UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 11 | g.44265019A>C | CA380181432 | ALX4 | c.1071T>G (p.Ser357Arg) c.549T>G (p.Ser183Arg) | |
| 11 | g.44265019A>G | CA474035251 | ALX4 | c.1071T>C (p.Ser357=) c.549T>C (p.Ser183=) | |
| 11 | g.44265019A>T | CA380181434 | ALX4 | c.1071T>A (p.Ser357Arg) c.549T>A (p.Ser183Arg) | |
| 11 | g.44265020C>A | CA380181435 | ALX4 | c.1070G>T (p.Ser357Ile) c.548G>T (p.Ser183Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265020C= | CA1967914781 | ALX4 | c.1070G= (p.Ser357=) c.548G= (p.Ser183=) | |
| 11 | g.44265020C>G | CA380181437 | ALX4 | c.1070G>C (p.Ser357Thr) c.548G>C (p.Ser183Thr) | |
| 11 | g.44265020C>T | CA380181439 | ALX4 | c.1070G>A (p.Ser357Asn) c.548G>A (p.Ser183Asn) | gnomAD v4 |
| 11 | g.44265021T>A | CA380181444 | ALX4 | c.1069A>T (p.Ser357Cys) c.547A>T (p.Ser183Cys) | |
| 11 | g.44265021T>C | CA5955539 | ALX4 | c.1069A>G (p.Ser357Gly) c.547A>G (p.Ser183Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265021T>G | CA380181441 | ALX4 | c.1069A>C (p.Ser357Arg) c.547A>C (p.Ser183Arg) | |
| 11 | g.44265021T= | CA1967914785 | ALX4 | c.1069A= (p.Ser357=) c.547A= (p.Ser183=) | |
| 11 | g.44265022G>A | CA474035252 | ALX4 | c.1068C>T (p.Gly356=) c.546C>T (p.Gly182=) | |
| 11 | g.44265022G>C | CA474035253 | ALX4 | c.1068C>G (p.Gly356=) c.546C>G (p.Gly182=) | |
| 11 | g.44265022G>T | CA474035255 | ALX4 | c.1068C>A (p.Gly356=) c.546C>A (p.Gly182=) | |
| 11 | g.44265023C>A | CA380181447 | ALX4 | c.1067G>T (p.Gly356Val) c.545G>T (p.Gly182Val) | |
| 11 | g.44265023C>G | CA380181448 | ALX4 | c.1067G>C (p.Gly356Ala) c.545G>C (p.Gly182Ala) | |
| 11 | g.44265023C>T | CA380181449 | ALX4 | c.1067G>A (p.Gly356Asp) c.545G>A (p.Gly182Asp) | |
| 11 | g.44265024C>A | CA380181452 | ALX4 | c.1066G>T (p.Gly356Cys) c.544G>T (p.Gly182Cys) | dbSNP gnomAD v4 |
| 11 | g.44265024C= | CA1967914791 | ALX4 | c.1066G= (p.Gly356=) c.544G= (p.Gly182=) | |
| 11 | g.44265024C>G | CA380181454 | ALX4 | c.1066G>C (p.Gly356Arg) c.544G>C (p.Gly182Arg) | |
| 11 | g.44265024C>T | CA221487583 | ALX4 | c.1066G>A (p.Gly356Ser) c.544G>A (p.Gly182Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44265025A>C | CA474035256 | ALX4 | c.1065T>G (p.Ala355=) c.543T>G (p.Ala181=) | |
| 11 | g.44265025A>G | CA474035259 | ALX4 | c.1065T>C (p.Ala355=) c.543T>C (p.Ala181=) | |
| 11 | g.44265025A>T | CA474035257 | ALX4 | c.1065T>A (p.Ala355=) c.543T>A (p.Ala181=) | |
| 11 | g.44265026G>A | CA380181457 | ALX4 | c.1064C>T (p.Ala355Val) c.542C>T (p.Ala181Val) | dbSNP gnomAD v2 COSMIC |
| 11 | g.44265026G>C | CA380181459 | ALX4 | c.1064C>G (p.Ala355Gly) c.542C>G (p.Ala181Gly) | |
| 11 | g.44265026G= | CA1967914799 | ALX4 | c.1064C= (p.Ala355=) c.542C= (p.Ala181=) | |
| 11 | g.44265026G>T | CA380181461 | ALX4 | c.1064C>A (p.Ala355Asp) c.542C>A (p.Ala181Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265027C>A | CA380181463 | ALX4 | c.1063G>T (p.Ala355Ser) c.541G>T (p.Ala181Ser) | gnomAD v4 |
| 11 | g.44265027C= | CA1967914802 | ALX4 | c.1063G= (p.Ala355=) c.541G= (p.Ala181=) | |
| 11 | g.44265027C>G | CA380181465 | ALX4 | c.1063G>C (p.Ala355Pro) c.541G>C (p.Ala181Pro) | |
| 11 | g.44265027C>T | CA380181466 | ALX4 | c.1063G>A (p.Ala355Thr) c.541G>A (p.Ala181Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44265028C>A | CA474035260 | ALX4 | c.1062G>T (p.Gly354=) c.540G>T (p.Gly180=) | |
| 11 | g.44265028C= | CA1967914809 | ALX4 | c.1062G= (p.Gly354=) c.540G= (p.Gly180=) | |
| 11 | g.44265028C>G | CA474035262 | ALX4 | c.1062G>C (p.Gly354=) c.540G>C (p.Gly180=) | |
| 11 | g.44265028C>T | CA5955540 | ALX4 | c.1062G>A (p.Gly354=) c.540G>A (p.Gly180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265029C>A | CA380181474 | ALX4 | c.1061G>T (p.Gly354Val) c.539G>T (p.Gly180Val) | |
| 11 | g.44265029C>G | CA380181471 | ALX4 | c.1061G>C (p.Gly354Ala) c.539G>C (p.Gly180Ala) | |
| 11 | g.44265029C>T | CA380181473 | ALX4 | c.1061G>A (p.Gly354Glu) c.539G>A (p.Gly180Glu) | |
| 11 | g.44265030C>A | CA380181477 | ALX4 | c.1060G>T (p.Gly354Trp) c.538G>T (p.Gly180Trp) | |
| 11 | g.44265030C= | CA1967914813 | ALX4 | c.1060G= (p.Gly354=) c.538G= (p.Gly180=) | |
| 11 | g.44265030C>G | CA380181479 | ALX4 | c.1060G>C (p.Gly354Arg) c.538G>C (p.Gly180Arg) | |
| 11 | g.44265030C>T | CA380181480 | ALX4 | c.1060G>A (p.Gly354Arg) c.538G>A (p.Gly180Arg) | dbSNP gnomAD v2 |
| 11 | g.44265031A>C | CA474035268 | ALX4 | c.1059T>G (p.Ser353=) c.537T>G (p.Ser179=) | |
| 11 | g.44265031A>G | CA474035267 | ALX4 | c.1059T>C (p.Ser353=) c.537T>C (p.Ser179=) | gnomAD v4 |
| 11 | g.44265031A>T | CA474035265 | ALX4 | c.1059T>A (p.Ser353=) c.537T>A (p.Ser179=) | |
| 11 | g.44265032G>A | CA5955542 | ALX4 | c.1058C>T (p.Ser353Phe) c.536C>T (p.Ser179Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265032G>C | CA380181483 | ALX4 | c.1058C>G (p.Ser353Cys) c.536C>G (p.Ser179Cys) | |
| 11 | g.44265032G= | CA1967914818 | ALX4 | c.1058C= (p.Ser353=) c.536C= (p.Ser179=) | |
| 11 | g.44265032G>T | CA380181485 | ALX4 | c.1058C>A (p.Ser353Tyr) c.536C>A (p.Ser179Tyr) | |
| 11 | g.44265032_44265035delinsGACA | CA1967914820 | ALX4 | c.1055_1058delinsTGTC (p.Val352=) c.533_536delinsTGTC (p.Val178=) | |
| 11 | g.44265033A= | CA1967914824 | ALX4 | c.1057T= (p.Ser353=) c.535T= (p.Ser179=) | |
| 11 | g.44265033A>C | CA380181488 | ALX4 | c.1057T>G (p.Ser353Ala) c.535T>G (p.Ser179Ala) | |
| 11 | g.44265033A>G | CA380181489 | ALX4 | c.1057T>C (p.Ser353Pro) c.535T>C (p.Ser179Pro) | |
| 11 | g.44265033A>T | CA380181491 | ALX4 | c.1057T>A (p.Ser353Thr) c.535T>A (p.Ser179Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44265033_44265035del | CA5955541 | ALX4 | c.1055_1057del (p.Val352_Ser353delinsAla) c.533_535del (p.Val178_Ser179delinsAla) | dbSNP ExAC gnomAD v2 |
| 11 | g.44265034C>A | CA474035270 | ALX4 | c.1056G>T (p.Val352=) c.534G>T (p.Val178=) | |
| 11 | g.44265034C= | CA1967914828 | ALX4 | c.1056G= (p.Val352=) c.534G= (p.Val178=) | |
| 11 | g.44265034C>G | CA221487600 | ALX4 | c.1056G>C (p.Val352=) c.534G>C (p.Val178=) | dbSNP |
| 11 | g.44265034C>T | CA5955543 | ALX4 | c.1056G>A (p.Val352=) c.534G>A (p.Val178=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265035A= | CA1967914832 | ALX4 | c.1055T= (p.Val352=) c.533T= (p.Val178=) | |
| 11 | g.44265035A>C | CA380181496 | ALX4 | c.1055T>G (p.Val352Gly) c.533T>G (p.Val178Gly) | |
| 11 | g.44265035A>G | CA380181500 | ALX4 | c.1055T>C (p.Val352Ala) c.533T>C (p.Val178Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44265035A>T | CA380181498 | ALX4 | c.1055T>A (p.Val352Glu) c.533T>A (p.Val178Glu) | |
| 11 | g.44265036C>A | CA380181502 | ALX4 | c.1054G>T (p.Val352Leu) c.532G>T (p.Val178Leu) | |
| 11 | g.44265036C>G | CA380181506 | ALX4 | c.1054G>C (p.Val352Leu) c.532G>C (p.Val178Leu) | |
| 11 | g.44265036C>T | CA380181505 | ALX4 | c.1054G>A (p.Val352Met) c.532G>A (p.Val178Met) | gnomAD v4 |
| 11 | g.44265038_44265041del | CA2613210119 | ALX4 | c.1051_1054del (p.Ser351CysfsTer?) c.529_532del (p.Ser177CysfsTer?) | gnomAD v4 |
| 11 | g.44265037A= | CA1967914836 | ALX4 | c.1053T= (p.Ser351=) c.531T= (p.Ser177=) | |
| 11 | g.44265037A>C | CA380181509 | ALX4 | c.1053T>G (p.Ser351Arg) c.531T>G (p.Ser177Arg) | |
| 11 | g.44265037A>G | CA474035273 | ALX4 | c.1053T>C (p.Ser351=) c.531T>C (p.Ser177=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44265037A>T | CA380181510 | ALX4 | c.1053T>A (p.Ser351Arg) c.531T>A (p.Ser177Arg) | |
| 11 | g.44265038C>A | CA5955544 | ALX4 | c.1052G>T (p.Ser351Ile) c.530G>T (p.Ser177Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265038C= | CA1967914840 | ALX4 | c.1052G= (p.Ser351=) c.530G= (p.Ser177=) | |
| 11 | g.44265038C>G | CA380181516 | ALX4 | c.1052G>C (p.Ser351Thr) c.530G>C (p.Ser177Thr) | |
| 11 | g.44265038C>T | CA380181514 | ALX4 | c.1052G>A (p.Ser351Asn) c.530G>A (p.Ser177Asn) | |
| 11 | g.44265039T>A | CA380181519 | ALX4 | c.1051A>T (p.Ser351Cys) c.529A>T (p.Ser177Cys) | gnomAD v4 |
| 11 | g.44265039T>C | CA380181523 | ALX4 | c.1051A>G (p.Ser351Gly) c.529A>G (p.Ser177Gly) | |
| 11 | g.44265039T>G | CA380181520 | ALX4 | c.1051A>C (p.Ser351Arg) c.529A>C (p.Ser177Arg) | |
| 11 | g.44265040C>A | CA474035276 | ALX4 | c.1050G>T (p.Leu350=) c.528G>T (p.Leu176=) | |
| 11 | g.44265040C= | CA1967914843 | ALX4 | c.1050G= (p.Leu350=) c.528G= (p.Leu176=) | |
| 11 | g.44265040C>G | CA474035275 | ALX4 | c.1050G>C (p.Leu350=) c.528G>C (p.Leu176=) | |
| 11 | g.44265040C>T | CA221487626 | ALX4 | c.1050G>A (p.Leu350=) c.528G>A (p.Leu176=) | dbSNP gnomAD v4 |
| 11 | g.44265041A>C | CA380181524 | ALX4 | c.1049T>G (p.Leu350Arg) c.527T>G (p.Leu176Arg) | |
| 11 | g.44265041A>G | CA380181528 | ALX4 | c.1049T>C (p.Leu350Pro) c.527T>C (p.Leu176Pro) | |
| 11 | g.44265041A>T | CA380181526 | ALX4 | c.1049T>A (p.Leu350Gln) c.527T>A (p.Leu176Gln) | |
| 11 | g.44265042G>A | CA474035280 | ALX4 | c.1048C>T (p.Leu350=) c.526C>T (p.Leu176=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44265042G>C | CA380181530 | ALX4 | c.1048C>G (p.Leu350Val) c.526C>G (p.Leu176Val) | |
| 11 | g.44265042G= | CA1967914848 | ALX4 | c.1048C= (p.Leu350=) c.526C= (p.Leu176=) | |
| 11 | g.44265042G>T | CA380181531 | ALX4 | c.1048C>A (p.Leu350Met) c.526C>A (p.Leu176Met) | |
| 11 | g.44265043G>A | CA474035281 | ALX4 | c.1047C>T (p.Phe349=) c.525C>T (p.Phe175=) | |
| 11 | g.44265043G>C | CA380181532 | ALX4 | c.1047C>G (p.Phe349Leu) c.525C>G (p.Phe175Leu) | |
| 11 | g.44265043G>T | CA380181533 | ALX4 | c.1047C>A (p.Phe349Leu) c.525C>A (p.Phe175Leu) | |
| 11 | g.44265044A>C | CA380181534 | ALX4 | c.1046T>G (p.Phe349Cys) c.524T>G (p.Phe175Cys) | |
| 11 | g.44265044A>G | CA380181535 | ALX4 | c.1046T>C (p.Phe349Ser) c.524T>C (p.Phe175Ser) | |
| 11 | g.44265044A>T | CA380181536 | ALX4 | c.1046T>A (p.Phe349Tyr) c.524T>A (p.Phe175Tyr) | |
| 11 | g.44265044_44265045insT | CA2613210120 | ALX4 | c.1045_1046insA (p.Phe349TyrfsTer?) c.523_524insA (p.Phe175TyrfsTer?) | gnomAD v4 |
| 11 | g.44265045A>C | CA380181537 | ALX4 | c.1045T>G (p.Phe349Val) c.523T>G (p.Phe175Val) | |
| 11 | g.44265045A>G | CA380181538 | ALX4 | c.1045T>C (p.Phe349Leu) c.523T>C (p.Phe175Leu) | |
| 11 | g.44265045A>T | CA380181539 | ALX4 | c.1045T>A (p.Phe349Ile) c.523T>A (p.Phe175Ile) | |
| 11 | g.44265046G>A | CA474035283 | ALX4 | c.1044C>T (p.Asp348=) c.522C>T (p.Asp174=) | |
| 11 | g.44265046G>C | CA380181540 | ALX4 | c.1044C>G (p.Asp348Glu) c.522C>G (p.Asp174Glu) | |
| 11 | g.44265046G>T | CA380181541 | ALX4 | c.1044C>A (p.Asp348Glu) c.522C>A (p.Asp174Glu) | |
| 11 | g.44265046dup | CA2613210121 | ALX4 | c.1044dup (p.Phe349LeufsTer?) c.522dup (p.Phe175LeufsTer?) | gnomAD v4 |
| 11 | g.44265047T>A | CA380181542 | ALX4 | c.1043A>T (p.Asp348Val) c.521A>T (p.Asp174Val) | dbSNP |
| 11 | g.44265047T>C | CA380181543 | ALX4 | c.1043A>G (p.Asp348Gly) c.521A>G (p.Asp174Gly) | |
| 11 | g.44265047T>G | CA380181544 | ALX4 | c.1043A>C (p.Asp348Ala) c.521A>C (p.Asp174Ala) | |
| 11 | g.44265047T= | CA1967914855 | ALX4 | c.1043A= (p.Asp348=) c.521A= (p.Asp174=) | |
| 11 | g.44265048C>A | CA380181546 | ALX4 | c.1042G>T (p.Asp348Tyr) c.520G>T (p.Asp174Tyr) | |
| 11 | g.44265048C= | CA1967914858 | ALX4 | c.1042G= (p.Asp348=) c.520G= (p.Asp174=) | |
| 11 | g.44265048C>G | CA380181545 | ALX4 | c.1042G>C (p.Asp348His) c.520G>C (p.Asp174His) | |
| 11 | g.44265048C>T | CA5955545 | ALX4 | c.1042G>A (p.Asp348Asn) c.520G>A (p.Asp174Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265049G>A | CA5955546 | ALX4 | c.1041C>T (p.Thr347=) c.519C>T (p.Thr173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265049G>C | CA474035286 | ALX4 | c.1041C>G (p.Thr347=) c.519C>G (p.Thr173=) | |
| 11 | g.44265049G= | CA1967914862 | ALX4 | c.1041C= (p.Thr347=) c.519C= (p.Thr173=) | |
| 11 | g.44265049G>T | CA474035288 | ALX4 | c.1041C>A (p.Thr347=) c.519C>A (p.Thr173=) | |
| 11 | g.44265050G>A | CA380181547 | ALX4 | c.1040C>T (p.Thr347Ile) c.518C>T (p.Thr173Ile) | |
| 11 | g.44265050G>C | CA380181548 | ALX4 | c.1040C>G (p.Thr347Ser) c.518C>G (p.Thr173Ser) | gnomAD v4 |
| 11 | g.44265050G>T | CA380181549 | ALX4 | c.1040C>A (p.Thr347Asn) c.518C>A (p.Thr173Asn) | |
| 11 | g.44265051T>A | CA380181550 | ALX4 | c.1039A>T (p.Thr347Ser) c.517A>T (p.Thr173Ser) | |
| 11 | g.44265051T>C | CA380181551 | ALX4 | c.1039A>G (p.Thr347Ala) c.517A>G (p.Thr173Ala) | |
| 11 | g.44265051T>G | CA380181552 | ALX4 | c.1039A>C (p.Thr347Pro) c.517A>C (p.Thr173Pro) | |
| 11 | g.44265053_44265061del | CA2791248859 | ALX4 | c.1031_1039del (p.Ser344_Val346del) c.509_517del (p.Ser170_Val172del) | |
| 11 | g.44265052G>A | CA474035292 | ALX4 | c.1038C>T (p.Val346=) c.516C>T (p.Val172=) | |
| 11 | g.44265052G>C | CA474035294 | ALX4 | c.1038C>G (p.Val346=) c.516C>G (p.Val172=) | |
| 11 | g.44265052G>T | CA474035295 | ALX4 | c.1038C>A (p.Val346=) c.516C>A (p.Val172=) | |
| 11 | g.44265053A>C | CA380181553 | ALX4 | c.1037T>G (p.Val346Gly) c.515T>G (p.Val172Gly) | |
| 11 | g.44265053A>G | CA380181554 | ALX4 | c.1037T>C (p.Val346Ala) c.515T>C (p.Val172Ala) | |
| 11 | g.44265053A>T | CA380181555 | ALX4 | c.1037T>A (p.Val346Asp) c.515T>A (p.Val172Asp) | |
| 11 | g.44265054C>A | CA380181556 | ALX4 | c.1036G>T (p.Val346Phe) c.514G>T (p.Val172Phe) | |
| 11 | g.44265054C= | CA1967914869 | ALX4 | c.1036G= (p.Val346=) c.514G= (p.Val172=) | |
| 11 | g.44265054C>G | CA380181557 | ALX4 | c.1036G>C (p.Val346Leu) c.514G>C (p.Val172Leu) | |
| 11 | g.44265054C>T | CA5955547 | ALX4 | c.1036G>A (p.Val346Ile) c.514G>A (p.Val172Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265055G>A | CA5955548 | ALX4 | c.1035C>T (p.Ser345=) c.513C>T (p.Ser171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265055G>C | CA380181558 | ALX4 | c.1035C>G (p.Ser345Arg) c.513C>G (p.Ser171Arg) | |
| 11 | g.44265055G= | CA1967914875 | ALX4 | c.1035C= (p.Ser345=) c.513C= (p.Ser171=) | |
| 11 | g.44265055G>T | CA5955549 | ALX4 | c.1035C>A (p.Ser345Arg) c.513C>A (p.Ser171Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265056C>A | CA380181559 | ALX4 | c.1034G>T (p.Ser345Ile) c.512G>T (p.Ser171Ile) | |
| 11 | g.44265056C= | CA1967914882 | ALX4 | c.1034G= (p.Ser345=) c.512G= (p.Ser171=) | |
| 11 | g.44265056C>G | CA380181560 | ALX4 | c.1034G>C (p.Ser345Thr) c.512G>C (p.Ser171Thr) | |
| 11 | g.44265056C>T | CA5955550 | ALX4 | c.1034G>A (p.Ser345Asn) c.512G>A (p.Ser171Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265057T>A | CA380181561 | ALX4 | c.1033A>T (p.Ser345Cys) c.511A>T (p.Ser171Cys) | |
| 11 | g.44265057T>C | CA380181562 | ALX4 | c.1033A>G (p.Ser345Gly) c.511A>G (p.Ser171Gly) | |
| 11 | g.44265057T>G | CA380181563 | ALX4 | c.1033A>C (p.Ser345Arg) c.511A>C (p.Ser171Arg) | |
| 11 | g.44265058G>A | CA474035300 | ALX4 | c.1032C>T (p.Ser344=) c.510C>T (p.Ser170=) | |
| 11 | g.44265058G>C | CA380181564 | ALX4 | c.1032C>G (p.Ser344Arg) c.510C>G (p.Ser170Arg) | |
| 11 | g.44265058G>T | CA380181565 | ALX4 | c.1032C>A (p.Ser344Arg) c.510C>A (p.Ser170Arg) | |
| 11 | g.44265059C>A | CA380181566 | ALX4 | c.1031G>T (p.Ser344Ile) c.509G>T (p.Ser170Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265059C= | CA1967914886 | ALX4 | c.1031G= (p.Ser344=) c.509G= (p.Ser170=) | |
| 11 | g.44265059C>G | CA380181567 | ALX4 | c.1031G>C (p.Ser344Thr) c.509G>C (p.Ser170Thr) | |
| 11 | g.44265059C>T | CA380181568 | ALX4 | c.1031G>A (p.Ser344Asn) c.509G>A (p.Ser170Asn) | |
| 11 | g.44265060T>A | CA380181571 | ALX4 | c.1030A>T (p.Ser344Cys) c.508A>T (p.Ser170Cys) | |
| 11 | g.44265060T>C | CA380181570 | ALX4 | c.1030A>G (p.Ser344Gly) c.508A>G (p.Ser170Gly) | |
| 11 | g.44265060T>G | CA380181569 | ALX4 | c.1030A>C (p.Ser344Arg) c.508A>C (p.Ser170Arg) | |
| 11 | g.44265061G>A | CA474035303 | ALX4 | c.1029C>T (p.Ala343=) c.507C>T (p.Ala169=) | dbSNP gnomAD v2 |
| 11 | g.44265061G>C | CA474035302 | ALX4 | c.1029C>G (p.Ala343=) c.507C>G (p.Ala169=) | |
| 11 | g.44265061G= | CA1967914888 | ALX4 | c.1029C= (p.Ala343=) c.507C= (p.Ala169=) | |
| 11 | g.44265061G>T | CA474035301 | ALX4 | c.1029C>A (p.Ala343=) c.507C>A (p.Ala169=) | |
| 11 | g.44265062G>A | CA380181572 | ALX4 | c.1028C>T (p.Ala343Val) c.506C>T (p.Ala169Val) | COSMIC |
| 11 | g.44265062G>C | CA380181573 | ALX4 | c.1028C>G (p.Ala343Gly) c.506C>G (p.Ala169Gly) | |
| 11 | g.44265062G>T | CA380181574 | ALX4 | c.1028C>A (p.Ala343Asp) c.506C>A (p.Ala169Asp) | |
| 11 | g.44265063C>A | CA380181575 | ALX4 | c.1027G>T (p.Ala343Ser) c.505G>T (p.Ala169Ser) | gnomAD v4 |
| 11 | g.44265063C= | CA1967914894 | ALX4 | c.1027G= (p.Ala343=) c.505G= (p.Ala169=) | |
| 11 | g.44265063C>G | CA380181576 | ALX4 | c.1027G>C (p.Ala343Pro) c.505G>C (p.Ala169Pro) | |
| 11 | g.44265063C>T | CA380181577 | ALX4 | c.1027G>A (p.Ala343Thr) c.505G>A (p.Ala169Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265064C>A | CA474035304 | ALX4 | c.1026G>T (p.Gly342=) c.504G>T (p.Gly168=) | |
| 11 | g.44265064C= | CA1967914899 | ALX4 | c.1026G= (p.Gly342=) c.504G= (p.Gly168=) | |
| 11 | g.44265064C>G | CA474035305 | ALX4 | c.1026G>C (p.Gly342=) c.504G>C (p.Gly168=) | COSMIC |
| 11 | g.44265064C>T | CA474035306 | ALX4 | c.1026G>A (p.Gly342=) c.504G>A (p.Gly168=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44265065C>A | CA380181578 | ALX4 | c.1025G>T (p.Gly342Val) c.503G>T (p.Gly168Val) | |
| 11 | g.44265065C>G | CA380181579 | ALX4 | c.1025G>C (p.Gly342Ala) c.503G>C (p.Gly168Ala) | COSMIC |
| 11 | g.44265065C>T | CA380181580 | ALX4 | c.1025G>A (p.Gly342Glu) c.503G>A (p.Gly168Glu) | gnomAD v4 |
| 11 | g.44265065_44265067delinsCCA | CA1967914903 | ALX4 | c.1023_1025delinsTGG (p.Ser341=) c.501_503delinsTGG (p.Ser167=) | |
| 11 | g.44265066C>A | CA380181581 | ALX4 | c.1024G>T (p.Gly342Trp) c.502G>T (p.Gly168Trp) | |
| 11 | g.44265066C>G | CA380181582 | ALX4 | c.1024G>C (p.Gly342Arg) c.502G>C (p.Gly168Arg) | |
| 11 | g.44265066C>T | CA380181583 | ALX4 | c.1024G>A (p.Gly342Arg) c.502G>A (p.Gly168Arg) | gnomAD v4 |
| 11 | g.44265066_44265067del | CA599370271 | ALX4 | c.1023_1024del (p.Ala343GlnfsTer?) c.501_502del (p.Ala169GlnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44265067A>C | CA474035310 | ALX4 | c.1023T>G (p.Ser341=) c.501T>G (p.Ser167=) | |
| 11 | g.44265067A>G | CA474035312 | ALX4 | c.1023T>C (p.Ser341=) c.501T>C (p.Ser167=) | |
| 11 | g.44265067A>T | CA474035311 | ALX4 | c.1023T>A (p.Ser341=) c.501T>A (p.Ser167=) | |
| 11 | g.44265068G>A | CA380181586 | ALX4 | c.1022C>T (p.Ser341Phe) c.500C>T (p.Ser167Phe) | |
| 11 | g.44265068G>C | CA380181585 | ALX4 | c.1022C>G (p.Ser341Cys) c.500C>G (p.Ser167Cys) | |
| 11 | g.44265068G>T | CA380181584 | ALX4 | c.1022C>A (p.Ser341Tyr) c.500C>A (p.Ser167Tyr) | |
| 11 | g.44265069A>C | CA380181587 | ALX4 | c.1021T>G (p.Ser341Ala) c.499T>G (p.Ser167Ala) | |
| 11 | g.44265069A>G | CA380181588 | ALX4 | c.1021T>C (p.Ser341Pro) c.499T>C (p.Ser167Pro) | gnomAD v4 |
| 11 | g.44265069A>T | CA380181589 | ALX4 | c.1021T>A (p.Ser341Thr) c.499T>A (p.Ser167Thr) | |
| 11 | g.44265070G>A | CA474035316 | ALX4 | c.1020C>T (p.Gly340=) c.498C>T (p.Gly166=) | |
| 11 | g.44265070G>C | CA474035317 | ALX4 | c.1020C>G (p.Gly340=) c.498C>G (p.Gly166=) | |
| 11 | g.44265070G>T | CA474035318 | ALX4 | c.1020C>A (p.Gly340=) c.498C>A (p.Gly166=) | gnomAD v4 |
| 11 | g.44265071C>A | CA380181590 | ALX4 | c.1019G>T (p.Gly340Val) c.497G>T (p.Gly166Val) | gnomAD v4 |
| 11 | g.44265071C>G | CA380181591 | ALX4 | c.1019G>C (p.Gly340Ala) c.497G>C (p.Gly166Ala) | |
| 11 | g.44265071C>T | CA380181592 | ALX4 | c.1019G>A (p.Gly340Asp) c.497G>A (p.Gly166Asp) | |
| 11 | g.44265072C>A | CA380181595 | ALX4 | c.1018G>T (p.Gly340Cys) c.496G>T (p.Gly166Cys) | |
| 11 | g.44265072C>G | CA380181594 | ALX4 | c.1018G>C (p.Gly340Arg) c.496G>C (p.Gly166Arg) | |
| 11 | g.44265072C>T | CA380181593 | ALX4 | c.1018G>A (p.Gly340Ser) c.496G>A (p.Gly166Ser) | |
| 11 | g.44265072_44265073delinsCA | CA1967914911 | ALX4 | c.1017_1018delinsTG (p.Pro339=) c.495_496delinsTG (p.Pro165=) | |
| 11 | g.44265072_44265073insG | CA645590268 | ALX4 | c.1017_1018insC (p.Gly340ArgfsTer?) c.495_496insC (p.Gly166ArgfsTer?) | COSMIC |
| 11 | g.44265073del | CA676755965 | ALX4 | c.1017del (p.Gly340AlafsTer11) c.495del (p.Gly166AlafsTer11) | ClinVar dbSNP gnomAD v4 |
| 11 | g.44265073A>C | CA474035320 | ALX4 | c.1017T>G (p.Pro339=) c.495T>G (p.Pro165=) | |
| 11 | g.44265073A>G | CA474035321 | ALX4 | c.1017T>C (p.Pro339=) c.495T>C (p.Pro165=) | |
| 11 | g.44265073A>T | CA474035322 | ALX4 | c.1017T>A (p.Pro339=) c.495T>A (p.Pro165=) | |
| 11 | g.44265073_44265074delinsAG | CA1967914917 | ALX4 | c.1016_1017delinsCT (p.Pro339=) c.494_495delinsCT (p.Pro165=) | |
| 11 | g.44265074G>A | CA380181596 | ALX4 | c.1016C>T (p.Pro339Leu) c.494C>T (p.Pro165Leu) | |
| 11 | g.44265074G>C | CA380181597 | ALX4 | c.1016C>G (p.Pro339Arg) c.494C>G (p.Pro165Arg) | |
| 11 | g.44265074G>T | CA380181598 | ALX4 | c.1016C>A (p.Pro339His) c.494C>A (p.Pro165His) | |
| 11 | g.44265079dup | CA2613210122 | ALX4 | c.1016dup (p.Gly340TrpfsTer?) c.494dup (p.Gly166TrpfsTer?) | gnomAD v4 |
| 11 | g.44265079del | CA474035323 | ALX4 | c.1016del (p.Pro339LeufsTer12) c.494del (p.Pro165LeufsTer12) | dbSNP gnomAD v4 COSMIC |
| 11 | g.44265075G>A | CA5955551 | ALX4 | c.1015C>T (p.Pro339Ser) c.493C>T (p.Pro165Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265075G>C | CA5955552 | ALX4 | c.1015C>G (p.Pro339Ala) c.493C>G (p.Pro165Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265075G= | CA1967914928 | ALX4 | c.1015C= (p.Pro339=) c.493C= (p.Pro165=) | |
| 11 | g.44265075G>T | CA5955553 | ALX4 | c.1015C>A (p.Pro339Thr) c.493C>A (p.Pro165Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265076G>A | CA474035324 | ALX4 | c.1014C>T (p.Pro338=) c.492C>T (p.Pro164=) | gnomAD v4 |
| 11 | g.44265076G>C | CA474035326 | ALX4 | c.1014C>G (p.Pro338=) c.492C>G (p.Pro164=) | |
| 11 | g.44265076G>T | CA474035327 | ALX4 | c.1014C>A (p.Pro338=) c.492C>A (p.Pro164=) | |
| 11 | g.44265077G>A | CA380181599 | ALX4 | c.1013C>T (p.Pro338Leu) c.491C>T (p.Pro164Leu) | gnomAD v4 COSMIC |
| 11 | g.44265077G>C | CA5955554 | ALX4 | c.1013C>G (p.Pro338Arg) c.491C>G (p.Pro164Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265077G= | CA1967914934 | ALX4 | c.1013C= (p.Pro338=) c.491C= (p.Pro164=) | |
| 11 | g.44265077G>T | CA380181600 | ALX4 | c.1013C>A (p.Pro338His) c.491C>A (p.Pro164His) | |
| 11 | g.44265078G>A | CA380181601 | ALX4 | c.1012C>T (p.Pro338Ser) c.490C>T (p.Pro164Ser) | gnomAD v4 |
| 11 | g.44265078G>C | CA380181602 | ALX4 | c.1012C>G (p.Pro338Ala) c.490C>G (p.Pro164Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44265078G= | CA1967914939 | ALX4 | c.1012C= (p.Pro338=) c.490C= (p.Pro164=) | |
| 11 | g.44265078G>T | CA5955555 | ALX4 | c.1012C>A (p.Pro338Thr) c.490C>A (p.Pro164Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265079G>A | CA474035330 | ALX4 | c.1011C>T (p.His337=) c.489C>T (p.His163=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44265079G>C | CA380181603 | ALX4 | c.1011C>G (p.His337Gln) c.489C>G (p.His163Gln) | |
| 11 | g.44265079G= | CA1967914941 | ALX4 | c.1011C= (p.His337=) c.489C= (p.His163=) | |
| 11 | g.44265079G>T | CA5955556 | ALX4 | c.1011C>A (p.His337Gln) c.489C>A (p.His163Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265080T>A | CA380181604 | ALX4 | c.1010A>T (p.His337Leu) c.488A>T (p.His163Leu) | |
| 11 | g.44265080T>C | CA380181605 | ALX4 | c.1010A>G (p.His337Arg) c.488A>G (p.His163Arg) | |
| 11 | g.44265080T>G | CA380181606 | ALX4 | c.1010A>C (p.His337Pro) c.488A>C (p.His163Pro) | dbSNP |
| 11 | g.44265080T= | CA1967914944 | ALX4 | c.1010A= (p.His337=) c.488A= (p.His163=) | |
| 11 | g.44265081G>A | CA380181607 | ALX4 | c.1009C>T (p.His337Tyr) c.487C>T (p.His163Tyr) | dbSNP COSMIC |
| 11 | g.44265081G>C | CA380181608 | ALX4 | c.1009C>G (p.His337Asp) c.487C>G (p.His163Asp) | dbSNP |
| 11 | g.44265081G= | CA1967914946 | ALX4 | c.1009C= (p.His337=) c.487C= (p.His163=) | |
| 11 | g.44265081G>T | CA380181609 | ALX4 | c.1009C>A (p.His337Asn) c.487C>A (p.His163Asn) | |
| 11 | g.44265082G>A | CA474035333 | ALX4 | c.1008C>T (p.Ala336=) c.486C>T (p.Ala162=) | gnomAD v4 |
| 11 | g.44265082G>C | CA474035335 | ALX4 | c.1008C>G (p.Ala336=) c.486C>G (p.Ala162=) | |
| 11 | g.44265082G>T | CA474035337 | ALX4 | c.1008C>A (p.Ala336=) c.486C>A (p.Ala162=) | |
| 11 | g.44265083G>A | CA380181610 | ALX4 | c.1007C>T (p.Ala336Val) c.485C>T (p.Ala162Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44265083G>C | CA380181612 | ALX4 | c.1007C>G (p.Ala336Gly) c.485C>G (p.Ala162Gly) | |
| 11 | g.44265083G= | CA1967914951 | ALX4 | c.1007C= (p.Ala336=) c.485C= (p.Ala162=) | |
| 11 | g.44265083G>T | CA380181611 | ALX4 | c.1007C>A (p.Ala336Asp) c.485C>A (p.Ala162Asp) | |
| 11 | g.44265084C>A | CA380181613 | ALX4 | c.1006G>T (p.Ala336Ser) c.484G>T (p.Ala162Ser) | |
| 11 | g.44265084C>G | CA380181614 | ALX4 | c.1006G>C (p.Ala336Pro) c.484G>C (p.Ala162Pro) | |
| 11 | g.44265084C>T | CA380181615 | ALX4 | c.1006G>A (p.Ala336Thr) c.484G>A (p.Ala162Thr) | |
| 11 | g.44265085A>C | CA380181616 | ALX4 | c.1005T>G (p.His335Gln) c.483T>G (p.His161Gln) | |
| 11 | g.44265085A>G | CA474035338 | ALX4 | c.1005T>C (p.His335=) c.483T>C (p.His161=) | |
| 11 | g.44265085A>T | CA380181617 | ALX4 | c.1005T>A (p.His335Gln) c.483T>A (p.His161Gln) | |
| 11 | g.44265086T>A | CA380181618 | ALX4 | c.1004A>T (p.His335Leu) c.482A>T (p.His161Leu) | |
| 11 | g.44265086T>C | CA380181619 | ALX4 | c.1004A>G (p.His335Arg) c.482A>G (p.His161Arg) | gnomAD v4 |
| 11 | g.44265086T>G | CA380181620 | ALX4 | c.1004A>C (p.His335Pro) c.482A>C (p.His161Pro) | |
| 11 | g.44265087G>A | CA380181621 | ALX4 | c.1003C>T (p.His335Tyr) c.481C>T (p.His161Tyr) | |
| 11 | g.44265087G>C | CA380181622 | ALX4 | c.1003C>G (p.His335Asp) c.481C>G (p.His161Asp) | |
| 11 | g.44265087G>T | CA380181623 | ALX4 | c.1003C>A (p.His335Asn) c.481C>A (p.His161Asn) | |
| 11 | g.44265088A>C | CA474035343 | ALX4 | c.1002T>G (p.Pro334=) c.480T>G (p.Pro160=) | |
| 11 | g.44265088A>G | CA474035342 | ALX4 | c.1002T>C (p.Pro334=) c.480T>C (p.Pro160=) | |
| 11 | g.44265088A>T | CA474035340 | ALX4 | c.1002T>A (p.Pro334=) c.480T>A (p.Pro160=) | |
| 11 | g.44265089G>A | CA5955557 | ALX4 | c.1001C>T (p.Pro334Leu) c.479C>T (p.Pro160Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265089G>C | CA380181625 | ALX4 | c.1001C>G (p.Pro334Arg) c.479C>G (p.Pro160Arg) | gnomAD v4 |
| 11 | g.44265089G= | CA1967914957 | ALX4 | c.1001C= (p.Pro334=) c.479C= (p.Pro160=) | |
| 11 | g.44265089G>T | CA380181624 | ALX4 | c.1001C>A (p.Pro334His) c.479C>A (p.Pro160His) | |
| 11 | g.44265090G>A | CA380181626 | ALX4 | c.1000C>T (p.Pro334Ser) c.478C>T (p.Pro160Ser) | gnomAD v4 |
| 11 | g.44265090G>C | CA380181627 | ALX4 | c.1000C>G (p.Pro334Ala) c.478C>G (p.Pro160Ala) | |
| 11 | g.44265090G>T | CA380181628 | ALX4 | c.1000C>A (p.Pro334Thr) c.478C>A (p.Pro160Thr) | |
| 11 | g.44265091G>A | CA474035344 | ALX4 | c.999C>T (p.Ser333=) c.477C>T (p.Ser159=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44265091G>C | CA474035345 | ALX4 | c.999C>G (p.Ser333=) c.477C>G (p.Ser159=) | |
| 11 | g.44265091G= | CA1967914960 | ALX4 | c.999C= (p.Ser333=) c.477C= (p.Ser159=) | |
| 11 | g.44265091G>T | CA474035346 | ALX4 | c.999C>A (p.Ser333=) c.477C>A (p.Ser159=) | |
| 11 | g.44265092G>A | CA380181629 | ALX4 | c.998C>T (p.Ser333Phe) c.476C>T (p.Ser159Phe) | dbSNP gnomAD v4 COSMIC |
| 11 | g.44265092G>C | CA380181630 | ALX4 | c.998C>G (p.Ser333Cys) c.476C>G (p.Ser159Cys) | |
| 11 | g.44265092G= | CA1967914965 | ALX4 | c.998C= (p.Ser333=) c.476C= (p.Ser159=) | |
| 11 | g.44265092G>T | CA380181631 | ALX4 | c.998C>A (p.Ser333Tyr) c.476C>A (p.Ser159Tyr) | |
| 11 | g.44265093A>C | CA380181632 | ALX4 | c.997T>G (p.Ser333Ala) c.475T>G (p.Ser159Ala) | |
| 11 | g.44265093A>G | CA380181633 | ALX4 | c.997T>C (p.Ser333Pro) c.475T>C (p.Ser159Pro) | |
| 11 | g.44265093A>T | CA380181634 | ALX4 | c.997T>A (p.Ser333Thr) c.475T>A (p.Ser159Thr) | gnomAD v4 |
| 11 | g.44265094C>A | CA380181635 | ALX4 | c.996G>T (p.Met332Ile) c.474G>T (p.Met158Ile) | |
| 11 | g.44265094C>G | CA380181636 | ALX4 | c.996G>C (p.Met332Ile) c.474G>C (p.Met158Ile) | |
| 11 | g.44265094C>T | CA380181637 | ALX4 | c.996G>A (p.Met332Ile) c.474G>A (p.Met158Ile) | |
| 11 | g.44265096_44265125del | CA2613210123 | ALX4 | c.967_996del (p.Val323_Met332del) c.445_474del (p.Val149_Met158del) | gnomAD v4 |
| 11 | g.44265095A= | CA1967914966 | ALX4 | c.995T= (p.Met332=) c.473T= (p.Met158=) | |
| 11 | g.44265095A>C | CA380181640 | ALX4 | c.995T>G (p.Met332Arg) c.473T>G (p.Met158Arg) | |
| 11 | g.44265095A>G | CA380181639 | ALX4 | c.995T>C (p.Met332Thr) c.473T>C (p.Met158Thr) | |
| 11 | g.44265095A>T | CA380181638 | ALX4 | c.995T>A (p.Met332Lys) c.473T>A (p.Met158Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44265096T>A | CA380181641 | ALX4 | c.994A>T (p.Met332Leu) c.472A>T (p.Met158Leu) | |
| 11 | g.44265096T>C | CA380181643 | ALX4 | c.994A>G (p.Met332Val) c.472A>G (p.Met158Val) | gnomAD v4 |
| 11 | g.44265096T>G | CA380181642 | ALX4 | c.994A>C (p.Met332Leu) c.472A>C (p.Met158Leu) | ClinVar dbSNP |
| 11 | g.44265096T= | CA1967914968 | ALX4 | c.994A= (p.Met332=) c.472A= (p.Met158=) | |
| 11 | g.44265097G>A | CA474035352 | ALX4 | c.993C>T (p.Cys331=) c.471C>T (p.Cys157=) | |
| 11 | g.44265097G>C | CA380181644 | ALX4 | c.993C>G (p.Cys331Trp) c.471C>G (p.Cys157Trp) | |
| 11 | g.44265097G>T | CA380181645 | ALX4 | c.993C>A (p.Cys331Ter) c.471C>A (p.Cys157Ter) | |
| 11 | g.44265098C>A | CA380181646 | ALX4 | c.992G>T (p.Cys331Phe) c.470G>T (p.Cys157Phe) | |
| 11 | g.44265098C= | CA1967914973 | ALX4 | c.992G= (p.Cys331=) c.470G= (p.Cys157=) | |
| 11 | g.44265098C>G | CA380181647 | ALX4 | c.992G>C (p.Cys331Ser) c.470G>C (p.Cys157Ser) | gnomAD v4 |
| 11 | g.44265098C>T | CA221487727 | ALX4 | c.992G>A (p.Cys331Tyr) c.470G>A (p.Cys157Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265099A>C | CA380181648 | ALX4 | c.991T>G (p.Cys331Gly) c.469T>G (p.Cys157Gly) | |
| 11 | g.44265099A>G | CA380181649 | ALX4 | c.991T>C (p.Cys331Arg) c.469T>C (p.Cys157Arg) | |
| 11 | g.44265099A>T | CA380181650 | ALX4 | c.991T>A (p.Cys331Ser) c.469T>A (p.Cys157Ser) | |
| 11 | g.44265100G>A | CA474035356 | ALX4 | c.990C>T (p.Ala330=) c.468C>T (p.Ala156=) | |
| 11 | g.44265100G>C | CA474035358 | ALX4 | c.990C>G (p.Ala330=) c.468C>G (p.Ala156=) | |
| 11 | g.44265100G>T | CA474035360 | ALX4 | c.990C>A (p.Ala330=) c.468C>A (p.Ala156=) | |
| 11 | g.44265101G>A | CA380181651 | ALX4 | c.989C>T (p.Ala330Val) c.467C>T (p.Ala156Val) | gnomAD v3 gnomAD v4 |
| 11 | g.44265101G>C | CA380181652 | ALX4 | c.989C>G (p.Ala330Gly) c.467C>G (p.Ala156Gly) | |
| 11 | g.44265101G>T | CA380181653 | ALX4 | c.989C>A (p.Ala330Asp) c.467C>A (p.Ala156Asp) | |
| 11 | g.44265102C>A | CA380181654 | ALX4 | c.988G>T (p.Ala330Ser) c.466G>T (p.Ala156Ser) | |
| 11 | g.44265102C>G | CA380181655 | ALX4 | c.988G>C (p.Ala330Pro) c.466G>C (p.Ala156Pro) | |
| 11 | g.44265102C>T | CA380181656 | ALX4 | c.988G>A (p.Ala330Thr) c.466G>A (p.Ala156Thr) | gnomAD v4 |
| 11 | g.44265103A= | CA1967914978 | ALX4 | c.987T= (p.Pro329=) c.465T= (p.Pro155=) | |
| 11 | g.44265103A>C | CA474035365 | ALX4 | c.987T>G (p.Pro329=) c.465T>G (p.Pro155=) | |
| 11 | g.44265103A>G | CA474035362 | ALX4 | c.987T>C (p.Pro329=) c.465T>C (p.Pro155=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265103A>T | CA474035364 | ALX4 | c.987T>A (p.Pro329=) c.465T>A (p.Pro155=) | |
| 11 | g.44265104G>A | CA380181659 | ALX4 | c.986C>T (p.Pro329Leu) c.464C>T (p.Pro155Leu) | gnomAD v4 |
| 11 | g.44265104G>C | CA380181657 | ALX4 | c.986C>G (p.Pro329Arg) c.464C>G (p.Pro155Arg) | |
| 11 | g.44265104G>T | CA380181658 | ALX4 | c.986C>A (p.Pro329His) c.464C>A (p.Pro155His) | |
| 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 |