| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35284999G>A | CA340226 | HAMP | c.212G>A (p.Gly71Asp) n.2483G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35284999G>C | CA405301540 | HAMP | c.212G>C (p.Gly71Ala) n.2483G>C | |
| 19 | g.35284999G= | CA2333586128 | HAMP | c.212G= (p.Gly71=) n.2483G= | |
| 19 | g.35284999G>T | CA405301541 | HAMP | c.212G>T (p.Gly71Val) n.2483G>T | |
| 19 | g.35285000C>A | CA507041652 | HAMP | c.213C>A (p.Gly71=) n.2484C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35285000C= | CA2333586129 | HAMP | c.213C= (p.Gly71=) n.2484C= | |
| 19 | g.35285000C>G | CA507041654 | HAMP | c.213C>G (p.Gly71=) n.2484C>G | |
| 19 | g.35285000C>T | CA507041657 | HAMP | c.213C>T (p.Gly71=) n.2484C>T | COSMIC |
| 19 | g.35285001T>A | CA405301550 | HAMP | c.214T>A (p.Cys72Ser) n.2485T>A | |
| 19 | g.35285001T>C | CA405301552 | HAMP | c.214T>C (p.Cys72Arg) n.2485T>C | |
| 19 | g.35285001T>G | CA405301546 | HAMP | c.214T>G (p.Cys72Gly) n.2485T>G | |
| 19 | g.35285001_35285002delinsTG | CA2333586130 | HAMP | c.214_215delinsTG (p.Cys72=) n.2485_2486delinsTG | |
| 19 | g.35285002del | CA9375830 | HAMP | c.215del (p.Cys72SerfsTer?) n.2486del | dbSNP ExAC gnomAD v2 |
| 19 | g.35285002G>A | CA405301557 | HAMP | c.215G>A (p.Cys72Tyr) n.2486G>A | |
| 19 | g.35285002G>C | CA405301564 | HAMP | c.215G>C (p.Cys72Ser) n.2486G>C | |
| 19 | g.35285002G>T | CA405301566 | HAMP | c.215G>T (p.Cys72Phe) n.2486G>T | |
| 19 | g.35285003del | CA405301580 | HAMP | c.216del (p.Cys73ValfsTer?) n.2487del | |
| 19 | g.35285003C>A | CA333985 | HAMP | c.216C>A (p.Cys72Ter) n.2487C>A | ClinVar dbSNP |
| 19 | g.35285003C= | CA2333586131 | HAMP | c.216C= (p.Cys72=) n.2487C= | |
| 19 | g.35285003C>G | CA405301587 | HAMP | c.216C>G (p.Cys72Trp) n.2487C>G | |
| 19 | g.35285003C>T | CA9375831 | HAMP | c.216C>T (p.Cys72=) n.2487C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35285004T>A | CA405301590 | HAMP | c.217T>A (p.Cys73Ser) n.2488T>A | |
| 19 | g.35285004T>C | CA405301593 | HAMP | c.217T>C (p.Cys73Arg) n.2488T>C | |
| 19 | g.35285004T>G | CA405301596 | HAMP | c.217T>G (p.Cys73Gly) n.2488T>G | |
| 19 | g.35285005G>A | CA336010 | HAMP | c.218G>A (p.Cys73Tyr) n.2489G>A | ClinVar dbSNP |
| 19 | g.35285005G>C | CA405301599 | HAMP | c.218G>C (p.Cys73Ser) n.2489G>C | |
| 19 | g.35285005G= | CA2333586132 | HAMP | c.218G= (p.Cys73=) n.2489G= | |
| 19 | g.35285005G>T | CA405301605 | HAMP | c.218G>T (p.Cys73Phe) n.2489G>T | |
| 19 | g.35285006T>A | CA405301607 | HAMP | c.219T>A (p.Cys73Ter) n.2490T>A | |
| 19 | g.35285006T>C | CA507041701 | HAMP | c.219T>C (p.Cys73=) n.2490T>C | |
| 19 | g.35285006T>G | CA405301610 | HAMP | c.219T>G (p.Cys73Trp) n.2490T>G | |
| 19 | g.35285007C>A | CA405301613 | HAMP | c.220C>A (p.His74Asn) n.2491C>A | gnomAD v4 |
| 19 | g.35285007C>G | CA405301622 | HAMP | c.220C>G (p.His74Asp) n.2491C>G | |
| 19 | g.35285007C>T | CA405301616 | HAMP | c.220C>T (p.His74Tyr) n.2491C>T | COSMIC |
| 19 | g.35285008A= | CA2333586133 | HAMP | c.221A= (p.His74=) n.2492A= | |
| 19 | g.35285008A>C | CA405301629 | HAMP | c.221A>C (p.His74Pro) n.2492A>C | |
| 19 | g.35285008A>G | CA9375832 | HAMP | c.221A>G (p.His74Arg) n.2492A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35285008A>T | CA405301633 | HAMP | c.221A>T (p.His74Leu) n.2492A>T | |
| 19 | g.35285009T>A | CA405301639 | HAMP | c.222T>A (p.His74Gln) n.2493T>A | |
| 19 | g.35285009T>C | CA507041708 | HAMP | c.222T>C (p.His74=) n.2493T>C | |
| 19 | g.35285009T>G | CA405301640 | HAMP | c.222T>G (p.His74Gln) n.2493T>G | |
| 19 | g.35285010C>A | CA507041711 | HAMP | c.223C>A (p.Arg75=) n.2494C>A | |
| 19 | g.35285010C= | CA2333586134 | HAMP | c.223C= (p.Arg75=) n.2494C= | |
| 19 | g.35285010C>G | CA405301644 | HAMP | c.223C>G (p.Arg75Gly) n.2494C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35285010C>T | CA9375833 | HAMP | c.223C>T (p.Arg75Ter) n.2494C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35285011G>A | CA9375834 | HAMP | c.224G>A (p.Arg75Gln) n.2495G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35285011G>C | CA405301651 | HAMP | c.224G>C (p.Arg75Pro) n.2495G>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35285011G= | CA2333586135 | HAMP | c.224G= (p.Arg75=) n.2495G= | |
| 19 | g.35285011G>T | CA405301654 | HAMP | c.224G>T (p.Arg75Leu) n.2495G>T | |
| 19 | g.35285012A= | CA2333586136 | HAMP | c.225A= (p.Arg75=) n.2496A= |