Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.62995692G>TCA2614035194SLC22A8c.1001+12C>A (n.1001+12C>A)
c.632+12C>A (n.632+12C>A)
n.1040C>A
c.728+12C>A (n.728+12C>A)
 gnomAD v4
11g.62995693delCA2614035195SLC22A8c.1001+11del (n.1001+11del)
c.632+11del (n.632+11del)
n.1039del
c.728+11del (n.728+11del)
 gnomAD v4
11g.62995693A=CA1978012860SLC22A8c.1001+11T= (n.1001+11T=)
c.632+11T= (n.632+11T=)
n.1039T=
c.728+11T= (n.728+11T=)
11g.62995693A>GCA599799158SLC22A8c.1001+11T>C (n.1001+11T>C)
c.632+11T>C (n.632+11T>C)
n.1039T>C
c.728+11T>C (n.728+11T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.62995693_62995694delinsAGCA1978012859SLC22A8c.1001+10_1001+11delinsCT (n.1001+10_1001+11delinsCT)
c.632+10_632+11delinsCT (n.632+10_632+11delinsCT)
n.1038_1039delinsCT
c.728+10_728+11delinsCT (n.728+10_728+11delinsCT)
11g.62995694G>ACA6059747SLC22A8c.1001+10C>T (n.1001+10C>T)
c.632+10C>T (n.632+10C>T)
n.1038C>T
c.728+10C>T (n.728+10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62995694G>CCA2614035196SLC22A8c.1001+10C>G (n.1001+10C>G)
c.632+10C>G (n.632+10C>G)
n.1038C>G
c.728+10C>G (n.728+10C>G)
 gnomAD v4
11g.62995694G=CA1978012861SLC22A8c.1001+10C= (n.1001+10C=)
c.632+10C= (n.632+10C=)
n.1038C=
c.728+10C= (n.728+10C=)
11g.62995694G>TCA6059748SLC22A8c.1001+10C>A (n.1001+10C>A)
c.632+10C>A (n.632+10C>A)
n.1038C>A
c.728+10C>A (n.728+10C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995699dupCA2792377654SLC22A8c.1001+10dup (n.1001+10dup)
c.632+10dup (n.632+10dup)
n.1038dup
c.728+10dup (n.728+10dup)
11g.62995699delCA599799159SLC22A8c.1001+10del (n.1001+10del)
c.632+10del (n.632+10del)
n.1038del
c.728+10del (n.728+10del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62995695G>ACA1978012863SLC22A8c.1001+9C>T (n.1001+9C>T)
c.632+9C>T (n.632+9C>T)
n.1037C>T
c.728+9C>T (n.728+9C>T)
 dbSNP gnomAD v4
11g.62995695G=CA1978012862SLC22A8c.1001+9C= (n.1001+9C=)
c.632+9C= (n.632+9C=)
n.1037C=
c.728+9C= (n.728+9C=)
11g.62995695G>TCA938742232SLC22A8c.1001+9C>A (n.1001+9C>A)
c.632+9C>A (n.632+9C>A)
n.1037C>A
c.728+9C>A (n.728+9C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.62995696G>ACA6059749SLC22A8c.1001+8C>T (n.1001+8C>T)
c.632+8C>T (n.632+8C>T)
n.1036C>T
c.728+8C>T (n.728+8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.62995696G=CA1978012864SLC22A8c.1001+8C= (n.1001+8C=)
c.632+8C= (n.632+8C=)
n.1036C=
c.728+8C= (n.728+8C=)
11g.62995696G>TCA2614035197SLC22A8c.1001+8C>A (n.1001+8C>A)
c.632+8C>A (n.632+8C>A)
n.1036C>A
c.728+8C>A (n.728+8C>A)
 gnomAD v4
11g.62995697G>ACA2614035198SLC22A8c.1001+7C>T (n.1001+7C>T)
c.632+7C>T (n.632+7C>T)
n.1035C>T
c.728+7C>T (n.728+7C>T)
 gnomAD v4
11g.62995698G>ACA2614035199SLC22A8c.1001+6C>T (n.1001+6C>T)
c.632+6C>T (n.632+6C>T)
n.1034C>T
c.728+6C>T (n.728+6C>T)
 gnomAD v4
11g.62995698G>CCA599799160SLC22A8c.1001+6C>G (n.1001+6C>G)
c.632+6C>G (n.632+6C>G)
n.1034C>G
c.728+6C>G (n.728+6C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.62995698G=CA1978012865SLC22A8c.1001+6C= (n.1001+6C=)
c.632+6C= (n.632+6C=)
n.1034C=
c.728+6C= (n.728+6C=)
11g.62995698G>TCA2574853367SLC22A8c.1001+6C>A (n.1001+6C>A)
c.632+6C>A (n.632+6C>A)
n.1034C>A
c.728+6C>A (n.728+6C>A)
 gnomAD v4
11g.62995699G=CA1978012866SLC22A8c.1001+5C= (n.1001+5C=)
c.632+5C= (n.632+5C=)
n.1033C=
c.728+5C= (n.728+5C=)
11g.62995699G>TCA6059750SLC22A8c.1001+5C>A (n.1001+5C>A)
c.632+5C>A (n.632+5C>A)
n.1033C>A
c.728+5C>A (n.728+5C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995700T>GCA1978012868SLC22A8c.1001+4A>C (n.1001+4A>C)
c.632+4A>C (n.632+4A>C)
n.1032A>C
c.728+4A>C (n.728+4A>C)
 dbSNP
11g.62995700T=CA1978012867SLC22A8c.1001+4A= (n.1001+4A=)
c.632+4A= (n.632+4A=)
n.1032A=
c.728+4A= (n.728+4A=)
11g.62995701T>CCA2614035200SLC22A8c.1001+3A>G (n.1001+3A>G)
c.632+3A>G (n.632+3A>G)
n.1031A>G
c.728+3A>G (n.728+3A>G)
 gnomAD v4
11g.62995702A=CA1978012869SLC22A8c.1001+2T= (n.1001+2T=)
c.632+2T= (n.632+2T=)
n.1030T=
c.728+2T= (n.728+2T=)
11g.62995702A>CCA380981836SLC22A8c.1001+2T>G (n.1001+2T>G)
c.632+2T>G (n.632+2T>G)
n.1030T>G
c.728+2T>G (n.728+2T>G)
11g.62995702A>GCA223623415SLC22A8c.1001+2T>C (n.1001+2T>C)
c.632+2T>C (n.632+2T>C)
n.1030T>C
c.728+2T>C (n.728+2T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.62995702A>TCA380981839SLC22A8c.1001+2T>A (n.1001+2T>A)
c.632+2T>A (n.632+2T>A)
n.1030T>A
c.728+2T>A (n.728+2T>A)
11g.62995703C>ACA380981843SLC22A8c.1001+1G>T (n.1001+1G>T)
c.632+1G>T (n.632+1G>T)
n.1029G>T
c.728+1G>T (n.728+1G>T)
 dbSNP gnomAD v2
11g.62995703C=CA1978012870SLC22A8c.1001+1G= (n.1001+1G=)
c.632+1G= (n.632+1G=)
n.1029G=
c.728+1G= (n.728+1G=)
11g.62995703C>GCA380981845SLC22A8c.1001+1G>C (n.1001+1G>C)
c.632+1G>C (n.632+1G>C)
n.1029G>C
c.728+1G>C (n.728+1G>C)
11g.62995703C>TCA380981847SLC22A8c.1001+1G>A (n.1001+1G>A)
c.632+1G>A (n.632+1G>A)
n.1029G>A
c.728+1G>A (n.728+1G>A)
11g.62995704C>ACA380981851SLC22A8c.1001G>T (p.Trp334Leu)
c.632G>T (p.Trp211Leu)
n.1028G>T
c.728G>T (p.Trp243Leu)
11g.62995704C>GCA380981852SLC22A8c.1001G>C (p.Trp334Ser)
c.632G>C (p.Trp211Ser)
n.1028G>C
c.728G>C (p.Trp243Ser)
11g.62995704C>TCA380981855SLC22A8c.1001G>A (p.Trp334Ter)
c.632G>A (p.Trp211Ter)
n.1028G>A
c.728G>A (p.Trp243Ter)
11g.62995705A>CCA380981856SLC22A8c.1000T>G (p.Trp334Gly)
c.631T>G (p.Trp211Gly)
n.1027T>G
c.727T>G (p.Trp243Gly)
11g.62995705A>GCA380981858SLC22A8c.1000T>C (p.Trp334Arg)
c.631T>C (p.Trp211Arg)
n.1027T>C
c.727T>C (p.Trp243Arg)
11g.62995705A>TCA380981861SLC22A8c.1000T>A (p.Trp334Arg)
c.631T>A (p.Trp211Arg)
n.1027T>A
c.727T>A (p.Trp243Arg)
11g.62995706G>ACA475140496SLC22A8c.999C>T (p.Ala333=)
c.630C>T (p.Ala210=)
n.1026C>T
c.726C>T (p.Ala242=)
11g.62995706G>CCA475140497SLC22A8c.999C>G (p.Ala333=)
c.630C>G (p.Ala210=)
n.1026C>G
c.726C>G (p.Ala242=)
11g.62995706G>TCA475140498SLC22A8c.999C>A (p.Ala333=)
c.630C>A (p.Ala210=)
n.1026C>A
c.726C>A (p.Ala242=)
11g.62995707G>ACA380981869SLC22A8c.998C>T (p.Ala333Val)
c.629C>T (p.Ala210Val)
n.1025C>T
c.725C>T (p.Ala242Val)
11g.62995707G>CCA380981867SLC22A8c.998C>G (p.Ala333Gly)
c.629C>G (p.Ala210Gly)
n.1025C>G
c.725C>G (p.Ala242Gly)
11g.62995707G=CA1978012871SLC22A8c.998C= (p.Ala333=)
c.629C= (p.Ala210=)
n.1025C=
c.725C= (p.Ala242=)
11g.62995707G>TCA380981865SLC22A8c.998C>A (p.Ala333Asp)
c.629C>A (p.Ala210Asp)
n.1025C>A
c.725C>A (p.Ala242Asp)
 dbSNP gnomAD v4
11g.62995708C>ACA380981872SLC22A8c.997G>T (p.Ala333Ser)
c.628G>T (p.Ala210Ser)
n.1024G>T
c.724G>T (p.Ala242Ser)
11g.62995708C>GCA380981874SLC22A8c.997G>C (p.Ala333Pro)
c.628G>C (p.Ala210Pro)
n.1024G>C
c.724G>C (p.Ala242Pro)
11g.62995708C>TCA380981876SLC22A8c.997G>A (p.Ala333Thr)
c.628G>A (p.Ala210Thr)
n.1024G>A
c.724G>A (p.Ala242Thr)
11g.62995709C>ACA475140504SLC22A8c.996G>T (p.Leu332=)
c.627G>T (p.Leu209=)
n.1023G>T
c.723G>T (p.Leu241=)
11g.62995709C>GCA475140503SLC22A8c.996G>C (p.Leu332=)
c.627G>C (p.Leu209=)
n.1023G>C
c.723G>C (p.Leu241=)
11g.62995709C>TCA475140502SLC22A8c.996G>A (p.Leu332=)
c.627G>A (p.Leu209=)
n.1023G>A
c.723G>A (p.Leu241=)
11g.62995710A>CCA380981879SLC22A8c.995T>G (p.Leu332Arg)
c.626T>G (p.Leu209Arg)
n.1022T>G
c.722T>G (p.Leu241Arg)
11g.62995710A>GCA380981882SLC22A8c.995T>C (p.Leu332Pro)
c.626T>C (p.Leu209Pro)
n.1022T>C
c.722T>C (p.Leu241Pro)
11g.62995710A>TCA380981884SLC22A8c.995T>A (p.Leu332Gln)
c.626T>A (p.Leu209Gln)
n.1022T>A
c.722T>A (p.Leu241Gln)
11g.62995711G>ACA475140505SLC22A8c.994C>T (p.Leu332=)
c.625C>T (p.Leu209=)
n.1021C>T
c.721C>T (p.Leu241=)
 dbSNP gnomAD v2 gnomAD v4
11g.62995711G>CCA6059751SLC22A8c.994C>G (p.Leu332Val)
c.625C>G (p.Leu209Val)
n.1021C>G
c.721C>G (p.Leu241Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995711G=CA1978012872SLC22A8c.994C= (p.Leu332=)
c.625C= (p.Leu209=)
n.1021C=
c.721C= (p.Leu241=)
11g.62995711G>TCA380981887SLC22A8c.994C>A (p.Leu332Met)
c.625C>A (p.Leu209Met)
n.1021C>A
c.721C>A (p.Leu241Met)
11g.62995712G>ACA6059752SLC22A8c.993C>T (p.Ser331=)
c.624C>T (p.Ser208=)
n.1020C>T
c.720C>T (p.Ser240=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62995712G>CCA475140507SLC22A8c.993C>G (p.Ser331=)
c.624C>G (p.Ser208=)
n.1020C>G
c.720C>G (p.Ser240=)
11g.62995712G=CA1978012873SLC22A8c.993C= (p.Ser331=)
c.624C= (p.Ser208=)
n.1020C=
c.720C= (p.Ser240=)
11g.62995712G>TCA475140509SLC22A8c.993C>A (p.Ser331=)
c.624C>A (p.Ser208=)
n.1020C>A
c.720C>A (p.Ser240=)
11g.62995713G>ACA6059754SLC22A8c.992C>T (p.Ser331Phe)
c.623C>T (p.Ser208Phe)
n.1019C>T
c.719C>T (p.Ser240Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995713G>CCA380981892SLC22A8c.992C>G (p.Ser331Cys)
c.623C>G (p.Ser208Cys)
n.1019C>G
c.719C>G (p.Ser240Cys)
11g.62995713G=CA1978012874SLC22A8c.992C= (p.Ser331=)
c.623C= (p.Ser208=)
n.1019C=
c.719C= (p.Ser240=)
11g.62995713G>TCA380981894SLC22A8c.992C>A (p.Ser331Tyr)
c.623C>A (p.Ser208Tyr)
n.1019C>A
c.719C>A (p.Ser240Tyr)
11g.62995713_62995714delinsGACA1978012875SLC22A8c.991_992delinsTC (p.Ser331=)
c.622_623delinsTC (p.Ser208=)
n.1018_1019delinsTC
c.718_719delinsTC (p.Ser240=)
11g.62995714A>CCA380981902SLC22A8c.991T>G (p.Ser331Ala)
c.622T>G (p.Ser208Ala)
n.1018T>G
c.718T>G (p.Ser240Ala)
11g.62995714A>GCA380981904SLC22A8c.991T>C (p.Ser331Pro)
c.622T>C (p.Ser208Pro)
n.1018T>C
c.718T>C (p.Ser240Pro)
11g.62995714A>TCA380981900SLC22A8c.991T>A (p.Ser331Thr)
c.622T>A (p.Ser208Thr)
n.1018T>A
c.718T>A (p.Ser240Thr)
11g.62995716delCA6059753SLC22A8c.991del (p.Ser331ProfsTer?)
c.622del (p.Ser208ProfsTer?)
n.1018del
c.718del (p.Ser240ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995715A>CCA475140513SLC22A8c.990T>G (p.Leu330=)
c.621T>G (p.Leu207=)
n.1017T>G
c.717T>G (p.Leu239=)
11g.62995715A>GCA475140512SLC22A8c.990T>C (p.Leu330=)
c.621T>C (p.Leu207=)
n.1017T>C
c.717T>C (p.Leu239=)
11g.62995715A>TCA475140511SLC22A8c.990T>A (p.Leu330=)
c.621T>A (p.Leu207=)
n.1017T>A
c.717T>A (p.Leu239=)
11g.62995716A>CCA380981910SLC22A8c.989T>G (p.Leu330Arg)
c.620T>G (p.Leu207Arg)
n.1016T>G
c.716T>G (p.Leu239Arg)
11g.62995716A>GCA380981907SLC22A8c.989T>C (p.Leu330Pro)
c.620T>C (p.Leu207Pro)
n.1016T>C
c.716T>C (p.Leu239Pro)
11g.62995716A>TCA380981908SLC22A8c.989T>A (p.Leu330His)
c.620T>A (p.Leu207His)
n.1016T>A
c.716T>A (p.Leu239His)
11g.62995717G>ACA380981912SLC22A8c.988C>T (p.Leu330Phe)
c.619C>T (p.Leu207Phe)
n.1015C>T
c.715C>T (p.Leu239Phe)
11g.62995717G>CCA380981915SLC22A8c.988C>G (p.Leu330Val)
c.619C>G (p.Leu207Val)
n.1015C>G
c.715C>G (p.Leu239Val)
 dbSNP gnomAD v2 gnomAD v4
11g.62995717G=CA1978012876SLC22A8c.988C= (p.Leu330=)
c.619C= (p.Leu207=)
n.1015C=
c.715C= (p.Leu239=)
11g.62995717G>TCA380981917SLC22A8c.988C>A (p.Leu330Ile)
c.619C>A (p.Leu207Ile)
n.1015C>A
c.715C>A (p.Leu239Ile)
11g.62995718A>CCA380981918SLC22A8c.987T>G (p.Cys329Trp)
c.618T>G (p.Cys206Trp)
n.1014T>G
c.714T>G (p.Cys238Trp)
11g.62995718A>GCA475140520SLC22A8c.987T>C (p.Cys329=)
c.618T>C (p.Cys206=)
n.1014T>C
c.714T>C (p.Cys238=)
11g.62995718A>TCA380981920SLC22A8c.987T>A (p.Cys329Ter)
c.618T>A (p.Cys206Ter)
n.1014T>A
c.714T>A (p.Cys238Ter)
11g.62995719C>ACA380981922SLC22A8c.986G>T (p.Cys329Phe)
c.617G>T (p.Cys206Phe)
n.1013G>T
c.713G>T (p.Cys238Phe)
 gnomAD v4
11g.62995719C=CA1978012877SLC22A8c.986G= (p.Cys329=)
c.617G= (p.Cys206=)
n.1013G=
c.713G= (p.Cys238=)
11g.62995719C>GCA380981925SLC22A8c.986G>C (p.Cys329Ser)
c.617G>C (p.Cys206Ser)
n.1013G>C
c.713G>C (p.Cys238Ser)
 dbSNP
11g.62995719C>TCA380981927SLC22A8c.986G>A (p.Cys329Tyr)
c.617G>A (p.Cys206Tyr)
n.1013G>A
c.713G>A (p.Cys238Tyr)
 dbSNP gnomAD v4
11g.62995720A>CCA380981930SLC22A8c.985T>G (p.Cys329Gly)
c.616T>G (p.Cys206Gly)
n.1012T>G
c.712T>G (p.Cys238Gly)
11g.62995720A>GCA380981932SLC22A8c.985T>C (p.Cys329Arg)
c.616T>C (p.Cys206Arg)
n.1012T>C
c.712T>C (p.Cys238Arg)
11g.62995720A>TCA380981934SLC22A8c.985T>A (p.Cys329Ser)
c.616T>A (p.Cys206Ser)
n.1012T>A
c.712T>A (p.Cys238Ser)
11g.62995721G>ACA475140523SLC22A8c.984C>T (p.Phe328=)
c.615C>T (p.Phe205=)
n.1011C>T
c.711C>T (p.Phe237=)
11g.62995721G>CCA380981937SLC22A8c.984C>G (p.Phe328Leu)
c.615C>G (p.Phe205Leu)
n.1011C>G
c.711C>G (p.Phe237Leu)
11g.62995721G>TCA380981939SLC22A8c.984C>A (p.Phe328Leu)
c.615C>A (p.Phe205Leu)
n.1011C>A
c.711C>A (p.Phe237Leu)
11g.62995722A>CCA380981944SLC22A8c.983T>G (p.Phe328Cys)
c.614T>G (p.Phe205Cys)
n.1010T>G
c.710T>G (p.Phe237Cys)
11g.62995722A>GCA380981945SLC22A8c.983T>C (p.Phe328Ser)
c.614T>C (p.Phe205Ser)
n.1010T>C
c.710T>C (p.Phe237Ser)
11g.62995722A>TCA380981948SLC22A8c.983T>A (p.Phe328Tyr)
c.614T>A (p.Phe205Tyr)
n.1010T>A
c.710T>A (p.Phe237Tyr)
11g.62995723A>CCA380981951SLC22A8c.982T>G (p.Phe328Val)
c.613T>G (p.Phe205Val)
n.1009T>G
c.709T>G (p.Phe237Val)
11g.62995723A>GCA380981953SLC22A8c.982T>C (p.Phe328Leu)
c.613T>C (p.Phe205Leu)
n.1009T>C
c.709T>C (p.Phe237Leu)
11g.62995723A>TCA380981955SLC22A8c.982T>A (p.Phe328Ile)
c.613T>A (p.Phe205Ile)
n.1009T>A
c.709T>A (p.Phe237Ile)
11g.62995724G>ACA475140529SLC22A8c.981C>T (p.Thr327=)
c.612C>T (p.Thr204=)
n.1008C>T
c.708C>T (p.Thr236=)
 dbSNP gnomAD v4
11g.62995724G>CCA475140530SLC22A8c.981C>G (p.Thr327=)
c.612C>G (p.Thr204=)
n.1008C>G
c.708C>G (p.Thr236=)
11g.62995724G=CA1978012878SLC22A8c.981C= (p.Thr327=)
c.612C= (p.Thr204=)
n.1008C=
c.708C= (p.Thr236=)
11g.62995724G>TCA475140531SLC22A8c.981C>A (p.Thr327=)
c.612C>A (p.Thr204=)
n.1008C>A
c.708C>A (p.Thr236=)
11g.62995725G>ACA6059755SLC22A8c.980C>T (p.Thr327Ile)
c.611C>T (p.Thr204Ile)
n.1007C>T
c.707C>T (p.Thr236Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995725G>CCA380981960SLC22A8c.980C>G (p.Thr327Ser)
c.611C>G (p.Thr204Ser)
n.1007C>G
c.707C>G (p.Thr236Ser)
11g.62995725G=CA1978012879SLC22A8c.980C= (p.Thr327=)
c.611C= (p.Thr204=)
n.1007C=
c.707C= (p.Thr236=)
11g.62995725G>TCA380981962SLC22A8c.980C>A (p.Thr327Asn)
c.611C>A (p.Thr204Asn)
n.1007C>A
c.707C>A (p.Thr236Asn)
11g.62995726T>ACA380981967SLC22A8c.979A>T (p.Thr327Ser)
c.610A>T (p.Thr204Ser)
n.1006A>T
c.706A>T (p.Thr236Ser)
11g.62995726T>CCA380981969SLC22A8c.979A>G (p.Thr327Ala)
c.610A>G (p.Thr204Ala)
n.1006A>G
c.706A>G (p.Thr236Ala)
11g.62995726T>GCA380981970SLC22A8c.979A>C (p.Thr327Pro)
c.610A>C (p.Thr204Pro)
n.1006A>C
c.706A>C (p.Thr236Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62995726T=CA1978012880SLC22A8c.979A= (p.Thr327=)
c.610A= (p.Thr204=)
n.1006A=
c.706A= (p.Thr236=)
11g.62995727C>ACA380981974SLC22A8c.978G>T (p.Met326Ile)
c.609G>T (p.Met203Ile)
n.1005G>T
c.705G>T (p.Met235Ile)
11g.62995727C>GCA380981976SLC22A8c.978G>C (p.Met326Ile)
c.609G>C (p.Met203Ile)
n.1005G>C
c.705G>C (p.Met235Ile)
11g.62995727C>TCA380981972SLC22A8c.978G>A (p.Met326Ile)
c.609G>A (p.Met203Ile)
n.1005G>A
c.705G>A (p.Met235Ile)
 COSMIC
11g.62995728A=CA1978012881SLC22A8c.977T= (p.Met326=)
c.608T= (p.Met203=)
n.1004T=
c.704T= (p.Met235=)
11g.62995728A>CCA380981981SLC22A8c.977T>G (p.Met326Arg)
c.608T>G (p.Met203Arg)
n.1004T>G
c.704T>G (p.Met235Arg)
11g.62995728A>GCA380981983SLC22A8c.977T>C (p.Met326Thr)
c.608T>C (p.Met203Thr)
n.1004T>C
c.704T>C (p.Met235Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.62995728A>TCA380981985SLC22A8c.977T>A (p.Met326Lys)
c.608T>A (p.Met203Lys)
n.1004T>A
c.704T>A (p.Met235Lys)
11g.62995729T>ACA380981987SLC22A8c.976A>T (p.Met326Leu)
c.607A>T (p.Met203Leu)
n.1003A>T
c.703A>T (p.Met235Leu)
11g.62995729T>CCA380981989SLC22A8c.976A>G (p.Met326Val)
c.607A>G (p.Met203Val)
n.1003A>G
c.703A>G (p.Met235Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62995729T>GCA380981991SLC22A8c.976A>C (p.Met326Leu)
c.607A>C (p.Met203Leu)
n.1003A>C
c.703A>C (p.Met235Leu)
 gnomAD v4
11g.62995729T=CA1978012882SLC22A8c.976A= (p.Met326=)
c.607A= (p.Met203=)
n.1003A=
c.703A= (p.Met235=)
11g.62995730G>ACA475140537SLC22A8c.975C>T (p.Arg325=)
c.606C>T (p.Arg202=)
n.1002C>T
c.702C>T (p.Arg234=)
11g.62995730G>CCA475140536SLC22A8c.975C>G (p.Arg325=)
c.606C>G (p.Arg202=)
n.1002C>G
c.702C>G (p.Arg234=)
11g.62995730G>TCA475140535SLC22A8c.975C>A (p.Arg325=)
c.606C>A (p.Arg202=)
n.1002C>A
c.702C>A (p.Arg234=)
11g.62995731C>ACA380981994SLC22A8c.974G>T (p.Arg325Leu)
c.605G>T (p.Arg202Leu)
n.1001G>T
c.701G>T (p.Arg234Leu)
 gnomAD v4
11g.62995731C=CA1978012883SLC22A8c.974G= (p.Arg325=)
c.605G= (p.Arg202=)
n.1001G=
c.701G= (p.Arg234=)
11g.62995731C>GCA380981996SLC22A8c.974G>C (p.Arg325Pro)
c.605G>C (p.Arg202Pro)
n.1001G>C
c.701G>C (p.Arg234Pro)
 COSMIC
11g.62995731C>TCA6059756SLC22A8c.974G>A (p.Arg325His)
c.605G>A (p.Arg202His)
n.1001G>A
c.701G>A (p.Arg234His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.62995732G>ACA380982001SLC22A8c.973C>T (p.Arg325Cys)
c.604C>T (p.Arg202Cys)
n.1000C>T
c.700C>T (p.Arg234Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62995732G>CCA380982003SLC22A8c.973C>G (p.Arg325Gly)
c.604C>G (p.Arg202Gly)
n.1000C>G
c.700C>G (p.Arg234Gly)
11g.62995732G=CA1978012884SLC22A8c.973C= (p.Arg325=)
c.604C= (p.Arg202=)
n.1000C=
c.700C= (p.Arg234=)
11g.62995732G>TCA380982004SLC22A8c.973C>A (p.Arg325Ser)
c.604C>A (p.Arg202Ser)
n.1000C>A
c.700C>A (p.Arg234Ser)
11g.62995733G>ACA475140544SLC22A8c.972C>T (p.Arg324=)
c.603C>T (p.Arg201=)
n.999C>T
c.699C>T (p.Arg233=)
 gnomAD v4
11g.62995733G>CCA475140543SLC22A8c.972C>G (p.Arg324=)
c.603C>G (p.Arg201=)
n.999C>G
c.699C>G (p.Arg233=)
11g.62995733G>TCA475140542SLC22A8c.972C>A (p.Arg324=)
c.603C>A (p.Arg201=)
n.999C>A
c.699C>A (p.Arg233=)
11g.62995734C>ACA380982008SLC22A8c.971G>T (p.Arg324Leu)
c.602G>T (p.Arg201Leu)
n.998G>T
c.698G>T (p.Arg233Leu)
11g.62995734C=CA1978012885SLC22A8c.971G= (p.Arg324=)
c.602G= (p.Arg201=)
n.998G=
c.698G= (p.Arg233=)
11g.62995734C>GCA380982011SLC22A8c.971G>C (p.Arg324Pro)
c.602G>C (p.Arg201Pro)
n.998G>C
c.698G>C (p.Arg233Pro)
11g.62995734C>TCA6059757SLC22A8c.971G>A (p.Arg324His)
c.602G>A (p.Arg201His)
n.998G>A
c.698G>A (p.Arg233His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.62995735G>ACA6059758SLC22A8c.970C>T (p.Arg324Cys)
c.601C>T (p.Arg201Cys)
n.997C>T
c.697C>T (p.Arg233Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62995735G>CCA380982015SLC22A8c.970C>G (p.Arg324Gly)
c.601C>G (p.Arg201Gly)
n.997C>G
c.697C>G (p.Arg233Gly)
 gnomAD v4
11g.62995735G=CA1978012886SLC22A8c.970C= (p.Arg324=)
c.601C= (p.Arg201=)
n.997C=
c.697C= (p.Arg233=)
11g.62995735G>TCA380982017SLC22A8c.970C>A (p.Arg324Ser)
c.601C>A (p.Arg201Ser)
n.997C>A
c.697C>A (p.Arg233Ser)
11g.62995736C>ACA475140546SLC22A8c.969G>T (p.Leu323=)
c.600G>T (p.Leu200=)
n.996G>T
c.696G>T (p.Leu232=)
11g.62995736C>GCA475140548SLC22A8c.969G>C (p.Leu323=)
c.600G>C (p.Leu200=)
n.996G>C
c.696G>C (p.Leu232=)
11g.62995736C>TCA475140547SLC22A8c.969G>A (p.Leu323=)
c.600G>A (p.Leu200=)
n.996G>A
c.696G>A (p.Leu232=)
11g.62995737A>CCA380982020SLC22A8c.968T>G (p.Leu323Arg)
c.599T>G (p.Leu200Arg)
n.995T>G
c.695T>G (p.Leu232Arg)
11g.62995737A>GCA380982022SLC22A8c.968T>C (p.Leu323Pro)
c.599T>C (p.Leu200Pro)
n.995T>C
c.695T>C (p.Leu232Pro)
 gnomAD v4
11g.62995737A>TCA380982025SLC22A8c.968T>A (p.Leu323Gln)
c.599T>A (p.Leu200Gln)
n.995T>A
c.695T>A (p.Leu232Gln)
11g.62995738G>ACA475140550SLC22A8c.967C>T (p.Leu323=)
c.598C>T (p.Leu200=)
n.994C>T
c.694C>T (p.Leu232=)
11g.62995738G>CCA380982031SLC22A8c.967C>G (p.Leu323Val)
c.598C>G (p.Leu200Val)
n.994C>G
c.694C>G (p.Leu232Val)
11g.62995738G>TCA380982028SLC22A8c.967C>A (p.Leu323Met)
c.598C>A (p.Leu200Met)
n.994C>A
c.694C>A (p.Leu232Met)
11g.62995739C>ACA380982033SLC22A8c.966G>T (p.Met322Ile)
c.597G>T (p.Met199Ile)
n.993G>T
c.693G>T (p.Met231Ile)
 COSMIC
11g.62995739C=CA1978012887SLC22A8c.966G= (p.Met322=)
c.597G= (p.Met199=)
n.993G=
c.693G= (p.Met231=)
11g.62995739C>GCA380982034SLC22A8c.966G>C (p.Met322Ile)
c.597G>C (p.Met199Ile)
n.993G>C
c.693G>C (p.Met231Ile)
11g.62995739C>TCA223623471SLC22A8c.966G>A (p.Met322Ile)
c.597G>A (p.Met199Ile)
n.993G>A
c.693G>A (p.Met231Ile)
 dbSNP gnomAD v4
11g.62995740A=CA1978012888SLC22A8c.965T= (p.Met322=)
c.596T= (p.Met199=)
n.992T=
c.692T= (p.Met231=)
11g.62995740A>CCA380982037SLC22A8c.965T>G (p.Met322Arg)
c.596T>G (p.Met199Arg)
n.992T>G
c.692T>G (p.Met231Arg)
11g.62995740A>GCA380982040SLC22A8c.965T>C (p.Met322Thr)
c.596T>C (p.Met199Thr)
n.992T>C
c.692T>C (p.Met231Thr)
 dbSNP gnomAD v4
11g.62995740A>TCA380982043SLC22A8c.965T>A (p.Met322Lys)
c.596T>A (p.Met199Lys)
n.992T>A
c.692T>A (p.Met231Lys)
11g.62995741T>ACA380982046SLC22A8c.964A>T (p.Met322Leu)
c.595A>T (p.Met199Leu)
n.991A>T
c.691A>T (p.Met231Leu)
 dbSNP
11g.62995741T>CCA380982049SLC22A8c.964A>G (p.Met322Val)
c.595A>G (p.Met199Val)
n.991A>G
c.691A>G (p.Met231Val)
 gnomAD v4
11g.62995741T>GCA380982047SLC22A8c.964A>C (p.Met322Leu)
c.595A>C (p.Met199Leu)
n.991A>C
c.691A>C (p.Met231Leu)
11g.62995741T=CA1978012889SLC22A8c.964A= (p.Met322=)
c.595A= (p.Met199=)
n.991A=
c.691A= (p.Met231=)
11g.62995742G>ACA475140555SLC22A8c.963C>T (p.Pro321=)
c.594C>T (p.Pro198=)
n.990C>T
c.690C>T (p.Pro230=)
 gnomAD v4
11g.62995742G>CCA475140556SLC22A8c.963C>G (p.Pro321=)
c.594C>G (p.Pro198=)
n.990C>G
c.690C>G (p.Pro230=)
11g.62995742G>TCA475140558SLC22A8c.963C>A (p.Pro321=)
c.594C>A (p.Pro198=)
n.990C>A
c.690C>A (p.Pro230=)
11g.62995743G>ACA380982052SLC22A8c.962C>T (p.Pro321Leu)
c.593C>T (p.Pro198Leu)
n.989C>T
c.689C>T (p.Pro230Leu)
11g.62995743G>CCA380982056SLC22A8c.962C>G (p.Pro321Arg)
c.593C>G (p.Pro198Arg)
n.989C>G
c.689C>G (p.Pro230Arg)
11g.62995743G>TCA380982054SLC22A8c.962C>A (p.Pro321His)
c.593C>A (p.Pro198His)
n.989C>A
c.689C>A (p.Pro230His)
11g.62995744G>ACA380982059SLC22A8c.961C>T (p.Pro321Ser)
c.592C>T (p.Pro198Ser)
n.988C>T
c.688C>T (p.Pro230Ser)
 gnomAD v4
11g.62995744G>CCA380982064SLC22A8c.961C>G (p.Pro321Ala)
c.592C>G (p.Pro198Ala)
n.988C>G
c.688C>G (p.Pro230Ala)
11g.62995744G>TCA380982062SLC22A8c.961C>A (p.Pro321Thr)
c.592C>A (p.Pro198Thr)
n.988C>A
c.688C>A (p.Pro230Thr)
11g.62995745T>ACA475140563SLC22A8c.960A>T (p.Ile320=)
c.591A>T (p.Ile197=)
n.987A>T
c.687A>T (p.Ile229=)
11g.62995745T>CCA380982066SLC22A8c.960A>G (p.Ile320Met)
c.591A>G (p.Ile197Met)
n.987A>G
c.687A>G (p.Ile229Met)
11g.62995745T>GCA475140564SLC22A8c.960A>C (p.Ile320=)
c.591A>C (p.Ile197=)
n.987A>C
c.687A>C (p.Ile229=)
11g.62995746A=CA1978012890SLC22A8c.959T= (p.Ile320=)
c.590T= (p.Ile197=)
n.986T=
c.686T= (p.Ile229=)
11g.62995746A>CCA380982072SLC22A8c.959T>G (p.Ile320Arg)
c.590T>G (p.Ile197Arg)
n.986T>G
c.686T>G (p.Ile229Arg)
 gnomAD v4
11g.62995746A>GCA6059759SLC22A8c.959T>C (p.Ile320Thr)
c.590T>C (p.Ile197Thr)
n.986T>C
c.686T>C (p.Ile229Thr)
 dbSNP ExAC gnomAD v2
11g.62995746A>TCA380982070SLC22A8c.959T>A (p.Ile320Lys)
c.590T>A (p.Ile197Lys)
n.986T>A
c.686T>A (p.Ile229Lys)
11g.62995747T>ACA380982074SLC22A8c.958A>T (p.Ile320Leu)
c.589A>T (p.Ile197Leu)
n.985A>T
c.685A>T (p.Ile229Leu)
11g.62995747T>CCA380982075SLC22A8c.958A>G (p.Ile320Val)
c.589A>G (p.Ile197Val)
n.985A>G
c.685A>G (p.Ile229Val)
11g.62995747T>GCA380982077SLC22A8c.958A>C (p.Ile320Leu)
c.589A>C (p.Ile197Leu)
n.985A>C
c.685A>C (p.Ile229Leu)
11g.62995748C>ACA475140569SLC22A8c.957G>T (p.Arg319=)
c.588G>T (p.Arg196=)
n.984G>T
c.684G>T (p.Arg228=)
11g.62995748C>GCA475140570SLC22A8c.957G>C (p.Arg319=)
c.588G>C (p.Arg196=)
n.984G>C
c.684G>C (p.Arg228=)
11g.62995748C>TCA475140571SLC22A8c.957G>A (p.Arg319=)
c.588G>A (p.Arg196=)
n.984G>A
c.684G>A (p.Arg228=)
11g.62995749C>ACA380982081SLC22A8c.956G>T (p.Arg319Leu)
c.587G>T (p.Arg196Leu)
n.983G>T
c.683G>T (p.Arg228Leu)
11g.62995749C=CA1978012891SLC22A8c.956G= (p.Arg319=)
c.587G= (p.Arg196=)
n.983G=
c.683G= (p.Arg228=)
11g.62995749C>GCA380982084SLC22A8c.956G>C (p.Arg319Pro)
c.587G>C (p.Arg196Pro)
n.983G>C
c.683G>C (p.Arg228Pro)
11g.62995749C>TCA6059760SLC22A8c.956G>A (p.Arg319Gln)
c.587G>A (p.Arg196Gln)
n.983G>A
c.683G>A (p.Arg228Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995750G>ACA6059761SLC22A8c.955C>T (p.Arg319Trp)
c.586C>T (p.Arg196Trp)
n.982C>T
c.682C>T (p.Arg228Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995750G>CCA380982088SLC22A8c.955C>G (p.Arg319Gly)
c.586C>G (p.Arg196Gly)
n.982C>G
c.682C>G (p.Arg228Gly)
11g.62995750G=CA1978012892SLC22A8c.955C= (p.Arg319=)
c.586C= (p.Arg196=)
n.982C=
c.682C= (p.Arg228=)
11g.62995750G>TCA475140578SLC22A8c.955C>A (p.Arg319=)
c.586C>A (p.Arg196=)
n.982C>A
c.682C>A (p.Arg228=)
11g.62995751G>ACA475140579SLC22A8c.954C>T (p.Phe318=)
c.585C>T (p.Phe195=)
n.981C>T
c.681C>T (p.Phe227=)
11g.62995751G>CCA380982089SLC22A8c.954C>G (p.Phe318Leu)
c.585C>G (p.Phe195Leu)
n.981C>G
c.681C>G (p.Phe227Leu)
 gnomAD v4
11g.62995751G>TCA380982091SLC22A8c.954C>A (p.Phe318Leu)
c.585C>A (p.Phe195Leu)
n.981C>A
c.681C>A (p.Phe227Leu)
11g.62995752A=CA1978012893SLC22A8c.953T= (p.Phe318=)
c.584T= (p.Phe195=)
n.980T=
c.680T= (p.Phe227=)
11g.62995752A>CCA380982098SLC22A8c.953T>G (p.Phe318Cys)
c.584T>G (p.Phe195Cys)
n.980T>G
c.680T>G (p.Phe227Cys)
11g.62995752A>GCA380982094SLC22A8c.953T>C (p.Phe318Ser)
c.584T>C (p.Phe195Ser)
n.980T>C
c.680T>C (p.Phe227Ser)
 dbSNP
11g.62995752A>TCA380982096SLC22A8c.953T>A (p.Phe318Tyr)
c.584T>A (p.Phe195Tyr)
n.980T>A
c.680T>A (p.Phe227Tyr)
11g.62995753A>CCA380982101SLC22A8c.952T>G (p.Phe318Val)
c.583T>G (p.Phe195Val)
n.979T>G
c.679T>G (p.Phe227Val)
11g.62995753A>GCA380982104SLC22A8c.952T>C (p.Phe318Leu)
c.583T>C (p.Phe195Leu)
n.979T>C
c.679T>C (p.Phe227Leu)
11g.62995753A>TCA380982107SLC22A8c.952T>A (p.Phe318Ile)
c.583T>A (p.Phe195Ile)
n.979T>A
c.679T>A (p.Phe227Ile)
11g.62995754C>ACA475140587SLC22A8c.951G>T (p.Leu317=)
c.582G>T (p.Leu194=)
n.978G>T
c.678G>T (p.Leu226=)
11g.62995754C=CA1978012894SLC22A8c.951G= (p.Leu317=)
c.582G= (p.Leu194=)
n.978G=
c.678G= (p.Leu226=)
11g.62995754C>GCA475140588SLC22A8c.951G>C (p.Leu317=)
c.582G>C (p.Leu194=)
n.978G>C
c.678G>C (p.Leu226=)
11g.62995754C>TCA6059762SLC22A8c.951G>A (p.Leu317=)
c.582G>A (p.Leu194=)
n.978G>A
c.678G>A (p.Leu226=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995755A>CCA380982111SLC22A8c.950T>G (p.Leu317Arg)
c.581T>G (p.Leu194Arg)
n.977T>G
c.677T>G (p.Leu226Arg)
11g.62995755A>GCA380982113SLC22A8c.950T>C (p.Leu317Pro)
c.581T>C (p.Leu194Pro)
n.977T>C
c.677T>C (p.Leu226Pro)
11g.62995755A>TCA380982116SLC22A8c.950T>A (p.Leu317Gln)
c.581T>A (p.Leu194Gln)
n.977T>A
c.677T>A (p.Leu226Gln)
11g.62995756G>ACA475140591SLC22A8c.949C>T (p.Leu317=)
c.580C>T (p.Leu194=)
n.976C>T
c.676C>T (p.Leu226=)
 gnomAD v4
11g.62995756G>CCA380982120SLC22A8c.949C>G (p.Leu317Val)
c.580C>G (p.Leu194Val)
n.976C>G
c.676C>G (p.Leu226Val)
11g.62995756G>TCA380982121SLC22A8c.949C>A (p.Leu317Met)
c.580C>A (p.Leu194Met)
n.976C>A
c.676C>A (p.Leu226Met)
11g.62995757G>ACA475140593SLC22A8c.948C>T (p.Asp316=)
c.579C>T (p.Asp193=)
n.975C>T
c.675C>T (p.Asp225=)
 gnomAD v4
11g.62995757G>CCA380982123SLC22A8c.948C>G (p.Asp316Glu)
c.579C>G (p.Asp193Glu)
n.975C>G
c.675C>G (p.Asp225Glu)
11g.62995757G>TCA380982125SLC22A8c.948C>A (p.Asp316Glu)
c.579C>A (p.Asp193Glu)
n.975C>A
c.675C>A (p.Asp225Glu)
11g.62995758T>ACA380982132SLC22A8c.947A>T (p.Asp316Val)
c.578A>T (p.Asp193Val)
n.974A>T
c.674A>T (p.Asp225Val)
11g.62995758T>CCA380982129SLC22A8c.947A>G (p.Asp316Gly)
c.578A>G (p.Asp193Gly)
n.974A>G
c.674A>G (p.Asp225Gly)
11g.62995758T>GCA380982127SLC22A8c.947A>C (p.Asp316Ala)
c.578A>C (p.Asp193Ala)
n.974A>C
c.674A>C (p.Asp225Ala)
11g.62995759C>ACA380982134SLC22A8c.946G>T (p.Asp316Tyr)
c.577G>T (p.Asp193Tyr)
n.973G>T
c.673G>T (p.Asp225Tyr)
11g.62995759C>GCA380982136SLC22A8c.946G>C (p.Asp316His)
c.577G>C (p.Asp193His)
n.973G>C
c.673G>C (p.Asp225His)
 COSMIC
11g.62995759C>TCA380982138SLC22A8c.946G>A (p.Asp316Asn)
c.577G>A (p.Asp193Asn)
n.973G>A
c.673G>A (p.Asp225Asn)
 dbSNP gnomAD v4
11g.62995760A=CA1978012895SLC22A8c.945T= (p.Ser315=)
c.576T= (p.Ser192=)
n.972T=
c.672T= (p.Ser224=)
11g.62995760A>CCA380982141SLC22A8c.945T>G (p.Ser315Arg)
c.576T>G (p.Ser192Arg)
n.972T>G
c.672T>G (p.Ser224Arg)
11g.62995760A>GCA475140598SLC22A8c.945T>C (p.Ser315=)
c.576T>C (p.Ser192=)
n.972T>C
c.672T>C (p.Ser224=)
 dbSNP gnomAD v4
11g.62995760A>TCA380982143SLC22A8c.945T>A (p.Ser315Arg)
c.576T>A (p.Ser192Arg)
n.972T>A
c.672T>A (p.Ser224Arg)
11g.62995761C>ACA380982146SLC22A8c.944G>T (p.Ser315Ile)
c.575G>T (p.Ser192Ile)
n.971G>T
c.671G>T (p.Ser224Ile)
11g.62995761C=CA1978012896SLC22A8c.944G= (p.Ser315=)
c.575G= (p.Ser192=)
n.971G=
c.671G= (p.Ser224=)
11g.62995761C>GCA380982148SLC22A8c.944G>C (p.Ser315Thr)
c.575G>C (p.Ser192Thr)
n.971G>C
c.671G>C (p.Ser224Thr)
11g.62995761C>TCA6059763SLC22A8c.944G>A (p.Ser315Asn)
c.575G>A (p.Ser192Asn)
n.971G>A
c.671G>A (p.Ser224Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62995762T>ACA380982151SLC22A8c.943A>T (p.Ser315Cys)
c.574A>T (p.Ser192Cys)
n.970A>T
c.670A>T (p.Ser224Cys)
11g.62995762T>CCA380982155SLC22A8c.943A>G (p.Ser315Gly)
c.574A>G (p.Ser192Gly)
n.970A>G
c.670A>G (p.Ser224Gly)
11g.62995762T>GCA380982157SLC22A8c.943A>C (p.Ser315Arg)
c.574A>C (p.Ser192Arg)
n.970A>C
c.670A>C (p.Ser224Arg)
11g.62995763T>ACA475140601SLC22A8c.942A>T (p.Ala314=)
c.573A>T (p.Ala191=)
n.969A>T
c.669A>T (p.Ala223=)
11g.62995763T>CCA475140603SLC22A8c.942A>G (p.Ala314=)
c.573A>G (p.Ala191=)
n.969A>G
c.669A>G (p.Ala223=)
11g.62995763T>GCA475140602SLC22A8c.942A>C (p.Ala314=)
c.573A>C (p.Ala191=)
n.969A>C
c.669A>C (p.Ala223=)
 gnomAD v4
11g.62995764G>ACA380982165SLC22A8c.941C>T (p.Ala314Val)
c.572C>T (p.Ala191Val)
n.968C>T
c.668C>T (p.Ala223Val)
 dbSNP
11g.62995764G>CCA380982163SLC22A8c.941C>G (p.Ala314Gly)
c.572C>G (p.Ala191Gly)
n.968C>G
c.668C>G (p.Ala223Gly)
11g.62995764G=CA1978012897SLC22A8c.941C= (p.Ala314=)
c.572C= (p.Ala191=)
n.968C=
c.668C= (p.Ala223=)
11g.62995764G>TCA380982159SLC22A8c.941C>A (p.Ala314Glu)
c.572C>A (p.Ala191Glu)
n.968C>A
c.668C>A (p.Ala223Glu)
11g.62995765C>ACA380982169SLC22A8c.940G>T (p.Ala314Ser)
c.571G>T (p.Ala191Ser)
n.967G>T
c.667G>T (p.Ala223Ser)
 dbSNP gnomAD v4
11g.62995765C=CA1978012898SLC22A8c.940G= (p.Ala314=)
c.571G= (p.Ala191=)
n.967G=
c.667G= (p.Ala223=)
11g.62995765C>GCA380982174SLC22A8c.940G>C (p.Ala314Pro)
c.571G>C (p.Ala191Pro)
n.967G>C
c.667G>C (p.Ala223Pro)
 gnomAD v4
11g.62995765C>TCA6059764SLC22A8c.940G>A (p.Ala314Thr)
c.571G>A (p.Ala191Thr)
n.967G>A
c.667G>A (p.Ala223Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.62995766G>ACA6059765SLC22A8c.939C>T (p.Thr313=)
c.570C>T (p.Thr190=)
n.966C>T
c.666C>T (p.Thr222=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995766G>CCA475140607SLC22A8c.939C>G (p.Thr313=)
c.570C>G (p.Thr190=)
n.966C>G
c.666C>G (p.Thr222=)
11g.62995766G=CA1978012899SLC22A8c.939C= (p.Thr313=)
c.570C= (p.Thr190=)
n.966C=
c.666C= (p.Thr222=)
11g.62995766G>TCA475140608SLC22A8c.939C>A (p.Thr313=)
c.570C>A (p.Thr190=)
n.966C>A
c.666C>A (p.Thr222=)
11g.62995767G>ACA380982179SLC22A8c.938C>T (p.Thr313Ile)
c.569C>T (p.Thr190Ile)
n.965C>T
c.665C>T (p.Thr222Ile)
 gnomAD v4
11g.62995767G>CCA380982182SLC22A8c.938C>G (p.Thr313Ser)
c.569C>G (p.Thr190Ser)
n.965C>G
c.665C>G (p.Thr222Ser)
11g.62995767G>TCA380982185SLC22A8c.938C>A (p.Thr313Asn)
c.569C>A (p.Thr190Asn)
n.965C>A
c.665C>A (p.Thr222Asn)
 COSMIC
11g.62995768T>ACA380982187SLC22A8c.937A>T (p.Thr313Ser)
c.568A>T (p.Thr190Ser)
n.964A>T
c.664A>T (p.Thr222Ser)
11g.62995768T>CCA380982189SLC22A8c.937A>G (p.Thr313Ala)
c.568A>G (p.Thr190Ala)
n.964A>G
c.664A>G (p.Thr222Ala)
 gnomAD v4
11g.62995768T>GCA380982193SLC22A8c.937A>C (p.Thr313Pro)
c.568A>C (p.Thr190Pro)
n.964A>C
c.664A>C (p.Thr222Pro)
11g.62995769G>ACA475140611SLC22A8c.936C>T (p.Tyr312=)
c.567C>T (p.Tyr189=)
n.963C>T
c.663C>T (p.Tyr221=)
11g.62995769G>CCA380982195SLC22A8c.936C>G (p.Tyr312Ter)
c.567C>G (p.Tyr189Ter)
n.963C>G
c.663C>G (p.Tyr221Ter)
11g.62995769G>TCA380982197SLC22A8c.936C>A (p.Tyr312Ter)
c.567C>A (p.Tyr189Ter)
n.963C>A
c.663C>A (p.Tyr221Ter)
11g.62995770T>ACA380982204SLC22A8c.935A>T (p.Tyr312Phe)
c.566A>T (p.Tyr189Phe)
n.962A>T
c.662A>T (p.Tyr221Phe)
11g.62995770T>CCA380982202SLC22A8c.935A>G (p.Tyr312Cys)
c.566A>G (p.Tyr189Cys)
n.962A>G
c.662A>G (p.Tyr221Cys)
 gnomAD v4
11g.62995770T>GCA380982199SLC22A8c.935A>C (p.Tyr312Ser)
c.566A>C (p.Tyr189Ser)
n.962A>C
c.662A>C (p.Tyr221Ser)
11g.62995770_62995771delCA2524724840SLC22A8c.934_935del (p.Tyr312HisfsTer4)
c.565_566del (p.Tyr189HisfsTer4)
n.961_962del
c.661_662del (p.Tyr221HisfsTer4)
11g.62995771A=CA1978012900SLC22A8c.934T= (p.Tyr312=)
c.565T= (p.Tyr189=)
n.961T=
c.661T= (p.Tyr221=)
11g.62995771A>CCA223623501SLC22A8c.934T>G (p.Tyr312Asp)
c.565T>G (p.Tyr189Asp)
n.961T>G
c.661T>G (p.Tyr221Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62995771A>GCA380982206SLC22A8c.934T>C (p.Tyr312His)
c.565T>C (p.Tyr189His)
n.961T>C
c.661T>C (p.Tyr221His)
11g.62995771A>TCA380982209SLC22A8c.934T>A (p.Tyr312Asn)
c.565T>A (p.Tyr189Asn)
n.961T>A
c.661T>A (p.Tyr221Asn)
11g.62995772C>ACA380982211SLC22A8c.933G>T (p.Lys311Asn)
c.564G>T (p.Lys188Asn)
n.960G>T
c.660G>T (p.Lys220Asn)
11g.62995772C=CA1978012901SLC22A8c.933G= (p.Lys311=)
c.564G= (p.Lys188=)
n.960G=
c.660G= (p.Lys220=)
11g.62995772C>GCA380982213SLC22A8c.933G>C (p.Lys311Asn)
c.564G>C (p.Lys188Asn)
n.960G>C
c.660G>C (p.Lys220Asn)
11g.62995772C>TCA6059766SLC22A8c.933G>A (p.Lys311=)
c.564G>A (p.Lys188=)
n.960G>A
c.660G>A (p.Lys220=)
 dbSNP ExAC gnomAD v4
11g.62995773T>ACA380982223SLC22A8c.932A>T (p.Lys311Met)
c.563A>T (p.Lys188Met)
n.959A>T
c.659A>T (p.Lys220Met)
11g.62995773T>CCA380982220SLC22A8c.932A>G (p.Lys311Arg)
c.563A>G (p.Lys188Arg)
n.959A>G
c.659A>G (p.Lys220Arg)
11g.62995773T>GCA380982218SLC22A8c.932A>C (p.Lys311Thr)
c.563A>C (p.Lys188Thr)
n.959A>C
c.659A>C (p.Lys220Thr)
 gnomAD v4
11g.62995774T>ACA380982225SLC22A8c.931A>T (p.Lys311Ter)
c.562A>T (p.Lys188Ter)
n.958A>T
c.658A>T (p.Lys220Ter)
11g.62995774T>CCA380982226SLC22A8c.931A>G (p.Lys311Glu)
c.562A>G (p.Lys188Glu)
n.958A>G
c.658A>G (p.Lys220Glu)
11g.62995774T>GCA380982229SLC22A8c.931A>C (p.Lys311Gln)
c.562A>C (p.Lys188Gln)
n.958A>C
c.658A>C (p.Lys220Gln)
11g.62995775G>ACA475140620SLC22A8c.930C>T (p.Ala310=)
c.561C>T (p.Ala187=)
n.957C>T
c.657C>T (p.Ala219=)
11g.62995775G>CCA475140621SLC22A8c.930C>G (p.Ala310=)
c.561C>G (p.Ala187=)
n.957C>G
c.657C>G (p.Ala219=)
11g.62995775G>TCA475140622SLC22A8c.930C>A (p.Ala310=)
c.561C>A (p.Ala187=)
n.957C>A
c.657C>A (p.Ala219=)
11g.62995776G>ACA6059767SLC22A8c.929C>T (p.Ala310Val)
c.560C>T (p.Ala187Val)
n.956C>T
c.656C>T (p.Ala219Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995776G>CCA380982231SLC22A8c.929C>G (p.Ala310Gly)
c.560C>G (p.Ala187Gly)
n.956C>G
c.656C>G (p.Ala219Gly)
11g.62995776G=CA1978012902SLC22A8c.929C= (p.Ala310=)
c.560C= (p.Ala187=)
n.956C=
c.656C= (p.Ala219=)
11g.62995776G>TCA380982233SLC22A8c.929C>A (p.Ala310Asp)
c.560C>A (p.Ala187Asp)
n.956C>A
c.656C>A (p.Ala219Asp)
11g.62995777C>ACA380982235SLC22A8c.928G>T (p.Ala310Ser)
c.559G>T (p.Ala187Ser)
n.955G>T
c.655G>T (p.Ala219Ser)
 gnomAD v4
11g.62995777C=CA1978012903SLC22A8c.928G= (p.Ala310=)
c.559G= (p.Ala187=)
n.955G=
c.655G= (p.Ala219=)
11g.62995777C>GCA380982238SLC22A8c.928G>C (p.Ala310Pro)
c.559G>C (p.Ala187Pro)
n.955G>C
c.655G>C (p.Ala219Pro)
11g.62995777C>TCA380982237SLC22A8c.928G>A (p.Ala310Thr)
c.559G>A (p.Ala187Thr)
n.955G>A
c.655G>A (p.Ala219Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.62995778C>ACA380982240SLC22A8c.927G>T (p.Lys309Asn)
c.558G>T (p.Lys186Asn)
n.954G>T
c.654G>T (p.Lys218Asn)
11g.62995778C>GCA380982241SLC22A8c.927G>C (p.Lys309Asn)
c.558G>C (p.Lys186Asn)
n.954G>C
c.654G>C (p.Lys218Asn)
11g.62995778C>TCA475140628SLC22A8c.927G>A (p.Lys309=)
c.558G>A (p.Lys186=)
n.954G>A
c.654G>A (p.Lys218=)
11g.62995779T>ACA380982243SLC22A8c.926A>T (p.Lys309Met)
c.557A>T (p.Lys186Met)
n.953A>T
c.653A>T (p.Lys218Met)
11g.62995779T>CCA380982245SLC22A8c.926A>G (p.Lys309Arg)
c.557A>G (p.Lys186Arg)
n.953A>G
c.653A>G (p.Lys218Arg)
 COSMIC
11g.62995779T>GCA380982246SLC22A8c.926A>C (p.Lys309Thr)
c.557A>C (p.Lys186Thr)
n.953A>C
c.653A>C (p.Lys218Thr)
11g.62995780T>ACA380982248SLC22A8c.925A>T (p.Lys309Ter)
c.556A>T (p.Lys186Ter)
n.952A>T
c.652A>T (p.Lys218Ter)
11g.62995780T>CCA380982250SLC22A8c.925A>G (p.Lys309Glu)
c.556A>G (p.Lys186Glu)
n.952A>G
c.652A>G (p.Lys218Glu)
11g.62995780T>GCA380982252SLC22A8c.925A>C (p.Lys309Gln)
c.556A>C (p.Lys186Gln)
n.952A>C
c.652A>C (p.Lys218Gln)
11g.62995781G>ACA475140632SLC22A8c.924C>T (p.Ala308=)
c.555C>T (p.Ala185=)
n.951C>T
c.651C>T (p.Ala217=)
11g.62995781G>CCA475140634SLC22A8c.924C>G (p.Ala308=)
c.555C>G (p.Ala185=)
n.951C>G
c.651C>G (p.Ala217=)
11g.62995781G>TCA475140635SLC22A8c.924C>A (p.Ala308=)
c.555C>A (p.Ala185=)
n.951C>A
c.651C>A (p.Ala217=)
11g.62995782G>ACA380982253SLC22A8c.923C>T (p.Ala308Val)
c.554C>T (p.Ala185Val)
n.950C>T
c.650C>T (p.Ala217Val)
11g.62995782G>CCA380982254SLC22A8c.923C>G (p.Ala308Gly)
c.554C>G (p.Ala185Gly)
n.950C>G
c.650C>G (p.Ala217Gly)
11g.62995782G>TCA380982256SLC22A8c.923C>A (p.Ala308Asp)
c.554C>A (p.Ala185Asp)
n.950C>A
c.650C>A (p.Ala217Asp)
11g.62995783C>ACA380982258SLC22A8c.922G>T (p.Ala308Ser)
c.553G>T (p.Ala185Ser)
n.949G>T
c.649G>T (p.Ala217Ser)
11g.62995783C=CA1978012904SLC22A8c.922G= (p.Ala308=)
c.553G= (p.Ala185=)
n.949G=
c.649G= (p.Ala217=)
11g.62995783C>GCA380982263SLC22A8c.922G>C (p.Ala308Pro)
c.553G>C (p.Ala185Pro)
n.949G>C
c.649G>C (p.Ala217Pro)
 dbSNP
11g.62995783C>TCA380982260SLC22A8c.922G>A (p.Ala308Thr)
c.553G>A (p.Ala185Thr)
n.949G>A
c.649G>A (p.Ala217Thr)
11g.62995784C>ACA380982264SLC22A8c.921G>T (p.Leu307Phe)
c.552G>T (p.Leu184Phe)
n.948G>T
c.648G>T (p.Leu216Phe)
11g.62995784C=CA1978012905SLC22A8c.921G= (p.Leu307=)
c.552G= (p.Leu184=)
n.948G=
c.648G= (p.Leu216=)
11g.62995784C>GCA380982265SLC22A8c.921G>C (p.Leu307Phe)
c.552G>C (p.Leu184Phe)
n.948G>C
c.648G>C (p.Leu216Phe)
 dbSNP gnomAD v3 gnomAD v4
11g.62995784C>TCA475140640SLC22A8c.921G>A (p.Leu307=)
c.552G>A (p.Leu184=)
n.948G>A
c.648G>A (p.Leu216=)
11g.62995785A=CA1978012906SLC22A8c.920T= (p.Leu307=)
c.551T= (p.Leu184=)
n.947T=
c.647T= (p.Leu216=)
11g.62995785A>CCA380982267SLC22A8c.920T>G (p.Leu307Trp)
c.551T>G (p.Leu184Trp)
n.947T>G
c.647T>G (p.Leu216Trp)
11g.62995785A>GCA6059768SLC22A8c.920T>C (p.Leu307Ser)
c.551T>C (p.Leu184Ser)
n.947T>C
c.647T>C (p.Leu216Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995785A>TCA380982269SLC22A8c.920T>A (p.Leu307Ter)
c.551T>A (p.Leu184Ter)
n.947T>A
c.647T>A (p.Leu216Ter)
11g.62995786A>CCA380982271SLC22A8c.919T>G (p.Leu307Val)
c.550T>G (p.Leu184Val)
n.946T>G
c.646T>G (p.Leu216Val)
11g.62995786A>GCA475140642SLC22A8c.919T>C (p.Leu307=)
c.550T>C (p.Leu184=)
n.946T>C
c.646T>C (p.Leu216=)
11g.62995786A>TCA380982273SLC22A8c.919T>A (p.Leu307Met)
c.550T>A (p.Leu184Met)
n.946T>A
c.646T>A (p.Leu216Met)
11g.62995787G>ACA6059769SLC22A8c.918C>T (p.Ser306=)
c.549C>T (p.Ser183=)
n.945C>T
c.645C>T (p.Ser215=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62995787G>CCA475140643SLC22A8c.918C>G (p.Ser306=)
c.549C>G (p.Ser183=)
n.945C>G
c.645C>G (p.Ser215=)
11g.62995787G=CA1978012907SLC22A8c.918C= (p.Ser306=)
c.549C= (p.Ser183=)
n.945C=
c.645C= (p.Ser215=)
11g.62995787G>TCA475140644SLC22A8c.918C>A (p.Ser306=)
c.549C>A (p.Ser183=)
n.945C>A
c.645C>A (p.Ser215=)
11g.62995788G>ACA223623525SLC22A8c.917C>T (p.Ser306Phe)
c.548C>T (p.Ser183Phe)
n.944C>T
c.644C>T (p.Ser215Phe)
 dbSNP gnomAD v4 COSMIC
11g.62995788G>CCA380982276SLC22A8c.917C>G (p.Ser306Cys)
c.548C>G (p.Ser183Cys)
n.944C>G
c.644C>G (p.Ser215Cys)
11g.62995788G=CA1978012908SLC22A8c.917C= (p.Ser306=)
c.548C= (p.Ser183=)
n.944C=
c.644C= (p.Ser215=)
11g.62995788G>TCA380982278SLC22A8c.917C>A (p.Ser306Tyr)
c.548C>A (p.Ser183Tyr)
n.944C>A
c.644C>A (p.Ser215Tyr)
11g.62995789A>CCA380982284SLC22A8c.916T>G (p.Ser306Ala)
c.547T>G (p.Ser183Ala)
n.943T>G
c.643T>G (p.Ser215Ala)
11g.62995789A>GCA380982282SLC22A8c.916T>C (p.Ser306Pro)
c.547T>C (p.Ser183Pro)
n.943T>C
c.643T>C (p.Ser215Pro)
11g.62995789A>TCA380982280SLC22A8c.916T>A (p.Ser306Thr)
c.547T>A (p.Ser183Thr)
n.943T>A
c.643T>A (p.Ser215Thr)
11g.62995790G>ACA475140650SLC22A8c.915C>T (p.Ile305=)
c.546C>T (p.Ile182=)
n.942C>T
c.642C>T (p.Ile214=)
11g.62995790G>CCA380982286SLC22A8c.915C>G (p.Ile305Met)
c.546C>G (p.Ile182Met)
n.942C>G
c.642C>G (p.Ile214Met)
11g.62995790G=CA1978012909SLC22A8c.915C= (p.Ile305=)
c.546C= (p.Ile182=)
n.942C=
c.642C= (p.Ile214=)
11g.62995790G>TCA475140651SLC22A8c.915C>A (p.Ile305=)
c.546C>A (p.Ile182=)
n.942C>A
c.642C>A (p.Ile214=)
 dbSNP gnomAD v4
11g.62995791A>CCA380982287SLC22A8c.914T>G (p.Ile305Ser)
c.545T>G (p.Ile182Ser)
n.941T>G
c.641T>G (p.Ile214Ser)
11g.62995791A>GCA380982288SLC22A8c.914T>C (p.Ile305Thr)
c.545T>C (p.Ile182Thr)
n.941T>C
c.641T>C (p.Ile214Thr)
11g.62995791A>TCA380982290SLC22A8c.914T>A (p.Ile305Asn)
c.545T>A (p.Ile182Asn)
n.941T>A
c.641T>A (p.Ile214Asn)
11g.62995792T>ACA6059770SLC22A8c.913A>T (p.Ile305Phe)
c.544A>T (p.Ile182Phe)
n.940A>T
c.640A>T (p.Ile214Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995792T>CCA380982293SLC22A8c.913A>G (p.Ile305Val)
c.544A>G (p.Ile182Val)
n.940A>G
c.640A>G (p.Ile214Val)
11g.62995792T>GCA380982294SLC22A8c.913A>C (p.Ile305Leu)
c.544A>C (p.Ile182Leu)
n.940A>C
c.640A>C (p.Ile214Leu)
11g.62995792T=CA1978012910SLC22A8c.913A= (p.Ile305=)
c.544A= (p.Ile182=)
n.940A=
c.640A= (p.Ile214=)

Number of alleles fetched