Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189565263A>GCA2577188100SLC40A1c.760+91T>C (n.760+91T>C)
c.640+91T>C (n.640+91T>C)
2g.189565264C>ACA2577188101SLC40A1c.760+90G>T (n.760+90G>T)
c.640+90G>T (n.640+90G>T)
2g.189565264C>TCA2662328965SLC40A1c.760+90G>A (n.760+90G>A)
c.640+90G>A (n.640+90G>A)
 gnomAD v4
2g.189565266T>CCA762272090SLC40A1c.760+88A>G (n.760+88A>G)
c.640+88A>G (n.640+88A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189565266T=CA1315655605SLC40A1c.760+88A= (n.760+88A=)
c.640+88A= (n.640+88A=)
2g.189565267G>TCA2662328969SLC40A1c.760+87C>A (n.760+87C>A)
c.640+87C>A (n.640+87C>A)
 gnomAD v4
2g.189565269T>CCA762272091SLC40A1c.760+85A>G (n.760+85A>G)
c.640+85A>G (n.640+85A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189565269T=CA1315655606SLC40A1c.760+85A= (n.760+85A=)
c.640+85A= (n.640+85A=)
2g.189565271C>ACA2662328972SLC40A1c.760+83G>T (n.760+83G>T)
c.640+83G>T (n.640+83G>T)
 gnomAD v4
2g.189565271C=CA1315655609SLC40A1c.760+83G= (n.760+83G=)
c.640+83G= (n.640+83G=)
2g.189565271C>TCA762272093SLC40A1c.760+83G>A (n.760+83G>A)
c.640+83G>A (n.640+83G>A)
 dbSNP
2g.189565272A>GCA2662328973SLC40A1c.760+82T>C (n.760+82T>C)
c.640+82T>C (n.640+82T>C)
 gnomAD v4
2g.189565273A>CCA2662328974SLC40A1c.760+81T>G (n.760+81T>G)
c.640+81T>G (n.640+81T>G)
 gnomAD v4
2g.189565273A>GCA2662328975SLC40A1c.760+81T>C (n.760+81T>C)
c.640+81T>C (n.640+81T>C)
 gnomAD v4
2g.189565275T>CCA2662328977SLC40A1c.760+79A>G (n.760+79A>G)
c.640+79A>G (n.640+79A>G)
 gnomAD v4
2g.189565277C>ACA62903051SLC40A1c.760+77G>T (n.760+77G>T)
c.640+77G>T (n.640+77G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189565277C=CA1315655611SLC40A1c.760+77G= (n.760+77G=)
c.640+77G= (n.640+77G=)
2g.189565277C>TCA2753593862SLC40A1c.760+77G>A (n.760+77G>A)
c.640+77G>A (n.640+77G>A)
2g.189565281A=CA1315655612SLC40A1c.760+73T= (n.760+73T=)
c.640+73T= (n.640+73T=)
2g.189565281A>GCA1315655613SLC40A1c.760+73T>C (n.760+73T>C)
c.640+73T>C (n.640+73T>C)
 dbSNP
2g.189565282T>CCA2577188102SLC40A1c.760+72A>G (n.760+72A>G)
c.640+72A>G (n.640+72A>G)
2g.189565283A>TCA2662328980SLC40A1c.760+71T>A (n.760+71T>A)
c.640+71T>A (n.640+71T>A)
 gnomAD v4
2g.189565284G>CCA1040450114SLC40A1c.760+70C>G (n.760+70C>G)
c.640+70C>G (n.640+70C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189565284G=CA1315655615SLC40A1c.760+70C= (n.760+70C=)
c.640+70C= (n.640+70C=)
2g.189565284G>TCA2662328981SLC40A1c.760+70C>A (n.760+70C>A)
c.640+70C>A (n.640+70C>A)
 gnomAD v4
2g.189565286T>ACA1315655617SLC40A1c.760+68A>T (n.760+68A>T)
c.640+68A>T (n.640+68A>T)
 dbSNP
2g.189565286T=CA1315655618SLC40A1c.760+68A= (n.760+68A=)
c.640+68A= (n.640+68A=)
2g.189565287T>CCA2577188103SLC40A1c.760+67A>G (n.760+67A>G)
c.640+67A>G (n.640+67A>G)
2g.189565289G>TCA2662328983SLC40A1c.760+65C>A (n.760+65C>A)
c.640+65C>A (n.640+65C>A)
 gnomAD v4
2g.189565290A>GCA2662328985SLC40A1c.760+64T>C (n.760+64T>C)
c.640+64T>C (n.640+64T>C)
 gnomAD v4
2g.189565292C>TCA2662328986SLC40A1c.760+62G>A (n.760+62G>A)
c.640+62G>A (n.640+62G>A)
 gnomAD v4
2g.189565295C>TCA2662328989SLC40A1c.760+59G>A (n.760+59G>A)
c.640+59G>A (n.640+59G>A)
 gnomAD v4
2g.189565296A>TCA2662328990SLC40A1c.760+58T>A (n.760+58T>A)
c.640+58T>A (n.640+58T>A)
 gnomAD v4
2g.189565297C>ACA762272096SLC40A1c.760+57G>T (n.760+57G>T)
c.640+57G>T (n.640+57G>T)
 dbSNP
2g.189565297C=CA1315655620SLC40A1c.760+57G= (n.760+57G=)
c.640+57G= (n.640+57G=)
2g.189565297C>TCA762272095SLC40A1c.760+57G>A (n.760+57G>A)
c.640+57G>A (n.640+57G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189565298C>GCA2662328994SLC40A1c.760+56G>C (n.760+56G>C)
c.640+56G>C (n.640+56G>C)
 gnomAD v4
2g.189565298C>TCA2662328995SLC40A1c.760+56G>A (n.760+56G>A)
c.640+56G>A (n.640+56G>A)
 gnomAD v4
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)

Number of alleles fetched