) c.2472A>T (p.Ser824=) c.2652A>T (p.Ser884=) | |
| 20 | g.51784649T>C | CA511025918 | SALL4 | c.2778A>G (p.Ser926=) c.447A>G (p.Ser149=) c.1467A>G (p.Ser489=) c.2472A>G (p.Ser824=) c.2652A>G (p.Ser884=) | |
| 20 | g.51784649T>G | CA511025919 | SALL4 | c.2778A>C (p.Ser926=) c.447A>C (p.Ser149=) c.1467A>C (p.Ser489=) c.2472A>C (p.Ser824=) c.2652A>C (p.Ser884=) | |
| 20 | g.51784650G>A | CA409006339 | SALL4 | c.2777C>T (p.Ser926Leu) c.446C>T (p.Ser149Leu) c.1466C>T (p.Ser489Leu) c.2471C>T (p.Ser824Leu) c.2651C>T (p.Ser884Leu) | gnomAD v4 |
| 20 | g.51784650G>C | CA409006340 | SALL4 | c.2777C>G (p.Ser926Ter) c.446C>G (p.Ser149Ter) c.1466C>G (p.Ser489Ter) c.2471C>G (p.Ser824Ter) c.2651C>G (p.Ser884Ter) | |
| 20 | g.51784650G>T | CA409006341 | SALL4 | c.2777C>A (p.Ser926Ter) c.446C>A (p.Ser149Ter) c.1466C>A (p.Ser489Ter) c.2471C>A (p.Ser824Ter) c.2651C>A (p.Ser884Ter) | |
| 20 | g.51784651_51784652del | CA2653358752 | SALL4 | c.2776_2777del (p.Ala927ProfsTer?) c.445_446del (p.Ala150ProfsTer?) c.1465_1466del (p.Ala490ProfsTer?) c.2470_2471del (p.Ala825ProfsTer?) c.2650_2651del (p.Ala885ProfsTer?) | gnomAD v4 |
| 20 | g.51784651A>C | CA409006342 | SALL4 | c.2776T>G (p.Ser926Ala) c.445T>G (p.Ser149Ala) c.1465T>G (p.Ser489Ala) c.2470T>G (p.Ser824Ala) c.2650T>G (p.Ser884Ala) | |
| 20 | g.51784651A>G | CA409006343 | SALL4 | c.2776T>C (p.Ser926Pro) c.445T>C (p.Ser149Pro) c.1465T>C (p.Ser489Pro) c.2470T>C (p.Ser824Pro) c.2650T>C (p.Ser884Pro) | |
| 20 | g.51784651A>T | CA409006344 | SALL4 | c.2776T>A (p.Ser926Thr) c.445T>A (p.Ser149Thr) c.1465T>A (p.Ser489Thr) c.2470T>A (p.Ser824Thr) c.2650T>A (p.Ser884Thr) | |
| 20 | g.51784652G>A | CA9912004 | SALL4 | c.2775C>T (p.Asn925=) c.444C>T (p.Asn148=) c.1464C>T (p.Asn488=) c.2469C>T (p.Asn823=) c.2649C>T (p.Asn883=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784652G>C | CA409006345 | SALL4 | c.2775C>G (p.Asn925Lys) c.444C>G (p.Asn148Lys) c.1464C>G (p.Asn488Lys) c.2469C>G (p.Asn823Lys) c.2649C>G (p.Asn883Lys) | |
| 20 | g.51784652G= | CA2369155378 | SALL4 | c.2775C= (p.Asn925=) c.444C= (p.Asn148=) c.1464C= (p.Asn488=) c.2469C= (p.Asn823=) c.2649C= (p.Asn883=) | |
| 20 | g.51784652G>T | CA409006346 | SALL4 | c.2775C>A (p.Asn925Lys) c.444C>A (p.Asn148Lys) c.1464C>A (p.Asn488Lys) c.2469C>A (p.Asn823Lys) c.2649C>A (p.Asn883Lys) | |
| 20 | g.51784653T>A | CA409006347 | SALL4 | c.2774A>T (p.Asn925Ile) c.443A>T (p.Asn148Ile) c.1463A>T (p.Asn488Ile) c.2468A>T (p.Asn823Ile) c.2648A>T (p.Asn883Ile) | |
| 20 | g.51784653T>C | CA9912005 | SALL4 | c.2774A>G (p.Asn925Ser) c.443A>G (p.Asn148Ser) c.1463A>G (p.Asn488Ser) c.2468A>G (p.Asn823Ser) c.2648A>G (p.Asn883Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784653T>G | CA409006348 | SALL4 | c.2774A>C (p.Asn925Thr) c.443A>C (p.Asn148Thr) c.1463A>C (p.Asn488Thr) c.2468A>C (p.Asn823Thr) c.2648A>C (p.Asn883Thr) | gnomAD v4 |
| 20 | g.51784653T= | CA2369155379 | SALL4 | c.2774A= (p.Asn925=) c.443A= (p.Asn148=) c.1463A= (p.Asn488=) c.2468A= (p.Asn823=) c.2648A= (p.Asn883=) | |
| 20 | g.51784654T>A | CA409006349 | SALL4 | c.2773A>T (p.Asn925Tyr) c.442A>T (p.Asn148Tyr) c.1462A>T (p.Asn488Tyr) c.2467A>T (p.Asn823Tyr) c.2647A>T (p.Asn883Tyr) | |
| 20 | g.51784654T>C | CA409006351 | SALL4 | c.2773A>G (p.Asn925Asp) c.442A>G (p.Asn148Asp) c.1462A>G (p.Asn488Asp) c.2467A>G (p.Asn823Asp) c.2647A>G (p.Asn883Asp) | |
| 20 | g.51784654T>G | CA409006350 | SALL4 | c.2773A>C (p.Asn925His) c.442A>C (p.Asn148His) c.1462A>C (p.Asn488His) c.2467A>C (p.Asn823His) c.2647A>C (p.Asn883His) | |
| 20 | g.51784655A>C | CA409006352 | SALL4 | c.2772T>G (p.Asn924Lys) c.441T>G (p.Asn147Lys) c.1461T>G (p.Asn487Lys) c.2466T>G (p.Asn822Lys) c.2646T>G (p.Asn882Lys) | |
| 20 | g.51784655A>G | CA511025927 | SALL4 | c.2772T>C (p.Asn924=) c.441T>C (p.Asn147=) c.1461T>C (p.Asn487=) c.2466T>C (p.Asn822=) c.2646T>C (p.Asn882=) | gnomAD v4 |
| 20 | g.51784655A>T | CA409006353 | SALL4 | c.2772T>A (p.Asn924Lys) c.441T>A (p.Asn147Lys) c.1461T>A (p.Asn487Lys) c.2466T>A (p.Asn822Lys) c.2646T>A (p.Asn882Lys) | |
| 20 | g.51784656T>A | CA409006354 | SALL4 | c.2771A>T (p.Asn924Ile) c.440A>T (p.Asn147Ile) c.1460A>T (p.Asn487Ile) c.2465A>T (p.Asn822Ile) c.2645A>T (p.Asn882Ile) | |
| 20 | g.51784656T>C | CA409006356 | SALL4 | c.2771A>G (p.Asn924Ser) c.440A>G (p.Asn147Ser) c.1460A>G (p.Asn487Ser) c.2465A>G (p.Asn822Ser) c.2645A>G (p.Asn882Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784656T>G | CA409006355 | SALL4 | c.2771A>C (p.Asn924Thr) c.440A>C (p.Asn147Thr) c.1460A>C (p.Asn487Thr) c.2465A>C (p.Asn822Thr) c.2645A>C (p.Asn882Thr) | |
| 20 | g.51784656T= | CA2369155380 | SALL4 | c.2771A= (p.Asn924=) c.440A= (p.Asn147=) c.1460A= (p.Asn487=) c.2465A= (p.Asn822=) c.2645A= (p.Asn882=) | |
| 20 | g.51784657T>A | CA409006357 | SALL4 | c.2770A>T (p.Asn924Tyr) c.439A>T (p.Asn147Tyr) c.1459A>T (p.Asn487Tyr) c.2464A>T (p.Asn822Tyr) c.2644A>T (p.Asn882Tyr) | |
| 20 | g.51784657T>C | CA409006358 | SALL4 | c.2770A>G (p.Asn924Asp) c.439A>G (p.Asn147Asp) c.1459A>G (p.Asn487Asp) c.2464A>G (p.Asn822Asp) c.2644A>G (p.Asn882Asp) | gnomAD v4 |
| 20 | g.51784657T>G | CA409006359 | SALL4 | c.2770A>C (p.Asn924His) c.439A>C (p.Asn147His) c.1459A>C (p.Asn487His) c.2464A>C (p.Asn822His) c.2644A>C (p.Asn882His) | |
| 20 | g.51784658G>A | CA315366422 | SALL4 | c.2769C>T (p.Asn923=) c.438C>T (p.Asn146=) c.1458C>T (p.Asn486=) c.2463C>T (p.Asn821=) c.2643C>T (p.Asn881=) | dbSNP gnomAD v4 |
| 20 | g.51784658G>C | CA409006360 | SALL4 | c.2769C>G (p.Asn923Lys) c.438C>G (p.Asn146Lys) c.1458C>G (p.Asn486Lys) c.2463C>G (p.Asn821Lys) c.2643C>G (p.Asn881Lys) | |
| 20 | g.51784658G= | CA2369155381 | SALL4 | c.2769C= (p.Asn923=) c.438C= (p.Asn146=) c.1458C= (p.Asn486=) c.2463C= (p.Asn821=) c.2643C= (p.Asn881=) | |
| 20 | g.51784658G>T | CA409006361 | SALL4 | c.2769C>A (p.Asn923Lys) c.438C>A (p.Asn146Lys) c.1458C>A (p.Asn486Lys) c.2463C>A (p.Asn821Lys) c.2643C>A (p.Asn881Lys) | |
| 20 | g.51784659T>A | CA409006362 | SALL4 | c.2768A>T (p.Asn923Ile) c.437A>T (p.Asn146Ile) c.1457A>T (p.Asn486Ile) c.2462A>T (p.Asn821Ile) c.2642A>T (p.Asn881Ile) | |
| 20 | g.51784659T>C | CA409006363 | SALL4 | c.2768A>G (p.Asn923Ser) c.437A>G (p.Asn146Ser) c.1457A>G (p.Asn486Ser) c.2462A>G (p.Asn821Ser) c.2642A>G (p.Asn881Ser) | |
| 20 | g.51784659T>G | CA409006364 | SALL4 | c.2768A>C (p.Asn923Thr) c.437A>C (p.Asn146Thr) c.1457A>C (p.Asn486Thr) c.2462A>C (p.Asn821Thr) c.2642A>C (p.Asn881Thr) | |
| 20 | g.51784660T>A | CA409006365 | SALL4 | c.2767A>T (p.Asn923Tyr) c.436A>T (p.Asn146Tyr) c.1456A>T (p.Asn486Tyr) c.2461A>T (p.Asn821Tyr) c.2641A>T (p.Asn881Tyr) | |
| 20 | g.51784660T>C | CA409006366 | SALL4 | c.2767A>G (p.Asn923Asp) c.436A>G (p.Asn146Asp) c.1456A>G (p.Asn486Asp) c.2461A>G (p.Asn821Asp) c.2641A>G (p.Asn881Asp) | |
| 20 | g.51784660T>G | CA409006367 | SALL4 | c.2767A>C (p.Asn923His) c.436A>C (p.Asn146His) c.1456A>C (p.Asn486His) c.2461A>C (p.Asn821His) c.2641A>C (p.Asn881His) | |
| 20 | g.51784661C>A | CA511025933 | SALL4 | c.2766G>T (p.Ala922=) c.435G>T (p.Ala145=) c.1455G>T (p.Ala485=) c.2460G>T (p.Ala820=) c.2640G>T (p.Ala880=) | dbSNP gnomAD v4 |
| 20 | g.51784661C= | CA2369155382 | SALL4 | c.2766G= (p.Ala922=) c.435G= (p.Ala145=) c.1455G= (p.Ala485=) c.2460G= (p.Ala820=) c.2640G= (p.Ala880=) | |
| 20 | g.51784661C>G | CA511025934 | SALL4 | c.2766G>C (p.Ala922=) c.435G>C (p.Ala145=) c.1455G>C (p.Ala485=) c.2460G>C (p.Ala820=) c.2640G>C (p.Ala880=) | |
| 20 | g.51784661C>T | CA9912006 | SALL4 | c.2766G>A (p.Ala922=) c.435G>A (p.Ala145=) c.1455G>A (p.Ala485=) c.2460G>A (p.Ala820=) c.2640G>A (p.Ala880=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784662G>A | CA9912008 | SALL4 | c.2765C>T (p.Ala922Val) c.434C>T (p.Ala145Val) c.1454C>T (p.Ala485Val) c.2459C>T (p.Ala820Val) c.2639C>T (p.Ala880Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784662G>C | CA409006368 | SALL4 | c.2765C>G (p.Ala922Gly) c.434C>G (p.Ala145Gly) c.1454C>G (p.Ala485Gly) c.2459C>G (p.Ala820Gly) c.2639C>G (p.Ala880Gly) | |
| 20 | g.51784662G= | CA2369155384 | SALL4 | c.2765C= (p.Ala922=) c.434C= (p.Ala145=) c.1454C= (p.Ala485=) c.2459C= (p.Ala820=) c.2639C= (p.Ala880=) | |
| 20 | g.51784662G>T | CA409006369 | SALL4 | c.2765C>A (p.Ala922Glu) c.434C>A (p.Ala145Glu) c.1454C>A (p.Ala485Glu) c.2459C>A (p.Ala820Glu) c.2639C>A (p.Ala880Glu) | |
| 20 | g.51784662_51784663delinsGC | CA2369155383 | SALL4 | c.2764_2765delinsGC (p.Ala922=) c.433_434delinsGC (p.Ala145=) c.1453_1454delinsGC (p.Ala485=) c.2458_2459delinsGC (p.Ala820=) c.2638_2639delinsGC (p.Ala880=) | |
| 20 | g.51784663C>A | CA409006370 | SALL4 | c.2764G>T (p.Ala922Ser) c.433G>T (p.Ala145Ser) c.1453G>T (p.Ala485Ser) c.2458G>T (p.Ala820Ser) c.2638G>T (p.Ala880Ser) | |
| 20 | g.51784663C= | CA2369155385 | SALL4 | c.2764G= (p.Ala922=) c.433G= (p.Ala145=) c.1453G= (p.Ala485=) c.2458G= (p.Ala820=) c.2638G= (p.Ala880=) | |
| 20 | g.51784663C>G | CA409006371 | SALL4 | c.2764G>C (p.Ala922Pro) c.433G>C (p.Ala145Pro) c.1453G>C (p.Ala485Pro) c.2458G>C (p.Ala820Pro) c.2638G>C (p.Ala880Pro) | |
| 20 | g.51784663C>T | CA409006372 | SALL4 | c.2764G>A (p.Ala922Thr) c.433G>A (p.Ala145Thr) c.1453G>A (p.Ala485Thr) c.2458G>A (p.Ala820Thr) c.2638G>A (p.Ala880Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784666del | CA9912007 | SALL4 | c.2764del (p.Ala922ArgfsTer21) c.433del (p.Ala145ArgfsTer21) c.1453del (p.Ala485ArgfsTer21) c.2458del (p.Ala820ArgfsTer21) c.2638del (p.Ala880ArgfsTer21) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784664C>A | CA511025938 | SALL4 | c.2763G>T (p.Gly921=) c.432G>T (p.Gly144=) c.1452G>T (p.Gly484=) c.2457G>T (p.Gly819=) c.2637G>T (p.Gly879=) | |
| 20 | g.51784664C>G | CA511025939 | SALL4 | c.2763G>C (p.Gly921=) c.432G>C (p.Gly144=) c.1452G>C (p.Gly484=) c.2457G>C (p.Gly819=) c.2637G>C (p.Gly879=) | |
| 20 | g.51784664C>T | CA511025940 | SALL4 | c.2763G>A (p.Gly921=) c.432G>A (p.Gly144=) c.1452G>A (p.Gly484=) c.2457G>A (p.Gly819=) c.2637G>A (p.Gly879=) | |
| 20 | g.51784665C>A | CA409006373 | SALL4 | c.2762G>T (p.Gly921Val) c.431G>T (p.Gly144Val) c.1451G>T (p.Gly484Val) c.2456G>T (p.Gly819Val) c.2636G>T (p.Gly879Val) | |
| 20 | g.51784665C= | CA2369155386 | SALL4 | c.2762G= (p.Gly921=) c.431G= (p.Gly144=) c.1451G= (p.Gly484=) c.2456G= (p.Gly819=) c.2636G= (p.Gly879=) | |
| 20 | g.51784665C>G | CA409006374 | SALL4 | c.2762G>C (p.Gly921Ala) c.431G>C (p.Gly144Ala) c.1451G>C (p.Gly484Ala) c.2456G>C (p.Gly819Ala) c.2636G>C (p.Gly879Ala) | |
| 20 | g.51784665C>T | CA409006375 | SALL4 | c.2762G>A (p.Gly921Glu) c.431G>A (p.Gly144Glu) c.1451G>A (p.Gly484Glu) c.2456G>A (p.Gly819Glu) c.2636G>A (p.Gly879Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784666C>A | CA409006376 | SALL4 | c.2761G>T (p.Gly921Trp) c.430G>T (p.Gly144Trp) c.1450G>T (p.Gly484Trp) c.2455G>T (p.Gly819Trp) c.2635G>T (p.Gly879Trp) | |
| 20 | g.51784666C= | CA2369155387 | SALL4 | c.2761G= (p.Gly921=) c.430G= (p.Gly144=) c.1450G= (p.Gly484=) c.2455G= (p.Gly819=) c.2635G= (p.Gly879=) | |
| 20 | g.51784666C>G | CA409006377 | SALL4 | c.2761G>C (p.Gly921Arg) c.430G>C (p.Gly144Arg) c.1450G>C (p.Gly484Arg) c.2455G>C (p.Gly819Arg) c.2635G>C (p.Gly879Arg) | |
| 20 | g.51784666C>T | CA9912009 | SALL4 | c.2761G>A (p.Gly921Arg) c.430G>A (p.Gly144Arg) c.1450G>A (p.Gly484Arg) c.2455G>A (p.Gly819Arg) c.2635G>A (p.Gly879Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784667G>A | CA9912010 | SALL4 | c.2760C>T (p.His920=) c.429C>T (p.His143=) c.1449C>T (p.His483=) c.2454C>T (p.His818=) c.2634C>T (p.His878=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.51784667G>C | CA409006379 | SALL4 | c.2760C>G (p.His920Gln) c.429C>G (p.His143Gln) c.1449C>G (p.His483Gln) c.2454C>G (p.His818Gln) c.2634C>G (p.His878Gln) | |
| 20 | g.51784667G= | CA2369155388 | SALL4 | c.2760C= (p.His920=) c.429C= (p.His143=) c.1449C= (p.His483=) c.2454C= (p.His818=) c.2634C= (p.His878=) | |
| 20 | g.51784667G>T | CA409006378 | SALL4 | c.2760C>A (p.His920Gln) c.429C>A (p.His143Gln) c.1449C>A (p.His483Gln) c.2454C>A (p.His818Gln) c.2634C>A (p.His878Gln) | |
| 20 | g.51784668T>A | CA409006380 | SALL4 | c.2759A>T (p.His920Leu) c.428A>T (p.His143Leu) c.1448A>T (p.His483Leu) c.2453A>T (p.His818Leu) c.2633A>T (p.His878Leu) | |
| 20 | g.51784668T>C | CA409006381 | SALL4 | c.2759A>G (p.His920Arg) c.428A>G (p.His143Arg) c.1448A>G (p.His483Arg) c.2453A>G (p.His818Arg) c.2633A>G (p.His878Arg) | |
| 20 | g.51784668T>G | CA409006382 | SALL4 | c.2759A>C (p.His920Pro) c.428A>C (p.His143Pro) c.1448A>C (p.His483Pro) c.2453A>C (p.His818Pro) c.2633A>C (p.His878Pro) | |
| 20 | g.51784669G>A | CA409006383 | SALL4 | c.2758C>T (p.His920Tyr) c.427C>T (p.His143Tyr) c.1447C>T (p.His483Tyr) c.2452C>T (p.His818Tyr) c.2632C>T (p.His878Tyr) | |
| 20 | g.51784669G>C | CA409006384 | SALL4 | c.2758C>G (p.His920Asp) c.427C>G (p.His143Asp) c.1447C>G (p.His483Asp) c.2452C>G (p.His818Asp) c.2632C>G (p.His878Asp) | |
| 20 | g.51784669G>T | CA409006385 | SALL4 | c.2758C>A (p.His920Asn) c.427C>A (p.His143Asn) c.1447C>A (p.His483Asn) c.2452C>A (p.His818Asn) c.2632C>A (p.His878Asn) | |
| 20 | g.51784670T>A | CA511025948 | SALL4 | c.2757A>T (p.Thr919=) c.426A>T (p.Thr142=) c.1446A>T (p.Thr482=) c.2451A>T (p.Thr817=) c.2631A>T (p.Thr877=) | |
| 20 | g.51784670T>C | CA511025947 | SALL4 | c.2757A>G (p.Thr919=) c.426A>G (p.Thr142=) c.1446A>G (p.Thr482=) c.2451A>G (p.Thr817=) c.2631A>G (p.Thr877=) | |
| 20 | g.51784670T>G | CA511025946 | SALL4 | c.2757A>C (p.Thr919=) c.426A>C (p.Thr142=) c.1446A>C (p.Thr482=) c.2451A>C (p.Thr817=) c.2631A>C (p.Thr877=) | |
| 20 | g.51784671G>A | CA409006386 | SALL4 | c.2756C>T (p.Thr919Ile) c.425C>T (p.Thr142Ile) c.1445C>T (p.Thr482Ile) c.2450C>T (p.Thr817Ile) c.2630C>T (p.Thr877Ile) | |
| 20 | g.51784671G>C | CA409006387 | SALL4 | c.2756C>G (p.Thr919Arg) c.425C>G (p.Thr142Arg) c.1445C>G (p.Thr482Arg) c.2450C>G (p.Thr817Arg) c.2630C>G (p.Thr877Arg) | |
| 20 | g.51784671G>T | CA409006388 | SALL4 | c.2756C>A (p.Thr919Lys) c.425C>A (p.Thr142Lys) c.1445C>A (p.Thr482Lys) c.2450C>A (p.Thr817Lys) c.2630C>A (p.Thr877Lys) | |
| 20 | g.51784672T>A | CA409006389 | SALL4 | c.2755A>T (p.Thr919Ser) c.424A>T (p.Thr142Ser) c.1444A>T (p.Thr482Ser) c.2449A>T (p.Thr817Ser) c.2629A>T (p.Thr877Ser) | |
| 20 | g.51784672T>C | CA409006390 | SALL4 | c.2755A>G (p.Thr919Ala) c.424A>G (p.Thr142Ala) c.1444A>G (p.Thr482Ala) c.2449A>G (p.Thr817Ala) c.2629A>G (p.Thr877Ala) | |
| 20 | g.51784672T>G | CA409006391 | SALL4 | c.2755A>C (p.Thr919Pro) c.424A>C (p.Thr142Pro) c.1444A>C (p.Thr482Pro) c.2449A>C (p.Thr817Pro) c.2629A>C (p.Thr877Pro) | |
| 20 | g.51784673C>A | CA409006394 | SALL4 | c.2754G>T (p.Met918Ile) c.423G>T (p.Met141Ile) c.1443G>T (p.Met481Ile) c.2448G>T (p.Met816Ile) c.2628G>T (p.Met876Ile) | |
| 20 | g.51784673C>G | CA409006392 | SALL4 | c.2754G>C (p.Met918Ile) c.423G>C (p.Met141Ile) c.1443G>C (p.Met481Ile) c.2448G>C (p.Met816Ile) c.2628G>C (p.Met876Ile) | |
| 20 | g.51784673C>T | CA409006393 | SALL4 | c.2754G>A (p.Met918Ile) c.423G>A (p.Met141Ile) c.1443G>A (p.Met481Ile) c.2448G>A (p.Met816Ile) c.2628G>A (p.Met876Ile) | COSMIC |
| 20 | g.51784674A= | CA2369155389 | SALL4 | c.2753T= (p.Met918=) c.422T= (p.Met141=) c.1442T= (p.Met481=) c.2447T= (p.Met816=) c.2627T= (p.Met876=) | |
| 20 | g.51784674A>C | CA409006395 | SALL4 | c.2753T>G (p.Met918Arg) c.422T>G (p.Met141Arg) c.1442T>G (p.Met481Arg) c.2447T>G (p.Met816Arg) c.2627T>G (p.Met876Arg) | |
| 20 | g.51784674A>G | CA9912011 | SALL4 | c.2753T>C (p.Met918Thr) c.422T>C (p.Met141Thr) c.1442T>C (p.Met481Thr) c.2447T>C (p.Met816Thr) c.2627T>C (p.Met876Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784674A>T | CA409006396 | SALL4 | c.2753T>A (p.Met918Lys) c.422T>A (p.Met141Lys) c.1442T>A (p.Met481Lys) c.2447T>A (p.Met816Lys) c.2627T>A (p.Met876Lys) | |
| 20 | g.51784675T>A | CA9912012 | SALL4 | c.2752A>T (p.Met918Leu) c.421A>T (p.Met141Leu) c.1441A>T (p.Met481Leu) c.2446A>T (p.Met816Leu) c.2626A>T (p.Met876Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784675T>C | CA315366495 | SALL4 | c.2752A>G (p.Met918Val) c.421A>G (p.Met141Val) c.1441A>G (p.Met481Val) c.2446A>G (p.Met816Val) c.2626A>G (p.Met876Val) | dbSNP |
| 20 | g.51784675T>G | CA409006397 | SALL4 | c.2752A>C (p.Met918Leu) c.421A>C (p.Met141Leu) c.1441A>C (p.Met481Leu) c.2446A>C (p.Met816Leu) c.2626A>C (p.Met876Leu) | |
| 20 | g.51784675T= | CA2369155390 | SALL4 | c.2752A= (p.Met918=) c.421A= (p.Met141=) c.1441A= (p.Met481=) c.2446A= (p.Met816=) c.2626A= (p.Met876=) | |
| 20 | g.51784676G>A | CA9912013 | SALL4 | c.2751C>T (p.Tyr917=) c.420C>T (p.Tyr140=) c.1440C>T (p.Tyr480=) c.2445C>T (p.Tyr815=) c.2625C>T (p.Tyr875=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784676G>C | CA409006398 | SALL4 | c.2751C>G (p.Tyr917Ter) c.420C>G (p.Tyr140Ter) c.1440C>G (p.Tyr480Ter) c.2445C>G (p.Tyr815Ter) c.2625C>G (p.Tyr875Ter) | |
| 20 | g.51784676G= | CA2369155391 | SALL4 | c.2751C= (p.Tyr917=) c.420C= (p.Tyr140=) c.1440C= (p.Tyr480=) c.2445C= (p.Tyr815=) c.2625C= (p.Tyr875=) | |
| 20 | g.51784676G>T | CA409006399 | SALL4 | c.2751C>A (p.Tyr917Ter) c.420C>A (p.Tyr140Ter) c.1440C>A (p.Tyr480Ter) c.2445C>A (p.Tyr815Ter) c.2625C>A (p.Tyr875Ter) | |
| 20 | g.51784677T>A | CA409006400 | SALL4 | c.2750A>T (p.Tyr917Phe) c.419A>T (p.Tyr140Phe) c.1439A>T (p.Tyr480Phe) c.2444A>T (p.Tyr815Phe) c.2624A>T (p.Tyr875Phe) | |
| 20 | g.51784677T>C | CA409006401 | SALL4 | c.2750A>G (p.Tyr917Cys) c.419A>G (p.Tyr140Cys) c.1439A>G (p.Tyr480Cys) c.2444A>G (p.Tyr815Cys) c.2624A>G (p.Tyr875Cys) | gnomAD v4 |
| 20 | g.51784677T>G | CA409006402 | SALL4 | c.2750A>C (p.Tyr917Ser) c.419A>C (p.Tyr140Ser) c.1439A>C (p.Tyr480Ser) c.2444A>C (p.Tyr815Ser) c.2624A>C (p.Tyr875Ser) | |
| 20 | g.51784678A>C | CA409006404 | SALL4 | c.2749T>G (p.Tyr917Asp) c.418T>G (p.Tyr140Asp) c.1438T>G (p.Tyr480Asp) c.2443T>G (p.Tyr815Asp) c.2623T>G (p.Tyr875Asp) | |
| 20 | g.51784678A>G | CA409006405 | SALL4 | c.2749T>C (p.Tyr917His) c.418T>C (p.Tyr140His) c.1438T>C (p.Tyr480His) c.2443T>C (p.Tyr815His) c.2623T>C (p.Tyr875His) | |
| 20 | g.51784678A>T | CA409006403 | SALL4 | c.2749T>A (p.Tyr917Asn) c.418T>A (p.Tyr140Asn) c.1438T>A (p.Tyr480Asn) c.2443T>A (p.Tyr815Asn) c.2623T>A (p.Tyr875Asn) | |
| 20 | g.51784679G>A | CA511025957 | SALL4 | c.2748C>T (p.His916=) c.417C>T (p.His139=) c.1437C>T (p.His479=) c.2442C>T (p.His814=) c.2622C>T (p.His874=) | |
| 20 | g.51784679G>C | CA409006407 | SALL4 | c.2748C>G (p.His916Gln) c.417C>G (p.His139Gln) c.1437C>G (p.His479Gln) c.2442C>G (p.His814Gln) c.2622C>G (p.His874Gln) | |
| 20 | g.51784679G>T | CA409006406 | SALL4 | c.2748C>A (p.His916Gln) c.417C>A (p.His139Gln) c.1437C>A (p.His479Gln) c.2442C>A (p.His814Gln) c.2622C>A (p.His874Gln) | |
| 20 | g.51784680T>A | CA409006408 | SALL4 | c.2747A>T (p.His916Leu) c.416A>T (p.His139Leu) c.1436A>T (p.His479Leu) c.2441A>T (p.His814Leu) c.2621A>T (p.His874Leu) | |
| 20 | g.51784680T>C | CA409006409 | SALL4 | c.2747A>G (p.His916Arg) c.416A>G (p.His139Arg) c.1436A>G (p.His479Arg) c.2441A>G (p.His814Arg) c.2621A>G (p.His874Arg) | |
| 20 | g.51784680T>G | CA409006410 | SALL4 | c.2747A>C (p.His916Pro) c.416A>C (p.His139Pro) c.1436A>C (p.His479Pro) c.2441A>C (p.His814Pro) c.2621A>C (p.His874Pro) | |
| 20 | g.51784681G>A | CA315366512 | SALL4 | c.2746C>T (p.His916Tyr) c.415C>T (p.His139Tyr) c.1435C>T (p.His479Tyr) c.2440C>T (p.His814Tyr) c.2620C>T (p.His874Tyr) | dbSNP COSMIC |
| 20 | g.51784681G>C | CA409006411 | SALL4 | c.2746C>G (p.His916Asp) c.415C>G (p.His139Asp) c.1435C>G (p.His479Asp) c.2440C>G (p.His814Asp) c.2620C>G (p.His874Asp) | |
| 20 | g.51784681G= | CA2369155392 | SALL4 | c.2746C= (p.His916=) c.415C= (p.His139=) c.1435C= (p.His479=) c.2440C= (p.His814=) c.2620C= (p.His874=) | |
| 20 | g.51784681G>T | CA409006412 | SALL4 | c.2746C>A (p.His916Asn) c.415C>A (p.His139Asn) c.1435C>A (p.His479Asn) c.2440C>A (p.His814Asn) c.2620C>A (p.His874Asn) | |
| 20 | g.51784682A>C | CA511025960 | SALL4 | c.2745T>G (p.Val915=) c.414T>G (p.Val138=) c.1434T>G (p.Val478=) c.2439T>G (p.Val813=) c.2619T>G (p.Val873=) | |
| 20 | g.51784682A>G | CA511025962 | SALL4 | c.2745T>C (p.Val915=) c.414T>C (p.Val138=) c.1434T>C (p.Val478=) c.2439T>C (p.Val813=) c.2619T>C (p.Val873=) | gnomAD v4 |
| 20 | g.51784682A>T | CA511025963 | SALL4 | c.2745T>A (p.Val915=) c.414T>A (p.Val138=) c.1434T>A (p.Val478=) c.2439T>A (p.Val813=) c.2619T>A (p.Val873=) | |
| 20 | g.51784683A>C | CA409006413 | SALL4 | c.2744T>G (p.Val915Gly) c.413T>G (p.Val138Gly) c.1433T>G (p.Val478Gly) c.2438T>G (p.Val813Gly) c.2618T>G (p.Val873Gly) | |
| 20 | g.51784683A>G | CA409006414 | SALL4 | c.2744T>C (p.Val915Ala) c.413T>C (p.Val138Ala) c.1433T>C (p.Val478Ala) c.2438T>C (p.Val813Ala) c.2618T>C (p.Val873Ala) | |
| 20 | g.51784683A>T | CA409006415 | SALL4 | c.2744T>A (p.Val915Asp) c.413T>A (p.Val138Asp) c.1433T>A (p.Val478Asp) c.2438T>A (p.Val813Asp) c.2618T>A (p.Val873Asp) | |
| 20 | g.51784684C>A | CA409006416 | SALL4 | c.2743G>T (p.Val915Phe) c.412G>T (p.Val138Phe) c.1432G>T (p.Val478Phe) c.2437G>T (p.Val813Phe) c.2617G>T (p.Val873Phe) | |
| 20 | g.51784684C= | CA2369155393 | SALL4 | c.2743G= (p.Val915=) c.412G= (p.Val138=) c.1432G= (p.Val478=) c.2437G= (p.Val813=) c.2617G= (p.Val873=) | |
| 20 | g.51784684C>G | CA409006417 | SALL4 | c.2743G>C (p.Val915Leu) c.412G>C (p.Val138Leu) c.1432G>C (p.Val478Leu) c.2437G>C (p.Val813Leu) c.2617G>C (p.Val873Leu) | |
| 20 | g.51784684C>T | CA409006418 | SALL4 | c.2743G>A (p.Val915Ile) c.412G>A (p.Val138Ile) c.1432G>A (p.Val478Ile) c.2437G>A (p.Val813Ile) c.2617G>A (p.Val873Ile) | dbSNP gnomAD v4 |
| 20 | g.51784685C>A | CA409006421 | SALL4 | c.2743-1G>T (n.2743-1G>T) c.412-1G>T (n.412-1G>T) c.1432-1G>T (n.1432-1G>T) c.2437-1G>T (n.2437-1G>T) c.2617-1G>T (n.2617-1G>T) | |
| 20 | g.51784685C>G | CA409006419 | SALL4 | c.2743-1G>C (n.2743-1G>C) c.412-1G>C (n.412-1G>C) c.1432-1G>C (n.1432-1G>C) c.2437-1G>C (n.2437-1G>C) c.2617-1G>C (n.2617-1G>C) | |
| 20 | g.51784685C>T | CA409006420 | SALL4 | c.2743-1G>A (n.2743-1G>A) c.412-1G>A (n.412-1G>A) c.1432-1G>A (n.1432-1G>A) c.2437-1G>A (n.2437-1G>A) c.2617-1G>A (n.2617-1G>A) | |
| 20 | g.51784686T>A | CA409006422 | SALL4 | c.2743-2A>T (n.2743-2A>T) c.412-2A>T (n.412-2A>T) c.1432-2A>T (n.1432-2A>T) c.2437-2A>T (n.2437-2A>T) c.2617-2A>T (n.2617-2A>T) | |
| 20 | g.51784686T>C | CA409006423 | SALL4 | c.2743-2A>G (n.2743-2A>G) c.412-2A>G (n.412-2A>G) c.1432-2A>G (n.1432-2A>G) c.2437-2A>G (n.2437-2A>G) c.2617-2A>G (n.2617-2A>G) | |
| 20 | g.51784686T>G | CA409006424 | SALL4 | c.2743-2A>C (n.2743-2A>C) c.412-2A>C (n.412-2A>C) c.1432-2A>C (n.1432-2A>C) c.2437-2A>C (n.2437-2A>C) c.2617-2A>C (n.2617-2A>C) | |
| 20 | g.51784687A= | CA2369155394 | SALL4 | c.2743-3T= (n.2743-3T=) c.412-3T= (n.412-3T=) c.1432-3T= (n.1432-3T=) c.2437-3T= (n.2437-3T=) c.2617-3T= (n.2617-3T=) | |
| 20 | g.51784687A>G | CA9912014 | SALL4 | c.2743-3T>C (n.2743-3T>C) c.412-3T>C (n.412-3T>C) c.1432-3T>C (n.1432-3T>C) c.2437-3T>C (n.2437-3T>C) c.2617-3T>C (n.2617-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784688T>C | CA9912015 | SALL4 | c.2743-4A>G (n.2743-4A>G) c.412-4A>G (n.412-4A>G) c.1432-4A>G (n.1432-4A>G) c.2437-4A>G (n.2437-4A>G) c.2617-4A>G (n.2617-4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784688T>G | CA745390433 | SALL4 | c.2743-4A>C (n.2743-4A>C) c.412-4A>C (n.412-4A>C) c.1432-4A>C (n.1432-4A>C) c.2437-4A>C (n.2437-4A>C) c.2617-4A>C (n.2617-4A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784688T= | CA2369155396 | SALL4 | c.2743-4A= (n.2743-4A=) c.412-4A= (n.412-4A=) c.1432-4A= (n.1432-4A=) c.2437-4A= (n.2437-4A=) c.2617-4A= (n.2617-4A=) | |
| 20 | g.51784688_51784689delinsTG | CA2369155395 | SALL4 | c.2743-5_2743-4delinsCA (n.2743-5_2743-4delinsCA) c.412-5_412-4delinsCA (n.412-5_412-4delinsCA) c.1432-5_1432-4delinsCA (n.1432-5_1432-4delinsCA) c.2437-5_2437-4delinsCA (n.2437-5_2437-4delinsCA) c.2617-5_2617-4delinsCA (n.2617-5_2617-4delinsCA) | |
| 20 | g.51784689G>A | CA9912016 | SALL4 | c.2743-5C>T (n.2743-5C>T) c.412-5C>T (n.412-5C>T) c.1432-5C>T (n.1432-5C>T) c.2437-5C>T (n.2437-5C>T) c.2617-5C>T (n.2617-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784689G>C | CA636172348 | SALL4 | c.2743-5C>G (n.2743-5C>G) c.412-5C>G (n.412-5C>G) c.1432-5C>G (n.1432-5C>G) c.2437-5C>G (n.2437-5C>G) c.2617-5C>G (n.2617-5C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784689G= | CA2369155397 | SALL4 | c.2743-5C= (n.2743-5C=) c.412-5C= (n.412-5C=) c.1432-5C= (n.1432-5C=) c.2437-5C= (n.2437-5C=) c.2617-5C= (n.2617-5C=) | |
| 20 | g.51784691del | CA636172347 | SALL4 | c.2743-5del (n.2743-5del) c.412-5del (n.412-5del) c.1432-5del (n.1432-5del) c.2437-5del (n.2437-5del) c.2617-5del (n.2617-5del) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784690G>A | CA2653358753 | SALL4 | c.2743-6C>T (n.2743-6C>T) c.412-6C>T (n.412-6C>T) c.1432-6C>T (n.1432-6C>T) c.2437-6C>T (n.2437-6C>T) c.2617-6C>T (n.2617-6C>T) | gnomAD v4 |
| 20 | g.51784691G>A | CA1018374779 | SALL4 | c.2743-7C>T (n.2743-7C>T) c.412-7C>T (n.412-7C>T) c.1432-7C>T (n.1432-7C>T) c.2437-7C>T (n.2437-7C>T) c.2617-7C>T (n.2617-7C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784691G>C | CA2653358754 | SALL4 | c.2743-7C>G (n.2743-7C>G) c.412-7C>G (n.412-7C>G) c.1432-7C>G (n.1432-7C>G) c.2437-7C>G (n.2437-7C>G) c.2617-7C>G (n.2617-7C>G) | gnomAD v4 |
| 20 | g.51784691G= | CA2369155398 | SALL4 | c.2743-7C= (n.2743-7C=) c.412-7C= (n.412-7C=) c.1432-7C= (n.1432-7C=) c.2437-7C= (n.2437-7C=) c.2617-7C= (n.2617-7C=) | |
| 20 | g.51784692A>T | CA2653358755 | SALL4 | c.2743-8T>A (n.2743-8T>A) c.412-8T>A (n.412-8T>A) c.1432-8T>A (n.1432-8T>A) c.2437-8T>A (n.2437-8T>A) c.2617-8T>A (n.2617-8T>A) | gnomAD v4 |
| 20 | g.51784695A>G | CA2653358756 | SALL4 | c.2743-11T>C (n.2743-11T>C) c.412-11T>C (n.412-11T>C) c.1432-11T>C (n.1432-11T>C) c.2437-11T>C (n.2437-11T>C) c.2617-11T>C (n.2617-11T>C) | gnomAD v4 |
| 20 | g.51784696G>A | CA315366545 | SALL4 | c.2743-12C>T (n.2743-12C>T) c.412-12C>T (n.412-12C>T) c.1432-12C>T (n.1432-12C>T) c.2437-12C>T (n.2437-12C>T) c.2617-12C>T (n.2617-12C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784696G= | CA2369155399 | SALL4 | c.2743-12C= (n.2743-12C=) c.412-12C= (n.412-12C=) c.1432-12C= (n.1432-12C=) c.2437-12C= (n.2437-12C=) c.2617-12C= (n.2617-12C=) | |
| 20 | g.51784697G>A | CA745390449 | SALL4 | c.2743-13C>T (n.2743-13C>T) c.412-13C>T (n.412-13C>T) c.1432-13C>T (n.1432-13C>T) c.2437-13C>T (n.2437-13C>T) c.2617-13C>T (n.2617-13C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784697G>C | CA2577428511 | SALL4 | c.2743-13C>G (n.2743-13C>G) c.412-13C>G (n.412-13C>G) c.1432-13C>G (n.1432-13C>G) c.2437-13C>G (n.2437-13C>G) c.2617-13C>G (n.2617-13C>G) | gnomAD v4 |
| 20 | g.51784697G= | CA2369155400 | SALL4 | c.2743-13C= (n.2743-13C=) c.412-13C= (n.412-13C=) c.1432-13C= (n.1432-13C=) c.2437-13C= (n.2437-13C=) c.2617-13C= (n.2617-13C=) | |
| 20 | g.51784697G>T | CA2653358757 | SALL4 | c.2743-13C>A (n.2743-13C>A) c.412-13C>A (n.412-13C>A) c.1432-13C>A (n.1432-13C>A) c.2437-13C>A (n.2437-13C>A) c.2617-13C>A (n.2617-13C>A) | gnomAD v4 |
| 20 | g.51784701G>T | CA2577428512 | SALL4 | c.2743-17C>A (n.2743-17C>A) c.412-17C>A (n.412-17C>A) c.1432-17C>A (n.1432-17C>A) c.2437-17C>A (n.2437-17C>A) c.2617-17C>A (n.2617-17C>A) | |
| 20 | g.51784702A= | CA2369155401 | SALL4 | c.2743-18T= (n.2743-18T=) c.412-18T= (n.412-18T=) c.1432-18T= (n.1432-18T=) c.2437-18T= (n.2437-18T=) c.2617-18T= (n.2617-18T=) | |
| 20 | g.51784702A>G | CA745390452 | SALL4 | c.2743-18T>C (n.2743-18T>C) c.412-18T>C (n.412-18T>C) c.1432-18T>C (n.1432-18T>C) c.2437-18T>C (n.2437-18T>C) c.2617-18T>C (n.2617-18T>C) | dbSNP |
| 20 | g.51784703A>C | CA2653358758 | SALL4 | c.2743-19T>G (n.2743-19T>G) c.412-19T>G (n.412-19T>G) c.1432-19T>G (n.1432-19T>G) c.2437-19T>G (n.2437-19T>G) c.2617-19T>G (n.2617-19T>G) | gnomAD v4 |
| 20 | g.51784703A>G | CA2653358759 | SALL4 | c.2743-19T>C (n.2743-19T>C) c.412-19T>C (n.412-19T>C) c.1432-19T>C (n.1432-19T>C) c.2437-19T>C (n.2437-19T>C) c.2617-19T>C (n.2617-19T>C) | gnomAD v4 |
| 20 | g.51784704A= | CA2369155402 | SALL4 | c.2743-20T= (n.2743-20T=) c.412-20T= (n.412-20T=) c.1432-20T= (n.1432-20T=) c.2437-20T= (n.2437-20T=) c.2617-20T= (n.2617-20T=) | |
| 20 | g.51784704A>C | CA2369155403 | SALL4 | c.2743-20T>G (n.2743-20T>G) c.412-20T>G (n.412-20T>G) c.1432-20T>G (n.1432-20T>G) c.2437-20T>G (n.2437-20T>G) c.2617-20T>G (n.2617-20T>G) | dbSNP gnomAD v4 |