Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
X | g.152869008C>A | CA415287505 | NSDHL | c.1014C>A (p.Tyr338Ter) c.1062C>A (p.Tyr354Ter) | |
X | g.152869008C>G | CA415287506 | NSDHL | c.1014C>G (p.Tyr338Ter) c.1062C>G (p.Tyr354Ter) | |
X | g.152869008C>T | CA519182799 | NSDHL | c.1014C>T (p.Tyr338=) c.1062C>T (p.Tyr354=) | |
X | g.152869009A>C | CA415287507 | NSDHL | c.1015A>C (p.Ser339Arg) c.1063A>C (p.Ser355Arg) | |
X | g.152869009A>G | CA415287508 | NSDHL | c.1015A>G (p.Ser339Gly) c.1063A>G (p.Ser355Gly) | |
X | g.152869009A>T | CA415287509 | NSDHL | c.1015A>T (p.Ser339Cys) c.1063A>T (p.Ser355Cys) | |
X | g.152869010G>A | CA415287510 | NSDHL | c.1016G>A (p.Ser339Asn) c.1064G>A (p.Ser355Asn) | |
X | g.152869010G>C | CA415287511 | NSDHL | c.1016G>C (p.Ser339Thr) c.1064G>C (p.Ser355Thr) | |
X | g.152869010G>T | CA415287512 | NSDHL | c.1016G>T (p.Ser339Ile) c.1064G>T (p.Ser355Ile) | |
X | g.152869011C>A | CA415287513 | NSDHL | c.1017C>A (p.Ser339Arg) c.1065C>A (p.Ser355Arg) | |
X | g.152869011C= | CA2466154445 | NSDHL | c.1017C= (p.Ser339=) c.1065C= (p.Ser355=) | |
X | g.152869011C>G | CA415287514 | NSDHL | c.1017C>G (p.Ser339Arg) c.1065C>G (p.Ser355Arg) | |
X | g.152869011C>T | CA10544889 | NSDHL | c.1017C>T (p.Ser339=) c.1065C>T (p.Ser355=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152869012T>A | CA415287515 | NSDHL | c.1018T>A (p.Cys340Ser) c.1066T>A (p.Cys356Ser) | |
X | g.152869012T>C | CA415287516 | NSDHL | c.1018T>C (p.Cys340Arg) c.1066T>C (p.Cys356Arg) | |
X | g.152869012T>G | CA415287517 | NSDHL | c.1018T>G (p.Cys340Gly) c.1066T>G (p.Cys356Gly) | |
X | g.152869013G>A | CA415287518 | NSDHL | c.1019G>A (p.Cys340Tyr) c.1067G>A (p.Cys356Tyr) | |
X | g.152869013G>C | CA415287519 | NSDHL | c.1019G>C (p.Cys340Ser) c.1067G>C (p.Cys356Ser) | |
X | g.152869013G>T | CA415287520 | NSDHL | c.1019G>T (p.Cys340Phe) c.1067G>T (p.Cys356Phe) | |
X | g.152869014C>A | CA415287521 | NSDHL | c.1020C>A (p.Cys340Ter) c.1068C>A (p.Cys356Ter) | |
X | g.152869014C= | CA2466154446 | NSDHL | c.1020C= (p.Cys340=) c.1068C= (p.Cys356=) | |
X | g.152869014C>G | CA415287522 | NSDHL | c.1020C>G (p.Cys340Trp) c.1068C>G (p.Cys356Trp) | |
X | g.152869014C>T | CA10544890 | NSDHL | c.1020C>T (p.Cys340=) c.1068C>T (p.Cys356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152869015G>A | CA10544891 | NSDHL | c.1021G>A (p.Glu341Lys) c.1069G>A (p.Glu357Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.152869015G>C | CA415287523 | NSDHL | c.1021G>C (p.Glu341Gln) c.1069G>C (p.Glu357Gln) | |
X | g.152869015G= | CA2466154447 | NSDHL | c.1021G= (p.Glu341=) c.1069G= (p.Glu357=) | |
X | g.152869015G>T | CA415287524 | NSDHL | c.1021G>T (p.Glu341Ter) c.1069G>T (p.Glu357Ter) | |
X | g.152869016A>C | CA415287525 | NSDHL | c.1022A>C (p.Glu341Ala) c.1070A>C (p.Glu357Ala) | |
X | g.152869016A>G | CA415287527 | NSDHL | c.1022A>G (p.Glu341Gly) c.1070A>G (p.Glu357Gly) | |
X | g.152869016A>T | CA415287526 | NSDHL | c.1022A>T (p.Glu341Val) c.1070A>T (p.Glu357Val) | |
X | g.152869017G>A | CA519182815 | NSDHL | c.1023G>A (p.Glu341=) c.1071G>A (p.Glu357=) | gnomAD v4 |
X | g.152869017G>C | CA415287528 | NSDHL | c.1023G>C (p.Glu341Asp) c.1071G>C (p.Glu357Asp) | |
X | g.152869017G>T | CA415287529 | NSDHL | c.1023G>T (p.Glu341Asp) c.1071G>T (p.Glu357Asp) | |
X | g.152869018A>C | CA519182817 | NSDHL | c.1024A>C (p.Arg342=) c.1072A>C (p.Arg358=) | |
X | g.152869018A>G | CA415287530 | NSDHL | c.1024A>G (p.Arg342Gly) c.1072A>G (p.Arg358Gly) | |
X | g.152869018A>T | CA415287531 | NSDHL | c.1024A>T (p.Arg342Ter) c.1072A>T (p.Arg358Ter) | |
X | g.152869019G>A | CA415287532 | NSDHL | c.1025G>A (p.Arg342Lys) c.1073G>A (p.Arg358Lys) | gnomAD v4 |
X | g.152869019G>C | CA415287533 | NSDHL | c.1025G>C (p.Arg342Thr) c.1073G>C (p.Arg358Thr) | |
X | g.152869019G>T | CA415287534 | NSDHL | c.1025G>T (p.Arg342Ile) c.1073G>T (p.Arg358Ile) | |
X | g.152869020A= | CA2466154448 | NSDHL | c.1026A= (p.Arg342=) c.1074A= (p.Arg358=) | |
X | g.152869020A>C | CA415287535 | NSDHL | c.1026A>C (p.Arg342Ser) c.1074A>C (p.Arg358Ser) | |
X | g.152869020A>G | CA519182818 | NSDHL | c.1026A>G (p.Arg342=) c.1074A>G (p.Arg358=) | |
X | g.152869020A>T | CA415287536 | NSDHL | c.1026A>T (p.Arg342Ser) c.1074A>T (p.Arg358Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.152869021G>A | CA415287539 | NSDHL | c.1027G>A (p.Ala343Thr) c.1075G>A (p.Ala359Thr) | |
X | g.152869021G>C | CA415287538 | NSDHL | c.1027G>C (p.Ala343Pro) c.1075G>C (p.Ala359Pro) | |
X | g.152869021G>T | CA415287537 | NSDHL | c.1027G>T (p.Ala343Ser) c.1075G>T (p.Ala359Ser) | |
X | g.152869022C>A | CA415287540 | NSDHL | c.1028C>A (p.Ala343Asp) c.1076C>A (p.Ala359Asp) | |
X | g.152869022C>G | CA415287541 | NSDHL | c.1028C>G (p.Ala343Gly) c.1076C>G (p.Ala359Gly) | |
X | g.152869022C>T | CA415287542 | NSDHL | c.1028C>T (p.Ala343Val) c.1076C>T (p.Ala359Val) | |
X | g.152869023C>A | CA519182825 | NSDHL | c.1029C>A (p.Ala343=) c.1077C>A (p.Ala359=) | |
X | g.152869023C= | CA2466154449 | NSDHL | c.1029C= (p.Ala343=) c.1077C= (p.Ala359=) | |
X | g.152869023C>G | CA519182826 | NSDHL | c.1029C>G (p.Ala343=) c.1077C>G (p.Ala359=) | |
X | g.152869023C>T | CA519182824 | NSDHL | c.1029C>T (p.Ala343=) c.1077C>T (p.Ala359=) | dbSNP |
X | g.152869024A>C | CA415287543 | NSDHL | c.1030A>C (p.Lys344Gln) c.1078A>C (p.Lys360Gln) | |
X | g.152869024A>G | CA415287544 | NSDHL | c.1030A>G (p.Lys344Glu) c.1078A>G (p.Lys360Glu) | gnomAD v4 |
X | g.152869024A>T | CA415287545 | NSDHL | c.1030A>T (p.Lys344Ter) c.1078A>T (p.Lys360Ter) | |
X | g.152869025A>C | CA415287546 | NSDHL | c.1031A>C (p.Lys344Thr) c.1079A>C (p.Lys360Thr) | |
X | g.152869025A>G | CA415287547 | NSDHL | c.1031A>G (p.Lys344Arg) c.1079A>G (p.Lys360Arg) | ClinVar dbSNP gnomAD v4 |
X | g.152869025A>T | CA415287548 | NSDHL | c.1031A>T (p.Lys344Ile) c.1079A>T (p.Lys360Ile) | |
X | g.152869026A= | CA2466154450 | NSDHL | c.1032A= (p.Lys344=) c.1080A= (p.Lys360=) | |
X | g.152869026A>C | CA415287549 | NSDHL | c.1032A>C (p.Lys344Asn) c.1080A>C (p.Lys360Asn) | |
X | g.152869026A>G | CA10544892 | NSDHL | c.1032A>G (p.Lys344=) c.1080A>G (p.Lys360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152869026A>T | CA415287550 | NSDHL | c.1032A>T (p.Lys344Asn) c.1080A>T (p.Lys360Asn) | |
X | g.152869027A>C | CA415287553 | NSDHL | c.1033A>C (p.Lys345Gln) c.1081A>C (p.Lys361Gln) | |
X | g.152869027A>G | CA415287552 | NSDHL | c.1033A>G (p.Lys345Glu) c.1081A>G (p.Lys361Glu) | |
X | g.152869027A>T | CA415287551 | NSDHL | c.1033A>T (p.Lys345Ter) c.1081A>T (p.Lys361Ter) | |
X | g.152869028A>C | CA415287554 | NSDHL | c.1034A>C (p.Lys345Thr) c.1082A>C (p.Lys361Thr) | |
X | g.152869028A>G | CA415287555 | NSDHL | c.1034A>G (p.Lys345Arg) c.1082A>G (p.Lys361Arg) | |
X | g.152869028A>T | CA415287556 | NSDHL | c.1034A>T (p.Lys345Met) c.1082A>T (p.Lys361Met) | |
X | g.152869029G>A | CA519182831 | NSDHL | c.1035G>A (p.Lys345=) c.1083G>A (p.Lys361=) | |
X | g.152869029G>C | CA415287557 | NSDHL | c.1035G>C (p.Lys345Asn) c.1083G>C (p.Lys361Asn) | |
X | g.152869029G>T | CA415287558 | NSDHL | c.1035G>T (p.Lys345Asn) c.1083G>T (p.Lys361Asn) | |
X | g.152869030G>A | CA415287559 | NSDHL | c.1036G>A (p.Ala346Thr) c.1084G>A (p.Ala362Thr) | dbSNP |
X | g.152869030G>C | CA415287560 | NSDHL | c.1036G>C (p.Ala346Pro) c.1084G>C (p.Ala362Pro) | |
X | g.152869030G= | CA2466154451 | NSDHL | c.1036G= (p.Ala346=) c.1084G= (p.Ala362=) | |
X | g.152869030G>T | CA415287561 | NSDHL | c.1036G>T (p.Ala346Ser) c.1084G>T (p.Ala362Ser) | |
X | g.152869031C>A | CA415287562 | NSDHL | c.1037C>A (p.Ala346Asp) c.1085C>A (p.Ala362Asp) | ClinVar |
X | g.152869031C= | CA2466154452 | NSDHL | c.1037C= (p.Ala346=) c.1085C= (p.Ala362=) | |
X | g.152869031C>G | CA415287563 | NSDHL | c.1037C>G (p.Ala346Gly) c.1085C>G (p.Ala362Gly) | ClinVar dbSNP gnomAD v4 |
X | g.152869031C>T | CA10544893 | NSDHL | c.1037C>T (p.Ala346Val) c.1085C>T (p.Ala362Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152869032C>A | CA519182835 | NSDHL | c.1038C>A (p.Ala346=) c.1086C>A (p.Ala362=) | |
X | g.152869032C= | CA2466154453 | NSDHL | c.1038C= (p.Ala346=) c.1086C= (p.Ala362=) | |
X | g.152869032C>G | CA519182833 | NSDHL | c.1038C>G (p.Ala346=) c.1086C>G (p.Ala362=) | |
X | g.152869032C>T | CA519182834 | NSDHL | c.1038C>T (p.Ala346=) c.1086C>T (p.Ala362=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.152869032_152869035dup | CA276997 | NSDHL | c.1038_1041dup (p.Gly348HisfsTer11) c.1086_1089dup (p.Gly364HisfsTer11) | ClinVar dbSNP |
X | g.152869033A= | CA2466154454 | NSDHL | c.1039A= (p.Met347=) c.1087A= (p.Met363=) | |
X | g.152869033A>C | CA415287564 | NSDHL | c.1039A>C (p.Met347Leu) c.1087A>C (p.Met363Leu) | |
X | g.152869033A>G | CA415287566 | NSDHL | c.1039A>G (p.Met347Val) c.1087A>G (p.Met363Val) | dbSNP |
X | g.152869033A>T | CA415287565 | NSDHL | c.1039A>T (p.Met347Leu) c.1087A>T (p.Met363Leu) | |
X | g.152869034T>A | CA415287567 | NSDHL | c.1040T>A (p.Met347Lys) c.1088T>A (p.Met363Lys) | |
X | g.152869034T>C | CA415287568 | NSDHL | c.1040T>C (p.Met347Thr) c.1088T>C (p.Met363Thr) | |
X | g.152869034T>G | CA10544894 | NSDHL | c.1040T>G (p.Met347Arg) c.1088T>G (p.Met363Arg) | dbSNP ExAC |
X | g.152869034T= | CA2466154455 | NSDHL | c.1040T= (p.Met347=) c.1088T= (p.Met363=) | |
X | g.152869035G>A | CA415287569 | NSDHL | c.1041G>A (p.Met347Ile) c.1089G>A (p.Met363Ile) | |
X | g.152869035G>C | CA415287570 | NSDHL | c.1041G>C (p.Met347Ile) c.1089G>C (p.Met363Ile) | |
X | g.152869035G>T | CA415287571 | NSDHL | c.1041G>T (p.Met347Ile) c.1089G>T (p.Met363Ile) | |
X | g.152869036G>A | CA415287572 | NSDHL | c.1042G>A (p.Gly348Ser) c.1090G>A (p.Gly364Ser) | |
X | g.152869036G>C | CA415287573 | NSDHL | c.1042G>C (p.Gly348Arg) c.1090G>C (p.Gly364Arg) | |
X | g.152869036G>T | CA415287574 | NSDHL | c.1042G>T (p.Gly348Cys) c.1090G>T (p.Gly364Cys) | |
X | g.152869037G>A | CA415287575 | NSDHL | c.1043G>A (p.Gly348Asp) c.1091G>A (p.Gly364Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.152869037G>C | CA10544896 | NSDHL | c.1043G>C (p.Gly348Ala) c.1091G>C (p.Gly364Ala) | dbSNP ExAC gnomAD v2 |
X | g.152869037G= | CA2466154456 | NSDHL | c.1043G= (p.Gly348=) c.1091G= (p.Gly364=) | |
X | g.152869037G>T | CA10544895 | NSDHL | c.1043G>T (p.Gly348Val) c.1091G>T (p.Gly364Val) | dbSNP ExAC |
X | g.152869038C>A | CA519182837 | NSDHL | c.1044C>A (p.Gly348=) c.1092C>A (p.Gly364=) | |
X | g.152869038C= | CA2466154457 | NSDHL | c.1044C= (p.Gly348=) c.1092C= (p.Gly364=) | |
X | g.152869038C>G | CA519182838 | NSDHL | c.1044C>G (p.Gly348=) c.1092C>G (p.Gly364=) | |
X | g.152869038C>T | CA10544897 | NSDHL | c.1044C>T (p.Gly348=) c.1092C>T (p.Gly364=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152869039T>A | CA415287576 | NSDHL | c.1045T>A (p.Tyr349Asn) c.1093T>A (p.Tyr365Asn) | |
X | g.152869039T>C | CA415287577 | NSDHL | c.1045T>C (p.Tyr349His) c.1093T>C (p.Tyr365His) | |
X | g.152869039T>G | CA415287578 | NSDHL | c.1045T>G (p.Tyr349Asp) c.1093T>G (p.Tyr365Asp) | |
X | g.152869040A= | CA2466154458 | NSDHL | c.1046A= (p.Tyr349=) c.1094A= (p.Tyr365=) | |
X | g.152869040A>C | CA10544898 | NSDHL | c.1046A>C (p.Tyr349Ser) c.1094A>C (p.Tyr365Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152869040A>G | CA341814 | NSDHL | c.1046A>G (p.Tyr349Cys) c.1094A>G (p.Tyr365Cys) | ClinVar dbSNP |
X | g.152869040A>T | CA415287579 | NSDHL | c.1046A>T (p.Tyr349Phe) c.1094A>T (p.Tyr365Phe) | |
X | g.152869041C>A | CA415287580 | NSDHL | c.1047C>A (p.Tyr349Ter) c.1095C>A (p.Tyr365Ter) | |
X | g.152869041C>G | CA415287581 | NSDHL | c.1047C>G (p.Tyr349Ter) c.1095C>G (p.Tyr365Ter) | |
X | g.152869041C>T | CA519182842 | NSDHL | c.1047C>T (p.Tyr349=) c.1095C>T (p.Tyr365=) | |
X | g.152869042C>A | CA415287582 | NSDHL | c.1048C>A (p.Gln350Lys) c.1096C>A (p.Gln366Lys) | |
X | g.152869042C>G | CA415287583 | NSDHL | c.1048C>G (p.Gln350Glu) c.1096C>G (p.Gln366Glu) | |
X | g.152869042C>T | CA415287584 | NSDHL | c.1048C>T (p.Gln350Ter) c.1096C>T (p.Gln366Ter) | |
X | g.152869043A>C | CA415287587 | NSDHL | c.1049A>C (p.Gln350Pro) c.1097A>C (p.Gln366Pro) | |
X | g.152869043A>G | CA415287586 | NSDHL | c.1049A>G (p.Gln350Arg) c.1097A>G (p.Gln366Arg) | ClinVar |
X | g.152869043A>T | CA415287585 | NSDHL | c.1049A>T (p.Gln350Leu) c.1097A>T (p.Gln366Leu) | |
X | g.152869044G>A | CA519182846 | NSDHL | c.1050G>A (p.Gln350=) c.1098G>A (p.Gln366=) | |
X | g.152869044G>C | CA415287588 | NSDHL | c.1050G>C (p.Gln350His) c.1098G>C (p.Gln366His) | |
X | g.152869044G>T | CA415287589 | NSDHL | c.1050G>T (p.Gln350His) c.1098G>T (p.Gln366His) | |
X | g.152869045C>A | CA415287590 | NSDHL | c.1051C>A (p.Pro351Thr) c.1099C>A (p.Pro367Thr) | |
X | g.152869045C>G | CA415287592 | NSDHL | c.1051C>G (p.Pro351Ala) c.1099C>G (p.Pro367Ala) | |
X | g.152869045C>T | CA415287591 | NSDHL | c.1051C>T (p.Pro351Ser) c.1099C>T (p.Pro367Ser) | |
X | g.152869046C>A | CA415287593 | NSDHL | c.1052C>A (p.Pro351Gln) c.1100C>A (p.Pro367Gln) | |
X | g.152869046C>G | CA415287594 | NSDHL | c.1052C>G (p.Pro351Arg) c.1100C>G (p.Pro367Arg) | |
X | g.152869046C>T | CA415287595 | NSDHL | c.1052C>T (p.Pro351Leu) c.1100C>T (p.Pro367Leu) | |
X | g.152869047A= | CA2466154459 | NSDHL | c.1053A= (p.Pro351=) c.1101A= (p.Pro367=) | |
X | g.152869047A>C | CA519182849 | NSDHL | c.1053A>C (p.Pro351=) c.1101A>C (p.Pro367=) | |
X | g.152869047A>G | CA519182848 | NSDHL | c.1053A>G (p.Pro351=) c.1101A>G (p.Pro367=) | gnomAD v4 |
X | g.152869047A>T | CA10544899 | NSDHL | c.1053A>T (p.Pro351=) c.1101A>T (p.Pro367=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152869048C>A | CA415287596 | NSDHL | c.1054C>A (p.Leu352Ile) c.1102C>A (p.Leu368Ile) | |
X | g.152869048C= | CA2466154460 | NSDHL | c.1054C= (p.Leu352=) c.1102C= (p.Leu368=) | |
X | g.152869048C>G | CA10544900 | NSDHL | c.1054C>G (p.Leu352Val) c.1102C>G (p.Leu368Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152869048C>T | CA172873 | NSDHL | c.1054C>T (p.Leu352=) c.1102C>T (p.Leu368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152869049T>A | CA415287597 | NSDHL | c.1055T>A (p.Leu352Gln) c.1103T>A (p.Leu368Gln) | |
X | g.152869049T>C | CA415287598 | NSDHL | c.1055T>C (p.Leu352Pro) c.1103T>C (p.Leu368Pro) | |
X | g.152869049T>G | CA415287599 | NSDHL | c.1055T>G (p.Leu352Arg) c.1103T>G (p.Leu368Arg) | |
X | g.152869050A>C | CA519182851 | NSDHL | c.1056A>C (p.Leu352=) c.1104A>C (p.Leu368=) | |
X | g.152869050A>G | CA519182852 | NSDHL | c.1056A>G (p.Leu352=) c.1104A>G (p.Leu368=) | gnomAD v4 |
X | g.152869050A>T | CA519182853 | NSDHL | c.1056A>T (p.Leu352=) c.1104A>T (p.Leu368=) | |
X | g.152869051G>A | CA415287602 | NSDHL | c.1057G>A (p.Val353Met) c.1105G>A (p.Val369Met) | dbSNP |
X | g.152869051G>C | CA415287601 | NSDHL | c.1057G>C (p.Val353Leu) c.1105G>C (p.Val369Leu) | |
X | g.152869051G= | CA2466154461 | NSDHL | c.1057G= (p.Val353=) c.1105G= (p.Val369=) | |
X | g.152869051G>T | CA415287600 | NSDHL | c.1057G>T (p.Val353Leu) c.1105G>T (p.Val369Leu) | |
X | g.152869052T>A | CA415287603 | NSDHL | c.1058T>A (p.Val353Glu) c.1106T>A (p.Val369Glu) | |
X | g.152869052T>C | CA415287604 | NSDHL | c.1058T>C (p.Val353Ala) c.1106T>C (p.Val369Ala) | ClinVar dbSNP gnomAD v4 |
X | g.152869052T>G | CA415287605 | NSDHL | c.1058T>G (p.Val353Gly) c.1106T>G (p.Val369Gly) | |
X | g.152869053G>A | CA519182856 | NSDHL | c.1059G>A (p.Val353=) c.1107G>A (p.Val369=) | |
X | g.152869053G>C | CA519182855 | NSDHL | c.1059G>C (p.Val353=) c.1107G>C (p.Val369=) | |
X | g.152869053G>T | CA519182854 | NSDHL | c.1059G>T (p.Val353=) c.1107G>T (p.Val369=) | |
X | g.152869054A>C | CA415287606 | NSDHL | c.1060A>C (p.Thr354Pro) c.1108A>C (p.Thr370Pro) | |
X | g.152869054A>G | CA415287607 | NSDHL | c.1060A>G (p.Thr354Ala) c.1108A>G (p.Thr370Ala) | |
X | g.152869054A>T | CA415287608 | NSDHL | c.1060A>T (p.Thr354Ser) c.1108A>T (p.Thr370Ser) | |
X | g.152869055C>A | CA415287609 | NSDHL | c.1061C>A (p.Thr354Asn) c.1109C>A (p.Thr370Asn) | |
X | g.152869055C= | CA2466154462 | NSDHL | c.1061C= (p.Thr354=) c.1109C= (p.Thr370=) | |
X | g.152869055C>G | CA415287610 | NSDHL | c.1061C>G (p.Thr354Ser) c.1109C>G (p.Thr370Ser) | gnomAD v4 |
X | g.152869055C>T | CA415287611 | NSDHL | c.1061C>T (p.Thr354Ile) c.1109C>T (p.Thr370Ile) | dbSNP gnomAD v2 gnomAD v4 |
X | g.152869056C>A | CA10544901 | NSDHL | c.1062C>A (p.Thr354=) c.1110C>A (p.Thr370=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152869056C= | CA2466154463 | NSDHL | c.1062C= (p.Thr354=) c.1110C= (p.Thr370=) | |
X | g.152869056C>G | CA519182860 | NSDHL | c.1062C>G (p.Thr354=) c.1110C>G (p.Thr370=) | |
X | g.152869056C>T | CA519182861 | NSDHL | c.1062C>T (p.Thr354=) c.1110C>T (p.Thr370=) | |
X | g.152869057A>C | CA415287614 | NSDHL | c.1063A>C (p.Met355Leu) c.1111A>C (p.Met371Leu) | |
X | g.152869057A>G | CA415287613 | NSDHL | c.1063A>G (p.Met355Val) c.1111A>G (p.Met371Val) | gnomAD v4 |
X | g.152869057A>T | CA415287612 | NSDHL | c.1063A>T (p.Met355Leu) c.1111A>T (p.Met371Leu) | |
X | g.152869058T>A | CA415287615 | NSDHL | c.1064T>A (p.Met355Lys) c.1112T>A (p.Met371Lys) | |
X | g.152869058T>C | CA415287616 | NSDHL | c.1064T>C (p.Met355Thr) c.1112T>C (p.Met371Thr) | |
X | g.152869058T>G | CA415287617 | NSDHL | c.1064T>G (p.Met355Arg) c.1112T>G (p.Met371Arg) | |
X | g.152869059G>A | CA415287618 | NSDHL | c.1065G>A (p.Met355Ile) c.1113G>A (p.Met371Ile) | gnomAD v4 |
X | g.152869059G>C | CA10544902 | NSDHL | c.1065G>C (p.Met355Ile) c.1113G>C (p.Met371Ile) | dbSNP ExAC gnomAD v2 |
X | g.152869059G= | CA2466154464 | NSDHL | c.1065G= (p.Met355=) c.1113G= (p.Met371=) | |
X | g.152869059G>T | CA415287619 | NSDHL | c.1065G>T (p.Met355Ile) c.1113G>T (p.Met371Ile) | |
X | g.152869060G>A | CA10544903 | NSDHL | c.1066G>A (p.Asp356Asn) c.1114G>A (p.Asp372Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152869060G>C | CA415287620 | NSDHL | c.1066G>C (p.Asp356His) c.1114G>C (p.Asp372His) | |
X | g.152869060G= | CA2466154465 | NSDHL | c.1066G= (p.Asp356=) c.1114G= (p.Asp372=) | |
X | g.152869060G>T | CA415287621 | NSDHL | c.1066G>T (p.Asp356Tyr) c.1114G>T (p.Asp372Tyr) | |
X | g.152869061A= | CA2466154466 | NSDHL | c.1067A= (p.Asp356=) c.1115A= (p.Asp372=) | |
X | g.152869061A>C | CA415287622 | NSDHL | c.1067A>C (p.Asp356Ala) c.1115A>C (p.Asp372Ala) | |
X | g.152869061A>G | CA337613830 | NSDHL | c.1067A>G (p.Asp356Gly) c.1115A>G (p.Asp372Gly) | dbSNP gnomAD v4 |
X | g.152869061A>T | CA415287623 | NSDHL | c.1067A>T (p.Asp356Val) c.1115A>T (p.Asp372Val) | gnomAD v4 |
X | g.152869062T>A | CA415287625 | NSDHL | c.1068T>A (p.Asp356Glu) c.1116T>A (p.Asp372Glu) | |
X | g.152869062T>C | CA519182865 | NSDHL | c.1068T>C (p.Asp356=) c.1116T>C (p.Asp372=) | gnomAD v4 |
X | g.152869062T>G | CA415287624 | NSDHL | c.1068T>G (p.Asp356Glu) c.1116T>G (p.Asp372Glu) | |
X | g.152869063G>A | CA415287626 | NSDHL | c.1069G>A (p.Asp357Asn) c.1117G>A (p.Asp373Asn) | |
X | g.152869063G>C | CA415287627 | NSDHL | c.1069G>C (p.Asp357His) c.1117G>C (p.Asp373His) | |
X | g.152869063G>T | CA415287628 | NSDHL | c.1069G>T (p.Asp357Tyr) c.1117G>T (p.Asp373Tyr) | |
X | g.152869064A>C | CA415287629 | NSDHL | c.1070A>C (p.Asp357Ala) c.1118A>C (p.Asp373Ala) | |
X | g.152869064A>G | CA415287630 | NSDHL | c.1070A>G (p.Asp357Gly) c.1118A>G (p.Asp373Gly) | |
X | g.152869064A>T | CA415287631 | NSDHL | c.1070A>T (p.Asp357Val) c.1118A>T (p.Asp373Val) | |
X | g.152869065T>A | CA415287632 | NSDHL | c.1071T>A (p.Asp357Glu) c.1119T>A (p.Asp373Glu) | |
X | g.152869065T>C | CA519182869 | NSDHL | c.1071T>C (p.Asp357=) c.1119T>C (p.Asp373=) | |
X | g.152869065T>G | CA415287633 | NSDHL | c.1071T>G (p.Asp357Glu) c.1119T>G (p.Asp373Glu) | |
X | g.152869066G>A | CA415287634 | NSDHL | c.1072G>A (p.Ala358Thr) c.1120G>A (p.Ala374Thr) | |
X | g.152869066G>C | CA415287635 | NSDHL | c.1072G>C (p.Ala358Pro) c.1120G>C (p.Ala374Pro) | |
X | g.152869066G>T | CA415287636 | NSDHL | c.1072G>T (p.Ala358Ser) c.1120G>T (p.Ala374Ser) | |
X | g.152869067C>A | CA415287638 | NSDHL | c.1073C>A (p.Ala358Asp) c.1121C>A (p.Ala374Asp) | |
X | g.152869067C= | CA2466154467 | NSDHL | c.1073C= (p.Ala358=) c.1121C= (p.Ala374=) | |
X | g.152869067C>G | CA10544904 | NSDHL | c.1073C>G (p.Ala358Gly) c.1121C>G (p.Ala374Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152869067C>T | CA415287637 | NSDHL | c.1073C>T (p.Ala358Val) c.1121C>T (p.Ala374Val) | |
X | g.152869068T>A | CA519182870 | NSDHL | c.1074T>A (p.Ala358=) c.1122T>A (p.Ala374=) | |
X | g.152869068T>C | CA519182871 | NSDHL | c.1074T>C (p.Ala358=) c.1122T>C (p.Ala374=) | |
X | g.152869068T>G | CA519182872 | NSDHL | c.1074T>G (p.Ala358=) c.1122T>G (p.Ala374=) | |
X | g.152869069A>C | CA415287639 | NSDHL | c.1075A>C (p.Met359Leu) c.1123A>C (p.Met375Leu) | |
X | g.152869069A>G | CA415287640 | NSDHL | c.1075A>G (p.Met359Val) c.1123A>G (p.Met375Val) | gnomAD v4 |
X | g.152869069A>T | CA415287641 | NSDHL | c.1075A>T (p.Met359Leu) c.1123A>T (p.Met375Leu) | |
X | g.152869070T>A | CA415287642 | NSDHL | c.1076T>A (p.Met359Lys) c.1124T>A (p.Met375Lys) | |
X | g.152869070T>C | CA415287643 | NSDHL | c.1076T>C (p.Met359Thr) c.1124T>C (p.Met375Thr) | |
X | g.152869070T>G | CA415287644 | NSDHL | c.1076T>G (p.Met359Arg) c.1124T>G (p.Met375Arg) | |
X | g.152869071G>A | CA415287645 | NSDHL | c.1077G>A (p.Met359Ile) c.1125G>A (p.Met375Ile) | |
X | g.152869071G>C | CA415287646 | NSDHL | c.1077G>C (p.Met359Ile) c.1125G>C (p.Met375Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152869071G= | CA2466154468 | NSDHL | c.1077G= (p.Met359=) c.1125G= (p.Met375=) | |
X | g.152869071G>T | CA415287647 | NSDHL | c.1077G>T (p.Met359Ile) c.1125G>T (p.Met375Ile) | |
X | g.152869072G>A | CA415287648 | NSDHL | c.1078G>A (p.Glu360Lys) c.1126G>A (p.Glu376Lys) | |
X | g.152869072G>C | CA415287649 | NSDHL | c.1078G>C (p.Glu360Gln) c.1126G>C (p.Glu376Gln) | |
X | g.152869072G>T | CA415287650 | NSDHL | c.1078G>T (p.Glu360Ter) c.1126G>T (p.Glu376Ter) | |
X | g.152869073A= | CA2466154469 | NSDHL | c.1079A= (p.Glu360=) c.1127A= (p.Glu376=) | |
X | g.152869073A>C | CA415287652 | NSDHL | c.1079A>C (p.Glu360Ala) c.1127A>C (p.Glu376Ala) | |
X | g.152869073A>G | CA415287651 | NSDHL | c.1079A>G (p.Glu360Gly) c.1127A>G (p.Glu376Gly) | gnomAD v4 |
X | g.152869073A>T | CA337613833 | NSDHL | c.1079A>T (p.Glu360Val) c.1127A>T (p.Glu376Val) | dbSNP |
X | g.152869074G>A | CA519182483 | NSDHL | c.1080G>A (p.Glu360=) c.1128G>A (p.Glu376=) | |
X | g.152869074G>C | CA415287653 | NSDHL | c.1080G>C (p.Glu360Asp) c.1128G>C (p.Glu376Asp) | |
X | g.152869074G>T | CA415287654 | NSDHL | c.1080G>T (p.Glu360Asp) c.1128G>T (p.Glu376Asp) | |
X | g.152869075A>C | CA519182484 | NSDHL | c.1081A>C (p.Arg361=) c.1129A>C (p.Arg377=) | |
X | g.152869075A>G | CA415287655 | NSDHL | c.1081A>G (p.Arg361Gly) c.1129A>G (p.Arg377Gly) | |
X | g.152869075A>T | CA415287656 | NSDHL | c.1081A>T (p.Arg361Trp) c.1129A>T (p.Arg377Trp) | |
X | g.152869076G>A | CA415287657 | NSDHL | c.1082G>A (p.Arg361Lys) c.1130G>A (p.Arg377Lys) | |
X | g.152869076G>C | CA415287658 | NSDHL | c.1082G>C (p.Arg361Thr) c.1130G>C (p.Arg377Thr) | |
X | g.152869076G>T | CA415287659 | NSDHL | c.1082G>T (p.Arg361Met) c.1130G>T (p.Arg377Met) | |
X | g.152869077G>A | CA519182487 | NSDHL | c.1083G>A (p.Arg361=) c.1131G>A (p.Arg377=) | |
X | g.152869077G>C | CA415287660 | NSDHL | c.1083G>C (p.Arg361Ser) c.1131G>C (p.Arg377Ser) | |
X | g.152869077G>T | CA415287661 | NSDHL | c.1083G>T (p.Arg361Ser) c.1131G>T (p.Arg377Ser) | |
X | g.152869078A>C | CA415287662 | NSDHL | c.1084A>C (p.Thr362Pro) c.1132A>C (p.Thr378Pro) | |
X | g.152869078A>G | CA415287663 | NSDHL | c.1084A>G (p.Thr362Ala) c.1132A>G (p.Thr378Ala) | |
X | g.152869078A>T | CA415287664 | NSDHL | c.1084A>T (p.Thr362Ser) c.1132A>T (p.Thr378Ser) | |
X | g.152869079C>A | CA415287665 | NSDHL | c.1085C>A (p.Thr362Asn) c.1133C>A (p.Thr378Asn) | |
X | g.152869079C>G | CA415287667 | NSDHL | c.1085C>G (p.Thr362Ser) c.1133C>G (p.Thr378Ser) | |
X | g.152869079C>T | CA415287666 | NSDHL | c.1085C>T (p.Thr362Ile) c.1133C>T (p.Thr378Ile) | |
X | g.152869080C>A | CA519182490 | NSDHL | c.1086C>A (p.Thr362=) c.1134C>A (p.Thr378=) | dbSNP gnomAD v4 |
X | g.152869080C= | CA2466154470 | NSDHL | c.1086C= (p.Thr362=) c.1134C= (p.Thr378=) | |
X | g.152869080C>G | CA10544905 | NSDHL | c.1086C>G (p.Thr362=) c.1134C>G (p.Thr378=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152869080C>T | CA10544906 | NSDHL | c.1086C>T (p.Thr362=) c.1134C>T (p.Thr378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.152869081G>A | CA10544907 | NSDHL | c.1087G>A (p.Val363Met) c.1135G>A (p.Val379Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152869081G>C | CA415287668 | NSDHL | c.1087G>C (p.Val363Leu) c.1135G>C (p.Val379Leu) | |
X | g.152869081G= | CA2466154471 | NSDHL | c.1087G= (p.Val363=) c.1135G= (p.Val379=) | |
X | g.152869081G>T | CA415287669 | NSDHL | c.1087G>T (p.Val363Leu) c.1135G>T (p.Val379Leu) | COSMIC |
X | g.152869082T>A | CA415287670 | NSDHL | c.1088T>A (p.Val363Glu) c.1136T>A (p.Val379Glu) | |
X | g.152869082T>C | CA415287671 | NSDHL | c.1088T>C (p.Val363Ala) c.1136T>C (p.Val379Ala) | |
X | g.152869082T>G | CA415287672 | NSDHL | c.1088T>G (p.Val363Gly) c.1136T>G (p.Val379Gly) | |
X | g.152869083G>A | CA519182495 | NSDHL | c.1089G>A (p.Val363=) c.1137G>A (p.Val379=) | |
X | g.152869083G>C | CA519182496 | NSDHL | c.1089G>C (p.Val363=) c.1137G>C (p.Val379=) | |
X | g.152869083G>T | CA519182497 | NSDHL | c.1089G>T (p.Val363=) c.1137G>T (p.Val379=) | |
X | g.152869084C>A | CA415287673 | NSDHL | c.1090C>A (p.Gln364Lys) c.1138C>A (p.Gln380Lys) | |
X | g.152869084C>G | CA415287674 | NSDHL | c.1090C>G (p.Gln364Glu) c.1138C>G (p.Gln380Glu) | gnomAD v4 |
X | g.152869084C>T | CA415287675 | NSDHL | c.1090C>T (p.Gln364Ter) c.1138C>T (p.Gln380Ter) | |
X | g.152869085A>C | CA415287678 | NSDHL | c.1091A>C (p.Gln364Pro) c.1139A>C (p.Gln380Pro) | |
X | g.152869085A>G | CA415287676 | NSDHL | c.1091A>G (p.Gln364Arg) c.1139A>G (p.Gln380Arg) | |
X | g.152869085A>T | CA415287677 | NSDHL | c.1091A>T (p.Gln364Leu) c.1139A>T (p.Gln380Leu) | |
X | g.152869086G>A | CA519182499 | NSDHL | c.1092G>A (p.Gln364=) c.1140G>A (p.Gln380=) | |
X | g.152869086G>C | CA415287679 | NSDHL | c.1092G>C (p.Gln364His) c.1140G>C (p.Gln380His) | |
X | g.152869086G>T | CA415287680 | NSDHL | c.1092G>T (p.Gln364His) c.1140G>T (p.Gln380His) | |
X | g.152869087A= | CA2466154472 | NSDHL | c.1093A= (p.Ser365=) c.1141A= (p.Ser381=) | |
X | g.152869087A>C | CA415287681 | NSDHL | c.1093A>C (p.Ser365Arg) c.1141A>C (p.Ser381Arg) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152869087A>G | CA415287682 | NSDHL | c.1093A>G (p.Ser365Gly) c.1141A>G (p.Ser381Gly) | gnomAD v4 |
X | g.152869087A>T | CA415287683 | NSDHL | c.1093A>T (p.Ser365Cys) c.1141A>T (p.Ser381Cys) | |
X | g.152869088G>A | CA415287684 | NSDHL | c.1094G>A (p.Ser365Asn) c.1142G>A (p.Ser381Asn) | gnomAD v4 |
X | g.152869088G>C | CA415287685 | NSDHL | c.1094G>C (p.Ser365Thr) c.1142G>C (p.Ser381Thr) | |
X | g.152869088G>T | CA415287686 | NSDHL | c.1094G>T (p.Ser365Ile) c.1142G>T (p.Ser381Ile) | |
X | g.152869089C>A | CA415287687 | NSDHL | c.1095C>A (p.Ser365Arg) c.1143C>A (p.Ser381Arg) | |
X | g.152869089C= | CA2466154473 | NSDHL | c.1095C= (p.Ser365=) c.1143C= (p.Ser381=) | |
X | g.152869089C>G | CA415287688 | NSDHL | c.1095C>G (p.Ser365Arg) c.1143C>G (p.Ser381Arg) | |
X | g.152869089C>T | CA10544908 | NSDHL | c.1095C>T (p.Ser365=) c.1143C>T (p.Ser381=) | dbSNP ExAC gnomAD v2 |
X | g.152869090T>A | CA415287690 | NSDHL | c.1096T>A (p.Phe366Ile) c.1144T>A (p.Phe382Ile) | |
X | g.152869090T>C | CA415287691 | NSDHL | c.1096T>C (p.Phe366Leu) c.1144T>C (p.Phe382Leu) | gnomAD v4 |
X | g.152869090T>G | CA415287689 | NSDHL | c.1096T>G (p.Phe366Val) c.1144T>G (p.Phe382Val) | |
X | g.152869092dup | CA341816 | NSDHL | c.1098dup (p.Arg367SerfsTer?) c.1146dup (p.Arg383SerfsTer?) | ClinVar dbSNP |
X | g.152869091T>A | CA415287693 | NSDHL | c.1097T>A (p.Phe366Tyr) c.1145T>A (p.Phe382Tyr) | |
X | g.152869091T>C | CA415287692 | NSDHL | c.1097T>C (p.Phe366Ser) c.1145T>C (p.Phe382Ser) | |
X | g.152869091T>G | CA415287694 | NSDHL | c.1097T>G (p.Phe366Cys) c.1145T>G (p.Phe382Cys) | |
X | g.152869092T>A | CA415287695 | NSDHL | c.1098T>A (p.Phe366Leu) c.1146T>A (p.Phe382Leu) | |
X | g.152869092T>C | CA519182504 | NSDHL | c.1098T>C (p.Phe366=) c.1146T>C (p.Phe382=) | |
X | g.152869092T>G | CA415287696 | NSDHL | c.1098T>G (p.Phe366Leu) c.1146T>G (p.Phe382Leu) | |
X | g.152869093C>A | CA415287697 | NSDHL | c.1099C>A (p.Arg367Ser) c.1147C>A (p.Arg383Ser) | |
X | g.152869093C= | CA2466154474 | NSDHL | c.1099C= (p.Arg367=) c.1147C= (p.Arg383=) | |
X | g.152869093C>G | CA415287698 | NSDHL | c.1099C>G (p.Arg367Gly) c.1147C>G (p.Arg383Gly) | |
X | g.152869093C>T | CA10544909 | NSDHL | c.1099C>T (p.Arg367Cys) c.1147C>T (p.Arg383Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.152869094G>A | CA415287699 | NSDHL | c.1100G>A (p.Arg367His) c.1148G>A (p.Arg383His) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152869094G>C | CA415287700 | NSDHL | c.1100G>C (p.Arg367Pro) c.1148G>C (p.Arg383Pro) | |
X | g.152869094G= | CA2466154475 | NSDHL | c.1100G= (p.Arg367=) c.1148G= (p.Arg383=) | |
X | g.152869094G>T | CA415287701 | NSDHL | c.1100G>T (p.Arg367Leu) c.1148G>T (p.Arg383Leu) | |
X | g.152869095C>A | CA519182506 | NSDHL | c.1101C>A (p.Arg367=) c.1149C>A (p.Arg383=) | |
X | g.152869095C>G | CA519182507 | NSDHL | c.1101C>G (p.Arg367=) c.1149C>G (p.Arg383=) | gnomAD v4 |
X | g.152869095C>T | CA519182508 | NSDHL | c.1101C>T (p.Arg367=) c.1149C>T (p.Arg383=) | |
X | g.152869096C>A | CA415287702 | NSDHL | c.1102C>A (p.His368Asn) c.1150C>A (p.His384Asn) | |
X | g.152869096C>G | CA415287703 | NSDHL | c.1102C>G (p.His368Asp) c.1150C>G (p.His384Asp) | |
X | g.152869096C>T | CA415287704 | NSDHL | c.1102C>T (p.His368Tyr) c.1150C>T (p.His384Tyr) | |
X | g.152869097A>C | CA415287705 | NSDHL | c.1103A>C (p.His368Pro) c.1151A>C (p.His384Pro) | |
X | g.152869097A>G | CA415287706 | NSDHL | c.1103A>G (p.His368Arg) c.1151A>G (p.His384Arg) | |
X | g.152869097A>T | CA415287707 | NSDHL | c.1103A>T (p.His368Leu) c.1151A>T (p.His384Leu) | |
X | g.152869098C>A | CA415287708 | NSDHL | c.1104C>A (p.His368Gln) c.1152C>A (p.His384Gln) | gnomAD v4 |
X | g.152869098C>G | CA415287709 | NSDHL | c.1104C>G (p.His368Gln) c.1152C>G (p.His384Gln) | |
X | g.152869098C>T | CA519182513 | NSDHL | c.1104C>T (p.His368=) c.1152C>T (p.His384=) |