Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35284821_35284823delinsCAG | CA2333586025 | HAMP | c.123_125delinsCAG (p.Asp41=) n.2305_2307delinsCAG | |
19 | g.35284822A>C | CA507041126 | HAMP | c.124A>C (p.Arg42=) n.2306A>C | |
19 | g.35284822A>G | CA405300708 | HAMP | c.124A>G (p.Arg42Gly) n.2306A>G | |
19 | g.35284822A>T | CA405300712 | HAMP | c.124A>T (p.Arg42Ter) n.2306A>T | |
19 | g.35284824_35284825del | CA881771442 | HAMP | c.126_127del (p.Arg42SerfsTer?) n.2308_2309del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35284823G>A | CA405300717 | HAMP | c.125G>A (p.Arg42Lys) n.2307G>A | |
19 | g.35284823G>C | CA405300725 | HAMP | c.125G>C (p.Arg42Thr) n.2307G>C | |
19 | g.35284823G>T | CA405300728 | HAMP | c.125G>T (p.Arg42Ile) n.2307G>T | |
19 | g.35284824A>C | CA405300731 | HAMP | c.126A>C (p.Arg42Ser) n.2308A>C | |
19 | g.35284824A>G | CA507041133 | HAMP | c.126A>G (p.Arg42=) n.2308A>G | |
19 | g.35284824A>T | CA405300734 | HAMP | c.126A>T (p.Arg42Ser) n.2308A>T | |
19 | g.35284825G>A | CA405300738 | HAMP | c.127G>A (p.Ala43Thr) n.2309G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35284825G>C | CA405300740 | HAMP | c.127G>C (p.Ala43Pro) n.2309G>C | |
19 | g.35284825G= | CA2333586026 | HAMP | c.127G= (p.Ala43=) n.2309G= | |
19 | g.35284825G>T | CA405300745 | HAMP | c.127G>T (p.Ala43Ser) n.2309G>T | |
19 | g.35284826C>A | CA405300748 | HAMP | c.128C>A (p.Ala43Asp) n.2310C>A | dbSNP |
19 | g.35284826C= | CA2333586027 | HAMP | c.128C= (p.Ala43=) n.2310C= | |
19 | g.35284826C>G | CA405300757 | HAMP | c.128C>G (p.Ala43Gly) n.2310C>G | gnomAD v4 |
19 | g.35284826C>T | CA9375795 | HAMP | c.128C>T (p.Ala43Val) n.2310C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35284827T>A | CA507041146 | HAMP | c.129T>A (p.Ala43=) n.2311T>A | |
19 | g.35284827T>C | CA507041148 | HAMP | c.129T>C (p.Ala43=) n.2311T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35284827T>G | CA507041151 | HAMP | c.129T>G (p.Ala43=) n.2311T>G | |
19 | g.35284827T= | CA2333586028 | HAMP | c.129T= (p.Ala43=) n.2311T= | |
19 | g.35284828G>A | CA405300763 | HAMP | c.130G>A (p.Gly44Arg) n.2312G>A | gnomAD v4 |
19 | g.35284828G>C | CA405300765 | HAMP | c.130G>C (p.Gly44Arg) n.2312G>C | |
19 | g.35284828G>T | CA405300760 | HAMP | c.130G>T (p.Gly44Ter) n.2312G>T | |
19 | g.35284829G>A | CA405300771 | HAMP | c.131G>A (p.Gly44Glu) n.2313G>A | |
19 | g.35284829G>C | CA405300770 | HAMP | c.131G>C (p.Gly44Ala) n.2313G>C | |
19 | g.35284829G>T | CA405300773 | HAMP | c.131G>T (p.Gly44Val) n.2313G>T | |
19 | g.35284830A>C | CA507041155 | HAMP | c.132A>C (p.Gly44=) n.2314A>C | |
19 | g.35284830A>G | CA507041158 | HAMP | c.132A>G (p.Gly44=) n.2314A>G | |
19 | g.35284830A>T | CA507041161 | HAMP | c.132A>T (p.Gly44=) n.2314A>T | gnomAD v4 |
19 | g.35284831G>A | CA307740143 | HAMP | c.133G>A (p.Ala45Thr) n.2315G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35284831G>C | CA405300779 | HAMP | c.133G>C (p.Ala45Pro) n.2315G>C | |
19 | g.35284831G= | CA2333586029 | HAMP | c.133G= (p.Ala45=) n.2315G= | |
19 | g.35284831G>T | CA405300786 | HAMP | c.133G>T (p.Ala45Ser) n.2315G>T | |
19 | g.35284832C>A | CA405300788 | HAMP | c.134C>A (p.Ala45Asp) n.2316C>A | |
19 | g.35284832C>G | CA405300791 | HAMP | c.134C>G (p.Ala45Gly) n.2316C>G | |
19 | g.35284832C>T | CA405300806 | HAMP | c.134C>T (p.Ala45Val) n.2316C>T | |
19 | g.35284833C>A | CA507041179 | HAMP | c.135C>A (p.Ala45=) n.2317C>A | |
19 | g.35284833C>G | CA507041181 | HAMP | c.135C>G (p.Ala45=) n.2317C>G | |
19 | g.35284833C>T | CA507041183 | HAMP | c.135C>T (p.Ala45=) n.2317C>T | |
19 | g.35284834A>C | CA507041186 | HAMP | c.136A>C (p.Arg46=) n.2318A>C | |
19 | g.35284834A>G | CA405300809 | HAMP | c.136A>G (p.Arg46Gly) n.2318A>G | |
19 | g.35284834A>T | CA405300813 | HAMP | c.136A>T (p.Arg46Trp) n.2318A>T | |
19 | g.35284835G>A | CA405300821 | HAMP | c.137G>A (p.Arg46Lys) n.2319G>A | |
19 | g.35284835G>C | CA405300828 | HAMP | c.137G>C (p.Arg46Thr) n.2319G>C | |
19 | g.35284835G>T | CA405300833 | HAMP | c.137G>T (p.Arg46Met) n.2319G>T | |
19 | g.35284836G>A | CA507041201 | HAMP | c.138G>A (p.Arg46=) n.2320G>A | ClinVar |
19 | g.35284836G>C | CA405300835 | HAMP | c.138G>C (p.Arg46Ser) n.2320G>C |