Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189565292C>T | CA2662328986 | SLC40A1 | c.760+62G>A (n.760+62G>A) c.640+62G>A (n.640+62G>A) | gnomAD v4 |
2 | g.189565295C>T | CA2662328989 | SLC40A1 | c.760+59G>A (n.760+59G>A) c.640+59G>A (n.640+59G>A) | gnomAD v4 |
2 | g.189565296A>T | CA2662328990 | SLC40A1 | c.760+58T>A (n.760+58T>A) c.640+58T>A (n.640+58T>A) | gnomAD v4 |
2 | g.189565297C>A | CA762272096 | SLC40A1 | c.760+57G>T (n.760+57G>T) c.640+57G>T (n.640+57G>T) | dbSNP |
2 | g.189565297C= | CA1315655620 | SLC40A1 | c.760+57G= (n.760+57G=) c.640+57G= (n.640+57G=) | |
2 | g.189565297C>T | CA762272095 | SLC40A1 | c.760+57G>A (n.760+57G>A) c.640+57G>A (n.640+57G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565298C>G | CA2662328994 | SLC40A1 | c.760+56G>C (n.760+56G>C) c.640+56G>C (n.640+56G>C) | gnomAD v4 |
2 | g.189565298C>T | CA2662328995 | SLC40A1 | c.760+56G>A (n.760+56G>A) c.640+56G>A (n.640+56G>A) | gnomAD v4 |
2 | g.189565300A= | CA1315655622 | SLC40A1 | c.760+54T= (n.760+54T=) c.640+54T= (n.640+54T=) | |
2 | g.189565300A>G | CA2662328996 | SLC40A1 | c.760+54T>C (n.760+54T>C) c.640+54T>C (n.640+54T>C) | gnomAD v4 |
2 | g.189565300A>T | CA762272097 | SLC40A1 | c.760+54T>A (n.760+54T>A) c.640+54T>A (n.640+54T>A) | dbSNP gnomAD v4 |
2 | g.189565301C>T | CA2662328997 | SLC40A1 | c.760+53G>A (n.760+53G>A) c.640+53G>A (n.640+53G>A) | gnomAD v4 |
2 | g.189565302A>G | CA2662328999 | SLC40A1 | c.760+52T>C (n.760+52T>C) c.640+52T>C (n.640+52T>C) | gnomAD v4 |
2 | g.189565304T>G | CA2024161 | SLC40A1 | c.760+50A>C (n.760+50A>C) c.640+50A>C (n.640+50A>C) | dbSNP ExAC |
2 | g.189565304T= | CA1315655624 | SLC40A1 | c.760+50A= (n.760+50A=) c.640+50A= (n.640+50A=) | |
2 | g.189565308G>C | CA538591848 | SLC40A1 | c.760+46C>G (n.760+46C>G) c.640+46C>G (n.640+46C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565308G= | CA1315655626 | SLC40A1 | c.760+46C= (n.760+46C=) c.640+46C= (n.640+46C=) | |
2 | g.189565309G>A | CA538591851 | SLC40A1 | c.760+45C>T (n.760+45C>T) c.640+45C>T (n.640+45C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565309G= | CA1315655629 | SLC40A1 | c.760+45C= (n.760+45C=) c.640+45C= (n.640+45C=) | |
2 | g.189565309G>T | CA2662329002 | SLC40A1 | c.760+45C>A (n.760+45C>A) c.640+45C>A (n.640+45C>A) | gnomAD v4 |
2 | g.189565311C>A | CA2662329005 | SLC40A1 | c.760+43G>T (n.760+43G>T) c.640+43G>T (n.640+43G>T) | gnomAD v4 |
2 | g.189565313G>A | CA538591853 | SLC40A1 | c.760+41C>T (n.760+41C>T) c.640+41C>T (n.640+41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565313G= | CA1315655631 | SLC40A1 | c.760+41C= (n.760+41C=) c.640+41C= (n.640+41C=) | |
2 | g.189565313G>T | CA2662329007 | SLC40A1 | c.760+41C>A (n.760+41C>A) c.640+41C>A (n.640+41C>A) | gnomAD v4 |
2 | g.189565315A>G | CA2662329010 | SLC40A1 | c.760+39T>C (n.760+39T>C) c.640+39T>C (n.640+39T>C) | gnomAD v4 |
2 | g.189565316C>A | CA1040450117 | SLC40A1 | c.760+38G>T (n.760+38G>T) c.640+38G>T (n.640+38G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565316C= | CA1315655633 | SLC40A1 | c.760+38G= (n.760+38G=) c.640+38G= (n.640+38G=) | |
2 | g.189565316C>T | CA2577188104 | SLC40A1 | c.760+38G>A (n.760+38G>A) c.640+38G>A (n.640+38G>A) | |
2 | g.189565317A= | CA1315655635 | SLC40A1 | c.760+37T= (n.760+37T=) c.640+37T= (n.640+37T=) | |
2 | g.189565317A>C | CA2024163 | SLC40A1 | c.760+37T>G (n.760+37T>G) c.640+37T>G (n.640+37T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565317A>G | CA538917970 | SLC40A1 | c.760+37T>C (n.760+37T>C) c.640+37T>C (n.640+37T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565317A>T | CA2024162 | SLC40A1 | c.760+37T>A (n.760+37T>A) c.640+37T>A (n.640+37T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565318T>C | CA2024164 | SLC40A1 | c.760+36A>G (n.760+36A>G) c.640+36A>G (n.640+36A>G) | dbSNP ExAC gnomAD v2 COSMIC |
2 | g.189565318T>G | CA2662329021 | SLC40A1 | c.760+36A>C (n.760+36A>C) c.640+36A>C (n.640+36A>C) | gnomAD v4 |
2 | g.189565318T= | CA1315655639 | SLC40A1 | c.760+36A= (n.760+36A=) c.640+36A= (n.640+36A=) | |
2 | g.189565319G>A | CA1040450118 | SLC40A1 | c.760+35C>T (n.760+35C>T) c.640+35C>T (n.640+35C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565319G= | CA1315655642 | SLC40A1 | c.760+35C= (n.760+35C=) c.640+35C= (n.640+35C=) | |
2 | g.189565319G>T | CA2662329025 | SLC40A1 | c.760+35C>A (n.760+35C>A) c.640+35C>A (n.640+35C>A) | gnomAD v4 |
2 | g.189565321G>A | CA1315655644 | SLC40A1 | c.760+33C>T (n.760+33C>T) c.640+33C>T (n.640+33C>T) | dbSNP |
2 | g.189565321G= | CA1315655643 | SLC40A1 | c.760+33C= (n.760+33C=) c.640+33C= (n.640+33C=) | |
2 | g.189565321G>T | CA2662329029 | SLC40A1 | c.760+33C>A (n.760+33C>A) c.640+33C>A (n.640+33C>A) | gnomAD v4 |
2 | g.189565322A= | CA1315655645 | SLC40A1 | c.760+32T= (n.760+32T=) c.640+32T= (n.640+32T=) | |
2 | g.189565322A>T | CA1315655646 | SLC40A1 | c.760+32T>A (n.760+32T>A) c.640+32T>A (n.640+32T>A) | dbSNP |
2 | g.189565323A= | CA1315655647 | SLC40A1 | c.760+31T= (n.760+31T=) c.640+31T= (n.640+31T=) | |
2 | g.189565323A>G | CA2024165 | SLC40A1 | c.760+31T>C (n.760+31T>C) c.640+31T>C (n.640+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565324C>A | CA538917971 | SLC40A1 | c.760+30G>T (n.760+30G>T) c.640+30G>T (n.640+30G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565324C= | CA1315655649 | SLC40A1 | c.760+30G= (n.760+30G=) c.640+30G= (n.640+30G=) | |
2 | g.189565324C>T | CA538917972 | SLC40A1 | c.760+30G>A (n.760+30G>A) c.640+30G>A (n.640+30G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565325A= | CA1315655650 | SLC40A1 | c.760+29T= (n.760+29T=) c.640+29T= (n.640+29T=) | |
2 | g.189565325A>G | CA1315655651 | SLC40A1 | c.760+29T>C (n.760+29T>C) c.640+29T>C (n.640+29T>C) | dbSNP |
2 | g.189565325A>T | CA2662329032 | SLC40A1 | c.760+29T>A (n.760+29T>A) c.640+29T>A (n.640+29T>A) | gnomAD v4 |
2 | g.189565327A= | CA1315655653 | SLC40A1 | c.760+27T= (n.760+27T=) c.640+27T= (n.640+27T=) | |
2 | g.189565327A>G | CA1315655655 | SLC40A1 | c.760+27T>C (n.760+27T>C) c.640+27T>C (n.640+27T>C) | dbSNP gnomAD v4 |
2 | g.189565329G>A | CA2024166 | SLC40A1 | c.760+25C>T (n.760+25C>T) c.640+25C>T (n.640+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565329G= | CA1315655657 | SLC40A1 | c.760+25C= (n.760+25C=) c.640+25C= (n.640+25C=) | |
2 | g.189565331A>C | CA2662329037 | SLC40A1 | c.760+23T>G (n.760+23T>G) c.640+23T>G (n.640+23T>G) | gnomAD v4 |
2 | g.189565332G>A | CA2577188105 | SLC40A1 | c.760+22C>T (n.760+22C>T) c.640+22C>T (n.640+22C>T) | gnomAD v4 |
2 | g.189565332G>C | CA538917973 | SLC40A1 | c.760+22C>G (n.760+22C>G) c.640+22C>G (n.640+22C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565332G= | CA1315655660 | SLC40A1 | c.760+22C= (n.760+22C=) c.640+22C= (n.640+22C=) | |
2 | g.189565335A= | CA1315655662 | SLC40A1 | c.760+19T= (n.760+19T=) c.640+19T= (n.640+19T=) | |
2 | g.189565335A>G | CA538917974 | SLC40A1 | c.760+19T>C (n.760+19T>C) c.640+19T>C (n.640+19T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565336T>A | CA538917975 | SLC40A1 | c.760+18A>T (n.760+18A>T) c.640+18A>T (n.640+18A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565336T= | CA1315655665 | SLC40A1 | c.760+18A= (n.760+18A=) c.640+18A= (n.640+18A=) | |
2 | g.189565339T>C | CA62903052 | SLC40A1 | c.760+15A>G (n.760+15A>G) c.640+15A>G (n.640+15A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565339T= | CA1315655666 | SLC40A1 | c.760+15A= (n.760+15A=) c.640+15A= (n.640+15A=) | |
2 | g.189565340T>C | CA2024167 | SLC40A1 | c.760+14A>G (n.760+14A>G) c.640+14A>G (n.640+14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565340T= | CA1315655670 | SLC40A1 | c.760+14A= (n.760+14A=) c.640+14A= (n.640+14A=) | |
2 | g.189565341G>A | CA2662329047 | SLC40A1 | c.760+13C>T (n.760+13C>T) c.640+13C>T (n.640+13C>T) | gnomAD v4 |
2 | g.189565342T>C | CA2662329049 | SLC40A1 | c.760+12A>G (n.760+12A>G) c.640+12A>G (n.640+12A>G) | gnomAD v4 |
2 | g.189565343G>A | CA538917976 | SLC40A1 | c.760+11C>T (n.760+11C>T) c.640+11C>T (n.640+11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565343G= | CA1315655677 | SLC40A1 | c.760+11C= (n.760+11C=) c.640+11C= (n.640+11C=) | |
2 | g.189565347A= | CA1315655680 | SLC40A1 | c.760+7T= (n.760+7T=) c.640+7T= (n.640+7T=) | |
2 | g.189565347A>C | CA62903053 | SLC40A1 | c.760+7T>G (n.760+7T>G) c.640+7T>G (n.640+7T>G) | dbSNP gnomAD v4 |
2 | g.189565347A>G | CA2662329051 | SLC40A1 | c.760+7T>C (n.760+7T>C) c.640+7T>C (n.640+7T>C) | gnomAD v4 |
2 | g.189565348G>A | CA2662329055 | SLC40A1 | c.760+6C>T (n.760+6C>T) c.640+6C>T (n.640+6C>T) | gnomAD v4 |
2 | g.189565349T>A | CA538917977 | SLC40A1 | c.760+5A>T (n.760+5A>T) c.640+5A>T (n.640+5A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565349T>C | CA2662329058 | SLC40A1 | c.760+5A>G (n.760+5A>G) c.640+5A>G (n.640+5A>G) | gnomAD v4 |
2 | g.189565349T= | CA1315655684 | SLC40A1 | c.760+5A= (n.760+5A=) c.640+5A= (n.640+5A=) | |
2 | g.189565352A>C | CA349988481 | SLC40A1 | c.760+2T>G (n.760+2T>G) c.640+2T>G (n.640+2T>G) | |
2 | g.189565352A>G | CA349988482 | SLC40A1 | c.760+2T>C (n.760+2T>C) c.640+2T>C (n.640+2T>C) | |
2 | g.189565352A>T | CA349988483 | SLC40A1 | c.760+2T>A (n.760+2T>A) c.640+2T>A (n.640+2T>A) | |
2 | g.189565353C>A | CA349988484 | SLC40A1 | c.760+1G>T (n.760+1G>T) c.640+1G>T (n.640+1G>T) | |
2 | g.189565353C>G | CA349988485 | SLC40A1 | c.760+1G>C (n.760+1G>C) c.640+1G>C (n.640+1G>C) | |
2 | g.189565353C>T | CA349988486 | SLC40A1 | c.760+1G>A (n.760+1G>A) c.640+1G>A (n.640+1G>A) | gnomAD v4 |
2 | g.189565354C>A | CA349988489 | SLC40A1 | c.760G>T (p.Asp254Tyr) c.640G>T (p.Asp214Tyr) | |
2 | g.189565354C>G | CA349988488 | SLC40A1 | c.760G>C (p.Asp254His) c.640G>C (p.Asp214His) | |
2 | g.189565354C>T | CA349988487 | SLC40A1 | c.760G>A (p.Asp254Asn) c.640G>A (p.Asp214Asn) | |
2 | g.189565355T>A | CA349988490 | SLC40A1 | c.759A>T (p.Lys253Asn) c.639A>T (p.Lys213Asn) | |
2 | g.189565355T>C | CA430502405 | SLC40A1 | c.759A>G (p.Lys253=) c.639A>G (p.Lys213=) | |
2 | g.189565355T>G | CA349988491 | SLC40A1 | c.759A>C (p.Lys253Asn) c.639A>C (p.Lys213Asn) | |
2 | g.189565357del | CA2662329061 | SLC40A1 | c.759del (p.Asp254IlefsTer12) c.639del (p.Asp214IlefsTer12) | gnomAD v4 |
2 | g.189565356T>A | CA349988492 | SLC40A1 | c.758A>T (p.Lys253Ile) c.638A>T (p.Lys213Ile) | |
2 | g.189565356T>C | CA349988493 | SLC40A1 | c.758A>G (p.Lys253Arg) c.638A>G (p.Lys213Arg) | dbSNP |
2 | g.189565356T>G | CA349988494 | SLC40A1 | c.758A>C (p.Lys253Thr) c.638A>C (p.Lys213Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565356T= | CA1315655691 | SLC40A1 | c.758A= (p.Lys253=) c.638A= (p.Lys213=) | |
2 | g.189565357T>A | CA349988495 | SLC40A1 | c.757A>T (p.Lys253Ter) c.637A>T (p.Lys213Ter) | |
2 | g.189565357T>C | CA349988496 | SLC40A1 | c.757A>G (p.Lys253Glu) c.637A>G (p.Lys213Glu) | gnomAD v4 |
2 | g.189565357T>G | CA349988497 | SLC40A1 | c.757A>C (p.Lys253Gln) c.637A>C (p.Lys213Gln) | |
2 | g.189565358G>A | CA430502406 | SLC40A1 | c.756C>T (p.His252=) c.636C>T (p.His212=) | |
2 | g.189565358G>C | CA2024168 | SLC40A1 | c.756C>G (p.His252Gln) c.636C>G (p.His212Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565358G= | CA1315655695 | SLC40A1 | c.756C= (p.His252=) c.636C= (p.His212=) | |
2 | g.189565358G>T | CA349988498 | SLC40A1 | c.756C>A (p.His252Gln) c.636C>A (p.His212Gln) | |
2 | g.189565359T>A | CA349988499 | SLC40A1 | c.755A>T (p.His252Leu) c.635A>T (p.His212Leu) | COSMIC |
2 | g.189565359T>C | CA349988500 | SLC40A1 | c.755A>G (p.His252Arg) c.635A>G (p.His212Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565359T>G | CA349988501 | SLC40A1 | c.755A>C (p.His252Pro) c.635A>C (p.His212Pro) | gnomAD v4 |
2 | g.189565359T= | CA1315655698 | SLC40A1 | c.755A= (p.His252=) c.635A= (p.His212=) | |
2 | g.189565360G>A | CA349988502 | SLC40A1 | c.754C>T (p.His252Tyr) c.634C>T (p.His212Tyr) | gnomAD v4 |
2 | g.189565360G>C | CA349988503 | SLC40A1 | c.754C>G (p.His252Asp) c.634C>G (p.His212Asp) | |
2 | g.189565360G= | CA1315655703 | SLC40A1 | c.754C= (p.His252=) c.634C= (p.His212=) | |
2 | g.189565360G>T | CA349988504 | SLC40A1 | c.754C>A (p.His252Asn) c.634C>A (p.His212Asn) | dbSNP gnomAD v4 |
2 | g.189565361T>A | CA349988505 | SLC40A1 | c.753A>T (p.Leu251Phe) c.633A>T (p.Leu211Phe) | |
2 | g.189565361T>C | CA430502407 | SLC40A1 | c.753A>G (p.Leu251=) c.633A>G (p.Leu211=) | |
2 | g.189565361T>G | CA349988506 | SLC40A1 | c.753A>C (p.Leu251Phe) c.633A>C (p.Leu211Phe) | |
2 | g.189565362A>C | CA349988507 | SLC40A1 | c.752T>G (p.Leu251Ter) c.632T>G (p.Leu211Ter) | |
2 | g.189565362A>G | CA349988508 | SLC40A1 | c.752T>C (p.Leu251Ser) c.632T>C (p.Leu211Ser) | |
2 | g.189565362A>T | CA349988509 | SLC40A1 | c.752T>A (p.Leu251Ter) c.632T>A (p.Leu211Ter) | |
2 | g.189565364del | CA2662329071 | SLC40A1 | c.752del (p.Leu251TyrfsTer15) c.632del (p.Leu211TyrfsTer15) | gnomAD v4 |
2 | g.189565363A>C | CA349988510 | SLC40A1 | c.751T>G (p.Leu251Val) c.631T>G (p.Leu211Val) | |
2 | g.189565363A>G | CA430502408 | SLC40A1 | c.751T>C (p.Leu251=) c.631T>C (p.Leu211=) | |
2 | g.189565363A>T | CA349988511 | SLC40A1 | c.751T>A (p.Leu251Ile) c.631T>A (p.Leu211Ile) | |
2 | g.189565364A>C | CA349988512 | SLC40A1 | c.750T>G (p.Asn250Lys) c.630T>G (p.Asn210Lys) | |
2 | g.189565364A>G | CA430502409 | SLC40A1 | c.750T>C (p.Asn250=) c.630T>C (p.Asn210=) | COSMIC |
2 | g.189565364A>T | CA349988513 | SLC40A1 | c.750T>A (p.Asn250Lys) c.630T>A (p.Asn210Lys) | |
2 | g.189565365T>A | CA349988514 | SLC40A1 | c.749A>T (p.Asn250Ile) c.629A>T (p.Asn210Ile) | gnomAD v4 |
2 | g.189565365T>C | CA349988515 | SLC40A1 | c.749A>G (p.Asn250Ser) c.629A>G (p.Asn210Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565365T>G | CA349988516 | SLC40A1 | c.749A>C (p.Asn250Thr) c.629A>C (p.Asn210Thr) | |
2 | g.189565365T= | CA1315655705 | SLC40A1 | c.749A= (p.Asn250=) c.629A= (p.Asn210=) | |
2 | g.189565366T>A | CA349988517 | SLC40A1 | c.748A>T (p.Asn250Tyr) c.628A>T (p.Asn210Tyr) | |
2 | g.189565366T>C | CA349988518 | SLC40A1 | c.748A>G (p.Asn250Asp) c.628A>G (p.Asn210Asp) | |
2 | g.189565366T>G | CA349988519 | SLC40A1 | c.748A>C (p.Asn250His) c.628A>C (p.Asn210His) | |
2 | g.189565367C>A | CA430502410 | SLC40A1 | c.747G>T (p.Leu249=) c.627G>T (p.Leu209=) | |
2 | g.189565367C= | CA1315655707 | SLC40A1 | c.747G= (p.Leu249=) c.627G= (p.Leu209=) | |
2 | g.189565367C>G | CA430502411 | SLC40A1 | c.747G>C (p.Leu249=) c.627G>C (p.Leu209=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565367C>T | CA430502412 | SLC40A1 | c.747G>A (p.Leu249=) c.627G>A (p.Leu209=) | |
2 | g.189565368A>C | CA349988520 | SLC40A1 | c.746T>G (p.Leu249Arg) c.626T>G (p.Leu209Arg) | gnomAD v4 |
2 | g.189565368A>G | CA349988522 | SLC40A1 | c.746T>C (p.Leu249Pro) c.626T>C (p.Leu209Pro) | |
2 | g.189565368A>T | CA349988521 | SLC40A1 | c.746T>A (p.Leu249Gln) c.626T>A (p.Leu209Gln) | |
2 | g.189565369G>A | CA62903054 | SLC40A1 | c.745C>T (p.Leu249=) c.625C>T (p.Leu209=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565369G>C | CA349988523 | SLC40A1 | c.745C>G (p.Leu249Val) c.625C>G (p.Leu209Val) | |
2 | g.189565369G= | CA1315655708 | SLC40A1 | c.745C= (p.Leu249=) c.625C= (p.Leu209=) | |
2 | g.189565369G>T | CA349988524 | SLC40A1 | c.745C>A (p.Leu249Met) c.625C>A (p.Leu209Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565370C>A | CA2024169 | SLC40A1 | c.744G>T (p.Gln248His) c.624G>T (p.Gln208His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565370C= | CA1315655710 | SLC40A1 | c.744G= (p.Gln248=) c.624G= (p.Gln208=) | |
2 | g.189565370C>G | CA349988525 | SLC40A1 | c.744G>C (p.Gln248His) c.624G>C (p.Gln208His) | |
2 | g.189565370C>T | CA430502413 | SLC40A1 | c.744G>A (p.Gln248=) c.624G>A (p.Gln208=) | dbSNP |
2 | g.189565371T>A | CA2024170 | SLC40A1 | c.743A>T (p.Gln248Leu) c.623A>T (p.Gln208Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565371T>C | CA349988526 | SLC40A1 | c.743A>G (p.Gln248Arg) c.623A>G (p.Gln208Arg) | |
2 | g.189565371T>G | CA349988527 | SLC40A1 | c.743A>C (p.Gln248Pro) c.623A>C (p.Gln208Pro) | |
2 | g.189565371T= | CA1315655714 | SLC40A1 | c.743A= (p.Gln248=) c.623A= (p.Gln208=) | |
2 | g.189565372G>A | CA349988528 | SLC40A1 | c.742C>T (p.Gln248Ter) c.622C>T (p.Gln208Ter) | |
2 | g.189565372G>C | CA349988529 | SLC40A1 | c.742C>G (p.Gln248Glu) c.622C>G (p.Gln208Glu) | gnomAD v4 |
2 | g.189565372G>T | CA349988530 | SLC40A1 | c.742C>A (p.Gln248Lys) c.622C>A (p.Gln208Lys) | |
2 | g.189565373T>A | CA349988531 | SLC40A1 | c.741A>T (p.Lys247Asn) c.621A>T (p.Lys207Asn) | |
2 | g.189565373T>C | CA430502415 | SLC40A1 | c.741A>G (p.Lys247=) c.621A>G (p.Lys207=) | |
2 | g.189565373T>G | CA349988532 | SLC40A1 | c.741A>C (p.Lys247Asn) c.621A>C (p.Lys207Asn) | |
2 | g.189565374T>A | CA349988535 | SLC40A1 | c.740A>T (p.Lys247Ile) c.620A>T (p.Lys207Ile) | |
2 | g.189565374T>C | CA349988533 | SLC40A1 | c.740A>G (p.Lys247Arg) c.620A>G (p.Lys207Arg) | |
2 | g.189565374T>G | CA349988534 | SLC40A1 | c.740A>C (p.Lys247Thr) c.620A>C (p.Lys207Thr) | |
2 | g.189565375T>A | CA349988536 | SLC40A1 | c.739A>T (p.Lys247Ter) c.619A>T (p.Lys207Ter) | |
2 | g.189565375T>C | CA349988537 | SLC40A1 | c.739A>G (p.Lys247Glu) c.619A>G (p.Lys207Glu) | |
2 | g.189565375T>G | CA349988538 | SLC40A1 | c.739A>C (p.Lys247Gln) c.619A>C (p.Lys207Gln) | |
2 | g.189565376C>A | CA349988539 | SLC40A1 | c.738G>T (p.Leu246Phe) c.618G>T (p.Leu206Phe) | |
2 | g.189565376C>G | CA349988540 | SLC40A1 | c.738G>C (p.Leu246Phe) c.618G>C (p.Leu206Phe) | |
2 | g.189565376C>T | CA430502418 | SLC40A1 | c.738G>A (p.Leu246=) c.618G>A (p.Leu206=) | |
2 | g.189565377A>C | CA349988541 | SLC40A1 | c.737T>G (p.Leu246Trp) c.617T>G (p.Leu206Trp) | |
2 | g.189565377A>G | CA349988542 | SLC40A1 | c.737T>C (p.Leu246Ser) c.617T>C (p.Leu206Ser) | |
2 | g.189565377A>T | CA349988543 | SLC40A1 | c.737T>A (p.Leu246Ter) c.617T>A (p.Leu206Ter) | |
2 | g.189565378A>C | CA349988544 | SLC40A1 | c.736T>G (p.Leu246Val) c.616T>G (p.Leu206Val) | |
2 | g.189565378A>G | CA430502419 | SLC40A1 | c.736T>C (p.Leu246=) c.616T>C (p.Leu206=) | ClinVar gnomAD v4 |
2 | g.189565378A>T | CA349988545 | SLC40A1 | c.736T>A (p.Leu246Met) c.616T>A (p.Leu206Met) | |
2 | g.189565379T>A | CA349988546 | SLC40A1 | c.735A>T (p.Glu245Asp) c.615A>T (p.Glu205Asp) | |
2 | g.189565379T>C | CA430502420 | SLC40A1 | c.735A>G (p.Glu245=) c.615A>G (p.Glu205=) | |
2 | g.189565379T>G | CA349988547 | SLC40A1 | c.735A>C (p.Glu245Asp) c.615A>C (p.Glu205Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565379T= | CA1315655717 | SLC40A1 | c.735A= (p.Glu245=) c.615A= (p.Glu205=) | |
2 | g.189565380T>A | CA349988548 | SLC40A1 | c.734A>T (p.Glu245Val) c.614A>T (p.Glu205Val) | |
2 | g.189565380T>C | CA349988550 | SLC40A1 | c.734A>G (p.Glu245Gly) c.614A>G (p.Glu205Gly) | |
2 | g.189565380T>G | CA349988549 | SLC40A1 | c.734A>C (p.Glu245Ala) c.614A>C (p.Glu205Ala) | |
2 | g.189565381C>A | CA349988551 | SLC40A1 | c.733G>T (p.Glu245Ter) c.613G>T (p.Glu205Ter) | |
2 | g.189565381C>G | CA349988552 | SLC40A1 | c.733G>C (p.Glu245Gln) c.613G>C (p.Glu205Gln) | |
2 | g.189565381C>T | CA349988553 | SLC40A1 | c.733G>A (p.Glu245Lys) c.613G>A (p.Glu205Lys) | |
2 | g.189565382A= | CA1315655722 | SLC40A1 | c.732T= (p.Thr244=) c.612T= (p.Thr204=) | |
2 | g.189565382A>C | CA430502424 | SLC40A1 | c.732T>G (p.Thr244=) c.612T>G (p.Thr204=) | gnomAD v4 |
2 | g.189565382A>G | CA430502426 | SLC40A1 | c.732T>C (p.Thr244=) c.612T>C (p.Thr204=) | dbSNP |
2 | g.189565382A>T | CA430502425 | SLC40A1 | c.732T>A (p.Thr244=) c.612T>A (p.Thr204=) | |
2 | g.189565383G>A | CA349988554 | SLC40A1 | c.731C>T (p.Thr244Ile) c.611C>T (p.Thr204Ile) | |
2 | g.189565383G>C | CA349988555 | SLC40A1 | c.731C>G (p.Thr244Ser) c.611C>G (p.Thr204Ser) | |
2 | g.189565383G>T | CA349988556 | SLC40A1 | c.731C>A (p.Thr244Asn) c.611C>A (p.Thr204Asn) | |
2 | g.189565384T>A | CA349988559 | SLC40A1 | c.730A>T (p.Thr244Ser) c.610A>T (p.Thr204Ser) | |
2 | g.189565384T>C | CA349988557 | SLC40A1 | c.730A>G (p.Thr244Ala) c.610A>G (p.Thr204Ala) | |
2 | g.189565384T>G | CA349988558 | SLC40A1 | c.730A>C (p.Thr244Pro) c.610A>C (p.Thr204Pro) | |
2 | g.189565385T>A | CA349988560 | SLC40A1 | c.729A>T (p.Glu243Asp) c.609A>T (p.Glu203Asp) | |
2 | g.189565385T>C | CA430502429 | SLC40A1 | c.729A>G (p.Glu243=) c.609A>G (p.Glu203=) | |
2 | g.189565385T>G | CA349988561 | SLC40A1 | c.729A>C (p.Glu243Asp) c.609A>C (p.Glu203Asp) | |
2 | g.189565386T>A | CA349988562 | SLC40A1 | c.728A>T (p.Glu243Val) c.608A>T (p.Glu203Val) | |
2 | g.189565386T>C | CA349988563 | SLC40A1 | c.728A>G (p.Glu243Gly) c.608A>G (p.Glu203Gly) | |
2 | g.189565386T>G | CA349988564 | SLC40A1 | c.728A>C (p.Glu243Ala) c.608A>C (p.Glu203Ala) | |
2 | g.189565387C>A | CA349988567 | SLC40A1 | c.727G>T (p.Glu243Ter) c.607G>T (p.Glu203Ter) | |
2 | g.189565387C>G | CA349988565 | SLC40A1 | c.727G>C (p.Glu243Gln) c.607G>C (p.Glu203Gln) | |
2 | g.189565387C>T | CA349988566 | SLC40A1 | c.727G>A (p.Glu243Lys) c.607G>A (p.Glu203Lys) | |
2 | g.189565388C>A | CA349988568 | SLC40A1 | c.726G>T (p.Glu242Asp) c.606G>T (p.Glu202Asp) | |
2 | g.189565388C= | CA1315655724 | SLC40A1 | c.726G= (p.Glu242=) c.606G= (p.Glu202=) | |
2 | g.189565388C>G | CA349988569 | SLC40A1 | c.726G>C (p.Glu242Asp) c.606G>C (p.Glu202Asp) | |
2 | g.189565388C>T | CA430502431 | SLC40A1 | c.726G>A (p.Glu242=) c.606G>A (p.Glu202=) | dbSNP gnomAD v4 |
2 | g.189565390_189565391del | CA2662329079 | SLC40A1 | c.725_726del (p.Glu242GlyfsTer3) c.605_606del (p.Glu202GlyfsTer3) | gnomAD v4 |
2 | g.189565389T>A | CA349988570 | SLC40A1 | c.725A>T (p.Glu242Val) c.605A>T (p.Glu202Val) | |
2 | g.189565389T>C | CA2024171 | SLC40A1 | c.725A>G (p.Glu242Gly) c.605A>G (p.Glu202Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565389T>G | CA349988571 | SLC40A1 | c.725A>C (p.Glu242Ala) c.605A>C (p.Glu202Ala) | |
2 | g.189565389T= | CA1315655729 | SLC40A1 | c.725A= (p.Glu242=) c.605A= (p.Glu202=) | |
2 | g.189565390C>A | CA349988572 | SLC40A1 | c.724G>T (p.Glu242Ter) c.604G>T (p.Glu202Ter) | |
2 | g.189565390C>G | CA349988573 | SLC40A1 | c.724G>C (p.Glu242Gln) c.604G>C (p.Glu202Gln) | |
2 | g.189565390C>T | CA349988574 | SLC40A1 | c.724G>A (p.Glu242Lys) c.604G>A (p.Glu202Lys) | |
2 | g.189565391T>A | CA2024172 | SLC40A1 | c.723A>T (p.Glu241Asp) c.603A>T (p.Glu201Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565391T>C | CA430502435 | SLC40A1 | c.723A>G (p.Glu241=) c.603A>G (p.Glu201=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565391T>G | CA349988575 | SLC40A1 | c.723A>C (p.Glu241Asp) c.603A>C (p.Glu201Asp) | |
2 | g.189565391T= | CA1315655733 | SLC40A1 | c.723A= (p.Glu241=) c.603A= (p.Glu201=) | |
2 | g.189565392T>A | CA349988576 | SLC40A1 | c.722A>T (p.Glu241Val) c.602A>T (p.Glu201Val) | gnomAD v4 |
2 | g.189565392T>C | CA349988577 | SLC40A1 | c.722A>G (p.Glu241Gly) c.602A>G (p.Glu201Gly) | |
2 | g.189565392T>G | CA349988578 | SLC40A1 | c.722A>C (p.Glu241Ala) c.602A>C (p.Glu201Ala) |