Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189563848G>ACA349987665SLC40A1c.1138C>T (p.Gln380Ter)
c.1018C>T (p.Gln340Ter)
gnomAD v4
2g.189563848G>CCA2024112SLC40A1c.1138C>G (p.Gln380Glu)
c.1018C>G (p.Gln340Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563848G=CA1315654096SLC40A1c.1138C= (p.Gln380=)
c.1018C= (p.Gln340=)
2g.189563848G>TCA349987666SLC40A1c.1138C>A (p.Gln380Lys)
c.1018C>A (p.Gln340Lys)
2g.189563849T>ACA430502888SLC40A1c.1137A>T (p.Ala379=)
c.1017A>T (p.Ala339=)
2g.189563849T>CCA430502889SLC40A1c.1137A>G (p.Ala379=)
c.1017A>G (p.Ala339=)
dbSNP
2g.189563849T>GCA430502890SLC40A1c.1137A>C (p.Ala379=)
c.1017A>C (p.Ala339=)
2g.189563849T=CA1315654099SLC40A1c.1137A= (p.Ala379=)
c.1017A= (p.Ala339=)
2g.189563850G>ACA349987667SLC40A1c.1136C>T (p.Ala379Val)
c.1016C>T (p.Ala339Val)
2g.189563850G>CCA349987669SLC40A1c.1136C>G (p.Ala379Gly)
c.1016C>G (p.Ala339Gly)
2g.189563850G>TCA349987668SLC40A1c.1136C>A (p.Ala379Glu)
c.1016C>A (p.Ala339Glu)
2g.189563851C>ACA349987670SLC40A1c.1135G>T (p.Ala379Ser)
c.1015G>T (p.Ala339Ser)
2g.189563851C>GCA349987671SLC40A1c.1135G>C (p.Ala379Pro)
c.1015G>C (p.Ala339Pro)
2g.189563851C>TCA349987672SLC40A1c.1135G>A (p.Ala379Thr)
c.1015G>A (p.Ala339Thr)
2g.189563852C>ACA349987673SLC40A1c.1134G>T (p.Leu378Phe)
c.1014G>T (p.Leu338Phe)
2g.189563852C>GCA349987674SLC40A1c.1134G>C (p.Leu378Phe)
c.1014G>C (p.Leu338Phe)
2g.189563852C>TCA430502891SLC40A1c.1134G>A (p.Leu378=)
c.1014G>A (p.Leu338=)
2g.189563853A>CCA349987675SLC40A1c.1133T>G (p.Leu378Trp)
c.1013T>G (p.Leu338Trp)
2g.189563853A>GCA349987676SLC40A1c.1133T>C (p.Leu378Ser)
c.1013T>C (p.Leu338Ser)
2g.189563853A>TCA349987677SLC40A1c.1133T>A (p.Leu378Ter)
c.1013T>A (p.Leu338Ter)
2g.189563854A=CA1315654103SLC40A1c.1132T= (p.Leu378=)
c.1012T= (p.Leu338=)
2g.189563854A>CCA349987678SLC40A1c.1132T>G (p.Leu378Val)
c.1012T>G (p.Leu338Val)
2g.189563854A>GCA2024113SLC40A1c.1132T>C (p.Leu378=)
c.1012T>C (p.Leu338=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563854A>TCA349987679SLC40A1c.1132T>A (p.Leu378Met)
c.1012T>A (p.Leu338Met)
2g.189563854_189563855insGATGGATGGGTCCA2753593825SLC40A1c.1131_1132insGACCCATCCATC (p.Gly377_Leu378insAspProSerIle)
c.1011_1012insGACCCATCCATC (p.Gly337_Leu338insAspProSerIle)
2g.189563855T>ACA430502892SLC40A1c.1131A>T (p.Gly377=)
c.1011A>T (p.Gly337=)
2g.189563855T>CCA430502893SLC40A1c.1131A>G (p.Gly377=)
c.1011A>G (p.Gly337=)
2g.189563855T>GCA430502894SLC40A1c.1131A>C (p.Gly377=)
c.1011A>C (p.Gly337=)
ClinVar dbSNP gnomAD v4
2g.189563855T=CA1315654108SLC40A1c.1131A= (p.Gly377=)
c.1011A= (p.Gly337=)
2g.189563856C>ACA349987682SLC40A1c.1130G>T (p.Gly377Val)
c.1010G>T (p.Gly337Val)
2g.189563856C>GCA349987681SLC40A1c.1130G>C (p.Gly377Ala)
c.1010G>C (p.Gly337Ala)
2g.189563856C>TCA349987680SLC40A1c.1130G>A (p.Gly377Glu)
c.1010G>A (p.Gly337Glu)
2g.189563857C>ACA349987683SLC40A1c.1129G>T (p.Gly377Ter)
c.1009G>T (p.Gly337Ter)
2g.189563857C>GCA349987685SLC40A1c.1129G>C (p.Gly377Arg)
c.1009G>C (p.Gly337Arg)
2g.189563857C>TCA349987684SLC40A1c.1129G>A (p.Gly377Arg)
c.1009G>A (p.Gly337Arg)
COSMIC
2g.189563858T>ACA430502897SLC40A1c.1128A>T (p.Ser376=)
c.1008A>T (p.Ser336=)
dbSNP gnomAD v2
2g.189563858T>CCA430502896SLC40A1c.1128A>G (p.Ser376=)
c.1008A>G (p.Ser336=)
2g.189563858T>GCA430502895SLC40A1c.1128A>C (p.Ser376=)
c.1008A>C (p.Ser336=)
2g.189563858T=CA1315654110SLC40A1c.1128A= (p.Ser376=)
c.1008A= (p.Ser336=)
2g.189563859G>ACA349987686SLC40A1c.1127C>T (p.Ser376Leu)
c.1007C>T (p.Ser336Leu)
2g.189563859G>CCA349987687SLC40A1c.1127C>G (p.Ser376Ter)
c.1007C>G (p.Ser336Ter)
2g.189563859G>TCA349987688SLC40A1c.1127C>A (p.Ser376Ter)
c.1007C>A (p.Ser336Ter)
2g.189563860A>CCA349987689SLC40A1c.1126T>G (p.Ser376Ala)
c.1006T>G (p.Ser336Ala)
2g.189563860A>GCA349987690SLC40A1c.1126T>C (p.Ser376Pro)
c.1006T>C (p.Ser336Pro)
2g.189563860A>TCA349987691SLC40A1c.1126T>A (p.Ser376Thr)
c.1006T>A (p.Ser336Thr)
2g.189563861G>ACA430502898SLC40A1c.1125C>T (p.Ile375=)
c.1005C>T (p.Ile335=)
dbSNP
2g.189563861G>CCA349987692SLC40A1c.1125C>G (p.Ile375Met)
c.1005C>G (p.Ile335Met)
gnomAD v4
2g.189563861G=CA1315654112SLC40A1c.1125C= (p.Ile375=)
c.1005C= (p.Ile335=)
2g.189563861G>TCA430502899SLC40A1c.1125C>A (p.Ile375=)
c.1005C>A (p.Ile335=)
gnomAD v4
2g.189563862A>CCA349987693SLC40A1c.1124T>G (p.Ile375Ser)
c.1004T>G (p.Ile335Ser)
2g.189563862A>GCA349987694SLC40A1c.1124T>C (p.Ile375Thr)
c.1004T>C (p.Ile335Thr)
2g.189563862A>TCA349987695SLC40A1c.1124T>A (p.Ile375Asn)
c.1004T>A (p.Ile335Asn)
2g.189563863T>ACA2024115SLC40A1c.1123A>T (p.Ile375Phe)
c.1003A>T (p.Ile335Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563863T>CCA2024114SLC40A1c.1123A>G (p.Ile375Val)
c.1003A>G (p.Ile335Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563863T>GCA349987696SLC40A1c.1123A>C (p.Ile375Leu)
c.1003A>C (p.Ile335Leu)
2g.189563863T=CA1315654114SLC40A1c.1123A= (p.Ile375=)
c.1003A= (p.Ile335=)
2g.189563864C>ACA430502900SLC40A1c.1122G>T (p.Leu374=)
c.1002G>T (p.Leu334=)
2g.189563864C>GCA430502902SLC40A1c.1122G>C (p.Leu374=)
c.1002G>C (p.Leu334=)
2g.189563864C>TCA430502901SLC40A1c.1122G>A (p.Leu374=)
c.1002G>A (p.Leu334=)
2g.189563865A>CCA349987697SLC40A1c.1121T>G (p.Leu374Arg)
c.1001T>G (p.Leu334Arg)
COSMIC
2g.189563865A>GCA349987698SLC40A1c.1121T>C (p.Leu374Pro)
c.1001T>C (p.Leu334Pro)
2g.189563865A>TCA349987699SLC40A1c.1121T>A (p.Leu374Gln)
c.1001T>A (p.Leu334Gln)
2g.189563866G>ACA430502903SLC40A1c.1120C>T (p.Leu374=)
c.1000C>T (p.Leu334=)
2g.189563866G>CCA2024116SLC40A1c.1120C>G (p.Leu374Val)
c.1000C>G (p.Leu334Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563866G=CA1315654118SLC40A1c.1120C= (p.Leu374=)
c.1000C= (p.Leu334=)
2g.189563866G>TCA349987700SLC40A1c.1120C>A (p.Leu374Met)
c.1000C>A (p.Leu334Met)
2g.189563867A=CA1315654121SLC40A1c.1119T= (p.Gly373=)
c.999T= (p.Gly333=)
2g.189563867A>CCA430502904SLC40A1c.1119T>G (p.Gly373=)
c.999T>G (p.Gly333=)
gnomAD v4
2g.189563867A>GCA430502905SLC40A1c.1119T>C (p.Gly373=)
c.999T>C (p.Gly333=)
2g.189563867A>TCA2024117SLC40A1c.1119T>A (p.Gly373=)
c.999T>A (p.Gly333=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563868C>ACA349987701SLC40A1c.1118G>T (p.Gly373Val)
c.998G>T (p.Gly333Val)
2g.189563868C>GCA349987702SLC40A1c.1118G>C (p.Gly373Ala)
c.998G>C (p.Gly333Ala)
2g.189563868C>TCA349987703SLC40A1c.1118G>A (p.Gly373Asp)
c.998G>A (p.Gly333Asp)
2g.189563869C>ACA349987704SLC40A1c.1117G>T (p.Gly373Cys)
c.997G>T (p.Gly333Cys)
gnomAD v4
2g.189563869C=CA1315654124SLC40A1c.1117G= (p.Gly373=)
c.997G= (p.Gly333=)
2g.189563869C>GCA349987705SLC40A1c.1117G>C (p.Gly373Arg)
c.997G>C (p.Gly333Arg)
2g.189563869C>TCA349987706SLC40A1c.1117G>A (p.Gly373Ser)
c.997G>A (p.Gly333Ser)
dbSNP gnomAD v2 gnomAD v4
2g.189563870T>ACA430502906SLC40A1c.1116A>T (p.Thr372=)
c.996A>T (p.Thr332=)
2g.189563870T>CCA430502908SLC40A1c.1116A>G (p.Thr372=)
c.996A>G (p.Thr332=)
2g.189563870T>GCA430502907SLC40A1c.1116A>C (p.Thr372=)
c.996A>C (p.Thr332=)
gnomAD v4
2g.189563871G>ACA349987708SLC40A1c.1115C>T (p.Thr372Ile)
c.995C>T (p.Thr332Ile)
dbSNP gnomAD v3 gnomAD v4
2g.189563871G>CCA349987709SLC40A1c.1115C>G (p.Thr372Arg)
c.995C>G (p.Thr332Arg)
2g.189563871G=CA1315654126SLC40A1c.1115C= (p.Thr372=)
c.995C= (p.Thr332=)
2g.189563871G>TCA349987707SLC40A1c.1115C>A (p.Thr372Lys)
c.995C>A (p.Thr332Lys)
2g.189563872T>ACA349987710SLC40A1c.1114A>T (p.Thr372Ser)
c.994A>T (p.Thr332Ser)
2g.189563872T>CCA2024118SLC40A1c.1114A>G (p.Thr372Ala)
c.994A>G (p.Thr332Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563872T>GCA349987711SLC40A1c.1114A>C (p.Thr372Pro)
c.994A>C (p.Thr332Pro)
2g.189563872T=CA1315654130SLC40A1c.1114A= (p.Thr372=)
c.994A= (p.Thr332=)
2g.189563873C>ACA430502909SLC40A1c.1113G>T (p.Arg371=)
c.993G>T (p.Arg331=)
2g.189563873C>GCA430502910SLC40A1c.1113G>C (p.Arg371=)
c.993G>C (p.Arg331=)
2g.189563873C>TCA430502911SLC40A1c.1113G>A (p.Arg371=)
c.993G>A (p.Arg331=)
2g.189563874delCA2662328593SLC40A1c.1113del (p.Thr372GlnfsTer3)
c.993del (p.Thr332GlnfsTer3)
gnomAD v4
2g.189563874C>ACA349987712SLC40A1c.1112G>T (p.Arg371Leu)
c.992G>T (p.Arg331Leu)
2g.189563874C=CA1315654137SLC40A1c.1112G= (p.Arg371=)
c.992G= (p.Arg331=)
2g.189563874C>GCA349987713SLC40A1c.1112G>C (p.Arg371Pro)
c.992G>C (p.Arg331Pro)
2g.189563874C>TCA215954SLC40A1c.1112G>A (p.Arg371Gln)
c.992G>A (p.Arg331Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563875G>ACA2024120SLC40A1c.1111C>T (p.Arg371Trp)
c.991C>T (p.Arg331Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563875G>CCA2024119SLC40A1c.1111C>G (p.Arg371Gly)
c.991C>G (p.Arg331Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563875G=CA1315654141SLC40A1c.1111C= (p.Arg371=)
c.991C= (p.Arg331=)
2g.189563875G>TCA62902894SLC40A1c.1111C>A (p.Arg371=)
c.991C>A (p.Arg331=)
dbSNP
2g.189563876A>CCA430502912SLC40A1c.1110T>G (p.Val370=)
c.990T>G (p.Val330=)
2g.189563876A>GCA430502913SLC40A1c.1110T>C (p.Val370=)
c.990T>C (p.Val330=)
2g.189563876A>TCA430502914SLC40A1c.1110T>A (p.Val370=)
c.990T>A (p.Val330=)
2g.189563877A=CA1315654146SLC40A1c.1109T= (p.Val370=)
c.989T= (p.Val330=)
2g.189563877A>CCA62902895SLC40A1c.1109T>G (p.Val370Gly)
c.989T>G (p.Val330Gly)
dbSNP
2g.189563877A>GCA349987714SLC40A1c.1109T>C (p.Val370Ala)
c.989T>C (p.Val330Ala)
gnomAD v4
2g.189563877A>TCA349987715SLC40A1c.1109T>A (p.Val370Asp)
c.989T>A (p.Val330Asp)
2g.189563878C>ACA349987716SLC40A1c.1108G>T (p.Val370Phe)
c.988G>T (p.Val330Phe)
gnomAD v4
2g.189563878C>GCA349987717SLC40A1c.1108G>C (p.Val370Leu)
c.988G>C (p.Val330Leu)
2g.189563878C>TCA349987718SLC40A1c.1108G>A (p.Val370Ile)
c.988G>A (p.Val330Ile)
2g.189563879C>ACA349987719SLC40A1c.1107G>T (p.Leu369Phe)
c.987G>T (p.Leu329Phe)
2g.189563879C>GCA349987720SLC40A1c.1107G>C (p.Leu369Phe)
c.987G>C (p.Leu329Phe)
2g.189563879C>TCA430502915SLC40A1c.1107G>A (p.Leu369=)
c.987G>A (p.Leu329=)
gnomAD v4
2g.189563880A>CCA349987721SLC40A1c.1106T>G (p.Leu369Trp)
c.986T>G (p.Leu329Trp)
2g.189563880A>GCA349987722SLC40A1c.1106T>C (p.Leu369Ser)
c.986T>C (p.Leu329Ser)
2g.189563880A>TCA349987723SLC40A1c.1106T>A (p.Leu369Ter)
c.986T>A (p.Leu329Ter)
2g.189563881A>CCA349987724SLC40A1c.1105T>G (p.Leu369Val)
c.985T>G (p.Leu329Val)
2g.189563881A>GCA430502916SLC40A1c.1105T>C (p.Leu369=)
c.985T>C (p.Leu329=)
2g.189563881A>TCA349987725SLC40A1c.1105T>A (p.Leu369Met)
c.985T>A (p.Leu329Met)
2g.189563882A>CCA430502917SLC40A1c.1104T>G (p.Gly368=)
c.984T>G (p.Gly328=)
2g.189563882A>GCA430502918SLC40A1c.1104T>C (p.Gly368=)
c.984T>C (p.Gly328=)
2g.189563882A>TCA430502919SLC40A1c.1104T>A (p.Gly368=)
c.984T>A (p.Gly328=)
2g.189563883C>ACA349987726SLC40A1c.1103G>T (p.Gly368Val)
c.983G>T (p.Gly328Val)
2g.189563883C>GCA349987727SLC40A1c.1103G>C (p.Gly368Ala)
c.983G>C (p.Gly328Ala)
2g.189563883C>TCA349987728SLC40A1c.1103G>A (p.Gly368Asp)
c.983G>A (p.Gly328Asp)
2g.189563883_189563884insACACCCAACA2753593826SLC40A1c.1102_1103insTTGGGTGT (p.Gly368ValfsTer10)
c.982_983insTTGGGTGT (p.Gly328ValfsTer10)
2g.189563884C>ACA349987729SLC40A1c.1102G>T (p.Gly368Cys)
c.982G>T (p.Gly328Cys)
2g.189563884C>GCA349987730SLC40A1c.1102G>C (p.Gly368Arg)
c.982G>C (p.Gly328Arg)
2g.189563884C>TCA349987731SLC40A1c.1102G>A (p.Gly368Ser)
c.982G>A (p.Gly328Ser)
2g.189563885A>CCA349987732SLC40A1c.1101T>G (p.Cys367Trp)
c.981T>G (p.Cys327Trp)
2g.189563885A>GCA430502920SLC40A1c.1101T>C (p.Cys367=)
c.981T>C (p.Cys327=)
gnomAD v4
2g.189563885A>TCA349987733SLC40A1c.1101T>A (p.Cys367Ter)
c.981T>A (p.Cys327Ter)
2g.189563886C>ACA349987734SLC40A1c.1100G>T (p.Cys367Phe)
c.980G>T (p.Cys327Phe)
dbSNP
2g.189563886C=CA1315654148SLC40A1c.1100G= (p.Cys367=)
c.980G= (p.Cys327=)
2g.189563886C>GCA349987736SLC40A1c.1100G>C (p.Cys367Ser)
c.980G>C (p.Cys327Ser)
2g.189563886C>TCA349987735SLC40A1c.1100G>A (p.Cys367Tyr)
c.980G>A (p.Cys327Tyr)
2g.189563887A=CA1315654150SLC40A1c.1099T= (p.Cys367=)
c.979T= (p.Cys327=)
2g.189563887A>CCA349987737SLC40A1c.1099T>G (p.Cys367Gly)
c.979T>G (p.Cys327Gly)
2g.189563887A>GCA2024121SLC40A1c.1099T>C (p.Cys367Arg)
c.979T>C (p.Cys327Arg)
dbSNP ExAC gnomAD v2
2g.189563887A>TCA349987738SLC40A1c.1099T>A (p.Cys367Ser)
c.979T>A (p.Cys327Ser)
2g.189563888T>ACA349987739SLC40A1c.1098A>T (p.Lys366Asn)
c.978A>T (p.Lys326Asn)
2g.189563888T>CCA430502921SLC40A1c.1098A>G (p.Lys366=)
c.978A>G (p.Lys326=)
gnomAD v4
2g.189563888T>GCA349987740SLC40A1c.1098A>C (p.Lys366Asn)
c.978A>C (p.Lys326Asn)
2g.189563891delCA2753593827SLC40A1c.1098del (p.Lys366AsnfsTer9)
c.978del (p.Lys326AsnfsTer9)
2g.189563889T>ACA349987741SLC40A1c.1097A>T (p.Lys366Ile)
c.977A>T (p.Lys326Ile)
2g.189563889T>CCA349987742SLC40A1c.1097A>G (p.Lys366Arg)
c.977A>G (p.Lys326Arg)
gnomAD v4
2g.189563889T>GCA349987743SLC40A1c.1097A>C (p.Lys366Thr)
c.977A>C (p.Lys326Thr)
2g.189563890T>ACA349987744SLC40A1c.1096A>T (p.Lys366Ter)
c.976A>T (p.Lys326Ter)
2g.189563890T>CCA349987745SLC40A1c.1096A>G (p.Lys366Glu)
c.976A>G (p.Lys326Glu)
2g.189563890T>GCA349987746SLC40A1c.1096A>C (p.Lys366Gln)
c.976A>C (p.Lys326Gln)
2g.189563891T>ACA430502922SLC40A1c.1095A>T (p.Arg365=)
c.975A>T (p.Arg325=)
2g.189563891T>CCA430502923SLC40A1c.1095A>G (p.Arg365=)
c.975A>G (p.Arg325=)
2g.189563891T>GCA430502924SLC40A1c.1095A>C (p.Arg365=)
c.975A>C (p.Arg325=)
2g.189563892C>ACA349987748SLC40A1c.1094G>T (p.Arg365Leu)
c.974G>T (p.Arg325Leu)
2g.189563892C=CA1315654152SLC40A1c.1094G= (p.Arg365=)
c.974G= (p.Arg325=)
2g.189563892C>GCA349987747SLC40A1c.1094G>C (p.Arg365Pro)
c.974G>C (p.Arg325Pro)
2g.189563892C>TCA2024122SLC40A1c.1094G>A (p.Arg365Gln)
c.974G>A (p.Arg325Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563893G>ACA349987749SLC40A1c.1093C>T (p.Arg365Ter)
c.973C>T (p.Arg325Ter)
gnomAD v4
2g.189563893G>CCA349987750SLC40A1c.1093C>G (p.Arg365Gly)
c.973C>G (p.Arg325Gly)
2g.189563893G>TCA430502925SLC40A1c.1093C>A (p.Arg365=)
c.973C>A (p.Arg325=)
2g.189563894A>CCA430502926SLC40A1c.1092T>G (p.Arg364=)
c.972T>G (p.Arg324=)
2g.189563894A>GCA430502927SLC40A1c.1092T>C (p.Arg364=)
c.972T>C (p.Arg324=)
2g.189563894A>TCA430502928SLC40A1c.1092T>A (p.Arg364=)
c.972T>A (p.Arg324=)
2g.189563895C>ACA349987751SLC40A1c.1091G>T (p.Arg364Leu)
c.971G>T (p.Arg324Leu)
2g.189563895C>GCA349987752SLC40A1c.1091G>C (p.Arg364Pro)
c.971G>C (p.Arg324Pro)
2g.189563895C>TCA349987753SLC40A1c.1091G>A (p.Arg364His)
c.971G>A (p.Arg324His)
gnomAD v4
2g.189563896G>ACA2024123SLC40A1c.1090C>T (p.Arg364Cys)
c.970C>T (p.Arg324Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563896G>CCA349987755SLC40A1c.1090C>G (p.Arg364Gly)
c.970C>G (p.Arg324Gly)
2g.189563896G=CA1315654153SLC40A1c.1090C= (p.Arg364=)
c.970C= (p.Arg324=)
2g.189563896G>TCA349987754SLC40A1c.1090C>A (p.Arg364Ser)
c.970C>A (p.Arg324Ser)
2g.189563897T>ACA430502929SLC40A1c.1089A>T (p.Leu363=)
c.969A>T (p.Leu323=)
2g.189563897T>CCA430502930SLC40A1c.1089A>G (p.Leu363=)
c.969A>G (p.Leu323=)
gnomAD v4
2g.189563897T>GCA430502931SLC40A1c.1089A>C (p.Leu363=)
c.969A>C (p.Leu323=)
2g.189563898A>CCA349987756SLC40A1c.1088T>G (p.Leu363Arg)
c.968T>G (p.Leu323Arg)
2g.189563898A>GCA349987757SLC40A1c.1088T>C (p.Leu363Pro)
c.968T>C (p.Leu323Pro)
gnomAD v4
2g.189563898A>TCA349987758SLC40A1c.1088T>A (p.Leu363Gln)
c.968T>A (p.Leu323Gln)
2g.189563899G>ACA430502932SLC40A1c.1087C>T (p.Leu363=)
c.967C>T (p.Leu323=)
2g.189563899G>CCA349987759SLC40A1c.1087C>G (p.Leu363Val)
c.967C>G (p.Leu323Val)
2g.189563899G>TCA349987760SLC40A1c.1087C>A (p.Leu363Ile)
c.967C>A (p.Leu323Ile)
2g.189563900C>ACA349987761SLC40A1c.1086G>T (p.Trp362Cys)
c.966G>T (p.Trp322Cys)
2g.189563900C=CA1315654156SLC40A1c.1086G= (p.Trp362=)
c.966G= (p.Trp322=)
2g.189563900C>GCA349987762SLC40A1c.1086G>C (p.Trp362Cys)
c.966G>C (p.Trp322Cys)
dbSNP gnomAD v4
2g.189563900C>TCA349987763SLC40A1c.1086G>A (p.Trp362Ter)
c.966G>A (p.Trp322Ter)
2g.189563901C>ACA349987764SLC40A1c.1085G>T (p.Trp362Leu)
c.965G>T (p.Trp322Leu)
2g.189563901C=CA1315654158SLC40A1c.1085G= (p.Trp362=)
c.965G= (p.Trp322=)
2g.189563901C>GCA2024124SLC40A1c.1085G>C (p.Trp362Ser)
c.965G>C (p.Trp322Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563901C>TCA349987765SLC40A1c.1085G>A (p.Trp362Ter)
c.965G>A (p.Trp322Ter)
2g.189563902A>CCA349987766SLC40A1c.1084T>G (p.Trp362Gly)
c.964T>G (p.Trp322Gly)
2g.189563902A>GCA349987768SLC40A1c.1084T>C (p.Trp362Arg)
c.964T>C (p.Trp322Arg)
gnomAD v4
2g.189563902A>TCA349987767SLC40A1c.1084T>A (p.Trp362Arg)
c.964T>A (p.Trp322Arg)
2g.189563903A>CCA430502933SLC40A1c.1083T>G (p.Thr361=)
c.963T>G (p.Thr321=)
2g.189563903A>GCA430502934SLC40A1c.1083T>C (p.Thr361=)
c.963T>C (p.Thr321=)
2g.189563903A>TCA430502935SLC40A1c.1083T>A (p.Thr361=)
c.963T>A (p.Thr321=)
2g.189563904G>ACA349987769SLC40A1c.1082C>T (p.Thr361Ile)
c.962C>T (p.Thr321Ile)
dbSNP gnomAD v3 gnomAD v4
2g.189563904G>CCA349987770SLC40A1c.1082C>G (p.Thr361Ser)
c.962C>G (p.Thr321Ser)
2g.189563904G=CA1315654159SLC40A1c.1082C= (p.Thr361=)
c.962C= (p.Thr321=)
2g.189563904G>TCA349987771SLC40A1c.1082C>A (p.Thr361Asn)
c.962C>A (p.Thr321Asn)
2g.189563905T>ACA349987772SLC40A1c.1081A>T (p.Thr361Ser)
c.961A>T (p.Thr321Ser)
2g.189563905T>CCA349987773SLC40A1c.1081A>G (p.Thr361Ala)
c.961A>G (p.Thr321Ala)
dbSNP
2g.189563905T>GCA349987774SLC40A1c.1081A>C (p.Thr361Pro)
c.961A>C (p.Thr321Pro)
2g.189563905T=CA1315654163SLC40A1c.1081A= (p.Thr361=)
c.961A= (p.Thr321=)
2g.189563906A>CCA349987775SLC40A1c.1080T>G (p.Phe360Leu)
c.960T>G (p.Phe320Leu)
2g.189563906A>GCA430502936SLC40A1c.1080T>C (p.Phe360=)
c.960T>C (p.Phe320=)
2g.189563906A>TCA349987776SLC40A1c.1080T>A (p.Phe360Leu)
c.960T>A (p.Phe320Leu)
2g.189563907A>CCA349987777SLC40A1c.1079T>G (p.Phe360Cys)
c.959T>G (p.Phe320Cys)
2g.189563907A>GCA349987778SLC40A1c.1079T>C (p.Phe360Ser)
c.959T>C (p.Phe320Ser)
2g.189563907A>TCA349987779SLC40A1c.1079T>A (p.Phe360Tyr)
c.959T>A (p.Phe320Tyr)
2g.189563908A>CCA349987782SLC40A1c.1078T>G (p.Phe360Val)
c.958T>G (p.Phe320Val)
2g.189563908A>GCA349987781SLC40A1c.1078T>C (p.Phe360Leu)
c.958T>C (p.Phe320Leu)
2g.189563908A>TCA349987780SLC40A1c.1078T>A (p.Phe360Ile)
c.958T>A (p.Phe320Ile)
2g.189563909A>CCA430502937SLC40A1c.1077T>G (p.Ala359=)
c.957T>G (p.Ala319=)
2g.189563909A>GCA430502938SLC40A1c.1077T>C (p.Ala359=)
c.957T>C (p.Ala319=)
2g.189563909A>TCA430502939SLC40A1c.1077T>A (p.Ala359=)
c.957T>A (p.Ala319=)
2g.189563910G>ACA349987783SLC40A1c.1076C>T (p.Ala359Val)
c.956C>T (p.Ala319Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563910G>CCA349987784SLC40A1c.1076C>G (p.Ala359Gly)
c.956C>G (p.Ala319Gly)
2g.189563910G=CA1315654166SLC40A1c.1076C= (p.Ala359=)
c.956C= (p.Ala319=)
2g.189563910G>TCA349987785SLC40A1c.1076C>A (p.Ala359Asp)
c.956C>A (p.Ala319Asp)
2g.189563911C>ACA349987786SLC40A1c.1075G>T (p.Ala359Ser)
c.955G>T (p.Ala319Ser)
2g.189563911C>GCA349987787SLC40A1c.1075G>C (p.Ala359Pro)
c.955G>C (p.Ala319Pro)
2g.189563911C>TCA349987788SLC40A1c.1075G>A (p.Ala359Thr)
c.955G>A (p.Ala319Thr)
2g.189563912T>ACA430502940SLC40A1c.1074A>T (p.Val358=)
c.954A>T (p.Val318=)
2g.189563912T>CCA430502941SLC40A1c.1074A>G (p.Val358=)
c.954A>G (p.Val318=)
dbSNP gnomAD v3 gnomAD v4
2g.189563912T>GCA430502942SLC40A1c.1074A>C (p.Val358=)
c.954A>C (p.Val318=)
dbSNP gnomAD v3 gnomAD v4
2g.189563912T=CA1315654169SLC40A1c.1074A= (p.Val358=)
c.954A= (p.Val318=)
2g.189563913A>CCA349987789SLC40A1c.1073T>G (p.Val358Gly)
c.953T>G (p.Val318Gly)
2g.189563913A>GCA349987790SLC40A1c.1073T>C (p.Val358Ala)
c.953T>C (p.Val318Ala)
2g.189563913A>TCA349987791SLC40A1c.1073T>A (p.Val358Glu)
c.953T>A (p.Val318Glu)
2g.189563914C>ACA349987792SLC40A1c.1072G>T (p.Val358Leu)
c.952G>T (p.Val318Leu)
2g.189563914C>GCA349987793SLC40A1c.1072G>C (p.Val358Leu)
c.952G>C (p.Val318Leu)
2g.189563914C>TCA349987794SLC40A1c.1072G>A (p.Val358Ile)
c.952G>A (p.Val318Ile)
2g.189563915A=CA1315654173SLC40A1c.1071T= (p.Thr357=)
c.951T= (p.Thr317=)
2g.189563915A>CCA62902896SLC40A1c.1071T>G (p.Thr357=)
c.951T>G (p.Thr317=)
dbSNP gnomAD v3 gnomAD v4
2g.189563915A>GCA430502943SLC40A1c.1071T>C (p.Thr357=)
c.951T>C (p.Thr317=)
gnomAD v3 gnomAD v4
2g.189563915A>TCA430502944SLC40A1c.1071T>A (p.Thr357=)
c.951T>A (p.Thr317=)
dbSNP
2g.189563916G>ACA349987796SLC40A1c.1070C>T (p.Thr357Ile)
c.950C>T (p.Thr317Ile)
2g.189563916G>CCA349987797SLC40A1c.1070C>G (p.Thr357Ser)
c.950C>G (p.Thr317Ser)
2g.189563916G>TCA349987795SLC40A1c.1070C>A (p.Thr357Asn)
c.950C>A (p.Thr317Asn)
2g.189563917T>ACA349987798SLC40A1c.1069A>T (p.Thr357Ser)
c.949A>T (p.Thr317Ser)
2g.189563917T>CCA349987799SLC40A1c.1069A>G (p.Thr357Ala)
c.949A>G (p.Thr317Ala)
2g.189563917T>GCA349987800SLC40A1c.1069A>C (p.Thr357Pro)
c.949A>C (p.Thr317Pro)
2g.189563918T>ACA430502948SLC40A1c.1068A>T (p.Gly356=)
c.948A>T (p.Gly316=)
2g.189563918T>CCA62902897SLC40A1c.1068A>G (p.Gly356=)
c.948A>G (p.Gly316=)
dbSNP
2g.189563918T>GCA430502949SLC40A1c.1068A>C (p.Gly356=)
c.948A>C (p.Gly316=)
2g.189563918T=CA1315654176SLC40A1c.1068A= (p.Gly356=)
c.948A= (p.Gly316=)
2g.189563919C>ACA349987803SLC40A1c.1067G>T (p.Gly356Val)
c.947G>T (p.Gly316Val)
2g.189563919C>GCA349987802SLC40A1c.1067G>C (p.Gly356Ala)
c.947G>C (p.Gly316Ala)
2g.189563919C>TCA349987801SLC40A1c.1067G>A (p.Gly356Glu)
c.947G>A (p.Gly316Glu)
2g.189563920C>ACA349987804SLC40A1c.1066G>T (p.Gly356Ter)
c.946G>T (p.Gly316Ter)
2g.189563920C>GCA349987805SLC40A1c.1066G>C (p.Gly356Arg)
c.946G>C (p.Gly316Arg)
2g.189563920C>TCA349987806SLC40A1c.1066G>A (p.Gly356Arg)
c.946G>A (p.Gly316Arg)
COSMIC
2g.189563921C>ACA349987807SLC40A1c.1065G>T (p.Met355Ile)
c.945G>T (p.Met315Ile)
2g.189563921C>GCA349987808SLC40A1c.1065G>C (p.Met355Ile)
c.945G>C (p.Met315Ile)
2g.189563921C>TCA349987809SLC40A1c.1065G>A (p.Met355Ile)
c.945G>A (p.Met315Ile)
2g.189563922A>CCA349987812SLC40A1c.1064T>G (p.Met355Arg)
c.944T>G (p.Met315Arg)
2g.189563922A>GCA349987810SLC40A1c.1064T>C (p.Met355Thr)
c.944T>C (p.Met315Thr)
2g.189563922A>TCA349987811SLC40A1c.1064T>A (p.Met355Lys)
c.944T>A (p.Met315Lys)
2g.189563923T>ACA349987813SLC40A1c.1063A>T (p.Met355Leu)
c.943A>T (p.Met315Leu)
2g.189563923T>CCA349987814SLC40A1c.1063A>G (p.Met355Val)
c.943A>G (p.Met315Val)
dbSNP gnomAD v4
2g.189563923T>GCA349987815SLC40A1c.1063A>C (p.Met355Leu)
c.943A>C (p.Met315Leu)
2g.189563923T=CA1315654180SLC40A1c.1063A= (p.Met355=)
c.943A= (p.Met315=)
2g.189563924T>ACA430502953SLC40A1c.1062A>T (p.Ile354=)
c.942A>T (p.Ile314=)
2g.189563924T>CCA349987816SLC40A1c.1062A>G (p.Ile354Met)
c.942A>G (p.Ile314Met)
2g.189563924T>GCA430502954SLC40A1c.1062A>C (p.Ile354=)
c.942A>C (p.Ile314=)
2g.189563925A>CCA349987817SLC40A1c.1061T>G (p.Ile354Arg)
c.941T>G (p.Ile314Arg)
2g.189563925A>GCA349987818SLC40A1c.1061T>C (p.Ile354Thr)
c.941T>C (p.Ile314Thr)
2g.189563925A>TCA349987819SLC40A1c.1061T>A (p.Ile354Lys)
c.941T>A (p.Ile314Lys)
2g.189563926T>ACA349987820SLC40A1c.1060A>T (p.Ile354Leu)
c.940A>T (p.Ile314Leu)
2g.189563926T>CCA349987821SLC40A1c.1060A>G (p.Ile354Val)
c.940A>G (p.Ile314Val)
dbSNP gnomAD v4
2g.189563926T>GCA349987822SLC40A1c.1060A>C (p.Ile354Leu)
c.940A>C (p.Ile314Leu)
2g.189563926T=CA1315654182SLC40A1c.1060A= (p.Ile354=)
c.940A= (p.Ile314=)
2g.189563927T>ACA430502958SLC40A1c.1059A>T (p.Gly353=)
c.939A>T (p.Gly313=)
2g.189563927T>CCA430502959SLC40A1c.1059A>G (p.Gly353=)
c.939A>G (p.Gly313=)
2g.189563927T>GCA430502960SLC40A1c.1059A>C (p.Gly353=)
c.939A>C (p.Gly313=)
2g.189563928C>ACA349987823SLC40A1c.1058G>T (p.Gly353Val)
c.938G>T (p.Gly313Val)
2g.189563928C=CA1315654184SLC40A1c.1058G= (p.Gly353=)
c.938G= (p.Gly313=)
2g.189563928C>GCA349987824SLC40A1c.1058G>C (p.Gly353Ala)
c.938G>C (p.Gly313Ala)
2g.189563928C>TCA62902898SLC40A1c.1058G>A (p.Gly353Glu)
c.938G>A (p.Gly313Glu)
dbSNP
2g.189563929C>ACA349987825SLC40A1c.1057G>T (p.Gly353Ter)
c.937G>T (p.Gly313Ter)
2g.189563929C>GCA349987827SLC40A1c.1057G>C (p.Gly353Arg)
c.937G>C (p.Gly313Arg)
2g.189563929C>TCA349987826SLC40A1c.1057G>A (p.Gly353Arg)
c.937G>A (p.Gly313Arg)
2g.189563930A>CCA430502964SLC40A1c.1056T>G (p.Thr352=)
c.936T>G (p.Thr312=)
2g.189563930A>GCA430502965SLC40A1c.1056T>C (p.Thr352=)
c.936T>C (p.Thr312=)
gnomAD v4
2g.189563930A>TCA430502966SLC40A1c.1056T>A (p.Thr352=)
c.936T>A (p.Thr312=)
2g.189563931G>ACA349987828SLC40A1c.1055C>T (p.Thr352Ile)
c.935C>T (p.Thr312Ile)
2g.189563931G>CCA349987829SLC40A1c.1055C>G (p.Thr352Ser)
c.935C>G (p.Thr312Ser)
2g.189563931G>TCA349987830SLC40A1c.1055C>A (p.Thr352Asn)
c.935C>A (p.Thr312Asn)
2g.189563932T>ACA349987831SLC40A1c.1054A>T (p.Thr352Ser)
c.934A>T (p.Thr312Ser)
2g.189563932T>CCA349987832SLC40A1c.1054A>G (p.Thr352Ala)
c.934A>G (p.Thr312Ala)
2g.189563932T>GCA349987833SLC40A1c.1054A>C (p.Thr352Pro)
c.934A>C (p.Thr312Pro)
2g.189563933T>ACA430502968SLC40A1c.1053A>T (p.Ile351=)
c.933A>T (p.Ile311=)
2g.189563933T>CCA349987834SLC40A1c.1053A>G (p.Ile351Met)
c.933A>G (p.Ile311Met)
2g.189563933T>GCA430502969SLC40A1c.1053A>C (p.Ile351=)
c.933A>C (p.Ile311=)
2g.189563934A=CA1315654187SLC40A1c.1052T= (p.Ile351=)
c.932T= (p.Ile311=)
2g.189563934A>CCA349987835SLC40A1c.1052T>G (p.Ile351Arg)
c.932T>G (p.Ile311Arg)
2g.189563934A>GCA62902899SLC40A1c.1052T>C (p.Ile351Thr)
c.932T>C (p.Ile311Thr)
dbSNP
2g.189563934A>TCA349987836SLC40A1c.1052T>A (p.Ile351Lys)
c.932T>A (p.Ile311Lys)
2g.189563935T>ACA349987837SLC40A1c.1051A>T (p.Ile351Leu)
c.931A>T (p.Ile311Leu)
2g.189563935T>CCA2024125SLC40A1c.1051A>G (p.Ile351Val)
c.931A>G (p.Ile311Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563935T>GCA349987838SLC40A1c.1051A>C (p.Ile351Leu)
c.931A>C (p.Ile311Leu)
2g.189563935T=CA1315654191SLC40A1c.1051A= (p.Ile351=)
c.931A= (p.Ile311=)
2g.189563936A=CA1315654194SLC40A1c.1050T= (p.Ala350=)
c.930T= (p.Ala310=)
2g.189563936A>CCA430502971SLC40A1c.1050T>G (p.Ala350=)
c.930T>G (p.Ala310=)
2g.189563936A>GCA430502972SLC40A1c.1050T>C (p.Ala350=)
c.930T>C (p.Ala310=)
dbSNP gnomAD v2 gnomAD v4
2g.189563936A>TCA430502973SLC40A1c.1050T>A (p.Ala350=)
c.930T>A (p.Ala310=)
gnomAD v4
2g.189563937G>ACA349987841SLC40A1c.1049C>T (p.Ala350Val)
c.929C>T (p.Ala310Val)
ClinVar dbSNP
2g.189563937G>CCA349987839SLC40A1c.1049C>G (p.Ala350Gly)
c.929C>G (p.Ala310Gly)
2g.189563937G=CA1315654198SLC40A1c.1049C= (p.Ala350=)
c.929C= (p.Ala310=)
2g.189563937G>TCA349987840SLC40A1c.1049C>A (p.Ala350Asp)
c.929C>A (p.Ala310Asp)
ClinVar dbSNP
2g.189563938C>ACA349987842SLC40A1c.1048G>T (p.Ala350Ser)
c.928G>T (p.Ala310Ser)
gnomAD v4
2g.189563938C>GCA349987843SLC40A1c.1048G>C (p.Ala350Pro)
c.928G>C (p.Ala310Pro)
2g.189563938C>TCA349987844SLC40A1c.1048G>A (p.Ala350Thr)
c.928G>A (p.Ala310Thr)
ClinVar dbSNP
2g.189563939T>ACA430502977SLC40A1c.1047A>T (p.Ser349=)
c.927A>T (p.Ser309=)
2g.189563939T>CCA430502978SLC40A1c.1047A>G (p.Ser349=)
c.927A>G (p.Ser309=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189563939T>GCA430502979SLC40A1c.1047A>C (p.Ser349=)
c.927A>C (p.Ser309=)
2g.189563939T=CA1315654201SLC40A1c.1047A= (p.Ser349=)
c.927A= (p.Ser309=)
2g.189563940G>ACA349987845SLC40A1c.1046C>T (p.Ser349Leu)
c.926C>T (p.Ser309Leu)
2g.189563940G>CCA349987846SLC40A1c.1046C>G (p.Ser349Ter)
c.926C>G (p.Ser309Ter)
2g.189563940G>TCA349987847SLC40A1c.1046C>A (p.Ser349Ter)
c.926C>A (p.Ser309Ter)
2g.189563941A>CCA349987848SLC40A1c.1045T>G (p.Ser349Ala)
c.925T>G (p.Ser309Ala)
2g.189563941A>GCA349987849SLC40A1c.1045T>C (p.Ser349Pro)
c.925T>C (p.Ser309Pro)
2g.189563941A>TCA349987850SLC40A1c.1045T>A (p.Ser349Thr)
c.925T>A (p.Ser309Thr)
2g.189563942T>ACA430502983SLC40A1c.1044A>T (p.Ala348=)
c.924A>T (p.Ala308=)
dbSNP gnomAD v2 gnomAD v4
2g.189563942T>CCA430502984SLC40A1c.1044A>G (p.Ala348=)
c.924A>G (p.Ala308=)
2g.189563942T>GCA430502985SLC40A1c.1044A>C (p.Ala348=)
c.924A>C (p.Ala308=)
2g.189563942T=CA1315654203SLC40A1c.1044A= (p.Ala348=)
c.924A= (p.Ala308=)
2g.189563943G>ACA349987851SLC40A1c.1043C>T (p.Ala348Val)
c.923C>T (p.Ala308Val)
2g.189563943G>CCA349987852SLC40A1c.1043C>G (p.Ala348Gly)
c.923C>G (p.Ala308Gly)
2g.189563943G>TCA349987853SLC40A1c.1043C>A (p.Ala348Glu)
c.923C>A (p.Ala308Glu)
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

Number of alleles fetched