Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.44934396A>C | CA389557590 | KLHL28 | c.1062T>G (p.Asn354Lys) c.1104T>G (p.Asn368Lys) | |
14 | g.44934396A>G | CA486343088 | KLHL28 | c.1062T>C (p.Asn354=) c.1104T>C (p.Asn368=) | |
14 | g.44934396A>T | CA389557592 | KLHL28 | c.1062T>A (p.Asn354Lys) c.1104T>A (p.Asn368Lys) | |
14 | g.44934397T>A | CA389557598 | KLHL28 | c.1061A>T (p.Asn354Ile) c.1103A>T (p.Asn368Ile) | |
14 | g.44934397T>C | CA389557595 | KLHL28 | c.1061A>G (p.Asn354Ser) c.1103A>G (p.Asn368Ser) | |
14 | g.44934397T>G | CA389557597 | KLHL28 | c.1061A>C (p.Asn354Thr) c.1103A>C (p.Asn368Thr) | |
14 | g.44934398T>A | CA7166642 | KLHL28 | c.1060A>T (p.Asn354Tyr) c.1102A>T (p.Asn368Tyr) | dbSNP ExAC |
14 | g.44934398T>C | CA389557603 | KLHL28 | c.1060A>G (p.Asn354Asp) c.1102A>G (p.Asn368Asp) | |
14 | g.44934398T>G | CA389557604 | KLHL28 | c.1060A>C (p.Asn354His) c.1102A>C (p.Asn368His) | |
14 | g.44934398T= | CA2133508270 | KLHL28 | c.1060A= (p.Asn354=) c.1102A= (p.Asn368=) | |
14 | g.44934399T>A | CA389557606 | KLHL28 | c.1059A>T (p.Glu353Asp) c.1101A>T (p.Glu367Asp) | |
14 | g.44934399T>C | CA486343090 | KLHL28 | c.1059A>G (p.Glu353=) c.1101A>G (p.Glu367=) | |
14 | g.44934399T>G | CA389557609 | KLHL28 | c.1059A>C (p.Glu353Asp) c.1101A>C (p.Glu367Asp) | |
14 | g.44934400T>A | CA389557611 | KLHL28 | c.1058A>T (p.Glu353Val) c.1100A>T (p.Glu367Val) | |
14 | g.44934400T>C | CA389557612 | KLHL28 | c.1058A>G (p.Glu353Gly) c.1100A>G (p.Glu367Gly) | gnomAD v4 |
14 | g.44934400T>G | CA389557614 | KLHL28 | c.1058A>C (p.Glu353Ala) c.1100A>C (p.Glu367Ala) | |
14 | g.44934401C>A | CA389557619 | KLHL28 | c.1057G>T (p.Glu353Ter) c.1099G>T (p.Glu367Ter) | |
14 | g.44934401C>G | CA389557623 | KLHL28 | c.1057G>C (p.Glu353Gln) c.1099G>C (p.Glu367Gln) | |
14 | g.44934401C>T | CA389557624 | KLHL28 | c.1057G>A (p.Glu353Lys) c.1099G>A (p.Glu367Lys) | |
14 | g.44934402A>C | CA389557625 | KLHL28 | c.1056T>G (p.His352Gln) c.1098T>G (p.His366Gln) | gnomAD v4 |
14 | g.44934402A>G | CA486343095 | KLHL28 | c.1056T>C (p.His352=) c.1098T>C (p.His366=) | gnomAD v4 |
14 | g.44934402A>T | CA389557627 | KLHL28 | c.1056T>A (p.His352Gln) c.1098T>A (p.His366Gln) | |
14 | g.44934403T>A | CA389557633 | KLHL28 | c.1055A>T (p.His352Leu) c.1097A>T (p.His366Leu) | |
14 | g.44934403T>C | CA389557629 | KLHL28 | c.1055A>G (p.His352Arg) c.1097A>G (p.His366Arg) | gnomAD v4 |
14 | g.44934403T>G | CA389557631 | KLHL28 | c.1055A>C (p.His352Pro) c.1097A>C (p.His366Pro) | |
14 | g.44934404G>A | CA389557634 | KLHL28 | c.1054C>T (p.His352Tyr) c.1096C>T (p.His366Tyr) | |
14 | g.44934404G>C | CA389557636 | KLHL28 | c.1054C>G (p.His352Asp) c.1096C>G (p.His366Asp) | |
14 | g.44934404G>T | CA389557639 | KLHL28 | c.1054C>A (p.His352Asn) c.1096C>A (p.His366Asn) | |
14 | g.44934405T>A | CA389557641 | KLHL28 | c.1053A>T (p.Lys351Asn) c.1095A>T (p.Lys365Asn) | |
14 | g.44934405T>C | CA486343097 | KLHL28 | c.1053A>G (p.Lys351=) c.1095A>G (p.Lys365=) | |
14 | g.44934405T>G | CA389557643 | KLHL28 | c.1053A>C (p.Lys351Asn) c.1095A>C (p.Lys365Asn) | |
14 | g.44934406T>A | CA389557644 | KLHL28 | c.1052A>T (p.Lys351Ile) c.1094A>T (p.Lys365Ile) | |
14 | g.44934406T>C | CA389557646 | KLHL28 | c.1052A>G (p.Lys351Arg) c.1094A>G (p.Lys365Arg) | |
14 | g.44934406T>G | CA389557647 | KLHL28 | c.1052A>C (p.Lys351Thr) c.1094A>C (p.Lys365Thr) | |
14 | g.44934407T>A | CA389557649 | KLHL28 | c.1051A>T (p.Lys351Ter) c.1093A>T (p.Lys365Ter) | |
14 | g.44934407T>C | CA389557650 | KLHL28 | c.1051A>G (p.Lys351Glu) c.1093A>G (p.Lys365Glu) | |
14 | g.44934407T>G | CA389557653 | KLHL28 | c.1051A>C (p.Lys351Gln) c.1093A>C (p.Lys365Gln) | |
14 | g.44934408T>A | CA389557655 | KLHL28 | c.1050A>T (p.Arg350Ser) c.1092A>T (p.Arg364Ser) | |
14 | g.44934408T>C | CA486343099 | KLHL28 | c.1050A>G (p.Arg350=) c.1092A>G (p.Arg364=) | |
14 | g.44934408T>G | CA389557657 | KLHL28 | c.1050A>C (p.Arg350Ser) c.1092A>C (p.Arg364Ser) | |
14 | g.44934409C>A | CA389557662 | KLHL28 | c.1049G>T (p.Arg350Ile) c.1091G>T (p.Arg364Ile) | |
14 | g.44934409C>G | CA389557661 | KLHL28 | c.1049G>C (p.Arg350Thr) c.1091G>C (p.Arg364Thr) | |
14 | g.44934409C>T | CA389557658 | KLHL28 | c.1049G>A (p.Arg350Lys) c.1091G>A (p.Arg364Lys) | |
14 | g.44934410T>A | CA389557665 | KLHL28 | c.1048A>T (p.Arg350Ter) c.1090A>T (p.Arg364Ter) | |
14 | g.44934410T>C | CA389557666 | KLHL28 | c.1048A>G (p.Arg350Gly) c.1090A>G (p.Arg364Gly) | |
14 | g.44934410T>G | CA486343101 | KLHL28 | c.1048A>C (p.Arg350=) c.1090A>C (p.Arg364=) | |
14 | g.44934411G>A | CA486343102 | KLHL28 | c.1047C>T (p.Ile349=) c.1089C>T (p.Ile363=) | |
14 | g.44934411G>C | CA389557667 | KLHL28 | c.1047C>G (p.Ile349Met) c.1089C>G (p.Ile363Met) | |
14 | g.44934411G>T | CA486343103 | KLHL28 | c.1047C>A (p.Ile349=) c.1089C>A (p.Ile363=) | |
14 | g.44934412A>C | CA389557669 | KLHL28 | c.1046T>G (p.Ile349Ser) c.1088T>G (p.Ile363Ser) |