Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189564186C>ACA349988392SLC40A1c.800G>T (p.Gly267Val)
c.680G>T (p.Gly227Val)
dbSNP
2g.189564186C=CA1315654488SLC40A1c.800G= (p.Gly267=)
c.680G= (p.Gly227=)
2g.189564186C>GCA349988393SLC40A1c.800G>C (p.Gly267Ala)
c.680G>C (p.Gly227Ala)
2g.189564186C>TCA117529SLC40A1c.800G>A (p.Gly267Asp)
c.680G>A (p.Gly227Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189564187C>ACA349988394SLC40A1c.799G>T (p.Gly267Cys)
c.679G>T (p.Gly227Cys)
gnomAD v4
2g.189564187C=CA1315654490SLC40A1c.799G= (p.Gly267=)
c.679G= (p.Gly227=)
2g.189564187C>GCA349988395SLC40A1c.799G>C (p.Gly267Arg)
c.679G>C (p.Gly227Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189564187C>TCA349988396SLC40A1c.799G>A (p.Gly267Ser)
c.679G>A (p.Gly227Ser)
2g.189564188C>ACA349988397SLC40A1c.798G>T (p.Met266Ile)
c.678G>T (p.Met226Ile)
2g.189564188C=CA1315654494SLC40A1c.798G= (p.Met266=)
c.678G= (p.Met226=)
2g.189564188C>GCA349988398SLC40A1c.798G>C (p.Met266Ile)
c.678G>C (p.Met226Ile)
2g.189564188C>TCA62902910SLC40A1c.798G>A (p.Met266Ile)
c.678G>A (p.Met226Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189564189A>CCA349988401SLC40A1c.797T>G (p.Met266Arg)
c.677T>G (p.Met226Arg)
2g.189564189A>GCA349988400SLC40A1c.797T>C (p.Met266Thr)
c.677T>C (p.Met226Thr)
2g.189564189A>TCA349988399SLC40A1c.797T>A (p.Met266Lys)
c.677T>A (p.Met226Lys)
2g.189564190T>ACA349988402SLC40A1c.796A>T (p.Met266Leu)
c.676A>T (p.Met226Leu)
2g.189564190T>CCA349988404SLC40A1c.796A>G (p.Met266Val)
c.676A>G (p.Met226Val)
gnomAD v4
2g.189564190T>GCA349988403SLC40A1c.796A>C (p.Met266Leu)
c.676A>C (p.Met226Leu)
2g.189564191T>ACA430502774SLC40A1c.795A>T (p.Leu265=)
c.675A>T (p.Leu225=)
2g.189564191T>CCA2024144SLC40A1c.795A>G (p.Leu265=)
c.675A>G (p.Leu225=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.189564191T>GCA430502776SLC40A1c.795A>C (p.Leu265=)
c.675A>C (p.Leu225=)
2g.189564191T=CA1315654500SLC40A1c.795A= (p.Leu265=)
c.675A= (p.Leu225=)
2g.189564192A>CCA349988405SLC40A1c.794T>G (p.Leu265Arg)
c.674T>G (p.Leu225Arg)
2g.189564192A>GCA349988406SLC40A1c.794T>C (p.Leu265Pro)
c.674T>C (p.Leu225Pro)
2g.189564192A>TCA349988407SLC40A1c.794T>A (p.Leu265Gln)
c.674T>A (p.Leu225Gln)
2g.189564193G>ACA430502780SLC40A1c.793C>T (p.Leu265=)
c.673C>T (p.Leu225=)
2g.189564193G>CCA349988408SLC40A1c.793C>G (p.Leu265Val)
c.673C>G (p.Leu225Val)
gnomAD v4
2g.189564193G>TCA349988409SLC40A1c.793C>A (p.Leu265Ile)
c.673C>A (p.Leu225Ile)
2g.189564194A=CA1315654503SLC40A1c.792T= (p.His264=)
c.672T= (p.His224=)
2g.189564194A>CCA62902911SLC40A1c.792T>G (p.His264Gln)
c.672T>G (p.His224Gln)
dbSNP gnomAD v3 gnomAD v4
2g.189564194A>GCA430502783SLC40A1c.792T>C (p.His264=)
c.672T>C (p.His224=)
2g.189564194A>TCA349988410SLC40A1c.792T>A (p.His264Gln)
c.672T>A (p.His224Gln)
2g.189564195T>ACA349988411SLC40A1c.791A>T (p.His264Leu)
c.671A>T (p.His224Leu)
2g.189564195T>CCA349988412SLC40A1c.791A>G (p.His264Arg)
c.671A>G (p.His224Arg)
2g.189564195T>GCA349988413SLC40A1c.791A>C (p.His264Pro)
c.671A>C (p.His224Pro)
2g.189564196G>ACA349988416SLC40A1c.790C>T (p.His264Tyr)
c.670C>T (p.His224Tyr)
dbSNP gnomAD v2
2g.189564196G>CCA349988415SLC40A1c.790C>G (p.His264Asp)
c.670C>G (p.His224Asp)
2g.189564196G=CA1315654509SLC40A1c.790C= (p.His264=)
c.670C= (p.His224=)
2g.189564196G>TCA349988414SLC40A1c.790C>A (p.His264Asn)
c.670C>A (p.His224Asn)
2g.189564197A>CCA430502788SLC40A1c.789T>G (p.Thr263=)
c.669T>G (p.Thr223=)
2g.189564197A>GCA430502790SLC40A1c.789T>C (p.Thr263=)
c.669T>C (p.Thr223=)
2g.189564197A>TCA430502792SLC40A1c.789T>A (p.Thr263=)
c.669T>A (p.Thr223=)
2g.189564198G>ACA349988417SLC40A1c.788C>T (p.Thr263Ile)
c.668C>T (p.Thr223Ile)
2g.189564198G>CCA349988418SLC40A1c.788C>G (p.Thr263Ser)
c.668C>G (p.Thr223Ser)
COSMIC
2g.189564198G>TCA349988419SLC40A1c.788C>A (p.Thr263Asn)
c.668C>A (p.Thr223Asn)
2g.189564199T>ACA349988420SLC40A1c.787A>T (p.Thr263Ser)
c.667A>T (p.Thr223Ser)
2g.189564199T>CCA349988421SLC40A1c.787A>G (p.Thr263Ala)
c.667A>G (p.Thr223Ala)
gnomAD v4
2g.189564199T>GCA349988422SLC40A1c.787A>C (p.Thr263Pro)
c.667A>C (p.Thr223Pro)
2g.189564200T>ACA430502794SLC40A1c.786A>T (p.Gly262=)
c.666A>T (p.Gly222=)
2g.189564200T>CCA430502795SLC40A1c.786A>G (p.Gly262=)
c.666A>G (p.Gly222=)

Number of alleles fetched