Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189565300A=CA1315655622SLC40A1c.760+54T= (n.760+54T=)
c.640+54T= (n.640+54T=)
2g.189565300A>GCA2662328996SLC40A1c.760+54T>C (n.760+54T>C)
c.640+54T>C (n.640+54T>C)
 gnomAD v4
2g.189565300A>TCA762272097SLC40A1c.760+54T>A (n.760+54T>A)
c.640+54T>A (n.640+54T>A)
 dbSNP gnomAD v4
2g.189565301C>TCA2662328997SLC40A1c.760+53G>A (n.760+53G>A)
c.640+53G>A (n.640+53G>A)
 gnomAD v4
2g.189565302A>GCA2662328999SLC40A1c.760+52T>C (n.760+52T>C)
c.640+52T>C (n.640+52T>C)
 gnomAD v4
2g.189565304T>GCA2024161SLC40A1c.760+50A>C (n.760+50A>C)
c.640+50A>C (n.640+50A>C)
 dbSNP ExAC
2g.189565304T=CA1315655624SLC40A1c.760+50A= (n.760+50A=)
c.640+50A= (n.640+50A=)
2g.189565308G>CCA538591848SLC40A1c.760+46C>G (n.760+46C>G)
c.640+46C>G (n.640+46C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565308G=CA1315655626SLC40A1c.760+46C= (n.760+46C=)
c.640+46C= (n.640+46C=)
2g.189565309G>ACA538591851SLC40A1c.760+45C>T (n.760+45C>T)
c.640+45C>T (n.640+45C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189565309G=CA1315655629SLC40A1c.760+45C= (n.760+45C=)
c.640+45C= (n.640+45C=)
2g.189565309G>TCA2662329002SLC40A1c.760+45C>A (n.760+45C>A)
c.640+45C>A (n.640+45C>A)
 gnomAD v4
2g.189565311C>ACA2662329005SLC40A1c.760+43G>T (n.760+43G>T)
c.640+43G>T (n.640+43G>T)
 gnomAD v4
2g.189565313G>ACA538591853SLC40A1c.760+41C>T (n.760+41C>T)
c.640+41C>T (n.640+41C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565313G=CA1315655631SLC40A1c.760+41C= (n.760+41C=)
c.640+41C= (n.640+41C=)
2g.189565313G>TCA2662329007SLC40A1c.760+41C>A (n.760+41C>A)
c.640+41C>A (n.640+41C>A)
 gnomAD v4
2g.189565315A>GCA2662329010SLC40A1c.760+39T>C (n.760+39T>C)
c.640+39T>C (n.640+39T>C)
 gnomAD v4
2g.189565316C>ACA1040450117SLC40A1c.760+38G>T (n.760+38G>T)
c.640+38G>T (n.640+38G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189565316C=CA1315655633SLC40A1c.760+38G= (n.760+38G=)
c.640+38G= (n.640+38G=)
2g.189565316C>TCA2577188104SLC40A1c.760+38G>A (n.760+38G>A)
c.640+38G>A (n.640+38G>A)
2g.189565317A=CA1315655635SLC40A1c.760+37T= (n.760+37T=)
c.640+37T= (n.640+37T=)
2g.189565317A>CCA2024163SLC40A1c.760+37T>G (n.760+37T>G)
c.640+37T>G (n.640+37T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565317A>GCA538917970SLC40A1c.760+37T>C (n.760+37T>C)
c.640+37T>C (n.640+37T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189565317A>TCA2024162SLC40A1c.760+37T>A (n.760+37T>A)
c.640+37T>A (n.640+37T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565318T>CCA2024164SLC40A1c.760+36A>G (n.760+36A>G)
c.640+36A>G (n.640+36A>G)
 dbSNP ExAC gnomAD v2 COSMIC
2g.189565318T>GCA2662329021SLC40A1c.760+36A>C (n.760+36A>C)
c.640+36A>C (n.640+36A>C)
 gnomAD v4
2g.189565318T=CA1315655639SLC40A1c.760+36A= (n.760+36A=)
c.640+36A= (n.640+36A=)
2g.189565319G>ACA1040450118SLC40A1c.760+35C>T (n.760+35C>T)
c.640+35C>T (n.640+35C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189565319G=CA1315655642SLC40A1c.760+35C= (n.760+35C=)
c.640+35C= (n.640+35C=)
2g.189565319G>TCA2662329025SLC40A1c.760+35C>A (n.760+35C>A)
c.640+35C>A (n.640+35C>A)
 gnomAD v4
2g.189565321G>ACA1315655644SLC40A1c.760+33C>T (n.760+33C>T)
c.640+33C>T (n.640+33C>T)
 dbSNP
2g.189565321G=CA1315655643SLC40A1c.760+33C= (n.760+33C=)
c.640+33C= (n.640+33C=)
2g.189565321G>TCA2662329029SLC40A1c.760+33C>A (n.760+33C>A)
c.640+33C>A (n.640+33C>A)
 gnomAD v4
2g.189565322A=CA1315655645SLC40A1c.760+32T= (n.760+32T=)
c.640+32T= (n.640+32T=)
2g.189565322A>TCA1315655646SLC40A1c.760+32T>A (n.760+32T>A)
c.640+32T>A (n.640+32T>A)
 dbSNP
2g.189565323A=CA1315655647SLC40A1c.760+31T= (n.760+31T=)
c.640+31T= (n.640+31T=)
2g.189565323A>GCA2024165SLC40A1c.760+31T>C (n.760+31T>C)
c.640+31T>C (n.640+31T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565324C>ACA538917971SLC40A1c.760+30G>T (n.760+30G>T)
c.640+30G>T (n.640+30G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565324C=CA1315655649SLC40A1c.760+30G= (n.760+30G=)
c.640+30G= (n.640+30G=)
2g.189565324C>TCA538917972SLC40A1c.760+30G>A (n.760+30G>A)
c.640+30G>A (n.640+30G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189565325A=CA1315655650SLC40A1c.760+29T= (n.760+29T=)
c.640+29T= (n.640+29T=)
2g.189565325A>GCA1315655651SLC40A1c.760+29T>C (n.760+29T>C)
c.640+29T>C (n.640+29T>C)
 dbSNP
2g.189565325A>TCA2662329032SLC40A1c.760+29T>A (n.760+29T>A)
c.640+29T>A (n.640+29T>A)
 gnomAD v4
2g.189565327A=CA1315655653SLC40A1c.760+27T= (n.760+27T=)
c.640+27T= (n.640+27T=)
2g.189565327A>GCA1315655655SLC40A1c.760+27T>C (n.760+27T>C)
c.640+27T>C (n.640+27T>C)
 dbSNP gnomAD v4
2g.189565329G>ACA2024166SLC40A1c.760+25C>T (n.760+25C>T)
c.640+25C>T (n.640+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565329G=CA1315655657SLC40A1c.760+25C= (n.760+25C=)
c.640+25C= (n.640+25C=)
2g.189565331A>CCA2662329037SLC40A1c.760+23T>G (n.760+23T>G)
c.640+23T>G (n.640+23T>G)
 gnomAD v4
2g.189565332G>ACA2577188105SLC40A1c.760+22C>T (n.760+22C>T)
c.640+22C>T (n.640+22C>T)
 gnomAD v4
2g.189565332G>CCA538917973SLC40A1c.760+22C>G (n.760+22C>G)
c.640+22C>G (n.640+22C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189565332G=CA1315655660SLC40A1c.760+22C= (n.760+22C=)
c.640+22C= (n.640+22C=)
2g.189565335A=CA1315655662SLC40A1c.760+19T= (n.760+19T=)
c.640+19T= (n.640+19T=)
2g.189565335A>GCA538917974SLC40A1c.760+19T>C (n.760+19T>C)
c.640+19T>C (n.640+19T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189565336T>ACA538917975SLC40A1c.760+18A>T (n.760+18A>T)
c.640+18A>T (n.640+18A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189565336T=CA1315655665SLC40A1c.760+18A= (n.760+18A=)
c.640+18A= (n.640+18A=)
2g.189565339T>CCA62903052SLC40A1c.760+15A>G (n.760+15A>G)
c.640+15A>G (n.640+15A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565339T=CA1315655666SLC40A1c.760+15A= (n.760+15A=)
c.640+15A= (n.640+15A=)
2g.189565340T>CCA2024167SLC40A1c.760+14A>G (n.760+14A>G)
c.640+14A>G (n.640+14A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565340T=CA1315655670SLC40A1c.760+14A= (n.760+14A=)
c.640+14A= (n.640+14A=)
2g.189565341G>ACA2662329047SLC40A1c.760+13C>T (n.760+13C>T)
c.640+13C>T (n.640+13C>T)
 gnomAD v4
2g.189565342T>CCA2662329049SLC40A1c.760+12A>G (n.760+12A>G)
c.640+12A>G (n.640+12A>G)
 gnomAD v4
2g.189565343G>ACA538917976SLC40A1c.760+11C>T (n.760+11C>T)
c.640+11C>T (n.640+11C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565343G=CA1315655677SLC40A1c.760+11C= (n.760+11C=)
c.640+11C= (n.640+11C=)
2g.189565347A=CA1315655680SLC40A1c.760+7T= (n.760+7T=)
c.640+7T= (n.640+7T=)
2g.189565347A>CCA62903053SLC40A1c.760+7T>G (n.760+7T>G)
c.640+7T>G (n.640+7T>G)
 dbSNP gnomAD v4
2g.189565347A>GCA2662329051SLC40A1c.760+7T>C (n.760+7T>C)
c.640+7T>C (n.640+7T>C)
 gnomAD v4
2g.189565348G>ACA2662329055SLC40A1c.760+6C>T (n.760+6C>T)
c.640+6C>T (n.640+6C>T)
 gnomAD v4
2g.189565349T>ACA538917977SLC40A1c.760+5A>T (n.760+5A>T)
c.640+5A>T (n.640+5A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189565349T>CCA2662329058SLC40A1c.760+5A>G (n.760+5A>G)
c.640+5A>G (n.640+5A>G)
 gnomAD v4
2g.189565349T=CA1315655684SLC40A1c.760+5A= (n.760+5A=)
c.640+5A= (n.640+5A=)
2g.189565352A>CCA349988481SLC40A1c.760+2T>G (n.760+2T>G)
c.640+2T>G (n.640+2T>G)
2g.189565352A>GCA349988482SLC40A1c.760+2T>C (n.760+2T>C)
c.640+2T>C (n.640+2T>C)
2g.189565352A>TCA349988483SLC40A1c.760+2T>A (n.760+2T>A)
c.640+2T>A (n.640+2T>A)
2g.189565353C>ACA349988484SLC40A1c.760+1G>T (n.760+1G>T)
c.640+1G>T (n.640+1G>T)
2g.189565353C>GCA349988485SLC40A1c.760+1G>C (n.760+1G>C)
c.640+1G>C (n.640+1G>C)
2g.189565353C>TCA349988486SLC40A1c.760+1G>A (n.760+1G>A)
c.640+1G>A (n.640+1G>A)
 gnomAD v4
2g.189565354C>ACA349988489SLC40A1c.760G>T (p.Asp254Tyr)
c.640G>T (p.Asp214Tyr)
2g.189565354C>GCA349988488SLC40A1c.760G>C (p.Asp254His)
c.640G>C (p.Asp214His)
2g.189565354C>TCA349988487SLC40A1c.760G>A (p.Asp254Asn)
c.640G>A (p.Asp214Asn)
2g.189565355T>ACA349988490SLC40A1c.759A>T (p.Lys253Asn)
c.639A>T (p.Lys213Asn)
2g.189565355T>CCA430502405SLC40A1c.759A>G (p.Lys253=)
c.639A>G (p.Lys213=)
2g.189565355T>GCA349988491SLC40A1c.759A>C (p.Lys253Asn)
c.639A>C (p.Lys213Asn)
2g.189565357delCA2662329061SLC40A1c.759del (p.Asp254IlefsTer12)
c.639del (p.Asp214IlefsTer12)
 gnomAD v4
2g.189565356T>ACA349988492SLC40A1c.758A>T (p.Lys253Ile)
c.638A>T (p.Lys213Ile)
2g.189565356T>CCA349988493SLC40A1c.758A>G (p.Lys253Arg)
c.638A>G (p.Lys213Arg)
 dbSNP
2g.189565356T>GCA349988494SLC40A1c.758A>C (p.Lys253Thr)
c.638A>C (p.Lys213Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.189565356T=CA1315655691SLC40A1c.758A= (p.Lys253=)
c.638A= (p.Lys213=)
2g.189565357T>ACA349988495SLC40A1c.757A>T (p.Lys253Ter)
c.637A>T (p.Lys213Ter)
2g.189565357T>CCA349988496SLC40A1c.757A>G (p.Lys253Glu)
c.637A>G (p.Lys213Glu)
 gnomAD v4
2g.189565357T>GCA349988497SLC40A1c.757A>C (p.Lys253Gln)
c.637A>C (p.Lys213Gln)
2g.189565358G>ACA430502406SLC40A1c.756C>T (p.His252=)
c.636C>T (p.His212=)
2g.189565358G>CCA2024168SLC40A1c.756C>G (p.His252Gln)
c.636C>G (p.His212Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565358G=CA1315655695SLC40A1c.756C= (p.His252=)
c.636C= (p.His212=)
2g.189565358G>TCA349988498SLC40A1c.756C>A (p.His252Gln)
c.636C>A (p.His212Gln)
2g.189565359T>ACA349988499SLC40A1c.755A>T (p.His252Leu)
c.635A>T (p.His212Leu)
 COSMIC
2g.189565359T>CCA349988500SLC40A1c.755A>G (p.His252Arg)
c.635A>G (p.His212Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.189565359T>GCA349988501SLC40A1c.755A>C (p.His252Pro)
c.635A>C (p.His212Pro)
 gnomAD v4
2g.189565359T=CA1315655698SLC40A1c.755A= (p.His252=)
c.635A= (p.His212=)
2g.189565360G>ACA349988502SLC40A1c.754C>T (p.His252Tyr)
c.634C>T (p.His212Tyr)
 gnomAD v4
2g.189565360G>CCA349988503SLC40A1c.754C>G (p.His252Asp)
c.634C>G (p.His212Asp)
2g.189565360G=CA1315655703SLC40A1c.754C= (p.His252=)
c.634C= (p.His212=)
2g.189565360G>TCA349988504SLC40A1c.754C>A (p.His252Asn)
c.634C>A (p.His212Asn)
 dbSNP gnomAD v4
2g.189565361T>ACA349988505SLC40A1c.753A>T (p.Leu251Phe)
c.633A>T (p.Leu211Phe)
2g.189565361T>CCA430502407SLC40A1c.753A>G (p.Leu251=)
c.633A>G (p.Leu211=)
2g.189565361T>GCA349988506SLC40A1c.753A>C (p.Leu251Phe)
c.633A>C (p.Leu211Phe)
2g.189565362A>CCA349988507SLC40A1c.752T>G (p.Leu251Ter)
c.632T>G (p.Leu211Ter)
2g.189565362A>GCA349988508SLC40A1c.752T>C (p.Leu251Ser)
c.632T>C (p.Leu211Ser)
2g.189565362A>TCA349988509SLC40A1c.752T>A (p.Leu251Ter)
c.632T>A (p.Leu211Ter)
2g.189565364delCA2662329071SLC40A1c.752del (p.Leu251TyrfsTer15)
c.632del (p.Leu211TyrfsTer15)
 gnomAD v4
2g.189565363A>CCA349988510SLC40A1c.751T>G (p.Leu251Val)
c.631T>G (p.Leu211Val)
2g.189565363A>GCA430502408SLC40A1c.751T>C (p.Leu251=)
c.631T>C (p.Leu211=)
2g.189565363A>TCA349988511SLC40A1c.751T>A (p.Leu251Ile)
c.631T>A (p.Leu211Ile)
2g.189565364A>CCA349988512SLC40A1c.750T>G (p.Asn250Lys)
c.630T>G (p.Asn210Lys)
2g.189565364A>GCA430502409SLC40A1c.750T>C (p.Asn250=)
c.630T>C (p.Asn210=)
 COSMIC
2g.189565364A>TCA349988513SLC40A1c.750T>A (p.Asn250Lys)
c.630T>A (p.Asn210Lys)
2g.189565365T>ACA349988514SLC40A1c.749A>T (p.Asn250Ile)
c.629A>T (p.Asn210Ile)
 gnomAD v4
2g.189565365T>CCA349988515SLC40A1c.749A>G (p.Asn250Ser)
c.629A>G (p.Asn210Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.189565365T>GCA349988516SLC40A1c.749A>C (p.Asn250Thr)
c.629A>C (p.Asn210Thr)
2g.189565365T=CA1315655705SLC40A1c.749A= (p.Asn250=)
c.629A= (p.Asn210=)
2g.189565366T>ACA349988517SLC40A1c.748A>T (p.Asn250Tyr)
c.628A>T (p.Asn210Tyr)
2g.189565366T>CCA349988518SLC40A1c.748A>G (p.Asn250Asp)
c.628A>G (p.Asn210Asp)
2g.189565366T>GCA349988519SLC40A1c.748A>C (p.Asn250His)
c.628A>C (p.Asn210His)
2g.189565367C>ACA430502410SLC40A1c.747G>T (p.Leu249=)
c.627G>T (p.Leu209=)
2g.189565367C=CA1315655707SLC40A1c.747G= (p.Leu249=)
c.627G= (p.Leu209=)
2g.189565367C>GCA430502411SLC40A1c.747G>C (p.Leu249=)
c.627G>C (p.Leu209=)
 dbSNP gnomAD v3 gnomAD v4
2g.189565367C>TCA430502412SLC40A1c.747G>A (p.Leu249=)
c.627G>A (p.Leu209=)
2g.189565368A>CCA349988520SLC40A1c.746T>G (p.Leu249Arg)
c.626T>G (p.Leu209Arg)
 gnomAD v4
2g.189565368A>GCA349988522SLC40A1c.746T>C (p.Leu249Pro)
c.626T>C (p.Leu209Pro)
2g.189565368A>TCA349988521SLC40A1c.746T>A (p.Leu249Gln)
c.626T>A (p.Leu209Gln)
2g.189565369G>ACA62903054SLC40A1c.745C>T (p.Leu249=)
c.625C>T (p.Leu209=)
 dbSNP gnomAD v2 gnomAD v4
2g.189565369G>CCA349988523SLC40A1c.745C>G (p.Leu249Val)
c.625C>G (p.Leu209Val)
2g.189565369G=CA1315655708SLC40A1c.745C= (p.Leu249=)
c.625C= (p.Leu209=)
2g.189565369G>TCA349988524SLC40A1c.745C>A (p.Leu249Met)
c.625C>A (p.Leu209Met)
 dbSNP gnomAD v2 gnomAD v4
2g.189565370C>ACA2024169SLC40A1c.744G>T (p.Gln248His)
c.624G>T (p.Gln208His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565370C=CA1315655710SLC40A1c.744G= (p.Gln248=)
c.624G= (p.Gln208=)
2g.189565370C>GCA349988525SLC40A1c.744G>C (p.Gln248His)
c.624G>C (p.Gln208His)
2g.189565370C>TCA430502413SLC40A1c.744G>A (p.Gln248=)
c.624G>A (p.Gln208=)
 dbSNP
2g.189565371T>ACA2024170SLC40A1c.743A>T (p.Gln248Leu)
c.623A>T (p.Gln208Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565371T>CCA349988526SLC40A1c.743A>G (p.Gln248Arg)
c.623A>G (p.Gln208Arg)
2g.189565371T>GCA349988527SLC40A1c.743A>C (p.Gln248Pro)
c.623A>C (p.Gln208Pro)
2g.189565371T=CA1315655714SLC40A1c.743A= (p.Gln248=)
c.623A= (p.Gln208=)
2g.189565372G>ACA349988528SLC40A1c.742C>T (p.Gln248Ter)
c.622C>T (p.Gln208Ter)
2g.189565372G>CCA349988529SLC40A1c.742C>G (p.Gln248Glu)
c.622C>G (p.Gln208Glu)
 gnomAD v4
2g.189565372G>TCA349988530SLC40A1c.742C>A (p.Gln248Lys)
c.622C>A (p.Gln208Lys)
2g.189565373T>ACA349988531SLC40A1c.741A>T (p.Lys247Asn)
c.621A>T (p.Lys207Asn)
2g.189565373T>CCA430502415SLC40A1c.741A>G (p.Lys247=)
c.621A>G (p.Lys207=)
2g.189565373T>GCA349988532SLC40A1c.741A>C (p.Lys247Asn)
c.621A>C (p.Lys207Asn)
2g.189565374T>ACA349988535SLC40A1c.740A>T (p.Lys247Ile)
c.620A>T (p.Lys207Ile)
2g.189565374T>CCA349988533SLC40A1c.740A>G (p.Lys247Arg)
c.620A>G (p.Lys207Arg)
2g.189565374T>GCA349988534SLC40A1c.740A>C (p.Lys247Thr)
c.620A>C (p.Lys207Thr)
2g.189565375T>ACA349988536SLC40A1c.739A>T (p.Lys247Ter)
c.619A>T (p.Lys207Ter)
2g.189565375T>CCA349988537SLC40A1c.739A>G (p.Lys247Glu)
c.619A>G (p.Lys207Glu)
2g.189565375T>GCA349988538SLC40A1c.739A>C (p.Lys247Gln)
c.619A>C (p.Lys207Gln)
2g.189565376C>ACA349988539SLC40A1c.738G>T (p.Leu246Phe)
c.618G>T (p.Leu206Phe)
2g.189565376C>GCA349988540SLC40A1c.738G>C (p.Leu246Phe)
c.618G>C (p.Leu206Phe)
2g.189565376C>TCA430502418SLC40A1c.738G>A (p.Leu246=)
c.618G>A (p.Leu206=)
2g.189565377A>CCA349988541SLC40A1c.737T>G (p.Leu246Trp)
c.617T>G (p.Leu206Trp)
2g.189565377A>GCA349988542SLC40A1c.737T>C (p.Leu246Ser)
c.617T>C (p.Leu206Ser)
2g.189565377A>TCA349988543SLC40A1c.737T>A (p.Leu246Ter)
c.617T>A (p.Leu206Ter)
2g.189565378A>CCA349988544SLC40A1c.736T>G (p.Leu246Val)
c.616T>G (p.Leu206Val)
2g.189565378A>GCA430502419SLC40A1c.736T>C (p.Leu246=)
c.616T>C (p.Leu206=)
 ClinVar gnomAD v4
2g.189565378A>TCA349988545SLC40A1c.736T>A (p.Leu246Met)
c.616T>A (p.Leu206Met)
2g.189565379T>ACA349988546SLC40A1c.735A>T (p.Glu245Asp)
c.615A>T (p.Glu205Asp)
2g.189565379T>CCA430502420SLC40A1c.735A>G (p.Glu245=)
c.615A>G (p.Glu205=)
2g.189565379T>GCA349988547SLC40A1c.735A>C (p.Glu245Asp)
c.615A>C (p.Glu205Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.189565379T=CA1315655717SLC40A1c.735A= (p.Glu245=)
c.615A= (p.Glu205=)
2g.189565380T>ACA349988548SLC40A1c.734A>T (p.Glu245Val)
c.614A>T (p.Glu205Val)
2g.189565380T>CCA349988550SLC40A1c.734A>G (p.Glu245Gly)
c.614A>G (p.Glu205Gly)
2g.189565380T>GCA349988549SLC40A1c.734A>C (p.Glu245Ala)
c.614A>C (p.Glu205Ala)
2g.189565381C>ACA349988551SLC40A1c.733G>T (p.Glu245Ter)
c.613G>T (p.Glu205Ter)
2g.189565381C>GCA349988552SLC40A1c.733G>C (p.Glu245Gln)
c.613G>C (p.Glu205Gln)
2g.189565381C>TCA349988553SLC40A1c.733G>A (p.Glu245Lys)
c.613G>A (p.Glu205Lys)
2g.189565382A=CA1315655722SLC40A1c.732T= (p.Thr244=)
c.612T= (p.Thr204=)
2g.189565382A>CCA430502424SLC40A1c.732T>G (p.Thr244=)
c.612T>G (p.Thr204=)
 gnomAD v4
2g.189565382A>GCA430502426SLC40A1c.732T>C (p.Thr244=)
c.612T>C (p.Thr204=)
 dbSNP
2g.189565382A>TCA430502425SLC40A1c.732T>A (p.Thr244=)
c.612T>A (p.Thr204=)
2g.189565383G>ACA349988554SLC40A1c.731C>T (p.Thr244Ile)
c.611C>T (p.Thr204Ile)
2g.189565383G>CCA349988555SLC40A1c.731C>G (p.Thr244Ser)
c.611C>G (p.Thr204Ser)
2g.189565383G>TCA349988556SLC40A1c.731C>A (p.Thr244Asn)
c.611C>A (p.Thr204Asn)
2g.189565384T>ACA349988559SLC40A1c.730A>T (p.Thr244Ser)
c.610A>T (p.Thr204Ser)
2g.189565384T>CCA349988557SLC40A1c.730A>G (p.Thr244Ala)
c.610A>G (p.Thr204Ala)
2g.189565384T>GCA349988558SLC40A1c.730A>C (p.Thr244Pro)
c.610A>C (p.Thr204Pro)
2g.189565385T>ACA349988560SLC40A1c.729A>T (p.Glu243Asp)
c.609A>T (p.Glu203Asp)
2g.189565385T>CCA430502429SLC40A1c.729A>G (p.Glu243=)
c.609A>G (p.Glu203=)
2g.189565385T>GCA349988561SLC40A1c.729A>C (p.Glu243Asp)
c.609A>C (p.Glu203Asp)
2g.189565386T>ACA349988562SLC40A1c.728A>T (p.Glu243Val)
c.608A>T (p.Glu203Val)
2g.189565386T>CCA349988563SLC40A1c.728A>G (p.Glu243Gly)
c.608A>G (p.Glu203Gly)
2g.189565386T>GCA349988564SLC40A1c.728A>C (p.Glu243Ala)
c.608A>C (p.Glu203Ala)
2g.189565387C>ACA349988567SLC40A1c.727G>T (p.Glu243Ter)
c.607G>T (p.Glu203Ter)
2g.189565387C>GCA349988565SLC40A1c.727G>C (p.Glu243Gln)
c.607G>C (p.Glu203Gln)
2g.189565387C>TCA349988566SLC40A1c.727G>A (p.Glu243Lys)
c.607G>A (p.Glu203Lys)
2g.189565388C>ACA349988568SLC40A1c.726G>T (p.Glu242Asp)
c.606G>T (p.Glu202Asp)
2g.189565388C=CA1315655724SLC40A1c.726G= (p.Glu242=)
c.606G= (p.Glu202=)
2g.189565388C>GCA349988569SLC40A1c.726G>C (p.Glu242Asp)
c.606G>C (p.Glu202Asp)
2g.189565388C>TCA430502431SLC40A1c.726G>A (p.Glu242=)
c.606G>A (p.Glu202=)
 dbSNP gnomAD v4
2g.189565390_189565391delCA2662329079SLC40A1c.725_726del (p.Glu242GlyfsTer3)
c.605_606del (p.Glu202GlyfsTer3)
 gnomAD v4
2g.189565389T>ACA349988570SLC40A1c.725A>T (p.Glu242Val)
c.605A>T (p.Glu202Val)
2g.189565389T>CCA2024171SLC40A1c.725A>G (p.Glu242Gly)
c.605A>G (p.Glu202Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565389T>GCA349988571SLC40A1c.725A>C (p.Glu242Ala)
c.605A>C (p.Glu202Ala)
2g.189565389T=CA1315655729SLC40A1c.725A= (p.Glu242=)
c.605A= (p.Glu202=)
2g.189565390C>ACA349988572SLC40A1c.724G>T (p.Glu242Ter)
c.604G>T (p.Glu202Ter)
2g.189565390C>GCA349988573SLC40A1c.724G>C (p.Glu242Gln)
c.604G>C (p.Glu202Gln)
2g.189565390C>TCA349988574SLC40A1c.724G>A (p.Glu242Lys)
c.604G>A (p.Glu202Lys)
2g.189565391T>ACA2024172SLC40A1c.723A>T (p.Glu241Asp)
c.603A>T (p.Glu201Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565391T>CCA430502435SLC40A1c.723A>G (p.Glu241=)
c.603A>G (p.Glu201=)
 dbSNP gnomAD v3 gnomAD v4
2g.189565391T>GCA349988575SLC40A1c.723A>C (p.Glu241Asp)
c.603A>C (p.Glu201Asp)
2g.189565391T=CA1315655733SLC40A1c.723A= (p.Glu241=)
c.603A= (p.Glu201=)
2g.189565392T>ACA349988576SLC40A1c.722A>T (p.Glu241Val)
c.602A>T (p.Glu201Val)
 gnomAD v4
2g.189565392T>CCA349988577SLC40A1c.722A>G (p.Glu241Gly)
c.602A>G (p.Glu201Gly)
2g.189565392T>GCA349988578SLC40A1c.722A>C (p.Glu241Ala)
c.602A>C (p.Glu201Ala)
2g.189565393C>ACA349988579SLC40A1c.721G>T (p.Glu241Ter)
c.601G>T (p.Glu201Ter)
2g.189565393C>GCA349988581SLC40A1c.721G>C (p.Glu241Gln)
c.601G>C (p.Glu201Gln)
2g.189565393C>TCA349988580SLC40A1c.721G>A (p.Glu241Lys)
c.601G>A (p.Glu201Lys)
2g.189565393_189565396delinsCTTTCA1315655736SLC40A1c.718_721delinsAAAG (p.Lys240=)
c.598_601delinsAAAG (p.Lys200=)
2g.189565394T>ACA349988582SLC40A1c.720A>T (p.Lys240Asn)
c.600A>T (p.Lys200Asn)
2g.189565394T>CCA430502442SLC40A1c.720A>G (p.Lys240=)
c.600A>G (p.Lys200=)
2g.189565394T>GCA349988583SLC40A1c.720A>C (p.Lys240Asn)
c.600A>C (p.Lys200Asn)
2g.189565394_189565396delCA2024173SLC40A1c.718_720del (p.Lys240del)
c.598_600del (p.Lys200del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565395T>ACA349988584SLC40A1c.719A>T (p.Lys240Ile)
c.599A>T (p.Lys200Ile)
2g.189565395T>CCA349988585SLC40A1c.719A>G (p.Lys240Arg)
c.599A>G (p.Lys200Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.189565395T>GCA349988586SLC40A1c.719A>C (p.Lys240Thr)
c.599A>C (p.Lys200Thr)
2g.189565395T=CA1315655743SLC40A1c.719A= (p.Lys240=)
c.599A= (p.Lys200=)
2g.189565396T>ACA349988587SLC40A1c.718A>T (p.Lys240Ter)
c.598A>T (p.Lys200Ter)
2g.189565396T>CCA349988588SLC40A1c.718A>G (p.Lys240Glu)
c.598A>G (p.Lys200Glu)
 dbSNP gnomAD v4
2g.189565396T>GCA349988589SLC40A1c.718A>C (p.Lys240Gln)
c.598A>C (p.Lys200Gln)
2g.189565396T=CA1315655746SLC40A1c.718A= (p.Lys240=)
c.598A= (p.Lys200=)
2g.189565397A>CCA430502451SLC40A1c.717T>G (p.Leu239=)
c.597T>G (p.Leu199=)
2g.189565397A>GCA430502450SLC40A1c.717T>C (p.Leu239=)
c.597T>C (p.Leu199=)
2g.189565397A>TCA430502447SLC40A1c.717T>A (p.Leu239=)
c.597T>A (p.Leu199=)
2g.189565398A>CCA349988590SLC40A1c.716T>G (p.Leu239Arg)
c.596T>G (p.Leu199Arg)
2g.189565398A>GCA349988591SLC40A1c.716T>C (p.Leu239Pro)
c.596T>C (p.Leu199Pro)
2g.189565398A>TCA349988592SLC40A1c.716T>A (p.Leu239His)
c.596T>A (p.Leu199His)
2g.189565399G>ACA349988595SLC40A1c.715C>T (p.Leu239Phe)
c.595C>T (p.Leu199Phe)
2g.189565399G>CCA349988593SLC40A1c.715C>G (p.Leu239Val)
c.595C>G (p.Leu199Val)
 gnomAD v4
2g.189565399G>TCA349988594SLC40A1c.715C>A (p.Leu239Ile)
c.595C>A (p.Leu199Ile)
2g.189565400A>CCA430502453SLC40A1c.714T>G (p.Gly238=)
c.594T>G (p.Gly198=)
2g.189565400A>GCA430502454SLC40A1c.714T>C (p.Gly238=)
c.594T>C (p.Gly198=)
2g.189565400A>TCA430502456SLC40A1c.714T>A (p.Gly238=)
c.594T>A (p.Gly198=)

Number of alleles fetched