| 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.51784496A= | CA2369155304 | SALL4 | c.2931T= (p.Asn977=) c.600T= (p.Asn200=) c.1620T= (p.Asn540=) c.2625T= (p.Asn875=) c.2805T= (p.Asn935=) | |
| 20 | g.51784496A>C | CA409006017 | SALL4 | c.2931T>G (p.Asn977Lys) c.600T>G (p.Asn200Lys) c.1620T>G (p.Asn540Lys) c.2625T>G (p.Asn875Lys) c.2805T>G (p.Asn935Lys) | |
| 20 | g.51784496A>G | CA511025659 | SALL4 | c.2931T>C (p.Asn977=) c.600T>C (p.Asn200=) c.1620T>C (p.Asn540=) c.2625T>C (p.Asn875=) c.2805T>C (p.Asn935=) | dbSNP |
| 20 | g.51784496A>T | CA409006018 | SALL4 | c.2931T>A (p.Asn977Lys) c.600T>A (p.Asn200Lys) c.1620T>A (p.Asn540Lys) c.2625T>A (p.Asn875Lys) c.2805T>A (p.Asn935Lys) | |
| 20 | g.51784497T>A | CA409006019 | SALL4 | c.2930A>T (p.Asn977Ile) c.599A>T (p.Asn200Ile) c.1619A>T (p.Asn540Ile) c.2624A>T (p.Asn875Ile) c.2804A>T (p.Asn935Ile) | gnomAD v4 |
| 20 | g.51784497T>C | CA9911969 | SALL4 | c.2930A>G (p.Asn977Ser) c.599A>G (p.Asn200Ser) c.1619A>G (p.Asn540Ser) c.2624A>G (p.Asn875Ser) c.2804A>G (p.Asn935Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784497T>G | CA409006020 | SALL4 | c.2930A>C (p.Asn977Thr) c.599A>C (p.Asn200Thr) c.1619A>C (p.Asn540Thr) c.2624A>C (p.Asn875Thr) c.2804A>C (p.Asn935Thr) | |
| 20 | g.51784497T= | CA2369155305 | SALL4 | c.2930A= (p.Asn977=) c.599A= (p.Asn200=) c.1619A= (p.Asn540=) c.2624A= (p.Asn875=) c.2804A= (p.Asn935=) | |
| 20 | g.51784498T>A | CA409006021 | SALL4 | c.2929A>T (p.Asn977Tyr) c.598A>T (p.Asn200Tyr) c.1618A>T (p.Asn540Tyr) c.2623A>T (p.Asn875Tyr) c.2803A>T (p.Asn935Tyr) | |
| 20 | g.51784498T>C | CA409006022 | SALL4 | c.2929A>G (p.Asn977Asp) c.598A>G (p.Asn200Asp) c.1618A>G (p.Asn540Asp) c.2623A>G (p.Asn875Asp) c.2803A>G (p.Asn935Asp) | gnomAD v4 |
| 20 | g.51784498T>G | CA409006023 | SALL4 | c.2929A>C (p.Asn977His) c.598A>C (p.Asn200His) c.1618A>C (p.Asn540His) c.2623A>C (p.Asn875His) c.2803A>C (p.Asn935His) | gnomAD v4 |
| 20 | g.51784499G>A | CA511025665 | SALL4 | c.2928C>T (p.Leu976=) c.597C>T (p.Leu199=) c.1617C>T (p.Leu539=) c.2622C>T (p.Leu874=) c.2802C>T (p.Leu934=) | |
| 20 | g.51784499G>C | CA511025664 | SALL4 | c.2928C>G (p.Leu976=) c.597C>G (p.Leu199=) c.1617C>G (p.Leu539=) c.2622C>G (p.Leu874=) c.2802C>G (p.Leu934=) | |
| 20 | g.51784499G>T | CA511025662 | SALL4 | c.2928C>A (p.Leu976=) c.597C>A (p.Leu199=) c.1617C>A (p.Leu539=) c.2622C>A (p.Leu874=) c.2802C>A (p.Leu934=) | |
| 20 | g.51784500A>C | CA409006024 | SALL4 | c.2927T>G (p.Leu976Arg) c.596T>G (p.Leu199Arg) c.1616T>G (p.Leu539Arg) c.2621T>G (p.Leu874Arg) c.2801T>G (p.Leu934Arg) | |
| 20 | g.51784500A>G | CA409006025 | SALL4 | c.2927T>C (p.Leu976Pro) c.596T>C (p.Leu199Pro) c.1616T>C (p.Leu539Pro) c.2621T>C (p.Leu874Pro) c.2801T>C (p.Leu934Pro) | |
| 20 | g.51784500A>T | CA409006026 | SALL4 | c.2927T>A (p.Leu976His) c.596T>A (p.Leu199His) c.1616T>A (p.Leu539His) c.2621T>A (p.Leu874His) c.2801T>A (p.Leu934His) | |
| 20 | g.51784501G>A | CA409006027 | SALL4 | c.2926C>T (p.Leu976Phe) c.595C>T (p.Leu199Phe) c.1615C>T (p.Leu539Phe) c.2620C>T (p.Leu874Phe) c.2800C>T (p.Leu934Phe) | |
| 20 | g.51784501G>C | CA409006028 | SALL4 | c.2926C>G (p.Leu976Val) c.595C>G (p.Leu199Val) c.1615C>G (p.Leu539Val) c.2620C>G (p.Leu874Val) c.2800C>G (p.Leu934Val) | |
| 20 | g.51784501G>T | CA409006029 | SALL4 | c.2926C>A (p.Leu976Ile) c.595C>A (p.Leu199Ile) c.1615C>A (p.Leu539Ile) c.2620C>A (p.Leu874Ile) c.2800C>A (p.Leu934Ile) | |
| 20 | g.51784502C>A | CA409006030 | SALL4 | c.2925G>T (p.Met975Ile) c.594G>T (p.Met198Ile) c.1614G>T (p.Met538Ile) c.2619G>T (p.Met873Ile) c.2799G>T (p.Met933Ile) | |
| 20 | g.51784502C>G | CA409006031 | SALL4 | c.2925G>C (p.Met975Ile) c.594G>C (p.Met198Ile) c.1614G>C (p.Met538Ile) c.2619G>C (p.Met873Ile) c.2799G>C (p.Met933Ile) | |
| 20 | g.51784502C>T | CA409006032 | SALL4 | c.2925G>A (p.Met975Ile) c.594G>A (p.Met198Ile) c.1614G>A (p.Met538Ile) c.2619G>A (p.Met873Ile) c.2799G>A (p.Met933Ile) | |
| 20 | g.51784503A>C | CA409006035 | SALL4 | c.2924T>G (p.Met975Arg) c.593T>G (p.Met198Arg) c.1613T>G (p.Met538Arg) c.2618T>G (p.Met873Arg) c.2798T>G (p.Met933Arg) | |
| 20 | g.51784503A>G | CA409006033 | SALL4 | c.2924T>C (p.Met975Thr) c.593T>C (p.Met198Thr) c.1613T>C (p.Met538Thr) c.2618T>C (p.Met873Thr) c.2798T>C (p.Met933Thr) | gnomAD v4 |
| 20 | g.51784503A>T | CA409006034 | SALL4 | c.2924T>A (p.Met975Lys) c.593T>A (p.Met198Lys) c.1613T>A (p.Met538Lys) c.2618T>A (p.Met873Lys) c.2798T>A (p.Met933Lys) | |
| 20 | g.51784504T>A | CA409006036 | SALL4 | c.2923A>T (p.Met975Leu) c.592A>T (p.Met198Leu) c.1612A>T (p.Met538Leu) c.2617A>T (p.Met873Leu) c.2797A>T (p.Met933Leu) | |
| 20 | g.51784504T>C | CA409006037 | SALL4 | c.2923A>G (p.Met975Val) c.592A>G (p.Met198Val) c.1612A>G (p.Met538Val) c.2617A>G (p.Met873Val) c.2797A>G (p.Met933Val) | |
| 20 | g.51784504T>G | CA409006038 | SALL4 | c.2923A>C (p.Met975Leu) c.592A>C (p.Met198Leu) c.1612A>C (p.Met538Leu) c.2617A>C (p.Met873Leu) c.2797A>C (p.Met933Leu) | |
| 20 | g.51784505G>A | CA511025670 | SALL4 | c.2922C>T (p.Ser974=) c.591C>T (p.Ser197=) c.1611C>T (p.Ser537=) c.2616C>T (p.Ser872=) c.2796C>T (p.Ser932=) | gnomAD v4 |
| 20 | g.51784505G>C | CA409006039 | SALL4 | c.2922C>G (p.Ser974Arg) c.591C>G (p.Ser197Arg) c.1611C>G (p.Ser537Arg) c.2616C>G (p.Ser872Arg) c.2796C>G (p.Ser932Arg) | |
| 20 | g.51784505G>T | CA409006040 | SALL4 | c.2922C>A (p.Ser974Arg) c.591C>A (p.Ser197Arg) c.1611C>A (p.Ser537Arg) c.2616C>A (p.Ser872Arg) c.2796C>A (p.Ser932Arg) | |
| 20 | g.51784506C>A | CA409006041 | SALL4 | c.2921G>T (p.Ser974Ile) c.590G>T (p.Ser197Ile) c.1610G>T (p.Ser537Ile) c.2615G>T (p.Ser872Ile) c.2795G>T (p.Ser932Ile) | |
| 20 | g.51784506C= | CA2369155306 | SALL4 | c.2921G= (p.Ser974=) c.590G= (p.Ser197=) c.1610G= (p.Ser537=) c.2615G= (p.Ser872=) c.2795G= (p.Ser932=) | |
| 20 | g.51784506C>G | CA409006042 | SALL4 | c.2921G>C (p.Ser974Thr) c.590G>C (p.Ser197Thr) c.1610G>C (p.Ser537Thr) c.2615G>C (p.Ser872Thr) c.2795G>C (p.Ser932Thr) | dbSNP |
| 20 | g.51784506C>T | CA9911970 | SALL4 | c.2921G>A (p.Ser974Asn) c.590G>A (p.Ser197Asn) c.1610G>A (p.Ser537Asn) c.2615G>A (p.Ser872Asn) c.2795G>A (p.Ser932Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784507T>A | CA409006043 | SALL4 | c.2920A>T (p.Ser974Cys) c.589A>T (p.Ser197Cys) c.1609A>T (p.Ser537Cys) c.2614A>T (p.Ser872Cys) c.2794A>T (p.Ser932Cys) | gnomAD v4 |
| 20 | g.51784507T>C | CA409006044 | SALL4 | c.2920A>G (p.Ser974Gly) c.589A>G (p.Ser197Gly) c.1609A>G (p.Ser537Gly) c.2614A>G (p.Ser872Gly) c.2794A>G (p.Ser932Gly) | |
| 20 | g.51784507T>G | CA409006045 | SALL4 | c.2920A>C (p.Ser974Arg) c.589A>C (p.Ser197Arg) c.1609A>C (p.Ser537Arg) c.2614A>C (p.Ser872Arg) c.2794A>C (p.Ser932Arg) | |
| 20 | g.51784508G>A | CA315366072 | SALL4 | c.2919C>T (p.Thr973=) c.588C>T (p.Thr196=) c.1608C>T (p.Thr536=) c.2613C>T (p.Thr871=) c.2793C>T (p.Thr931=) | dbSNP gnomAD v4 |
| 20 | g.51784508G>C | CA511025672 | SALL4 | c.2919C>G (p.Thr973=) c.588C>G (p.Thr196=) c.1608C>G (p.Thr536=) c.2613C>G (p.Thr871=) c.2793C>G (p.Thr931=) | |
| 20 | g.51784508G= | CA2369155307 | SALL4 | c.2919C= (p.Thr973=) c.588C= (p.Thr196=) c.1608C= (p.Thr536=) c.2613C= (p.Thr871=) c.2793C= (p.Thr931=) | |
| 20 | g.51784508G>T | CA511025673 | SALL4 | c.2919C>A (p.Thr973=) c.588C>A (p.Thr196=) c.1608C>A (p.Thr536=) c.2613C>A (p.Thr871=) c.2793C>A (p.Thr931=) | |
| 20 | g.51784509G>A | CA409006048 | SALL4 | c.2918C>T (p.Thr973Ile) c.587C>T (p.Thr196Ile) c.1607C>T (p.Thr536Ile) c.2612C>T (p.Thr871Ile) c.2792C>T (p.Thr931Ile) | COSMIC |
| 20 | g.51784509G>C | CA409006047 | SALL4 | c.2918C>G (p.Thr973Ser) c.587C>G (p.Thr196Ser) c.1607C>G (p.Thr536Ser) c.2612C>G (p.Thr871Ser) c.2792C>G (p.Thr931Ser) | |
| 20 | g.51784509G>T | CA409006046 | SALL4 | c.2918C>A (p.Thr973Asn) c.587C>A (p.Thr196Asn) c.1607C>A (p.Thr536Asn) c.2612C>A (p.Thr871Asn) c.2792C>A (p.Thr931Asn) | |
| 20 | g.51784510T>A | CA409006051 | SALL4 | c.2917A>T (p.Thr973Ser) c.586A>T (p.Thr196Ser) c.1606A>T (p.Thr536Ser) c.2611A>T (p.Thr871Ser) c.2791A>T (p.Thr931Ser) | |
| 20 | g.51784510T>C | CA409006049 | SALL4 | c.2917A>G (p.Thr973Ala) c.586A>G (p.Thr196Ala) c.1606A>G (p.Thr536Ala) c.2611A>G (p.Thr871Ala) c.2791A>G (p.Thr931Ala) | |
| 20 | g.51784510T>G | CA409006050 | SALL4 | c.2917A>C (p.Thr973Pro) c.586A>C (p.Thr196Pro) c.1606A>C (p.Thr536Pro) c.2611A>C (p.Thr871Pro) c.2791A>C (p.Thr931Pro) | |
| 20 | g.51784511G>A | CA9911971 | SALL4 | c.2916C>T (p.Tyr972=) c.585C>T (p.Tyr195=) c.1605C>T (p.Tyr535=) c.2610C>T (p.Tyr870=) c.2790C>T (p.Tyr930=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784511G>C | CA409006052 | SALL4 | c.2916C>G (p.Tyr972Ter) c.585C>G (p.Tyr195Ter) c.1605C>G (p.Tyr535Ter) c.2610C>G (p.Tyr870Ter) c.2790C>G (p.Tyr930Ter) | gnomAD v4 |
| 20 | g.51784511G= | CA2369155308 | SALL4 | c.2916C= (p.Tyr972=) c.585C= (p.Tyr195=) c.1605C= (p.Tyr535=) c.2610C= (p.Tyr870=) c.2790C= (p.Tyr930=) | |
| 20 | g.51784511G>T | CA409006053 | SALL4 | c.2916C>A (p.Tyr972Ter) c.585C>A (p.Tyr195Ter) c.1605C>A (p.Tyr535Ter) c.2610C>A (p.Tyr870Ter) c.2790C>A (p.Tyr930Ter) | |
| 20 | g.51784512T>A | CA409006056 | SALL4 | c.2915A>T (p.Tyr972Phe) c.584A>T (p.Tyr195Phe) c.1604A>T (p.Tyr535Phe) c.2609A>T (p.Tyr870Phe) c.2789A>T (p.Tyr930Phe) | |
| 20 | g.51784512T>C | CA409006055 | SALL4 | c.2915A>G (p.Tyr972Cys) c.584A>G (p.Tyr195Cys) c.1604A>G (p.Tyr535Cys) c.2609A>G (p.Tyr870Cys) c.2789A>G (p.Tyr930Cys) | gnomAD v4 |
| 20 | g.51784512T>G | CA409006054 | SALL4 | c.2915A>C (p.Tyr972Ser) c.584A>C (p.Tyr195Ser) c.1604A>C (p.Tyr535Ser) c.2609A>C (p.Tyr870Ser) c.2789A>C (p.Tyr930Ser) | |
| 20 | g.51784513A>C | CA409006057 | SALL4 | c.2914T>G (p.Tyr972Asp) c.583T>G (p.Tyr195Asp) c.1603T>G (p.Tyr535Asp) c.2608T>G (p.Tyr870Asp) c.2788T>G (p.Tyr930Asp) | |
| 20 | g.51784513A>G | CA409006058 | SALL4 | c.2914T>C (p.Tyr972His) c.583T>C (p.Tyr195His) c.1603T>C (p.Tyr535His) c.2608T>C (p.Tyr870His) c.2788T>C (p.Tyr930His) | |
| 20 | g.51784513A>T | CA409006059 | SALL4 | c.2914T>A (p.Tyr972Asn) c.583T>A (p.Tyr195Asn) c.1603T>A (p.Tyr535Asn) c.2608T>A (p.Tyr870Asn) c.2788T>A (p.Tyr930Asn) | |
| 20 | g.51784514C>A | CA409006060 | SALL4 | c.2913G>T (p.Gln971His) c.582G>T (p.Gln194His) c.1602G>T (p.Gln534His) c.2607G>T (p.Gln869His) c.2787G>T (p.Gln929His) | |
| 20 | g.51784514C= | CA2369155309 | SALL4 | c.2913G= (p.Gln971=) c.582G= (p.Gln194=) c.1602G= (p.Gln534=) c.2607G= (p.Gln869=) c.2787G= (p.Gln929=) | |
| 20 | g.51784514C>G | CA409006061 | SALL4 | c.2913G>C (p.Gln971His) c.582G>C (p.Gln194His) c.1602G>C (p.Gln534His) c.2607G>C (p.Gln869His) c.2787G>C (p.Gln929His) | |
| 20 | g.51784514C>T | CA9911972 | SALL4 | c.2913G>A (p.Gln971=) c.582G>A (p.Gln194=) c.1602G>A (p.Gln534=) c.2607G>A (p.Gln869=) c.2787G>A (p.Gln929=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784515T>A | CA409006062 | SALL4 | c.2912A>T (p.Gln971Leu) c.581A>T (p.Gln194Leu) c.1601A>T (p.Gln534Leu) c.2606A>T (p.Gln869Leu) c.2786A>T (p.Gln929Leu) | |
| 20 | g.51784515T>C | CA409006064 | SALL4 | c.2912A>G (p.Gln971Arg) c.581A>G (p.Gln194Arg) c.1601A>G (p.Gln534Arg) c.2606A>G (p.Gln869Arg) c.2786A>G (p.Gln929Arg) | gnomAD v4 |
| 20 | g.51784515T>G | CA409006063 | SALL4 | c.2912A>C (p.Gln971Pro) c.581A>C (p.Gln194Pro) c.1601A>C (p.Gln534Pro) c.2606A>C (p.Gln869Pro) c.2786A>C (p.Gln929Pro) | |
| 20 | g.51784516G>A | CA409006065 | SALL4 | c.2911C>T (p.Gln971Ter) c.580C>T (p.Gln194Ter) c.1600C>T (p.Gln534Ter) c.2605C>T (p.Gln869Ter) c.2785C>T (p.Gln929Ter) | |
| 20 | g.51784516G>C | CA409006067 | SALL4 | c.2911C>G (p.Gln971Glu) c.580C>G (p.Gln194Glu) c.1600C>G (p.Gln534Glu) c.2605C>G (p.Gln869Glu) c.2785C>G (p.Gln929Glu) | |
| 20 | g.51784516G>T | CA409006068 | SALL4 | c.2911C>A (p.Gln971Lys) c.580C>A (p.Gln194Lys) c.1600C>A (p.Gln534Lys) c.2605C>A (p.Gln869Lys) c.2785C>A (p.Gln929Lys) | |
| 20 | g.51784517G>A | CA511025685 | SALL4 | c.2910C>T (p.Asn970=) c.579C>T (p.Asn193=) c.1599C>T (p.Asn533=) c.2604C>T (p.Asn868=) c.2784C>T (p.Asn928=) | dbSNP |
| 20 | g.51784517G>C | CA409006069 | SALL4 | c.2910C>G (p.Asn970Lys) c.579C>G (p.Asn193Lys) c.1599C>G (p.Asn533Lys) c.2604C>G (p.Asn868Lys) c.2784C>G (p.Asn928Lys) | |
| 20 | g.51784517G= | CA2369155310 | SALL4 | c.2910C= (p.Asn970=) c.579C= (p.Asn193=) c.1599C= (p.Asn533=) c.2604C= (p.Asn868=) c.2784C= (p.Asn928=) | |
| 20 | g.51784517G>T | CA409006070 | SALL4 | c.2910C>A (p.Asn970Lys) c.579C>A (p.Asn193Lys) c.1599C>A (p.Asn533Lys) c.2604C>A (p.Asn868Lys) c.2784C>A (p.Asn928Lys) | |
| 20 | g.51784518T>A | CA409006071 | SALL4 | c.2909A>T (p.Asn970Ile) c.578A>T (p.Asn193Ile) c.1598A>T (p.Asn533Ile) c.2603A>T (p.Asn868Ile) c.2783A>T (p.Asn928Ile) | |
| 20 | g.51784518T>C | CA409006072 | SALL4 | c.2909A>G (p.Asn970Ser) c.578A>G (p.Asn193Ser) c.1598A>G (p.Asn533Ser) c.2603A>G (p.Asn868Ser) c.2783A>G (p.Asn928Ser) | |
| 20 | g.51784518T>G | CA409006073 | SALL4 | c.2909A>C (p.Asn970Thr) c.578A>C (p.Asn193Thr) c.1598A>C (p.Asn533Thr) c.2603A>C (p.Asn868Thr) c.2783A>C (p.Asn928Thr) | |
| 20 | g.51784519T>A | CA409006074 | SALL4 | c.2908A>T (p.Asn970Tyr) c.577A>T (p.Asn193Tyr) c.1597A>T (p.Asn533Tyr) c.2602A>T (p.Asn868Tyr) c.2782A>T (p.Asn928Tyr) | |
| 20 | g.51784519T>C | CA409006075 | SALL4 | c.2908A>G (p.Asn970Asp) c.577A>G (p.Asn193Asp) c.1597A>G (p.Asn533Asp) c.2602A>G (p.Asn868Asp) c.2782A>G (p.Asn928Asp) | |
| 20 | g.51784519T>G | CA409006076 | SALL4 | c.2908A>C (p.Asn970His) c.577A>C (p.Asn193His) c.1597A>C (p.Asn533His) c.2602A>C (p.Asn868His) c.2782A>C (p.Asn928His) | dbSNP |
| 20 | g.51784519T= | CA2369155311 | SALL4 | c.2908A= (p.Asn970=) c.577A= (p.Asn193=) c.1597A= (p.Asn533=) c.2602A= (p.Asn868=) c.2782A= (p.Asn928=) | |
| 20 | g.51784520C>A | CA409006079 | SALL4 | c.2907G>T (p.Trp969Cys) c.576G>T (p.Trp192Cys) c.1596G>T (p.Trp532Cys) c.2601G>T (p.Trp867Cys) c.2781G>T (p.Trp927Cys) | COSMIC |
| 20 | g.51784520C>G | CA409006078 | SALL4 | c.2907G>C (p.Trp969Cys) c.576G>C (p.Trp192Cys) c.1596G>C (p.Trp532Cys) c.2601G>C (p.Trp867Cys) c.2781G>C (p.Trp927Cys) | |
| 20 | g.51784520C>T | CA409006077 | SALL4 | c.2907G>A (p.Trp969Ter) c.576G>A (p.Trp192Ter) c.1596G>A (p.Trp532Ter) c.2601G>A (p.Trp867Ter) c.2781G>A (p.Trp927Ter) | |
| 20 | g.51784521C>A | CA409006080 | SALL4 | c.2906G>T (p.Trp969Leu) c.575G>T (p.Trp192Leu) c.1595G>T (p.Trp532Leu) c.2600G>T (p.Trp867Leu) c.2780G>T (p.Trp927Leu) | |
| 20 | g.51784521C>G | CA409006082 | SALL4 | c.2906G>C (p.Trp969Ser) c.575G>C (p.Trp192Ser) c.1595G>C (p.Trp532Ser) c.2600G>C (p.Trp867Ser) c.2780G>C (p.Trp927Ser) | |
| 20 | g.51784521C>T | CA409006081 | SALL4 | c.2906G>A (p.Trp969Ter) c.575G>A (p.Trp192Ter) c.1595G>A (p.Trp532Ter) c.2600G>A (p.Trp867Ter) c.2780G>A (p.Trp927Ter) | |
| 20 | g.51784522A>C | CA409006083 | SALL4 | c.2905T>G (p.Trp969Gly) c.574T>G (p.Trp192Gly) c.1594T>G (p.Trp532Gly) c.2599T>G (p.Trp867Gly) c.2779T>G (p.Trp927Gly) | |
| 20 | g.51784522A>G | CA409006084 | SALL4 | c.2905T>C (p.Trp969Arg) c.574T>C (p.Trp192Arg) c.1594T>C (p.Trp532Arg) c.2599T>C (p.Trp867Arg) c.2779T>C (p.Trp927Arg) | |
| 20 | g.51784522A>T | CA409006085 | SALL4 | c.2905T>A (p.Trp969Arg) c.574T>A (p.Trp192Arg) c.1594T>A (p.Trp532Arg) c.2599T>A (p.Trp867Arg) c.2779T>A (p.Trp927Arg) | |
| 20 | g.51784523C>A | CA511025694 | SALL4 | c.2904G>T (p.Val968=) c.573G>T (p.Val191=) c.1593G>T (p.Val531=) c.2598G>T (p.Val866=) c.2778G>T (p.Val926=) | |
| 20 | g.51784523C= | CA2369155312 | SALL4 | c.2904G= (p.Val968=) c.573G= (p.Val191=) c.1593G= (p.Val531=) c.2598G= (p.Val866=) c.2778G= (p.Val926=) | |
| 20 | g.51784523C>G | CA9911973 | SALL4 | c.2904G>C (p.Val968=) c.573G>C (p.Val191=) c.1593G>C (p.Val531=) c.2598G>C (p.Val866=) c.2778G>C (p.Val926=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784523C>T | CA511025695 | SALL4 | c.2904G>A (p.Val968=) c.573G>A (p.Val191=) c.1593G>A (p.Val531=) c.2598G>A (p.Val866=) c.2778G>A (p.Val926=) | gnomAD v4 |
| 20 | g.51784524A= | CA2369155313 | SALL4 | c.2903T= (p.Val968=) c.572T= (p.Val191=) c.1592T= (p.Val531=) c.2597T= (p.Val866=) c.2777T= (p.Val926=) | |
| 20 | g.51784524A>C | CA9911974 | SALL4 | c.2903T>G (p.Val968Gly) c.572T>G (p.Val191Gly) c.1592T>G (p.Val531Gly) c.2597T>G (p.Val866Gly) c.2777T>G (p.Val926Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784524A>G | CA409006086 | SALL4 | c.2903T>C (p.Val968Ala) c.572T>C (p.Val191Ala) c.1592T>C (p.Val531Ala) c.2597T>C (p.Val866Ala) c.2777T>C (p.Val926Ala) | dbSNP |
| 20 | g.51784524A>T | CA409006087 | SALL4 | c.2903T>A (p.Val968Glu) c.572T>A (p.Val191Glu) c.1592T>A (p.Val531Glu) c.2597T>A (p.Val866Glu) c.2777T>A (p.Val926Glu) | |
| 20 | g.51784525C>A | CA9911975 | SALL4 | c.2902G>T (p.Val968Leu) c.571G>T (p.Val191Leu) c.1591G>T (p.Val531Leu) c.2596G>T (p.Val866Leu) c.2776G>T (p.Val926Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784525C= | CA2369155314 | SALL4 | c.2902G= (p.Val968=) c.571G= (p.Val191=) c.1591G= (p.Val531=) c.2596G= (p.Val866=) c.2776G= (p.Val926=) | |
| 20 | g.51784525C>G | CA409006088 | SALL4 | c.2902G>C (p.Val968Leu) c.571G>C (p.Val191Leu) c.1591G>C (p.Val531Leu) c.2596G>C (p.Val866Leu) c.2776G>C (p.Val926Leu) | |
| 20 | g.51784525C>T | CA409006089 | SALL4 | c.2902G>A (p.Val968Met) c.571G>A (p.Val191Met) c.1591G>A (p.Val531Met) c.2596G>A (p.Val866Met) c.2776G>A (p.Val926Met) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784526A= | CA2369155315 | SALL4 | c.2901T= (p.Val967=) c.570T= (p.Val190=) c.1590T= (p.Val530=) c.2595T= (p.Val865=) c.2775T= (p.Val925=) | |
| 20 | g.51784526A>C | CA511025700 | SALL4 | c.2901T>G (p.Val967=) c.570T>G (p.Val190=) c.1590T>G (p.Val530=) c.2595T>G (p.Val865=) c.2775T>G (p.Val925=) | |
| 20 | g.51784526A>G | CA9911976 | SALL4 | c.2901T>C (p.Val967=) c.570T>C (p.Val190=) c.1590T>C (p.Val530=) c.2595T>C (p.Val865=) c.2775T>C (p.Val925=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784526A>T | CA511025701 | SALL4 | c.2901T>A (p.Val967=) c.570T>A (p.Val190=) c.1590T>A (p.Val530=) c.2595T>A (p.Val865=) c.2775T>A (p.Val925=) | |
| 20 | g.51784527A= | CA2369155316 | SALL4 | c.2900T= (p.Val967=) c.569T= (p.Val190=) c.1589T= (p.Val530=) c.2594T= (p.Val865=) c.2774T= (p.Val925=) | |
| 20 | g.51784527A>C | CA409006091 | SALL4 | c.2900T>G (p.Val967Gly) c.569T>G (p.Val190Gly) c.1589T>G (p.Val530Gly) c.2594T>G (p.Val865Gly) c.2774T>G (p.Val925Gly) | |
| 20 | g.51784527A>G | CA9911977 | SALL4 | c.2900T>C (p.Val967Ala) c.569T>C (p.Val190Ala) c.1589T>C (p.Val530Ala) c.2594T>C (p.Val865Ala) c.2774T>C (p.Val925Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784527A>T | CA409006090 | SALL4 | c.2900T>A (p.Val967Asp) c.569T>A (p.Val190Asp) c.1589T>A (p.Val530Asp) c.2594T>A (p.Val865Asp) c.2774T>A (p.Val925Asp) | |
| 20 | g.51784528C>A | CA409006092 | SALL4 | c.2899G>T (p.Val967Phe) c.568G>T (p.Val190Phe) c.1588G>T (p.Val530Phe) c.2593G>T (p.Val865Phe) c.2773G>T (p.Val925Phe) | |
| 20 | g.51784528C= | CA2369155317 | SALL4 | c.2899G= (p.Val967=) c.568G= (p.Val190=) c.1588G= (p.Val530=) c.2593G= (p.Val865=) c.2773G= (p.Val925=) | |
| 20 | g.51784528C>G | CA409006093 | SALL4 | c.2899G>C (p.Val967Leu) c.568G>C (p.Val190Leu) c.1588G>C (p.Val530Leu) c.2593G>C (p.Val865Leu) c.2773G>C (p.Val925Leu) | |
| 20 | g.51784528C>T | CA9911978 | SALL4 | c.2899G>A (p.Val967Ile) c.568G>A (p.Val190Ile) c.1588G>A (p.Val530Ile) c.2593G>A (p.Val865Ile) c.2773G>A (p.Val925Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784529A>C | CA511025705 | SALL4 | c.2898T>G (p.Pro966=) c.567T>G (p.Pro189=) c.1587T>G (p.Pro529=) c.2592T>G (p.Pro864=) c.2772T>G (p.Pro924=) | gnomAD v4 |
| 20 | g.51784529A>G | CA511025706 | SALL4 | c.2898T>C (p.Pro966=) c.567T>C (p.Pro189=) c.1587T>C (p.Pro529=) c.2592T>C (p.Pro864=) c.2772T>C (p.Pro924=) | |
| 20 | g.51784529A>T | CA511025707 | SALL4 | c.2898T>A (p.Pro966=) c.567T>A (p.Pro189=) c.1587T>A (p.Pro529=) c.2592T>A (p.Pro864=) c.2772T>A (p.Pro924=) | |
| 20 | g.51784530G>A | CA409006094 | SALL4 | c.2897C>T (p.Pro966Leu) c.566C>T (p.Pro189Leu) c.1586C>T (p.Pro529Leu) c.2591C>T (p.Pro864Leu) c.2771C>T (p.Pro924Leu) | |
| 20 | g.51784530G>C | CA409006095 | SALL4 | c.2897C>G (p.Pro966Arg) c.566C>G (p.Pro189Arg) c.1586C>G (p.Pro529Arg) c.2591C>G (p.Pro864Arg) c.2771C>G (p.Pro924Arg) | gnomAD v4 |
| 20 | g.51784530G>T | CA409006096 | SALL4 | c.2897C>A (p.Pro966His) c.566C>A (p.Pro189His) c.1586C>A (p.Pro529His) c.2591C>A (p.Pro864His) c.2771C>A (p.Pro924His) | |
| 20 | g.51784532del | CA2653358751 | SALL4 | c.2897del (p.Pro966LeufsTer17) c.566del (p.Pro189LeufsTer17) c.1586del (p.Pro529LeufsTer17) c.2591del (p.Pro864LeufsTer17) c.2771del (p.Pro924LeufsTer17) | gnomAD v4 |
| 20 | g.51784531G>A | CA315366144 | SALL4 | c.2896C>T (p.Pro966Ser) c.565C>T (p.Pro189Ser) c.1585C>T (p.Pro529Ser) c.2590C>T (p.Pro864Ser) c.2770C>T (p.Pro924Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784531G>C | CA409006097 | SALL4 | c.2896C>G (p.Pro966Ala) c.565C>G (p.Pro189Ala) c.1585C>G (p.Pro529Ala) c.2590C>G (p.Pro864Ala) c.2770C>G (p.Pro924Ala) | |
| 20 | g.51784531G= | CA2369155318 | SALL4 | c.2896C= (p.Pro966=) c.565C= (p.Pro189=) c.1585C= (p.Pro529=) c.2590C= (p.Pro864=) c.2770C= (p.Pro924=) | |
| 20 | g.51784531G>T | CA409006098 | SALL4 | c.2896C>A (p.Pro966Thr) c.565C>A (p.Pro189Thr) c.1585C>A (p.Pro529Thr) c.2590C>A (p.Pro864Thr) c.2770C>A (p.Pro924Thr) | |
| 20 | g.51784532G>A | CA511025712 | SALL4 | c.2895C>T (p.Asp965=) c.564C>T (p.Asp188=) c.1584C>T (p.Asp528=) c.2589C>T (p.Asp863=) c.2769C>T (p.Asp923=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784532G>C | CA409006099 | SALL4 | c.2895C>G (p.Asp965Glu) c.564C>G (p.Asp188Glu) c.1584C>G (p.Asp528Glu) c.2589C>G (p.Asp863Glu) c.2769C>G (p.Asp923Glu) | dbSNP gnomAD v4 |
| 20 | g.51784532G= | CA2369155319 | SALL4 | c.2895C= (p.Asp965=) c.564C= (p.Asp188=) c.1584C= (p.Asp528=) c.2589C= (p.Asp863=) c.2769C= (p.Asp923=) | |
| 20 | g.51784532G>T | CA409006100 | SALL4 | c.2895C>A (p.Asp965Glu) c.564C>A (p.Asp188Glu) c.1584C>A (p.Asp528Glu) c.2589C>A (p.Asp863Glu) c.2769C>A (p.Asp923Glu) | |
| 20 | g.51784533T>A | CA409006103 | SALL4 | c.2894A>T (p.Asp965Val) c.563A>T (p.Asp188Val) c.1583A>T (p.Asp528Val) c.2588A>T (p.Asp863Val) c.2768A>T (p.Asp923Val) | |
| 20 | g.51784533T>C | CA409006102 | SALL4 | c.2894A>G (p.Asp965Gly) c.563A>G (p.Asp188Gly) c.1583A>G (p.Asp528Gly) c.2588A>G (p.Asp863Gly) c.2768A>G (p.Asp923Gly) | |
| 20 | g.51784533T>G | CA409006101 | SALL4 | c.2894A>C (p.Asp965Ala) c.563A>C (p.Asp188Ala) c.1583A>C (p.Asp528Ala) c.2588A>C (p.Asp863Ala) c.2768A>C (p.Asp923Ala) | |
| 20 | g.51784534C>A | CA409006105 | SALL4 | c.2893G>T (p.Asp965Tyr) c.562G>T (p.Asp188Tyr) c.1582G>T (p.Asp528Tyr) c.2587G>T (p.Asp863Tyr) c.2767G>T (p.Asp923Tyr) | gnomAD v4 |
| 20 | g.51784534C= | CA2369155320 | SALL4 | c.2893G= (p.Asp965=) c.562G= (p.Asp188=) c.1582G= (p.Asp528=) c.2587G= (p.Asp863=) c.2767G= (p.Asp923=) | |
| 20 | g.51784534C>G | CA409006104 | SALL4 | c.2893G>C (p.Asp965His) c.562G>C (p.Asp188His) c.1582G>C (p.Asp528His) c.2587G>C (p.Asp863His) c.2767G>C (p.Asp923His) | |
| 20 | g.51784534C>T | CA9911979 | SALL4 | c.2893G>A (p.Asp965Asn) c.562G>A (p.Asp188Asn) c.1582G>A (p.Asp528Asn) c.2587G>A (p.Asp863Asn) c.2767G>A (p.Asp923Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784535C>A | CA511025720 | SALL4 | c.2892G>T (p.Val964=) c.561G>T (p.Val187=) c.1581G>T (p.Val527=) c.2586G>T (p.Val862=) c.2766G>T (p.Val922=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784535C= | CA2369155321 | SALL4 | c.2892G= (p.Val964=) c.561G= (p.Val187=) c.1581G= (p.Val527=) c.2586G= (p.Val862=) c.2766G= (p.Val922=) | |
| 20 | g.51784535C>G | CA511025721 | SALL4 | c.2892G>C (p.Val964=) c.561G>C (p.Val187=) c.1581G>C (p.Val527=) c.2586G>C (p.Val862=) c.2766G>C (p.Val922=) | |
| 20 | g.51784535C>T | CA511025722 | SALL4 | c.2892G>A (p.Val964=) c.561G>A (p.Val187=) c.1581G>A (p.Val527=) c.2586G>A (p.Val862=) c.2766G>A (p.Val922=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784536A= | CA2369155322 | SALL4 | c.2891T= (p.Val964=) c.560T= (p.Val187=) c.1580T= (p.Val527=) c.2585T= (p.Val862=) c.2765T= (p.Val922=) | |
| 20 | g.51784536A>C | CA409006106 | SALL4 | c.2891T>G (p.Val964Gly) c.560T>G (p.Val187Gly) c.1580T>G (p.Val527Gly) c.2585T>G (p.Val862Gly) c.2765T>G (p.Val922Gly) | |
| 20 | g.51784536A>G | CA409006107 | SALL4 | c.2891T>C (p.Val964Ala) c.560T>C (p.Val187Ala) c.1580T>C (p.Val527Ala) c.2585T>C (p.Val862Ala) c.2765T>C (p.Val922Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784536A>T | CA409006108 | SALL4 | c.2891T>A (p.Val964Glu) c.560T>A (p.Val187Glu) c.1580T>A (p.Val527Glu) c.2585T>A (p.Val862Glu) c.2765T>A (p.Val922Glu) | |
| 20 | g.51784537C>A | CA409006109 | SALL4 | c.2890G>T (p.Val964Leu) c.559G>T (p.Val187Leu) c.1579G>T (p.Val527Leu) c.2584G>T (p.Val862Leu) c.2764G>T (p.Val922Leu) | gnomAD v4 |
| 20 | g.51784537C>G | CA409006110 | SALL4 | c.2890G>C (p.Val964Leu) c.559G>C (p.Val187Leu) c.1579G>C (p.Val527Leu) c.2584G>C (p.Val862Leu) c.2764G>C (p.Val922Leu) | |
| 20 | g.51784537C>T | CA409006111 | SALL4 | c.2890G>A (p.Val964Met) c.559G>A (p.Val187Met) c.1579G>A (p.Val527Met) c.2584G>A (p.Val862Met) c.2764G>A (p.Val922Met) | gnomAD v4 |
| 20 | g.51784538A>C | CA409006112 | SALL4 | c.2889T>G (p.Asn963Lys) c.558T>G (p.Asn186Lys) c.1578T>G (p.Asn526Lys) c.2583T>G (p.Asn861Lys) c.2763T>G (p.Asn921Lys) | |
| 20 | g.51784538A>G | CA511025727 | SALL4 | c.2889T>C (p.Asn963=) c.558T>C (p.Asn186=) c.1578T>C (p.Asn526=) c.2583T>C (p.Asn861=) c.2763T>C (p.Asn921=) | gnomAD v4 |
| 20 | g.51784538A>T | CA409006113 | SALL4 | c.2889T>A (p.Asn963Lys) c.558T>A (p.Asn186Lys) c.1578T>A (p.Asn526Lys) c.2583T>A (p.Asn861Lys) c.2763T>A (p.Asn921Lys) | |
| 20 | g.51784539T>A | CA409006114 | SALL4 | c.2888A>T (p.Asn963Ile) c.557A>T (p.Asn186Ile) c.1577A>T (p.Asn526Ile) c.2582A>T (p.Asn861Ile) c.2762A>T (p.Asn921Ile) | |
| 20 | g.51784539T>C | CA409006115 | SALL4 | c.2888A>G (p.Asn963Ser) c.557A>G (p.Asn186Ser) c.1577A>G (p.Asn526Ser) c.2582A>G (p.Asn861Ser) c.2762A>G (p.Asn921Ser) | |
| 20 | g.51784539T>G | CA409006116 | SALL4 | c.2888A>C (p.Asn963Thr) c.557A>C (p.Asn186Thr) c.1577A>C (p.Asn526Thr) c.2582A>C (p.Asn861Thr) c.2762A>C (p.Asn921Thr) | |
| 20 | g.51784539_51784545dup | CA2577428510 | SALL4 | c.2882_2888dup (p.Val964SerfsTer25) c.551_557dup (p.Val187SerfsTer25) c.1571_1577dup (p.Val527SerfsTer25) c.2576_2582dup (p.Val862SerfsTer25) c.2756_2762dup (p.Val922SerfsTer25) | |
| 20 | g.51784540T>A | CA409006119 | SALL4 | c.2887A>T (p.Asn963Tyr) c.556A>T (p.Asn186Tyr) c.1576A>T (p.Asn526Tyr) c.2581A>T (p.Asn861Tyr) c.2761A>T (p.Asn921Tyr) | |
| 20 | g.51784540T>C | CA409006117 | SALL4 | c.2887A>G (p.Asn963Asp) c.556A>G (p.Asn186Asp) c.1576A>G (p.Asn526Asp) c.2581A>G (p.Asn861Asp) c.2761A>G (p.Asn921Asp) | |
| 20 | g.51784540T>G | CA409006118 | SALL4 | c.2887A>C (p.Asn963His) c.556A>C (p.Asn186His) c.1576A>C (p.Asn526His) c.2581A>C (p.Asn861His) c.2761A>C (p.Asn921His) | |
| 20 | g.51784541C>A | CA511025728 | SALL4 | c.2886G>T (p.Val962=) c.555G>T (p.Val185=) c.1575G>T (p.Val525=) c.2580G>T (p.Val860=) c.2760G>T (p.Val920=) | |
| 20 | g.51784541C= | CA2369155323 | SALL4 | c.2886G= (p.Val962=) c.555G= (p.Val185=) c.1575G= (p.Val525=) c.2580G= (p.Val860=) c.2760G= (p.Val920=) | |
| 20 | g.51784541C>G | CA511025731 | SALL4 | c.2886G>C (p.Val962=) c.555G>C (p.Val185=) c.1575G>C (p.Val525=) c.2580G>C (p.Val860=) c.2760G>C (p.Val920=) | |
| 20 | g.51784541C>T | CA315366176 | SALL4 | c.2886G>A (p.Val962=) c.555G>A (p.Val185=) c.1575G>A (p.Val525=) c.2580G>A (p.Val860=) c.2760G>A (p.Val920=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784542A>C | CA409006120 | SALL4 | c.2885T>G (p.Val962Gly) c.554T>G (p.Val185Gly) c.1574T>G (p.Val525Gly) c.2579T>G (p.Val860Gly) c.2759T>G (p.Val920Gly) | |
| 20 | g.51784542A>G | CA409006121 | SALL4 | c.2885T>C (p.Val962Ala) c.554T>C (p.Val185Ala) c.1574T>C (p.Val525Ala) c.2579T>C (p.Val860Ala) c.2759T>C (p.Val920Ala) | |
| 20 | g.51784542A>T | CA409006122 | SALL4 | c.2885T>A (p.Val962Glu) c.554T>A (p.Val185Glu) c.1574T>A (p.Val525Glu) c.2579T>A (p.Val860Glu) c.2759T>A (p.Val920Glu) | |
| 20 | g.51784543C>A | CA409006123 | SALL4 | c.2884G>T (p.Val962Leu) c.553G>T (p.Val185Leu) c.1573G>T (p.Val525Leu) c.2578G>T (p.Val860Leu) c.2758G>T (p.Val920Leu) | |
| 20 | g.51784543C>G | CA409006124 | SALL4 | c.2884G>C (p.Val962Leu) c.553G>C (p.Val185Leu) c.1573G>C (p.Val525Leu) c.2578G>C (p.Val860Leu) c.2758G>C (p.Val920Leu) | |
| 20 | g.51784543C>T | CA409006125 | SALL4 | c.2884G>A (p.Val962Met) c.553G>A (p.Val185Met) c.1573G>A (p.Val525Met) c.2578G>A (p.Val860Met) c.2758G>A (p.Val920Met) | |
| 20 | g.51784544T>A | CA511025735 | SALL4 | c.2883A>T (p.Ser961=) c.552A>T (p.Ser184=) c.1572A>T (p.Ser524=) c.2577A>T (p.Ser859=) c.2757A>T (p.Ser919=) | |
| 20 | g.51784544T>C | CA511025738 | SALL4 | c.2883A>G (p.Ser961=) c.552A>G (p.Ser184=) c.1572A>G (p.Ser524=) c.2577A>G (p.Ser859=) c.2757A>G (p.Ser919=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784544T>G | CA511025740 | SALL4 | c.2883A>C (p.Ser961=) c.552A>C (p.Ser184=) c.1572A>C (p.Ser524=) c.2577A>C (p.Ser859=) c.2757A>C (p.Ser919=) | |
| 20 | g.51784544T= | CA2369155324 | SALL4 | c.2883A= (p.Ser961=) c.552A= (p.Ser184=) c.1572A= (p.Ser524=) c.2577A= (p.Ser859=) c.2757A= (p.Ser919=) | |
| 20 | g.51784545G>A | CA409006126 | SALL4 | c.2882C>T (p.Ser961Leu) c.551C>T (p.Ser184Leu) c.1571C>T (p.Ser524Leu) c.2576C>T (p.Ser859Leu) c.2756C>T (p.Ser919Leu) | |
| 20 | g.51784545G>C | CA409006127 | SALL4 | c.2882C>G (p.Ser961Ter) c.551C>G (p.Ser184Ter) c.1571C>G (p.Ser524Ter) c.2576C>G (p.Ser859Ter) c.2756C>G (p.Ser919Ter) | |
| 20 | g.51784545G>T | CA409006128 | SALL4 | c.2882C>A (p.Ser961Ter) c.551C>A (p.Ser184Ter) c.1571C>A (p.Ser524Ter) c.2576C>A (p.Ser859Ter) c.2756C>A (p.Ser919Ter) | gnomAD v4 |
| 20 | g.51784546A>C | CA409006129 | SALL4 | c.2881T>G (p.Ser961Ala) c.550T>G (p.Ser184Ala) c.1570T>G (p.Ser524Ala) c.2575T>G (p.Ser859Ala) c.2755T>G (p.Ser919Ala) | |
| 20 | g.51784546A>G | CA409006130 | SALL4 | c.2881T>C (p.Ser961Pro) c.550T>C (p.Ser184Pro) c.1570T>C (p.Ser524Pro) c.2575T>C (p.Ser859Pro) c.2755T>C (p.Ser919Pro) | |
| 20 | g.51784546A>T | CA409006131 | SALL4 | c.2881T>A (p.Ser961Thr) c.550T>A (p.Ser184Thr) c.1570T>A (p.Ser524Thr) c.2575T>A (p.Ser859Thr) c.2755T>A (p.Ser919Thr) | |
| 20 | g.51784547A>C | CA511025742 | SALL4 | c.2880T>G (p.Pro960=) c.549T>G (p.Pro183=) c.1569T>G (p.Pro523=) c.2574T>G (p.Pro858=) c.2754T>G (p.Pro918=) | |
| 20 | g.51784547A>G | CA511025743 | SALL4 | c.2880T>C (p.Pro960=) c.549T>C (p.Pro183=) c.1569T>C (p.Pro523=) c.2574T>C (p.Pro858=) c.2754T>C (p.Pro918=) | |
| 20 | g.51784547A>T | CA511025745 | SALL4 | c.2880T>A (p.Pro960=) c.549T>A (p.Pro183=) c.1569T>A (p.Pro523=) c.2574T>A (p.Pro858=) c.2754T>A (p.Pro918=) | |
| 20 | g.51784548G>A | CA409006133 | SALL4 | c.2879C>T (p.Pro960Leu) c.548C>T (p.Pro183Leu) c.1568C>T (p.Pro523Leu) c.2573C>T (p.Pro858Leu) c.2753C>T (p.Pro918Leu) | |
| 20 | g.51784548G>C | CA409006134 | SALL4 | c.2879C>G (p.Pro960Arg) c.548C>G (p.Pro183Arg) c.1568C>G (p.Pro523Arg) c.2573C>G (p.Pro858Arg) c.2753C>G (p.Pro918Arg) | |
| 20 | g.51784548G>T | CA409006132 | SALL4 | c.2879C>A (p.Pro960His) c.548C>A (p.Pro183His) c.1568C>A (p.Pro523His) c.2573C>A (p.Pro858His) c.2753C>A (p.Pro918His) | |
| 20 | g.51784549G>A | CA409006135 | SALL4 | c.2878C>T (p.Pro960Ser) c.547C>T (p.Pro183Ser) c.1567C>T (p.Pro523Ser) c.2572C>T (p.Pro858Ser) c.2752C>T (p.Pro918Ser) | gnomAD v4 |
| 20 | g.51784549G>C | CA409006137 | SALL4 | c.2878C>G (p.Pro960Ala) c.547C>G (p.Pro183Ala) c.1567C>G (p.Pro523Ala) c.2572C>G (p.Pro858Ala) c.2752C>G (p.Pro918Ala) | |
| 20 | g.51784549G>T | CA409006136 | SALL4 | c.2878C>A (p.Pro960Thr) c.547C>A (p.Pro183Thr) c.1567C>A (p.Pro523Thr) c.2572C>A (p.Pro858Thr) c.2752C>A (p.Pro918Thr) | |
| 20 | g.51784550G>A | CA511025750 | SALL4 | c.2877C>T (p.Ala959=) c.546C>T (p.Ala182=) c.1566C>T (p.Ala522=) c.2571C>T (p.Ala857=) c.2751C>T (p.Ala917=) | |
| 20 | g.51784550G>C | CA511025753 | SALL4 | c.2877C>G (p.Ala959=) c.546C>G (p.Ala182=) c.1566C>G (p.Ala522=) c.2571C>G (p.Ala857=) c.2751C>G (p.Ala917=) | |
| 20 | g.51784550G>T | CA511025755 | SALL4 | c.2877C>A (p.Ala959=) c.546C>A (p.Ala182=) c.1566C>A (p.Ala522=) c.2571C>A (p.Ala857=) c.2751C>A (p.Ala917=) | |
| 20 | g.51784551G>A | CA409006138 | SALL4 | c.2876C>T (p.Ala959Val) c.545C>T (p.Ala182Val) c.1565C>T (p.Ala522Val) c.2570C>T (p.Ala857Val) c.2750C>T (p.Ala917Val) | dbSNP |
| 20 | g.51784551G>C | CA409006140 | SALL4 | c.2876C>G (p.Ala959Gly) c.545C>G (p.Ala182Gly) c.1565C>G (p.Ala522Gly) c.2570C>G (p.Ala857Gly) c.2750C>G (p.Ala917Gly) | |
| 20 | g.51784551G>T | CA409006139 | SALL4 | c.2876C>A (p.Ala959Asp) c.545C>A (p.Ala182Asp) c.1565C>A (p.Ala522Asp) c.2570C>A (p.Ala857Asp) c.2750C>A (p.Ala917Asp) | |
| 20 | g.51784552C>A | CA409006141 | SALL4 | c.2875G>T (p.Ala959Ser) c.544G>T (p.Ala182Ser) c.1564G>T (p.Ala522Ser) c.2569G>T (p.Ala857Ser) c.2749G>T (p.Ala917Ser) | |
| 20 | g.51784552C= | CA2369155325 | SALL4 | c.2875G= (p.Ala959=) c.544G= (p.Ala182=) c.1564G= (p.Ala522=) c.2569G= (p.Ala857=) c.2749G= (p.Ala917=) | |
| 20 | g.51784552C>G | CA409006142 | SALL4 | c.2875G>C (p.Ala959Pro) c.544G>C (p.Ala182Pro) c.1564G>C (p.Ala522Pro) c.2569G>C (p.Ala857Pro) c.2749G>C (p.Ala917Pro) | |
| 20 | g.51784552C>T | CA409006143 | SALL4 | c.2875G>A (p.Ala959Thr) c.544G>A (p.Ala182Thr) c.1564G>A (p.Ala522Thr) c.2569G>A (p.Ala857Thr) c.2749G>A (p.Ala917Thr) | dbSNP gnomAD v4 |
| 20 | g.51784553C>A | CA511025760 | SALL4 | c.2874G>T (p.Leu958=) c.543G>T (p.Leu181=) c.1563G>T (p.Leu521=) c.2568G>T (p.Leu856=) c.2748G>T (p.Leu916=) | |
| 20 | g.51784553C>G | CA511025759 | SALL4 | c.2874G>C (p.Leu958=) c.543G>C (p.Leu181=) c.1563G>C (p.Leu521=) c.2568G>C (p.Leu856=) c.2748G>C (p.Leu916=) | |
| 20 | g.51784553C>T | CA511025758 | SALL4 | c.2874G>A (p.Leu958=) c.543G>A (p.Leu181=) c.1563G>A (p.Leu521=) c.2568G>A (p.Leu856=) c.2748G>A (p.Leu916=) | |
| 20 | g.51784554A= | CA2369155326 | SALL4 | c.2873T= (p.Leu958=) c.542T= (p.Leu181=) c.1562T= (p.Leu521=) c.2567T= (p.Leu856=) c.2747T= (p.Leu916=) | |
| 20 | g.51784554A>C | CA409006144 | SALL4 | c.2873T>G (p.Leu958Arg) c.542T>G (p.Leu181Arg) c.1562T>G (p.Leu521Arg) c.2567T>G (p.Leu856Arg) c.2747T>G (p.Leu916Arg) | |
| 20 | g.51784554A>G | CA409006145 | SALL4 | c.2873T>C (p.Leu958Pro) c.542T>C (p.Leu181Pro) c.1562T>C (p.Leu521Pro) c.2567T>C (p.Leu856Pro) c.2747T>C (p.Leu916Pro) | |
| 20 | g.51784554A>T | CA409006146 | SALL4 | c.2873T>A (p.Leu958Gln) c.542T>A (p.Leu181Gln) c.1562T>A (p.Leu521Gln) c.2567T>A (p.Leu856Gln) c.2747T>A (p.Leu916Gln) | ClinVar dbSNP |
| 20 | g.51784555G>A | CA511025762 | SALL4 | c.2872C>T (p.Leu958=) c.541C>T (p.Leu181=) c.1561C>T (p.Leu521=) c.2566C>T (p.Leu856=) c.2746C>T (p.Leu916=) | ClinVar |
| 20 | g.51784555G>C | CA409006147 | SALL4 | c.2872C>G (p.Leu958Val) c.541C>G (p.Leu181Val) c.1561C>G (p.Leu521Val) c.2566C>G (p.Leu856Val) c.2746C>G (p.Leu916Val) | |
| 20 | g.51784555G>T | CA409006148 | SALL4 | c.2872C>A (p.Leu958Met) c.541C>A (p.Leu181Met) c.1561C>A (p.Leu521Met) c.2566C>A (p.Leu856Met) c.2746C>A (p.Leu916Met) | |
| 20 | g.51784556G>A | CA9911980 | SALL4 | c.2871C>T (p.Ile957=) c.540C>T (p.Ile180=) c.1560C>T (p.Ile520=) c.2565C>T (p.Ile855=) c.2745C>T (p.Ile915=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51784556G>C | CA409006149 | SALL4 | c.2871C>G (p.Ile957Met) c.540C>G (p.Ile180Met) c.1560C>G (p.Ile520Met) c.2565C>G (p.Ile855Met) c.2745C>G (p.Ile915Met) | |
| 20 | g.51784556G= | CA2369155327 | SALL4 | c.2871C= (p.Ile957=) c.540C= (p.Ile180=) c.1560C= (p.Ile520=) c.2565C= (p.Ile855=) c.2745C= (p.Ile915=) | |
| 20 | g.51784556G>T | CA511025769 | SALL4 | c.2871C>A (p.Ile957=) c.540C>A (p.Ile180=) c.1560C>A (p.Ile520=) c.2565C>A (p.Ile855=) c.2745C>A (p.Ile915=) | |
| 20 | g.51784557A>C | CA409006152 | SALL4 | c.2870T>G (p.Ile957Ser) c.539T>G (p.Ile180Ser) c.1559T>G (p.Ile520Ser) c.2564T>G (p.Ile855Ser) c.2744T>G (p.Ile915Ser) | |
| 20 | g.51784557A>G | CA409006150 | SALL4 | c.2870T>C (p.Ile957Thr) c.539T>C (p.Ile180Thr) c.1559T>C (p.Ile520Thr) c.2564T>C (p.Ile855Thr) c.2744T>C (p.Ile915Thr) | |
| 20 | g.51784557A>T | CA409006151 | SALL4 | c.2870T>A (p.Ile957Asn) c.539T>A (p.Ile180Asn) c.1559T>A (p.Ile520Asn) c.2564T>A (p.Ile855Asn) c.2744T>A (p.Ile915Asn) | |
| 20 | g.51784557_51784562dup | CA9911981 | SALL4 | c.2865_2870dup (p.Glu956_Ile957insMetGlu) c.534_539dup (p.Glu179_Ile180insMetGlu) c.1554_1559dup (p.Glu519_Ile520insMetGlu) c.2559_2564dup (p.Glu854_Ile855insMetGlu) c.2739_2744dup (p.Glu914_Ile915insMetGlu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784558T>A | CA409006153 | SALL4 | c.2869A>T (p.Ile957Phe) c.538A>T (p.Ile180Phe) c.1558A>T (p.Ile520Phe) c.2563A>T (p.Ile855Phe) c.2743A>T (p.Ile915Phe) | gnomAD v4 |
| 20 | g.51784558T>C | CA409006154 | SALL4 | c.2869A>G (p.Ile957Val) c.538A>G (p.Ile180Val) c.1558A>G (p.Ile520Val) c.2563A>G (p.Ile855Val) c.2743A>G (p.Ile915Val) | |
| 20 | g.51784558T>G | CA409006155 | SALL4 | c.2869A>C (p.Ile957Leu) c.538A>C (p.Ile180Leu) c.1558A>C (p.Ile520Leu) c.2563A>C (p.Ile855Leu) c.2743A>C (p.Ile915Leu) | |
| 20 | g.51784559T>A | CA9911982 | SALL4 | c.2868A>T (p.Glu956Asp) c.537A>T (p.Glu179Asp) c.1557A>T (p.Glu519Asp) c.2562A>T (p.Glu854Asp) c.2742A>T (p.Glu914Asp) | dbSNP ExAC gnomAD v2 |
| 20 | g.51784559T>C | CA511025774 | SALL4 | c.2868A>G (p.Glu956=) c.537A>G (p.Glu179=) c.1557A>G (p.Glu519=) c.2562A>G (p.Glu854=) c.2742A>G (p.Glu914=) | dbSNP gnomAD v2 |
| 20 | g.51784559T>G | CA409006156 | SALL4 | c.2868A>C (p.Glu956Asp) c.537A>C (p.Glu179Asp) c.1557A>C (p.Glu519Asp) c.2562A>C (p.Glu854Asp) c.2742A>C (p.Glu914Asp) | |
| 20 | g.51784559T= | CA2369155328 | SALL4 | c.2868A= (p.Glu956=) c.537A= (p.Glu179=) c.1557A= (p.Glu519=) c.2562A= (p.Glu854=) c.2742A= (p.Glu914=) | |
| 20 | g.51784560T>A | CA409006157 | SALL4 | c.2867A>T (p.Glu956Val) c.536A>T (p.Glu179Val) c.1556A>T (p.Glu519Val) c.2561A>T (p.Glu854Val) c.2741A>T (p.Glu914Val) | |
| 20 | g.51784560T>C | CA409006158 | SALL4 | c.2867A>G (p.Glu956Gly) c.536A>G (p.Glu179Gly) c.1556A>G (p.Glu519Gly) c.2561A>G (p.Glu854Gly) c.2741A>G (p.Glu914Gly) | |
| 20 | g.51784560T>G | CA409006159 | SALL4 | c.2867A>C (p.Glu956Ala) c.536A>C (p.Glu179Ala) c.1556A>C (p.Glu519Ala) c.2561A>C (p.Glu854Ala) c.2741A>C (p.Glu914Ala) | |
| 20 | g.51784561C>A | CA409006160 | SALL4 | c.2866G>T (p.Glu956Ter) c.535G>T (p.Glu179Ter) c.1555G>T (p.Glu519Ter) c.2560G>T (p.Glu854Ter) c.2740G>T (p.Glu914Ter) | |
| 20 | g.51784561C>G | CA409006161 | SALL4 | c.2866G>C (p.Glu956Gln) c.535G>C (p.Glu179Gln) c.1555G>C (p.Glu519Gln) c.2560G>C (p.Glu854Gln) c.2740G>C (p.Glu914Gln) | |
| 20 | g.51784561C>T | CA409006162 | SALL4 | c.2866G>A (p.Glu956Lys) c.535G>A (p.Glu179Lys) c.1555G>A (p.Glu519Lys) c.2560G>A (p.Glu854Lys) c.2740G>A (p.Glu914Lys) | gnomAD v4 |
| 20 | g.51784562C>A | CA409006164 | SALL4 | c.2865G>T (p.Lys955Asn) c.534G>T (p.Lys178Asn) c.1554G>T (p.Lys518Asn) c.2559G>T (p.Lys853Asn) c.2739G>T (p.Lys913Asn) | |
| 20 | g.51784562C>G | CA409006163 | SALL4 | c.2865G>C (p.Lys955Asn) c.534G>C (p.Lys178Asn) c.1554G>C (p.Lys518Asn) c.2559G>C (p.Lys853Asn) c.2739G>C (p.Lys913Asn) | |
| 20 | g.51784562C>T | CA511025778 | SALL4 | c.2865G>A (p.Lys955=) c.534G>A (p.Lys178=) c.1554G>A (p.Lys518=) c.2559G>A (p.Lys853=) c.2739G>A (p.Lys913=) | |
| 20 | g.51784563T>A | CA409006165 | SALL4 | c.2864A>T (p.Lys955Met) c.533A>T (p.Lys178Met) c.1553A>T (p.Lys518Met) c.2558A>T (p.Lys853Met) c.2738A>T (p.Lys913Met) | |
| 20 | g.51784563T>C | CA9911983 | SALL4 | c.2864A>G (p.Lys955Arg) c.533A>G (p.Lys178Arg) c.1553A>G (p.Lys518Arg) c.2558A>G (p.Lys853Arg) c.2738A>G (p.Lys913Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784563T>G | CA409006166 | SALL4 | c.2864A>C (p.Lys955Thr) c.533A>C (p.Lys178Thr) c.1553A>C (p.Lys518Thr) c.2558A>C (p.Lys853Thr) c.2738A>C (p.Lys913Thr) | |
| 20 | g.51784563T= | CA2369155329 | SALL4 | c.2864A= (p.Lys955=) c.533A= (p.Lys178=) c.1553A= (p.Lys518=) c.2558A= (p.Lys853=) c.2738A= (p.Lys913=) | |
| 20 | g.51784564T>A | CA409006167 | SALL4 | c.2863A>T (p.Lys955Ter) c.532A>T (p.Lys178Ter) c.1552A>T (p.Lys518Ter) c.2557A>T (p.Lys853Ter) c.2737A>T (p.Lys913Ter) | |
| 20 | g.51784564T>C | CA409006168 | SALL4 | c.2863A>G (p.Lys955Glu) c.532A>G (p.Lys178Glu) c.1552A>G (p.Lys518Glu) c.2557A>G (p.Lys853Glu) c.2737A>G (p.Lys913Glu) | |
| 20 | g.51784564T>G | CA409006169 | SALL4 | c.2863A>C (p.Lys955Gln) c.532A>C (p.Lys178Gln) c.1552A>C (p.Lys518Gln) c.2557A>C (p.Lys853Gln) c.2737A>C (p.Lys913Gln) | |
| 20 | g.51784565G>A | CA511025783 | SALL4 | c.2862C>T (p.Pro954=) c.531C>T (p.Pro177=) c.1551C>T (p.Pro517=) c.2556C>T (p.Pro852=) c.2736C>T (p.Pro912=) | |
| 20 | g.51784565G>C | CA511025785 | SALL4 | c.2862C>G (p.Pro954=) c.531C>G (p.Pro177=) c.1551C>G (p.Pro517=) c.2556C>G (p.Pro852=) c.2736C>G (p.Pro912=) | dbSNP gnomAD v4 |
| 20 | g.51784565G= | CA2369155330 | SALL4 | c.2862C= (p.Pro954=) c.531C= (p.Pro177=) c.1551C= (p.Pro517=) c.2556C= (p.Pro852=) c.2736C= (p.Pro912=) | |
| 20 | g.51784565G>T | CA511025788 | SALL4 | c.2862C>A (p.Pro954=) c.531C>A (p.Pro177=) c.1551C>A (p.Pro517=) c.2556C>A (p.Pro852=) c.2736C>A (p.Pro912=) | |
| 20 | g.51784566G>A | CA409006172 | SALL4 | c.2861C>T (p.Pro954Leu) c.530C>T (p.Pro177Leu) c.1550C>T (p.Pro517Leu) c.2555C>T (p.Pro852Leu) c.2735C>T (p.Pro912Leu) | dbSNP |
| 20 | g.51784566G>C | CA409006170 | SALL4 | c.2861C>G (p.Pro954Arg) c.530C>G (p.Pro177Arg) c.1550C>G (p.Pro517Arg) c.2555C>G (p.Pro852Arg) c.2735C>G (p.Pro912Arg) | |
| 20 | g.51784566G= | CA2369155331 | SALL4 | c.2861C= (p.Pro954=) c.530C= (p.Pro177=) c.1550C= (p.Pro517=) c.2555C= (p.Pro852=) c.2735C= (p.Pro912=) | |
| 20 | g.51784566G>T | CA409006171 | SALL4 | c.2861C>A (p.Pro954His) c.530C>A (p.Pro177His) c.1550C>A (p.Pro517His) c.2555C>A (p.Pro852His) c.2735C>A (p.Pro912His) | |
| 20 | g.51784567G>A | CA409006173 | SALL4 | c.2860C>T (p.Pro954Ser) c.529C>T (p.Pro177Ser) c.1549C>T (p.Pro517Ser) c.2554C>T (p.Pro852Ser) c.2734C>T (p.Pro912Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784567G>C | CA409006174 | SALL4 | c.2860C>G (p.Pro954Ala) c.529C>G (p.Pro177Ala) c.1549C>G (p.Pro517Ala) c.2554C>G (p.Pro852Ala) c.2734C>G (p.Pro912Ala) | dbSNP |
| 20 | g.51784567G= | CA2369155332 | SALL4 | c.2860C= (p.Pro954=) c.529C= (p.Pro177=) c.1549C= (p.Pro517=) c.2554C= (p.Pro852=) c.2734C= (p.Pro912=) | |
| 20 | g.51784567G>T | CA409006175 | SALL4 | c.2860C>A (p.Pro954Thr) c.529C>A (p.Pro177Thr) c.1549C>A (p.Pro517Thr) c.2554C>A (p.Pro852Thr) c.2734C>A (p.Pro912Thr) | |
| 20 | g.51784568A= | CA2369155333 | SALL4 | c.2859T= (p.Phe953=) c.528T= (p.Phe176=) c.1548T= (p.Phe516=) c.2553T= (p.Phe851=) c.2733T= (p.Phe911=) | |
| 20 | g.51784568A>C | CA409006176 | SALL4 | c.2859T>G (p.Phe953Leu) c.528T>G (p.Phe176Leu) c.1548T>G (p.Phe516Leu) c.2553T>G (p.Phe851Leu) c.2733T>G (p.Phe911Leu) | |
| 20 | g.51784568A>G | CA511025796 | SALL4 | c.2859T>C (p.Phe953=) c.528T>C (p.Phe176=) c.1548T>C (p.Phe516=) c.2553T>C (p.Phe851=) c.2733T>C (p.Phe911=) | |
| 20 | g.51784568A>T | CA9911984 | SALL4 | c.2859T>A (p.Phe953Leu) c.528T>A (p.Phe176Leu) c.1548T>A (p.Phe516Leu) c.2553T>A (p.Phe851Leu) c.2733T>A (p.Phe911Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784569A>C | CA409006177 | SALL4 | c.2858T>G (p.Phe953Cys) c.527T>G (p.Phe176Cys) c.1547T>G (p.Phe516Cys) c.2552T>G (p.Phe851Cys) c.2732T>G (p.Phe911Cys) | |
| 20 | g.51784569A>G | CA409006179 | SALL4 | c.2858T>C (p.Phe953Ser) c.527T>C (p.Phe176Ser) c.1547T>C (p.Phe516Ser) c.2552T>C (p.Phe851Ser) c.2732T>C (p.Phe911Ser) | |
| 20 | g.51784569A>T | CA409006178 | SALL4 | c.2858T>A (p.Phe953Tyr) c.527T>A (p.Phe176Tyr) c.1547T>A (p.Phe516Tyr) c.2552T>A (p.Phe851Tyr) c.2732T>A (p.Phe911Tyr) | |
| 20 | g.51784570A>C | CA409006180 | SALL4 | c.2857T>G (p.Phe953Val) c.526T>G (p.Phe176Val) c.1546T>G (p.Phe516Val) c.2551T>G (p.Phe851Val) c.2731T>G (p.Phe911Val) | |
| 20 | g.51784570A>G | CA409006181 | SALL4 | c.2857T>C (p.Phe953Leu) c.526T>C (p.Phe176Leu) c.1546T>C (p.Phe516Leu) c.2551T>C (p.Phe851Leu) c.2731T>C (p.Phe911Leu) | |
| 20 | g.51784570A>T | CA409006182 | SALL4 | c.2857T>A (p.Phe953Ile) c.526T>A (p.Phe176Ile) c.1546T>A (p.Phe516Ile) c.2551T>A (p.Phe851Ile) c.2731T>A (p.Phe911Ile) | |
| 20 | g.51784571G>A | CA315366206 | SALL4 | c.2856C>T (p.Ile952=) c.525C>T (p.Ile175=) c.1545C>T (p.Ile515=) c.2550C>T (p.Ile850=) c.2730C>T (p.Ile910=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784571G>C | CA409006183 | SALL4 | c.2856C>G (p.Ile952Met) c.525C>G (p.Ile175Met) c.1545C>G (p.Ile515Met) c.2550C>G (p.Ile850Met) c.2730C>G (p.Ile910Met) | |
| 20 | g.51784571G= | CA2369155334 | SALL4 | c.2856C= (p.Ile952=) c.525C= (p.Ile175=) c.1545C= (p.Ile515=) c.2550C= (p.Ile850=) c.2730C= (p.Ile910=) | |
| 20 | g.51784571G>T | CA511025802 | SALL4 | c.2856C>A (p.Ile952=) c.525C>A (p.Ile175=) c.1545C>A (p.Ile515=) c.2550C>A (p.Ile850=) c.2730C>A (p.Ile910=) | |
| 20 | g.51784572A>C | CA409006184 | SALL4 | c.2855T>G (p.Ile952Ser) c.524T>G (p.Ile175Ser) c.1544T>G (p.Ile515Ser) c.2549T>G (p.Ile850Ser) c.2729T>G (p.Ile910Ser) | |
| 20 | g.51784572A>G | CA409006185 | SALL4 | c.2855T>C (p.Ile952Thr) c.524T>C (p.Ile175Thr) c.1544T>C (p.Ile515Thr) c.2549T>C (p.Ile850Thr) c.2729T>C (p.Ile910Thr) | |
| 20 | g.51784572A>T | CA409006186 | SALL4 | c.2855T>A (p.Ile952Asn) c.524T>A (p.Ile175Asn) c.1544T>A (p.Ile515Asn) c.2549T>A (p.Ile850Asn) c.2729T>A (p.Ile910Asn) | |
| 20 | g.51784573T>A | CA409006187 | SALL4 | c.2854A>T (p.Ile952Phe) c.523A>T (p.Ile175Phe) c.1543A>T (p.Ile515Phe) c.2548A>T (p.Ile850Phe) c.2728A>T (p.Ile910Phe) | |
| 20 | g.51784573T>C | CA409006188 | SALL4 | c.2854A>G (p.Ile952Val) c.523A>G (p.Ile175Val) c.1543A>G (p.Ile515Val) c.2548A>G (p.Ile850Val) c.2728A>G (p.Ile910Val) | |
| 20 | g.51784573T>G | CA409006189 | SALL4 | c.2854A>C (p.Ile952Leu) c.523A>C (p.Ile175Leu) c.1543A>C (p.Ile515Leu) c.2548A>C (p.Ile850Leu) c.2728A>C (p.Ile910Leu) | |
| 20 | g.51784574T>A | CA409006190 | SALL4 | c.2853A>T (p.Glu951Asp) c.522A>T (p.Glu174Asp) c.1542A>T (p.Glu514Asp) c.2547A>T (p.Glu849Asp) c.2727A>T (p.Glu909Asp) | |
| 20 | g.51784574T>C | CA511025806 | SALL4 | c.2853A>G (p.Glu951=) c.522A>G (p.Glu174=) c.1542A>G (p.Glu514=) c.2547A>G (p.Glu849=) c.2727A>G (p.Glu909=) | |
| 20 | g.51784574T>G | CA409006191 | SALL4 | c.2853A>C (p.Glu951Asp) c.522A>C (p.Glu174Asp) c.1542A>C (p.Glu514Asp) c.2547A>C (p.Glu849Asp) c.2727A>C (p.Glu909Asp) | gnomAD v4 |
| 20 | g.51784575T>A | CA409006192 | SALL4 | c.2852A>T (p.Glu951Val) c.521A>T (p.Glu174Val) c.1541A>T (p.Glu514Val) c.2546A>T (p.Glu849Val) c.2726A>T (p.Glu909Val) | |
| 20 | g.51784575T>C | CA409006194 | SALL4 | c.2852A>G (p.Glu951Gly) c.521A>G (p.Glu174Gly) c.1541A>G (p.Glu514Gly) c.2546A>G (p.Glu849Gly) c.2726A>G (p.Glu909Gly) | |
| 20 | g.51784575T>G | CA409006193 | SALL4 | c.2852A>C (p.Glu951Ala) c.521A>C (p.Glu174Ala) c.1541A>C (p.Glu514Ala) c.2546A>C (p.Glu849Ala) c.2726A>C (p.Glu909Ala) | |
| 20 | g.51784576C>A | CA409006195 | SALL4 | c.2851G>T (p.Glu951Ter) c.520G>T (p.Glu174Ter) c.1540G>T (p.Glu514Ter) c.2545G>T (p.Glu849Ter) c.2725G>T (p.Glu909Ter) | |
| 20 | g.51784576C>G | CA409006196 | SALL4 | c.2851G>C (p.Glu951Gln) c.520G>C (p.Glu174Gln) c.1540G>C (p.Glu514Gln) c.2545G>C (p.Glu849Gln) c.2725G>C (p.Glu909Gln) | |
| 20 | g.51784576C>T | CA409006197 | SALL4 | c.2851G>A (p.Glu951Lys) c.520G>A (p.Glu174Lys) c.1540G>A (p.Glu514Lys) c.2545G>A (p.Glu849Lys) c.2725G>A (p.Glu909Lys) | |
| 20 | g.51784577T>A | CA511025810 | SALL4 | c.2850A>T (p.Ser950=) c.519A>T (p.Ser173=) c.1539A>T (p.Ser513=) c.2544A>T (p.Ser848=) c.2724A>T (p.Ser908=) | |
| 20 | g.51784577T>C | CA511025813 | SALL4 | c.2850A>G (p.Ser950=) c.519A>G (p.Ser173=) c.1539A>G (p.Ser513=) c.2544A>G (p.Ser848=) c.2724A>G (p.Ser908=) | |
| 20 | g.51784577T>G | CA511025815 | SALL4 | c.2850A>C (p.Ser950=) c.519A>C (p.Ser173=) c.1539A>C (p.Ser513=) c.2544A>C (p.Ser848=) c.2724A>C (p.Ser908=) | |
| 20 | g.51784578G>A | CA409006198 | SALL4 | c.2849C>T (p.Ser950Leu) c.518C>T (p.Ser173Leu) c.1538C>T (p.Ser513Leu) c.2543C>T (p.Ser848Leu) c.2723C>T (p.Ser908Leu) | |
| 20 | g.51784578G>C | CA409006199 | SALL4 | c.2849C>G (p.Ser950Ter) c.518C>G (p.Ser173Ter) c.1538C>G (p.Ser513Ter) c.2543C>G (p.Ser848Ter) c.2723C>G (p.Ser908Ter) | |
| 20 | g.51784578G= | CA2369155336 | SALL4 | c.2849C= (p.Ser950=) c.518C= (p.Ser173=) c.1538C= (p.Ser513=) c.2543C= (p.Ser848=) c.2723C= (p.Ser908=) | |
| 20 | g.51784578G>T | CA315366214 | SALL4 | c.2849C>A (p.Ser950Ter) c.518C>A (p.Ser173Ter) c.1538C>A (p.Ser513Ter) c.2543C>A (p.Ser848Ter) c.2723C>A (p.Ser908Ter) | dbSNP gnomAD v4 |
| 20 | g.51784578_51784579delinsGA | CA2369155335 | SALL4 | c.2848_2849delinsTC (p.Ser950=) c.517_518delinsTC (p.Ser173=) c.1537_1538delinsTC (p.Ser513=) c.2542_2543delinsTC (p.Ser848=) c.2722_2723delinsTC (p.Ser908=) | |
| 20 | g.51784578_51784579delinsTT | CA16620940 | SALL4 | c.2848_2849delinsAA (p.Ser950Lys) c.517_518delinsAA (p.Ser173Lys) c.1537_1538delinsAA (p.Ser513Lys) c.2542_2543delinsAA (p.Ser848Lys) c.2722_2723delinsAA (p.Ser908Lys) | ClinVar dbSNP |
| 20 | g.51784579A= | CA2369155337 | SALL4 | c.2848T= (p.Ser950=) c.517T= (p.Ser173=) c.1537T= (p.Ser513=) c.2542T= (p.Ser848=) c.2722T= (p.Ser908=) | |
| 20 | g.51784579A>C | CA409006200 | SALL4 | c.2848T>G (p.Ser950Ala) c.517T>G (p.Ser173Ala) c.1537T>G (p.Ser513Ala) c.2542T>G (p.Ser848Ala) c.2722T>G (p.Ser908Ala) | |
| 20 | g.51784579A>G | CA409006201 | SALL4 | c.2848T>C (p.Ser950Pro) c.517T>C (p.Ser173Pro) c.1537T>C (p.Ser513Pro) c.2542T>C (p.Ser848Pro) c.2722T>C (p.Ser908Pro) | |
| 20 | g.51784579A>T | CA315366225 | SALL4 | c.2848T>A (p.Ser950Thr) c.517T>A (p.Ser173Thr) c.1537T>A (p.Ser513Thr) c.2542T>A (p.Ser848Thr) c.2722T>A (p.Ser908Thr) | dbSNP gnomAD v4 |
| 20 | g.51784580G>A | CA511025818 | SALL4 | c.2847C>T (p.Val949=) c.516C>T (p.Val172=) c.1536C>T (p.Val512=) c.2541C>T (p.Val847=) c.2721C>T (p.Val907=) | |
| 20 | g.51784580G>C | CA511025820 | SALL4 | c.2847C>G (p.Val949=) c.516C>G (p.Val172=) c.1536C>G (p.Val512=) c.2541C>G (p.Val847=) c.2721C>G (p.Val907=) | |
| 20 | g.51784580G>T | CA511025819 | SALL4 | c.2847C>A (p.Val949=) c.516C>A (p.Val172=) c.1536C>A (p.Val512=) c.2541C>A (p.Val847=) c.2721C>A (p.Val907=) | |
| 20 | g.51784581A= | CA2369155338 | SALL4 | c.2846T= (p.Val949=) c.515T= (p.Val172=) c.1535T= (p.Val512=) c.2540T= (p.Val847=) c.2720T= (p.Val907=) | |
| 20 | g.51784581A>C | CA409006202 | SALL4 | c.2846T>G (p.Val949Gly) c.515T>G (p.Val172Gly) c.1535T>G (p.Val512Gly) c.2540T>G (p.Val847Gly) c.2720T>G (p.Val907Gly) | |
| 20 | g.51784581A>G | CA315366236 | SALL4 | c.2846T>C (p.Val949Ala) c.515T>C (p.Val172Ala) c.1535T>C (p.Val512Ala) c.2540T>C (p.Val847Ala) c.2720T>C (p.Val907Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784581A>T | CA409006203 | SALL4 | c.2846T>A (p.Val949Asp) c.515T>A (p.Val172Asp) c.1535T>A (p.Val512Asp) c.2540T>A (p.Val847Asp) c.2720T>A (p.Val907Asp) | |
| 20 | g.51784582C>A | CA409006206 | SALL4 | c.2845G>T (p.Val949Phe) c.514G>T (p.Val172Phe) c.1534G>T (p.Val512Phe) c.2539G>T (p.Val847Phe) c.2719G>T (p.Val907Phe) | |
| 20 | g.51784582C= | CA2369155339 | SALL4 | c.2845G= (p.Val949=) c.514G= (p.Val172=) c.1534G= (p.Val512=) c.2539G= (p.Val847=) c.2719G= (p.Val907=) | |
| 20 | g.51784582C>G | CA409006204 | SALL4 | c.2845G>C (p.Val949Leu) c.514G>C (p.Val172Leu) c.1534G>C (p.Val512Leu) c.2539G>C (p.Val847Leu) c.2719G>C (p.Val907Leu) | |
| 20 | g.51784582C>T | CA409006205 | SALL4 | c.2845G>A (p.Val949Ile) c.514G>A (p.Val172Ile) c.1534G>A (p.Val512Ile) c.2539G>A (p.Val847Ile) c.2719G>A (p.Val907Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.51784583T>A | CA409006207 | SALL4 | c.2844A>T (p.Arg948Ser) c.513A>T (p.Arg171Ser) c.1533A>T (p.Arg511Ser) c.2538A>T (p.Arg846Ser) c.2718A>T (p.Arg906Ser) | |
| 20 | g.51784583T>C | CA9911985 | SALL4 | c.2844A>G (p.Arg948=) c.513A>G (p.Arg171=) c.1533A>G (p.Arg511=) c.2538A>G (p.Arg846=) c.2718A>G (p.Arg906=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784583T>G | CA409006208 | SALL4 | c.2844A>C (p.Arg948Ser) c.513A>C (p.Arg171Ser) c.1533A>C (p.Arg511Ser) c.2538A>C (p.Arg846Ser) c.2718A>C (p.Arg906Ser) | |
| 20 | g.51784583T= | CA2369155340 | SALL4 | c.2844A= (p.Arg948=) c.513A= (p.Arg171=) c.1533A= (p.Arg511=) c.2538A= (p.Arg846=) c.2718A= (p.Arg906=) | |
| 20 | g.51784584C>A | CA409006209 | SALL4 | c.2843G>T (p.Arg948Ile) c.512G>T (p.Arg171Ile) c.1532G>T (p.Arg511Ile) c.2537G>T (p.Arg846Ile) c.2717G>T (p.Arg906Ile) | dbSNP |
| 20 | g.51784584C= | CA2369155341 | SALL4 | c.2843G= (p.Arg948=) c.512G= (p.Arg171=) c.1532G= (p.Arg511=) c.2537G= (p.Arg846=) c.2717G= (p.Arg906=) | |
| 20 | g.51784584C>G | CA315366254 | SALL4 | c.2843G>C (p.Arg948Thr) c.512G>C (p.Arg171Thr) c.1532G>C (p.Arg511Thr) c.2537G>C (p.Arg846Thr) c.2717G>C (p.Arg906Thr) | dbSNP |
| 20 | g.51784584C>T | CA409006210 | SALL4 | c.2843G>A (p.Arg948Lys) c.512G>A (p.Arg171Lys) c.1532G>A (p.Arg511Lys) c.2537G>A (p.Arg846Lys) c.2717G>A (p.Arg906Lys) | gnomAD v4 |
| 20 | g.51784584_51784586delinsCTT | CA2369155342 | SALL4 | c.2841_2843delinsAAG (p.Lys947=) c.510_512delinsAAG (p.Lys170=) c.1530_1532delinsAAG (p.Lys510=) c.2535_2537delinsAAG (p.Lys845=) c.2715_2717delinsAAG (p.Lys905=) | |
| 20 | g.51784585T>A | CA409006211 | SALL4 | c.2842A>T (p.Arg948Ter) c.511A>T (p.Arg171Ter) c.1531A>T (p.Arg511Ter) c.2536A>T (p.Arg846Ter) c.2716A>T (p.Arg906Ter) | |
| 20 | g.51784585T>C | CA409006212 | SALL4 | c.2842A>G (p.Arg948Gly) c.511A>G (p.Arg171Gly) c.1531A>G (p.Arg511Gly) c.2536A>G (p.Arg846Gly) c.2716A>G (p.Arg906Gly) | |
| 20 | g.51784585T>G | CA511025829 | SALL4 | c.2842A>C (p.Arg948=) c.511A>C (p.Arg171=) c.1531A>C (p.Arg511=) c.2536A>C (p.Arg846=) c.2716A>C (p.Arg906=) | |
| 20 | g.51784589del | CA915940763 | SALL4 | c.2842del (p.Arg948GlufsTer15) c.511del (p.Arg171GlufsTer15) c.1531del (p.Arg511GlufsTer15) c.2536del (p.Arg846GlufsTer15) c.2716del (p.Arg906GlufsTer15) | |
| 20 | g.51784588_51784589del | CA658799372 | SALL4 | c.2841_2842del (p.Arg948SerfsTer?) c.510_511del (p.Arg171SerfsTer?) c.1530_1531del (p.Arg511SerfsTer?) c.2535_2536del (p.Arg846SerfsTer?) c.2715_2716del (p.Arg906SerfsTer?) | ClinVar dbSNP gnomAD v4 |
| 20 | g.51784586T>A | CA409006213 | SALL4 | c.2841A>T (p.Lys947Asn) c.510A>T (p.Lys170Asn) c.1530A>T (p.Lys510Asn) c.2535A>T (p.Lys845Asn) c.2715A>T (p.Lys905Asn) | |
| 20 | g.51784586T>C | CA511025831 | SALL4 | c.2841A>G (p.Lys947=) c.510A>G (p.Lys170=) c.1530A>G (p.Lys510=) c.2535A>G (p.Lys845=) c.2715A>G (p.Lys905=) | |
| 20 | g.51784586T>G | CA409006214 | SALL4 | c.2841A>C (p.Lys947Asn) c.510A>C (p.Lys170Asn) c.1530A>C (p.Lys510Asn) c.2535A>C (p.Lys845Asn) c.2715A>C (p.Lys905Asn) | |
| 20 | g.51784587T>A | CA409006217 | SALL4 | c.2840A>T (p.Lys947Ile) c.509A>T (p.Lys170Ile) c.1529A>T (p.Lys510Ile) c.2534A>T (p.Lys845Ile) c.2714A>T (p.Lys905Ile) | |
| 20 | g.51784587T>C | CA409006216 | SALL4 | c.2840A>G (p.Lys947Arg) c.509A>G (p.Lys170Arg) c.1529A>G (p.Lys510Arg) c.2534A>G (p.Lys845Arg) c.2714A>G (p.Lys905Arg) | dbSNP gnomAD v4 |
| 20 | g.51784587T>G | CA409006215 | SALL4 | c.2840A>C (p.Lys947Thr) c.509A>C (p.Lys170Thr) c.1529A>C (p.Lys510Thr) c.2534A>C (p.Lys845Thr) c.2714A>C (p.Lys905Thr) | |
| 20 | g.51784587T= | CA2369155343 | SALL4 | c.2840A= (p.Lys947=) c.509A= (p.Lys170=) c.1529A= (p.Lys510=) c.2534A= (p.Lys845=) c.2714A= (p.Lys905=) | |
| 20 | g.51784588T>A | CA409006218 | SALL4 | c.2839A>T (p.Lys947Ter) c.508A>T (p.Lys170Ter) c.1528A>T (p.Lys510Ter) c.2533A>T (p.Lys845Ter) c.2713A>T (p.Lys905Ter) | |
| 20 | g.51784588T>C | CA409006219 | SALL4 | c.2839A>G (p.Lys947Glu) c.508A>G (p.Lys170Glu) c.1528A>G (p.Lys510Glu) c.2533A>G (p.Lys845Glu) c.2713A>G (p.Lys905Glu) | |
| 20 | g.51784588T>G | CA409006220 | SALL4 | c.2839A>C (p.Lys947Gln) c.508A>C (p.Lys170Gln) c.1528A>C (p.Lys510Gln) c.2533A>C (p.Lys845Gln) c.2713A>C (p.Lys905Gln) | |
| 20 | g.51784589T>A | CA511025835 | SALL4 | c.2838A>T (p.Gly946=) c.507A>T (p.Gly169=) c.1527A>T (p.Gly509=) c.2532A>T (p.Gly844=) c.2712A>T (p.Gly904=) | |
| 20 | g.51784589T>C | CA511025833 | SALL4 | c.2838A>G (p.Gly946=) c.507A>G (p.Gly169=) c.1527A>G (p.Gly509=) c.2532A>G (p.Gly844=) c.2712A>G (p.Gly904=) | |
| 20 | g.51784589T>G | CA511025834 | SALL4 | c.2838A>C (p.Gly946=) c.507A>C (p.Gly169=) c.1527A>C (p.Gly509=) c.2532A>C (p.Gly844=) c.2712A>C (p.Gly904=) | |
| 20 | g.51784590C>A | CA409006221 | SALL4 | c.2837G>T (p.Gly946Val) c.506G>T (p.Gly169Val) c.1526G>T (p.Gly509Val) c.2531G>T (p.Gly844Val) c.2711G>T (p.Gly904Val) | |
| 20 | g.51784590C>G | CA409006222 | SALL4 | c.2837G>C (p.Gly946Ala) c.506G>C (p.Gly169Ala) c.1526G>C (p.Gly509Ala) c.2531G>C (p.Gly844Ala) c.2711G>C (p.Gly904Ala) | |
| 20 | g.51784590C>T | CA409006223 | SALL4 | c.2837G>A (p.Gly946Glu) c.506G>A (p.Gly169Glu) c.1526G>A (p.Gly509Glu) c.2531G>A (p.Gly844Glu) c.2711G>A (p.Gly904Glu) | |
| 20 | g.51784591C>A | CA409006224 | SALL4 | c.2836G>T (p.Gly946Ter) c.505G>T (p.Gly169Ter) c.1525G>T (p.Gly509Ter) c.2530G>T (p.Gly844Ter) c.2710G>T (p.Gly904Ter) | |
| 20 | g.51784591C= | CA2369155344 | SALL4 | c.2836G= (p.Gly946=) c.505G= (p.Gly169=) c.1525G= (p.Gly509=) c.2530G= (p.Gly844=) c.2710G= (p.Gly904=) | |
| 20 | g.51784591C>G | CA409006225 | SALL4 | c.2836G>C (p.Gly946Arg) c.505G>C (p.Gly169Arg) c.1525G>C (p.Gly509Arg) c.2530G>C (p.Gly844Arg) c.2710G>C (p.Gly904Arg) | |
| 20 | g.51784591C>T | CA315366255 | SALL4 | c.2836G>A (p.Gly946Arg) c.505G>A (p.Gly169Arg) c.1525G>A (p.Gly509Arg) c.2530G>A (p.Gly844Arg) c.2710G>A (p.Gly904Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784592G>A | CA9911986 | SALL4 | c.2835C>T (p.Asp945=) c.504C>T (p.Asp168=) c.1524C>T (p.Asp508=) c.2529C>T (p.Asp843=) c.2709C>T (p.Asp903=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784592G>C | CA409006226 | SALL4 | c.2835C>G (p.Asp945Glu) c.504C>G (p.Asp168Glu) c.1524C>G (p.Asp508Glu) c.2529C>G (p.Asp843Glu) c.2709C>G (p.Asp903Glu) | |
| 20 | g.51784592G= | CA2369155345 | SALL4 | c.2835C= (p.Asp945=) c.504C= (p.Asp168=) c.1524C= (p.Asp508=) c.2529C= (p.Asp843=) c.2709C= (p.Asp903=) | |
| 20 | g.51784592G>T | CA409006227 | SALL4 | c.2835C>A (p.Asp945Glu) c.504C>A (p.Asp168Glu) c.1524C>A (p.Asp508Glu) c.2529C>A (p.Asp843Glu) c.2709C>A (p.Asp903Glu) | dbSNP gnomAD v4 |
| 20 | g.51784593T>A | CA409006230 | SALL4 | c.2834A>T (p.Asp945Val) c.503A>T (p.Asp168Val) c.1523A>T (p.Asp508Val) c.2528A>T (p.Asp843Val) c.2708A>T (p.Asp903Val) | |
| 20 | g.51784593T>C | CA409006229 | SALL4 | c.2834A>G (p.Asp945Gly) c.503A>G (p.Asp168Gly) c.1523A>G (p.Asp508Gly) c.2528A>G (p.Asp843Gly) c.2708A>G (p.Asp903Gly) | dbSNP gnomAD v4 |
| 20 | g.51784593T>G | CA409006228 | SALL4 | c.2834A>C (p.Asp945Ala) c.503A>C (p.Asp168Ala) c.1523A>C (p.Asp508Ala) c.2528A>C (p.Asp843Ala) c.2708A>C (p.Asp903Ala) | |
| 20 | g.51784593T= | CA2369155346 | SALL4 | c.2834A= (p.Asp945=) c.503A= (p.Asp168=) c.1523A= (p.Asp508=) c.2528A= (p.Asp843=) c.2708A= (p.Asp903=) | |
| 20 | g.51784594C>A | CA409006231 | SALL4 | c.2833G>T (p.Asp945Tyr) c.502G>T (p.Asp168Tyr) c.1522G>T (p.Asp508Tyr) c.2527G>T (p.Asp843Tyr) c.2707G>T (p.Asp903Tyr) | |
| 20 | g.51784594C= | CA2369155347 | SALL4 | c.2833G= (p.Asp945=) c.502G= (p.Asp168=) c.1522G= (p.Asp508=) c.2527G= (p.Asp843=) c.2707G= (p.Asp903=) | |
| 20 | g.51784594C>G | CA409006232 | SALL4 | c.2833G>C (p.Asp945His) c.502G>C (p.Asp168His) c.1522G>C (p.Asp508His) c.2527G>C (p.Asp843His) c.2707G>C (p.Asp903His) | |
| 20 | g.51784594C>T | CA9911987 | SALL4 | c.2833G>A (p.Asp945Asn) c.502G>A (p.Asp168Asn) c.1522G>A (p.Asp508Asn) c.2527G>A (p.Asp843Asn) c.2707G>A (p.Asp903Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784594_51784595delinsTT | CA645610836 | SALL4 | c.2832_2833delinsAA (p.Asp945Asn) c.501_502delinsAA (p.Asp168Asn) c.1521_1522delinsAA (p.Asp508Asn) c.2526_2527delinsAA (p.Asp843Asn) c.2706_2707delinsAA (p.Asp903Asn) | COSMIC |
| 20 | g.51784595C>A | CA511025843 | SALL4 | c.2832G>T (p.Thr944=) c.501G>T (p.Thr167=) c.1521G>T (p.Thr507=) c.2526G>T (p.Thr842=) c.2706G>T (p.Thr902=) | |
| 20 | g.51784595C= | CA2369155348 | SALL4 | c.2832G= (p.Thr944=) c.501G= (p.Thr167=) c.1521G= (p.Thr507=) c.2526G= (p.Thr842=) c.2706G= (p.Thr902=) | |
| 20 | g.51784595C>G | CA511025844 | SALL4 | c.2832G>C (p.Thr944=) c.501G>C (p.Thr167=) c.1521G>C (p.Thr507=) c.2526G>C (p.Thr842=) c.2706G>C (p.Thr902=) | |
| 20 | g.51784595C>T | CA9911988 | SALL4 | c.2832G>A (p.Thr944=) c.501G>A (p.Thr167=) c.1521G>A (p.Thr507=) c.2526G>A (p.Thr842=) c.2706G>A (p.Thr902=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784596G>A | CA409006233 | SALL4 | c.2831C>T (p.Thr944Met) c.500C>T (p.Thr167Met) c.1520C>T (p.Thr507Met) c.2525C>T (p.Thr842Met) c.2705C>T (p.Thr902Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784596G>C | CA409006234 | SALL4 | c.2831C>G (p.Thr944Arg) c.500C>G (p.Thr167Arg) c.1520C>G (p.Thr507Arg) c.2525C>G (p.Thr842Arg) c.2705C>G (p.Thr902Arg) | gnomAD v4 |
| 20 | g.51784596G= | CA2369155349 | SALL4 | c.2831C= (p.Thr944=) c.500C= (p.Thr167=) c.1520C= (p.Thr507=) c.2525C= (p.Thr842=) c.2705C= (p.Thr902=) | |
| 20 | g.51784596G>T | CA409006235 | SALL4 | c.2831C>A (p.Thr944Lys) c.500C>A (p.Thr167Lys) c.1520C>A (p.Thr507Lys) c.2525C>A (p.Thr842Lys) c.2705C>A (p.Thr902Lys) |