Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.46613545T>ACA216165SLC13A3c.292A>T (p.Ile98Phe)
c.151A>T (p.Ile51Phe)
c.181A>T (p.Ile61Phe)
c.-3A>T (n.-3A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613545T>CCA409269722SLC13A3c.292A>G (p.Ile98Val)
c.151A>G (p.Ile51Val)
c.181A>G (p.Ile61Val)
c.-3A>G (n.-3A>G)
20g.46613545T>GCA409269720SLC13A3c.292A>C (p.Ile98Leu)
c.151A>C (p.Ile51Leu)
c.181A>C (p.Ile61Leu)
c.-3A>C (n.-3A>C)
 dbSNP gnomAD v3 gnomAD v4
20g.46613545T=CA2366747141SLC13A3c.292A= (p.Ile98=)
c.151A= (p.Ile51=)
c.181A= (p.Ile61=)
c.-3A= (n.-3A=)
20g.46613546C>ACA510772510SLC13A3c.291G>T (p.Leu97=)
c.150G>T (p.Leu50=)
c.180G>T (p.Leu60=)
c.-4G>T (n.-4G>T)
20g.46613546C>GCA510772511SLC13A3c.291G>C (p.Leu97=)
c.150G>C (p.Leu50=)
c.180G>C (p.Leu60=)
c.-4G>C (n.-4G>C)
20g.46613546C>TCA510772512SLC13A3c.291G>A (p.Leu97=)
c.150G>A (p.Leu50=)
c.180G>A (p.Leu60=)
c.-4G>A (n.-4G>A)
20g.46613547A>CCA409269723SLC13A3c.290T>G (p.Leu97Arg)
c.149T>G (p.Leu50Arg)
c.179T>G (p.Leu60Arg)
c.-5T>G (n.-5T>G)
20g.46613547A>GCA409269728SLC13A3c.290T>C (p.Leu97Pro)
c.149T>C (p.Leu50Pro)
c.179T>C (p.Leu60Pro)
c.-5T>C (n.-5T>C)
20g.46613547A>TCA409269729SLC13A3c.290T>A (p.Leu97Gln)
c.149T>A (p.Leu50Gln)
c.179T>A (p.Leu60Gln)
c.-5T>A (n.-5T>A)
20g.46613548G>ACA9891675SLC13A3c.289C>T (p.Leu97=)
c.148C>T (p.Leu50=)
c.178C>T (p.Leu60=)
c.-6C>T (n.-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613548G>CCA409269734SLC13A3c.289C>G (p.Leu97Val)
c.148C>G (p.Leu50Val)
c.178C>G (p.Leu60Val)
c.-6C>G (n.-6C>G)
20g.46613548G=CA2366747142SLC13A3c.289C= (p.Leu97=)
c.148C= (p.Leu50=)
c.178C= (p.Leu60=)
c.-6C= (n.-6C=)
20g.46613548G>TCA409269738SLC13A3c.289C>A (p.Leu97Met)
c.148C>A (p.Leu50Met)
c.178C>A (p.Leu60Met)
c.-6C>A (n.-6C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.46613549C>ACA510772513SLC13A3c.288G>T (p.Gly96=)
c.147G>T (p.Gly49=)
c.177G>T (p.Gly59=)
c.-7G>T (n.-7G>T)
20g.46613549C>GCA510772514SLC13A3c.288G>C (p.Gly96=)
c.147G>C (p.Gly49=)
c.177G>C (p.Gly59=)
c.-7G>C (n.-7G>C)
 dbSNP
20g.46613549C>TCA510772515SLC13A3c.288G>A (p.Gly96=)
c.147G>A (p.Gly49=)
c.177G>A (p.Gly59=)
c.-7G>A (n.-7G>A)
20g.46613550C>ACA409269740SLC13A3c.287G>T (p.Gly96Val)
c.146G>T (p.Gly49Val)
c.176G>T (p.Gly59Val)
c.-8G>T (n.-8G>T)
20g.46613550C=CA2366747143SLC13A3c.287G= (p.Gly96=)
c.146G= (p.Gly49=)
c.176G= (p.Gly59=)
c.-8G= (n.-8G=)
20g.46613550C>GCA409269742SLC13A3c.287G>C (p.Gly96Ala)
c.146G>C (p.Gly49Ala)
c.176G>C (p.Gly59Ala)
c.-8G>C (n.-8G>C)
20g.46613550C>TCA409269747SLC13A3c.287G>A (p.Gly96Glu)
c.146G>A (p.Gly49Glu)
c.176G>A (p.Gly59Glu)
c.-8G>A (n.-8G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.46613551C>ACA409269753SLC13A3c.286G>T (p.Gly96Trp)
c.145G>T (p.Gly49Trp)
c.175G>T (p.Gly59Trp)
c.-9G>T (n.-9G>T)
 gnomAD v4
20g.46613551C>GCA409269750SLC13A3c.286G>C (p.Gly96Arg)
c.145G>C (p.Gly49Arg)
c.175G>C (p.Gly59Arg)
c.-9G>C (n.-9G>C)
20g.46613551C>TCA409269748SLC13A3c.286G>A (p.Gly96Arg)
c.145G>A (p.Gly49Arg)
c.175G>A (p.Gly59Arg)
c.-9G>A (n.-9G>A)
 gnomAD v4
20g.46613552A>CCA409269756SLC13A3c.285T>G (p.Ser95Arg)
c.144T>G (p.Ser48Arg)
c.174T>G (p.Ser58Arg)
c.-10T>G (n.-10T>G)
20g.46613552A>GCA510772516SLC13A3c.285T>C (p.Ser95=)
c.144T>C (p.Ser48=)
c.174T>C (p.Ser58=)
c.-10T>C (n.-10T>C)
20g.46613552A>TCA409269757SLC13A3c.285T>A (p.Ser95Arg)
c.144T>A (p.Ser48Arg)
c.174T>A (p.Ser58Arg)
c.-10T>A (n.-10T>A)
20g.46613553C>ACA409269758SLC13A3c.284G>T (p.Ser95Ile)
c.143G>T (p.Ser48Ile)
c.173G>T (p.Ser58Ile)
c.-10-1G>T (n.-10-1G>T)
20g.46613553C>GCA409269759SLC13A3c.284G>C (p.Ser95Thr)
c.143G>C (p.Ser48Thr)
c.173G>C (p.Ser58Thr)
c.-10-1G>C (n.-10-1G>C)
20g.46613553C>TCA409269760SLC13A3c.284G>A (p.Ser95Asn)
c.143G>A (p.Ser48Asn)
c.173G>A (p.Ser58Asn)
c.-10-1G>A (n.-10-1G>A)
20g.46613554T>ACA409269761SLC13A3c.283A>T (p.Ser95Cys)
c.142A>T (p.Ser48Cys)
c.172A>T (p.Ser58Cys)
c.-10-2A>T (n.-10-2A>T)
20g.46613554T>CCA9891676SLC13A3c.283A>G (p.Ser95Gly)
c.142A>G (p.Ser48Gly)
c.172A>G (p.Ser58Gly)
c.-10-2A>G (n.-10-2A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.46613554T>GCA409269763SLC13A3c.283A>C (p.Ser95Arg)
c.142A>C (p.Ser48Arg)
c.172A>C (p.Ser58Arg)
c.-10-2A>C (n.-10-2A>C)
20g.46613554T=CA2366747144SLC13A3c.283A= (p.Ser95=)
c.142A= (p.Ser48=)
c.172A= (p.Ser58=)
c.-10-2A= (n.-10-2A=)
20g.46613555G>ACA510772517SLC13A3c.282C>T (p.Leu94=)
c.141C>T (p.Leu47=)
c.171C>T (p.Leu57=)
c.-10-3C>T (n.-10-3C>T)
20g.46613555G>CCA510772518SLC13A3c.282C>G (p.Leu94=)
c.141C>G (p.Leu47=)
c.171C>G (p.Leu57=)
c.-10-3C>G (n.-10-3C>G)
20g.46613555G>TCA510772519SLC13A3c.282C>A (p.Leu94=)
c.141C>A (p.Leu47=)
c.171C>A (p.Leu57=)
c.-10-3C>A (n.-10-3C>A)
20g.46613556A=CA2366747145SLC13A3c.281T= (p.Leu94=)
c.140T= (p.Leu47=)
c.170T= (p.Leu57=)
c.-10-4T= (n.-10-4T=)
20g.46613556A>CCA409269765SLC13A3c.281T>G (p.Leu94Arg)
c.140T>G (p.Leu47Arg)
c.170T>G (p.Leu57Arg)
c.-10-4T>G (n.-10-4T>G)
20g.46613556A>GCA315749309SLC13A3c.281T>C (p.Leu94Pro)
c.140T>C (p.Leu47Pro)
c.170T>C (p.Leu57Pro)
c.-10-4T>C (n.-10-4T>C)
 dbSNP gnomAD v4
20g.46613556A>TCA409269770SLC13A3c.281T>A (p.Leu94His)
c.140T>A (p.Leu47His)
c.170T>A (p.Leu57His)
c.-10-4T>A (n.-10-4T>A)
20g.46613557G>ACA9891677SLC13A3c.280C>T (p.Leu94Phe)
c.139C>T (p.Leu47Phe)
c.169C>T (p.Leu57Phe)
c.-10-5C>T (n.-10-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613557G>CCA409269774SLC13A3c.280C>G (p.Leu94Val)
c.139C>G (p.Leu47Val)
c.169C>G (p.Leu57Val)
c.-10-5C>G (n.-10-5C>G)
20g.46613557G=CA2366747146SLC13A3c.280C= (p.Leu94=)
c.139C= (p.Leu47=)
c.169C= (p.Leu57=)
c.-10-5C= (n.-10-5C=)
20g.46613557G>TCA409269776SLC13A3c.280C>A (p.Leu94Ile)
c.139C>A (p.Leu47Ile)
c.169C>A (p.Leu57Ile)
c.-10-5C>A (n.-10-5C>A)
20g.46613558G>ACA510772520SLC13A3c.279C>T (p.Phe93=)
c.138C>T (p.Phe46=)
c.168C>T (p.Phe56=)
c.-10-6C>T (n.-10-6C>T)
20g.46613558G>CCA409269778SLC13A3c.279C>G (p.Phe93Leu)
c.138C>G (p.Phe46Leu)
c.168C>G (p.Phe56Leu)
c.-10-6C>G (n.-10-6C>G)
20g.46613558G>TCA409269781SLC13A3c.279C>A (p.Phe93Leu)
c.138C>A (p.Phe46Leu)
c.168C>A (p.Phe56Leu)
c.-10-6C>A (n.-10-6C>A)
20g.46613559A>CCA409269782SLC13A3c.278T>G (p.Phe93Cys)
c.137T>G (p.Phe46Cys)
c.167T>G (p.Phe56Cys)
c.-10-7T>G (n.-10-7T>G)
20g.46613559A>GCA409269784SLC13A3c.278T>C (p.Phe93Ser)
c.137T>C (p.Phe46Ser)
c.167T>C (p.Phe56Ser)
c.-10-7T>C (n.-10-7T>C)
20g.46613559A>TCA409269786SLC13A3c.278T>A (p.Phe93Tyr)
c.137T>A (p.Phe46Tyr)
c.167T>A (p.Phe56Tyr)
c.-10-7T>A (n.-10-7T>A)
20g.46613560A=CA2366747147SLC13A3c.277T= (p.Phe93=)
c.136T= (p.Phe46=)
c.166T= (p.Phe56=)
c.-10-8T= (n.-10-8T=)
20g.46613560A>CCA409269787SLC13A3c.277T>G (p.Phe93Val)
c.136T>G (p.Phe46Val)
c.166T>G (p.Phe56Val)
c.-10-8T>G (n.-10-8T>G)
20g.46613560A>GCA409269788SLC13A3c.277T>C (p.Phe93Leu)
c.136T>C (p.Phe46Leu)
c.166T>C (p.Phe56Leu)
c.-10-8T>C (n.-10-8T>C)
 dbSNP
20g.46613560A>TCA409269789SLC13A3c.277T>A (p.Phe93Ile)
c.136T>A (p.Phe46Ile)
c.166T>A (p.Phe56Ile)
c.-10-8T>A (n.-10-8T>A)
 COSMIC COSMIC COSMIC
20g.46613561G>ACA510772523SLC13A3c.276C>T (p.Leu92=)
c.135C>T (p.Leu45=)
c.165C>T (p.Leu55=)
c.-10-9C>T (n.-10-9C>T)
 gnomAD v4
20g.46613561G>CCA510772521SLC13A3c.276C>G (p.Leu92=)
c.135C>G (p.Leu45=)
c.165C>G (p.Leu55=)
c.-10-9C>G (n.-10-9C>G)
20g.46613561G>TCA510772522SLC13A3c.276C>A (p.Leu92=)
c.135C>A (p.Leu45=)
c.165C>A (p.Leu55=)
c.-10-9C>A (n.-10-9C>A)
20g.46613562A>CCA409269790SLC13A3c.275T>G (p.Leu92Arg)
c.134T>G (p.Leu45Arg)
c.164T>G (p.Leu55Arg)
c.-10-10T>G (n.-10-10T>G)
20g.46613562A>GCA409269793SLC13A3c.275T>C (p.Leu92Pro)
c.134T>C (p.Leu45Pro)
c.164T>C (p.Leu55Pro)
c.-10-10T>C (n.-10-10T>C)
20g.46613562A>TCA409269798SLC13A3c.275T>A (p.Leu92His)
c.134T>A (p.Leu45His)
c.164T>A (p.Leu55His)
c.-10-10T>A (n.-10-10T>A)
20g.46613563G>ACA409269800SLC13A3c.274C>T (p.Leu92Phe)
c.133C>T (p.Leu45Phe)
c.163C>T (p.Leu55Phe)
c.-10-11C>T (n.-10-11C>T)
20g.46613563G>CCA409269801SLC13A3c.274C>G (p.Leu92Val)
c.133C>G (p.Leu45Val)
c.163C>G (p.Leu55Val)
c.-10-11C>G (n.-10-11C>G)
20g.46613563G>TCA409269804SLC13A3c.274C>A (p.Leu92Ile)
c.133C>A (p.Leu45Ile)
c.163C>A (p.Leu55Ile)
c.-10-11C>A (n.-10-11C>A)
20g.46613564G>ACA510772524SLC13A3c.273C>T (p.Phe91=)
c.132C>T (p.Phe44=)
c.162C>T (p.Phe54=)
c.-10-12C>T (n.-10-12C>T)
20g.46613564G>CCA409269813SLC13A3c.273C>G (p.Phe91Leu)
c.132C>G (p.Phe44Leu)
c.162C>G (p.Phe54Leu)
c.-10-12C>G (n.-10-12C>G)
20g.46613564G>TCA409269810SLC13A3c.273C>A (p.Phe91Leu)
c.132C>A (p.Phe44Leu)
c.162C>A (p.Phe54Leu)
c.-10-12C>A (n.-10-12C>A)
20g.46613565A=CA2366747148SLC13A3c.272T= (p.Phe91=)
c.131T= (p.Phe44=)
c.161T= (p.Phe54=)
c.-10-13T= (n.-10-13T=)
20g.46613565A>CCA409269814SLC13A3c.272T>G (p.Phe91Cys)
c.131T>G (p.Phe44Cys)
c.161T>G (p.Phe54Cys)
c.-10-13T>G (n.-10-13T>G)
20g.46613565A>GCA409269816SLC13A3c.272T>C (p.Phe91Ser)
c.131T>C (p.Phe44Ser)
c.161T>C (p.Phe54Ser)
c.-10-13T>C (n.-10-13T>C)
20g.46613565A>TCA409269815SLC13A3c.272T>A (p.Phe91Tyr)
c.131T>A (p.Phe44Tyr)
c.161T>A (p.Phe54Tyr)
c.-10-13T>A (n.-10-13T>A)
 dbSNP
20g.46613566A>CCA409269817SLC13A3c.271T>G (p.Phe91Val)
c.130T>G (p.Phe44Val)
c.160T>G (p.Phe54Val)
c.-10-14T>G (n.-10-14T>G)
20g.46613566A>GCA409269819SLC13A3c.271T>C (p.Phe91Leu)
c.130T>C (p.Phe44Leu)
c.160T>C (p.Phe54Leu)
c.-10-14T>C (n.-10-14T>C)
 gnomAD v4
20g.46613566A>TCA409269818SLC13A3c.271T>A (p.Phe91Ile)
c.130T>A (p.Phe44Ile)
c.160T>A (p.Phe54Ile)
c.-10-14T>A (n.-10-14T>A)
20g.46613567G>ACA510772525SLC13A3c.270C>T (p.Asn90=)
c.129C>T (p.Asn43=)
c.159C>T (p.Asn53=)
c.-10-15C>T (n.-10-15C>T)
20g.46613567G>CCA409269820SLC13A3c.270C>G (p.Asn90Lys)
c.129C>G (p.Asn43Lys)
c.159C>G (p.Asn53Lys)
c.-10-15C>G (n.-10-15C>G)
20g.46613567G>TCA409269821SLC13A3c.270C>A (p.Asn90Lys)
c.129C>A (p.Asn43Lys)
c.159C>A (p.Asn53Lys)
c.-10-15C>A (n.-10-15C>A)
20g.46613568T>ACA409269822SLC13A3c.269A>T (p.Asn90Ile)
c.128A>T (p.Asn43Ile)
c.158A>T (p.Asn53Ile)
c.-10-16A>T (n.-10-16A>T)
20g.46613568T>CCA409269823SLC13A3c.269A>G (p.Asn90Ser)
c.128A>G (p.Asn43Ser)
c.158A>G (p.Asn53Ser)
c.-10-16A>G (n.-10-16A>G)
 dbSNP
20g.46613568T>GCA409269824SLC13A3c.269A>C (p.Asn90Thr)
c.128A>C (p.Asn43Thr)
c.158A>C (p.Asn53Thr)
c.-10-16A>C (n.-10-16A>C)
20g.46613568T=CA2366747149SLC13A3c.269A= (p.Asn90=)
c.128A= (p.Asn43=)
c.158A= (p.Asn53=)
c.-10-16A= (n.-10-16A=)
20g.46613569T>ACA409269825SLC13A3c.268A>T (p.Asn90Tyr)
c.127A>T (p.Asn43Tyr)
c.157A>T (p.Asn53Tyr)
c.-10-17A>T (n.-10-17A>T)
20g.46613569T>CCA409269826SLC13A3c.268A>G (p.Asn90Asp)
c.127A>G (p.Asn43Asp)
c.157A>G (p.Asn53Asp)
c.-10-17A>G (n.-10-17A>G)
20g.46613569T>GCA409269828SLC13A3c.268A>C (p.Asn90His)
c.127A>C (p.Asn43His)
c.157A>C (p.Asn53His)
c.-10-17A>C (n.-10-17A>C)
20g.46613570G>ACA9891678SLC13A3c.267C>T (p.Thr89=)
c.126C>T (p.Thr42=)
c.156C>T (p.Thr52=)
c.-10-18C>T (n.-10-18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613570G>CCA510772529SLC13A3c.267C>G (p.Thr89=)
c.126C>G (p.Thr42=)
c.156C>G (p.Thr52=)
c.-10-18C>G (n.-10-18C>G)
20g.46613570G=CA2366747150SLC13A3c.267C= (p.Thr89=)
c.126C= (p.Thr42=)
c.156C= (p.Thr52=)
c.-10-18C= (n.-10-18C=)
20g.46613570G>TCA510772530SLC13A3c.267C>A (p.Thr89=)
c.126C>A (p.Thr42=)
c.156C>A (p.Thr52=)
c.-10-18C>A (n.-10-18C>A)
20g.46613571G>ACA315749317SLC13A3c.266C>T (p.Thr89Ile)
c.125C>T (p.Thr42Ile)
c.155C>T (p.Thr52Ile)
c.-10-19C>T (n.-10-19C>T)
 dbSNP
20g.46613571G>CCA409269835SLC13A3c.266C>G (p.Thr89Ser)
c.125C>G (p.Thr42Ser)
c.155C>G (p.Thr52Ser)
c.-10-19C>G (n.-10-19C>G)
20g.46613571G=CA2366747151SLC13A3c.266C= (p.Thr89=)
c.125C= (p.Thr42=)
c.155C= (p.Thr52=)
c.-10-19C= (n.-10-19C=)
20g.46613571G>TCA409269838SLC13A3c.266C>A (p.Thr89Asn)
c.125C>A (p.Thr42Asn)
c.155C>A (p.Thr52Asn)
c.-10-19C>A (n.-10-19C>A)
20g.46613572T>ACA409269845SLC13A3c.265A>T (p.Thr89Ser)
c.124A>T (p.Thr42Ser)
c.154A>T (p.Thr52Ser)
c.-10-20A>T (n.-10-20A>T)
20g.46613572T>CCA409269850SLC13A3c.265A>G (p.Thr89Ala)
c.124A>G (p.Thr42Ala)
c.154A>G (p.Thr52Ala)
c.-10-20A>G (n.-10-20A>G)
20g.46613572T>GCA409269847SLC13A3c.265A>C (p.Thr89Pro)
c.124A>C (p.Thr42Pro)
c.154A>C (p.Thr52Pro)
c.-10-20A>C (n.-10-20A>C)
20g.46613573G>ACA510772531SLC13A3c.264C>T (p.Asp88=)
c.123C>T (p.Asp41=)
c.153C>T (p.Asp51=)
c.-10-21C>T (n.-10-21C>T)
20g.46613573G>CCA409269854SLC13A3c.264C>G (p.Asp88Glu)
c.123C>G (p.Asp41Glu)
c.153C>G (p.Asp51Glu)
c.-10-21C>G (n.-10-21C>G)
20g.46613573G>TCA409269855SLC13A3c.264C>A (p.Asp88Glu)
c.123C>A (p.Asp41Glu)
c.153C>A (p.Asp51Glu)
c.-10-21C>A (n.-10-21C>A)
20g.46613574T>ACA409269857SLC13A3c.263A>T (p.Asp88Val)
c.122A>T (p.Asp41Val)
c.152A>T (p.Asp51Val)
c.-10-22A>T (n.-10-22A>T)
20g.46613574T>CCA409269859SLC13A3c.263A>G (p.Asp88Gly)
c.122A>G (p.Asp41Gly)
c.152A>G (p.Asp51Gly)
c.-10-22A>G (n.-10-22A>G)
20g.46613574T>GCA409269863SLC13A3c.263A>C (p.Asp88Ala)
c.122A>C (p.Asp41Ala)
c.152A>C (p.Asp51Ala)
c.-10-22A>C (n.-10-22A>C)
20g.46613575C>ACA409269865SLC13A3c.262G>T (p.Asp88Tyr)
c.121G>T (p.Asp41Tyr)
c.151G>T (p.Asp51Tyr)
c.-10-23G>T (n.-10-23G>T)
20g.46613575C=CA2366747152SLC13A3c.262G= (p.Asp88=)
c.121G= (p.Asp41=)
c.151G= (p.Asp51=)
c.-10-23G= (n.-10-23G=)
20g.46613575C>GCA409269868SLC13A3c.262G>C (p.Asp88His)
c.121G>C (p.Asp41His)
c.151G>C (p.Asp51His)
c.-10-23G>C (n.-10-23G>C)
 gnomAD v4
20g.46613575C>TCA9891679SLC13A3c.262G>A (p.Asp88Asn)
c.121G>A (p.Asp41Asn)
c.151G>A (p.Asp51Asn)
c.-10-23G>A (n.-10-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613576G>ACA9891680SLC13A3c.261C>T (p.Leu87=)
c.120C>T (p.Leu40=)
c.150C>T (p.Leu50=)
c.-10-24C>T (n.-10-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.46613576G>CCA510772532SLC13A3c.261C>G (p.Leu87=)
c.120C>G (p.Leu40=)
c.150C>G (p.Leu50=)
c.-10-24C>G (n.-10-24C>G)
20g.46613576G=CA2366747153SLC13A3c.261C= (p.Leu87=)
c.120C= (p.Leu40=)
c.150C= (p.Leu50=)
c.-10-24C= (n.-10-24C=)
20g.46613576G>TCA510772533SLC13A3c.261C>A (p.Leu87=)
c.120C>A (p.Leu40=)
c.150C>A (p.Leu50=)
c.-10-24C>A (n.-10-24C>A)
20g.46613577A>CCA409269876SLC13A3c.260T>G (p.Leu87Arg)
c.119T>G (p.Leu40Arg)
c.149T>G (p.Leu50Arg)
c.-10-25T>G (n.-10-25T>G)
20g.46613577A>GCA409269875SLC13A3c.260T>C (p.Leu87Pro)
c.119T>C (p.Leu40Pro)
c.149T>C (p.Leu50Pro)
c.-10-25T>C (n.-10-25T>C)
20g.46613577A>TCA409269873SLC13A3c.260T>A (p.Leu87His)
c.119T>A (p.Leu40His)
c.149T>A (p.Leu50His)
c.-10-25T>A (n.-10-25T>A)
20g.46613578G>ACA409269877SLC13A3c.259C>T (p.Leu87Phe)
c.118C>T (p.Leu40Phe)
c.148C>T (p.Leu50Phe)
c.-10-26C>T (n.-10-26C>T)
20g.46613578G>CCA409269878SLC13A3c.259C>G (p.Leu87Val)
c.118C>G (p.Leu40Val)
c.148C>G (p.Leu50Val)
c.-10-26C>G (n.-10-26C>G)
20g.46613578G>TCA409269879SLC13A3c.259C>A (p.Leu87Ile)
c.118C>A (p.Leu40Ile)
c.148C>A (p.Leu50Ile)
c.-10-26C>A (n.-10-26C>A)
20g.46613579G>ACA510772534SLC13A3c.258C>T (p.Phe86=)
c.117C>T (p.Phe39=)
c.147C>T (p.Phe49=)
c.-10-27C>T (n.-10-27C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.46613579G>CCA409269881SLC13A3c.258C>G (p.Phe86Leu)
c.117C>G (p.Phe39Leu)
c.147C>G (p.Phe49Leu)
c.-10-27C>G (n.-10-27C>G)
20g.46613579G=CA2366747154SLC13A3c.258C= (p.Phe86=)
c.117C= (p.Phe39=)
c.147C= (p.Phe49=)
c.-10-27C= (n.-10-27C=)
20g.46613579G>TCA409269883SLC13A3c.258C>A (p.Phe86Leu)
c.117C>A (p.Phe39Leu)
c.147C>A (p.Phe49Leu)
c.-10-27C>A (n.-10-27C>A)
 gnomAD v4
20g.46613580A>CCA409269885SLC13A3c.257T>G (p.Phe86Cys)
c.116T>G (p.Phe39Cys)
c.146T>G (p.Phe49Cys)
c.-10-28T>G (n.-10-28T>G)
20g.46613580A>GCA409269888SLC13A3c.257T>C (p.Phe86Ser)
c.116T>C (p.Phe39Ser)
c.146T>C (p.Phe49Ser)
c.-10-28T>C (n.-10-28T>C)
20g.46613580A>TCA409269890SLC13A3c.257T>A (p.Phe86Tyr)
c.116T>A (p.Phe39Tyr)
c.146T>A (p.Phe49Tyr)
c.-10-28T>A (n.-10-28T>A)
20g.46613581A>CCA409269892SLC13A3c.256T>G (p.Phe86Val)
c.115T>G (p.Phe39Val)
c.145T>G (p.Phe49Val)
c.-10-29T>G (n.-10-29T>G)
20g.46613581A>GCA409269894SLC13A3c.256T>C (p.Phe86Leu)
c.115T>C (p.Phe39Leu)
c.145T>C (p.Phe49Leu)
c.-10-29T>C (n.-10-29T>C)
20g.46613581A>TCA409269895SLC13A3c.256T>A (p.Phe86Ile)
c.115T>A (p.Phe39Ile)
c.145T>A (p.Phe49Ile)
c.-10-29T>A (n.-10-29T>A)
20g.46613582G>ACA315749324SLC13A3c.255C>T (p.Tyr85=)
c.114C>T (p.Tyr38=)
c.144C>T (p.Tyr48=)
c.-10-30C>T (n.-10-30C>T)
 dbSNP
20g.46613582G>CCA409269898SLC13A3c.255C>G (p.Tyr85Ter)
c.114C>G (p.Tyr38Ter)
c.144C>G (p.Tyr48Ter)
c.-10-30C>G (n.-10-30C>G)
20g.46613582G=CA2366747155SLC13A3c.255C= (p.Tyr85=)
c.114C= (p.Tyr38=)
c.144C= (p.Tyr48=)
c.-10-30C= (n.-10-30C=)
20g.46613582G>TCA409269907SLC13A3c.255C>A (p.Tyr85Ter)
c.114C>A (p.Tyr38Ter)
c.144C>A (p.Tyr48Ter)
c.-10-30C>A (n.-10-30C>A)
20g.46613583T>ACA409269910SLC13A3c.254A>T (p.Tyr85Phe)
c.113A>T (p.Tyr38Phe)
c.143A>T (p.Tyr48Phe)
c.-10-31A>T (n.-10-31A>T)
20g.46613583T>CCA409269914SLC13A3c.254A>G (p.Tyr85Cys)
c.113A>G (p.Tyr38Cys)
c.143A>G (p.Tyr48Cys)
c.-10-31A>G (n.-10-31A>G)
20g.46613583T>GCA409269913SLC13A3c.254A>C (p.Tyr85Ser)
c.113A>C (p.Tyr38Ser)
c.143A>C (p.Tyr48Ser)
c.-10-31A>C (n.-10-31A>C)
20g.46613584A>CCA409269917SLC13A3c.253T>G (p.Tyr85Asp)
c.112T>G (p.Tyr38Asp)
c.142T>G (p.Tyr48Asp)
c.-10-32T>G (n.-10-32T>G)
20g.46613584A>GCA409269919SLC13A3c.253T>C (p.Tyr85His)
c.112T>C (p.Tyr38His)
c.142T>C (p.Tyr48His)
c.-10-32T>C (n.-10-32T>C)
20g.46613584A>TCA409269922SLC13A3c.253T>A (p.Tyr85Asn)
c.112T>A (p.Tyr38Asn)
c.142T>A (p.Tyr48Asn)
c.-10-32T>A (n.-10-32T>A)
20g.46613585C>ACA409269923SLC13A3c.252G>T (p.Gln84His)
c.111G>T (p.Gln37His)
c.141G>T (p.Gln47His)
c.-10-33G>T (n.-10-33G>T)
20g.46613585C=CA2366747156SLC13A3c.252G= (p.Gln84=)
c.111G= (p.Gln37=)
c.141G= (p.Gln47=)
c.-10-33G= (n.-10-33G=)
20g.46613585C>GCA409269926SLC13A3c.252G>C (p.Gln84His)
c.111G>C (p.Gln37His)
c.141G>C (p.Gln47His)
c.-10-33G>C (n.-10-33G>C)
20g.46613585C>TCA315749325SLC13A3c.252G>A (p.Gln84=)
c.111G>A (p.Gln37=)
c.141G>A (p.Gln47=)
c.-10-33G>A (n.-10-33G>A)
 dbSNP gnomAD v4
20g.46613586T>ACA409269929SLC13A3c.251A>T (p.Gln84Leu)
c.110A>T (p.Gln37Leu)
c.140A>T (p.Gln47Leu)
c.-10-34A>T (n.-10-34A>T)
20g.46613586T>CCA409269934SLC13A3c.251A>G (p.Gln84Arg)
c.110A>G (p.Gln37Arg)
c.140A>G (p.Gln47Arg)
c.-10-34A>G (n.-10-34A>G)
20g.46613586T>GCA409269935SLC13A3c.251A>C (p.Gln84Pro)
c.110A>C (p.Gln37Pro)
c.140A>C (p.Gln47Pro)
c.-10-34A>C (n.-10-34A>C)
20g.46613587G>ACA409269937SLC13A3c.250C>T (p.Gln84Ter)
c.109C>T (p.Gln37Ter)
c.139C>T (p.Gln47Ter)
c.-10-35C>T (n.-10-35C>T)
20g.46613587G>CCA409269940SLC13A3c.250C>G (p.Gln84Glu)
c.109C>G (p.Gln37Glu)
c.139C>G (p.Gln47Glu)
c.-10-35C>G (n.-10-35C>G)
20g.46613587G>TCA409269943SLC13A3c.250C>A (p.Gln84Lys)
c.109C>A (p.Gln37Lys)
c.139C>A (p.Gln47Lys)
c.-10-35C>A (n.-10-35C>A)
 COSMIC COSMIC COSMIC
20g.46613588G>ACA510772535SLC13A3c.249C>T (p.Pro83=)
c.108C>T (p.Pro36=)
c.138C>T (p.Pro46=)
c.-10-36C>T (n.-10-36C>T)
 gnomAD v4
20g.46613588G>CCA510772536SLC13A3c.249C>G (p.Pro83=)
c.108C>G (p.Pro36=)
c.138C>G (p.Pro46=)
c.-10-36C>G (n.-10-36C>G)
20g.46613588G>TCA510772537SLC13A3c.249C>A (p.Pro83=)
c.108C>A (p.Pro36=)
c.138C>A (p.Pro46=)
c.-10-36C>A (n.-10-36C>A)
20g.46613589G>ACA409269950SLC13A3c.248C>T (p.Pro83Leu)
c.107C>T (p.Pro36Leu)
c.137C>T (p.Pro46Leu)
c.-10-37C>T (n.-10-37C>T)
 ClinVar
20g.46613589G>CCA409269951SLC13A3c.248C>G (p.Pro83Arg)
c.107C>G (p.Pro36Arg)
c.137C>G (p.Pro46Arg)
c.-10-37C>G (n.-10-37C>G)
20g.46613589G>TCA409269946SLC13A3c.248C>A (p.Pro83His)
c.107C>A (p.Pro36His)
c.137C>A (p.Pro46His)
c.-10-37C>A (n.-10-37C>A)
20g.46613590G>ACA409269954SLC13A3c.247C>T (p.Pro83Ser)
c.106C>T (p.Pro36Ser)
c.136C>T (p.Pro46Ser)
c.-10-38C>T (n.-10-38C>T)
20g.46613590G>CCA409269955SLC13A3c.247C>G (p.Pro83Ala)
c.106C>G (p.Pro36Ala)
c.136C>G (p.Pro46Ala)
c.-10-38C>G (n.-10-38C>G)
20g.46613590G>TCA409269956SLC13A3c.247C>A (p.Pro83Thr)
c.106C>A (p.Pro36Thr)
c.136C>A (p.Pro46Thr)
c.-10-38C>A (n.-10-38C>A)
20g.46613591G>ACA510772538SLC13A3c.246C>T (p.Cys82=)
c.105C>T (p.Cys35=)
c.135C>T (p.Cys45=)
c.-10-39C>T (n.-10-39C>T)
 gnomAD v4
20g.46613591G>CCA409269957SLC13A3c.246C>G (p.Cys82Trp)
c.105C>G (p.Cys35Trp)
c.135C>G (p.Cys45Trp)
c.-10-39C>G (n.-10-39C>G)
20g.46613591G>TCA409269959SLC13A3c.246C>A (p.Cys82Ter)
c.105C>A (p.Cys35Ter)
c.135C>A (p.Cys45Ter)
c.-10-39C>A (n.-10-39C>A)
20g.46613592C>ACA409269962SLC13A3c.245G>T (p.Cys82Phe)
c.104G>T (p.Cys35Phe)
c.134G>T (p.Cys45Phe)
c.-10-40G>T (n.-10-40G>T)
20g.46613592C>GCA409269961SLC13A3c.245G>C (p.Cys82Ser)
c.104G>C (p.Cys35Ser)
c.134G>C (p.Cys45Ser)
c.-10-40G>C (n.-10-40G>C)
20g.46613592C>TCA409269960SLC13A3c.245G>A (p.Cys82Tyr)
c.104G>A (p.Cys35Tyr)
c.134G>A (p.Cys45Tyr)
c.-10-40G>A (n.-10-40G>A)
20g.46613593A>CCA409269963SLC13A3c.244T>G (p.Cys82Gly)
c.103T>G (p.Cys35Gly)
c.133T>G (p.Cys45Gly)
c.-10-41T>G (n.-10-41T>G)
20g.46613593A>GCA409269964SLC13A3c.244T>C (p.Cys82Arg)
c.103T>C (p.Cys35Arg)
c.133T>C (p.Cys45Arg)
c.-10-41T>C (n.-10-41T>C)
20g.46613593A>TCA409269966SLC13A3c.244T>A (p.Cys82Ser)
c.103T>A (p.Cys35Ser)
c.133T>A (p.Cys45Ser)
c.-10-41T>A (n.-10-41T>A)
20g.46613594G>ACA510772539SLC13A3c.243C>T (p.Val81=)
c.102C>T (p.Val34=)
c.132C>T (p.Val44=)
c.-10-42C>T (n.-10-42C>T)
20g.46613594G>CCA510772540SLC13A3c.243C>G (p.Val81=)
c.102C>G (p.Val34=)
c.132C>G (p.Val44=)
c.-10-42C>G (n.-10-42C>G)
 dbSNP gnomAD v2 gnomAD v4
20g.46613594G=CA2366747157SLC13A3c.243C= (p.Val81=)
c.102C= (p.Val34=)
c.132C= (p.Val44=)
c.-10-42C= (n.-10-42C=)
20g.46613594G>TCA510772541SLC13A3c.243C>A (p.Val81=)
c.102C>A (p.Val34=)
c.132C>A (p.Val44=)
c.-10-42C>A (n.-10-42C>A)
20g.46613595A=CA2366747158SLC13A3c.242T= (p.Val81=)
c.101T= (p.Val34=)
c.131T= (p.Val44=)
c.-10-43T= (n.-10-43T=)
20g.46613595A>CCA409269970SLC13A3c.242T>G (p.Val81Gly)
c.101T>G (p.Val34Gly)
c.131T>G (p.Val44Gly)
c.-10-43T>G (n.-10-43T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.46613595A>GCA409269972SLC13A3c.242T>C (p.Val81Ala)
c.101T>C (p.Val34Ala)
c.131T>C (p.Val44Ala)
c.-10-43T>C (n.-10-43T>C)
20g.46613595A>TCA409269976SLC13A3c.242T>A (p.Val81Asp)
c.101T>A (p.Val34Asp)
c.131T>A (p.Val44Asp)
c.-10-43T>A (n.-10-43T>A)
20g.46613596C>ACA409269983SLC13A3c.241G>T (p.Val81Phe)
c.100G>T (p.Val34Phe)
c.130G>T (p.Val44Phe)
c.-10-44G>T (n.-10-44G>T)
20g.46613596C=CA2366747159SLC13A3c.241G= (p.Val81=)
c.100G= (p.Val34=)
c.130G= (p.Val44=)
c.-10-44G= (n.-10-44G=)
20g.46613596C>GCA9891681SLC13A3c.241G>C (p.Val81Leu)
c.100G>C (p.Val34Leu)
c.130G>C (p.Val44Leu)
c.-10-44G>C (n.-10-44G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.46613596C>TCA409269981SLC13A3c.241G>A (p.Val81Ile)
c.100G>A (p.Val34Ile)
c.130G>A (p.Val44Ile)
c.-10-44G>A (n.-10-44G>A)
 gnomAD v4
20g.46613597C>ACA409269984SLC13A3c.240G>T (p.Lys80Asn)
c.99G>T (p.Lys33Asn)
c.129G>T (p.Lys43Asn)
c.-10-45G>T (n.-10-45G>T)
20g.46613597C=CA2366747160SLC13A3c.240G= (p.Lys80=)
c.99G= (p.Lys33=)
c.129G= (p.Lys43=)
c.-10-45G= (n.-10-45G=)
20g.46613597C>GCA409269985SLC13A3c.240G>C (p.Lys80Asn)
c.99G>C (p.Lys33Asn)
c.129G>C (p.Lys43Asn)
c.-10-45G>C (n.-10-45G>C)
20g.46613597C>TCA510772542SLC13A3c.240G>A (p.Lys80=)
c.99G>A (p.Lys33=)
c.129G>A (p.Lys43=)
c.-10-45G>A (n.-10-45G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.46613598T>ACA409269987SLC13A3c.239A>T (p.Lys80Met)
c.98A>T (p.Lys33Met)
c.128A>T (p.Lys43Met)
c.-10-46A>T (n.-10-46A>T)
20g.46613598T>CCA409270005SLC13A3c.239A>G (p.Lys80Arg)
c.98A>G (p.Lys33Arg)
c.128A>G (p.Lys43Arg)
c.-10-46A>G (n.-10-46A>G)
20g.46613598T>GCA409270006SLC13A3c.239A>C (p.Lys80Thr)
c.98A>C (p.Lys33Thr)
c.128A>C (p.Lys43Thr)
c.-10-46A>C (n.-10-46A>C)
20g.46613599T>ACA409270008SLC13A3c.238A>T (p.Lys80Ter)
c.97A>T (p.Lys33Ter)
c.127A>T (p.Lys43Ter)
c.-10-47A>T (n.-10-47A>T)
20g.46613599T>CCA409270009SLC13A3c.238A>G (p.Lys80Glu)
c.97A>G (p.Lys33Glu)
c.127A>G (p.Lys43Glu)
c.-10-47A>G (n.-10-47A>G)
20g.46613599T>GCA409270011SLC13A3c.238A>C (p.Lys80Gln)
c.97A>C (p.Lys33Gln)
c.127A>C (p.Lys43Gln)
c.-10-47A>C (n.-10-47A>C)
20g.46613600G>ACA510772543SLC13A3c.237C>T (p.Asn79=)
c.96C>T (p.Asn32=)
c.126C>T (p.Asn42=)
c.-10-48C>T (n.-10-48C>T)
20g.46613600G>CCA409270013SLC13A3c.237C>G (p.Asn79Lys)
c.96C>G (p.Asn32Lys)
c.126C>G (p.Asn42Lys)
c.-10-48C>G (n.-10-48C>G)
 gnomAD v4
20g.46613600G=CA2366747161SLC13A3c.237C= (p.Asn79=)
c.96C= (p.Asn32=)
c.126C= (p.Asn42=)
c.-10-48C= (n.-10-48C=)
20g.46613600G>TCA315749328SLC13A3c.237C>A (p.Asn79Lys)
c.96C>A (p.Asn32Lys)
c.126C>A (p.Asn42Lys)
c.-10-48C>A (n.-10-48C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.46613601T>ACA409270022SLC13A3c.236A>T (p.Asn79Ile)
c.95A>T (p.Asn32Ile)
c.125A>T (p.Asn42Ile)
c.-10-49A>T (n.-10-49A>T)
20g.46613601T>CCA315749332SLC13A3c.236A>G (p.Asn79Ser)
c.95A>G (p.Asn32Ser)
c.125A>G (p.Asn42Ser)
c.-10-49A>G (n.-10-49A>G)
 ClinVar dbSNP gnomAD v4
20g.46613601T>GCA409270026SLC13A3c.236A>C (p.Asn79Thr)
c.95A>C (p.Asn32Thr)
c.125A>C (p.Asn42Thr)
c.-10-49A>C (n.-10-49A>C)
20g.46613601T=CA2366747162SLC13A3c.236A= (p.Asn79=)
c.95A= (p.Asn32=)
c.125A= (p.Asn42=)
c.-10-49A= (n.-10-49A=)
20g.46613602T>ACA409270027SLC13A3c.235A>T (p.Asn79Tyr)
c.94A>T (p.Asn32Tyr)
c.124A>T (p.Asn42Tyr)
c.-10-50A>T (n.-10-50A>T)
20g.46613602T>CCA409270029SLC13A3c.235A>G (p.Asn79Asp)
c.94A>G (p.Asn32Asp)
c.124A>G (p.Asn42Asp)
c.-10-50A>G (n.-10-50A>G)
20g.46613602T>GCA9891682SLC13A3c.235A>C (p.Asn79His)
c.94A>C (p.Asn32His)
c.124A>C (p.Asn42His)
c.-10-50A>C (n.-10-50A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613602T=CA2366747163SLC13A3c.235A= (p.Asn79=)
c.94A= (p.Asn32=)
c.124A= (p.Asn42=)
c.-10-50A= (n.-10-50A=)
20g.46613603G>ACA9891683SLC13A3c.234C>T (p.Ser78=)
c.93C>T (p.Ser31=)
c.123C>T (p.Ser41=)
c.-10-51C>T (n.-10-51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.46613603G>CCA510772544SLC13A3c.234C>G (p.Ser78=)
c.93C>G (p.Ser31=)
c.123C>G (p.Ser41=)
c.-10-51C>G (n.-10-51C>G)
20g.46613603G=CA2366747164SLC13A3c.234C= (p.Ser78=)
c.93C= (p.Ser31=)
c.123C= (p.Ser41=)
c.-10-51C= (n.-10-51C=)
20g.46613603G>TCA510772545SLC13A3c.234C>A (p.Ser78=)
c.93C>A (p.Ser31=)
c.123C>A (p.Ser41=)
c.-10-51C>A (n.-10-51C>A)
20g.46613604G>ACA409270032SLC13A3c.233C>T (p.Ser78Phe)
c.92C>T (p.Ser31Phe)
c.122C>T (p.Ser41Phe)
c.-10-52C>T (n.-10-52C>T)
20g.46613604G>CCA409270033SLC13A3c.233C>G (p.Ser78Cys)
c.92C>G (p.Ser31Cys)
c.122C>G (p.Ser41Cys)
c.-10-52C>G (n.-10-52C>G)
20g.46613604G>TCA409270037SLC13A3c.233C>A (p.Ser78Tyr)
c.92C>A (p.Ser31Tyr)
c.122C>A (p.Ser41Tyr)
c.-10-52C>A (n.-10-52C>A)
20g.46613605A>CCA409270040SLC13A3c.232T>G (p.Ser78Ala)
c.91T>G (p.Ser31Ala)
c.121T>G (p.Ser41Ala)
c.-10-53T>G (n.-10-53T>G)
20g.46613605A>GCA409270047SLC13A3c.232T>C (p.Ser78Pro)
c.91T>C (p.Ser31Pro)
c.121T>C (p.Ser41Pro)
c.-10-53T>C (n.-10-53T>C)
20g.46613605A>TCA409270049SLC13A3c.232T>A (p.Ser78Thr)
c.91T>A (p.Ser31Thr)
c.121T>A (p.Ser41Thr)
c.-10-53T>A (n.-10-53T>A)
20g.46613606G>ACA315749369SLC13A3c.231C>T (p.Pro77=)
c.90C>T (p.Pro30=)
c.120C>T (p.Pro40=)
c.-10-54C>T (n.-10-54C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46613606G>CCA510772546SLC13A3c.231C>G (p.Pro77=)
c.90C>G (p.Pro30=)
c.120C>G (p.Pro40=)
c.-10-54C>G (n.-10-54C>G)
20g.46613606G=CA2366747165SLC13A3c.231C= (p.Pro77=)
c.90C= (p.Pro30=)
c.120C= (p.Pro40=)
c.-10-54C= (n.-10-54C=)
20g.46613606G>TCA510772547SLC13A3c.231C>A (p.Pro77=)
c.90C>A (p.Pro30=)
c.120C>A (p.Pro40=)
c.-10-54C>A (n.-10-54C>A)
20g.46613607G>ACA9891684SLC13A3c.230C>T (p.Pro77Leu)
c.89C>T (p.Pro30Leu)
c.119C>T (p.Pro40Leu)
c.-10-55C>T (n.-10-55C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613607G>CCA409270057SLC13A3c.230C>G (p.Pro77Arg)
c.89C>G (p.Pro30Arg)
c.119C>G (p.Pro40Arg)
c.-10-55C>G (n.-10-55C>G)
20g.46613607G=CA2366747166SLC13A3c.230C= (p.Pro77=)
c.89C= (p.Pro30=)
c.119C= (p.Pro40=)
c.-10-55C= (n.-10-55C=)
20g.46613607G>TCA409270060SLC13A3c.230C>A (p.Pro77His)
c.89C>A (p.Pro30His)
c.119C>A (p.Pro40His)
c.-10-55C>A (n.-10-55C>A)
20g.46613608G>ACA409270064SLC13A3c.229C>T (p.Pro77Ser)
c.88C>T (p.Pro30Ser)
c.118C>T (p.Pro40Ser)
c.-10-56C>T (n.-10-56C>T)
20g.46613608G>CCA409270065SLC13A3c.229C>G (p.Pro77Ala)
c.88C>G (p.Pro30Ala)
c.118C>G (p.Pro40Ala)
c.-10-56C>G (n.-10-56C>G)
20g.46613608G>TCA409270066SLC13A3c.229C>A (p.Pro77Thr)
c.88C>A (p.Pro30Thr)
c.118C>A (p.Pro40Thr)
c.-10-56C>A (n.-10-56C>A)
20g.46613609C>ACA409270072SLC13A3c.228G>T (p.Leu76Phe)
c.87G>T (p.Leu29Phe)
c.117G>T (p.Leu39Phe)
c.-10-57G>T (n.-10-57G>T)
20g.46613609C>GCA409270069SLC13A3c.228G>C (p.Leu76Phe)
c.87G>C (p.Leu29Phe)
c.117G>C (p.Leu39Phe)
c.-10-57G>C (n.-10-57G>C)
20g.46613609C>TCA510772548SLC13A3c.228G>A (p.Leu76=)
c.87G>A (p.Leu29=)
c.117G>A (p.Leu39=)
c.-10-57G>A (n.-10-57G>A)
20g.46613609_46613610delCA2816529194SLC13A3c.227_228del (p.Leu76SerfsTer28)
c.86_87del (p.Leu29SerfsTer28)
c.116_117del (p.Leu39SerfsTer28)
c.-10-58_-10-57del (n.-10-58_-10-57del)
20g.46613610A=CA2366747167SLC13A3c.227T= (p.Leu76=)
c.86T= (p.Leu29=)
c.116T= (p.Leu39=)
c.-10-58T= (n.-10-58T=)
20g.46613610A>CCA409270074SLC13A3c.227T>G (p.Leu76Trp)
c.86T>G (p.Leu29Trp)
c.116T>G (p.Leu39Trp)
c.-10-58T>G (n.-10-58T>G)
20g.46613610A>GCA409270076SLC13A3c.227T>C (p.Leu76Ser)
c.86T>C (p.Leu29Ser)
c.116T>C (p.Leu39Ser)
c.-10-58T>C (n.-10-58T>C)
20g.46613610A>TCA409270079SLC13A3c.227T>A (p.Leu76Ter)
c.86T>A (p.Leu29Ter)
c.116T>A (p.Leu39Ter)
c.-10-58T>A (n.-10-58T>A)
 dbSNP gnomAD v4
20g.46613611A>CCA409270084SLC13A3c.226T>G (p.Leu76Val)
c.85T>G (p.Leu29Val)
c.115T>G (p.Leu39Val)
c.-10-59T>G (n.-10-59T>G)
20g.46613611A>GCA510772549SLC13A3c.226T>C (p.Leu76=)
c.85T>C (p.Leu29=)
c.115T>C (p.Leu39=)
c.-10-59T>C (n.-10-59T>C)
20g.46613611A>TCA409270086SLC13A3c.226T>A (p.Leu76Met)
c.85T>A (p.Leu29Met)
c.115T>A (p.Leu39Met)
c.-10-59T>A (n.-10-59T>A)
20g.46613612G>ACA510772550SLC13A3c.225C>T (p.Ile75=)
c.84C>T (p.Ile28=)
c.114C>T (p.Ile38=)
c.-10-60C>T (n.-10-60C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.46613612G>CCA409270088SLC13A3c.225C>G (p.Ile75Met)
c.84C>G (p.Ile28Met)
c.114C>G (p.Ile38Met)
c.-10-60C>G (n.-10-60C>G)
20g.46613612G=CA2366747168SLC13A3c.225C= (p.Ile75=)
c.84C= (p.Ile28=)
c.114C= (p.Ile38=)
c.-10-60C= (n.-10-60C=)
20g.46613612G>TCA510772551SLC13A3c.225C>A (p.Ile75=)
c.84C>A (p.Ile28=)
c.114C>A (p.Ile38=)
c.-10-60C>A (n.-10-60C>A)
20g.46613613A>CCA409270096SLC13A3c.224T>G (p.Ile75Ser)
c.83T>G (p.Ile28Ser)
c.113T>G (p.Ile38Ser)
c.-10-61T>G (n.-10-61T>G)
20g.46613613A>GCA409270099SLC13A3c.224T>C (p.Ile75Thr)
c.83T>C (p.Ile28Thr)
c.113T>C (p.Ile38Thr)
c.-10-61T>C (n.-10-61T>C)
 gnomAD v4
20g.46613613A>TCA409270102SLC13A3c.224T>A (p.Ile75Asn)
c.83T>A (p.Ile28Asn)
c.113T>A (p.Ile38Asn)
c.-10-61T>A (n.-10-61T>A)
20g.46613614T>ACA409270104SLC13A3c.223A>T (p.Ile75Phe)
c.82A>T (p.Ile28Phe)
c.112A>T (p.Ile38Phe)
c.-10-62A>T (n.-10-62A>T)
20g.46613614T>CCA9891685SLC13A3c.223A>G (p.Ile75Val)
c.82A>G (p.Ile28Val)
c.112A>G (p.Ile38Val)
c.-10-62A>G (n.-10-62A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.46613614T>GCA409270107SLC13A3c.223A>C (p.Ile75Leu)
c.82A>C (p.Ile28Leu)
c.112A>C (p.Ile38Leu)
c.-10-62A>C (n.-10-62A>C)
20g.46613614T=CA2366747169SLC13A3c.223A= (p.Ile75=)
c.82A= (p.Ile28=)
c.112A= (p.Ile38=)
c.-10-62A= (n.-10-62A=)
20g.46613615G>ACA9891686SLC13A3c.222C>T (p.Gly74=)
c.81C>T (p.Gly27=)
c.111C>T (p.Gly37=)
c.-10-63C>T (n.-10-63C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613615G>CCA510772552SLC13A3c.222C>G (p.Gly74=)
c.81C>G (p.Gly27=)
c.111C>G (p.Gly37=)
c.-10-63C>G (n.-10-63C>G)
20g.46613615G=CA2366747170SLC13A3c.222C= (p.Gly74=)
c.81C= (p.Gly27=)
c.111C= (p.Gly37=)
c.-10-63C= (n.-10-63C=)
20g.46613615G>TCA510772553SLC13A3c.222C>A (p.Gly74=)
c.81C>A (p.Gly27=)
c.111C>A (p.Gly37=)
c.-10-63C>A (n.-10-63C>A)
 COSMIC COSMIC COSMIC
20g.46613616C>ACA409270118SLC13A3c.221G>T (p.Gly74Val)
c.80G>T (p.Gly27Val)
c.110G>T (p.Gly37Val)
c.-10-64G>T (n.-10-64G>T)
 dbSNP gnomAD v3 gnomAD v4
20g.46613616C=CA2366747171SLC13A3c.221G= (p.Gly74=)
c.80G= (p.Gly27=)
c.110G= (p.Gly37=)
c.-10-64G= (n.-10-64G=)
20g.46613616C>GCA409270113SLC13A3c.221G>C (p.Gly74Ala)
c.80G>C (p.Gly27Ala)
c.110G>C (p.Gly37Ala)
c.-10-64G>C (n.-10-64G>C)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.46613616C>TCA409270112SLC13A3c.221G>A (p.Gly74Asp)
c.80G>A (p.Gly27Asp)
c.110G>A (p.Gly37Asp)
c.-10-64G>A (n.-10-64G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.46613617C>ACA409270121SLC13A3c.220G>T (p.Gly74Cys)
c.79G>T (p.Gly27Cys)
c.109G>T (p.Gly37Cys)
c.-10-65G>T (n.-10-65G>T)
20g.46613617C>GCA409270123SLC13A3c.220G>C (p.Gly74Arg)
c.79G>C (p.Gly27Arg)
c.109G>C (p.Gly37Arg)
c.-10-65G>C (n.-10-65G>C)
20g.46613617C>TCA409270122SLC13A3c.220G>A (p.Gly74Ser)
c.79G>A (p.Gly27Ser)
c.109G>A (p.Gly37Ser)
c.-10-65G>A (n.-10-65G>A)
20g.46613618C>ACA409270124SLC13A3c.219G>T (p.Met73Ile)
c.78G>T (p.Met26Ile)
c.108G>T (p.Met36Ile)
c.-10-66G>T (n.-10-66G>T)
 gnomAD v4
20g.46613618C>GCA409270126SLC13A3c.219G>C (p.Met73Ile)
c.78G>C (p.Met26Ile)
c.108G>C (p.Met36Ile)
c.-10-66G>C (n.-10-66G>C)
20g.46613618C>TCA409270125SLC13A3c.219G>A (p.Met73Ile)
c.78G>A (p.Met26Ile)
c.108G>A (p.Met36Ile)
c.-10-66G>A (n.-10-66G>A)
 gnomAD v4
20g.46613619delCA2653165698SLC13A3c.218del (p.Met73ArgfsTer25)
c.77del (p.Met26ArgfsTer25)
c.107del (p.Met36ArgfsTer25)
c.-10-67del (n.-10-67del)
 gnomAD v4
20g.46613619A=CA2366747172SLC13A3c.218T= (p.Met73=)
c.77T= (p.Met26=)
c.107T= (p.Met36=)
c.-10-67T= (n.-10-67T=)
20g.46613619A>CCA409270128SLC13A3c.218T>G (p.Met73Arg)
c.77T>G (p.Met26Arg)
c.107T>G (p.Met36Arg)
c.-10-67T>G (n.-10-67T>G)
20g.46613619A>GCA9891687SLC13A3c.218T>C (p.Met73Thr)
c.77T>C (p.Met26Thr)
c.107T>C (p.Met36Thr)
c.-10-67T>C (n.-10-67T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613619A>TCA409270129SLC13A3c.218T>A (p.Met73Lys)
c.77T>A (p.Met26Lys)
c.107T>A (p.Met36Lys)
c.-10-67T>A (n.-10-67T>A)
20g.46613620T>ACA409270133SLC13A3c.217A>T (p.Met73Leu)
c.76A>T (p.Met26Leu)
c.106A>T (p.Met36Leu)
c.-10-68A>T (n.-10-68A>T)
20g.46613620T>CCA409270138SLC13A3c.217A>G (p.Met73Val)
c.76A>G (p.Met26Val)
c.106A>G (p.Met36Val)
c.-10-68A>G (n.-10-68A>G)
 dbSNP gnomAD v3 gnomAD v4
20g.46613620T>GCA409270135SLC13A3c.217A>C (p.Met73Leu)
c.76A>C (p.Met26Leu)
c.106A>C (p.Met36Leu)
c.-10-68A>C (n.-10-68A>C)
20g.46613620T=CA2366747173SLC13A3c.217A= (p.Met73=)
c.76A= (p.Met26=)
c.106A= (p.Met36=)
c.-10-68A= (n.-10-68A=)
20g.46613621G>ACA510772554SLC13A3c.216C>T (p.Phe72=)
c.75C>T (p.Phe25=)
c.105C>T (p.Phe35=)
c.-10-69C>T (n.-10-69C>T)
 dbSNP COSMIC COSMIC COSMIC
20g.46613621G>CCA409270141SLC13A3c.216C>G (p.Phe72Leu)
c.75C>G (p.Phe25Leu)
c.105C>G (p.Phe35Leu)
c.-10-69C>G (n.-10-69C>G)
20g.46613621G=CA2366747174SLC13A3c.216C= (p.Phe72=)
c.75C= (p.Phe25=)
c.105C= (p.Phe35=)
c.-10-69C= (n.-10-69C=)
20g.46613621G>TCA409270148SLC13A3c.216C>A (p.Phe72Leu)
c.75C>A (p.Phe25Leu)
c.105C>A (p.Phe35Leu)
c.-10-69C>A (n.-10-69C>A)
20g.46613622A=CA2366747175SLC13A3c.215T= (p.Phe72=)
c.74T= (p.Phe25=)
c.104T= (p.Phe35=)
c.-10-70T= (n.-10-70T=)
20g.46613622A>CCA409270150SLC13A3c.215T>G (p.Phe72Cys)
c.74T>G (p.Phe25Cys)
c.104T>G (p.Phe35Cys)
c.-10-70T>G (n.-10-70T>G)
20g.46613622A>GCA409270151SLC13A3c.215T>C (p.Phe72Ser)
c.74T>C (p.Phe25Ser)
c.104T>C (p.Phe35Ser)
c.-10-70T>C (n.-10-70T>C)
20g.46613622A>TCA9891688SLC13A3c.215T>A (p.Phe72Tyr)
c.74T>A (p.Phe25Tyr)
c.104T>A (p.Phe35Tyr)
c.-10-70T>A (n.-10-70T>A)
 dbSNP ExAC
20g.46613623A>CCA409270154SLC13A3c.214T>G (p.Phe72Val)
c.73T>G (p.Phe25Val)
c.103T>G (p.Phe35Val)
c.-10-71T>G (n.-10-71T>G)
20g.46613623A>GCA409270155SLC13A3c.214T>C (p.Phe72Leu)
c.73T>C (p.Phe25Leu)
c.103T>C (p.Phe35Leu)
c.-10-71T>C (n.-10-71T>C)
20g.46613623A>TCA409270156SLC13A3c.214T>A (p.Phe72Ile)
c.73T>A (p.Phe25Ile)
c.103T>A (p.Phe35Ile)
c.-10-71T>A (n.-10-71T>A)
20g.46613624G>ACA510772555SLC13A3c.213C>T (p.Pro71=)
c.72C>T (p.Pro24=)
c.102C>T (p.Pro34=)
c.-10-72C>T (n.-10-72C>T)
20g.46613624G>CCA510772557SLC13A3c.213C>G (p.Pro71=)
c.72C>G (p.Pro24=)
c.102C>G (p.Pro34=)
c.-10-72C>G (n.-10-72C>G)
20g.46613624G>TCA510772556SLC13A3c.213C>A (p.Pro71=)
c.72C>A (p.Pro24=)
c.102C>A (p.Pro34=)
c.-10-72C>A (n.-10-72C>A)
20g.46613625G>ACA409270159SLC13A3c.212C>T (p.Pro71Leu)
c.71C>T (p.Pro24Leu)
c.101C>T (p.Pro34Leu)
c.-10-73C>T (n.-10-73C>T)
 gnomAD v4 COSMIC COSMIC
20g.46613625G>CCA409270160SLC13A3c.212C>G (p.Pro71Arg)
c.71C>G (p.Pro24Arg)
c.101C>G (p.Pro34Arg)
c.-10-73C>G (n.-10-73C>G)
20g.46613625G>TCA409270161SLC13A3c.212C>A (p.Pro71His)
c.71C>A (p.Pro24His)
c.101C>A (p.Pro34His)
c.-10-73C>A (n.-10-73C>A)
20g.46613626G>ACA409270162SLC13A3c.211C>T (p.Pro71Ser)
c.70C>T (p.Pro24Ser)
c.100C>T (p.Pro34Ser)
c.-10-74C>T (n.-10-74C>T)
20g.46613626G>CCA409270163SLC13A3c.211C>G (p.Pro71Ala)
c.70C>G (p.Pro24Ala)
c.100C>G (p.Pro34Ala)
c.-10-74C>G (n.-10-74C>G)
20g.46613626G>TCA409270164SLC13A3c.211C>A (p.Pro71Thr)
c.70C>A (p.Pro24Thr)
c.100C>A (p.Pro34Thr)
c.-10-74C>A (n.-10-74C>A)
 gnomAD v4
20g.46613627G>ACA510772558SLC13A3c.210C>T (p.Phe70=)
c.69C>T (p.Phe23=)
c.99C>T (p.Phe33=)
c.-10-75C>T (n.-10-75C>T)
20g.46613627G>CCA409270165SLC13A3c.210C>G (p.Phe70Leu)
c.69C>G (p.Phe23Leu)
c.99C>G (p.Phe33Leu)
c.-10-75C>G (n.-10-75C>G)
20g.46613627G=CA2366747176SLC13A3c.210C= (p.Phe70=)
c.69C= (p.Phe23=)
c.99C= (p.Phe33=)
c.-10-75C= (n.-10-75C=)
20g.46613627G>TCA409270166SLC13A3c.210C>A (p.Phe70Leu)
c.69C>A (p.Phe23Leu)
c.99C>A (p.Phe33Leu)
c.-10-75C>A (n.-10-75C>A)
 dbSNP gnomAD v4
20g.46613628A>CCA409270167SLC13A3c.209T>G (p.Phe70Cys)
c.68T>G (p.Phe23Cys)
c.98T>G (p.Phe33Cys)
c.-10-76T>G (n.-10-76T>G)
20g.46613628A>GCA409270168SLC13A3c.209T>C (p.Phe70Ser)
c.68T>C (p.Phe23Ser)
c.98T>C (p.Phe33Ser)
c.-10-76T>C (n.-10-76T>C)
20g.46613628A>TCA409270169SLC13A3c.209T>A (p.Phe70Tyr)
c.68T>A (p.Phe23Tyr)
c.98T>A (p.Phe33Tyr)
c.-10-76T>A (n.-10-76T>A)
20g.46613629A=CA2366747177SLC13A3c.208T= (p.Phe70=)
c.67T= (p.Phe23=)
c.97T= (p.Phe33=)
c.-10-77T= (n.-10-77T=)
20g.46613629A>CCA409270170SLC13A3c.208T>G (p.Phe70Val)
c.67T>G (p.Phe23Val)
c.97T>G (p.Phe33Val)
c.-10-77T>G (n.-10-77T>G)
20g.46613629A>GCA409270171SLC13A3c.208T>C (p.Phe70Leu)
c.67T>C (p.Phe23Leu)
c.97T>C (p.Phe33Leu)
c.-10-77T>C (n.-10-77T>C)
20g.46613629A>TCA315749384SLC13A3c.208T>A (p.Phe70Ile)
c.67T>A (p.Phe23Ile)
c.97T>A (p.Phe33Ile)
c.-10-77T>A (n.-10-77T>A)
 dbSNP gnomAD v3 gnomAD v4
20g.46613630G>ACA510772559SLC13A3c.207C>T (p.Leu69=)
c.66C>T (p.Leu22=)
c.96C>T (p.Leu32=)
c.-10-78C>T (n.-10-78C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.46613630G>CCA9891689SLC13A3c.207C>G (p.Leu69=)
c.66C>G (p.Leu22=)
c.96C>G (p.Leu32=)
c.-10-78C>G (n.-10-78C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613630G=CA2366747178SLC13A3c.207C= (p.Leu69=)
c.66C= (p.Leu22=)
c.96C= (p.Leu32=)
c.-10-78C= (n.-10-78C=)
20g.46613630G>TCA510772560SLC13A3c.207C>A (p.Leu69=)
c.66C>A (p.Leu22=)
c.96C>A (p.Leu32=)
c.-10-78C>A (n.-10-78C>A)
20g.46613631A=CA2366747179SLC13A3c.206T= (p.Leu69=)
c.65T= (p.Leu22=)
c.95T= (p.Leu32=)
c.-10-79T= (n.-10-79T=)
20g.46613631A>CCA409270180SLC13A3c.206T>G (p.Leu69Arg)
c.65T>G (p.Leu22Arg)
c.95T>G (p.Leu32Arg)
c.-10-79T>G (n.-10-79T>G)
20g.46613631A>GCA409270181SLC13A3c.206T>C (p.Leu69Pro)
c.65T>C (p.Leu22Pro)
c.95T>C (p.Leu32Pro)
c.-10-79T>C (n.-10-79T>C)
 dbSNP
20g.46613631A>TCA409270184SLC13A3c.206T>A (p.Leu69His)
c.65T>A (p.Leu22His)
c.95T>A (p.Leu32His)
c.-10-79T>A (n.-10-79T>A)
20g.46613632G>ACA9891690SLC13A3c.205C>T (p.Leu69Phe)
c.64C>T (p.Leu22Phe)
c.94C>T (p.Leu32Phe)
c.-10-80C>T (n.-10-80C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613632G>CCA409270190SLC13A3c.205C>G (p.Leu69Val)
c.64C>G (p.Leu22Val)
c.94C>G (p.Leu32Val)
c.-10-80C>G (n.-10-80C>G)
20g.46613632G=CA2366747180SLC13A3c.205C= (p.Leu69=)
c.64C= (p.Leu22=)
c.94C= (p.Leu32=)
c.-10-80C= (n.-10-80C=)
20g.46613632G>TCA409270186SLC13A3c.205C>A (p.Leu69Ile)
c.64C>A (p.Leu22Ile)
c.94C>A (p.Leu32Ile)
c.-10-80C>A (n.-10-80C>A)
20g.46613633G>ACA510772562SLC13A3c.204C>T (p.Val68=)
c.63C>T (p.Val21=)
c.93C>T (p.Val31=)
c.-10-81C>T (n.-10-81C>T)
 dbSNP
20g.46613633G>CCA510772563SLC13A3c.204C>G (p.Val68=)
c.63C>G (p.Val21=)
c.93C>G (p.Val31=)
c.-10-81C>G (n.-10-81C>G)
20g.46613633G=CA2366747181SLC13A3c.204C= (p.Val68=)
c.63C= (p.Val21=)
c.93C= (p.Val31=)
c.-10-81C= (n.-10-81C=)
20g.46613633G>TCA510772561SLC13A3c.204C>A (p.Val68=)
c.63C>A (p.Val21=)
c.93C>A (p.Val31=)
c.-10-81C>A (n.-10-81C>A)
20g.46613634A>CCA409270193SLC13A3c.203T>G (p.Val68Gly)
c.62T>G (p.Val21Gly)
c.92T>G (p.Val31Gly)
c.-10-82T>G (n.-10-82T>G)
20g.46613634A>GCA409270195SLC13A3c.203T>C (p.Val68Ala)
c.62T>C (p.Val21Ala)
c.92T>C (p.Val31Ala)
c.-10-82T>C (n.-10-82T>C)
20g.46613634A>TCA409270200SLC13A3c.203T>A (p.Val68Asp)
c.62T>A (p.Val21Asp)
c.92T>A (p.Val31Asp)
c.-10-82T>A (n.-10-82T>A)
20g.46613635C>ACA409270201SLC13A3c.202G>T (p.Val68Phe)
c.61G>T (p.Val21Phe)
c.91G>T (p.Val31Phe)
c.-10-83G>T (n.-10-83G>T)
 gnomAD v4
20g.46613635C=CA2366747182SLC13A3c.202G= (p.Val68=)
c.61G= (p.Val21=)
c.91G= (p.Val31=)
c.-10-83G= (n.-10-83G=)
20g.46613635C>GCA409270203SLC13A3c.202G>C (p.Val68Leu)
c.61G>C (p.Val21Leu)
c.91G>C (p.Val31Leu)
c.-10-83G>C (n.-10-83G>C)
20g.46613635C>TCA9891691SLC13A3c.202G>A (p.Val68Ile)
c.61G>A (p.Val21Ile)
c.91G>A (p.Val31Ile)
c.-10-83G>A (n.-10-83G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613636G>ACA9891692SLC13A3c.201C>T (p.Ile67=)
c.60C>T (p.Ile20=)
c.90C>T (p.Ile30=)
c.-10-84C>T (n.-10-84C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46613636G>CCA409270207SLC13A3c.201C>G (p.Ile67Met)
c.60C>G (p.Ile20Met)
c.90C>G (p.Ile30Met)
c.-10-84C>G (n.-10-84C>G)
20g.46613636G=CA2366747183SLC13A3c.201C= (p.Ile67=)
c.60C= (p.Ile20=)
c.90C= (p.Ile30=)
c.-10-84C= (n.-10-84C=)
20g.46613636G>TCA510772565SLC13A3c.201C>A (p.Ile67=)
c.60C>A (p.Ile20=)
c.90C>A (p.Ile30=)
c.-10-84C>A (n.-10-84C>A)
20g.46613637A>CCA409270209SLC13A3c.200T>G (p.Ile67Ser)
c.59T>G (p.Ile20Ser)
c.89T>G (p.Ile30Ser)
c.-10-85T>G (n.-10-85T>G)
20g.46613637A>GCA409270211SLC13A3c.200T>C (p.Ile67Thr)
c.59T>C (p.Ile20Thr)
c.89T>C (p.Ile30Thr)
c.-10-85T>C (n.-10-85T>C)
20g.46613637A>TCA409270218SLC13A3c.200T>A (p.Ile67Asn)
c.59T>A (p.Ile20Asn)
c.89T>A (p.Ile30Asn)
c.-10-85T>A (n.-10-85T>A)
20g.46613638T>ACA409270226SLC13A3c.199A>T (p.Ile67Phe)
c.58A>T (p.Ile20Phe)
c.88A>T (p.Ile30Phe)
c.-10-86A>T (n.-10-86A>T)
20g.46613638T>CCA409270221SLC13A3c.199A>G (p.Ile67Val)
c.58A>G (p.Ile20Val)
c.88A>G (p.Ile30Val)
c.-10-86A>G (n.-10-86A>G)
20g.46613638T>GCA409270224SLC13A3c.199A>C (p.Ile67Leu)
c.58A>C (p.Ile20Leu)
c.88A>C (p.Ile30Leu)
c.-10-86A>C (n.-10-86A>C)
20g.46613639G>ACA510772566SLC13A3c.198C>T (p.Pro66=)
c.57C>T (p.Pro19=)
c.87C>T (p.Pro29=)
c.-10-87C>T (n.-10-87C>T)
 COSMIC COSMIC COSMIC
20g.46613639G>CCA510772567SLC13A3c.198C>G (p.Pro66=)
c.57C>G (p.Pro19=)
c.87C>G (p.Pro29=)
c.-10-87C>G (n.-10-87C>G)
20g.46613639G>TCA510772568SLC13A3c.198C>A (p.Pro66=)
c.57C>A (p.Pro19=)
c.87C>A (p.Pro29=)
c.-10-87C>A (n.-10-87C>A)
20g.46613640G>ACA409270227SLC13A3c.197C>T (p.Pro66Leu)
c.56C>T (p.Pro19Leu)
c.86C>T (p.Pro29Leu)
c.-10-88C>T (n.-10-88C>T)
20g.46613640G>CCA409270228SLC13A3c.197C>G (p.Pro66Arg)
c.56C>G (p.Pro19Arg)
c.86C>G (p.Pro29Arg)
c.-10-88C>G (n.-10-88C>G)
20g.46613640G=CA2366747184SLC13A3c.197C= (p.Pro66=)
c.56C= (p.Pro19=)
c.86C= (p.Pro29=)
c.-10-88C= (n.-10-88C=)
20g.46613640G>TCA409270229SLC13A3c.197C>A (p.Pro66His)
c.56C>A (p.Pro19His)
c.86C>A (p.Pro29His)
c.-10-88C>A (n.-10-88C>A)
 dbSNP
20g.46613640_46613641insTTCA636177687SLC13A3c.196_197insAA (p.Pro66GlnfsTer?)
c.55_56insAA (p.Pro19GlnfsTer?)
c.85_86insAA (p.Pro29GlnfsTer?)
c.-10-89_-10-88insAA (n.-10-89_-10-88insAA)
 dbSNP gnomAD v2
20g.46613641G>ACA409270230SLC13A3c.196C>T (p.Pro66Ser)
c.55C>T (p.Pro19Ser)
c.85C>T (p.Pro29Ser)
c.-10-89C>T (n.-10-89C>T)
20g.46613641G>CCA409270231SLC13A3c.196C>G (p.Pro66Ala)
c.55C>G (p.Pro19Ala)
c.85C>G (p.Pro29Ala)
c.-10-89C>G (n.-10-89C>G)
 dbSNP gnomAD v2
20g.46613641G=CA2366747185SLC13A3c.196C= (p.Pro66=)
c.55C= (p.Pro19=)
c.85C= (p.Pro29=)
c.-10-89C= (n.-10-89C=)
20g.46613641G>TCA409270233SLC13A3c.196C>A (p.Pro66Thr)
c.55C>A (p.Pro19Thr)
c.85C>A (p.Pro29Thr)
c.-10-89C>A (n.-10-89C>A)
20g.46613642C>ACA510772569SLC13A3c.195G>T (p.Leu65=)
c.54G>T (p.Leu18=)
c.84G>T (p.Leu28=)
c.-10-90G>T (n.-10-90G>T)
20g.46613642C=CA2366747186SLC13A3c.195G= (p.Leu65=)
c.54G= (p.Leu18=)
c.84G= (p.Leu28=)
c.-10-90G= (n.-10-90G=)
20g.46613642C>GCA510772570SLC13A3c.195G>C (p.Leu65=)
c.54G>C (p.Leu18=)
c.84G>C (p.Leu28=)
c.-10-90G>C (n.-10-90G>C)
20g.46613642C>TCA315749406SLC13A3c.195G>A (p.Leu65=)
c.54G>A (p.Leu18=)
c.84G>A (p.Leu28=)
c.-10-90G>A (n.-10-90G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.46613643A=CA2366747187SLC13A3c.194T= (p.Leu65=)
c.53T= (p.Leu18=)
c.83T= (p.Leu28=)
c.-10-91T= (n.-10-91T=)
20g.46613643A>CCA315749411SLC13A3c.194T>G (p.Leu65Arg)
c.53T>G (p.Leu18Arg)
c.83T>G (p.Leu28Arg)
c.-10-91T>G (n.-10-91T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46613643A>GCA409270235SLC13A3c.194T>C (p.Leu65Pro)
c.53T>C (p.Leu18Pro)
c.83T>C (p.Leu28Pro)
c.-10-91T>C (n.-10-91T>C)
20g.46613643A>TCA409270237SLC13A3c.194T>A (p.Leu65Gln)
c.53T>A (p.Leu18Gln)
c.83T>A (p.Leu28Gln)
c.-10-91T>A (n.-10-91T>A)
20g.46613644G>ACA510772571SLC13A3c.193C>T (p.Leu65=)
c.52C>T (p.Leu18=)
c.82C>T (p.Leu28=)
c.-10-92C>T (n.-10-92C>T)
20g.46613644G>CCA409270242SLC13A3c.193C>G (p.Leu65Val)
c.52C>G (p.Leu18Val)
c.82C>G (p.Leu28Val)
c.-10-92C>G (n.-10-92C>G)
20g.46613644G>TCA409270246SLC13A3c.193C>A (p.Leu65Met)
c.52C>A (p.Leu18Met)
c.82C>A (p.Leu28Met)
c.-10-92C>A (n.-10-92C>A)
20g.46613645C>ACA510772573SLC13A3c.192G>T (p.Leu64=)
c.51G>T (p.Leu17=)
c.81G>T (p.Leu27=)
c.-10-93G>T (n.-10-93G>T)
20g.46613645C=CA2366747188SLC13A3c.192G= (p.Leu64=)
c.51G= (p.Leu17=)
c.81G= (p.Leu27=)
c.-10-93G= (n.-10-93G=)
20g.46613645C>GCA510772574SLC13A3c.192G>C (p.Leu64=)
c.51G>C (p.Leu17=)
c.81G>C (p.Leu27=)
c.-10-93G>C (n.-10-93G>C)
 gnomAD v4
20g.46613645C>TCA510772575SLC13A3c.192G>A (p.Leu64=)
c.51G>A (p.Leu17=)
c.81G>A (p.Leu27=)
c.-10-93G>A (n.-10-93G>A)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched