Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.152868993C>A | CA519182778 | NSDHL | c.999C>A (p.Gly333=) c.1047C>A (p.Gly349=) | |
X | g.152868993C>G | CA519182779 | NSDHL | c.999C>G (p.Gly333=) c.1047C>G (p.Gly349=) | |
X | g.152868993C>T | CA519182780 | NSDHL | c.999C>T (p.Gly333=) c.1047C>T (p.Gly349=) | |
X | g.152868994A>C | CA415287469 | NSDHL | c.1000A>C (p.Thr334Pro) c.1048A>C (p.Thr350Pro) | |
X | g.152868994A>G | CA415287470 | NSDHL | c.1000A>G (p.Thr334Ala) c.1048A>G (p.Thr350Ala) | |
X | g.152868994A>T | CA415287471 | NSDHL | c.1000A>T (p.Thr334Ser) c.1048A>T (p.Thr350Ser) | |
X | g.152868995C>A | CA415287472 | NSDHL | c.1001C>A (p.Thr334Lys) c.1049C>A (p.Thr350Lys) | |
X | g.152868995C= | CA2466154440 | NSDHL | c.1001C= (p.Thr334=) c.1049C= (p.Thr350=) | |
X | g.152868995C>G | CA415287473 | NSDHL | c.1001C>G (p.Thr334Arg) c.1049C>G (p.Thr350Arg) | dbSNP gnomAD v4 |
X | g.152868995C>T | CA415287474 | NSDHL | c.1001C>T (p.Thr334Ile) c.1049C>T (p.Thr350Ile) | dbSNP |
X | g.152868996A>C | CA519182785 | NSDHL | c.1002A>C (p.Thr334=) c.1050A>C (p.Thr350=) | |
X | g.152868996A>G | CA519182787 | NSDHL | c.1002A>G (p.Thr334=) c.1050A>G (p.Thr350=) | gnomAD v4 |
X | g.152868996A>T | CA519182789 | NSDHL | c.1002A>T (p.Thr334=) c.1050A>T (p.Thr350=) | |
X | g.152868997T>A | CA415287475 | NSDHL | c.1003T>A (p.Phe335Ile) c.1051T>A (p.Phe351Ile) | |
X | g.152868997T>C | CA415287476 | NSDHL | c.1003T>C (p.Phe335Leu) c.1051T>C (p.Phe351Leu) | |
X | g.152868997T>G | CA415287477 | NSDHL | c.1003T>G (p.Phe335Val) c.1051T>G (p.Phe351Val) | |
X | g.152868998T>A | CA415287479 | NSDHL | c.1004T>A (p.Phe335Tyr) c.1052T>A (p.Phe351Tyr) | |
X | g.152868998T>C | CA415287480 | NSDHL | c.1004T>C (p.Phe335Ser) c.1052T>C (p.Phe351Ser) | |
X | g.152868998T>G | CA415287478 | NSDHL | c.1004T>G (p.Phe335Cys) c.1052T>G (p.Phe351Cys) | |
X | g.152868999C>A | CA415287482 | NSDHL | c.1005C>A (p.Phe335Leu) c.1053C>A (p.Phe351Leu) | |
X | g.152868999C= | CA2466154441 | NSDHL | c.1005C= (p.Phe335=) c.1053C= (p.Phe351=) | |
X | g.152868999C>G | CA415287481 | NSDHL | c.1005C>G (p.Phe335Leu) c.1053C>G (p.Phe351Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152868999C>T | CA519182791 | NSDHL | c.1005C>T (p.Phe335=) c.1053C>T (p.Phe351=) | |
X | g.152869000C>A | CA415287484 | NSDHL | c.1006C>A (p.His336Asn) c.1054C>A (p.His352Asn) | |
X | g.152869000C>G | CA415287483 | NSDHL | c.1006C>G (p.His336Asp) c.1054C>G (p.His352Asp) | |
X | g.152869000C>T | CA415287485 | NSDHL | c.1006C>T (p.His336Tyr) c.1054C>T (p.His352Tyr) | COSMIC |
X | g.152869001A>C | CA415287486 | NSDHL | c.1007A>C (p.His336Pro) c.1055A>C (p.His352Pro) | |
X | g.152869001A>G | CA415287487 | NSDHL | c.1007A>G (p.His336Arg) c.1055A>G (p.His352Arg) | |
X | g.152869001A>T | CA415287488 | NSDHL | c.1007A>T (p.His336Leu) c.1055A>T (p.His352Leu) | |
X | g.152869002C>A | CA415287489 | NSDHL | c.1008C>A (p.His336Gln) c.1056C>A (p.His352Gln) | |
X | g.152869002C= | CA2466154442 | NSDHL | c.1008C= (p.His336=) c.1056C= (p.His352=) | |
X | g.152869002C>G | CA415287490 | NSDHL | c.1008C>G (p.His336Gln) c.1056C>G (p.His352Gln) | |
X | g.152869002C>T | CA519182792 | NSDHL | c.1008C>T (p.His336=) c.1056C>T (p.His352=) | dbSNP |
X | g.152869003T>A | CA415287491 | NSDHL | c.1009T>A (p.Tyr337Asn) c.1057T>A (p.Tyr353Asn) | |
X | g.152869003T>C | CA415287492 | NSDHL | c.1009T>C (p.Tyr337His) c.1057T>C (p.Tyr353His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152869003T>G | CA415287493 | NSDHL | c.1009T>G (p.Tyr337Asp) c.1057T>G (p.Tyr353Asp) | |
X | g.152869003T= | CA2466154443 | NSDHL | c.1009T= (p.Tyr337=) c.1057T= (p.Tyr353=) | |
X | g.152869004A= | CA2466154444 | NSDHL | c.1010A= (p.Tyr337=) c.1058A= (p.Tyr353=) | |
X | g.152869004A>C | CA415287494 | NSDHL | c.1010A>C (p.Tyr337Ser) c.1058A>C (p.Tyr353Ser) | |
X | g.152869004A>G | CA415287495 | NSDHL | c.1010A>G (p.Tyr337Cys) c.1058A>G (p.Tyr353Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152869004A>T | CA415287496 | NSDHL | c.1010A>T (p.Tyr337Phe) c.1058A>T (p.Tyr353Phe) | gnomAD v4 |
X | g.152869005C>A | CA415287497 | NSDHL | c.1011C>A (p.Tyr337Ter) c.1059C>A (p.Tyr353Ter) | |
X | g.152869005C>G | CA415287498 | NSDHL | c.1011C>G (p.Tyr337Ter) c.1059C>G (p.Tyr353Ter) | |
X | g.152869005C>T | CA519182794 | NSDHL | c.1011C>T (p.Tyr337=) c.1059C>T (p.Tyr353=) | |
X | g.152869006T>A | CA415287501 | NSDHL | c.1012T>A (p.Tyr338Asn) c.1060T>A (p.Tyr354Asn) | |
X | g.152869006T>C | CA415287499 | NSDHL | c.1012T>C (p.Tyr338His) c.1060T>C (p.Tyr354His) | |
X | g.152869006T>G | CA415287500 | NSDHL | c.1012T>G (p.Tyr338Asp) c.1060T>G (p.Tyr354Asp) | |
X | g.152869007A>C | CA415287502 | NSDHL | c.1013A>C (p.Tyr338Ser) c.1061A>C (p.Tyr354Ser) | |
X | g.152869007A>G | CA415287503 | NSDHL | c.1013A>G (p.Tyr338Cys) c.1061A>G (p.Tyr354Cys) | |
X | g.152869007A>T | CA415287504 | NSDHL | c.1013A>T (p.Tyr338Phe) c.1061A>T (p.Tyr354Phe) |