Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189563944C>ACA349987856SLC40A1c.1042G>T (p.Ala348Ser)
c.922G>T (p.Ala308Ser)
2g.189563944C=CA1315654205SLC40A1c.1042G= (p.Ala348=)
c.922G= (p.Ala308=)
2g.189563944C>GCA349987855SLC40A1c.1042G>C (p.Ala348Pro)
c.922G>C (p.Ala308Pro)
2g.189563944C>TCA349987854SLC40A1c.1042G>A (p.Ala348Thr)
c.922G>A (p.Ala308Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.189563945T>ACA430502989SLC40A1c.1041A>T (p.Gly347=)
c.921A>T (p.Gly307=)
2g.189563945T>CCA430502990SLC40A1c.1041A>G (p.Gly347=)
c.921A>G (p.Gly307=)
 gnomAD v4
2g.189563945T>GCA430502991SLC40A1c.1041A>C (p.Gly347=)
c.921A>C (p.Gly307=)
2g.189563946C>ACA349987858SLC40A1c.1040G>T (p.Gly347Val)
c.920G>T (p.Gly307Val)
2g.189563946C>GCA349987857SLC40A1c.1040G>C (p.Gly347Ala)
c.920G>C (p.Gly307Ala)
 gnomAD v4
2g.189563946C>TCA349987859SLC40A1c.1040G>A (p.Gly347Glu)
c.920G>A (p.Gly307Glu)
2g.189563947C>ACA349987860SLC40A1c.1039G>T (p.Gly347Ter)
c.919G>T (p.Gly307Ter)
2g.189563947C>GCA349987862SLC40A1c.1039G>C (p.Gly347Arg)
c.919G>C (p.Gly307Arg)
2g.189563947C>TCA349987861SLC40A1c.1039G>A (p.Gly347Arg)
c.919G>A (p.Gly307Arg)
2g.189563948C>ACA349987863SLC40A1c.1038G>T (p.Met346Ile)
c.918G>T (p.Met306Ile)
2g.189563948C=CA1315654207SLC40A1c.1038G= (p.Met346=)
c.918G= (p.Met306=)
2g.189563948C>GCA349987864SLC40A1c.1038G>C (p.Met346Ile)
c.918G>C (p.Met306Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189563948C>TCA349987865SLC40A1c.1038G>A (p.Met346Ile)
c.918G>A (p.Met306Ile)
 COSMIC
2g.189563949A=CA1315654210SLC40A1c.1037T= (p.Met346=)
c.917T= (p.Met306=)
2g.189563949A>CCA349987866SLC40A1c.1037T>G (p.Met346Arg)
c.917T>G (p.Met306Arg)
2g.189563949A>GCA2024126SLC40A1c.1037T>C (p.Met346Thr)
c.917T>C (p.Met306Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563949A>TCA349987867SLC40A1c.1037T>A (p.Met346Lys)
c.917T>A (p.Met306Lys)
2g.189563950T>ACA349987868SLC40A1c.1036A>T (p.Met346Leu)
c.916A>T (p.Met306Leu)
2g.189563950T>CCA349987869SLC40A1c.1036A>G (p.Met346Val)
c.916A>G (p.Met306Val)
2g.189563950T>GCA349987870SLC40A1c.1036A>C (p.Met346Leu)
c.916A>C (p.Met306Leu)
2g.189563950_189563951insACA2753593828SLC40A1c.1035_1036insT (p.Met346TyrfsTer?)
c.915_916insT (p.Met306TyrfsTer?)
2g.189563951C>ACA349987871SLC40A1c.1035G>T (p.Leu345Phe)
c.915G>T (p.Leu305Phe)
 ClinVar gnomAD v4
2g.189563951C=CA1315654212SLC40A1c.1035G= (p.Leu345=)
c.915G= (p.Leu305=)
2g.189563951C>GCA349987872SLC40A1c.1035G>C (p.Leu345Phe)
c.915G>C (p.Leu305Phe)
 ClinVar dbSNP gnomAD v4
2g.189563951C>TCA430502998SLC40A1c.1035G>A (p.Leu345=)
c.915G>A (p.Leu305=)
 ClinVar dbSNP gnomAD v4
2g.189563952A>CCA349987875SLC40A1c.1034T>G (p.Leu345Trp)
c.914T>G (p.Leu305Trp)
2g.189563952A>GCA349987873SLC40A1c.1034T>C (p.Leu345Ser)
c.914T>C (p.Leu305Ser)
2g.189563952A>TCA349987874SLC40A1c.1034T>A (p.Leu345Ter)
c.914T>A (p.Leu305Ter)
2g.189563953A=CA1315654216SLC40A1c.1033T= (p.Leu345=)
c.913T= (p.Leu305=)
2g.189563953A>CCA349987876SLC40A1c.1033T>G (p.Leu345Val)
c.913T>G (p.Leu305Val)
2g.189563953A>GCA430503000SLC40A1c.1033T>C (p.Leu345=)
c.913T>C (p.Leu305=)
 dbSNP
2g.189563953A>TCA349987877SLC40A1c.1033T>A (p.Leu345Met)
c.913T>A (p.Leu305Met)
2g.189563954A>CCA349987878SLC40A1c.1032T>G (p.Ile344Met)
c.912T>G (p.Ile304Met)
2g.189563954A>GCA430503001SLC40A1c.1032T>C (p.Ile344=)
c.912T>C (p.Ile304=)
2g.189563954A>TCA430503002SLC40A1c.1032T>A (p.Ile344=)
c.912T>A (p.Ile304=)
2g.189563955A>CCA349987879SLC40A1c.1031T>G (p.Ile344Ser)
c.911T>G (p.Ile304Ser)
2g.189563955A>GCA349987880SLC40A1c.1031T>C (p.Ile344Thr)
c.911T>C (p.Ile304Thr)
 gnomAD v4
2g.189563955A>TCA349987881SLC40A1c.1031T>A (p.Ile344Asn)
c.911T>A (p.Ile304Asn)
2g.189563956T>ACA349987882SLC40A1c.1030A>T (p.Ile344Phe)
c.910A>T (p.Ile304Phe)
2g.189563956T>CCA349987883SLC40A1c.1030A>G (p.Ile344Val)
c.910A>G (p.Ile304Val)
 dbSNP gnomAD v2 gnomAD v4
2g.189563956T>GCA349987884SLC40A1c.1030A>C (p.Ile344Leu)
c.910A>C (p.Ile304Leu)
2g.189563956T=CA1315654218SLC40A1c.1030A= (p.Ile344=)
c.910A= (p.Ile304=)
2g.189563957A>CCA349987885SLC40A1c.1029T>G (p.Ser343Arg)
c.909T>G (p.Ser303Arg)
2g.189563957A>GCA430503007SLC40A1c.1029T>C (p.Ser343=)
c.909T>C (p.Ser303=)
2g.189563957A>TCA349987886SLC40A1c.1029T>A (p.Ser343Arg)
c.909T>A (p.Ser303Arg)
2g.189563958C>ACA349987888SLC40A1c.1028G>T (p.Ser343Ile)
c.908G>T (p.Ser303Ile)
2g.189563958C>GCA349987889SLC40A1c.1028G>C (p.Ser343Thr)
c.908G>C (p.Ser303Thr)
2g.189563958C>TCA349987887SLC40A1c.1028G>A (p.Ser343Asn)
c.908G>A (p.Ser303Asn)
2g.189563959T>ACA349987890SLC40A1c.1027A>T (p.Ser343Cys)
c.907A>T (p.Ser303Cys)
2g.189563959T>CCA2024127SLC40A1c.1027A>G (p.Ser343Gly)
c.907A>G (p.Ser303Gly)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.189563959T>GCA349987891SLC40A1c.1027A>C (p.Ser343Arg)
c.907A>C (p.Ser303Arg)
 gnomAD v4
2g.189563959T=CA1315654221SLC40A1c.1027A= (p.Ser343=)
c.907A= (p.Ser303=)
2g.189563960G>ACA430503009SLC40A1c.1026C>T (p.Leu342=)
c.906C>T (p.Leu302=)
 COSMIC
2g.189563960G>CCA430503010SLC40A1c.1026C>G (p.Leu342=)
c.906C>G (p.Leu302=)
2g.189563960G>TCA430503011SLC40A1c.1026C>A (p.Leu342=)
c.906C>A (p.Leu302=)
2g.189563961A>CCA349987892SLC40A1c.1025T>G (p.Leu342Arg)
c.905T>G (p.Leu302Arg)
2g.189563961A>GCA349987893SLC40A1c.1025T>C (p.Leu342Pro)
c.905T>C (p.Leu302Pro)
2g.189563961A>TCA349987894SLC40A1c.1025T>A (p.Leu342His)
c.905T>A (p.Leu302His)
2g.189563962G>ACA62902900SLC40A1c.1024C>T (p.Leu342Phe)
c.904C>T (p.Leu302Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.189563962G>CCA349987895SLC40A1c.1024C>G (p.Leu342Val)
c.904C>G (p.Leu302Val)
 gnomAD v4
2g.189563962G=CA1315654228SLC40A1c.1024C= (p.Leu342=)
c.904C= (p.Leu302=)
2g.189563962G>TCA349987896SLC40A1c.1024C>A (p.Leu342Ile)
c.904C>A (p.Leu302Ile)
2g.189563963G>ACA430503013SLC40A1c.1023C>T (p.Ile341=)
c.903C>T (p.Ile301=)
 gnomAD v4
2g.189563963G>CCA349987897SLC40A1c.1023C>G (p.Ile341Met)
c.903C>G (p.Ile301Met)
2g.189563963G>TCA430503015SLC40A1c.1023C>A (p.Ile341=)
c.903C>A (p.Ile301=)
2g.189563964A>CCA349987898SLC40A1c.1022T>G (p.Ile341Ser)
c.902T>G (p.Ile301Ser)
2g.189563964A>GCA349987899SLC40A1c.1022T>C (p.Ile341Thr)
c.902T>C (p.Ile301Thr)
 gnomAD v4
2g.189563964A>TCA349987900SLC40A1c.1022T>A (p.Ile341Asn)
c.902T>A (p.Ile301Asn)
2g.189563965T>ACA349987903SLC40A1c.1021A>T (p.Ile341Phe)
c.901A>T (p.Ile301Phe)
 COSMIC
2g.189563965T>CCA349987902SLC40A1c.1021A>G (p.Ile341Val)
c.901A>G (p.Ile301Val)
 COSMIC
2g.189563965T>GCA349987901SLC40A1c.1021A>C (p.Ile341Leu)
c.901A>C (p.Ile301Leu)
2g.189563966G>ACA430503017SLC40A1c.1020C>T (p.Ser340=)
c.900C>T (p.Ser300=)
 dbSNP
2g.189563966G>CCA430503018SLC40A1c.1020C>G (p.Ser340=)
c.900C>G (p.Ser300=)
2g.189563966G=CA1315654234SLC40A1c.1020C= (p.Ser340=)
c.900C= (p.Ser300=)
2g.189563966G>TCA430503019SLC40A1c.1020C>A (p.Ser340=)
c.900C>A (p.Ser300=)
2g.189563967G>ACA349987904SLC40A1c.1019C>T (p.Ser340Phe)
c.899C>T (p.Ser300Phe)
2g.189563967G>CCA349987905SLC40A1c.1019C>G (p.Ser340Cys)
c.899C>G (p.Ser300Cys)
2g.189563967G>TCA349987906SLC40A1c.1019C>A (p.Ser340Tyr)
c.899C>A (p.Ser300Tyr)
2g.189563968A>CCA349987907SLC40A1c.1018T>G (p.Ser340Ala)
c.898T>G (p.Ser300Ala)
2g.189563968A>GCA349987908SLC40A1c.1018T>C (p.Ser340Pro)
c.898T>C (p.Ser300Pro)
2g.189563968A>TCA349987909SLC40A1c.1018T>A (p.Ser340Thr)
c.898T>A (p.Ser300Thr)
2g.189563969A=CA1315654237SLC40A1c.1017T= (p.Gly339=)
c.897T= (p.Gly299=)
2g.189563969A>CCA430503022SLC40A1c.1017T>G (p.Gly339=)
c.897T>G (p.Gly299=)
2g.189563969A>GCA430503021SLC40A1c.1017T>C (p.Gly339=)
c.897T>C (p.Gly299=)
2g.189563969A>TCA2024128SLC40A1c.1017T>A (p.Gly339=)
c.897T>A (p.Gly299=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563970C>ACA349987910SLC40A1c.1016G>T (p.Gly339Val)
c.896G>T (p.Gly299Val)
2g.189563970C>GCA349987911SLC40A1c.1016G>C (p.Gly339Ala)
c.896G>C (p.Gly299Ala)
2g.189563970C>TCA349987912SLC40A1c.1016G>A (p.Gly339Asp)
c.896G>A (p.Gly299Asp)
2g.189563971C>ACA349987913SLC40A1c.1015G>T (p.Gly339Cys)
c.895G>T (p.Gly299Cys)
2g.189563971C>GCA349987914SLC40A1c.1015G>C (p.Gly339Arg)
c.895G>C (p.Gly299Arg)
2g.189563971C>TCA349987915SLC40A1c.1015G>A (p.Gly339Ser)
c.895G>A (p.Gly299Ser)
2g.189563972A=CA1315654240SLC40A1c.1014T= (p.Ser338=)
c.894T= (p.Ser298=)
2g.189563972A>CCA349987916SLC40A1c.1014T>G (p.Ser338Arg)
c.894T>G (p.Ser298Arg)
 dbSNP gnomAD v4
2g.189563972A>GCA430503024SLC40A1c.1014T>C (p.Ser338=)
c.894T>C (p.Ser298=)
2g.189563972A>TCA349987917SLC40A1c.1014T>A (p.Ser338Arg)
c.894T>A (p.Ser298Arg)
2g.189563973C>ACA349987918SLC40A1c.1013G>T (p.Ser338Ile)
c.893G>T (p.Ser298Ile)
2g.189563973C=CA1315654242SLC40A1c.1013G= (p.Ser338=)
c.893G= (p.Ser298=)
2g.189563973C>GCA349987920SLC40A1c.1013G>C (p.Ser338Thr)
c.893G>C (p.Ser298Thr)
2g.189563973C>TCA349987919SLC40A1c.1013G>A (p.Ser338Asn)
c.893G>A (p.Ser298Asn)
 dbSNP gnomAD v4
2g.189563974T>ACA349987921SLC40A1c.1012A>T (p.Ser338Cys)
c.892A>T (p.Ser298Cys)
2g.189563974T>CCA349987922SLC40A1c.1012A>G (p.Ser338Gly)
c.892A>G (p.Ser298Gly)
2g.189563974T>GCA349987923SLC40A1c.1012A>C (p.Ser338Arg)
c.892A>C (p.Ser298Arg)
2g.189563975C>ACA430503025SLC40A1c.1011G>T (p.Leu337=)
c.891G>T (p.Leu297=)
2g.189563975C>GCA430503028SLC40A1c.1011G>C (p.Leu337=)
c.891G>C (p.Leu297=)
2g.189563975C>TCA430503027SLC40A1c.1011G>A (p.Leu337=)
c.891G>A (p.Leu297=)
 gnomAD v4
2g.189563976A>CCA349987924SLC40A1c.1010T>G (p.Leu337Arg)
c.890T>G (p.Leu297Arg)
2g.189563976A>GCA349987925SLC40A1c.1010T>C (p.Leu337Pro)
c.890T>C (p.Leu297Pro)
2g.189563976A>TCA349987926SLC40A1c.1010T>A (p.Leu337Gln)
c.890T>A (p.Leu297Gln)
2g.189563977G>ACA430503030SLC40A1c.1009C>T (p.Leu337=)
c.889C>T (p.Leu297=)
 dbSNP gnomAD v3 gnomAD v4
2g.189563977G>CCA2024129SLC40A1c.1009C>G (p.Leu337Val)
c.889C>G (p.Leu297Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563977G=CA1315654245SLC40A1c.1009C= (p.Leu337=)
c.889C= (p.Leu297=)
2g.189563977G>TCA349987927SLC40A1c.1009C>A (p.Leu337Met)
c.889C>A (p.Leu297Met)
2g.189563978T>ACA430503031SLC40A1c.1008A>T (p.Gly336=)
c.888A>T (p.Gly296=)
2g.189563978T>CCA430503032SLC40A1c.1008A>G (p.Gly336=)
c.888A>G (p.Gly296=)
 ClinVar dbSNP
2g.189563978T>GCA430503033SLC40A1c.1008A>C (p.Gly336=)
c.888A>C (p.Gly296=)
 gnomAD v4
2g.189563978T=CA1315654251SLC40A1c.1008A= (p.Gly336=)
c.888A= (p.Gly296=)
2g.189563979C>ACA349987928SLC40A1c.1007G>T (p.Gly336Val)
c.887G>T (p.Gly296Val)
 gnomAD v4
2g.189563979C>GCA349987929SLC40A1c.1007G>C (p.Gly336Ala)
c.887G>C (p.Gly296Ala)
 gnomAD v4
2g.189563979C>TCA349987930SLC40A1c.1007G>A (p.Gly336Glu)
c.887G>A (p.Gly296Glu)
2g.189563980C>ACA349987933SLC40A1c.1006G>T (p.Gly336Ter)
c.886G>T (p.Gly296Ter)
 gnomAD v4
2g.189563980C>GCA349987931SLC40A1c.1006G>C (p.Gly336Arg)
c.886G>C (p.Gly296Arg)
2g.189563980C>TCA349987932SLC40A1c.1006G>A (p.Gly336Arg)
c.886G>A (p.Gly296Arg)
 ClinVar
2g.189563981C>ACA349987934SLC40A1c.1005G>T (p.Gln335His)
c.885G>T (p.Gln295His)
2g.189563981C=CA1315654255SLC40A1c.1005G= (p.Gln335=)
c.885G= (p.Gln295=)
2g.189563981C>GCA349987935SLC40A1c.1005G>C (p.Gln335His)
c.885G>C (p.Gln295His)
2g.189563981C>TCA62902901SLC40A1c.1005G>A (p.Gln335=)
c.885G>A (p.Gln295=)
 ClinVar dbSNP
2g.189563982T>ACA349987936SLC40A1c.1004A>T (p.Gln335Leu)
c.884A>T (p.Gln295Leu)
2g.189563982T>CCA349987937SLC40A1c.1004A>G (p.Gln335Arg)
c.884A>G (p.Gln295Arg)
 dbSNP
2g.189563982T>GCA349987938SLC40A1c.1004A>C (p.Gln335Pro)
c.884A>C (p.Gln295Pro)
2g.189563982T=CA1315654258SLC40A1c.1004A= (p.Gln335=)
c.884A= (p.Gln295=)
2g.189563983G>ACA349987939SLC40A1c.1003C>T (p.Gln335Ter)
c.883C>T (p.Gln295Ter)
 COSMIC
2g.189563983G>CCA349987940SLC40A1c.1003C>G (p.Gln335Glu)
c.883C>G (p.Gln295Glu)
2g.189563983G>TCA349987941SLC40A1c.1003C>A (p.Gln335Lys)
c.883C>A (p.Gln295Lys)
2g.189563984A>CCA430503038SLC40A1c.1002T>G (p.Thr334=)
c.882T>G (p.Thr294=)
2g.189563984A>GCA430503039SLC40A1c.1002T>C (p.Thr334=)
c.882T>C (p.Thr294=)
2g.189563984A>TCA430503040SLC40A1c.1002T>A (p.Thr334=)
c.882T>A (p.Thr294=)
2g.189563985G>ACA349987942SLC40A1c.1001C>T (p.Thr334Ile)
c.881C>T (p.Thr294Ile)
2g.189563985G>CCA349987943SLC40A1c.1001C>G (p.Thr334Ser)
c.881C>G (p.Thr294Ser)
2g.189563985G>TCA349987944SLC40A1c.1001C>A (p.Thr334Asn)
c.881C>A (p.Thr294Asn)
2g.189563986T>ACA349987946SLC40A1c.1000A>T (p.Thr334Ser)
c.880A>T (p.Thr294Ser)
2g.189563986T>CCA349987947SLC40A1c.1000A>G (p.Thr334Ala)
c.880A>G (p.Thr294Ala)
2g.189563986T>GCA349987945SLC40A1c.1000A>C (p.Thr334Pro)
c.880A>C (p.Thr294Pro)
2g.189563987G>ACA430503042SLC40A1c.999C>T (p.Tyr333=)
c.879C>T (p.Tyr293=)
 gnomAD v4
2g.189563987G>CCA349987948SLC40A1c.999C>G (p.Tyr333Ter)
c.879C>G (p.Tyr293Ter)
2g.189563987G>TCA349987949SLC40A1c.999C>A (p.Tyr333Ter)
c.879C>A (p.Tyr293Ter)
2g.189563988T>ACA349987950SLC40A1c.998A>T (p.Tyr333Phe)
c.878A>T (p.Tyr293Phe)
2g.189563988T>CCA349987951SLC40A1c.998A>G (p.Tyr333Cys)
c.878A>G (p.Tyr293Cys)
2g.189563988T>GCA349987952SLC40A1c.998A>C (p.Tyr333Ser)
c.878A>C (p.Tyr293Ser)
2g.189563989A>CCA349987955SLC40A1c.997T>G (p.Tyr333Asp)
c.877T>G (p.Tyr293Asp)
2g.189563989A>GCA349987954SLC40A1c.997T>C (p.Tyr333His)
c.877T>C (p.Tyr293His)
2g.189563989A>TCA349987953SLC40A1c.997T>A (p.Tyr333Asn)
c.877T>A (p.Tyr293Asn)
 gnomAD v4
2g.189563990G>ACA430503046SLC40A1c.996C>T (p.Ala332=)
c.876C>T (p.Ala292=)
2g.189563990G>CCA430503048SLC40A1c.996C>G (p.Ala332=)
c.876C>G (p.Ala292=)
2g.189563990G>TCA430503044SLC40A1c.996C>A (p.Ala332=)
c.876C>A (p.Ala292=)
2g.189563991G>ACA349987956SLC40A1c.995C>T (p.Ala332Val)
c.875C>T (p.Ala292Val)
2g.189563991G>CCA349987957SLC40A1c.995C>G (p.Ala332Gly)
c.875C>G (p.Ala292Gly)
2g.189563991G>TCA349987958SLC40A1c.995C>A (p.Ala332Asp)
c.875C>A (p.Ala292Asp)
2g.189563992C>ACA349987959SLC40A1c.994G>T (p.Ala332Ser)
c.874G>T (p.Ala292Ser)
2g.189563992C=CA1315654260SLC40A1c.994G= (p.Ala332=)
c.874G= (p.Ala292=)
2g.189563992C>GCA349987960SLC40A1c.994G>C (p.Ala332Pro)
c.874G>C (p.Ala292Pro)
2g.189563992C>TCA349987961SLC40A1c.994G>A (p.Ala332Thr)
c.874G>A (p.Ala292Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.189563993G>ACA2024130SLC40A1c.993C>T (p.Tyr331=)
c.873C>T (p.Tyr291=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563993G>CCA349987963SLC40A1c.993C>G (p.Tyr331Ter)
c.873C>G (p.Tyr291Ter)
2g.189563993G=CA1315654263SLC40A1c.993C= (p.Tyr331=)
c.873C= (p.Tyr291=)
2g.189563993G>TCA349987962SLC40A1c.993C>A (p.Tyr331Ter)
c.873C>A (p.Tyr291Ter)
2g.189563994T>ACA349987964SLC40A1c.992A>T (p.Tyr331Phe)
c.872A>T (p.Tyr291Phe)
2g.189563994T>CCA349987965SLC40A1c.992A>G (p.Tyr331Cys)
c.872A>G (p.Tyr291Cys)
2g.189563994T>GCA349987966SLC40A1c.992A>C (p.Tyr331Ser)
c.872A>C (p.Tyr291Ser)
2g.189563995A>CCA349987967SLC40A1c.991T>G (p.Tyr331Asp)
c.871T>G (p.Tyr291Asp)
2g.189563995A>GCA349987968SLC40A1c.991T>C (p.Tyr331His)
c.871T>C (p.Tyr291His)
 COSMIC
2g.189563995A>TCA349987969SLC40A1c.991T>A (p.Tyr331Asn)
c.871T>A (p.Tyr291Asn)
2g.189563996C>ACA430503049SLC40A1c.990G>T (p.Gly330=)
c.870G>T (p.Gly290=)
2g.189563996C=CA1315654266SLC40A1c.990G= (p.Gly330=)
c.870G= (p.Gly290=)
2g.189563996C>GCA430503051SLC40A1c.990G>C (p.Gly330=)
c.870G>C (p.Gly290=)
2g.189563996C>TCA430503050SLC40A1c.990G>A (p.Gly330=)
c.870G>A (p.Gly290=)
 dbSNP gnomAD v3 gnomAD v4
2g.189563997C>ACA349987970SLC40A1c.989G>T (p.Gly330Val)
c.869G>T (p.Gly290Val)
2g.189563997C>GCA349987971SLC40A1c.989G>C (p.Gly330Ala)
c.869G>C (p.Gly290Ala)
2g.189563997C>TCA349987972SLC40A1c.989G>A (p.Gly330Glu)
c.869G>A (p.Gly290Glu)
 gnomAD v4
2g.189563998C>ACA349987973SLC40A1c.988G>T (p.Gly330Trp)
c.868G>T (p.Gly290Trp)
2g.189563998C>GCA349987974SLC40A1c.988G>C (p.Gly330Arg)
c.868G>C (p.Gly290Arg)
2g.189563998C>TCA349987975SLC40A1c.988G>A (p.Gly330Arg)
c.868G>A (p.Gly290Arg)
2g.189563999T>ACA430503055SLC40A1c.987A>T (p.Thr329=)
c.867A>T (p.Thr289=)
2g.189563999T>CCA430503056SLC40A1c.987A>G (p.Thr329=)
c.867A>G (p.Thr289=)
2g.189563999T>GCA430503057SLC40A1c.987A>C (p.Thr329=)
c.867A>C (p.Thr289=)
2g.189564000G>ACA349987977SLC40A1c.986C>T (p.Thr329Ile)
c.866C>T (p.Thr289Ile)
2g.189564000G>CCA349987978SLC40A1c.986C>G (p.Thr329Arg)
c.866C>G (p.Thr289Arg)
2g.189564000G>TCA349987976SLC40A1c.986C>A (p.Thr329Lys)
c.866C>A (p.Thr289Lys)
2g.189564001T>ACA349987979SLC40A1c.985A>T (p.Thr329Ser)
c.865A>T (p.Thr289Ser)
2g.189564001T>CCA349987981SLC40A1c.985A>G (p.Thr329Ala)
c.865A>G (p.Thr289Ala)
 gnomAD v4
2g.189564001T>GCA349987980SLC40A1c.985A>C (p.Thr329Pro)
c.865A>C (p.Thr289Pro)
2g.189564002G>ACA430503059SLC40A1c.984C>T (p.Thr328=)
c.864C>T (p.Thr288=)
 dbSNP gnomAD v4
2g.189564002G>CCA430503060SLC40A1c.984C>G (p.Thr328=)
c.864C>G (p.Thr288=)
2g.189564002G=CA1315654268SLC40A1c.984C= (p.Thr328=)
c.864C= (p.Thr288=)
2g.189564002G>TCA430503061SLC40A1c.984C>A (p.Thr328=)
c.864C>A (p.Thr288=)
2g.189564003G>ACA349987982SLC40A1c.983C>T (p.Thr328Ile)
c.863C>T (p.Thr288Ile)
 gnomAD v4
2g.189564003G>CCA349987984SLC40A1c.983C>G (p.Thr328Ser)
c.863C>G (p.Thr288Ser)
2g.189564003G>TCA349987983SLC40A1c.983C>A (p.Thr328Asn)
c.863C>A (p.Thr288Asn)
 gnomAD v4
2g.189564004T>ACA349987985SLC40A1c.982A>T (p.Thr328Ser)
c.862A>T (p.Thr288Ser)
2g.189564004T>CCA62902902SLC40A1c.982A>G (p.Thr328Ala)
c.862A>G (p.Thr288Ala)
 dbSNP
2g.189564004T>GCA349987986SLC40A1c.982A>C (p.Thr328Pro)
c.862A>C (p.Thr288Pro)
2g.189564004T=CA1315654271SLC40A1c.982A= (p.Thr328=)
c.862A= (p.Thr288=)
2g.189564005G>ACA62902903SLC40A1c.981C>T (p.Ile327=)
c.861C>T (p.Ile287=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189564005G>CCA349987987SLC40A1c.981C>G (p.Ile327Met)
c.861C>G (p.Ile287Met)
2g.189564005G=CA1315654274SLC40A1c.981C= (p.Ile327=)
c.861C= (p.Ile287=)
2g.189564005G>TCA430503063SLC40A1c.981C>A (p.Ile327=)
c.861C>A (p.Ile287=)
2g.189564006A>CCA349987988SLC40A1c.980T>G (p.Ile327Ser)
c.860T>G (p.Ile287Ser)
2g.189564006A>GCA349987989SLC40A1c.980T>C (p.Ile327Thr)
c.860T>C (p.Ile287Thr)
2g.189564006A>TCA349987990SLC40A1c.980T>A (p.Ile327Asn)
c.860T>A (p.Ile287Asn)
2g.189564007T>ACA349987991SLC40A1c.979A>T (p.Ile327Phe)
c.859A>T (p.Ile287Phe)
2g.189564007T>CCA349987992SLC40A1c.979A>G (p.Ile327Val)
c.859A>G (p.Ile287Val)
 ClinVar dbSNP gnomAD v4
2g.189564007T>GCA349987993SLC40A1c.979A>C (p.Ile327Leu)
c.859A>C (p.Ile287Leu)
2g.189564007T=CA1315654277SLC40A1c.979A= (p.Ile327=)
c.859A= (p.Ile287=)
2g.189564008G>ACA430503065SLC40A1c.978C>T (p.Cys326=)
c.858C>T (p.Cys286=)
2g.189564008G>CCA349987995SLC40A1c.978C>G (p.Cys326Trp)
c.858C>G (p.Cys286Trp)
2g.189564008G>TCA349987994SLC40A1c.978C>A (p.Cys326Ter)
c.858C>A (p.Cys286Ter)
2g.189564009C>ACA349987996SLC40A1c.977G>T (p.Cys326Phe)
c.857G>T (p.Cys286Phe)
 ClinVar
2g.189564009C=CA1315654280SLC40A1c.977G= (p.Cys326=)
c.857G= (p.Cys286=)
2g.189564009C>GCA349987997SLC40A1c.977G>C (p.Cys326Ser)
c.857G>C (p.Cys286Ser)
 dbSNP
2g.189564009C>TCA349987998SLC40A1c.977G>A (p.Cys326Tyr)
c.857G>A (p.Cys286Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189564010A>CCA349987999SLC40A1c.976T>G (p.Cys326Gly)
c.856T>G (p.Cys286Gly)
2g.189564010A>GCA349988000SLC40A1c.976T>C (p.Cys326Arg)
c.856T>C (p.Cys286Arg)
2g.189564010A>TCA349988001SLC40A1c.976T>A (p.Cys326Ser)
c.856T>A (p.Cys286Ser)
2g.189564011G>ACA430503068SLC40A1c.975C>T (p.Asp325=)
c.855C>T (p.Asp285=)
 dbSNP gnomAD v4
2g.189564011G>CCA349988002SLC40A1c.975C>G (p.Asp325Glu)
c.855C>G (p.Asp285Glu)
2g.189564011G=CA1315654283SLC40A1c.975C= (p.Asp325=)
c.855C= (p.Asp285=)
2g.189564011G>TCA349988003SLC40A1c.975C>A (p.Asp325Glu)
c.855C>A (p.Asp285Glu)
2g.189564012T>ACA349988004SLC40A1c.974A>T (p.Asp325Val)
c.854A>T (p.Asp285Val)
2g.189564012T>CCA349988005SLC40A1c.974A>G (p.Asp325Gly)
c.854A>G (p.Asp285Gly)
2g.189564012T>GCA349988006SLC40A1c.974A>C (p.Asp325Ala)
c.854A>C (p.Asp285Ala)
2g.189564013C>ACA349988008SLC40A1c.973G>T (p.Asp325Tyr)
c.853G>T (p.Asp285Tyr)
2g.189564013C>GCA349988009SLC40A1c.973G>C (p.Asp325His)
c.853G>C (p.Asp285His)
2g.189564013C>TCA349988007SLC40A1c.973G>A (p.Asp325Asn)
c.853G>A (p.Asp285Asn)
2g.189564014A>CCA349988010SLC40A1c.972T>G (p.Phe324Leu)
c.852T>G (p.Phe284Leu)
2g.189564014A>GCA430503072SLC40A1c.972T>C (p.Phe324=)
c.852T>C (p.Phe284=)
2g.189564014A>TCA349988011SLC40A1c.972T>A (p.Phe324Leu)
c.852T>A (p.Phe284Leu)
2g.189564015A=CA1315654289SLC40A1c.971T= (p.Phe324=)
c.851T= (p.Phe284=)
2g.189564015A>CCA349988012SLC40A1c.971T>G (p.Phe324Cys)
c.851T>G (p.Phe284Cys)
2g.189564015A>GCA62902904SLC40A1c.971T>C (p.Phe324Ser)
c.851T>C (p.Phe284Ser)
 dbSNP
2g.189564015A>TCA349988013SLC40A1c.971T>A (p.Phe324Tyr)
c.851T>A (p.Phe284Tyr)
2g.189564016A>CCA349988014SLC40A1c.970T>G (p.Phe324Val)
c.850T>G (p.Phe284Val)
 COSMIC
2g.189564016A>GCA349988015SLC40A1c.970T>C (p.Phe324Leu)
c.850T>C (p.Phe284Leu)
2g.189564016A>TCA349988016SLC40A1c.970T>A (p.Phe324Ile)
c.850T>A (p.Phe284Ile)
2g.189564017G>ACA430503074SLC40A1c.969C>T (p.Gly323=)
c.849C>T (p.Gly283=)
 gnomAD v4
2g.189564017G>CCA430503076SLC40A1c.969C>G (p.Gly323=)
c.849C>G (p.Gly283=)
2g.189564017G>TCA430503077SLC40A1c.969C>A (p.Gly323=)
c.849C>A (p.Gly283=)
 COSMIC
2g.189564018C>ACA117523SLC40A1c.968G>T (p.Gly323Val)
c.848G>T (p.Gly283Val)
 ClinVar dbSNP
2g.189564018C=CA1315654296SLC40A1c.968G= (p.Gly323=)
c.848G= (p.Gly283=)
2g.189564018C>GCA349988017SLC40A1c.968G>C (p.Gly323Ala)
c.848G>C (p.Gly283Ala)
2g.189564018C>TCA349988018SLC40A1c.968G>A (p.Gly323Asp)
c.848G>A (p.Gly283Asp)
 ClinVar dbSNP
2g.189564019C>ACA349988020SLC40A1c.967G>T (p.Gly323Cys)
c.847G>T (p.Gly283Cys)
2g.189564019C>GCA349988021SLC40A1c.967G>C (p.Gly323Arg)
c.847G>C (p.Gly283Arg)
2g.189564019C>TCA349988019SLC40A1c.967G>A (p.Gly323Ser)
c.847G>A (p.Gly283Ser)
2g.189564020C>ACA430503078SLC40A1c.966G>T (p.Leu322=)
c.846G>T (p.Leu282=)
2g.189564020C=CA1315654302SLC40A1c.966G= (p.Leu322=)
c.846G= (p.Leu282=)
2g.189564020C>GCA430503079SLC40A1c.966G>C (p.Leu322=)
c.846G>C (p.Leu282=)
2g.189564020C>TCA430503081SLC40A1c.966G>A (p.Leu322=)
c.846G>A (p.Leu282=)
 dbSNP
2g.189564021A>CCA349988022SLC40A1c.965T>G (p.Leu322Arg)
c.845T>G (p.Leu282Arg)
2g.189564021A>GCA349988023SLC40A1c.965T>C (p.Leu322Pro)
c.845T>C (p.Leu282Pro)
2g.189564021A>TCA349988024SLC40A1c.965T>A (p.Leu322Gln)
c.845T>A (p.Leu282Gln)
2g.189564022G>ACA430503082SLC40A1c.964C>T (p.Leu322=)
c.844C>T (p.Leu282=)
2g.189564022G>CCA349988025SLC40A1c.964C>G (p.Leu322Val)
c.844C>G (p.Leu282Val)
2g.189564022G>TCA349988026SLC40A1c.964C>A (p.Leu322Met)
c.844C>A (p.Leu282Met)
2g.189564023G>ACA430503086SLC40A1c.963C>T (p.Val321=)
c.843C>T (p.Val281=)
2g.189564023G>CCA430503088SLC40A1c.963C>G (p.Val321=)
c.843C>G (p.Val281=)
2g.189564023G>TCA430503087SLC40A1c.963C>A (p.Val321=)
c.843C>A (p.Val281=)
2g.189564024A>CCA349988029SLC40A1c.962T>G (p.Val321Gly)
c.842T>G (p.Val281Gly)
2g.189564024A>GCA349988027SLC40A1c.962T>C (p.Val321Ala)
c.842T>C (p.Val281Ala)
2g.189564024A>TCA349988028SLC40A1c.962T>A (p.Val321Asp)
c.842T>A (p.Val281Asp)
2g.189564025C>ACA349988030SLC40A1c.961G>T (p.Val321Phe)
c.841G>T (p.Val281Phe)
2g.189564025C=CA1315654305SLC40A1c.961G= (p.Val321=)
c.841G= (p.Val281=)
2g.189564025C>GCA349988031SLC40A1c.961G>C (p.Val321Leu)
c.841G>C (p.Val281Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.189564025C>TCA349988032SLC40A1c.961G>A (p.Val321Ile)
c.841G>A (p.Val281Ile)
2g.189564027_189564030dupCA2577188084SLC40A1c.958_961dup (p.Val321AspfsTer6)
c.838_841dup (p.Val281AspfsTer6)
2g.189564026A>CCA430503091SLC40A1c.960T>G (p.Thr320=)
c.840T>G (p.Thr280=)
2g.189564026A>GCA430503092SLC40A1c.960T>C (p.Thr320=)
c.840T>C (p.Thr280=)
2g.189564026A>TCA430503093SLC40A1c.960T>A (p.Thr320=)
c.840T>A (p.Thr280=)
2g.189564027G>ACA349988033SLC40A1c.959C>T (p.Thr320Ile)
c.839C>T (p.Thr280Ile)
 dbSNP
2g.189564027G>CCA349988034SLC40A1c.959C>G (p.Thr320Ser)
c.839C>G (p.Thr280Ser)
2g.189564027G=CA1315654306SLC40A1c.959C= (p.Thr320=)
c.839C= (p.Thr280=)
2g.189564027G>TCA349988035SLC40A1c.959C>A (p.Thr320Asn)
c.839C>A (p.Thr280Asn)
2g.189564028T>ACA349988038SLC40A1c.958A>T (p.Thr320Ser)
c.838A>T (p.Thr280Ser)
2g.189564028T>CCA349988037SLC40A1c.958A>G (p.Thr320Ala)
c.838A>G (p.Thr280Ala)
2g.189564028T>GCA349988036SLC40A1c.958A>C (p.Thr320Pro)
c.838A>C (p.Thr280Pro)
2g.189564028_189564029delinsTCCA1315654310SLC40A1c.957_958delinsGA (p.Met319=)
c.837_838delinsGA (p.Met279=)
2g.189564029delCA913189702SLC40A1c.957del (p.Met319IlefsTer19)
c.837del (p.Met279IlefsTer19)
 ClinVar dbSNP
2g.189564029C>ACA349988041SLC40A1c.957G>T (p.Met319Ile)
c.837G>T (p.Met279Ile)
2g.189564029C>GCA349988039SLC40A1c.957G>C (p.Met319Ile)
c.837G>C (p.Met279Ile)
2g.189564029C>TCA349988040SLC40A1c.957G>A (p.Met319Ile)
c.837G>A (p.Met279Ile)
 ClinVar
2g.189564030A>CCA349988042SLC40A1c.956T>G (p.Met319Arg)
c.836T>G (p.Met279Arg)
2g.189564030A>GCA349988043SLC40A1c.956T>C (p.Met319Thr)
c.836T>C (p.Met279Thr)
2g.189564030A>TCA349988044SLC40A1c.956T>A (p.Met319Lys)
c.836T>A (p.Met279Lys)
2g.189564031T>ACA349988045SLC40A1c.955A>T (p.Met319Leu)
c.835A>T (p.Met279Leu)
2g.189564031T>CCA349988046SLC40A1c.955A>G (p.Met319Val)
c.835A>G (p.Met279Val)
2g.189564031T>GCA349988047SLC40A1c.955A>C (p.Met319Leu)
c.835A>C (p.Met279Leu)
2g.189564032A=CA1315654319SLC40A1c.954T= (p.Tyr318=)
c.834T= (p.Tyr278=)
2g.189564032A>CCA349988048SLC40A1c.954T>G (p.Tyr318Ter)
c.834T>G (p.Tyr278Ter)
2g.189564032A>GCA430503096SLC40A1c.954T>C (p.Tyr318=)
c.834T>C (p.Tyr278=)
 dbSNP gnomAD v3 gnomAD v4
2g.189564032A>TCA349988049SLC40A1c.954T>A (p.Tyr318Ter)
c.834T>A (p.Tyr278Ter)
2g.189564033T>ACA349988050SLC40A1c.953A>T (p.Tyr318Phe)
c.833A>T (p.Tyr278Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.189564033T>CCA349988051SLC40A1c.953A>G (p.Tyr318Cys)
c.833A>G (p.Tyr278Cys)
 gnomAD v4
2g.189564033T>GCA349988052SLC40A1c.953A>C (p.Tyr318Ser)
c.833A>C (p.Tyr278Ser)
2g.189564033T=CA1315654321SLC40A1c.953A= (p.Tyr318=)
c.833A= (p.Tyr278=)
2g.189564034A>CCA349988055SLC40A1c.952T>G (p.Tyr318Asp)
c.832T>G (p.Tyr278Asp)
2g.189564034A>GCA349988054SLC40A1c.952T>C (p.Tyr318His)
c.832T>C (p.Tyr278His)
2g.189564034A>TCA349988053SLC40A1c.952T>A (p.Tyr318Asn)
c.832T>A (p.Tyr278Asn)
2g.189564038_189564042delCA2662328693SLC40A1c.948_952del (p.Phe316LeufsTer8)
c.828_832del (p.Phe276LeufsTer8)
 gnomAD v4
2g.189564034_189564035insCCA2753593829SLC40A1c.951_952insG (p.Tyr318ValfsTer8)
c.831_832insG (p.Tyr278ValfsTer8)
2g.189564035A>CCA430502439SLC40A1c.951T>G (p.Leu317=)
c.831T>G (p.Leu277=)
2g.189564035A>GCA430502445SLC40A1c.951T>C (p.Leu317=)
c.831T>C (p.Leu277=)
 gnomAD v4
2g.189564035A>TCA430502440SLC40A1c.951T>A (p.Leu317=)
c.831T>A (p.Leu277=)
2g.189564036A>CCA349988056SLC40A1c.950T>G (p.Leu317Arg)
c.830T>G (p.Leu277Arg)
2g.189564036A>GCA349988057SLC40A1c.950T>C (p.Leu317Pro)
c.830T>C (p.Leu277Pro)
2g.189564036A>TCA349988058SLC40A1c.950T>A (p.Leu317His)
c.830T>A (p.Leu277His)
2g.189564037G>ACA349988059SLC40A1c.949C>T (p.Leu317Phe)
c.829C>T (p.Leu277Phe)
 COSMIC
2g.189564037G>CCA349988060SLC40A1c.949C>G (p.Leu317Val)
c.829C>G (p.Leu277Val)
2g.189564037G>TCA349988061SLC40A1c.949C>A (p.Leu317Ile)
c.829C>A (p.Leu277Ile)
2g.189564037_189564038delCA2753593830SLC40A1c.948_949del (p.Met319AspfsTer6)
c.828_829del (p.Met279AspfsTer6)
2g.189564038G>ACA430502449SLC40A1c.948C>T (p.Phe316=)
c.828C>T (p.Phe276=)
 gnomAD v4 COSMIC
2g.189564038G>CCA349988062SLC40A1c.948C>G (p.Phe316Leu)
c.828C>G (p.Phe276Leu)
2g.189564038G>TCA349988063SLC40A1c.948C>A (p.Phe316Leu)
c.828C>A (p.Phe276Leu)
2g.189564039A>CCA349988064SLC40A1c.947T>G (p.Phe316Cys)
c.827T>G (p.Phe276Cys)
2g.189564039A>GCA349988065SLC40A1c.947T>C (p.Phe316Ser)
c.827T>C (p.Phe276Ser)
2g.189564039A>TCA349988066SLC40A1c.947T>A (p.Phe316Tyr)
c.827T>A (p.Phe276Tyr)
2g.189564040A>CCA349988067SLC40A1c.946T>G (p.Phe316Val)
c.826T>G (p.Phe276Val)
2g.189564040A>GCA349988068SLC40A1c.946T>C (p.Phe316Leu)
c.826T>C (p.Phe276Leu)
2g.189564040A>TCA349988069SLC40A1c.946T>A (p.Phe316Ile)
c.826T>A (p.Phe276Ile)
2g.189564041A>CCA430502455SLC40A1c.945T>G (p.Ala315=)
c.825T>G (p.Ala275=)
2g.189564041A>GCA430502457SLC40A1c.945T>C (p.Ala315=)
c.825T>C (p.Ala275=)
2g.189564041A>TCA430502458SLC40A1c.945T>A (p.Ala315=)
c.825T>A (p.Ala275=)
2g.189564041_189564042insTCA2753593831SLC40A1c.944_945insA (p.Leu317ProfsTer9)
c.824_825insA (p.Leu277ProfsTer9)
2g.189564042G>ACA349988071SLC40A1c.944C>T (p.Ala315Val)
c.824C>T (p.Ala275Val)
 COSMIC
2g.189564042G>CCA62902905SLC40A1c.944C>G (p.Ala315Gly)
c.824C>G (p.Ala275Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.189564042G=CA1315654327SLC40A1c.944C= (p.Ala315=)
c.824C= (p.Ala275=)
2g.189564042G>TCA349988070SLC40A1c.944C>A (p.Ala315Asp)
c.824C>A (p.Ala275Asp)
2g.189564043C>ACA349988072SLC40A1c.943G>T (p.Ala315Ser)
c.823G>T (p.Ala275Ser)
2g.189564043C>GCA349988073SLC40A1c.943G>C (p.Ala315Pro)
c.823G>C (p.Ala275Pro)
 gnomAD v4
2g.189564043C>TCA349988074SLC40A1c.943G>A (p.Ala315Thr)
c.823G>A (p.Ala275Thr)
2g.189564044A>CCA430502467SLC40A1c.942T>G (p.Leu314=)
c.822T>G (p.Leu274=)
2g.189564044A>GCA430502466SLC40A1c.942T>C (p.Leu314=)
c.822T>C (p.Leu274=)
2g.189564044A>TCA430502465SLC40A1c.942T>A (p.Leu314=)
c.822T>A (p.Leu274=)

Number of alleles fetched