| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.44265005G>A | CA5955533 | ALX4 | c.1085C>T (p.Thr362Met) c.563C>T (p.Thr188Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265005G>C | CA380181370 | ALX4 | c.1085C>G (p.Thr362Arg) c.563C>G (p.Thr188Arg) | gnomAD v4 |
| 11 | g.44265005G= | CA1967914752 | ALX4 | c.1085C= (p.Thr362=) c.563C= (p.Thr188=) | |
| 11 | g.44265005G>T | CA380181372 | ALX4 | c.1085C>A (p.Thr362Lys) c.563C>A (p.Thr188Lys) | |
| 11 | g.44265006T>A | CA380181375 | ALX4 | c.1084A>T (p.Thr362Ser) c.562A>T (p.Thr188Ser) | |
| 11 | g.44265006T>C | CA5955534 | ALX4 | c.1084A>G (p.Thr362Ala) c.562A>G (p.Thr188Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265006T>G | CA380181378 | ALX4 | c.1084A>C (p.Thr362Pro) c.562A>C (p.Thr188Pro) | |
| 11 | g.44265006T= | CA1967914758 | ALX4 | c.1084A= (p.Thr362=) c.562A= (p.Thr188=) | |
| 11 | g.44265007C>A | CA380181380 | ALX4 | c.1083G>T (p.Gln361His) c.561G>T (p.Gln187His) | |
| 11 | g.44265007C= | CA1967914759 | ALX4 | c.1083G= (p.Gln361=) c.561G= (p.Gln187=) | |
| 11 | g.44265007C>G | CA380181382 | ALX4 | c.1083G>C (p.Gln361His) c.561G>C (p.Gln187His) | |
| 11 | g.44265007C>T | CA5955535 | ALX4 | c.1083G>A (p.Gln361=) c.561G>A (p.Gln187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265008T>A | CA5955536 | ALX4 | c.1082A>T (p.Gln361Leu) c.560A>T (p.Gln187Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265008T>C | CA221487556 | ALX4 | c.1082A>G (p.Gln361Arg) c.560A>G (p.Gln187Arg) | dbSNP gnomAD v4 |
| 11 | g.44265008T>G | CA380181386 | ALX4 | c.1082A>C (p.Gln361Pro) c.560A>C (p.Gln187Pro) | |
| 11 | g.44265008T= | CA1967914763 | ALX4 | c.1082A= (p.Gln361=) c.560A= (p.Gln187=) | |
| 11 | g.44265009G>A | CA380181392 | ALX4 | c.1081C>T (p.Gln361Ter) c.559C>T (p.Gln187Ter) | |
| 11 | g.44265009G>C | CA380181389 | ALX4 | c.1081C>G (p.Gln361Glu) c.559C>G (p.Gln187Glu) | |
| 11 | g.44265009G>T | CA380181391 | ALX4 | c.1081C>A (p.Gln361Lys) c.559C>A (p.Gln187Lys) | |
| 11 | g.44265010G>A | CA221487557 | ALX4 | c.1080C>T (p.Gly360=) c.558C>T (p.Gly186=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265010G>C | CA474035245 | ALX4 | c.1080C>G (p.Gly360=) c.558C>G (p.Gly186=) | |
| 11 | g.44265010G= | CA1967914766 | ALX4 | c.1080C= (p.Gly360=) c.558C= (p.Gly186=) | |
| 11 | g.44265010G>T | CA474035243 | ALX4 | c.1080C>A (p.Gly360=) c.558C>A (p.Gly186=) | |
| 11 | g.44265011C>A | CA380181395 | ALX4 | c.1079G>T (p.Gly360Val) c.557G>T (p.Gly186Val) | |
| 11 | g.44265011C>G | CA380181397 | ALX4 | c.1079G>C (p.Gly360Ala) c.557G>C (p.Gly186Ala) | |
| 11 | g.44265011C>T | CA380181398 | ALX4 | c.1079G>A (p.Gly360Asp) c.557G>A (p.Gly186Asp) | gnomAD v4 |
| 11 | g.44265012C>A | CA380181404 | ALX4 | c.1078G>T (p.Gly360Cys) c.556G>T (p.Gly186Cys) | |
| 11 | g.44265012C>G | CA380181403 | ALX4 | c.1078G>C (p.Gly360Arg) c.556G>C (p.Gly186Arg) | |
| 11 | g.44265012C>T | CA380181401 | ALX4 | c.1078G>A (p.Gly360Ser) c.556G>A (p.Gly186Ser) | gnomAD v4 |
| 11 | g.44265013C>A | CA474035247 | ALX4 | c.1077G>T (p.Val359=) c.555G>T (p.Val185=) | |
| 11 | g.44265013C>G | CA474035248 | ALX4 | c.1077G>C (p.Val359=) c.555G>C (p.Val185=) | |
| 11 | g.44265013C>T | CA474035249 | ALX4 | c.1077G>A (p.Val359=) c.555G>A (p.Val185=) | |
| 11 | g.44265014A>C | CA380181406 | ALX4 | c.1076T>G (p.Val359Gly) c.554T>G (p.Val185Gly) | |
| 11 | g.44265014A>G | CA380181409 | ALX4 | c.1076T>C (p.Val359Ala) c.554T>C (p.Val185Ala) | |
| 11 | g.44265014A>T | CA380181410 | ALX4 | c.1076T>A (p.Val359Glu) c.554T>A (p.Val185Glu) | |
| 11 | g.44265015C>A | CA380181412 | ALX4 | c.1075G>T (p.Val359Leu) c.553G>T (p.Val185Leu) | |
| 11 | g.44265015C= | CA1967914771 | ALX4 | c.1075G= (p.Val359=) c.553G= (p.Val185=) | |
| 11 | g.44265015C>G | CA380181414 | ALX4 | c.1075G>C (p.Val359Leu) c.553G>C (p.Val185Leu) | |
| 11 | g.44265015C>T | CA5955537 | ALX4 | c.1075G>A (p.Val359Met) c.553G>A (p.Val185Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265016G>A | CA5955538 | ALX4 | c.1074C>T (p.His358=) c.552C>T (p.His184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265016G>C | CA380181420 | ALX4 | c.1074C>G (p.His358Gln) c.552C>G (p.His184Gln) | dbSNP |
| 11 | g.44265016G= | CA1630848662 | ALX4 | c.1074C= (p.His358=) c.552C= (p.His184=) | |
| 11 | g.44265016G>T | CA380181418 | ALX4 | c.1074C>A (p.His358Gln) c.552C>A (p.His184Gln) | |
| 11 | g.44265016_44265017insACTGCCAGCCCCAGACACACTCAGCGTCACCGACTTCCTGAGTGTGTCA | CA937450501 | ALX4 | c.1073_1074insTGACACACTCAGGAAGTCGGTGACGCTGAGTGTGTCTGGGGCTGGCAGT (p.Val359AspfsTer?) c.551_552insTGACACACTCAGGAAGTCGGTGACGCTGAGTGTGTCTGGGGCTGGCAGT (p.Val185AspfsTer?) | gnomAD v3 gnomAD v4 |
| 11 | g.44265017T>A | CA380181423 | ALX4 | c.1073A>T (p.His358Leu) c.551A>T (p.His184Leu) | |
| 11 | g.44265017T>C | CA380181425 | ALX4 | c.1073A>G (p.His358Arg) c.551A>G (p.His184Arg) | |
| 11 | g.44265017T>G | CA380181426 | ALX4 | c.1073A>C (p.His358Pro) c.551A>C (p.His184Pro) | |
| 11 | g.44265018G>A | CA380181429 | ALX4 | c.1072C>T (p.His358Tyr) c.550C>T (p.His184Tyr) | |
| 11 | g.44265018G>C | CA380181430 | ALX4 | c.1072C>G (p.His358Asp) c.550C>G (p.His184Asp) | |
| 11 | g.44265018G>T | CA380181431 | ALX4 | c.1072C>A (p.His358Asn) c.550C>A (p.His184Asn) |