| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189575193C>A | CA117527 | SLC40A1 | c.239G>T (p.Gly80Val) n.680G>T n.520G>T c.119G>T (p.Gly40Val) | ClinVar dbSNP |
| 2 | g.189575193C= | CA1315653665 | SLC40A1 | c.239G= (p.Gly80=) n.680G= n.520G= c.119G= (p.Gly40=) | |
| 2 | g.189575193C>G | CA349989666 | SLC40A1 | c.239G>C (p.Gly80Ala) n.680G>C n.520G>C c.119G>C (p.Gly40Ala) | |
| 2 | g.189575193C>T | CA349989667 | SLC40A1 | c.239G>A (p.Gly80Asp) n.680G>A n.520G>A c.119G>A (p.Gly40Asp) | |
| 2 | g.189575194C>A | CA349989668 | SLC40A1 | c.238G>T (p.Gly80Cys) n.679G>T n.519G>T c.118G>T (p.Gly40Cys) | ClinVar |
| 2 | g.189575194C= | CA1315653669 | SLC40A1 | c.238G= (p.Gly80=) n.679G= n.519G= c.118G= (p.Gly40=) | |
| 2 | g.189575194C>G | CA349989669 | SLC40A1 | c.238G>C (p.Gly80Arg) n.679G>C n.519G>C c.118G>C (p.Gly40Arg) | |
| 2 | g.189575194C>T | CA62904035 | SLC40A1 | c.238G>A (p.Gly80Ser) n.679G>A n.519G>A c.118G>A (p.Gly40Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189575195G>A | CA2024280 | SLC40A1 | c.237C>T (p.Ile79=) n.678C>T n.518C>T c.117C>T (p.Ile39=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.189575195G>C | CA349989670 | SLC40A1 | c.237C>G (p.Ile79Met) n.678C>G n.518C>G c.117C>G (p.Ile39Met) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189575195G= | CA1315653674 | SLC40A1 | c.237C= (p.Ile79=) n.678C= n.518C= c.117C= (p.Ile39=) | |
| 2 | g.189575195G>T | CA430367502 | SLC40A1 | c.237C>A (p.Ile79=) n.678C>A n.518C>A c.117C>A (p.Ile39=) | |
| 2 | g.189575196A>C | CA349989671 | SLC40A1 | c.236T>G (p.Ile79Ser) n.677T>G n.517T>G c.116T>G (p.Ile39Ser) | |
| 2 | g.189575196A>G | CA349989672 | SLC40A1 | c.236T>C (p.Ile79Thr) n.677T>C n.517T>C c.116T>C (p.Ile39Thr) | |
| 2 | g.189575196A>T | CA349989673 | SLC40A1 | c.236T>A (p.Ile79Asn) n.677T>A n.517T>A c.116T>A (p.Ile39Asn) | |
| 2 | g.189575197T>A | CA349989676 | SLC40A1 | c.235A>T (p.Ile79Phe) n.676A>T n.516A>T c.115A>T (p.Ile39Phe) | |
| 2 | g.189575197T>C | CA349989674 | SLC40A1 | c.235A>G (p.Ile79Val) n.676A>G n.516A>G c.115A>G (p.Ile39Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189575197T>G | CA349989675 | SLC40A1 | c.235A>C (p.Ile79Leu) n.676A>C n.516A>C c.115A>C (p.Ile39Leu) | |
| 2 | g.189575197T= | CA1315653679 | SLC40A1 | c.235A= (p.Ile79=) n.676A= n.516A= c.115A= (p.Ile39=) | |
| 2 | g.189575198G>A | CA430367503 | SLC40A1 | c.234C>T (p.Ile78=) n.675C>T n.515C>T c.114C>T (p.Ile38=) | dbSNP |
| 2 | g.189575198G>C | CA349989677 | SLC40A1 | c.234C>G (p.Ile78Met) n.675C>G n.515C>G c.114C>G (p.Ile38Met) | |
| 2 | g.189575198G= | CA1315653684 | SLC40A1 | c.234C= (p.Ile78=) n.675C= n.515C= c.114C= (p.Ile38=) | |
| 2 | g.189575198G>T | CA430367504 | SLC40A1 | c.234C>A (p.Ile78=) n.675C>A n.515C>A c.114C>A (p.Ile38=) | |
| 2 | g.189575199A>C | CA349989678 | SLC40A1 | c.233T>G (p.Ile78Ser) n.674T>G n.514T>G c.113T>G (p.Ile38Ser) | |
| 2 | g.189575199A>G | CA349989679 | SLC40A1 | c.233T>C (p.Ile78Thr) n.674T>C n.514T>C c.113T>C (p.Ile38Thr) | |
| 2 | g.189575199A>T | CA349989680 | SLC40A1 | c.233T>A (p.Ile78Asn) n.674T>A n.514T>A c.113T>A (p.Ile38Asn) | |
| 2 | g.189575200T>A | CA349989681 | SLC40A1 | c.232A>T (p.Ile78Phe) n.673A>T n.513A>T c.112A>T (p.Ile38Phe) | |
| 2 | g.189575200T>C | CA349989682 | SLC40A1 | c.232A>G (p.Ile78Val) n.673A>G n.513A>G c.112A>G (p.Ile38Val) | gnomAD v4 |
| 2 | g.189575200T>G | CA349989683 | SLC40A1 | c.232A>C (p.Ile78Leu) n.673A>C n.513A>C c.112A>C (p.Ile38Leu) | |
| 2 | g.189575201G>A | CA430367505 | SLC40A1 | c.231C>T (p.Ala77=) n.672C>T n.512C>T c.111C>T (p.Ala37=) | |
| 2 | g.189575201G>C | CA430367506 | SLC40A1 | c.231C>G (p.Ala77=) n.672C>G n.512C>G c.111C>G (p.Ala37=) | |
| 2 | g.189575201G>T | CA430367507 | SLC40A1 | c.231C>A (p.Ala77=) n.672C>A n.512C>A c.111C>A (p.Ala37=) | |
| 2 | g.189575202G>A | CA349989684 | SLC40A1 | c.230C>T (p.Ala77Val) n.671C>T n.511C>T c.110C>T (p.Ala37Val) | |
| 2 | g.189575202G>C | CA349989685 | SLC40A1 | c.230C>G (p.Ala77Gly) n.671C>G n.511C>G c.110C>G (p.Ala37Gly) | COSMIC |
| 2 | g.189575202G= | CA1315653689 | SLC40A1 | c.230C= (p.Ala77=) n.671C= n.511C= c.110C= (p.Ala37=) | |
| 2 | g.189575202G>T | CA117517 | SLC40A1 | c.230C>A (p.Ala77Asp) n.671C>A n.511C>A c.110C>A (p.Ala37Asp) | ClinVar dbSNP |
| 2 | g.189575203C>A | CA349989686 | SLC40A1 | c.229G>T (p.Ala77Ser) n.670G>T n.510G>T c.109G>T (p.Ala37Ser) | |
| 2 | g.189575203C= | CA1315653694 | SLC40A1 | c.229G= (p.Ala77=) n.670G= n.510G= c.109G= (p.Ala37=) | |
| 2 | g.189575203C>G | CA349989687 | SLC40A1 | c.229G>C (p.Ala77Pro) n.670G>C n.510G>C c.109G>C (p.Ala37Pro) | |
| 2 | g.189575203C>T | CA62904036 | SLC40A1 | c.229G>A (p.Ala77Thr) n.670G>A n.510G>A c.109G>A (p.Ala37Thr) | dbSNP |
| 2 | g.189575204T>A | CA430367508 | SLC40A1 | c.228A>T (p.Gly76=) n.669A>T n.509A>T c.108A>T (p.Gly36=) | |
| 2 | g.189575204T>C | CA430367509 | SLC40A1 | c.228A>G (p.Gly76=) n.669A>G n.509A>G c.108A>G (p.Gly36=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189575204T>G | CA430367510 | SLC40A1 | c.228A>C (p.Gly76=) n.669A>C n.509A>C c.108A>C (p.Gly36=) | |
| 2 | g.189575204T= | CA1315653696 | SLC40A1 | c.228A= (p.Gly76=) n.669A= n.509A= c.108A= (p.Gly36=) | |
| 2 | g.189575205C>A | CA349989690 | SLC40A1 | c.227G>T (p.Gly76Val) n.668G>T n.508G>T c.107G>T (p.Gly36Val) | |
| 2 | g.189575205C>G | CA349989689 | SLC40A1 | c.227G>C (p.Gly76Ala) n.668G>C n.508G>C c.107G>C (p.Gly36Ala) | |
| 2 | g.189575205C>T | CA349989688 | SLC40A1 | c.227G>A (p.Gly76Glu) n.668G>A n.508G>A c.107G>A (p.Gly36Glu) | COSMIC |
| 2 | g.189575206C>A | CA349989691 | SLC40A1 | c.226G>T (p.Gly76Ter) n.667G>T n.507G>T c.106G>T (p.Gly36Ter) | |
| 2 | g.189575206C>G | CA349989692 | SLC40A1 | c.226G>C (p.Gly76Arg) n.667G>C n.507G>C c.106G>C (p.Gly36Arg) | |
| 2 | g.189575206C>T | CA349989693 | SLC40A1 | c.226G>A (p.Gly76Arg) n.667G>A n.507G>A c.106G>A (p.Gly36Arg) |