Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189561927T>ACA2024030SLC40A1c.1667A>T (p.Asp556Val)
c.1547A>T (p.Asp516Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189561927T>CCA349986509SLC40A1c.1667A>G (p.Asp556Gly)
c.1547A>G (p.Asp516Gly)
2g.189561927T>GCA349986510SLC40A1c.1667A>C (p.Asp556Ala)
c.1547A>C (p.Asp516Ala)
2g.189561927T=CA1315652672SLC40A1c.1667A= (p.Asp556=)
c.1547A= (p.Asp516=)
2g.189561928C>ACA349986511SLC40A1c.1666G>T (p.Asp556Tyr)
c.1546G>T (p.Asp516Tyr)
2g.189561928C=CA1315652675SLC40A1c.1666G= (p.Asp556=)
c.1546G= (p.Asp516=)
2g.189561928C>GCA349986512SLC40A1c.1666G>C (p.Asp556His)
c.1546G>C (p.Asp516His)
 dbSNP
2g.189561928C>TCA349986513SLC40A1c.1666G>A (p.Asp556Asn)
c.1546G>A (p.Asp516Asn)
2g.189561929A>CCA430502145SLC40A1c.1665T>G (p.Pro555=)
c.1545T>G (p.Pro515=)
2g.189561929A>GCA430502146SLC40A1c.1665T>C (p.Pro555=)
c.1545T>C (p.Pro515=)
2g.189561929A>TCA430502147SLC40A1c.1665T>A (p.Pro555=)
c.1545T>A (p.Pro515=)
2g.189561930G>ACA349986514SLC40A1c.1664C>T (p.Pro555Leu)
c.1544C>T (p.Pro515Leu)
2g.189561930G>CCA349986516SLC40A1c.1664C>G (p.Pro555Arg)
c.1544C>G (p.Pro515Arg)
 gnomAD v4
2g.189561930G>TCA349986515SLC40A1c.1664C>A (p.Pro555His)
c.1544C>A (p.Pro515His)
2g.189561931G>ACA2024031SLC40A1c.1663C>T (p.Pro555Ser)
c.1543C>T (p.Pro515Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189561931G>CCA349986517SLC40A1c.1663C>G (p.Pro555Ala)
c.1543C>G (p.Pro515Ala)
2g.189561931G=CA1315652677SLC40A1c.1663C= (p.Pro555=)
c.1543C= (p.Pro515=)
2g.189561931G>TCA349986518SLC40A1c.1663C>A (p.Pro555Thr)
c.1543C>A (p.Pro515Thr)
2g.189561932A=CA1315652681SLC40A1c.1662T= (p.Gly554=)
c.1542T= (p.Gly514=)
2g.189561932A>CCA430502148SLC40A1c.1662T>G (p.Gly554=)
c.1542T>G (p.Gly514=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189561932A>GCA430502149SLC40A1c.1662T>C (p.Gly554=)
c.1542T>C (p.Gly514=)
2g.189561932A>TCA430502150SLC40A1c.1662T>A (p.Gly554=)
c.1542T>A (p.Gly514=)
2g.189561933C>ACA349986519SLC40A1c.1661G>T (p.Gly554Val)
c.1541G>T (p.Gly514Val)
2g.189561933C=CA1315652683SLC40A1c.1661G= (p.Gly554=)
c.1541G= (p.Gly514=)
2g.189561933C>GCA349986520SLC40A1c.1661G>C (p.Gly554Ala)
c.1541G>C (p.Gly514Ala)
2g.189561933C>TCA349986521SLC40A1c.1661G>A (p.Gly554Asp)
c.1541G>A (p.Gly514Asp)
 dbSNP gnomAD v4
2g.189561934C>ACA349986522SLC40A1c.1660G>T (p.Gly554Cys)
c.1540G>T (p.Gly514Cys)
2g.189561934C=CA1315652687SLC40A1c.1660G= (p.Gly554=)
c.1540G= (p.Gly514=)
2g.189561934C>GCA349986523SLC40A1c.1660G>C (p.Gly554Arg)
c.1540G>C (p.Gly514Arg)
 dbSNP gnomAD v4
2g.189561934C>TCA2024032SLC40A1c.1660G>A (p.Gly554Ser)
c.1540G>A (p.Gly514Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189561935G>ACA62902755SLC40A1c.1659C>T (p.Cys553=)
c.1539C>T (p.Cys513=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.189561935G>CCA349986524SLC40A1c.1659C>G (p.Cys553Trp)
c.1539C>G (p.Cys513Trp)
2g.189561935G=CA1315652690SLC40A1c.1659C= (p.Cys553=)
c.1539C= (p.Cys513=)
2g.189561935G>TCA349986525SLC40A1c.1659C>A (p.Cys553Ter)
c.1539C>A (p.Cys513Ter)
2g.189561936C>ACA349986528SLC40A1c.1658G>T (p.Cys553Phe)
c.1538G>T (p.Cys513Phe)
2g.189561936C=CA1315652694SLC40A1c.1658G= (p.Cys553=)
c.1538G= (p.Cys513=)
2g.189561936C>GCA349986526SLC40A1c.1658G>C (p.Cys553Ser)
c.1538G>C (p.Cys513Ser)
2g.189561936C>TCA349986527SLC40A1c.1658G>A (p.Cys553Tyr)
c.1538G>A (p.Cys513Tyr)
 dbSNP
2g.189561937A>CCA349986529SLC40A1c.1657T>G (p.Cys553Gly)
c.1537T>G (p.Cys513Gly)
2g.189561937A>GCA349986530SLC40A1c.1657T>C (p.Cys553Arg)
c.1537T>C (p.Cys513Arg)
2g.189561937A>TCA349986531SLC40A1c.1657T>A (p.Cys553Ser)
c.1537T>A (p.Cys513Ser)
2g.189561937_189561938insGCA2566368304SLC40A1c.1656_1657insC (p.Cys553LeufsTer4)
c.1536_1537insC (p.Cys513LeufsTer4)
2g.189561938A>CCA430502151SLC40A1c.1656T>G (p.Ala552=)
c.1536T>G (p.Ala512=)
2g.189561938A>GCA430502152SLC40A1c.1656T>C (p.Ala552=)
c.1536T>C (p.Ala512=)
2g.189561938A>TCA430502153SLC40A1c.1656T>A (p.Ala552=)
c.1536T>A (p.Ala512=)
2g.189561939G>ACA349986532SLC40A1c.1655C>T (p.Ala552Val)
c.1535C>T (p.Ala512Val)
2g.189561939G>CCA349986533SLC40A1c.1655C>G (p.Ala552Gly)
c.1535C>G (p.Ala512Gly)
2g.189561939G>TCA349986534SLC40A1c.1655C>A (p.Ala552Asp)
c.1535C>A (p.Ala512Asp)
2g.189561939_189561947delCA2740096376SLC40A1c.1647_1655del (p.Lys549_Ala552delinsAsn)
c.1527_1535del (p.Lys509_Ala512delinsAsn)
 ClinVar
2g.189561940C>ACA349986535SLC40A1c.1654G>T (p.Ala552Ser)
c.1534G>T (p.Ala512Ser)
2g.189561940C=CA1315652698SLC40A1c.1654G= (p.Ala552=)
c.1534G= (p.Ala512=)
2g.189561940C>GCA349986536SLC40A1c.1654G>C (p.Ala552Pro)
c.1534G>C (p.Ala512Pro)
2g.189561940C>TCA2024033SLC40A1c.1654G>A (p.Ala552Thr)
c.1534G>A (p.Ala512Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189561941A>CCA349986537SLC40A1c.1653T>G (p.Phe551Leu)
c.1533T>G (p.Phe511Leu)
2g.189561941A>GCA430502154SLC40A1c.1653T>C (p.Phe551=)
c.1533T>C (p.Phe511=)
 gnomAD v4
2g.189561941A>TCA349986538SLC40A1c.1653T>A (p.Phe551Leu)
c.1533T>A (p.Phe511Leu)
2g.189561942A>CCA349986540SLC40A1c.1652T>G (p.Phe551Cys)
c.1532T>G (p.Phe511Cys)
2g.189561942A>GCA349986541SLC40A1c.1652T>C (p.Phe551Ser)
c.1532T>C (p.Phe511Ser)
2g.189561942A>TCA349986539SLC40A1c.1652T>A (p.Phe551Tyr)
c.1532T>A (p.Phe511Tyr)
2g.189561943A>CCA349986544SLC40A1c.1651T>G (p.Phe551Val)
c.1531T>G (p.Phe511Val)
2g.189561943A>GCA349986542SLC40A1c.1651T>C (p.Phe551Leu)
c.1531T>C (p.Phe511Leu)
2g.189561943A>TCA349986543SLC40A1c.1651T>A (p.Phe551Ile)
c.1531T>A (p.Phe511Ile)
2g.189561943_189561944insAGCCGGCA2567078700SLC40A1c.1650_1651insCCGGCT (p.Leu550_Phe551insProAla)
c.1530_1531insCCGGCT (p.Leu510_Phe511insProAla)
2g.189561944G>ACA430502155SLC40A1c.1650C>T (p.Leu550=)
c.1530C>T (p.Leu510=)
 dbSNP
2g.189561944G>CCA430502156SLC40A1c.1650C>G (p.Leu550=)
c.1530C>G (p.Leu510=)
2g.189561944G=CA1315652702SLC40A1c.1650C= (p.Leu550=)
c.1530C= (p.Leu510=)
2g.189561944G>TCA430502157SLC40A1c.1650C>A (p.Leu550=)
c.1530C>A (p.Leu510=)
2g.189561945A>CCA349986545SLC40A1c.1649T>G (p.Leu550Arg)
c.1529T>G (p.Leu510Arg)
2g.189561945A>GCA349986546SLC40A1c.1649T>C (p.Leu550Pro)
c.1529T>C (p.Leu510Pro)
 gnomAD v4
2g.189561945A>TCA349986547SLC40A1c.1649T>A (p.Leu550His)
c.1529T>A (p.Leu510His)
2g.189561946G>ACA349986548SLC40A1c.1648C>T (p.Leu550Phe)
c.1528C>T (p.Leu510Phe)
2g.189561946G>CCA349986549SLC40A1c.1648C>G (p.Leu550Val)
c.1528C>G (p.Leu510Val)
 gnomAD v4
2g.189561946G>TCA349986550SLC40A1c.1648C>A (p.Leu550Ile)
c.1528C>A (p.Leu510Ile)
2g.189561947C>ACA349986551SLC40A1c.1647G>T (p.Lys549Asn)
c.1527G>T (p.Lys509Asn)
2g.189561947C>GCA349986552SLC40A1c.1647G>C (p.Lys549Asn)
c.1527G>C (p.Lys509Asn)
2g.189561947C>TCA430502158SLC40A1c.1647G>A (p.Lys549=)
c.1527G>A (p.Lys509=)
2g.189561948_189561954delCA2753593792SLC40A1c.1641_1647del (p.Asn548SerfsTer26)
c.1521_1527del (p.Asn508SerfsTer26)
2g.189561948T>ACA349986553SLC40A1c.1646A>T (p.Lys549Met)
c.1526A>T (p.Lys509Met)
2g.189561948T>CCA349986554SLC40A1c.1646A>G (p.Lys549Arg)
c.1526A>G (p.Lys509Arg)
2g.189561948T>GCA349986555SLC40A1c.1646A>C (p.Lys549Thr)
c.1526A>C (p.Lys509Thr)
2g.189561949T>ACA349986558SLC40A1c.1645A>T (p.Lys549Ter)
c.1525A>T (p.Lys509Ter)
2g.189561949T>CCA349986556SLC40A1c.1645A>G (p.Lys549Glu)
c.1525A>G (p.Lys509Glu)
2g.189561949T>GCA349986557SLC40A1c.1645A>C (p.Lys549Gln)
c.1525A>C (p.Lys509Gln)
2g.189561950G>ACA2024034SLC40A1c.1644C>T (p.Asn548=)
c.1524C>T (p.Asn508=)
 dbSNP ExAC gnomAD v2
2g.189561950G>CCA349986559SLC40A1c.1644C>G (p.Asn548Lys)
c.1524C>G (p.Asn508Lys)
2g.189561950G=CA1315652706SLC40A1c.1644C= (p.Asn548=)
c.1524C= (p.Asn508=)
2g.189561950G>TCA349986560SLC40A1c.1644C>A (p.Asn548Lys)
c.1524C>A (p.Asn508Lys)
2g.189561951T>ACA349986561SLC40A1c.1643A>T (p.Asn548Ile)
c.1523A>T (p.Asn508Ile)
2g.189561951T>CCA2024035SLC40A1c.1643A>G (p.Asn548Ser)
c.1523A>G (p.Asn508Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189561951T>GCA349986562SLC40A1c.1643A>C (p.Asn548Thr)
c.1523A>C (p.Asn508Thr)
2g.189561951T=CA1315652709SLC40A1c.1643A= (p.Asn548=)
c.1523A= (p.Asn508=)
2g.189561952T>ACA349986563SLC40A1c.1642A>T (p.Asn548Tyr)
c.1522A>T (p.Asn508Tyr)
2g.189561952T>CCA349986564SLC40A1c.1642A>G (p.Asn548Asp)
c.1522A>G (p.Asn508Asp)
2g.189561952T>GCA349986565SLC40A1c.1642A>C (p.Asn548His)
c.1522A>C (p.Asn508His)
2g.189561953T>ACA430502161SLC40A1c.1641A>T (p.Gly547=)
c.1521A>T (p.Gly507=)
2g.189561953T>CCA430502159SLC40A1c.1641A>G (p.Gly547=)
c.1521A>G (p.Gly507=)
2g.189561953T>GCA430502160SLC40A1c.1641A>C (p.Gly547=)
c.1521A>C (p.Gly507=)
2g.189561954C>ACA349986566SLC40A1c.1640G>T (p.Gly547Val)
c.1520G>T (p.Gly507Val)
2g.189561954C>GCA349986567SLC40A1c.1640G>C (p.Gly547Ala)
c.1520G>C (p.Gly507Ala)
2g.189561954C>TCA349986568SLC40A1c.1640G>A (p.Gly547Glu)
c.1520G>A (p.Gly507Glu)
2g.189561955C>ACA349986571SLC40A1c.1639G>T (p.Gly547Ter)
c.1519G>T (p.Gly507Ter)
2g.189561955C>GCA349986570SLC40A1c.1639G>C (p.Gly547Arg)
c.1519G>C (p.Gly507Arg)
2g.189561955C>TCA349986569SLC40A1c.1639G>A (p.Gly547Arg)
c.1519G>A (p.Gly507Arg)
2g.189561956C>ACA430502162SLC40A1c.1638G>T (p.Leu546=)
c.1518G>T (p.Leu506=)
2g.189561956C>GCA430502163SLC40A1c.1638G>C (p.Leu546=)
c.1518G>C (p.Leu506=)
2g.189561956C>TCA430502164SLC40A1c.1638G>A (p.Leu546=)
c.1518G>A (p.Leu506=)
2g.189561957A=CA1315652711SLC40A1c.1637T= (p.Leu546=)
c.1517T= (p.Leu506=)
2g.189561957A>CCA349986572SLC40A1c.1637T>G (p.Leu546Arg)
c.1517T>G (p.Leu506Arg)
2g.189561957A>GCA349986573SLC40A1c.1637T>C (p.Leu546Pro)
c.1517T>C (p.Leu506Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.189561957A>TCA349986574SLC40A1c.1637T>A (p.Leu546Gln)
c.1517T>A (p.Leu506Gln)
2g.189561958G>ACA430502165SLC40A1c.1636C>T (p.Leu546=)
c.1516C>T (p.Leu506=)
2g.189561958G>CCA2024036SLC40A1c.1636C>G (p.Leu546Val)
c.1516C>G (p.Leu506Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189561958G=CA1315652717SLC40A1c.1636C= (p.Leu546=)
c.1516C= (p.Leu506=)
2g.189561958G>TCA349986575SLC40A1c.1636C>A (p.Leu546Met)
c.1516C>A (p.Leu506Met)
2g.189561959A>CCA430502166SLC40A1c.1635T>G (p.Thr545=)
c.1515T>G (p.Thr505=)
2g.189561959A>GCA430502167SLC40A1c.1635T>C (p.Thr545=)
c.1515T>C (p.Thr505=)
2g.189561959A>TCA430502168SLC40A1c.1635T>A (p.Thr545=)
c.1515T>A (p.Thr505=)
2g.189561960G>ACA349986576SLC40A1c.1634C>T (p.Thr545Ile)
c.1514C>T (p.Thr505Ile)
 gnomAD v4
2g.189561960G>CCA349986577SLC40A1c.1634C>G (p.Thr545Ser)
c.1514C>G (p.Thr505Ser)
2g.189561960G>TCA349986578SLC40A1c.1634C>A (p.Thr545Asn)
c.1514C>A (p.Thr505Asn)
2g.189561961T>ACA349986579SLC40A1c.1633A>T (p.Thr545Ser)
c.1513A>T (p.Thr505Ser)
2g.189561961T>CCA349986580SLC40A1c.1633A>G (p.Thr545Ala)
c.1513A>G (p.Thr505Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.189561961T>GCA349986581SLC40A1c.1633A>C (p.Thr545Pro)
c.1513A>C (p.Thr505Pro)
2g.189561961T=CA1315652721SLC40A1c.1633A= (p.Thr545=)
c.1513A= (p.Thr505=)
2g.189561962A>CCA349986582SLC40A1c.1632T>G (p.Asn544Lys)
c.1512T>G (p.Asn504Lys)
2g.189561962A>GCA430502169SLC40A1c.1632T>C (p.Asn544=)
c.1512T>C (p.Asn504=)
2g.189561962A>TCA349986583SLC40A1c.1632T>A (p.Asn544Lys)
c.1512T>A (p.Asn504Lys)
2g.189561963T>ACA349986585SLC40A1c.1631A>T (p.Asn544Ile)
c.1511A>T (p.Asn504Ile)
2g.189561963T>CCA2024037SLC40A1c.1631A>G (p.Asn544Ser)
c.1511A>G (p.Asn504Ser)
 dbSNP ExAC gnomAD v2
2g.189561963T>GCA349986584SLC40A1c.1631A>C (p.Asn544Thr)
c.1511A>C (p.Asn504Thr)
2g.189561963T=CA1315652724SLC40A1c.1631A= (p.Asn544=)
c.1511A= (p.Asn504=)
2g.189561966dupCA2662328393SLC40A1c.1631dup (p.Asn544LysfsTer13)
c.1511dup (p.Asn504LysfsTer13)
 gnomAD v4
2g.189561964T>ACA349986586SLC40A1c.1630A>T (p.Asn544Tyr)
c.1510A>T (p.Asn504Tyr)
2g.189561964T>CCA349986587SLC40A1c.1630A>G (p.Asn544Asp)
c.1510A>G (p.Asn504Asp)
2g.189561964T>GCA349986588SLC40A1c.1630A>C (p.Asn544His)
c.1510A>C (p.Asn504His)
2g.189561965T>ACA349986589SLC40A1c.1629A>T (p.Gln543His)
c.1509A>T (p.Gln503His)
2g.189561965T>CCA2024038SLC40A1c.1629A>G (p.Gln543=)
c.1509A>G (p.Gln503=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189561965T>GCA349986590SLC40A1c.1629A>C (p.Gln543His)
c.1509A>C (p.Gln503His)
 gnomAD v4
2g.189561965T=CA1315652727SLC40A1c.1629A= (p.Gln543=)
c.1509A= (p.Gln503=)
2g.189561966T>ACA349986591SLC40A1c.1628A>T (p.Gln543Leu)
c.1508A>T (p.Gln503Leu)
2g.189561966T>CCA349986592SLC40A1c.1628A>G (p.Gln543Arg)
c.1508A>G (p.Gln503Arg)
2g.189561966T>GCA349986593SLC40A1c.1628A>C (p.Gln543Pro)
c.1508A>C (p.Gln503Pro)
2g.189561967G>ACA349986594SLC40A1c.1627C>T (p.Gln543Ter)
c.1507C>T (p.Gln503Ter)
2g.189561967G>CCA349986595SLC40A1c.1627C>G (p.Gln543Glu)
c.1507C>G (p.Gln503Glu)
2g.189561967G>TCA349986596SLC40A1c.1627C>A (p.Gln543Lys)
c.1507C>A (p.Gln503Lys)
 gnomAD v4
2g.189561968G>ACA430502170SLC40A1c.1626C>T (p.Ala542=)
c.1506C>T (p.Ala502=)
2g.189561968G>CCA430502171SLC40A1c.1626C>G (p.Ala542=)
c.1506C>G (p.Ala502=)
2g.189561968G>TCA430502172SLC40A1c.1626C>A (p.Ala542=)
c.1506C>A (p.Ala502=)
2g.189561969G>ACA349986599SLC40A1c.1625C>T (p.Ala542Val)
c.1505C>T (p.Ala502Val)
2g.189561969G>CCA349986598SLC40A1c.1625C>G (p.Ala542Gly)
c.1505C>G (p.Ala502Gly)
2g.189561969G>TCA349986597SLC40A1c.1625C>A (p.Ala542Asp)
c.1505C>A (p.Ala502Asp)
2g.189561970C>ACA349986600SLC40A1c.1624G>T (p.Ala542Ser)
c.1504G>T (p.Ala502Ser)
2g.189561970C>GCA349986602SLC40A1c.1624G>C (p.Ala542Pro)
c.1504G>C (p.Ala502Pro)
2g.189561970C>TCA349986601SLC40A1c.1624G>A (p.Ala542Thr)
c.1504G>A (p.Ala502Thr)
2g.189561971A>CCA349986603SLC40A1c.1623T>G (p.Phe541Leu)
c.1503T>G (p.Phe501Leu)
2g.189561971A>GCA430502173SLC40A1c.1623T>C (p.Phe541=)
c.1503T>C (p.Phe501=)
2g.189561971A>TCA349986604SLC40A1c.1623T>A (p.Phe541Leu)
c.1503T>A (p.Phe501Leu)
2g.189561972A>CCA349986605SLC40A1c.1622T>G (p.Phe541Cys)
c.1502T>G (p.Phe501Cys)
2g.189561972A>GCA349986607SLC40A1c.1622T>C (p.Phe541Ser)
c.1502T>C (p.Phe501Ser)
2g.189561972A>TCA349986606SLC40A1c.1622T>A (p.Phe541Tyr)
c.1502T>A (p.Phe501Tyr)
 gnomAD v4
2g.189561973A>CCA349986608SLC40A1c.1621T>G (p.Phe541Val)
c.1501T>G (p.Phe501Val)
2g.189561973A>GCA349986609SLC40A1c.1621T>C (p.Phe541Leu)
c.1501T>C (p.Phe501Leu)
 gnomAD v4
2g.189561973A>TCA349986610SLC40A1c.1621T>A (p.Phe541Ile)
c.1501T>A (p.Phe501Ile)
2g.189561974T>ACA430502174SLC40A1c.1620A>T (p.Arg540=)
c.1500A>T (p.Arg500=)
2g.189561974T>CCA430502176SLC40A1c.1620A>G (p.Arg540=)
c.1500A>G (p.Arg500=)
2g.189561974T>GCA430502175SLC40A1c.1620A>C (p.Arg540=)
c.1500A>C (p.Arg500=)
2g.189561975C>ACA349986611SLC40A1c.1619G>T (p.Arg540Leu)
c.1499G>T (p.Arg500Leu)
 gnomAD v4
2g.189561975C=CA1315652730SLC40A1c.1619G= (p.Arg540=)
c.1499G= (p.Arg500=)
2g.189561975C>GCA349986612SLC40A1c.1619G>C (p.Arg540Pro)
c.1499G>C (p.Arg500Pro)
 gnomAD v4
2g.189561975C>TCA2024039SLC40A1c.1619G>A (p.Arg540Gln)
c.1499G>A (p.Arg500Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189561976G>ACA2024040SLC40A1c.1618C>T (p.Arg540Ter)
c.1498C>T (p.Arg500Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189561976G>CCA349986613SLC40A1c.1618C>G (p.Arg540Gly)
c.1498C>G (p.Arg500Gly)
2g.189561976G=CA1315652734SLC40A1c.1618C= (p.Arg540=)
c.1498C= (p.Arg500=)
2g.189561976G>TCA430502177SLC40A1c.1618C>A (p.Arg540=)
c.1498C>A (p.Arg500=)
2g.189561977G>ACA430502178SLC40A1c.1617C>T (p.Phe539=)
c.1497C>T (p.Phe499=)
2g.189561977G>CCA349986614SLC40A1c.1617C>G (p.Phe539Leu)
c.1497C>G (p.Phe499Leu)
2g.189561977G>TCA349986615SLC40A1c.1617C>A (p.Phe539Leu)
c.1497C>A (p.Phe499Leu)
2g.189561978A>CCA349986618SLC40A1c.1616T>G (p.Phe539Cys)
c.1496T>G (p.Phe499Cys)
2g.189561978A>GCA349986617SLC40A1c.1616T>C (p.Phe539Ser)
c.1496T>C (p.Phe499Ser)
2g.189561978A>TCA349986616SLC40A1c.1616T>A (p.Phe539Tyr)
c.1496T>A (p.Phe499Tyr)
2g.189561979A>CCA349986619SLC40A1c.1615T>G (p.Phe539Val)
c.1495T>G (p.Phe499Val)
2g.189561979A>GCA349986620SLC40A1c.1615T>C (p.Phe539Leu)
c.1495T>C (p.Phe499Leu)
2g.189561979A>TCA349986621SLC40A1c.1615T>A (p.Phe539Ile)
c.1495T>A (p.Phe499Ile)
2g.189561980A>CCA349986622SLC40A1c.1614T>G (p.Tyr538Ter)
c.1494T>G (p.Tyr498Ter)
2g.189561980A>GCA430502179SLC40A1c.1614T>C (p.Tyr538=)
c.1494T>C (p.Tyr498=)
2g.189561980A>TCA349986623SLC40A1c.1614T>A (p.Tyr538Ter)
c.1494T>A (p.Tyr498Ter)
2g.189561981T>ACA349986624SLC40A1c.1613A>T (p.Tyr538Phe)
c.1493A>T (p.Tyr498Phe)
2g.189561981T>CCA349986625SLC40A1c.1613A>G (p.Tyr538Cys)
c.1493A>G (p.Tyr498Cys)
2g.189561981T>GCA349986626SLC40A1c.1613A>C (p.Tyr538Ser)
c.1493A>C (p.Tyr498Ser)
2g.189561982A>CCA349986627SLC40A1c.1612T>G (p.Tyr538Asp)
c.1492T>G (p.Tyr498Asp)
2g.189561982A>GCA349986628SLC40A1c.1612T>C (p.Tyr538His)
c.1492T>C (p.Tyr498His)
2g.189561982A>TCA349986629SLC40A1c.1612T>A (p.Tyr538Asn)
c.1492T>A (p.Tyr498Asn)
2g.189561983C>ACA349986632SLC40A1c.1611G>T (p.Met537Ile)
c.1491G>T (p.Met497Ile)
2g.189561983C>GCA349986631SLC40A1c.1611G>C (p.Met537Ile)
c.1491G>C (p.Met497Ile)
2g.189561983C>TCA349986630SLC40A1c.1611G>A (p.Met537Ile)
c.1491G>A (p.Met497Ile)
2g.189561984A=CA1315652739SLC40A1c.1610T= (p.Met537=)
c.1490T= (p.Met497=)
2g.189561984A>CCA349986633SLC40A1c.1610T>G (p.Met537Arg)
c.1490T>G (p.Met497Arg)
2g.189561984A>GCA62902756SLC40A1c.1610T>C (p.Met537Thr)
c.1490T>C (p.Met497Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189561984A>TCA349986634SLC40A1c.1610T>A (p.Met537Lys)
c.1490T>A (p.Met497Lys)
2g.189561985T>ACA349986635SLC40A1c.1609A>T (p.Met537Leu)
c.1489A>T (p.Met497Leu)
2g.189561985T>CCA349986636SLC40A1c.1609A>G (p.Met537Val)
c.1489A>G (p.Met497Val)
2g.189561985T>GCA349986637SLC40A1c.1609A>C (p.Met537Leu)
c.1489A>C (p.Met497Leu)
2g.189561986A=CA1315652757SLC40A1c.1608T= (p.Ile536=)
c.1488T= (p.Ile496=)
2g.189561986A>CCA349986638SLC40A1c.1608T>G (p.Ile536Met)
c.1488T>G (p.Ile496Met)
2g.189561986A>GCA2024041SLC40A1c.1608T>C (p.Ile536=)
c.1488T>C (p.Ile496=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189561986A>TCA430502180SLC40A1c.1608T>A (p.Ile536=)
c.1488T>A (p.Ile496=)
2g.189561987A>CCA349986639SLC40A1c.1607T>G (p.Ile536Ser)
c.1487T>G (p.Ile496Ser)
 gnomAD v4
2g.189561987A>GCA349986640SLC40A1c.1607T>C (p.Ile536Thr)
c.1487T>C (p.Ile496Thr)
2g.189561987A>TCA349986641SLC40A1c.1607T>A (p.Ile536Asn)
c.1487T>A (p.Ile496Asn)
2g.189561988T>ACA62902757SLC40A1c.1606A>T (p.Ile536Phe)
c.1486A>T (p.Ile496Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189561988T>CCA349986643SLC40A1c.1606A>G (p.Ile536Val)
c.1486A>G (p.Ile496Val)
 dbSNP gnomAD v4
2g.189561988T>GCA349986642SLC40A1c.1606A>C (p.Ile536Leu)
c.1486A>C (p.Ile496Leu)
2g.189561988T=CA1315652760SLC40A1c.1606A= (p.Ile536=)
c.1486A= (p.Ile496=)
2g.189561989G>ACA430502414SLC40A1c.1605C>T (p.His535=)
c.1485C>T (p.His495=)
 gnomAD v4
2g.189561989G>CCA349986644SLC40A1c.1605C>G (p.His535Gln)
c.1485C>G (p.His495Gln)
2g.189561989G>TCA349986645SLC40A1c.1605C>A (p.His535Gln)
c.1485C>A (p.His495Gln)
2g.189561990T>ACA349986646SLC40A1c.1604A>T (p.His535Leu)
c.1484A>T (p.His495Leu)
2g.189561990T>CCA349986647SLC40A1c.1604A>G (p.His535Arg)
c.1484A>G (p.His495Arg)
2g.189561990T>GCA349986648SLC40A1c.1604A>C (p.His535Pro)
c.1484A>C (p.His495Pro)
2g.189561991G>ACA349986649SLC40A1c.1603C>T (p.His535Tyr)
c.1483C>T (p.His495Tyr)
 dbSNP gnomAD v4
2g.189561991G>CCA349986650SLC40A1c.1603C>G (p.His535Asp)
c.1483C>G (p.His495Asp)
2g.189561991G=CA1315652763SLC40A1c.1603C= (p.His535=)
c.1483C= (p.His495=)
2g.189561991G>TCA349986651SLC40A1c.1603C>A (p.His535Asn)
c.1483C>A (p.His495Asn)
2g.189561992G>ACA430502416SLC40A1c.1602C>T (p.Gly534=)
c.1482C>T (p.Gly494=)
2g.189561992G>CCA430502417SLC40A1c.1602C>G (p.Gly534=)
c.1482C>G (p.Gly494=)
2g.189561992G=CA1315652766SLC40A1c.1602C= (p.Gly534=)
c.1482C= (p.Gly494=)
2g.189561992G>TCA2024042SLC40A1c.1602C>A (p.Gly534=)
c.1482C>A (p.Gly494=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189561993C>ACA349986652SLC40A1c.1601G>T (p.Gly534Val)
c.1481G>T (p.Gly494Val)
2g.189561993C>GCA349986653SLC40A1c.1601G>C (p.Gly534Ala)
c.1481G>C (p.Gly494Ala)
2g.189561993C>TCA349986654SLC40A1c.1601G>A (p.Gly534Asp)
c.1481G>A (p.Gly494Asp)
2g.189561993_189561994insAATGGGCA2561961457SLC40A1c.1600_1601insCCCATT (p.Gly534delinsAlaHisCys)
c.1480_1481insCCCATT (p.Gly494delinsAlaHisCys)
2g.189561994C>ACA349986656SLC40A1c.1600G>T (p.Gly534Cys)
c.1480G>T (p.Gly494Cys)
2g.189561994C>GCA349986657SLC40A1c.1600G>C (p.Gly534Arg)
c.1480G>C (p.Gly494Arg)
2g.189561994C>TCA349986655SLC40A1c.1600G>A (p.Gly534Ser)
c.1480G>A (p.Gly494Ser)
2g.189561995C>ACA349986659SLC40A1c.1599G>T (p.Met533Ile)
c.1479G>T (p.Met493Ile)
2g.189561995C=CA1315652769SLC40A1c.1599G= (p.Met533=)
c.1479G= (p.Met493=)
2g.189561995C>GCA2024043SLC40A1c.1599G>C (p.Met533Ile)
c.1479G>C (p.Met493Ile)
 dbSNP ExAC
2g.189561995C>TCA349986658SLC40A1c.1599G>A (p.Met533Ile)
c.1479G>A (p.Met493Ile)
2g.189561996A=CA1315652771SLC40A1c.1598T= (p.Met533=)
c.1478T= (p.Met493=)
2g.189561996A>CCA349986660SLC40A1c.1598T>G (p.Met533Arg)
c.1478T>G (p.Met493Arg)
2g.189561996A>GCA2024044SLC40A1c.1598T>C (p.Met533Thr)
c.1478T>C (p.Met493Thr)
 dbSNP ExAC gnomAD v2
2g.189561996A>TCA349986661SLC40A1c.1598T>A (p.Met533Lys)
c.1478T>A (p.Met493Lys)
2g.189561997T>ACA349986662SLC40A1c.1597A>T (p.Met533Leu)
c.1477A>T (p.Met493Leu)
2g.189561997T>CCA2024045SLC40A1c.1597A>G (p.Met533Val)
c.1477A>G (p.Met493Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189561997T>GCA349986663SLC40A1c.1597A>C (p.Met533Leu)
c.1477A>C (p.Met493Leu)
2g.189561997T=CA1315652774SLC40A1c.1597A= (p.Met533=)
c.1477A= (p.Met493=)
2g.189561998T>ACA430502421SLC40A1c.1596A>T (p.Ala532=)
c.1476A>T (p.Ala492=)
2g.189561998T>CCA430502422SLC40A1c.1596A>G (p.Ala532=)
c.1476A>G (p.Ala492=)
2g.189561998T>GCA430502423SLC40A1c.1596A>C (p.Ala532=)
c.1476A>C (p.Ala492=)
2g.189561999G>ACA349986664SLC40A1c.1595C>T (p.Ala532Val)
c.1475C>T (p.Ala492Val)
2g.189561999G>CCA349986665SLC40A1c.1595C>G (p.Ala532Gly)
c.1475C>G (p.Ala492Gly)
2g.189561999G>TCA349986666SLC40A1c.1595C>A (p.Ala532Glu)
c.1475C>A (p.Ala492Glu)
2g.189562000C>ACA349986669SLC40A1c.1594G>T (p.Ala532Ser)
c.1474G>T (p.Ala492Ser)
2g.189562000C>GCA349986668SLC40A1c.1594G>C (p.Ala532Pro)
c.1474G>C (p.Ala492Pro)
2g.189562000C>TCA349986667SLC40A1c.1594G>A (p.Ala532Thr)
c.1474G>A (p.Ala492Thr)
2g.189562001C>ACA430502427SLC40A1c.1593G>T (p.Val531=)
c.1473G>T (p.Val491=)
2g.189562001C=CA1315652778SLC40A1c.1593G= (p.Val531=)
c.1473G= (p.Val491=)
2g.189562001C>GCA430502428SLC40A1c.1593G>C (p.Val531=)
c.1473G>C (p.Val491=)
2g.189562001C>TCA2024046SLC40A1c.1593G>A (p.Val531=)
c.1473G>A (p.Val491=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189562002A=CA1315652784SLC40A1c.1592T= (p.Val531=)
c.1472T= (p.Val491=)
2g.189562002A>CCA349986670SLC40A1c.1592T>G (p.Val531Gly)
c.1472T>G (p.Val491Gly)
2g.189562002A>GCA349986671SLC40A1c.1592T>C (p.Val531Ala)
c.1472T>C (p.Val491Ala)
 ClinVar dbSNP
2g.189562002A>TCA349986672SLC40A1c.1592T>A (p.Val531Glu)
c.1472T>A (p.Val491Glu)
2g.189562003C>ACA349986673SLC40A1c.1591G>T (p.Val531Leu)
c.1471G>T (p.Val491Leu)
2g.189562003C>GCA349986674SLC40A1c.1591G>C (p.Val531Leu)
c.1471G>C (p.Val491Leu)
2g.189562003C>TCA349986675SLC40A1c.1591G>A (p.Val531Met)
c.1471G>A (p.Val491Met)
2g.189562004A>CCA349986676SLC40A1c.1590T>G (p.Phe530Leu)
c.1470T>G (p.Phe490Leu)
2g.189562004A>GCA430502430SLC40A1c.1590T>C (p.Phe530=)
c.1470T>C (p.Phe490=)
2g.189562004A>TCA349986677SLC40A1c.1590T>A (p.Phe530Leu)
c.1470T>A (p.Phe490Leu)
2g.189562005A>CCA349986678SLC40A1c.1589T>G (p.Phe530Cys)
c.1469T>G (p.Phe490Cys)
2g.189562005A>GCA349986679SLC40A1c.1589T>C (p.Phe530Ser)
c.1469T>C (p.Phe490Ser)
2g.189562005A>TCA349986680SLC40A1c.1589T>A (p.Phe530Tyr)
c.1469T>A (p.Phe490Tyr)
2g.189562006A=CA1315652789SLC40A1c.1588T= (p.Phe530=)
c.1468T= (p.Phe490=)
2g.189562006A>CCA349986682SLC40A1c.1588T>G (p.Phe530Val)
c.1468T>G (p.Phe490Val)
2g.189562006A>GCA349986683SLC40A1c.1588T>C (p.Phe530Leu)
c.1468T>C (p.Phe490Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189562006A>TCA349986681SLC40A1c.1588T>A (p.Phe530Ile)
c.1468T>A (p.Phe490Ile)
2g.189562007G>ACA430502432SLC40A1c.1587C>T (p.Ser529=)
c.1467C>T (p.Ser489=)
2g.189562007G>CCA430502433SLC40A1c.1587C>G (p.Ser529=)
c.1467C>G (p.Ser489=)
2g.189562007G>TCA430502434SLC40A1c.1587C>A (p.Ser529=)
c.1467C>A (p.Ser489=)
2g.189562008G>ACA349986684SLC40A1c.1586C>T (p.Ser529Phe)
c.1466C>T (p.Ser489Phe)
2g.189562008G>CCA349986685SLC40A1c.1586C>G (p.Ser529Cys)
c.1466C>G (p.Ser489Cys)
 gnomAD v4
2g.189562008G>TCA349986686SLC40A1c.1586C>A (p.Ser529Tyr)
c.1466C>A (p.Ser489Tyr)
2g.189562009A>CCA349986687SLC40A1c.1585T>G (p.Ser529Ala)
c.1465T>G (p.Ser489Ala)
2g.189562009A>GCA349986688SLC40A1c.1585T>C (p.Ser529Pro)
c.1465T>C (p.Ser489Pro)
 gnomAD v4
2g.189562009A>TCA349986689SLC40A1c.1585T>A (p.Ser529Thr)
c.1465T>A (p.Ser489Thr)
2g.189562010G>ACA430502436SLC40A1c.1584C>T (p.Val528=)
c.1464C>T (p.Val488=)
2g.189562010G>CCA430502437SLC40A1c.1584C>G (p.Val528=)
c.1464C>G (p.Val488=)
 gnomAD v4
2g.189562010G>TCA430502438SLC40A1c.1584C>A (p.Val528=)
c.1464C>A (p.Val488=)
2g.189562011A>CCA349986690SLC40A1c.1583T>G (p.Val528Gly)
c.1463T>G (p.Val488Gly)
2g.189562011A>GCA349986691SLC40A1c.1583T>C (p.Val528Ala)
c.1463T>C (p.Val488Ala)
2g.189562011A>TCA349986692SLC40A1c.1583T>A (p.Val528Asp)
c.1463T>A (p.Val488Asp)
2g.189562012C>ACA349986693SLC40A1c.1582G>T (p.Val528Phe)
c.1462G>T (p.Val488Phe)
2g.189562012C>GCA349986694SLC40A1c.1582G>C (p.Val528Leu)
c.1462G>C (p.Val488Leu)
2g.189562012C>TCA349986695SLC40A1c.1582G>A (p.Val528Ile)
c.1462G>A (p.Val488Ile)
 gnomAD v4
2g.189562013T>ACA430502441SLC40A1c.1581A>T (p.Ser527=)
c.1461A>T (p.Ser487=)
 gnomAD v4
2g.189562013T>CCA430502443SLC40A1c.1581A>G (p.Ser527=)
c.1461A>G (p.Ser487=)
 gnomAD v4
2g.189562013T>GCA430502444SLC40A1c.1581A>C (p.Ser527=)
c.1461A>C (p.Ser487=)
2g.189562014G>ACA349986697SLC40A1c.1580C>T (p.Ser527Leu)
c.1460C>T (p.Ser487Leu)
2g.189562014G>CCA349986698SLC40A1c.1580C>G (p.Ser527Ter)
c.1460C>G (p.Ser487Ter)
2g.189562014G>TCA349986696SLC40A1c.1580C>A (p.Ser527Ter)
c.1460C>A (p.Ser487Ter)
2g.189562015A>CCA349986699SLC40A1c.1579T>G (p.Ser527Ala)
c.1459T>G (p.Ser487Ala)
2g.189562015A>GCA349986700SLC40A1c.1579T>C (p.Ser527Pro)
c.1459T>C (p.Ser487Pro)
2g.189562015A>TCA349986701SLC40A1c.1579T>A (p.Ser527Thr)
c.1459T>A (p.Ser487Thr)
2g.189562016A>CCA349986702SLC40A1c.1578T>G (p.Ile526Met)
c.1458T>G (p.Ile486Met)
 gnomAD v4
2g.189562016A>GCA430502448SLC40A1c.1578T>C (p.Ile526=)
c.1458T>C (p.Ile486=)
2g.189562016A>TCA430502446SLC40A1c.1578T>A (p.Ile526=)
c.1458T>A (p.Ile486=)
2g.189562017A>CCA349986703SLC40A1c.1577T>G (p.Ile526Ser)
c.1457T>G (p.Ile486Ser)
2g.189562017A>GCA349986704SLC40A1c.1577T>C (p.Ile526Thr)
c.1457T>C (p.Ile486Thr)
2g.189562017A>TCA349986705SLC40A1c.1577T>A (p.Ile526Asn)
c.1457T>A (p.Ile486Asn)
2g.189562018T>ACA349986706SLC40A1c.1576A>T (p.Ile526Phe)
c.1456A>T (p.Ile486Phe)
 gnomAD v4
2g.189562018T>CCA349986708SLC40A1c.1576A>G (p.Ile526Val)
c.1456A>G (p.Ile486Val)
2g.189562018T>GCA349986707SLC40A1c.1576A>C (p.Ile526Leu)
c.1456A>C (p.Ile486Leu)
2g.189562019C>ACA349986709SLC40A1c.1575G>T (p.Leu525Phe)
c.1455G>T (p.Leu485Phe)
2g.189562019C>GCA349986710SLC40A1c.1575G>C (p.Leu525Phe)
c.1455G>C (p.Leu485Phe)
2g.189562019C>TCA430502452SLC40A1c.1575G>A (p.Leu525=)
c.1455G>A (p.Leu485=)
2g.189562020A>CCA349986711SLC40A1c.1574T>G (p.Leu525Trp)
c.1454T>G (p.Leu485Trp)
2g.189562020A>GCA349986712SLC40A1c.1574T>C (p.Leu525Ser)
c.1454T>C (p.Leu485Ser)
2g.189562020A>TCA349986713SLC40A1c.1574T>A (p.Leu525Ter)
c.1454T>A (p.Leu485Ter)
2g.189562021A=CA1315652792SLC40A1c.1573T= (p.Leu525=)
c.1453T= (p.Leu485=)
2g.189562021A>CCA349986715SLC40A1c.1573T>G (p.Leu525Val)
c.1453T>G (p.Leu485Val)
2g.189562021A>GCA62902758SLC40A1c.1573T>C (p.Leu525=)
c.1453T>C (p.Leu485=)
 dbSNP gnomAD v4
2g.189562021A>TCA349986714SLC40A1c.1573T>A (p.Leu525Met)
c.1453T>A (p.Leu485Met)
2g.189562022T>ACA430502459SLC40A1c.1572A>T (p.Val524=)
c.1452A>T (p.Val484=)
2g.189562022T>CCA430502460SLC40A1c.1572A>G (p.Val524=)
c.1452A>G (p.Val484=)
 ClinVar dbSNP
2g.189562022T>GCA430502461SLC40A1c.1572A>C (p.Val524=)
c.1452A>C (p.Val484=)
2g.189562023A=CA1315652795SLC40A1c.1571T= (p.Val524=)
c.1451T= (p.Val484=)
2g.189562023A>CCA349986716SLC40A1c.1571T>G (p.Val524Gly)
c.1451T>G (p.Val484Gly)
2g.189562023A>GCA349986717SLC40A1c.1571T>C (p.Val524Ala)
c.1451T>C (p.Val484Ala)
 dbSNP
2g.189562023A>TCA349986718SLC40A1c.1571T>A (p.Val524Glu)
c.1451T>A (p.Val484Glu)
2g.189562024C>ACA349986719SLC40A1c.1570G>T (p.Val524Leu)
c.1450G>T (p.Val484Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.189562024C=CA1315652800SLC40A1c.1570G= (p.Val524=)
c.1450G= (p.Val484=)
2g.189562024C>GCA349986720SLC40A1c.1570G>C (p.Val524Leu)
c.1450G>C (p.Val484Leu)
2g.189562024C>TCA2024047SLC40A1c.1570G>A (p.Val524Ile)
c.1450G>A (p.Val484Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562025G>ACA2024048SLC40A1c.1569C>T (p.Leu523=)
c.1449C>T (p.Leu483=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189562025G>CCA430502468SLC40A1c.1569C>G (p.Leu523=)
c.1449C>G (p.Leu483=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189562025G=CA1315652810SLC40A1c.1569C= (p.Leu523=)
c.1449C= (p.Leu483=)
2g.189562025G>TCA430502469SLC40A1c.1569C>A (p.Leu523=)
c.1449C>A (p.Leu483=)
 gnomAD v4
2g.189562026A>CCA349986721SLC40A1c.1568T>G (p.Leu523Arg)
c.1448T>G (p.Leu483Arg)
2g.189562026A>GCA349986723SLC40A1c.1568T>C (p.Leu523Pro)
c.1448T>C (p.Leu483Pro)
2g.189562026A>TCA349986722SLC40A1c.1568T>A (p.Leu523His)
c.1448T>A (p.Leu483His)
2g.189562027G>ACA349986724SLC40A1c.1567C>T (p.Leu523Phe)
c.1447C>T (p.Leu483Phe)
2g.189562027G>CCA349986725SLC40A1c.1567C>G (p.Leu523Val)
c.1447C>G (p.Leu483Val)
 dbSNP gnomAD v2
2g.189562027G=CA1315652812SLC40A1c.1567C= (p.Leu523=)
c.1447C= (p.Leu483=)
2g.189562027G>TCA349986726SLC40A1c.1567C>A (p.Leu523Ile)
c.1447C>A (p.Leu483Ile)

Number of alleles fetched