| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.44265096_44265125del | CA2613210123 | ALX4 | c.967_996del (p.Val323_Met332del) c.445_474del (p.Val149_Met158del) | gnomAD v4 |
| 11 | g.44265104_44265114delinsGGCACCGGGTC | CA1967914980 | ALX4 | c.976_986delinsGACCCGGTGCC (p.Asp326=) c.454_464delinsGACCCGGTGCC (p.Asp152=) | |
| 11 | g.44265105G>A | CA380181660 | ALX4 | c.985C>T (p.Pro329Ser) c.463C>T (p.Pro155Ser) | gnomAD v4 |
| 11 | g.44265105G>C | CA380181661 | ALX4 | c.985C>G (p.Pro329Ala) c.463C>G (p.Pro155Ala) | |
| 11 | g.44265105G= | CA1967914990 | ALX4 | c.985C= (p.Pro329=) c.463C= (p.Pro155=) | |
| 11 | g.44265105G>T | CA380181662 | ALX4 | c.985C>A (p.Pro329Thr) c.463C>A (p.Pro155Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265105_44265114delinsAGTTGCCATCTCTGTTGAGATCTTAG | CA270670 | ALX4 | c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326LeufsTer?) c.454_463delinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp152LeufsTer?) | ClinVar dbSNP |
| 11 | g.44265106C>A | CA474035367 | ALX4 | c.984G>T (p.Val328=) c.462G>T (p.Val154=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265106C= | CA1967914995 | ALX4 | c.984G= (p.Val328=) c.462G= (p.Val154=) | |
| 11 | g.44265106C>G | CA474035369 | ALX4 | c.984G>C (p.Val328=) c.462G>C (p.Val154=) | |
| 11 | g.44265106C>T | CA474035370 | ALX4 | c.984G>A (p.Val328=) c.462G>A (p.Val154=) | |
| 11 | g.44265107A>C | CA380181663 | ALX4 | c.983T>G (p.Val328Gly) c.461T>G (p.Val154Gly) | |
| 11 | g.44265107A>G | CA380181664 | ALX4 | c.983T>C (p.Val328Ala) c.461T>C (p.Val154Ala) | |
| 11 | g.44265107A>T | CA380181665 | ALX4 | c.983T>A (p.Val328Glu) c.461T>A (p.Val154Glu) | |
| 11 | g.44265108C>A | CA380181666 | ALX4 | c.982G>T (p.Val328Leu) c.460G>T (p.Val154Leu) | |
| 11 | g.44265108C= | CA1967914998 | ALX4 | c.982G= (p.Val328=) c.460G= (p.Val154=) | |
| 11 | g.44265108C>G | CA380181667 | ALX4 | c.982G>C (p.Val328Leu) c.460G>C (p.Val154Leu) | |
| 11 | g.44265108C>T | CA380181668 | ALX4 | c.982G>A (p.Val328Met) c.460G>A (p.Val154Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44265109C>A | CA474035373 | ALX4 | c.981G>T (p.Pro327=) c.459G>T (p.Pro153=) | |
| 11 | g.44265109C= | CA1967915002 | ALX4 | c.981G= (p.Pro327=) c.459G= (p.Pro153=) | |
| 11 | g.44265109C>G | CA474035371 | ALX4 | c.981G>C (p.Pro327=) c.459G>C (p.Pro153=) | |
| 11 | g.44265109C>T | CA5955558 | ALX4 | c.981G>A (p.Pro327=) c.459G>A (p.Pro153=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265110G>A | CA5955559 | ALX4 | c.980C>T (p.Pro327Leu) c.458C>T (p.Pro153Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265110G>C | CA380181669 | ALX4 | c.980C>G (p.Pro327Arg) c.458C>G (p.Pro153Arg) | dbSNP |
| 11 | g.44265110G= | CA1967915047 | ALX4 | c.980C= (p.Pro327=) c.458C= (p.Pro153=) | |
| 11 | g.44265110G>T | CA221487741 | ALX4 | c.980C>A (p.Pro327Gln) c.458C>A (p.Pro153Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44265111G>A | CA380181670 | ALX4 | c.979C>T (p.Pro327Ser) c.457C>T (p.Pro153Ser) | |
| 11 | g.44265111G>C | CA380181671 | ALX4 | c.979C>G (p.Pro327Ala) c.457C>G (p.Pro153Ala) | |
| 11 | g.44265111G>T | CA380181672 | ALX4 | c.979C>A (p.Pro327Thr) c.457C>A (p.Pro153Thr) | |
| 11 | g.44265111_44265113dup | CA2613210124 | ALX4 | c.977_979dup (p.Asp326_Pro327insHis) c.455_457dup (p.Asp152_Pro153insHis) | gnomAD v4 |
| 11 | g.44265112G>A | CA474035380 | ALX4 | c.978C>T (p.Asp326=) c.456C>T (p.Asp152=) | |
| 11 | g.44265112G>C | CA380181673 | ALX4 | c.978C>G (p.Asp326Glu) c.456C>G (p.Asp152Glu) | |
| 11 | g.44265112G>T | CA380181674 | ALX4 | c.978C>A (p.Asp326Glu) c.456C>A (p.Asp152Glu) | |
| 11 | g.44265113T>A | CA380181675 | ALX4 | c.977A>T (p.Asp326Val) c.455A>T (p.Asp152Val) | |
| 11 | g.44265113T>C | CA380181676 | ALX4 | c.977A>G (p.Asp326Gly) c.455A>G (p.Asp152Gly) | |
| 11 | g.44265113T>G | CA380181677 | ALX4 | c.977A>C (p.Asp326Ala) c.455A>C (p.Asp152Ala) | |
| 11 | g.44265114C>A | CA380181678 | ALX4 | c.976G>T (p.Asp326Tyr) c.454G>T (p.Asp152Tyr) | dbSNP gnomAD v2 |
| 11 | g.44265114C= | CA1967915052 | ALX4 | c.976G= (p.Asp326=) c.454G= (p.Asp152=) | |
| 11 | g.44265114C>G | CA380181679 | ALX4 | c.976G>C (p.Asp326His) c.454G>C (p.Asp152His) | |
| 11 | g.44265114C>T | CA5955560 | ALX4 | c.976G>A (p.Asp326Asn) c.454G>A (p.Asp152Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265115G>A | CA221487758 | ALX4 | c.975C>T (p.Cys325=) c.453C>T (p.Cys151=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.44265115G>C | CA380181680 | ALX4 | c.975C>G (p.Cys325Trp) c.453C>G (p.Cys151Trp) | |
| 11 | g.44265115G= | CA1967915056 | ALX4 | c.975C= (p.Cys325=) c.453C= (p.Cys151=) | |
| 11 | g.44265115G>T | CA380181681 | ALX4 | c.975C>A (p.Cys325Ter) c.453C>A (p.Cys151Ter) | |
| 11 | g.44265116C>A | CA380181682 | ALX4 | c.974G>T (p.Cys325Phe) c.452G>T (p.Cys151Phe) | |
| 11 | g.44265116C>G | CA380181684 | ALX4 | c.974G>C (p.Cys325Ser) c.452G>C (p.Cys151Ser) | |
| 11 | g.44265116C>T | CA380181683 | ALX4 | c.974G>A (p.Cys325Tyr) c.452G>A (p.Cys151Tyr) | |
| 11 | g.44265117A>C | CA380181685 | ALX4 | c.973T>G (p.Cys325Gly) c.451T>G (p.Cys151Gly) | |
| 11 | g.44265117A>G | CA380181686 | ALX4 | c.973T>C (p.Cys325Arg) c.451T>C (p.Cys151Arg) | |
| 11 | g.44265117A>T | CA380181687 | ALX4 | c.973T>A (p.Cys325Ser) c.451T>A (p.Cys151Ser) | gnomAD v4 |