Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6695761G>ACA497596255SLC13A5c.1020C>T (p.Gly340=)
c.969C>T (p.Gly323=)
c.891C>T (p.Gly297=)
n.129C>T
n.2153C>T
c.909C>T (p.Gly303=)
17g.6695761G>CCA497596256SLC13A5c.1020C>G (p.Gly340=)
c.969C>G (p.Gly323=)
c.891C>G (p.Gly297=)
n.129C>G
n.2153C>G
c.909C>G (p.Gly303=)
17g.6695761G>TCA497596257SLC13A5c.1020C>A (p.Gly340=)
c.969C>A (p.Gly323=)
c.891C>A (p.Gly297=)
n.129C>A
n.2153C>A
c.909C>A (p.Gly303=)
17g.6695762C>ACA397743683SLC13A5c.1019G>T (p.Gly340Val)
c.968G>T (p.Gly323Val)
c.890G>T (p.Gly297Val)
n.128G>T
n.2152G>T
c.908G>T (p.Gly303Val)
 gnomAD v4
17g.6695762C>GCA397743688SLC13A5c.1019G>C (p.Gly340Ala)
c.968G>C (p.Gly323Ala)
c.890G>C (p.Gly297Ala)
n.128G>C
n.2152G>C
c.908G>C (p.Gly303Ala)
17g.6695762C>TCA397743692SLC13A5c.1019G>A (p.Gly340Asp)
c.968G>A (p.Gly323Asp)
c.890G>A (p.Gly297Asp)
n.128G>A
n.2152G>A
c.908G>A (p.Gly303Asp)
17g.6695763C>ACA397743701SLC13A5c.1018G>T (p.Gly340Cys)
c.967G>T (p.Gly323Cys)
c.889G>T (p.Gly297Cys)
n.127G>T
n.2151G>T
c.907G>T (p.Gly303Cys)
17g.6695763C=CA2245487558SLC13A5c.1018G= (p.Gly340=)
c.967G= (p.Gly323=)
c.889G= (p.Gly297=)
n.127G=
n.2151G=
c.907G= (p.Gly303=)
17g.6695763C>GCA397743697SLC13A5c.1018G>C (p.Gly340Arg)
c.967G>C (p.Gly323Arg)
c.889G>C (p.Gly297Arg)
n.127G>C
n.2151G>C
c.907G>C (p.Gly303Arg)
17g.6695763C>TCA8331554SLC13A5c.1018G>A (p.Gly340Ser)
c.967G>A (p.Gly323Ser)
c.889G>A (p.Gly297Ser)
n.127G>A
n.2151G>A
c.907G>A (p.Gly303Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695764G>ACA8331555SLC13A5c.1017C>T (p.Pro339=)
c.966C>T (p.Pro322=)
c.888C>T (p.Pro296=)
n.126C>T
n.2150C>T
c.906C>T (p.Pro302=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695764G>CCA497596258SLC13A5c.1017C>G (p.Pro339=)
c.966C>G (p.Pro322=)
c.888C>G (p.Pro296=)
n.126C>G
n.2150C>G
c.906C>G (p.Pro302=)
 ClinVar dbSNP
17g.6695764G=CA2245487559SLC13A5c.1017C= (p.Pro339=)
c.966C= (p.Pro322=)
c.888C= (p.Pro296=)
n.126C=
n.2150C=
c.906C= (p.Pro302=)
17g.6695764G>TCA497596259SLC13A5c.1017C>A (p.Pro339=)
c.966C>A (p.Pro322=)
c.888C>A (p.Pro296=)
n.126C>A
n.2150C>A
c.906C>A (p.Pro302=)
17g.6695765G>ACA397743721SLC13A5c.1016C>T (p.Pro339Leu)
c.965C>T (p.Pro322Leu)
c.887C>T (p.Pro296Leu)
n.125C>T
n.2149C>T
c.905C>T (p.Pro302Leu)
 COSMIC
17g.6695765G>CCA397743725SLC13A5c.1016C>G (p.Pro339Arg)
c.965C>G (p.Pro322Arg)
c.887C>G (p.Pro296Arg)
n.125C>G
n.2149C>G
c.905C>G (p.Pro302Arg)
17g.6695765G>TCA397743728SLC13A5c.1016C>A (p.Pro339His)
c.965C>A (p.Pro322His)
c.887C>A (p.Pro296His)
n.125C>A
n.2149C>A
c.905C>A (p.Pro302His)
17g.6695766G>ACA397743731SLC13A5c.1015C>T (p.Pro339Ser)
c.964C>T (p.Pro322Ser)
c.886C>T (p.Pro296Ser)
n.124C>T
n.2148C>T
c.904C>T (p.Pro302Ser)
17g.6695766G>CCA397743736SLC13A5c.1015C>G (p.Pro339Ala)
c.964C>G (p.Pro322Ala)
c.886C>G (p.Pro296Ala)
n.124C>G
n.2148C>G
c.904C>G (p.Pro302Ala)
17g.6695766G=CA2245487560SLC13A5c.1015C= (p.Pro339=)
c.964C= (p.Pro322=)
c.886C= (p.Pro296=)
n.124C=
n.2148C=
c.904C= (p.Pro302=)
17g.6695766G>TCA397743738SLC13A5c.1015C>A (p.Pro339Thr)
c.964C>A (p.Pro322Thr)
c.886C>A (p.Pro296Thr)
n.124C>A
n.2148C>A
c.904C>A (p.Pro302Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6695767C>ACA397743745SLC13A5c.1014G>T (p.Met338Ile)
c.963G>T (p.Met321Ile)
c.885G>T (p.Met295Ile)
n.123G>T
n.2147G>T
c.903G>T (p.Met301Ile)
17g.6695767C>GCA397743746SLC13A5c.1014G>C (p.Met338Ile)
c.963G>C (p.Met321Ile)
c.885G>C (p.Met295Ile)
n.123G>C
n.2147G>C
c.903G>C (p.Met301Ile)
17g.6695767C>TCA397743749SLC13A5c.1014G>A (p.Met338Ile)
c.963G>A (p.Met321Ile)
c.885G>A (p.Met295Ile)
n.123G>A
n.2147G>A
c.903G>A (p.Met301Ile)
17g.6695768A>CCA397743755SLC13A5c.1013T>G (p.Met338Arg)
c.962T>G (p.Met321Arg)
c.884T>G (p.Met295Arg)
n.122T>G
n.2146T>G
c.902T>G (p.Met301Arg)
17g.6695768A>GCA397743758SLC13A5c.1013T>C (p.Met338Thr)
c.962T>C (p.Met321Thr)
c.884T>C (p.Met295Thr)
n.122T>C
n.2146T>C
c.902T>C (p.Met301Thr)
17g.6695768A>TCA397743763SLC13A5c.1013T>A (p.Met338Lys)
c.962T>A (p.Met321Lys)
c.884T>A (p.Met295Lys)
n.122T>A
n.2146T>A
c.902T>A (p.Met301Lys)
17g.6695769T>ACA397743787SLC13A5c.1012A>T (p.Met338Leu)
c.961A>T (p.Met321Leu)
c.883A>T (p.Met295Leu)
n.121A>T
n.2145A>T
c.901A>T (p.Met301Leu)
17g.6695769T>CCA397743776SLC13A5c.1012A>G (p.Met338Val)
c.961A>G (p.Met321Val)
c.883A>G (p.Met295Val)
n.121A>G
n.2145A>G
c.901A>G (p.Met301Val)
17g.6695769T>GCA397743782SLC13A5c.1012A>C (p.Met338Leu)
c.961A>C (p.Met321Leu)
c.883A>C (p.Met295Leu)
n.121A>C
n.2145A>C
c.901A>C (p.Met301Leu)
17g.6695770G>ACA497596260SLC13A5c.1011C>T (p.Phe337=)
c.960C>T (p.Phe320=)
c.882C>T (p.Phe294=)
n.120C>T
n.2144C>T
c.900C>T (p.Phe300=)
 gnomAD v4 COSMIC
17g.6695770G>CCA397743789SLC13A5c.1011C>G (p.Phe337Leu)
c.960C>G (p.Phe320Leu)
c.882C>G (p.Phe294Leu)
n.120C>G
n.2144C>G
c.900C>G (p.Phe300Leu)
17g.6695770G>TCA397743791SLC13A5c.1011C>A (p.Phe337Leu)
c.960C>A (p.Phe320Leu)
c.882C>A (p.Phe294Leu)
n.120C>A
n.2144C>A
c.900C>A (p.Phe300Leu)
17g.6695771A>CCA397743799SLC13A5c.1010T>G (p.Phe337Cys)
c.959T>G (p.Phe320Cys)
c.881T>G (p.Phe294Cys)
n.119T>G
n.2143T>G
c.899T>G (p.Phe300Cys)
17g.6695771A>GCA397743805SLC13A5c.1010T>C (p.Phe337Ser)
c.959T>C (p.Phe320Ser)
c.881T>C (p.Phe294Ser)
n.119T>C
n.2143T>C
c.899T>C (p.Phe300Ser)
17g.6695771A>TCA397743809SLC13A5c.1010T>A (p.Phe337Tyr)
c.959T>A (p.Phe320Tyr)
c.881T>A (p.Phe294Tyr)
n.119T>A
n.2143T>A
c.899T>A (p.Phe300Tyr)
17g.6695772A>CCA397743814SLC13A5c.1009T>G (p.Phe337Val)
c.958T>G (p.Phe320Val)
c.880T>G (p.Phe294Val)
n.118T>G
n.2142T>G
c.898T>G (p.Phe300Val)
17g.6695772A>GCA397743820SLC13A5c.1009T>C (p.Phe337Leu)
c.958T>C (p.Phe320Leu)
c.880T>C (p.Phe294Leu)
n.118T>C
n.2142T>C
c.898T>C (p.Phe300Leu)
17g.6695772A>TCA397743822SLC13A5c.1009T>A (p.Phe337Ile)
c.958T>A (p.Phe320Ile)
c.880T>A (p.Phe294Ile)
n.118T>A
n.2142T>A
c.898T>A (p.Phe300Ile)
17g.6695773G>ACA497596263SLC13A5c.1008C>T (p.Gly336=)
c.957C>T (p.Gly319=)
c.879C>T (p.Gly293=)
n.117C>T
n.2141C>T
c.897C>T (p.Gly299=)
17g.6695773G>CCA497596262SLC13A5c.1008C>G (p.Gly336=)
c.957C>G (p.Gly319=)
c.879C>G (p.Gly293=)
n.117C>G
n.2141C>G
c.897C>G (p.Gly299=)
17g.6695773G>TCA497596261SLC13A5c.1008C>A (p.Gly336=)
c.957C>A (p.Gly319=)
c.879C>A (p.Gly293=)
n.117C>A
n.2141C>A
c.897C>A (p.Gly299=)
17g.6695774C>ACA397743825SLC13A5c.1007G>T (p.Gly336Val)
c.956G>T (p.Gly319Val)
c.878G>T (p.Gly293Val)
n.116G>T
n.2140G>T
c.896G>T (p.Gly299Val)
17g.6695774C>GCA397743828SLC13A5c.1007G>C (p.Gly336Ala)
c.956G>C (p.Gly319Ala)
c.878G>C (p.Gly293Ala)
n.116G>C
n.2140G>C
c.896G>C (p.Gly299Ala)
17g.6695774C>TCA397743852SLC13A5c.1007G>A (p.Gly336Asp)
c.956G>A (p.Gly319Asp)
c.878G>A (p.Gly293Asp)
n.116G>A
n.2140G>A
c.896G>A (p.Gly299Asp)
17g.6695775C>ACA397743859SLC13A5c.1006G>T (p.Gly336Cys)
c.955G>T (p.Gly319Cys)
c.877G>T (p.Gly293Cys)
n.115G>T
n.2139G>T
c.895G>T (p.Gly299Cys)
 gnomAD v4
17g.6695775C=CA2245487561SLC13A5c.1006G= (p.Gly336=)
c.955G= (p.Gly319=)
c.877G= (p.Gly293=)
n.115G=
n.2139G=
c.895G= (p.Gly299=)
17g.6695775C>GCA397743864SLC13A5c.1006G>C (p.Gly336Arg)
c.955G>C (p.Gly319Arg)
c.877G>C (p.Gly293Arg)
n.115G>C
n.2139G>C
c.895G>C (p.Gly299Arg)
17g.6695775C>TCA397743863SLC13A5c.1006G>A (p.Gly336Ser)
c.955G>A (p.Gly319Ser)
c.877G>A (p.Gly293Ser)
n.115G>A
n.2139G>A
c.895G>A (p.Gly299Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6695776G>ACA8331556SLC13A5c.1005C>T (p.Pro335=)
c.954C>T (p.Pro318=)
c.876C>T (p.Pro292=)
n.114C>T
n.2138C>T
c.894C>T (p.Pro298=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695776G>CCA497596264SLC13A5c.1005C>G (p.Pro335=)
c.954C>G (p.Pro318=)
c.876C>G (p.Pro292=)
n.114C>G
n.2138C>G
c.894C>G (p.Pro298=)
17g.6695776G=CA2245487562SLC13A5c.1005C= (p.Pro335=)
c.954C= (p.Pro318=)
c.876C= (p.Pro292=)
n.114C=
n.2138C=
c.894C= (p.Pro298=)
17g.6695776G>TCA16607485SLC13A5c.1005C>A (p.Pro335=)
c.954C>A (p.Pro318=)
c.876C>A (p.Pro292=)
n.114C>A
n.2138C>A
c.894C>A (p.Pro298=)
 ClinVar dbSNP gnomAD v4
17g.6695777G>ACA397743871SLC13A5c.1004C>T (p.Pro335Leu)
c.953C>T (p.Pro318Leu)
c.875C>T (p.Pro292Leu)
n.113C>T
n.2137C>T
c.893C>T (p.Pro298Leu)
17g.6695777G>CCA397743873SLC13A5c.1004C>G (p.Pro335Arg)
c.953C>G (p.Pro318Arg)
c.875C>G (p.Pro292Arg)
n.113C>G
n.2137C>G
c.893C>G (p.Pro298Arg)
17g.6695777G>TCA397743882SLC13A5c.1004C>A (p.Pro335His)
c.953C>A (p.Pro318His)
c.875C>A (p.Pro292His)
n.113C>A
n.2137C>A
c.893C>A (p.Pro298His)
17g.6695778G>ACA397743886SLC13A5c.1003C>T (p.Pro335Ser)
c.952C>T (p.Pro318Ser)
c.874C>T (p.Pro292Ser)
n.112C>T
n.2136C>T
c.892C>T (p.Pro298Ser)
17g.6695778G>CCA397743905SLC13A5c.1003C>G (p.Pro335Ala)
c.952C>G (p.Pro318Ala)
c.874C>G (p.Pro292Ala)
n.112C>G
n.2136C>G
c.892C>G (p.Pro298Ala)
17g.6695778G>TCA397743909SLC13A5c.1003C>A (p.Pro335Thr)
c.952C>A (p.Pro318Thr)
c.874C>A (p.Pro292Thr)
n.112C>A
n.2136C>A
c.892C>A (p.Pro298Thr)
 COSMIC
17g.6695779G>ACA497596265SLC13A5c.1002C>T (p.Asp334=)
c.951C>T (p.Asp317=)
c.873C>T (p.Asp291=)
n.111C>T
n.2135C>T
c.891C>T (p.Asp297=)
 ClinVar dbSNP gnomAD v4
17g.6695779G>CCA397743911SLC13A5c.1002C>G (p.Asp334Glu)
c.951C>G (p.Asp317Glu)
c.873C>G (p.Asp291Glu)
n.111C>G
n.2135C>G
c.891C>G (p.Asp297Glu)
17g.6695779G=CA2245487563SLC13A5c.1002C= (p.Asp334=)
c.951C= (p.Asp317=)
c.873C= (p.Asp291=)
n.111C=
n.2135C=
c.891C= (p.Asp297=)
17g.6695779G>TCA8331557SLC13A5c.1002C>A (p.Asp334Glu)
c.951C>A (p.Asp317Glu)
c.873C>A (p.Asp291Glu)
n.111C>A
n.2135C>A
c.891C>A (p.Asp297Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695780T>ACA397743914SLC13A5c.1001A>T (p.Asp334Val)
c.950A>T (p.Asp317Val)
c.872A>T (p.Asp291Val)
n.110A>T
n.2134A>T
c.890A>T (p.Asp297Val)
17g.6695780T>CCA397743917SLC13A5c.1001A>G (p.Asp334Gly)
c.950A>G (p.Asp317Gly)
c.872A>G (p.Asp291Gly)
n.110A>G
n.2134A>G
c.890A>G (p.Asp297Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.6695780T>GCA397743922SLC13A5c.1001A>C (p.Asp334Ala)
c.950A>C (p.Asp317Ala)
c.872A>C (p.Asp291Ala)
n.110A>C
n.2134A>C
c.890A>C (p.Asp297Ala)
17g.6695780T=CA2245487564SLC13A5c.1001A= (p.Asp334=)
c.950A= (p.Asp317=)
c.872A= (p.Asp291=)
n.110A=
n.2134A=
c.890A= (p.Asp297=)
17g.6695781C>ACA397743938SLC13A5c.1000G>T (p.Asp334Tyr)
c.949G>T (p.Asp317Tyr)
c.871G>T (p.Asp291Tyr)
n.109G>T
n.2133G>T
c.889G>T (p.Asp297Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6695781C=CA2245487565SLC13A5c.1000G= (p.Asp334=)
c.949G= (p.Asp317=)
c.871G= (p.Asp291=)
n.109G=
n.2133G=
c.889G= (p.Asp297=)
17g.6695781C>GCA397743934SLC13A5c.1000G>C (p.Asp334His)
c.949G>C (p.Asp317His)
c.871G>C (p.Asp291His)
n.109G>C
n.2133G>C
c.889G>C (p.Asp297His)
17g.6695781C>TCA397743926SLC13A5c.1000G>A (p.Asp334Asn)
c.949G>A (p.Asp317Asn)
c.871G>A (p.Asp291Asn)
n.109G>A
n.2133G>A
c.889G>A (p.Asp297Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.6695782T>ACA497596266SLC13A5c.999A>T (p.Arg333=)
c.948A>T (p.Arg316=)
c.870A>T (p.Arg290=)
n.108A>T
n.2132A>T
c.888A>T (p.Arg296=)
17g.6695782T>CCA497596267SLC13A5c.999A>G (p.Arg333=)
c.948A>G (p.Arg316=)
c.870A>G (p.Arg290=)
n.108A>G
n.2132A>G
c.888A>G (p.Arg296=)
17g.6695782T>GCA497596268SLC13A5c.999A>C (p.Arg333=)
c.948A>C (p.Arg316=)
c.870A>C (p.Arg290=)
n.108A>C
n.2132A>C
c.888A>C (p.Arg296=)
17g.6695783C>ACA397743941SLC13A5c.998G>T (p.Arg333Leu)
c.947G>T (p.Arg316Leu)
c.869G>T (p.Arg290Leu)
n.107G>T
n.2131G>T
c.887G>T (p.Arg296Leu)
17g.6695783C=CA2245487566SLC13A5c.998G= (p.Arg333=)
c.947G= (p.Arg316=)
c.869G= (p.Arg290=)
n.107G=
n.2131G=
c.887G= (p.Arg296=)
17g.6695783C>GCA397743942SLC13A5c.998G>C (p.Arg333Pro)
c.947G>C (p.Arg316Pro)
c.869G>C (p.Arg290Pro)
n.107G>C
n.2131G>C
c.887G>C (p.Arg296Pro)
17g.6695783C>TCA397743943SLC13A5c.998G>A (p.Arg333Gln)
c.947G>A (p.Arg316Gln)
c.869G>A (p.Arg290Gln)
n.107G>A
n.2131G>A
c.887G>A (p.Arg296Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.6695784G>ACA8331558SLC13A5c.997C>T (p.Arg333Ter)
c.946C>T (p.Arg316Ter)
c.868C>T (p.Arg290Ter)
n.106C>T
n.2130C>T
c.886C>T (p.Arg296Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695784G>CCA397743948SLC13A5c.997C>G (p.Arg333Gly)
c.946C>G (p.Arg316Gly)
c.868C>G (p.Arg290Gly)
n.106C>G
n.2130C>G
c.886C>G (p.Arg296Gly)
17g.6695784G=CA2245487567SLC13A5c.997C= (p.Arg333=)
c.946C= (p.Arg316=)
c.868C= (p.Arg290=)
n.106C=
n.2130C=
c.886C= (p.Arg296=)
17g.6695784G>TCA497596269SLC13A5c.997C>A (p.Arg333=)
c.946C>A (p.Arg316=)
c.868C>A (p.Arg290=)
n.106C>A
n.2130C>A
c.886C>A (p.Arg296=)
 gnomAD v4
17g.6695785G>ACA497596270SLC13A5c.996C>T (p.Ser332=)
c.945C>T (p.Ser315=)
c.867C>T (p.Ser289=)
n.105C>T
n.2129C>T
c.885C>T (p.Ser295=)
17g.6695785G>CCA497596271SLC13A5c.996C>G (p.Ser332=)
c.945C>G (p.Ser315=)
c.867C>G (p.Ser289=)
n.105C>G
n.2129C>G
c.885C>G (p.Ser295=)
17g.6695785G>TCA497596272SLC13A5c.996C>A (p.Ser332=)
c.945C>A (p.Ser315=)
c.867C>A (p.Ser289=)
n.105C>A
n.2129C>A
c.885C>A (p.Ser295=)
17g.6695786G>ACA397743954SLC13A5c.995C>T (p.Ser332Phe)
c.944C>T (p.Ser315Phe)
c.866C>T (p.Ser289Phe)
n.104C>T
n.2128C>T
c.884C>T (p.Ser295Phe)
 gnomAD v4
17g.6695786G>CCA397743958SLC13A5c.995C>G (p.Ser332Cys)
c.944C>G (p.Ser315Cys)
c.866C>G (p.Ser289Cys)
n.104C>G
n.2128C>G
c.884C>G (p.Ser295Cys)
 gnomAD v4
17g.6695786G>TCA397743959SLC13A5c.995C>A (p.Ser332Tyr)
c.944C>A (p.Ser315Tyr)
c.866C>A (p.Ser289Tyr)
n.104C>A
n.2128C>A
c.884C>A (p.Ser295Tyr)
17g.6695786_6695787delinsGACA2245487568SLC13A5c.994_995delinsTC (p.Ser332=)
c.943_944delinsTC (p.Ser315=)
c.865_866delinsTC (p.Ser289=)
n.103_104delinsTC
n.2127_2128delinsTC
c.883_884delinsTC (p.Ser295=)
17g.6695787delCA919783458SLC13A5c.994del (p.Ser332ProfsTer11)
c.943del (p.Ser315ProfsTer11)
c.865del (p.Ser289ProfsTer11)
n.103del
n.2127del
c.883del (p.Ser295ProfsTer11)
 dbSNP
17g.6695787A>CCA397743963SLC13A5c.994T>G (p.Ser332Ala)
c.943T>G (p.Ser315Ala)
c.865T>G (p.Ser289Ala)
n.103T>G
n.2127T>G
c.883T>G (p.Ser295Ala)
17g.6695787A>GCA397743965SLC13A5c.994T>C (p.Ser332Pro)
c.943T>C (p.Ser315Pro)
c.865T>C (p.Ser289Pro)
n.103T>C
n.2127T>C
c.883T>C (p.Ser295Pro)
17g.6695787A>TCA397743967SLC13A5c.994T>A (p.Ser332Thr)
c.943T>A (p.Ser315Thr)
c.865T>A (p.Ser289Thr)
n.103T>A
n.2127T>A
c.883T>A (p.Ser295Thr)
17g.6695788G>ACA497596273SLC13A5c.993C>T (p.Phe331=)
c.942C>T (p.Phe314=)
c.864C>T (p.Phe288=)
n.102C>T
n.2126C>T
c.882C>T (p.Phe294=)
17g.6695788G>CCA397743970SLC13A5c.993C>G (p.Phe331Leu)
c.942C>G (p.Phe314Leu)
c.864C>G (p.Phe288Leu)
n.102C>G
n.2126C>G
c.882C>G (p.Phe294Leu)
17g.6695788G>TCA397743977SLC13A5c.993C>A (p.Phe331Leu)
c.942C>A (p.Phe314Leu)
c.864C>A (p.Phe288Leu)
n.102C>A
n.2126C>A
c.882C>A (p.Phe294Leu)
17g.6695788_6695789delinsGACA2245487569SLC13A5c.992_993delinsTC (p.Phe331=)
c.941_942delinsTC (p.Phe314=)
c.863_864delinsTC (p.Phe288=)
n.101_102delinsTC
n.2125_2126delinsTC
c.881_882delinsTC (p.Phe294=)
17g.6695789A>CCA397743992SLC13A5c.992T>G (p.Phe331Cys)
c.941T>G (p.Phe314Cys)
c.863T>G (p.Phe288Cys)
n.101T>G
n.2125T>G
c.881T>G (p.Phe294Cys)
17g.6695789A>GCA397743991SLC13A5c.992T>C (p.Phe331Ser)
c.941T>C (p.Phe314Ser)
c.863T>C (p.Phe288Ser)
n.101T>C
n.2125T>C
c.881T>C (p.Phe294Ser)
17g.6695789A>TCA397743990SLC13A5c.992T>A (p.Phe331Tyr)
c.941T>A (p.Phe314Tyr)
c.863T>A (p.Phe288Tyr)
n.101T>A
n.2125T>A
c.881T>A (p.Phe294Tyr)
17g.6695790delCA8331559SLC13A5c.992del (p.Phe331SerfsTer12)
c.941del (p.Phe314SerfsTer12)
c.863del (p.Phe288SerfsTer12)
n.101del
n.2125del
c.881del (p.Phe294SerfsTer12)
 dbSNP ExAC gnomAD v2
17g.6695790A=CA2245487570SLC13A5c.991T= (p.Phe331=)
c.940T= (p.Phe314=)
c.862T= (p.Phe288=)
n.100T=
n.2124T=
c.880T= (p.Phe294=)
17g.6695790A>CCA397744021SLC13A5c.991T>G (p.Phe331Val)
c.940T>G (p.Phe314Val)
c.862T>G (p.Phe288Val)
n.100T>G
n.2124T>G
c.880T>G (p.Phe294Val)
17g.6695790A>GCA397744001SLC13A5c.991T>C (p.Phe331Leu)
c.940T>C (p.Phe314Leu)
c.862T>C (p.Phe288Leu)
n.100T>C
n.2124T>C
c.880T>C (p.Phe294Leu)
17g.6695790A>TCA8331560SLC13A5c.991T>A (p.Phe331Ile)
c.940T>A (p.Phe314Ile)
c.862T>A (p.Phe288Ile)
n.100T>A
n.2124T>A
c.880T>A (p.Phe294Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695792_6695794delCA2733154966SLC13A5c.989_991del (p.Trp330del)
c.938_940del (p.Trp313del)
c.860_862del (p.Trp287del)
n.98_100del
n.2122_2124del
c.878_880del (p.Trp293del)
 dbSNP
17g.6695791C>ACA397744030SLC13A5c.990G>T (p.Trp330Cys)
c.939G>T (p.Trp313Cys)
c.861G>T (p.Trp287Cys)
n.99G>T
n.2123G>T
c.879G>T (p.Trp293Cys)
17g.6695791C>GCA397744036SLC13A5c.990G>C (p.Trp330Cys)
c.939G>C (p.Trp313Cys)
c.861G>C (p.Trp287Cys)
n.99G>C
n.2123G>C
c.879G>C (p.Trp293Cys)
17g.6695791C>TCA397744046SLC13A5c.990G>A (p.Trp330Ter)
c.939G>A (p.Trp313Ter)
c.861G>A (p.Trp287Ter)
n.99G>A
n.2123G>A
c.879G>A (p.Trp293Ter)
17g.6695792C>ACA397744049SLC13A5c.989G>T (p.Trp330Leu)
c.938G>T (p.Trp313Leu)
c.860G>T (p.Trp287Leu)
n.98G>T
n.2122G>T
c.878G>T (p.Trp293Leu)
17g.6695792C>GCA397744057SLC13A5c.989G>C (p.Trp330Ser)
c.938G>C (p.Trp313Ser)
c.860G>C (p.Trp287Ser)
n.98G>C
n.2122G>C
c.878G>C (p.Trp293Ser)
17g.6695792C>TCA397744060SLC13A5c.989G>A (p.Trp330Ter)
c.938G>A (p.Trp313Ter)
c.860G>A (p.Trp287Ter)
n.98G>A
n.2122G>A
c.878G>A (p.Trp293Ter)
17g.6695793A>CCA397744064SLC13A5c.988T>G (p.Trp330Gly)
c.937T>G (p.Trp313Gly)
c.859T>G (p.Trp287Gly)
n.97T>G
n.2121T>G
c.877T>G (p.Trp293Gly)
17g.6695793A>GCA397744080SLC13A5c.988T>C (p.Trp330Arg)
c.937T>C (p.Trp313Arg)
c.859T>C (p.Trp287Arg)
n.97T>C
n.2121T>C
c.877T>C (p.Trp293Arg)
17g.6695793A>TCA397744091SLC13A5c.988T>A (p.Trp330Arg)
c.937T>A (p.Trp313Arg)
c.859T>A (p.Trp287Arg)
n.97T>A
n.2121T>A
c.877T>A (p.Trp293Arg)
17g.6695794C>ACA497596274SLC13A5c.987G>T (p.Leu329=)
c.936G>T (p.Leu312=)
c.858G>T (p.Leu286=)
n.96G>T
n.2120G>T
c.876G>T (p.Leu292=)
17g.6695794C=CA2245487571SLC13A5c.987G= (p.Leu329=)
c.936G= (p.Leu312=)
c.858G= (p.Leu286=)
n.96G=
n.2120G=
c.876G= (p.Leu292=)
17g.6695794C>GCA497596275SLC13A5c.987G>C (p.Leu329=)
c.936G>C (p.Leu312=)
c.858G>C (p.Leu286=)
n.96G>C
n.2120G>C
c.876G>C (p.Leu292=)
17g.6695794C>TCA497596276SLC13A5c.987G>A (p.Leu329=)
c.936G>A (p.Leu312=)
c.858G>A (p.Leu286=)
n.96G>A
n.2120G>A
c.876G>A (p.Leu292=)
 ClinVar dbSNP gnomAD v4
17g.6695795A>CCA397744096SLC13A5c.986T>G (p.Leu329Arg)
c.935T>G (p.Leu312Arg)
c.857T>G (p.Leu286Arg)
n.95T>G
n.2119T>G
c.875T>G (p.Leu292Arg)
17g.6695795A>GCA397744097SLC13A5c.986T>C (p.Leu329Pro)
c.935T>C (p.Leu312Pro)
c.857T>C (p.Leu286Pro)
n.95T>C
n.2119T>C
c.875T>C (p.Leu292Pro)
17g.6695795A>TCA397744099SLC13A5c.986T>A (p.Leu329Gln)
c.935T>A (p.Leu312Gln)
c.857T>A (p.Leu286Gln)
n.95T>A
n.2119T>A
c.875T>A (p.Leu292Gln)
17g.6695796G>ACA497596277SLC13A5c.985C>T (p.Leu329=)
c.934C>T (p.Leu312=)
c.856C>T (p.Leu286=)
n.94C>T
n.2118C>T
c.874C>T (p.Leu292=)
17g.6695796G>CCA397744101SLC13A5c.985C>G (p.Leu329Val)
c.934C>G (p.Leu312Val)
c.856C>G (p.Leu286Val)
n.94C>G
n.2118C>G
c.874C>G (p.Leu292Val)
17g.6695796G>TCA397744103SLC13A5c.985C>A (p.Leu329Met)
c.934C>A (p.Leu312Met)
c.856C>A (p.Leu286Met)
n.94C>A
n.2118C>A
c.874C>A (p.Leu292Met)
17g.6695797G>ACA497596278SLC13A5c.984C>T (p.Ile328=)
c.933C>T (p.Ile311=)
c.855C>T (p.Ile285=)
n.93C>T
n.2117C>T
c.873C>T (p.Ile291=)
 gnomAD v4 COSMIC
17g.6695797G>CCA397744105SLC13A5c.984C>G (p.Ile328Met)
c.933C>G (p.Ile311Met)
c.855C>G (p.Ile285Met)
n.93C>G
n.2117C>G
c.873C>G (p.Ile291Met)
 dbSNP gnomAD v2 gnomAD v4
17g.6695797G=CA2245487572SLC13A5c.984C= (p.Ile328=)
c.933C= (p.Ile311=)
c.855C= (p.Ile285=)
n.93C=
n.2117C=
c.873C= (p.Ile291=)
17g.6695797G>TCA497596279SLC13A5c.984C>A (p.Ile328=)
c.933C>A (p.Ile311=)
c.855C>A (p.Ile285=)
n.93C>A
n.2117C>A
c.873C>A (p.Ile291=)
17g.6695798A>CCA397744109SLC13A5c.983T>G (p.Ile328Ser)
c.932T>G (p.Ile311Ser)
c.854T>G (p.Ile285Ser)
n.92T>G
n.2116T>G
c.872T>G (p.Ile291Ser)
17g.6695798A>GCA397744115SLC13A5c.983T>C (p.Ile328Thr)
c.932T>C (p.Ile311Thr)
c.854T>C (p.Ile285Thr)
n.92T>C
n.2116T>C
c.872T>C (p.Ile291Thr)
17g.6695798A>TCA397744117SLC13A5c.983T>A (p.Ile328Asn)
c.932T>A (p.Ile311Asn)
c.854T>A (p.Ile285Asn)
n.92T>A
n.2116T>A
c.872T>A (p.Ile291Asn)
 gnomAD v4
17g.6695799T>ACA397744119SLC13A5c.982A>T (p.Ile328Phe)
c.931A>T (p.Ile311Phe)
c.853A>T (p.Ile285Phe)
n.91A>T
n.2115A>T
c.871A>T (p.Ile291Phe)
17g.6695799T>CCA397744121SLC13A5c.982A>G (p.Ile328Val)
c.931A>G (p.Ile311Val)
c.853A>G (p.Ile285Val)
n.91A>G
n.2115A>G
c.871A>G (p.Ile291Val)
17g.6695799T>GCA397744127SLC13A5c.982A>C (p.Ile328Leu)
c.931A>C (p.Ile311Leu)
c.853A>C (p.Ile285Leu)
n.91A>C
n.2115A>C
c.871A>C (p.Ile291Leu)
17g.6695799T=CA2245487573SLC13A5c.982A= (p.Ile328=)
c.931A= (p.Ile311=)
c.853A= (p.Ile285=)
n.91A=
n.2115A=
c.871A= (p.Ile291=)
17g.6695800G>ACA497596282SLC13A5c.981C>T (p.Val327=)
c.930C>T (p.Val310=)
c.852C>T (p.Val284=)
n.90C>T
n.2114C>T
c.870C>T (p.Val290=)
 ClinVar dbSNP
17g.6695800G>CCA497596281SLC13A5c.981C>G (p.Val327=)
c.930C>G (p.Val310=)
c.852C>G (p.Val284=)
n.90C>G
n.2114C>G
c.870C>G (p.Val290=)
17g.6695800G>TCA497596280SLC13A5c.981C>A (p.Val327=)
c.930C>A (p.Val310=)
c.852C>A (p.Val284=)
n.90C>A
n.2114C>A
c.870C>A (p.Val290=)
17g.6695802_6695819dupCA2245487574SLC13A5c.964_981dup (p.Val327_Ile328insCysPhePheLeuLeuVal)
c.913_930dup (p.Val310_Ile311insCysPhePheLeuLeuVal)
c.835_852dup (p.Val284_Ile285insCysPhePheLeuLeuVal)
n.73_90dup
n.2097_2114dup
c.853_870dup (p.Val290_Ile291insCysPhePheLeuLeuVal)
 dbSNP
17g.6695801A=CA2245487575SLC13A5c.980T= (p.Val327=)
c.929T= (p.Val310=)
c.851T= (p.Val284=)
n.89T=
n.2113T=
c.869T= (p.Val290=)
17g.6695801A>CCA397744130SLC13A5c.980T>G (p.Val327Gly)
c.929T>G (p.Val310Gly)
c.851T>G (p.Val284Gly)
n.89T>G
n.2113T>G
c.869T>G (p.Val290Gly)
 dbSNP gnomAD v4
17g.6695801A>GCA397744131SLC13A5c.980T>C (p.Val327Ala)
c.929T>C (p.Val310Ala)
c.851T>C (p.Val284Ala)
n.89T>C
n.2113T>C
c.869T>C (p.Val290Ala)
17g.6695801A>TCA397744134SLC13A5c.980T>A (p.Val327Asp)
c.929T>A (p.Val310Asp)
c.851T>A (p.Val284Asp)
n.89T>A
n.2113T>A
c.869T>A (p.Val290Asp)
17g.6695802C>ACA397744140SLC13A5c.979G>T (p.Val327Phe)
c.928G>T (p.Val310Phe)
c.850G>T (p.Val284Phe)
n.88G>T
n.2112G>T
c.868G>T (p.Val290Phe)
17g.6695802C>GCA397744143SLC13A5c.979G>C (p.Val327Leu)
c.928G>C (p.Val310Leu)
c.850G>C (p.Val284Leu)
n.88G>C
n.2112G>C
c.868G>C (p.Val290Leu)
17g.6695802C>TCA397744144SLC13A5c.979G>A (p.Val327Ile)
c.928G>A (p.Val310Ile)
c.850G>A (p.Val284Ile)
n.88G>A
n.2112G>A
c.868G>A (p.Val290Ile)
17g.6695803C>ACA497596283SLC13A5c.978G>T (p.Leu326=)
c.927G>T (p.Leu309=)
c.849G>T (p.Leu283=)
n.87G>T
n.2111G>T
c.867G>T (p.Leu289=)
17g.6695803C>GCA497596284SLC13A5c.978G>C (p.Leu326=)
c.927G>C (p.Leu309=)
c.849G>C (p.Leu283=)
n.87G>C
n.2111G>C
c.867G>C (p.Leu289=)
 gnomAD v4
17g.6695803C>TCA497596285SLC13A5c.978G>A (p.Leu326=)
c.927G>A (p.Leu309=)
c.849G>A (p.Leu283=)
n.87G>A
n.2111G>A
c.867G>A (p.Leu289=)
 COSMIC
17g.6695804A>CCA397744148SLC13A5c.977T>G (p.Leu326Arg)
c.926T>G (p.Leu309Arg)
c.848T>G (p.Leu283Arg)
n.86T>G
n.2110T>G
c.866T>G (p.Leu289Arg)
17g.6695804A>GCA397744149SLC13A5c.977T>C (p.Leu326Pro)
c.926T>C (p.Leu309Pro)
c.848T>C (p.Leu283Pro)
n.86T>C
n.2110T>C
c.866T>C (p.Leu289Pro)
17g.6695804A>TCA397744146SLC13A5c.977T>A (p.Leu326Gln)
c.926T>A (p.Leu309Gln)
c.848T>A (p.Leu283Gln)
n.86T>A
n.2110T>A
c.866T>A (p.Leu289Gln)
17g.6695805G>ACA497596286SLC13A5c.976C>T (p.Leu326=)
c.925C>T (p.Leu309=)
c.847C>T (p.Leu283=)
n.85C>T
n.2109C>T
c.865C>T (p.Leu289=)
 COSMIC
17g.6695805G>CCA397744154SLC13A5c.976C>G (p.Leu326Val)
c.925C>G (p.Leu309Val)
c.847C>G (p.Leu283Val)
n.85C>G
n.2109C>G
c.865C>G (p.Leu289Val)
17g.6695805G>TCA397744155SLC13A5c.976C>A (p.Leu326Met)
c.925C>A (p.Leu309Met)
c.847C>A (p.Leu283Met)
n.85C>A
n.2109C>A
c.865C>A (p.Leu289Met)
17g.6695806C>ACA497596287SLC13A5c.975G>T (p.Leu325=)
c.924G>T (p.Leu308=)
c.846G>T (p.Leu282=)
n.84G>T
n.2108G>T
c.864G>T (p.Leu288=)
17g.6695806C>GCA497596289SLC13A5c.975G>C (p.Leu325=)
c.924G>C (p.Leu308=)
c.846G>C (p.Leu282=)
n.84G>C
n.2108G>C
c.864G>C (p.Leu288=)
17g.6695806C>TCA497596288SLC13A5c.975G>A (p.Leu325=)
c.924G>A (p.Leu308=)
c.846G>A (p.Leu282=)
n.84G>A
n.2108G>A
c.864G>A (p.Leu288=)
17g.6695807A>CCA397744160SLC13A5c.974T>G (p.Leu325Arg)
c.923T>G (p.Leu308Arg)
c.845T>G (p.Leu282Arg)
n.83T>G
n.2107T>G
c.863T>G (p.Leu288Arg)
17g.6695807A>GCA397744162SLC13A5c.974T>C (p.Leu325Pro)
c.923T>C (p.Leu308Pro)
c.845T>C (p.Leu282Pro)
n.83T>C
n.2107T>C
c.863T>C (p.Leu288Pro)
17g.6695807A>TCA397744165SLC13A5c.974T>A (p.Leu325Gln)
c.923T>A (p.Leu308Gln)
c.845T>A (p.Leu282Gln)
n.83T>A
n.2107T>A
c.863T>A (p.Leu288Gln)
17g.6695808G>ACA497596290SLC13A5c.973C>T (p.Leu325=)
c.922C>T (p.Leu308=)
c.844C>T (p.Leu282=)
n.82C>T
n.2106C>T
c.862C>T (p.Leu288=)
 dbSNP
17g.6695808G>CCA397744168SLC13A5c.973C>G (p.Leu325Val)
c.922C>G (p.Leu308Val)
c.844C>G (p.Leu282Val)
n.82C>G
n.2106C>G
c.862C>G (p.Leu288Val)
17g.6695808G>TCA397744171SLC13A5c.973C>A (p.Leu325Met)
c.922C>A (p.Leu308Met)
c.844C>A (p.Leu282Met)
n.82C>A
n.2106C>A
c.862C>A (p.Leu288Met)
17g.6695809G>ACA497596291SLC13A5c.972C>T (p.Phe324=)
c.921C>T (p.Phe307=)
c.843C>T (p.Phe281=)
n.81C>T
n.2105C>T
c.861C>T (p.Phe287=)
 dbSNP
17g.6695809G>CCA397744179SLC13A5c.972C>G (p.Phe324Leu)
c.921C>G (p.Phe307Leu)
c.843C>G (p.Phe281Leu)
n.81C>G
n.2105C>G
c.861C>G (p.Phe287Leu)
17g.6695809G>TCA397744184SLC13A5c.972C>A (p.Phe324Leu)
c.921C>A (p.Phe307Leu)
c.843C>A (p.Phe281Leu)
n.81C>A
n.2105C>A
c.861C>A (p.Phe287Leu)
17g.6695810A>CCA397744188SLC13A5c.971T>G (p.Phe324Cys)
c.920T>G (p.Phe307Cys)
c.842T>G (p.Phe281Cys)
n.80T>G
n.2104T>G
c.860T>G (p.Phe287Cys)
17g.6695810A>GCA397744190SLC13A5c.971T>C (p.Phe324Ser)
c.920T>C (p.Phe307Ser)
c.842T>C (p.Phe281Ser)
n.80T>C
n.2104T>C
c.860T>C (p.Phe287Ser)
17g.6695810A>TCA397744192SLC13A5c.971T>A (p.Phe324Tyr)
c.920T>A (p.Phe307Tyr)
c.842T>A (p.Phe281Tyr)
n.80T>A
n.2104T>A
c.860T>A (p.Phe287Tyr)
17g.6695810_6695811delCA2576144206SLC13A5c.970_971del (p.Phe324ProfsTer26)
c.919_920del (p.Phe307ProfsTer26)
c.841_842del (p.Phe281ProfsTer26)
n.79_80del
n.2103_2104del
c.859_860del (p.Phe287ProfsTer26)
17g.6695811A=CA2245487576SLC13A5c.970T= (p.Phe324=)
c.919T= (p.Phe307=)
c.841T= (p.Phe281=)
n.79T=
n.2103T=
c.859T= (p.Phe287=)
17g.6695811A>CCA397744194SLC13A5c.970T>G (p.Phe324Val)
c.919T>G (p.Phe307Val)
c.841T>G (p.Phe281Val)
n.79T>G
n.2103T>G
c.859T>G (p.Phe287Val)
17g.6695811A>GCA8331561SLC13A5c.970T>C (p.Phe324Leu)
c.919T>C (p.Phe307Leu)
c.841T>C (p.Phe281Leu)
n.79T>C
n.2103T>C
c.859T>C (p.Phe287Leu)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17g.6695811A>TCA397744197SLC13A5c.970T>A (p.Phe324Ile)
c.919T>A (p.Phe307Ile)
c.841T>A (p.Phe281Ile)
n.79T>A
n.2103T>A
c.859T>A (p.Phe287Ile)
17g.6695812G>ACA497596292SLC13A5c.969C>T (p.Phe323=)
c.918C>T (p.Phe306=)
c.840C>T (p.Phe280=)
n.78C>T
n.2102C>T
c.858C>T (p.Phe286=)
 gnomAD v4
17g.6695812G>CCA397744200SLC13A5c.969C>G (p.Phe323Leu)
c.918C>G (p.Phe306Leu)
c.840C>G (p.Phe280Leu)
n.78C>G
n.2102C>G
c.858C>G (p.Phe286Leu)
17g.6695812G>TCA397744211SLC13A5c.969C>A (p.Phe323Leu)
c.918C>A (p.Phe306Leu)
c.840C>A (p.Phe280Leu)
n.78C>A
n.2102C>A
c.858C>A (p.Phe286Leu)
17g.6695813A=CA2245487577SLC13A5c.968T= (p.Phe323=)
c.917T= (p.Phe306=)
c.839T= (p.Phe280=)
n.77T=
n.2101T=
c.857T= (p.Phe286=)
17g.6695813A>CCA8331562SLC13A5c.968T>G (p.Phe323Cys)
c.917T>G (p.Phe306Cys)
c.839T>G (p.Phe280Cys)
n.77T>G
n.2101T>G
c.857T>G (p.Phe286Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6695813A>GCA287388155SLC13A5c.968T>C (p.Phe323Ser)
c.917T>C (p.Phe306Ser)
c.839T>C (p.Phe280Ser)
n.77T>C
n.2101T>C
c.857T>C (p.Phe286Ser)
 dbSNP
17g.6695813A>TCA397744214SLC13A5c.968T>A (p.Phe323Tyr)
c.917T>A (p.Phe306Tyr)
c.839T>A (p.Phe280Tyr)
n.77T>A
n.2101T>A
c.857T>A (p.Phe286Tyr)
17g.6695814A>CCA397744217SLC13A5c.967T>G (p.Phe323Val)
c.916T>G (p.Phe306Val)
c.838T>G (p.Phe280Val)
n.76T>G
n.2100T>G
c.856T>G (p.Phe286Val)
17g.6695814A>GCA397744220SLC13A5c.967T>C (p.Phe323Leu)
c.916T>C (p.Phe306Leu)
c.838T>C (p.Phe280Leu)
n.76T>C
n.2100T>C
c.856T>C (p.Phe286Leu)
17g.6695814A>TCA397744222SLC13A5c.967T>A (p.Phe323Ile)
c.916T>A (p.Phe306Ile)
c.838T>A (p.Phe280Ile)
n.76T>A
n.2100T>A
c.856T>A (p.Phe286Ile)
17g.6695815G>ACA497596293SLC13A5c.966C>T (p.Cys322=)
c.915C>T (p.Cys305=)
c.837C>T (p.Cys279=)
n.75C>T
n.2099C>T
c.855C>T (p.Cys285=)
 gnomAD v4
17g.6695815G>CCA397744225SLC13A5c.966C>G (p.Cys322Trp)
c.915C>G (p.Cys305Trp)
c.837C>G (p.Cys279Trp)
n.75C>G
n.2099C>G
c.855C>G (p.Cys285Trp)
17g.6695815G>TCA397744228SLC13A5c.966C>A (p.Cys322Ter)
c.915C>A (p.Cys305Ter)
c.837C>A (p.Cys279Ter)
n.75C>A
n.2099C>A
c.855C>A (p.Cys285Ter)
17g.6695816C>ACA397744249SLC13A5c.965G>T (p.Cys322Phe)
c.914G>T (p.Cys305Phe)
c.836G>T (p.Cys279Phe)
n.74G>T
n.2098G>T
c.854G>T (p.Cys285Phe)
17g.6695816C=CA2245487578SLC13A5c.965G= (p.Cys322=)
c.914G= (p.Cys305=)
c.836G= (p.Cys279=)
n.74G=
n.2098G=
c.854G= (p.Cys285=)
17g.6695816C>GCA397744251SLC13A5c.965G>C (p.Cys322Ser)
c.914G>C (p.Cys305Ser)
c.836G>C (p.Cys279Ser)
n.74G>C
n.2098G>C
c.854G>C (p.Cys285Ser)
 gnomAD v4
17g.6695816C>TCA397744253SLC13A5c.965G>A (p.Cys322Tyr)
c.914G>A (p.Cys305Tyr)
c.836G>A (p.Cys279Tyr)
n.74G>A
n.2098G>A
c.854G>A (p.Cys285Tyr)
 ClinVar dbSNP
17g.6695817A>CCA397744260SLC13A5c.964T>G (p.Cys322Gly)
c.913T>G (p.Cys305Gly)
c.835T>G (p.Cys279Gly)
c.*714T>G (n.*714T>G)
n.73T>G
n.2097T>G
c.853T>G (p.Cys285Gly)
 gnomAD v4
17g.6695817A>GCA397744272SLC13A5c.964T>C (p.Cys322Arg)
c.913T>C (p.Cys305Arg)
c.835T>C (p.Cys279Arg)
c.*714T>C (n.*714T>C)
n.73T>C
n.2097T>C
c.853T>C (p.Cys285Arg)
17g.6695817A>TCA397744257SLC13A5c.964T>A (p.Cys322Ser)
c.913T>A (p.Cys305Ser)
c.835T>A (p.Cys279Ser)
c.*714T>A (n.*714T>A)
n.73T>A
n.2097T>A
c.853T>A (p.Cys285Ser)
17g.6695818G>ACA497596294SLC13A5c.963C>T (p.Ile321=)
c.912C>T (p.Ile304=)
c.834C>T (p.Ile278=)
c.*713C>T (n.*713C>T)
n.72C>T
n.2096C>T
c.852C>T (p.Ile284=)
17g.6695818G>CCA397744279SLC13A5c.963C>G (p.Ile321Met)
c.912C>G (p.Ile304Met)
c.834C>G (p.Ile278Met)
c.*713C>G (n.*713C>G)
n.72C>G
n.2096C>G
c.852C>G (p.Ile284Met)
17g.6695818G>TCA497596295SLC13A5c.963C>A (p.Ile321=)
c.912C>A (p.Ile304=)
c.834C>A (p.Ile278=)
c.*713C>A (n.*713C>A)
n.72C>A
n.2096C>A
c.852C>A (p.Ile284=)
17g.6695819A>CCA397744284SLC13A5c.962T>G (p.Ile321Ser)
c.911T>G (p.Ile304Ser)
c.833T>G (p.Ile278Ser)
c.*712T>G (n.*712T>G)
n.71T>G
n.2095T>G
c.851T>G (p.Ile284Ser)
17g.6695819A>GCA397744289SLC13A5c.962T>C (p.Ile321Thr)
c.911T>C (p.Ile304Thr)
c.833T>C (p.Ile278Thr)
c.*712T>C (n.*712T>C)
n.71T>C
n.2095T>C
c.851T>C (p.Ile284Thr)
17g.6695819A>TCA397744290SLC13A5c.962T>A (p.Ile321Asn)
c.911T>A (p.Ile304Asn)
c.833T>A (p.Ile278Asn)
c.*712T>A (n.*712T>A)
n.71T>A
n.2095T>A
c.851T>A (p.Ile284Asn)
17g.6695820T>ACA397744301SLC13A5c.961A>T (p.Ile321Phe)
c.910A>T (p.Ile304Phe)
c.832A>T (p.Ile278Phe)
c.*711A>T (n.*711A>T)
n.70A>T
n.2094A>T
c.850A>T (p.Ile284Phe)
17g.6695820T>CCA397744302SLC13A5c.961A>G (p.Ile321Val)
c.910A>G (p.Ile304Val)
c.832A>G (p.Ile278Val)
c.*711A>G (n.*711A>G)
n.70A>G
n.2094A>G
c.850A>G (p.Ile284Val)
17g.6695820T>GCA397744304SLC13A5c.961A>C (p.Ile321Leu)
c.910A>C (p.Ile304Leu)
c.832A>C (p.Ile278Leu)
c.*711A>C (n.*711A>C)
n.70A>C
n.2094A>C
c.850A>C (p.Ile284Leu)
17g.6695821C>ACA497596298SLC13A5c.960G>T (p.Leu320=)
c.909G>T (p.Leu303=)
c.831G>T (p.Leu277=)
c.*710G>T (n.*710G>T)
n.69G>T
n.2093G>T
c.849G>T (p.Leu283=)
 COSMIC
17g.6695821C>GCA497596296SLC13A5c.960G>C (p.Leu320=)
c.909G>C (p.Leu303=)
c.831G>C (p.Leu277=)
c.*710G>C (n.*710G>C)
n.69G>C
n.2093G>C
c.849G>C (p.Leu283=)
17g.6695821C>TCA497596297SLC13A5c.960G>A (p.Leu320=)
c.909G>A (p.Leu303=)
c.831G>A (p.Leu277=)
c.*710G>A (n.*710G>A)
n.69G>A
n.2093G>A
c.849G>A (p.Leu283=)
17g.6695822A>CCA397744308SLC13A5c.959T>G (p.Leu320Arg)
c.908T>G (p.Leu303Arg)
c.830T>G (p.Leu277Arg)
c.*709T>G (n.*709T>G)
n.68T>G
n.2092T>G
c.848T>G (p.Leu283Arg)
17g.6695822A>GCA397744317SLC13A5c.959T>C (p.Leu320Pro)
c.908T>C (p.Leu303Pro)
c.830T>C (p.Leu277Pro)
c.*709T>C (n.*709T>C)
n.68T>C
n.2092T>C
c.848T>C (p.Leu283Pro)
 gnomAD v4
17g.6695822A>TCA397744321SLC13A5c.959T>A (p.Leu320Gln)
c.908T>A (p.Leu303Gln)
c.830T>A (p.Leu277Gln)
c.*709T>A (n.*709T>A)
n.68T>A
n.2092T>A
c.848T>A (p.Leu283Gln)
17g.6695823G>ACA497596299SLC13A5c.958C>T (p.Leu320=)
c.907C>T (p.Leu303=)
c.829C>T (p.Leu277=)
c.*708C>T (n.*708C>T)
n.67C>T
n.2091C>T
c.847C>T (p.Leu283=)
17g.6695823G>CCA397744328SLC13A5c.958C>G (p.Leu320Val)
c.907C>G (p.Leu303Val)
c.829C>G (p.Leu277Val)
c.*708C>G (n.*708C>G)
n.67C>G
n.2091C>G
c.847C>G (p.Leu283Val)
17g.6695823G>TCA397744332SLC13A5c.958C>A (p.Leu320Met)
c.907C>A (p.Leu303Met)
c.829C>A (p.Leu277Met)
c.*708C>A (n.*708C>A)
n.67C>A
n.2091C>A
c.847C>A (p.Leu283Met)
 gnomAD v4
17g.6695824C>ACA497596300SLC13A5c.957G>T (p.Val319=)
c.906G>T (p.Val302=)
c.828G>T (p.Val276=)
c.*707G>T (n.*707G>T)
n.66G>T
n.2090G>T
c.846G>T (p.Val282=)
17g.6695824C=CA2245487579SLC13A5c.957G= (p.Val319=)
c.906G= (p.Val302=)
c.828G= (p.Val276=)
c.*707G= (n.*707G=)
n.66G=
n.2090G=
c.846G= (p.Val282=)
17g.6695824C>GCA497596301SLC13A5c.957G>C (p.Val319=)
c.906G>C (p.Val302=)
c.828G>C (p.Val276=)
c.*707G>C (n.*707G>C)
n.66G>C
n.2090G>C
c.846G>C (p.Val282=)
17g.6695824C>TCA497596302SLC13A5c.957G>A (p.Val319=)
c.906G>A (p.Val302=)
c.828G>A (p.Val276=)
c.*707G>A (n.*707G>A)
n.66G>A
n.2090G>A
c.846G>A (p.Val282=)
 dbSNP
17g.6695825A>CCA397744338SLC13A5c.956T>G (p.Val319Gly)
c.905T>G (p.Val302Gly)
c.827T>G (p.Val276Gly)
c.*706T>G (n.*706T>G)
n.65T>G
n.2089T>G
c.845T>G (p.Val282Gly)
 gnomAD v4
17g.6695825A>GCA397744342SLC13A5c.956T>C (p.Val319Ala)
c.905T>C (p.Val302Ala)
c.827T>C (p.Val276Ala)
c.*706T>C (n.*706T>C)
n.65T>C
n.2089T>C
c.845T>C (p.Val282Ala)
17g.6695825A>TCA397744335SLC13A5c.956T>A (p.Val319Glu)
c.905T>A (p.Val302Glu)
c.827T>A (p.Val276Glu)
c.*706T>A (n.*706T>A)
n.65T>A
n.2089T>A
c.845T>A (p.Val282Glu)
17g.6695826C>ACA397744346SLC13A5c.955G>T (p.Val319Leu)
c.904G>T (p.Val302Leu)
c.826G>T (p.Val276Leu)
c.*705G>T (n.*705G>T)
n.64G>T
n.2088G>T
c.844G>T (p.Val282Leu)
 gnomAD v4
17g.6695826C=CA2245487580SLC13A5c.955G= (p.Val319=)
c.904G= (p.Val302=)
c.826G= (p.Val276=)
c.*705G= (n.*705G=)
n.64G=
n.2088G=
c.844G= (p.Val282=)
17g.6695826C>GCA397744356SLC13A5c.955G>C (p.Val319Leu)
c.904G>C (p.Val302Leu)
c.826G>C (p.Val276Leu)
c.*705G>C (n.*705G>C)
n.64G>C
n.2088G>C
c.844G>C (p.Val282Leu)
 dbSNP
17g.6695826C>TCA8331563SLC13A5c.955G>A (p.Val319Met)
c.904G>A (p.Val302Met)
c.826G>A (p.Val276Met)
c.*705G>A (n.*705G>A)
n.64G>A
n.2088G>A
c.844G>A (p.Val282Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.6695827G>ACA8331564SLC13A5c.954C>T (p.Asn318=)
c.903C>T (p.Asn301=)
c.825C>T (p.Asn275=)
c.*704C>T (n.*704C>T)
n.63C>T
n.2087C>T
c.843C>T (p.Asn281=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695827G>CCA397744361SLC13A5c.954C>G (p.Asn318Lys)
c.903C>G (p.Asn301Lys)
c.825C>G (p.Asn275Lys)
c.*704C>G (n.*704C>G)
n.63C>G
n.2087C>G
c.843C>G (p.Asn281Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.6695827G=CA2245487581SLC13A5c.954C= (p.Asn318=)
c.903C= (p.Asn301=)
c.825C= (p.Asn275=)
c.*704C= (n.*704C=)
n.63C=
n.2087C=
c.843C= (p.Asn281=)
17g.6695827G>TCA397744362SLC13A5c.954C>A (p.Asn318Lys)
c.903C>A (p.Asn301Lys)
c.825C>A (p.Asn275Lys)
c.*704C>A (n.*704C>A)
n.63C>A
n.2087C>A
c.843C>A (p.Asn281Lys)
17g.6695828T>ACA397744363SLC13A5c.953A>T (p.Asn318Ile)
c.902A>T (p.Asn301Ile)
c.824A>T (p.Asn275Ile)
c.*703A>T (n.*703A>T)
n.62A>T
n.2086A>T
c.842A>T (p.Asn281Ile)
17g.6695828T>CCA397744367SLC13A5c.953A>G (p.Asn318Ser)
c.902A>G (p.Asn301Ser)
c.824A>G (p.Asn275Ser)
c.*703A>G (n.*703A>G)
n.62A>G
n.2086A>G
c.842A>G (p.Asn281Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.6695828T>GCA397744364SLC13A5c.953A>C (p.Asn318Thr)
c.902A>C (p.Asn301Thr)
c.824A>C (p.Asn275Thr)
c.*703A>C (n.*703A>C)
n.62A>C
n.2086A>C
c.842A>C (p.Asn281Thr)
17g.6695828T=CA2245487582SLC13A5c.953A= (p.Asn318=)
c.902A= (p.Asn301=)
c.824A= (p.Asn275=)
c.*703A= (n.*703A=)
n.62A=
n.2086A=
c.842A= (p.Asn281=)
17g.6695829T>ACA397744369SLC13A5c.952A>T (p.Asn318Tyr)
c.901A>T (p.Asn301Tyr)
c.823A>T (p.Asn275Tyr)
c.*702A>T (n.*702A>T)
n.61A>T
n.2085A>T
c.841A>T (p.Asn281Tyr)
17g.6695829T>CCA397744372SLC13A5c.952A>G (p.Asn318Asp)
c.901A>G (p.Asn301Asp)
c.823A>G (p.Asn275Asp)
c.*702A>G (n.*702A>G)
n.61A>G
n.2085A>G
c.841A>G (p.Asn281Asp)
17g.6695829T>GCA397744375SLC13A5c.952A>C (p.Asn318His)
c.901A>C (p.Asn301His)
c.823A>C (p.Asn275His)
c.*702A>C (n.*702A>C)
n.61A>C
n.2085A>C
c.841A>C (p.Asn281His)
17g.6695830G>ACA497596303SLC13A5c.951C>T (p.Ile317=)
c.900C>T (p.Ile300=)
c.822C>T (p.Ile274=)
c.*701C>T (n.*701C>T)
n.60C>T
n.2084C>T
c.840C>T (p.Ile280=)
17g.6695830G>CCA397744379SLC13A5c.951C>G (p.Ile317Met)
c.900C>G (p.Ile300Met)
c.822C>G (p.Ile274Met)
c.*701C>G (n.*701C>G)
n.60C>G
n.2084C>G
c.840C>G (p.Ile280Met)
17g.6695830G>TCA497596304SLC13A5c.951C>A (p.Ile317=)
c.900C>A (p.Ile300=)
c.822C>A (p.Ile274=)
c.*701C>A (n.*701C>A)
n.60C>A
n.2084C>A
c.840C>A (p.Ile280=)
17g.6695830_6695831insGCACGATCTGGGCTCACTGCAACCTCTGCCTCCTGGGTTCACA2635728290SLC13A5c.950_951insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC (p.Asn318GlufsTer9)
c.899_900insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC (p.Asn301GlufsTer9)
c.821_822insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC (p.Asn275GlufsTer9)
c.*700_*701insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC (n.*700_*701insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC)
n.59_60insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC
n.2083_2084insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC
c.839_840insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC (p.Asn281GlufsTer9)
 gnomAD v4
17g.6695831A>CCA397744385SLC13A5c.950T>G (p.Ile317Ser)
c.899T>G (p.Ile300Ser)
c.821T>G (p.Ile274Ser)
c.*700T>G (n.*700T>G)
n.59T>G
n.2083T>G
c.839T>G (p.Ile280Ser)
17g.6695831A>GCA397744391SLC13A5c.950T>C (p.Ile317Thr)
c.899T>C (p.Ile300Thr)
c.821T>C (p.Ile274Thr)
c.*700T>C (n.*700T>C)
n.59T>C
n.2083T>C
c.839T>C (p.Ile280Thr)
17g.6695831A>TCA397744387SLC13A5c.950T>A (p.Ile317Asn)
c.899T>A (p.Ile300Asn)
c.821T>A (p.Ile274Asn)
c.*700T>A (n.*700T>A)
n.59T>A
n.2083T>A
c.839T>A (p.Ile280Asn)
17g.6695832T>ACA397744392SLC13A5c.949A>T (p.Ile317Phe)
c.898A>T (p.Ile300Phe)
c.820A>T (p.Ile274Phe)
c.*699A>T (n.*699A>T)
n.58A>T
n.2082A>T
c.838A>T (p.Ile280Phe)
 ClinVar dbSNP
17g.6695832T>CCA397744394SLC13A5c.949A>G (p.Ile317Val)
c.898A>G (p.Ile300Val)
c.820A>G (p.Ile274Val)
c.*699A>G (n.*699A>G)
n.58A>G
n.2082A>G
c.838A>G (p.Ile280Val)
 dbSNP gnomAD v2 gnomAD v4
17g.6695832T>GCA397744393SLC13A5c.949A>C (p.Ile317Leu)
c.898A>C (p.Ile300Leu)
c.820A>C (p.Ile274Leu)
c.*699A>C (n.*699A>C)
n.58A>C
n.2082A>C
c.838A>C (p.Ile280Leu)
17g.6695832T=CA2245487583SLC13A5c.949A= (p.Ile317=)
c.898A= (p.Ile300=)
c.820A= (p.Ile274=)
c.*699A= (n.*699A=)
n.58A=
n.2082A=
c.838A= (p.Ile280=)
17g.6695833C>ACA397744397SLC13A5c.948G>T (p.Glu316Asp)
c.897G>T (p.Glu299Asp)
c.819G>T (p.Glu273Asp)
c.*698G>T (n.*698G>T)
n.57G>T
n.2081G>T
c.837G>T (p.Glu279Asp)
17g.6695833C>GCA397744399SLC13A5c.948G>C (p.Glu316Asp)
c.897G>C (p.Glu299Asp)
c.819G>C (p.Glu273Asp)
c.*698G>C (n.*698G>C)
n.57G>C
n.2081G>C
c.837G>C (p.Glu279Asp)
17g.6695833C>TCA497596305SLC13A5c.948G>A (p.Glu316=)
c.897G>A (p.Glu299=)
c.819G>A (p.Glu273=)
c.*698G>A (n.*698G>A)
n.57G>A
n.2081G>A
c.837G>A (p.Glu279=)
17g.6695834T>ACA397744404SLC13A5c.947A>T (p.Glu316Val)
c.896A>T (p.Glu299Val)
c.818A>T (p.Glu273Val)
c.*697A>T (n.*697A>T)
n.56A>T
n.2080A>T
c.836A>T (p.Glu279Val)
17g.6695834T>CCA397744406SLC13A5c.947A>G (p.Glu316Gly)
c.896A>G (p.Glu299Gly)
c.818A>G (p.Glu273Gly)
c.*697A>G (n.*697A>G)
n.56A>G
n.2080A>G
c.836A>G (p.Glu279Gly)
 gnomAD v4
17g.6695834T>GCA397744408SLC13A5c.947A>C (p.Glu316Ala)
c.896A>C (p.Glu299Ala)
c.818A>C (p.Glu273Ala)
c.*697A>C (n.*697A>C)
n.56A>C
n.2080A>C
c.836A>C (p.Glu279Ala)
17g.6695835C>ACA397744411SLC13A5c.946G>T (p.Glu316Ter)
c.895G>T (p.Glu299Ter)
c.817G>T (p.Glu273Ter)
c.*696G>T (n.*696G>T)
n.55G>T
n.2079G>T
c.835G>T (p.Glu279Ter)
17g.6695835C>GCA397744414SLC13A5c.946G>C (p.Glu316Gln)
c.895G>C (p.Glu299Gln)
c.817G>C (p.Glu273Gln)
c.*696G>C (n.*696G>C)
n.55G>C
n.2079G>C
c.835G>C (p.Glu279Gln)
17g.6695835C>TCA397744418SLC13A5c.946G>A (p.Glu316Lys)
c.895G>A (p.Glu299Lys)
c.817G>A (p.Glu273Lys)
c.*696G>A (n.*696G>A)
n.55G>A
n.2079G>A
c.835G>A (p.Glu279Lys)
17g.6695836C>ACA497596306SLC13A5c.945G>T (p.Ala315=)
c.894G>T (p.Ala298=)
c.816G>T (p.Ala272=)
c.*695G>T (n.*695G>T)
n.54G>T
n.2078G>T
c.834G>T (p.Ala278=)
17g.6695836C=CA2245487584SLC13A5c.945G= (p.Ala315=)
c.894G= (p.Ala298=)
c.816G= (p.Ala272=)
c.*695G= (n.*695G=)
n.54G=
n.2078G=
c.834G= (p.Ala278=)
17g.6695836C>GCA497596307SLC13A5c.945G>C (p.Ala315=)
c.894G>C (p.Ala298=)
c.816G>C (p.Ala272=)
c.*695G>C (n.*695G>C)
n.54G>C
n.2078G>C
c.834G>C (p.Ala278=)
 gnomAD v4
17g.6695836C>TCA16607492SLC13A5c.945G>A (p.Ala315=)
c.894G>A (p.Ala298=)
c.816G>A (p.Ala272=)
c.*695G>A (n.*695G>A)
n.54G>A
n.2078G>A
c.834G>A (p.Ala278=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.6695837G>ACA8331565SLC13A5c.944C>T (p.Ala315Val)
c.893C>T (p.Ala298Val)
c.815C>T (p.Ala272Val)
c.*694C>T (n.*694C>T)
n.53C>T
n.2077C>T
c.833C>T (p.Ala278Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695837G>CCA397744431SLC13A5c.944C>G (p.Ala315Gly)
c.893C>G (p.Ala298Gly)
c.815C>G (p.Ala272Gly)
c.*694C>G (n.*694C>G)
n.53C>G
n.2077C>G
c.833C>G (p.Ala278Gly)
17g.6695837G=CA2245487585SLC13A5c.944C= (p.Ala315=)
c.893C= (p.Ala298=)
c.815C= (p.Ala272=)
c.*694C= (n.*694C=)
n.53C=
n.2077C=
c.833C= (p.Ala278=)
17g.6695837G>TCA397744434SLC13A5c.944C>A (p.Ala315Glu)
c.893C>A (p.Ala298Glu)
c.815C>A (p.Ala272Glu)
c.*694C>A (n.*694C>A)
n.53C>A
n.2077C>A
c.833C>A (p.Ala278Glu)
 ClinVar dbSNP gnomAD v4
17g.6695838C>ACA397744438SLC13A5c.943G>T (p.Ala315Ser)
c.892G>T (p.Ala298Ser)
c.814G>T (p.Ala272Ser)
c.*693G>T (n.*693G>T)
n.52G>T
n.2076G>T
c.832G>T (p.Ala278Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.6695838C=CA2245487586SLC13A5c.943G= (p.Ala315=)
c.892G= (p.Ala298=)
c.814G= (p.Ala272=)
c.*693G= (n.*693G=)
n.52G=
n.2076G=
c.832G= (p.Ala278=)
17g.6695838C>GCA397744445SLC13A5c.943G>C (p.Ala315Pro)
c.892G>C (p.Ala298Pro)
c.814G>C (p.Ala272Pro)
c.*693G>C (n.*693G>C)
n.52G>C
n.2076G>C
c.832G>C (p.Ala278Pro)
 dbSNP gnomAD v2 gnomAD v4
17g.6695838C>TCA8331566SLC13A5c.943G>A (p.Ala315Thr)
c.892G>A (p.Ala298Thr)
c.814G>A (p.Ala272Thr)
c.*693G>A (n.*693G>A)
n.52G>A
n.2076G>A
c.832G>A (p.Ala278Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.6695839G>ACA8331567SLC13A5c.942C>T (p.Phe314=)
c.891C>T (p.Phe297=)
c.813C>T (p.Phe271=)
c.*692C>T (n.*692C>T)
n.51C>T
n.2075C>T
c.831C>T (p.Phe277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695839G>CCA397744458SLC13A5c.942C>G (p.Phe314Leu)
c.891C>G (p.Phe297Leu)
c.813C>G (p.Phe271Leu)
c.*692C>G (n.*692C>G)
n.51C>G
n.2075C>G
c.831C>G (p.Phe277Leu)
17g.6695839G=CA2245487587SLC13A5c.942C= (p.Phe314=)
c.891C= (p.Phe297=)
c.813C= (p.Phe271=)
c.*692C= (n.*692C=)
n.51C=
n.2075C=
c.831C= (p.Phe277=)
17g.6695839G>TCA397744461SLC13A5c.942C>A (p.Phe314Leu)
c.891C>A (p.Phe297Leu)
c.813C>A (p.Phe271Leu)
c.*692C>A (n.*692C>A)
n.51C>A
n.2075C>A
c.831C>A (p.Phe277Leu)
17g.6695840A>CCA397744465SLC13A5c.941T>G (p.Phe314Cys)
c.890T>G (p.Phe297Cys)
c.812T>G (p.Phe271Cys)
c.*691T>G (n.*691T>G)
n.50T>G
n.2074T>G
c.830T>G (p.Phe277Cys)
17g.6695840A>GCA397744469SLC13A5c.941T>C (p.Phe314Ser)
c.890T>C (p.Phe297Ser)
c.812T>C (p.Phe271Ser)
c.*691T>C (n.*691T>C)
n.50T>C
n.2074T>C
c.830T>C (p.Phe277Ser)
17g.6695840A>TCA397744471SLC13A5c.941T>A (p.Phe314Tyr)
c.890T>A (p.Phe297Tyr)
c.812T>A (p.Phe271Tyr)
c.*691T>A (n.*691T>A)
n.50T>A
n.2074T>A
c.830T>A (p.Phe277Tyr)
17g.6695841A>CCA397744473SLC13A5c.940T>G (p.Phe314Val)
c.889T>G (p.Phe297Val)
c.811T>G (p.Phe271Val)
c.*690T>G (n.*690T>G)
n.49T>G
n.2073T>G
c.829T>G (p.Phe277Val)
17g.6695841A>GCA397744474SLC13A5c.940T>C (p.Phe314Leu)
c.889T>C (p.Phe297Leu)
c.811T>C (p.Phe271Leu)
c.*690T>C (n.*690T>C)
n.49T>C
n.2073T>C
c.829T>C (p.Phe277Leu)
17g.6695841A>TCA397744478SLC13A5c.940T>A (p.Phe314Ile)
c.889T>A (p.Phe297Ile)
c.811T>A (p.Phe271Ile)
c.*690T>A (n.*690T>A)
n.49T>A
n.2073T>A
c.829T>A (p.Phe277Ile)
17g.6695842G>ACA497596310SLC13A5c.939C>T (p.Ser313=)
c.888C>T (p.Ser296=)
c.810C>T (p.Ser270=)
c.*689C>T (n.*689C>T)
n.48C>T
n.2072C>T
c.828C>T (p.Ser276=)
17g.6695842G>CCA497596309SLC13A5c.939C>G (p.Ser313=)
c.888C>G (p.Ser296=)
c.810C>G (p.Ser270=)
c.*689C>G (n.*689C>G)
n.48C>G
n.2072C>G
c.828C>G (p.Ser276=)
17g.6695842G>TCA497596308SLC13A5c.939C>A (p.Ser313=)
c.888C>A (p.Ser296=)
c.810C>A (p.Ser270=)
c.*689C>A (n.*689C>A)
n.48C>A
n.2072C>A
c.828C>A (p.Ser276=)
 gnomAD v4
17g.6695843G>ACA397744480SLC13A5c.938C>T (p.Ser313Phe)
c.887C>T (p.Ser296Phe)
c.809C>T (p.Ser270Phe)
c.*688C>T (n.*688C>T)
n.47C>T
n.2071C>T
c.827C>T (p.Ser276Phe)
 gnomAD v4
17g.6695843G>CCA397744481SLC13A5c.938C>G (p.Ser313Cys)
c.887C>G (p.Ser296Cys)
c.809C>G (p.Ser270Cys)
c.*688C>G (n.*688C>G)
n.47C>G
n.2071C>G
c.827C>G (p.Ser276Cys)
17g.6695843G>TCA397744482SLC13A5c.938C>A (p.Ser313Tyr)
c.887C>A (p.Ser296Tyr)
c.809C>A (p.Ser270Tyr)
c.*688C>A (n.*688C>A)
n.47C>A
n.2071C>A
c.827C>A (p.Ser276Tyr)
17g.6695844A>CCA397744483SLC13A5c.937T>G (p.Ser313Ala)
c.886T>G (p.Ser296Ala)
c.808T>G (p.Ser270Ala)
c.*687T>G (n.*687T>G)
n.46T>G
n.2070T>G
c.826T>G (p.Ser276Ala)
17g.6695844A>GCA397744485SLC13A5c.937T>C (p.Ser313Pro)
c.886T>C (p.Ser296Pro)
c.808T>C (p.Ser270Pro)
c.*687T>C (n.*687T>C)
n.46T>C
n.2070T>C
c.826T>C (p.Ser276Pro)
17g.6695844A>TCA397744486SLC13A5c.937T>A (p.Ser313Thr)
c.886T>A (p.Ser296Thr)
c.808T>A (p.Ser270Thr)
c.*687T>A (n.*687T>A)
n.46T>A
n.2070T>A
c.826T>A (p.Ser276Thr)
17g.6695845C>ACA397744488SLC13A5c.936G>T (p.Leu312Phe)
c.885G>T (p.Leu295Phe)
c.807G>T (p.Leu269Phe)
c.*686G>T (n.*686G>T)
n.45G>T
n.2069G>T
c.825G>T (p.Leu275Phe)
17g.6695845C=CA2245487588SLC13A5c.936G= (p.Leu312=)
c.885G= (p.Leu295=)
c.807G= (p.Leu269=)
c.*686G= (n.*686G=)
n.45G=
n.2069G=
c.825G= (p.Leu275=)
17g.6695845C>GCA397744491SLC13A5c.936G>C (p.Leu312Phe)
c.885G>C (p.Leu295Phe)
c.807G>C (p.Leu269Phe)
c.*686G>C (n.*686G>C)
n.45G>C
n.2069G>C
c.825G>C (p.Leu275Phe)
17g.6695845C>TCA287388178SLC13A5c.936G>A (p.Leu312=)
c.885G>A (p.Leu295=)
c.807G>A (p.Leu269=)
c.*686G>A (n.*686G>A)
n.45G>A
n.2069G>A
c.825G>A (p.Leu275=)
 dbSNP
17g.6695846A>CCA397744495SLC13A5c.935T>G (p.Leu312Trp)
c.884T>G (p.Leu295Trp)
c.806T>G (p.Leu269Trp)
c.*685T>G (n.*685T>G)
n.44T>G
n.2068T>G
c.824T>G (p.Leu275Trp)
17g.6695846A>GCA397744497SLC13A5c.935T>C (p.Leu312Ser)
c.884T>C (p.Leu295Ser)
c.806T>C (p.Leu269Ser)
c.*685T>C (n.*685T>C)
n.44T>C
n.2068T>C
c.824T>C (p.Leu275Ser)
 gnomAD v4
17g.6695846A>TCA397744500SLC13A5c.935T>A (p.Leu312Ter)
c.884T>A (p.Leu295Ter)
c.806T>A (p.Leu269Ter)
c.*685T>A (n.*685T>A)
n.44T>A
n.2068T>A
c.824T>A (p.Leu275Ter)
17g.6695847A>CCA397744510SLC13A5c.934T>G (p.Leu312Val)
c.883T>G (p.Leu295Val)
c.805T>G (p.Leu269Val)
c.*684T>G (n.*684T>G)
n.43T>G
n.2067T>G
c.823T>G (p.Leu275Val)
17g.6695847A>GCA497596311SLC13A5c.934T>C (p.Leu312=)
c.883T>C (p.Leu295=)
c.805T>C (p.Leu269=)
c.*684T>C (n.*684T>C)
n.43T>C
n.2067T>C
c.823T>C (p.Leu275=)
17g.6695847A>TCA397744512SLC13A5c.934T>A (p.Leu312Met)
c.883T>A (p.Leu295Met)
c.805T>A (p.Leu269Met)
c.*684T>A (n.*684T>A)
n.43T>A
n.2067T>A
c.823T>A (p.Leu275Met)
17g.6695848G>ACA497596312SLC13A5c.933C>T (p.Pro311=)
c.882C>T (p.Pro294=)
c.804C>T (p.Pro268=)
c.*683C>T (n.*683C>T)
n.42C>T
n.2066C>T
c.822C>T (p.Pro274=)
 gnomAD v4 COSMIC
17g.6695848G>CCA497596314SLC13A5c.933C>G (p.Pro311=)
c.882C>G (p.Pro294=)
c.804C>G (p.Pro268=)
c.*683C>G (n.*683C>G)
n.42C>G
n.2066C>G
c.822C>G (p.Pro274=)
17g.6695848G=CA2245487589SLC13A5c.933C= (p.Pro311=)
c.882C= (p.Pro294=)
c.804C= (p.Pro268=)
c.*683C= (n.*683C=)
n.42C=
n.2066C=
c.822C= (p.Pro274=)
17g.6695848G>TCA497596313SLC13A5c.933C>A (p.Pro311=)
c.882C>A (p.Pro294=)
c.804C>A (p.Pro268=)
c.*683C>A (n.*683C>A)
n.42C>A
n.2066C>A
c.822C>A (p.Pro274=)
 dbSNP gnomAD v3 gnomAD v4
17g.6695849G>ACA397744516SLC13A5c.932C>T (p.Pro311Leu)
c.881C>T (p.Pro294Leu)
c.803C>T (p.Pro268Leu)
c.*682C>T (n.*682C>T)
n.41C>T
n.2065C>T
c.821C>T (p.Pro274Leu)
17g.6695849G>CCA397744526SLC13A5c.932C>G (p.Pro311Arg)
c.881C>G (p.Pro294Arg)
c.803C>G (p.Pro268Arg)
c.*682C>G (n.*682C>G)
n.41C>G
n.2065C>G
c.821C>G (p.Pro274Arg)
17g.6695849G>TCA397744528SLC13A5c.932C>A (p.Pro311His)
c.881C>A (p.Pro294His)
c.803C>A (p.Pro268His)
c.*682C>A (n.*682C>A)
n.41C>A
n.2065C>A
c.821C>A (p.Pro274His)
17g.6695850G>ACA8331568SLC13A5c.931C>T (p.Pro311Ser)
c.880C>T (p.Pro294Ser)
c.802C>T (p.Pro268Ser)
c.*681C>T (n.*681C>T)
n.40C>T
n.2064C>T
c.820C>T (p.Pro274Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695850G>CCA397744532SLC13A5c.931C>G (p.Pro311Ala)
c.880C>G (p.Pro294Ala)
c.802C>G (p.Pro268Ala)
c.*681C>G (n.*681C>G)
n.40C>G
n.2064C>G
c.820C>G (p.Pro274Ala)
17g.6695850G=CA2245487590SLC13A5c.931C= (p.Pro311=)
c.880C= (p.Pro294=)
c.802C= (p.Pro268=)
c.*681C= (n.*681C=)
n.40C=
n.2064C=
c.820C= (p.Pro274=)
17g.6695850G>TCA397744534SLC13A5c.931C>A (p.Pro311Thr)
c.880C>A (p.Pro294Thr)
c.802C>A (p.Pro268Thr)
c.*681C>A (n.*681C>A)
n.40C>A
n.2064C>A
c.820C>A (p.Pro274Thr)
 dbSNP gnomAD v3 gnomAD v4
17g.6695850_6695851delinsGCCA2245487591SLC13A5c.930_931delinsGC (p.Gly310=)
c.879_880delinsGC (p.Gly293=)
c.801_802delinsGC (p.Gly267=)
c.*680_*681delinsGC (n.*680_*681delinsGC)
n.39_40delinsGC
n.2063_2064delinsGC
c.819_820delinsGC (p.Gly273=)
17g.6695851C>ACA8331569SLC13A5c.930G>T (p.Gly310=)
c.879G>T (p.Gly293=)
c.801G>T (p.Gly267=)
c.*680G>T (n.*680G>T)
n.39G>T
n.2063G>T
c.819G>T (p.Gly273=)
 dbSNP ExAC gnomAD v2
17g.6695851C=CA2245487592SLC13A5c.930G= (p.Gly310=)
c.879G= (p.Gly293=)
c.801G= (p.Gly267=)
c.*680G= (n.*680G=)
n.39G=
n.2063G=
c.819G= (p.Gly273=)
17g.6695851C>GCA497596315SLC13A5c.930G>C (p.Gly310=)
c.879G>C (p.Gly293=)
c.801G>C (p.Gly267=)
c.*680G>C (n.*680G>C)
n.39G>C
n.2063G>C
c.819G>C (p.Gly273=)
17g.6695851C>TCA497596316SLC13A5c.930G>A (p.Gly310=)
c.879G>A (p.Gly293=)
c.801G>A (p.Gly267=)
c.*680G>A (n.*680G>A)
n.39G>A
n.2063G>A
c.819G>A (p.Gly273=)
 dbSNP gnomAD v4
17g.6695854delCA1139665098SLC13A5c.930del (p.Leu312CysfsTer9)
c.879del (p.Leu295CysfsTer9)
c.801del (p.Leu269CysfsTer9)
c.*680del (n.*680del)
n.39del
n.2063del
c.819del (p.Leu275CysfsTer9)
 ClinVar dbSNP gnomAD v4
17g.6695852C>ACA397744544SLC13A5c.929G>T (p.Gly310Val)
c.878G>T (p.Gly293Val)
c.800G>T (p.Gly267Val)
c.*679G>T (n.*679G>T)
n.38G>T
n.2062G>T
c.818G>T (p.Gly273Val)
17g.6695852C=CA2245487593SLC13A5c.929G= (p.Gly310=)
c.878G= (p.Gly293=)
c.800G= (p.Gly267=)
c.*679G= (n.*679G=)
n.38G=
n.2062G=
c.818G= (p.Gly273=)
17g.6695852C>GCA397744536SLC13A5c.929G>C (p.Gly310Ala)
c.878G>C (p.Gly293Ala)
c.800G>C (p.Gly267Ala)
c.*679G>C (n.*679G>C)
n.38G>C
n.2062G>C
c.818G>C (p.Gly273Ala)
17g.6695852C>TCA397744538SLC13A5c.929G>A (p.Gly310Glu)
c.878G>A (p.Gly293Glu)
c.800G>A (p.Gly267Glu)
c.*679G>A (n.*679G>A)
n.38G>A
n.2062G>A
c.818G>A (p.Gly273Glu)
 dbSNP
17g.6695853C>ACA397744547SLC13A5c.928G>T (p.Gly310Trp)
c.877G>T (p.Gly293Trp)
c.799G>T (p.Gly267Trp)
c.*678G>T (n.*678G>T)
n.37G>T
n.2061G>T
c.817G>T (p.Gly273Trp)
17g.6695853C>GCA397744549SLC13A5c.928G>C (p.Gly310Arg)
c.877G>C (p.Gly293Arg)
c.799G>C (p.Gly267Arg)
c.*678G>C (n.*678G>C)
n.37G>C
n.2061G>C
c.817G>C (p.Gly273Arg)
 gnomAD v4
17g.6695853C>TCA397744555SLC13A5c.928G>A (p.Gly310Arg)
c.877G>A (p.Gly293Arg)
c.799G>A (p.Gly267Arg)
c.*678G>A (n.*678G>A)
n.37G>A
n.2061G>A
c.817G>A (p.Gly273Arg)
17g.6695854C>ACA497596317SLC13A5c.927G>T (p.Leu309=)
c.876G>T (p.Leu292=)
c.798G>T (p.Leu266=)
c.*677G>T (n.*677G>T)
n.36G>T
n.2060G>T
c.816G>T (p.Leu272=)
17g.6695854C=CA2245487594SLC13A5c.927G= (p.Leu309=)
c.876G= (p.Leu292=)
c.798G= (p.Leu266=)
c.*677G= (n.*677G=)
n.36G=
n.2060G=
c.816G= (p.Leu272=)
17g.6695854C>GCA497596318SLC13A5c.927G>C (p.Leu309=)
c.876G>C (p.Leu292=)
c.798G>C (p.Leu266=)
c.*677G>C (n.*677G>C)
n.36G>C
n.2060G>C
c.816G>C (p.Leu272=)
17g.6695854C>TCA8331570SLC13A5c.927G>A (p.Leu309=)
c.876G>A (p.Leu292=)
c.798G>A (p.Leu266=)
c.*677G>A (n.*677G>A)
n.36G>A
n.2060G>A
c.816G>A (p.Leu272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695855A>CCA397744560SLC13A5c.926T>G (p.Leu309Arg)
c.875T>G (p.Leu292Arg)
c.797T>G (p.Leu266Arg)
c.*676T>G (n.*676T>G)
n.35T>G
n.2059T>G
c.815T>G (p.Leu272Arg)
17g.6695855A>GCA397744565SLC13A5c.926T>C (p.Leu309Pro)
c.875T>C (p.Leu292Pro)
c.797T>C (p.Leu266Pro)
c.*676T>C (n.*676T>C)
n.35T>C
n.2059T>C
c.815T>C (p.Leu272Pro)
17g.6695855A>TCA397744568SLC13A5c.926T>A (p.Leu309Gln)
c.875T>A (p.Leu292Gln)
c.797T>A (p.Leu266Gln)
c.*676T>A (n.*676T>A)
n.35T>A
n.2059T>A
c.815T>A (p.Leu272Gln)
17g.6695856G>ACA497596319SLC13A5c.925C>T (p.Leu309=)
c.874C>T (p.Leu292=)
c.796C>T (p.Leu266=)
c.*675C>T (n.*675C>T)
n.34C>T
n.2058C>T
c.814C>T (p.Leu272=)
 dbSNP gnomAD v3 gnomAD v4
17g.6695856G>CCA397744570SLC13A5c.925C>G (p.Leu309Val)
c.874C>G (p.Leu292Val)
c.796C>G (p.Leu266Val)
c.*675C>G (n.*675C>G)
n.34C>G
n.2058C>G
c.814C>G (p.Leu272Val)
17g.6695856G=CA2245487595SLC13A5c.925C= (p.Leu309=)
c.874C= (p.Leu292=)
c.796C= (p.Leu266=)
c.*675C= (n.*675C=)
n.34C=
n.2058C=
c.814C= (p.Leu272=)
17g.6695856G>TCA397744573SLC13A5c.925C>A (p.Leu309Met)
c.874C>A (p.Leu292Met)
c.796C>A (p.Leu266Met)
c.*675C>A (n.*675C>A)
n.34C>A
n.2058C>A
c.814C>A (p.Leu272Met)
17g.6695857C>ACA397744575SLC13A5c.924G>T (p.Lys308Asn)
c.873G>T (p.Lys291Asn)
c.795G>T (p.Lys265Asn)
c.*674G>T (n.*674G>T)
n.33G>T
n.2057G>T
c.813G>T (p.Lys271Asn)
17g.6695857C=CA2245487596SLC13A5c.924G= (p.Lys308=)
c.873G= (p.Lys291=)
c.795G= (p.Lys265=)
c.*674G= (n.*674G=)
n.33G=
n.2057G=
c.813G= (p.Lys271=)
17g.6695857C>GCA397744577SLC13A5c.924G>C (p.Lys308Asn)
c.873G>C (p.Lys291Asn)
c.795G>C (p.Lys265Asn)
c.*674G>C (n.*674G>C)
n.33G>C
n.2057G>C
c.813G>C (p.Lys271Asn)
17g.6695857C>TCA497596320SLC13A5c.924G>A (p.Lys308=)
c.873G>A (p.Lys291=)
c.795G>A (p.Lys265=)
c.*674G>A (n.*674G>A)
n.33G>A
n.2057G>A
c.813G>A (p.Lys271=)
17g.6695858T>ACA397744583SLC13A5c.923A>T (p.Lys308Met)
c.872A>T (p.Lys291Met)
c.794A>T (p.Lys265Met)
c.*673A>T (n.*673A>T)
n.32A>T
n.2056A>T
c.812A>T (p.Lys271Met)
17g.6695858T>CCA397744581SLC13A5c.923A>G (p.Lys308Arg)
c.872A>G (p.Lys291Arg)
c.794A>G (p.Lys265Arg)
c.*673A>G (n.*673A>G)
n.32A>G
n.2056A>G
c.812A>G (p.Lys271Arg)
17g.6695858T>GCA397744579SLC13A5c.923A>C (p.Lys308Thr)
c.872A>C (p.Lys291Thr)
c.794A>C (p.Lys265Thr)
c.*673A>C (n.*673A>C)
n.32A>C
n.2056A>C
c.812A>C (p.Lys271Thr)
17g.6695859dupCA287388187SLC13A5c.923dup (p.Leu309AlafsTer?)
c.872dup (p.Leu292AlafsTer?)
c.794dup (p.Leu266AlafsTer?)
c.*673dup (n.*673dup)
n.32dup
n.2056dup
c.812dup (p.Leu272AlafsTer?)
 dbSNP
17g.6695859T>ACA397744585SLC13A5c.922A>T (p.Lys308Ter)
c.871A>T (p.Lys291Ter)
c.793A>T (p.Lys265Ter)
c.*672A>T (n.*672A>T)
n.31A>T
n.2055A>T
c.811A>T (p.Lys271Ter)
17g.6695859T>CCA397744587SLC13A5c.922A>G (p.Lys308Glu)
c.871A>G (p.Lys291Glu)
c.793A>G (p.Lys265Glu)
c.*672A>G (n.*672A>G)
n.31A>G
n.2055A>G
c.811A>G (p.Lys271Glu)
17g.6695859T>GCA397744590SLC13A5c.922A>C (p.Lys308Gln)
c.871A>C (p.Lys291Gln)
c.793A>C (p.Lys265Gln)
c.*672A>C (n.*672A>C)
n.31A>C
n.2055A>C
c.811A>C (p.Lys271Gln)
17g.6695860C>ACA497596321SLC13A5c.921G>T (p.Arg307=)
c.870G>T (p.Arg290=)
c.792G>T (p.Arg264=)
c.*671G>T (n.*671G>T)
n.30G>T
n.2054G>T
c.810G>T (p.Arg270=)
17g.6695860C>GCA497596323SLC13A5c.921G>C (p.Arg307=)
c.870G>C (p.Arg290=)
c.792G>C (p.Arg264=)
c.*671G>C (n.*671G>C)
n.30G>C
n.2054G>C
c.810G>C (p.Arg270=)
17g.6695860C>TCA497596322SLC13A5c.921G>A (p.Arg307=)
c.870G>A (p.Arg290=)
c.792G>A (p.Arg264=)
c.*671G>A (n.*671G>A)
n.30G>A
n.2054G>A
c.810G>A (p.Arg270=)
17g.6695861C>ACA397744592SLC13A5c.920G>T (p.Arg307Leu)
c.869G>T (p.Arg290Leu)
c.791G>T (p.Arg264Leu)
c.*670G>T (n.*670G>T)
n.29G>T
n.2053G>T
c.809G>T (p.Arg270Leu)
17g.6695861C=CA2245487597SLC13A5c.920G= (p.Arg307=)
c.869G= (p.Arg290=)
c.791G= (p.Arg264=)
c.*670G= (n.*670G=)
n.29G=
n.2053G=
c.809G= (p.Arg270=)
17g.6695861C>GCA397744594SLC13A5c.920G>C (p.Arg307Pro)
c.869G>C (p.Arg290Pro)
c.791G>C (p.Arg264Pro)
c.*670G>C (n.*670G>C)
n.29G>C
n.2053G>C
c.809G>C (p.Arg270Pro)
17g.6695861C>TCA8331571SLC13A5c.920G>A (p.Arg307Gln)
c.869G>A (p.Arg290Gln)
c.791G>A (p.Arg264Gln)
c.*670G>A (n.*670G>A)
n.29G>A
n.2053G>A
c.809G>A (p.Arg270Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched