Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.42428768G>ACA259655SLC20A2c.1784C>T (p.Thr595Met)
c.1643C>T (p.Thr548Met)
c.1373C>T (p.Thr458Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.42428768G>CCA371094983SLC20A2c.1784C>G (p.Thr595Arg)
c.1643C>G (p.Thr548Arg)
c.1373C>G (p.Thr458Arg)
8g.42428768G=CA1779427135SLC20A2c.1784C= (p.Thr595=)
c.1643C= (p.Thr548=)
c.1373C= (p.Thr458=)
8g.42428768G>TCA371094984SLC20A2c.1784C>A (p.Thr595Lys)
c.1643C>A (p.Thr548Lys)
c.1373C>A (p.Thr458Lys)
8g.42428769T>ACA371094987SLC20A2c.1783A>T (p.Thr595Ser)
c.1642A>T (p.Thr548Ser)
c.1372A>T (p.Thr458Ser)
8g.42428769T>CCA371094985SLC20A2c.1783A>G (p.Thr595Ala)
c.1642A>G (p.Thr548Ala)
c.1372A>G (p.Thr458Ala)
8g.42428769T>GCA371094986SLC20A2c.1783A>C (p.Thr595Pro)
c.1642A>C (p.Thr548Pro)
c.1372A>C (p.Thr458Pro)
8g.42428770G>ACA460561409SLC20A2c.1782C>T (p.Thr594=)
c.1641C>T (p.Thr547=)
c.1371C>T (p.Thr457=)
 gnomAD v4
8g.42428770G>CCA460561410SLC20A2c.1782C>G (p.Thr594=)
c.1641C>G (p.Thr547=)
c.1371C>G (p.Thr457=)
8g.42428770G=CA1779427139SLC20A2c.1782C= (p.Thr594=)
c.1641C= (p.Thr547=)
c.1371C= (p.Thr457=)
8g.42428770G>TCA4733220SLC20A2c.1782C>A (p.Thr594=)
c.1641C>A (p.Thr547=)
c.1371C>A (p.Thr457=)
 dbSNP ExAC gnomAD v2
8g.42428771G>ACA371094988SLC20A2c.1781C>T (p.Thr594Ile)
c.1640C>T (p.Thr547Ile)
c.1370C>T (p.Thr457Ile)
8g.42428771G>CCA371094989SLC20A2c.1781C>G (p.Thr594Ser)
c.1640C>G (p.Thr547Ser)
c.1370C>G (p.Thr457Ser)
8g.42428771G>TCA371094990SLC20A2c.1781C>A (p.Thr594Asn)
c.1640C>A (p.Thr547Asn)
c.1370C>A (p.Thr457Asn)
 gnomAD v4
8g.42428772T>ACA371094991SLC20A2c.1780A>T (p.Thr594Ser)
c.1639A>T (p.Thr547Ser)
c.1369A>T (p.Thr457Ser)
8g.42428772T>CCA371094992SLC20A2c.1780A>G (p.Thr594Ala)
c.1639A>G (p.Thr547Ala)
c.1369A>G (p.Thr457Ala)
8g.42428772T>GCA371094993SLC20A2c.1780A>C (p.Thr594Pro)
c.1639A>C (p.Thr547Pro)
c.1369A>C (p.Thr457Pro)
8g.42428773G>ACA176005449SLC20A2c.1779C>T (p.Ser593=)
c.1638C>T (p.Ser546=)
c.1368C>T (p.Ser456=)
 dbSNP gnomAD v4
8g.42428773G>CCA371094994SLC20A2c.1779C>G (p.Ser593Arg)
c.1638C>G (p.Ser546Arg)
c.1368C>G (p.Ser456Arg)
8g.42428773G=CA1779427142SLC20A2c.1779C= (p.Ser593=)
c.1638C= (p.Ser546=)
c.1368C= (p.Ser456=)
8g.42428773G>TCA371094995SLC20A2c.1779C>A (p.Ser593Arg)
c.1638C>A (p.Ser546Arg)
c.1368C>A (p.Ser456Arg)
8g.42428775_42428785delCA2687114411SLC20A2c.1769_1779del (p.Leu590HisfsTer5)
c.1628_1638del (p.Leu543HisfsTer5)
c.1358_1368del (p.Leu453HisfsTer5)
 gnomAD v4
8g.42428774C>ACA371094996SLC20A2c.1778G>T (p.Ser593Ile)
c.1637G>T (p.Ser546Ile)
c.1367G>T (p.Ser456Ile)
 gnomAD v4
8g.42428774C>GCA371094997SLC20A2c.1778G>C (p.Ser593Thr)
c.1637G>C (p.Ser546Thr)
c.1367G>C (p.Ser456Thr)
8g.42428774C>TCA371094998SLC20A2c.1778G>A (p.Ser593Asn)
c.1637G>A (p.Ser546Asn)
c.1367G>A (p.Ser456Asn)
 gnomAD v4
8g.42428775T>ACA371095000SLC20A2c.1777A>T (p.Ser593Cys)
c.1636A>T (p.Ser546Cys)
c.1366A>T (p.Ser456Cys)
8g.42428775T>CCA371095001SLC20A2c.1777A>G (p.Ser593Gly)
c.1636A>G (p.Ser546Gly)
c.1366A>G (p.Ser456Gly)
8g.42428775T>GCA371094999SLC20A2c.1777A>C (p.Ser593Arg)
c.1636A>C (p.Ser546Arg)
c.1366A>C (p.Ser456Arg)
8g.42428776delCA2687114412SLC20A2c.1776del (p.Ser593AlafsTer?)
c.1776del (p.Ser593AlafsTer8)
c.1635del (p.Ser546AlafsTer?)
c.1365del (p.Ser456AlafsTer?)
 gnomAD v4
8g.42428776G>ACA460561411SLC20A2c.1776C>T (p.Val592=)
c.1635C>T (p.Val545=)
c.1365C>T (p.Val455=)
 gnomAD v4
8g.42428776G>CCA460561412SLC20A2c.1776C>G (p.Val592=)
c.1635C>G (p.Val545=)
c.1365C>G (p.Val455=)
8g.42428776G>TCA460561413SLC20A2c.1776C>A (p.Val592=)
c.1635C>A (p.Val545=)
c.1365C>A (p.Val455=)
 COSMIC
8g.42428777A>CCA371095004SLC20A2c.1775T>G (p.Val592Gly)
c.1634T>G (p.Val545Gly)
c.1364T>G (p.Val455Gly)
8g.42428777A>GCA371095002SLC20A2c.1775T>C (p.Val592Ala)
c.1634T>C (p.Val545Ala)
c.1364T>C (p.Val455Ala)
8g.42428777A>TCA371095003SLC20A2c.1775T>A (p.Val592Asp)
c.1634T>A (p.Val545Asp)
c.1364T>A (p.Val455Asp)
8g.42428778C>ACA371095005SLC20A2c.1774G>T (p.Val592Phe)
c.1633G>T (p.Val545Phe)
c.1363G>T (p.Val455Phe)
8g.42428778C=CA1779427146SLC20A2c.1774G= (p.Val592=)
c.1633G= (p.Val545=)
c.1363G= (p.Val455=)
8g.42428778C>GCA371095006SLC20A2c.1774G>C (p.Val592Leu)
c.1633G>C (p.Val545Leu)
c.1363G>C (p.Val455Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.42428778C>TCA371095007SLC20A2c.1774G>A (p.Val592Ile)
c.1633G>A (p.Val545Ile)
c.1363G>A (p.Val455Ile)
8g.42428779T>ACA460561414SLC20A2c.1773A>T (p.Pro591=)
c.1632A>T (p.Pro544=)
c.1362A>T (p.Pro454=)
8g.42428779T>CCA460561415SLC20A2c.1773A>G (p.Pro591=)
c.1632A>G (p.Pro544=)
c.1362A>G (p.Pro454=)
8g.42428779T>GCA460561416SLC20A2c.1773A>C (p.Pro591=)
c.1632A>C (p.Pro544=)
c.1362A>C (p.Pro454=)
8g.42428780G>ACA371095010SLC20A2c.1772C>T (p.Pro591Leu)
c.1631C>T (p.Pro544Leu)
c.1361C>T (p.Pro454Leu)
8g.42428780G>CCA371095009SLC20A2c.1772C>G (p.Pro591Arg)
c.1631C>G (p.Pro544Arg)
c.1361C>G (p.Pro454Arg)
8g.42428780G>TCA371095008SLC20A2c.1772C>A (p.Pro591Gln)
c.1631C>A (p.Pro544Gln)
c.1361C>A (p.Pro454Gln)
8g.42428781G>ACA371095011SLC20A2c.1771C>T (p.Pro591Ser)
c.1630C>T (p.Pro544Ser)
c.1360C>T (p.Pro454Ser)
8g.42428781G>CCA371095012SLC20A2c.1771C>G (p.Pro591Ala)
c.1630C>G (p.Pro544Ala)
c.1360C>G (p.Pro454Ala)
8g.42428781G>TCA371095013SLC20A2c.1771C>A (p.Pro591Thr)
c.1630C>A (p.Pro544Thr)
c.1360C>A (p.Pro454Thr)
8g.42428782A>CCA460561417SLC20A2c.1770T>G (p.Leu590=)
c.1629T>G (p.Leu543=)
c.1359T>G (p.Leu453=)
8g.42428782A>GCA460561418SLC20A2c.1770T>C (p.Leu590=)
c.1629T>C (p.Leu543=)
c.1359T>C (p.Leu453=)

Number of alleles fetched