Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35284808T>A | CA405300586 | HAMP | c.110T>A (p.Leu37Gln) n.2292T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35284808T>C | CA405300584 | HAMP | c.110T>C (p.Leu37Pro) n.2292T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35284808T>G | CA405300585 | HAMP | c.110T>G (p.Leu37Arg) n.2292T>G | |
19 | g.35284808T= | CA2333586018 | HAMP | c.110T= (p.Leu37=) n.2292T= | |
19 | g.35284809G>A | CA507041026 | HAMP | c.111G>A (p.Leu37=) n.2293G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35284809G>C | CA507041029 | HAMP | c.111G>C (p.Leu37=) n.2293G>C | |
19 | g.35284809G= | CA2333586019 | HAMP | c.111G= (p.Leu37=) n.2293G= | |
19 | g.35284809G>T | CA507041032 | HAMP | c.111G>T (p.Leu37=) n.2293G>T | |
19 | g.35284810C>A | CA405300587 | HAMP | c.112C>A (p.Gln38Lys) n.2294C>A | |
19 | g.35284810C>G | CA405300588 | HAMP | c.112C>G (p.Gln38Glu) n.2294C>G | |
19 | g.35284810C>T | CA405300590 | HAMP | c.112C>T (p.Gln38Ter) n.2294C>T | |
19 | g.35284811A>C | CA405300593 | HAMP | c.113A>C (p.Gln38Pro) n.2295A>C | |
19 | g.35284811A>G | CA405300598 | HAMP | c.113A>G (p.Gln38Arg) n.2295A>G | |
19 | g.35284811A>T | CA405300601 | HAMP | c.113A>T (p.Gln38Leu) n.2295A>T | |
19 | g.35284812del | CA2695228583 | HAMP | c.114del (p.Gln38HisfsTer?) n.2296del | |
19 | g.35284812A= | CA2333586020 | HAMP | c.114A= (p.Gln38=) n.2296A= | |
19 | g.35284812A>C | CA405300606 | HAMP | c.114A>C (p.Gln38His) n.2296A>C | |
19 | g.35284812A>G | CA507041061 | HAMP | c.114A>G (p.Gln38=) n.2296A>G | ClinVar dbSNP |
19 | g.35284812A>T | CA405300610 | HAMP | c.114A>T (p.Gln38His) n.2296A>T | |
19 | g.35284813C>A | CA405300614 | HAMP | c.115C>A (p.Pro39Thr) n.2297C>A | |
19 | g.35284813C= | CA2333586021 | HAMP | c.115C= (p.Pro39=) n.2297C= | |
19 | g.35284813C>G | CA405300617 | HAMP | c.115C>G (p.Pro39Ala) n.2297C>G | |
19 | g.35284813C>T | CA9375793 | HAMP | c.115C>T (p.Pro39Ser) n.2297C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35284814C>A | CA405300626 | HAMP | c.116C>A (p.Pro39His) n.2298C>A | gnomAD v4 |
19 | g.35284814C>G | CA405300628 | HAMP | c.116C>G (p.Pro39Arg) n.2298C>G | |
19 | g.35284814C>T | CA405300624 | HAMP | c.116C>T (p.Pro39Leu) n.2298C>T | gnomAD v4 |
19 | g.35284815C>A | CA507041078 | HAMP | c.117C>A (p.Pro39=) n.2299C>A | |
19 | g.35284815C= | CA2333586022 | HAMP | c.117C= (p.Pro39=) n.2299C= | |
19 | g.35284815C>G | CA507041081 | HAMP | c.117C>G (p.Pro39=) n.2299C>G | |
19 | g.35284815C>T | CA9375794 | HAMP | c.117C>T (p.Pro39=) n.2299C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35284816C>A | CA405300640 | HAMP | c.118C>A (p.Gln40Lys) n.2300C>A | |
19 | g.35284816C>G | CA405300649 | HAMP | c.118C>G (p.Gln40Glu) n.2300C>G | |
19 | g.35284816C>T | CA405300655 | HAMP | c.118C>T (p.Gln40Ter) n.2300C>T | |
19 | g.35284817A= | CA2333586023 | HAMP | c.119A= (p.Gln40=) n.2301A= | |
19 | g.35284817A>C | CA405300658 | HAMP | c.119A>C (p.Gln40Pro) n.2301A>C | dbSNP |
19 | g.35284817A>G | CA405300659 | HAMP | c.119A>G (p.Gln40Arg) n.2301A>G | dbSNP gnomAD v4 |
19 | g.35284817A>T | CA405300660 | HAMP | c.119A>T (p.Gln40Leu) n.2301A>T | |
19 | g.35284818G>A | CA507041096 | HAMP | c.120G>A (p.Gln40=) n.2302G>A | |
19 | g.35284818G>C | CA405300662 | HAMP | c.120G>C (p.Gln40His) n.2302G>C | |
19 | g.35284818G>T | CA405300664 | HAMP | c.120G>T (p.Gln40His) n.2302G>T | |
19 | g.35284819G>A | CA405300667 | HAMP | c.121G>A (p.Asp41Asn) n.2303G>A | dbSNP gnomAD v4 |
19 | g.35284819G>C | CA405300677 | HAMP | c.121G>C (p.Asp41His) n.2303G>C | |
19 | g.35284819G= | CA2333586024 | HAMP | c.121G= (p.Asp41=) n.2303G= | |
19 | g.35284819G>T | CA405300690 | HAMP | c.121G>T (p.Asp41Tyr) n.2303G>T | |
19 | g.35284820A>C | CA405300696 | HAMP | c.122A>C (p.Asp41Ala) n.2304A>C | |
19 | g.35284820A>G | CA405300699 | HAMP | c.122A>G (p.Asp41Gly) n.2304A>G | |
19 | g.35284820A>T | CA405300694 | HAMP | c.122A>T (p.Asp41Val) n.2304A>T | |
19 | g.35284821C>A | CA405300702 | HAMP | c.123C>A (p.Asp41Glu) n.2305C>A | |
19 | g.35284821C>G | CA405300703 | HAMP | c.123C>G (p.Asp41Glu) n.2305C>G | |
19 | g.35284821C>T | CA507041122 | HAMP | c.123C>T (p.Asp41=) n.2305C>T |