Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189565474C>A | CA349988752 | SLC40A1 | c.640G>T (p.Val214Leu) c.520G>T (p.Val174Leu) | |
2 | g.189565474C>G | CA349988753 | SLC40A1 | c.640G>C (p.Val214Leu) c.520G>C (p.Val174Leu) | |
2 | g.189565474C>T | CA349988751 | SLC40A1 | c.640G>A (p.Val214Ile) c.520G>A (p.Val174Ile) | |
2 | g.189565475del | CA430502615 | SLC40A1 | c.640del (p.Val214TyrfsTer20) c.520del (p.Val174TyrfsTer20) | |
2 | g.189565475C>A | CA349988754 | SLC40A1 | c.639G>T (p.Leu213Phe) c.519G>T (p.Leu173Phe) | |
2 | g.189565475C>G | CA349988755 | SLC40A1 | c.639G>C (p.Leu213Phe) c.519G>C (p.Leu173Phe) | gnomAD v4 |
2 | g.189565475C>T | CA430502617 | SLC40A1 | c.639G>A (p.Leu213=) c.519G>A (p.Leu173=) | dbSNP |
2 | g.189565476A>C | CA349988756 | SLC40A1 | c.638T>G (p.Leu213Trp) c.518T>G (p.Leu173Trp) | |
2 | g.189565476A>G | CA349988757 | SLC40A1 | c.638T>C (p.Leu213Ser) c.518T>C (p.Leu173Ser) | |
2 | g.189565476A>T | CA349988758 | SLC40A1 | c.638T>A (p.Leu213Ter) c.518T>A (p.Leu173Ter) | |
2 | g.189565477A>C | CA349988759 | SLC40A1 | c.637T>G (p.Leu213Val) c.517T>G (p.Leu173Val) | |
2 | g.189565477A>G | CA430502620 | SLC40A1 | c.637T>C (p.Leu213=) c.517T>C (p.Leu173=) | |
2 | g.189565477A>T | CA349988760 | SLC40A1 | c.637T>A (p.Leu213Met) c.517T>A (p.Leu173Met) | |
2 | g.189565478G>A | CA430502622 | SLC40A1 | c.636C>T (p.Asn212=) c.516C>T (p.Asn172=) | |
2 | g.189565478G>C | CA349988761 | SLC40A1 | c.636C>G (p.Asn212Lys) c.516C>G (p.Asn172Lys) | |
2 | g.189565478G>T | CA349988762 | SLC40A1 | c.636C>A (p.Asn212Lys) c.516C>A (p.Asn172Lys) | |
2 | g.189565479T>A | CA349988763 | SLC40A1 | c.635A>T (p.Asn212Ile) c.515A>T (p.Asn172Ile) | |
2 | g.189565479T>C | CA349988764 | SLC40A1 | c.635A>G (p.Asn212Ser) c.515A>G (p.Asn172Ser) | |
2 | g.189565479T>G | CA349988765 | SLC40A1 | c.635A>C (p.Asn212Thr) c.515A>C (p.Asn172Thr) | |
2 | g.189565480T>A | CA349988768 | SLC40A1 | c.634A>T (p.Asn212Tyr) c.514A>T (p.Asn172Tyr) | |
2 | g.189565480T>C | CA349988766 | SLC40A1 | c.634A>G (p.Asn212Asp) c.514A>G (p.Asn172Asp) | |
2 | g.189565480T>G | CA349988767 | SLC40A1 | c.634A>C (p.Asn212His) c.514A>C (p.Asn172His) | |
2 | g.189565481C>A | CA349988769 | SLC40A1 | c.633G>T (p.Trp211Cys) c.513G>T (p.Trp171Cys) | |
2 | g.189565481C>G | CA349988770 | SLC40A1 | c.633G>C (p.Trp211Cys) c.513G>C (p.Trp171Cys) | |
2 | g.189565481C>T | CA349988771 | SLC40A1 | c.633G>A (p.Trp211Ter) c.513G>A (p.Trp171Ter) | COSMIC |
2 | g.189565482C>A | CA349988772 | SLC40A1 | c.632G>T (p.Trp211Leu) c.512G>T (p.Trp171Leu) | |
2 | g.189565482C= | CA1315655856 | SLC40A1 | c.632G= (p.Trp211=) c.512G= (p.Trp171=) | |
2 | g.189565482C>G | CA349988773 | SLC40A1 | c.632G>C (p.Trp211Ser) c.512G>C (p.Trp171Ser) | |
2 | g.189565482C>T | CA349988774 | SLC40A1 | c.632G>A (p.Trp211Ter) c.512G>A (p.Trp171Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565483A>C | CA349988775 | SLC40A1 | c.631T>G (p.Trp211Gly) c.511T>G (p.Trp171Gly) | |
2 | g.189565483A>G | CA349988776 | SLC40A1 | c.631T>C (p.Trp211Arg) c.511T>C (p.Trp171Arg) | |
2 | g.189565483A>T | CA349988777 | SLC40A1 | c.631T>A (p.Trp211Arg) c.511T>A (p.Trp171Arg) | |
2 | g.189565484T>A | CA430502630 | SLC40A1 | c.630A>T (p.Gly210=) c.510A>T (p.Gly170=) | |
2 | g.189565484T>C | CA2024188 | SLC40A1 | c.630A>G (p.Gly210=) c.510A>G (p.Gly170=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565484T>G | CA430502631 | SLC40A1 | c.630A>C (p.Gly210=) c.510A>C (p.Gly170=) | COSMIC |
2 | g.189565484T= | CA1315655861 | SLC40A1 | c.630A= (p.Gly210=) c.510A= (p.Gly170=) | |
2 | g.189565485C>A | CA349988778 | SLC40A1 | c.629G>T (p.Gly210Val) c.509G>T (p.Gly170Val) | |
2 | g.189565485C= | CA1315655863 | SLC40A1 | c.629G= (p.Gly210=) c.509G= (p.Gly170=) | |
2 | g.189565485C>G | CA62903058 | SLC40A1 | c.629G>C (p.Gly210Ala) c.509G>C (p.Gly170Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565485C>T | CA349988779 | SLC40A1 | c.629G>A (p.Gly210Glu) c.509G>A (p.Gly170Glu) | |
2 | g.189565486C>A | CA349988781 | SLC40A1 | c.628G>T (p.Gly210Ter) c.508G>T (p.Gly170Ter) | |
2 | g.189565486C>G | CA349988782 | SLC40A1 | c.628G>C (p.Gly210Arg) c.508G>C (p.Gly170Arg) | |
2 | g.189565486C>T | CA349988780 | SLC40A1 | c.628G>A (p.Gly210Arg) c.508G>A (p.Gly170Arg) | COSMIC |
2 | g.189565487C>A | CA430502635 | SLC40A1 | c.627G>T (p.Ser209=) c.507G>T (p.Ser169=) | |
2 | g.189565487C= | CA1315655865 | SLC40A1 | c.627G= (p.Ser209=) c.507G= (p.Ser169=) | |
2 | g.189565487C>G | CA430502636 | SLC40A1 | c.627G>C (p.Ser209=) c.507G>C (p.Ser169=) | |
2 | g.189565487C>T | CA62903059 | SLC40A1 | c.627G>A (p.Ser209=) c.507G>A (p.Ser169=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565488G>A | CA2024189 | SLC40A1 | c.626C>T (p.Ser209Leu) c.506C>T (p.Ser169Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565488G>C | CA349988783 | SLC40A1 | c.626C>G (p.Ser209Trp) c.506C>G (p.Ser169Trp) | gnomAD v4 |
2 | g.189565488G= | CA1315655871 | SLC40A1 | c.626C= (p.Ser209=) c.506C= (p.Ser169=) |