Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189565574A>C | CA349988973 | SLC40A1 | c.540T>G (p.Ile180Met) c.420T>G (p.Ile140Met) | |
2 | g.189565574A>G | CA430502810 | SLC40A1 | c.540T>C (p.Ile180=) c.420T>C (p.Ile140=) | |
2 | g.189565574A>T | CA430502812 | SLC40A1 | c.540T>A (p.Ile180=) c.420T>A (p.Ile140=) | |
2 | g.189565575A= | CA1315645090 | SLC40A1 | c.539T= (p.Ile180=) c.419T= (p.Ile140=) | |
2 | g.189565575A>C | CA349988974 | SLC40A1 | c.539T>G (p.Ile180Ser) c.419T>G (p.Ile140Ser) | |
2 | g.189565575A>G | CA2024197 | SLC40A1 | c.539T>C (p.Ile180Thr) c.419T>C (p.Ile140Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565575A>T | CA349988975 | SLC40A1 | c.539T>A (p.Ile180Asn) c.419T>A (p.Ile140Asn) | |
2 | g.189565576T>A | CA349988978 | SLC40A1 | c.538A>T (p.Ile180Phe) c.418A>T (p.Ile140Phe) | gnomAD v4 |
2 | g.189565576T>C | CA349988976 | SLC40A1 | c.538A>G (p.Ile180Val) c.418A>G (p.Ile140Val) | |
2 | g.189565576T>G | CA349988977 | SLC40A1 | c.538A>C (p.Ile180Leu) c.418A>C (p.Ile140Leu) | |
2 | g.189565577C>A | CA349988979 | SLC40A1 | c.537G>T (p.Arg179Ser) c.417G>T (p.Arg139Ser) | |
2 | g.189565577C>G | CA349988980 | SLC40A1 | c.537G>C (p.Arg179Ser) c.417G>C (p.Arg139Ser) | |
2 | g.189565577C>T | CA430502821 | SLC40A1 | c.537G>A (p.Arg179=) c.417G>A (p.Arg139=) | gnomAD v4 |
2 | g.189565578C>A | CA349988981 | SLC40A1 | c.536G>T (p.Arg179Met) c.416G>T (p.Arg139Met) | |
2 | g.189565578C= | CA1315645096 | SLC40A1 | c.536G= (p.Arg179=) c.416G= (p.Arg139=) | |
2 | g.189565578C>G | CA2024198 | SLC40A1 | c.536G>C (p.Arg179Thr) c.416G>C (p.Arg139Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565578C>T | CA349988982 | SLC40A1 | c.536G>A (p.Arg179Lys) c.416G>A (p.Arg139Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565579T>A | CA349988983 | SLC40A1 | c.535A>T (p.Arg179Trp) c.415A>T (p.Arg139Trp) | |
2 | g.189565579T>C | CA349988984 | SLC40A1 | c.535A>G (p.Arg179Gly) c.415A>G (p.Arg139Gly) | |
2 | g.189565579T>G | CA430502828 | SLC40A1 | c.535A>C (p.Arg179=) c.415A>C (p.Arg139=) | |
2 | g.189565580T>A | CA430502831 | SLC40A1 | c.534A>T (p.Arg178=) c.414A>T (p.Arg138=) | |
2 | g.189565580T>C | CA430502833 | SLC40A1 | c.534A>G (p.Arg178=) c.414A>G (p.Arg138=) | |
2 | g.189565580T>G | CA430502836 | SLC40A1 | c.534A>C (p.Arg178=) c.414A>C (p.Arg138=) | |
2 | g.189565581C>A | CA349988985 | SLC40A1 | c.533G>T (p.Arg178Leu) c.413G>T (p.Arg138Leu) | |
2 | g.189565581C= | CA1315645101 | SLC40A1 | c.533G= (p.Arg178=) c.413G= (p.Arg138=) | |
2 | g.189565581C>G | CA349988986 | SLC40A1 | c.533G>C (p.Arg178Pro) c.413G>C (p.Arg138Pro) | |
2 | g.189565581C>T | CA349988987 | SLC40A1 | c.533G>A (p.Arg178Gln) c.413G>A (p.Arg138Gln) | ClinVar dbSNP |
2 | g.189565582G>A | CA62903062 | SLC40A1 | c.532C>T (p.Arg178Ter) c.412C>T (p.Arg138Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189565582G>C | CA349988988 | SLC40A1 | c.532C>G (p.Arg178Gly) c.412C>G (p.Arg138Gly) | ClinVar dbSNP |
2 | g.189565582G= | CA1315645107 | SLC40A1 | c.532C= (p.Arg178=) c.412C= (p.Arg138=) | |
2 | g.189565582G>T | CA430502843 | SLC40A1 | c.532C>A (p.Arg178=) c.412C>A (p.Arg138=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565583T>A | CA430502845 | SLC40A1 | c.531A>T (p.Ile177=) c.411A>T (p.Ile137=) | |
2 | g.189565583T>C | CA349988989 | SLC40A1 | c.531A>G (p.Ile177Met) c.411A>G (p.Ile137Met) | COSMIC |
2 | g.189565583T>G | CA430502846 | SLC40A1 | c.531A>C (p.Ile177=) c.411A>C (p.Ile137=) | |
2 | g.189565584A>C | CA349988990 | SLC40A1 | c.530T>G (p.Ile177Arg) c.410T>G (p.Ile137Arg) | |
2 | g.189565584A>G | CA349988992 | SLC40A1 | c.530T>C (p.Ile177Thr) c.410T>C (p.Ile137Thr) | |
2 | g.189565584A>T | CA349988991 | SLC40A1 | c.530T>A (p.Ile177Lys) c.410T>A (p.Ile137Lys) | |
2 | g.189565585T>A | CA349988993 | SLC40A1 | c.529A>T (p.Ile177Leu) c.409A>T (p.Ile137Leu) | |
2 | g.189565585T>C | CA349988994 | SLC40A1 | c.529A>G (p.Ile177Val) c.409A>G (p.Ile137Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565585T>G | CA349988995 | SLC40A1 | c.529A>C (p.Ile177Leu) c.409A>C (p.Ile137Leu) | |
2 | g.189565585T= | CA1315645109 | SLC40A1 | c.529A= (p.Ile177=) c.409A= (p.Ile137=) | |
2 | g.189565586T>A | CA430502851 | SLC40A1 | c.528A>T (p.Thr176=) c.408A>T (p.Thr136=) | |
2 | g.189565586T>C | CA2024199 | SLC40A1 | c.528A>G (p.Thr176=) c.408A>G (p.Thr136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565586T>G | CA430502853 | SLC40A1 | c.528A>C (p.Thr176=) c.408A>C (p.Thr136=) | |
2 | g.189565586T= | CA1315645111 | SLC40A1 | c.528A= (p.Thr176=) c.408A= (p.Thr136=) | |
2 | g.189565587G>A | CA349988996 | SLC40A1 | c.527C>T (p.Thr176Ile) c.407C>T (p.Thr136Ile) | |
2 | g.189565587G>C | CA349988997 | SLC40A1 | c.527C>G (p.Thr176Arg) c.407C>G (p.Thr136Arg) | |
2 | g.189565587G>T | CA349988998 | SLC40A1 | c.527C>A (p.Thr176Lys) c.407C>A (p.Thr136Lys) | |
2 | g.189565588T>A | CA349988999 | SLC40A1 | c.526A>T (p.Thr176Ser) c.406A>T (p.Thr136Ser) | |
2 | g.189565588T>C | CA349989001 | SLC40A1 | c.526A>G (p.Thr176Ala) c.406A>G (p.Thr136Ala) | dbSNP gnomAD v2 |