Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.20628020_20636733delCA2580082890SLC6A5c.1436_1737+314del
c.*733_*1034+314del
c.734_1035+314del
c.560_861+314del
c.395_696+314del
 ClinVar
11g.20628019T>ACA379917247SLC6A5c.1435T>A (p.Ser479Thr)
c.*732T>A (n.*732T>A)
c.733T>A (p.Ser245Thr)
c.559T>A (p.Ser187Thr)
c.394T>A (p.Ser132Thr)
11g.20628019T>CCA379917248SLC6A5c.1435T>C (p.Ser479Pro)
c.*732T>C (n.*732T>C)
c.733T>C (p.Ser245Pro)
c.559T>C (p.Ser187Pro)
c.394T>C (p.Ser132Pro)
11g.20628019T>GCA379917249SLC6A5c.1435T>G (p.Ser479Ala)
c.*732T>G (n.*732T>G)
c.733T>G (p.Ser245Ala)
c.559T>G (p.Ser187Ala)
c.394T>G (p.Ser132Ala)
11g.20628020C>ACA379917251SLC6A5c.1436C>A (p.Ser479Tyr)
c.*733C>A (n.*733C>A)
c.734C>A (p.Ser245Tyr)
c.560C>A (p.Ser187Tyr)
c.395C>A (p.Ser132Tyr)
11g.20628020C>GCA379917252SLC6A5c.1436C>G (p.Ser479Cys)
c.*733C>G (n.*733C>G)
c.734C>G (p.Ser245Cys)
c.560C>G (p.Ser187Cys)
c.395C>G (p.Ser132Cys)
 gnomAD v4
11g.20628020C>TCA379917250SLC6A5c.1436C>T (p.Ser479Phe)
c.*733C>T (n.*733C>T)
c.734C>T (p.Ser245Phe)
c.560C>T (p.Ser187Phe)
c.395C>T (p.Ser132Phe)
11g.20628021T>ACA473404227SLC6A5c.1437T>A (p.Ser479=)
c.*734T>A (n.*734T>A)
c.735T>A (p.Ser245=)
c.561T>A (p.Ser187=)
c.396T>A (p.Ser132=)
11g.20628021T>CCA473404228SLC6A5c.1437T>C (p.Ser479=)
c.*734T>C (n.*734T>C)
c.735T>C (p.Ser245=)
c.561T>C (p.Ser187=)
c.396T>C (p.Ser132=)
11g.20628021T>GCA473404229SLC6A5c.1437T>G (p.Ser479=)
c.*734T>G (n.*734T>G)
c.735T>G (p.Ser245=)
c.561T>G (p.Ser187=)
c.396T>G (p.Ser132=)
11g.20628022G>ACA379917253SLC6A5c.1438G>A (p.Ala480Thr)
c.*735G>A (n.*735G>A)
c.736G>A (p.Ala246Thr)
c.562G>A (p.Ala188Thr)
c.397G>A (p.Ala133Thr)
11g.20628022G>CCA379917254SLC6A5c.1438G>C (p.Ala480Pro)
c.*735G>C (n.*735G>C)
c.736G>C (p.Ala246Pro)
c.562G>C (p.Ala188Pro)
c.397G>C (p.Ala133Pro)
11g.20628022G>TCA379917255SLC6A5c.1438G>T (p.Ala480Ser)
c.*735G>T (n.*735G>T)
c.736G>T (p.Ala246Ser)
c.562G>T (p.Ala188Ser)
c.397G>T (p.Ala133Ser)
11g.20628023C>ACA379917256SLC6A5c.1439C>A (p.Ala480Asp)
c.*736C>A (n.*736C>A)
c.737C>A (p.Ala246Asp)
c.563C>A (p.Ala188Asp)
c.398C>A (p.Ala133Asp)
11g.20628023C=CA1956619745SLC6A5c.1439C= (p.Ala480=)
c.*736C= (n.*736C=)
c.737C= (p.Ala246=)
c.563C= (p.Ala188=)
c.398C= (p.Ala133=)
11g.20628023C>GCA379917257SLC6A5c.1439C>G (p.Ala480Gly)
c.*736C>G (n.*736C>G)
c.737C>G (p.Ala246Gly)
c.563C>G (p.Ala188Gly)
c.398C>G (p.Ala133Gly)
11g.20628023C>TCA5921454SLC6A5c.1439C>T (p.Ala480Val)
c.*736C>T (n.*736C>T)
c.737C>T (p.Ala246Val)
c.563C>T (p.Ala188Val)
c.398C>T (p.Ala133Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628024T>ACA473404230SLC6A5c.1440T>A (p.Ala480=)
c.*737T>A (n.*737T>A)
c.738T>A (p.Ala246=)
c.564T>A (p.Ala188=)
c.399T>A (p.Ala133=)
11g.20628024T>CCA473404231SLC6A5c.1440T>C (p.Ala480=)
c.*737T>C (n.*737T>C)
c.738T>C (p.Ala246=)
c.564T>C (p.Ala188=)
c.399T>C (p.Ala133=)
 dbSNP gnomAD v2 gnomAD v4
11g.20628024T>GCA473404232SLC6A5c.1440T>G (p.Ala480=)
c.*737T>G (n.*737T>G)
c.738T>G (p.Ala246=)
c.564T>G (p.Ala188=)
c.399T>G (p.Ala133=)
11g.20628024T=CA1956619746SLC6A5c.1440T= (p.Ala480=)
c.*737T= (n.*737T=)
c.738T= (p.Ala246=)
c.564T= (p.Ala188=)
c.399T= (p.Ala133=)
11g.20628025G>ACA379917260SLC6A5c.1441G>A (p.Ala481Thr)
c.*738G>A (n.*738G>A)
c.739G>A (p.Ala247Thr)
c.565G>A (p.Ala189Thr)
c.400G>A (p.Ala134Thr)
 COSMIC
11g.20628025G>CCA379917258SLC6A5c.1441G>C (p.Ala481Pro)
c.*738G>C (n.*738G>C)
c.739G>C (p.Ala247Pro)
c.565G>C (p.Ala189Pro)
c.400G>C (p.Ala134Pro)
11g.20628025G>TCA379917259SLC6A5c.1441G>T (p.Ala481Ser)
c.*738G>T (n.*738G>T)
c.739G>T (p.Ala247Ser)
c.565G>T (p.Ala189Ser)
c.400G>T (p.Ala134Ser)
11g.20628026C>ACA379917261SLC6A5c.1442C>A (p.Ala481Glu)
c.*739C>A (n.*739C>A)
c.740C>A (p.Ala247Glu)
c.566C>A (p.Ala189Glu)
c.401C>A (p.Ala134Glu)
11g.20628026C=CA1956619747SLC6A5c.1442C= (p.Ala481=)
c.*739C= (n.*739C=)
c.740C= (p.Ala247=)
c.566C= (p.Ala189=)
c.401C= (p.Ala134=)
11g.20628026C>GCA379917262SLC6A5c.1442C>G (p.Ala481Gly)
c.*739C>G (n.*739C>G)
c.740C>G (p.Ala247Gly)
c.566C>G (p.Ala189Gly)
c.401C>G (p.Ala134Gly)
11g.20628026C>TCA379917263SLC6A5c.1442C>T (p.Ala481Val)
c.*739C>T (n.*739C>T)
c.740C>T (p.Ala247Val)
c.566C>T (p.Ala189Val)
c.401C>T (p.Ala134Val)
 ClinVar dbSNP
11g.20628027A=CA1956619748SLC6A5c.1443A= (p.Ala481=)
c.*740A= (n.*740A=)
c.741A= (p.Ala247=)
c.567A= (p.Ala189=)
c.402A= (p.Ala134=)
11g.20628027A>CCA473404233SLC6A5c.1443A>C (p.Ala481=)
c.*740A>C (n.*740A>C)
c.741A>C (p.Ala247=)
c.567A>C (p.Ala189=)
c.402A>C (p.Ala134=)
11g.20628027A>GCA473404234SLC6A5c.1443A>G (p.Ala481=)
c.*740A>G (n.*740A>G)
c.741A>G (p.Ala247=)
c.567A>G (p.Ala189=)
c.402A>G (p.Ala134=)
 ClinVar dbSNP gnomAD v4
11g.20628027A>TCA473404235SLC6A5c.1443A>T (p.Ala481=)
c.*740A>T (n.*740A>T)
c.741A>T (p.Ala247=)
c.567A>T (p.Ala189=)
c.402A>T (p.Ala134=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.20628028T>ACA379917264SLC6A5c.1444T>A (p.Trp482Arg)
c.*741T>A (n.*741T>A)
c.742T>A (p.Trp248Arg)
c.568T>A (p.Trp190Arg)
c.403T>A (p.Trp135Arg)
11g.20628028T>CCA343002SLC6A5c.1444T>C (p.Trp482Arg)
c.*741T>C (n.*741T>C)
c.742T>C (p.Trp248Arg)
c.568T>C (p.Trp190Arg)
c.403T>C (p.Trp135Arg)
 ClinVar dbSNP
11g.20628028T>GCA379917265SLC6A5c.1444T>G (p.Trp482Gly)
c.*741T>G (n.*741T>G)
c.742T>G (p.Trp248Gly)
c.568T>G (p.Trp190Gly)
c.403T>G (p.Trp135Gly)
11g.20628028T=CA1956619749SLC6A5c.1444T= (p.Trp482=)
c.*741T= (n.*741T=)
c.742T= (p.Trp248=)
c.568T= (p.Trp190=)
c.403T= (p.Trp135=)
11g.20628029G>ACA379917266SLC6A5c.1445G>A (p.Trp482Ter)
c.*742G>A (n.*742G>A)
c.743G>A (p.Trp248Ter)
c.569G>A (p.Trp190Ter)
c.404G>A (p.Trp135Ter)
11g.20628029G>CCA379917268SLC6A5c.1445G>C (p.Trp482Ser)
c.*742G>C (n.*742G>C)
c.743G>C (p.Trp248Ser)
c.569G>C (p.Trp190Ser)
c.404G>C (p.Trp135Ser)
11g.20628029G>TCA379917267SLC6A5c.1445G>T (p.Trp482Leu)
c.*742G>T (n.*742G>T)
c.743G>T (p.Trp248Leu)
c.569G>T (p.Trp190Leu)
c.404G>T (p.Trp135Leu)
11g.20628032delCA2612827775SLC6A5c.1448del (p.Gly483GlufsTer3)
c.*745del (n.*745del)
c.746del (p.Gly249GlufsTer3)
c.572del (p.Gly191GlufsTer3)
c.407del (p.Gly136GlufsTer3)
 gnomAD v4
11g.20628030G>ACA379917269SLC6A5c.1446G>A (p.Trp482Ter)
c.*743G>A (n.*743G>A)
c.744G>A (p.Trp248Ter)
c.570G>A (p.Trp190Ter)
c.405G>A (p.Trp135Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.20628030G>CCA379917270SLC6A5c.1446G>C (p.Trp482Cys)
c.*743G>C (n.*743G>C)
c.744G>C (p.Trp248Cys)
c.570G>C (p.Trp190Cys)
c.405G>C (p.Trp135Cys)
 gnomAD v4
11g.20628030G=CA1956619750SLC6A5c.1446G= (p.Trp482=)
c.*743G= (n.*743G=)
c.744G= (p.Trp248=)
c.570G= (p.Trp190=)
c.405G= (p.Trp135=)
11g.20628030G>TCA379917271SLC6A5c.1446G>T (p.Trp482Cys)
c.*743G>T (n.*743G>T)
c.744G>T (p.Trp248Cys)
c.570G>T (p.Trp190Cys)
c.405G>T (p.Trp135Cys)
11g.20628031G>ACA379917272SLC6A5c.1447G>A (p.Gly483Arg)
c.*744G>A (n.*744G>A)
c.745G>A (p.Gly249Arg)
c.571G>A (p.Gly191Arg)
c.406G>A (p.Gly136Arg)
 gnomAD v4
11g.20628031G>CCA5921455SLC6A5c.1447G>C (p.Gly483Arg)
c.*744G>C (n.*744G>C)
c.745G>C (p.Gly249Arg)
c.571G>C (p.Gly191Arg)
c.406G>C (p.Gly136Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628031G=CA1956619751SLC6A5c.1447G= (p.Gly483=)
c.*744G= (n.*744G=)
c.745G= (p.Gly249=)
c.571G= (p.Gly191=)
c.406G= (p.Gly136=)
11g.20628031G>TCA379917273SLC6A5c.1447G>T (p.Gly483Ter)
c.*744G>T (n.*744G>T)
c.745G>T (p.Gly249Ter)
c.571G>T (p.Gly191Ter)
c.406G>T (p.Gly136Ter)
11g.20628032G>ACA379917274SLC6A5c.1448G>A (p.Gly483Glu)
c.*745G>A (n.*745G>A)
c.746G>A (p.Gly249Glu)
c.572G>A (p.Gly191Glu)
c.407G>A (p.Gly136Glu)
 dbSNP COSMIC
11g.20628032G>CCA379917275SLC6A5c.1448G>C (p.Gly483Ala)
c.*745G>C (n.*745G>C)
c.746G>C (p.Gly249Ala)
c.572G>C (p.Gly191Ala)
c.407G>C (p.Gly136Ala)
11g.20628032G>TCA379917276SLC6A5c.1448G>T (p.Gly483Val)
c.*745G>T (n.*745G>T)
c.746G>T (p.Gly249Val)
c.572G>T (p.Gly191Val)
c.407G>T (p.Gly136Val)
11g.20628032_20628033insTTCA2612827777SLC6A5c.1448_1449insTT (p.Gly484Ter)
c.*745_*746insTT (n.*745_*746insTT)
c.746_747insTT (p.Gly250Ter)
c.572_573insTT (p.Gly192Ter)
c.407_408insTT (p.Gly137Ter)
 gnomAD v4
11g.20628033A=CA1956619752SLC6A5c.1449A= (p.Gly483=)
c.*746A= (n.*746A=)
c.747A= (p.Gly249=)
c.573A= (p.Gly191=)
c.408A= (p.Gly136=)
11g.20628033A>CCA473404236SLC6A5c.1449A>C (p.Gly483=)
c.*746A>C (n.*746A>C)
c.747A>C (p.Gly249=)
c.573A>C (p.Gly191=)
c.408A>C (p.Gly136=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.20628033A>GCA473404237SLC6A5c.1449A>G (p.Gly483=)
c.*746A>G (n.*746A>G)
c.747A>G (p.Gly249=)
c.573A>G (p.Gly191=)
c.408A>G (p.Gly136=)
11g.20628033A>TCA473404238SLC6A5c.1449A>T (p.Gly483=)
c.*746A>T (n.*746A>T)
c.747A>T (p.Gly249=)
c.573A>T (p.Gly191=)
c.408A>T (p.Gly136=)
11g.20628034G>ACA379917277SLC6A5c.1450G>A (p.Gly484Ser)
c.*747G>A (n.*747G>A)
c.748G>A (p.Gly250Ser)
c.574G>A (p.Gly192Ser)
c.409G>A (p.Gly137Ser)
11g.20628034G>CCA379917278SLC6A5c.1450G>C (p.Gly484Arg)
c.*747G>C (n.*747G>C)
c.748G>C (p.Gly250Arg)
c.574G>C (p.Gly192Arg)
c.409G>C (p.Gly137Arg)
11g.20628034G>TCA379917279SLC6A5c.1450G>T (p.Gly484Cys)
c.*747G>T (n.*747G>T)
c.748G>T (p.Gly250Cys)
c.574G>T (p.Gly192Cys)
c.409G>T (p.Gly137Cys)
11g.20628035G>ACA379917280SLC6A5c.1451G>A (p.Gly484Asp)
c.*748G>A (n.*748G>A)
c.749G>A (p.Gly250Asp)
c.575G>A (p.Gly192Asp)
c.410G>A (p.Gly137Asp)
 gnomAD v4
11g.20628035G>CCA379917282SLC6A5c.1451G>C (p.Gly484Ala)
c.*748G>C (n.*748G>C)
c.749G>C (p.Gly250Ala)
c.575G>C (p.Gly192Ala)
c.410G>C (p.Gly137Ala)
11g.20628035G>TCA379917281SLC6A5c.1451G>T (p.Gly484Val)
c.*748G>T (n.*748G>T)
c.749G>T (p.Gly250Val)
c.575G>T (p.Gly192Val)
c.410G>T (p.Gly137Val)
11g.20628036C>ACA473404239SLC6A5c.1452C>A (p.Gly484=)
c.*749C>A (n.*749C>A)
c.750C>A (p.Gly250=)
c.576C>A (p.Gly192=)
c.411C>A (p.Gly137=)
11g.20628036C=CA1956619753SLC6A5c.1452C= (p.Gly484=)
c.*749C= (n.*749C=)
c.750C= (p.Gly250=)
c.576C= (p.Gly192=)
c.411C= (p.Gly137=)
11g.20628036C>GCA473404240SLC6A5c.1452C>G (p.Gly484=)
c.*749C>G (n.*749C>G)
c.750C>G (p.Gly250=)
c.576C>G (p.Gly192=)
c.411C>G (p.Gly137=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.20628036C>TCA5921456SLC6A5c.1452C>T (p.Gly484=)
c.*749C>T (n.*749C>T)
c.750C>T (p.Gly250=)
c.576C>T (p.Gly192=)
c.411C>T (p.Gly137=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628037C>ACA379917283SLC6A5c.1453C>A (p.Leu485Met)
c.*750C>A (n.*750C>A)
c.751C>A (p.Leu251Met)
c.577C>A (p.Leu193Met)
c.412C>A (p.Leu138Met)
11g.20628037C>GCA379917284SLC6A5c.1453C>G (p.Leu485Val)
c.*750C>G (n.*750C>G)
c.751C>G (p.Leu251Val)
c.577C>G (p.Leu193Val)
c.412C>G (p.Leu138Val)
11g.20628037C>TCA473404241SLC6A5c.1453C>T (p.Leu485=)
c.*750C>T (n.*750C>T)
c.751C>T (p.Leu251=)
c.577C>T (p.Leu193=)
c.412C>T (p.Leu138=)
11g.20628038T>ACA379917285SLC6A5c.1454T>A (p.Leu485Gln)
c.*751T>A (n.*751T>A)
c.752T>A (p.Leu251Gln)
c.578T>A (p.Leu193Gln)
c.413T>A (p.Leu138Gln)
11g.20628038T>CCA379917286SLC6A5c.1454T>C (p.Leu485Pro)
c.*751T>C (n.*751T>C)
c.752T>C (p.Leu251Pro)
c.578T>C (p.Leu193Pro)
c.413T>C (p.Leu138Pro)
11g.20628038T>GCA379917287SLC6A5c.1454T>G (p.Leu485Arg)
c.*751T>G (n.*751T>G)
c.752T>G (p.Leu251Arg)
c.578T>G (p.Leu193Arg)
c.413T>G (p.Leu138Arg)
11g.20628039G>ACA473404242SLC6A5c.1455G>A (p.Leu485=)
c.*752G>A (n.*752G>A)
c.753G>A (p.Leu251=)
c.579G>A (p.Leu193=)
c.414G>A (p.Leu138=)
11g.20628039G>CCA473404243SLC6A5c.1455G>C (p.Leu485=)
c.*752G>C (n.*752G>C)
c.753G>C (p.Leu251=)
c.579G>C (p.Leu193=)
c.414G>C (p.Leu138=)
11g.20628039G>TCA473404244SLC6A5c.1455G>T (p.Leu485=)
c.*752G>T (n.*752G>T)
c.753G>T (p.Leu251=)
c.579G>T (p.Leu193=)
c.414G>T (p.Leu138=)
11g.20628040A=CA1956619754SLC6A5c.1456A= (p.Ile486=)
c.*753A= (n.*753A=)
c.754A= (p.Ile252=)
c.580A= (p.Ile194=)
c.415A= (p.Ile139=)
11g.20628040A>CCA379917288SLC6A5c.1456A>C (p.Ile486Leu)
c.*753A>C (n.*753A>C)
c.754A>C (p.Ile252Leu)
c.580A>C (p.Ile194Leu)
c.415A>C (p.Ile139Leu)
 ClinVar dbSNP gnomAD v4
11g.20628040A>GCA379917289SLC6A5c.1456A>G (p.Ile486Val)
c.*753A>G (n.*753A>G)
c.754A>G (p.Ile252Val)
c.580A>G (p.Ile194Val)
c.415A>G (p.Ile139Val)
 dbSNP
11g.20628040A>TCA379917290SLC6A5c.1456A>T (p.Ile486Phe)
c.*753A>T (n.*753A>T)
c.754A>T (p.Ile252Phe)
c.580A>T (p.Ile194Phe)
c.415A>T (p.Ile139Phe)
11g.20628041T>ACA379917291SLC6A5c.1457T>A (p.Ile486Asn)
c.*754T>A (n.*754T>A)
c.755T>A (p.Ile252Asn)
c.581T>A (p.Ile194Asn)
c.416T>A (p.Ile139Asn)
11g.20628041T>CCA379917292SLC6A5c.1457T>C (p.Ile486Thr)
c.*754T>C (n.*754T>C)
c.755T>C (p.Ile252Thr)
c.581T>C (p.Ile194Thr)
c.416T>C (p.Ile139Thr)
11g.20628041T>GCA379917293SLC6A5c.1457T>G (p.Ile486Ser)
c.*754T>G (n.*754T>G)
c.755T>G (p.Ile252Ser)
c.581T>G (p.Ile194Ser)
c.416T>G (p.Ile139Ser)
11g.20628042C>ACA473404245SLC6A5c.1458C>A (p.Ile486=)
c.*755C>A (n.*755C>A)
c.756C>A (p.Ile252=)
c.582C>A (p.Ile194=)
c.417C>A (p.Ile139=)
11g.20628042C=CA1956619755SLC6A5c.1458C= (p.Ile486=)
c.*755C= (n.*755C=)
c.756C= (p.Ile252=)
c.582C= (p.Ile194=)
c.417C= (p.Ile139=)
11g.20628042C>GCA379917294SLC6A5c.1458C>G (p.Ile486Met)
c.*755C>G (n.*755C>G)
c.756C>G (p.Ile252Met)
c.582C>G (p.Ile194Met)
c.417C>G (p.Ile139Met)
11g.20628042C>TCA473404246SLC6A5c.1458C>T (p.Ile486=)
c.*755C>T (n.*755C>T)
c.756C>T (p.Ile252=)
c.582C>T (p.Ile194=)
c.417C>T (p.Ile139=)
 dbSNP
11g.20628043A>CCA379917297SLC6A5c.1459A>C (p.Thr487Pro)
c.*756A>C (n.*756A>C)
c.757A>C (p.Thr253Pro)
c.583A>C (p.Thr195Pro)
c.418A>C (p.Thr140Pro)
11g.20628043A>GCA379917295SLC6A5c.1459A>G (p.Thr487Ala)
c.*756A>G (n.*756A>G)
c.757A>G (p.Thr253Ala)
c.583A>G (p.Thr195Ala)
c.418A>G (p.Thr140Ala)
11g.20628043A>TCA379917296SLC6A5c.1459A>T (p.Thr487Ser)
c.*756A>T (n.*756A>T)
c.757A>T (p.Thr253Ser)
c.583A>T (p.Thr195Ser)
c.418A>T (p.Thr140Ser)
11g.20628043_20628045delinsACTCA1956619756SLC6A5c.1459_1461delinsACT (p.Thr487=)
c.*756_*758delinsACT (n.*756_*758delinsACT)
c.757_759delinsACT (p.Thr253=)
c.583_585delinsACT (p.Thr195=)
c.418_420delinsACT (p.Thr140=)
11g.20628044C>ACA379917298SLC6A5c.1460C>A (p.Thr487Asn)
c.*757C>A (n.*757C>A)
c.758C>A (p.Thr253Asn)
c.584C>A (p.Thr195Asn)
c.419C>A (p.Thr140Asn)
11g.20628044C>GCA379917299SLC6A5c.1460C>G (p.Thr487Ser)
c.*757C>G (n.*757C>G)
c.758C>G (p.Thr253Ser)
c.584C>G (p.Thr195Ser)
c.419C>G (p.Thr140Ser)
11g.20628044C>TCA379917300SLC6A5c.1460C>T (p.Thr487Ile)
c.*757C>T (n.*757C>T)
c.758C>T (p.Thr253Ile)
c.584C>T (p.Thr195Ile)
c.419C>T (p.Thr140Ile)
11g.20628050_20628051delCA1956619757SLC6A5c.1466_1467del (p.Ser489PhefsTer?)
c.*763_*764del (n.*763_*764del)
c.764_765del (p.Ser255PhefsTer?)
c.590_591del (p.Ser197PhefsTer?)
c.425_426del (p.Ser142PhefsTer?)
 dbSNP
11g.20628048_20628051delCA2574780337SLC6A5c.1464_1467del (p.Ser489LeufsTer14)
c.*761_*764del (n.*761_*764del)
c.762_765del (p.Ser255LeufsTer14)
c.588_591del (p.Ser197LeufsTer14)
c.423_426del (p.Ser142LeufsTer14)
11g.20628045T>ACA473404248SLC6A5c.1461T>A (p.Thr487=)
c.*758T>A (n.*758T>A)
c.759T>A (p.Thr253=)
c.585T>A (p.Thr195=)
c.420T>A (p.Thr140=)
11g.20628045T>CCA473404249SLC6A5c.1461T>C (p.Thr487=)
c.*758T>C (n.*758T>C)
c.759T>C (p.Thr253=)
c.585T>C (p.Thr195=)
c.420T>C (p.Thr140=)
11g.20628045T>GCA473404247SLC6A5c.1461T>G (p.Thr487=)
c.*758T>G (n.*758T>G)
c.759T>G (p.Thr253=)
c.585T>G (p.Thr195=)
c.420T>G (p.Thr140=)
11g.20628046C>ACA379917301SLC6A5c.1462C>A (p.Leu488Ile)
c.*759C>A (n.*759C>A)
c.760C>A (p.Leu254Ile)
c.586C>A (p.Leu196Ile)
c.421C>A (p.Leu141Ile)
11g.20628046C=CA1956619758SLC6A5c.1462C= (p.Leu488=)
c.*759C= (n.*759C=)
c.760C= (p.Leu254=)
c.586C= (p.Leu196=)
c.421C= (p.Leu141=)
11g.20628046C>GCA379917302SLC6A5c.1462C>G (p.Leu488Val)
c.*759C>G (n.*759C>G)
c.760C>G (p.Leu254Val)
c.586C>G (p.Leu196Val)
c.421C>G (p.Leu141Val)
11g.20628046C>TCA5921457SLC6A5c.1462C>T (p.Leu488Phe)
c.*759C>T (n.*759C>T)
c.760C>T (p.Leu254Phe)
c.586C>T (p.Leu196Phe)
c.421C>T (p.Leu141Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628047T>ACA379917303SLC6A5c.1463T>A (p.Leu488His)
c.*760T>A (n.*760T>A)
c.761T>A (p.Leu254His)
c.587T>A (p.Leu196His)
c.422T>A (p.Leu141His)
11g.20628047T>CCA379917304SLC6A5c.1463T>C (p.Leu488Pro)
c.*760T>C (n.*760T>C)
c.761T>C (p.Leu254Pro)
c.587T>C (p.Leu196Pro)
c.422T>C (p.Leu141Pro)
11g.20628047T>GCA379917305SLC6A5c.1463T>G (p.Leu488Arg)
c.*760T>G (n.*760T>G)
c.761T>G (p.Leu254Arg)
c.587T>G (p.Leu196Arg)
c.422T>G (p.Leu141Arg)
11g.20628048C>ACA473404250SLC6A5c.1464C>A (p.Leu488=)
c.*761C>A (n.*761C>A)
c.762C>A (p.Leu254=)
c.588C>A (p.Leu196=)
c.423C>A (p.Leu141=)
 gnomAD v4
11g.20628048C>GCA473404252SLC6A5c.1464C>G (p.Leu488=)
c.*761C>G (n.*761C>G)
c.762C>G (p.Leu254=)
c.588C>G (p.Leu196=)
c.423C>G (p.Leu141=)
11g.20628048C>TCA473404254SLC6A5c.1464C>T (p.Leu488=)
c.*761C>T (n.*761C>T)
c.762C>T (p.Leu254=)
c.588C>T (p.Leu196=)
c.423C>T (p.Leu141=)
 gnomAD v4
11g.20628048_20628051delinsCTCTCA1956619759SLC6A5c.1464_1467delinsCTCT (p.Leu488=)
c.*761_*764delinsCTCT (n.*761_*764delinsCTCT)
c.762_765delinsCTCT (p.Leu254=)
c.588_591delinsCTCT (p.Leu196=)
c.423_426delinsCTCT (p.Leu141=)
11g.20628049T>ACA379917306SLC6A5c.1465T>A (p.Ser489Thr)
c.*762T>A (n.*762T>A)
c.763T>A (p.Ser255Thr)
c.589T>A (p.Ser197Thr)
c.424T>A (p.Ser142Thr)
11g.20628049T>CCA379917307SLC6A5c.1465T>C (p.Ser489Pro)
c.*762T>C (n.*762T>C)
c.763T>C (p.Ser255Pro)
c.589T>C (p.Ser197Pro)
c.424T>C (p.Ser142Pro)
 gnomAD v4
11g.20628049T>GCA379917308SLC6A5c.1465T>G (p.Ser489Ala)
c.*762T>G (n.*762T>G)
c.763T>G (p.Ser255Ala)
c.589T>G (p.Ser197Ala)
c.424T>G (p.Ser142Ala)
11g.20628053_20628055delCA674467337SLC6A5c.1469_1471del (p.Ser490del)
c.*766_*768del (n.*766_*768del)
c.767_769del (p.Ser256del)
c.593_595del (p.Ser198del)
c.428_430del (p.Ser143del)
 dbSNP gnomAD v3 gnomAD v4
11g.20628050C>ACA379917310SLC6A5c.1466C>A (p.Ser489Tyr)
c.*763C>A (n.*763C>A)
c.764C>A (p.Ser255Tyr)
c.590C>A (p.Ser197Tyr)
c.425C>A (p.Ser142Tyr)
11g.20628050C=CA1956619760SLC6A5c.1466C= (p.Ser489=)
c.*763C= (n.*763C=)
c.764C= (p.Ser255=)
c.590C= (p.Ser197=)
c.425C= (p.Ser142=)
11g.20628050C>GCA379917311SLC6A5c.1466C>G (p.Ser489Cys)
c.*763C>G (n.*763C>G)
c.764C>G (p.Ser255Cys)
c.590C>G (p.Ser197Cys)
c.425C>G (p.Ser142Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.20628050C>TCA379917309SLC6A5c.1466C>T (p.Ser489Phe)
c.*763C>T (n.*763C>T)
c.764C>T (p.Ser255Phe)
c.590C>T (p.Ser197Phe)
c.425C>T (p.Ser142Phe)
11g.20628051T>ACA473404256SLC6A5c.1467T>A (p.Ser489=)
c.*764T>A (n.*764T>A)
c.765T>A (p.Ser255=)
c.591T>A (p.Ser197=)
c.426T>A (p.Ser142=)
11g.20628051T>CCA473404257SLC6A5c.1467T>C (p.Ser489=)
c.*764T>C (n.*764T>C)
c.765T>C (p.Ser255=)
c.591T>C (p.Ser197=)
c.426T>C (p.Ser142=)
11g.20628051T>GCA473404258SLC6A5c.1467T>G (p.Ser489=)
c.*764T>G (n.*764T>G)
c.765T>G (p.Ser255=)
c.591T>G (p.Ser197=)
c.426T>G (p.Ser142=)
11g.20628052T>ACA379917313SLC6A5c.1468T>A (p.Ser490Thr)
c.*765T>A (n.*765T>A)
c.766T>A (p.Ser256Thr)
c.592T>A (p.Ser198Thr)
c.427T>A (p.Ser143Thr)
11g.20628052T>CCA379917312SLC6A5c.1468T>C (p.Ser490Pro)
c.*765T>C (n.*765T>C)
c.766T>C (p.Ser256Pro)
c.592T>C (p.Ser198Pro)
c.427T>C (p.Ser143Pro)
11g.20628052T>GCA379917314SLC6A5c.1468T>G (p.Ser490Ala)
c.*765T>G (n.*765T>G)
c.766T>G (p.Ser256Ala)
c.592T>G (p.Ser198Ala)
c.427T>G (p.Ser143Ala)
11g.20628053C>ACA379917315SLC6A5c.1469C>A (p.Ser490Tyr)
c.*766C>A (n.*766C>A)
c.767C>A (p.Ser256Tyr)
c.593C>A (p.Ser198Tyr)
c.428C>A (p.Ser143Tyr)
11g.20628053C=CA1956619761SLC6A5c.1469C= (p.Ser490=)
c.*766C= (n.*766C=)
c.767C= (p.Ser256=)
c.593C= (p.Ser198=)
c.428C= (p.Ser143=)
11g.20628053C>GCA379917317SLC6A5c.1469C>G (p.Ser490Cys)
c.*766C>G (n.*766C>G)
c.767C>G (p.Ser256Cys)
c.593C>G (p.Ser198Cys)
c.428C>G (p.Ser143Cys)
 COSMIC
11g.20628053C>TCA379917316SLC6A5c.1469C>T (p.Ser490Phe)
c.*766C>T (n.*766C>T)
c.767C>T (p.Ser256Phe)
c.593C>T (p.Ser198Phe)
c.428C>T (p.Ser143Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.20628054T>ACA473404260SLC6A5c.1470T>A (p.Ser490=)
c.*767T>A (n.*767T>A)
c.768T>A (p.Ser256=)
c.594T>A (p.Ser198=)
c.429T>A (p.Ser143=)
11g.20628054T>CCA218739483SLC6A5c.1470T>C (p.Ser490=)
c.*767T>C (n.*767T>C)
c.768T>C (p.Ser256=)
c.594T>C (p.Ser198=)
c.429T>C (p.Ser143=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.20628054T>GCA473404261SLC6A5c.1470T>G (p.Ser490=)
c.*767T>G (n.*767T>G)
c.768T>G (p.Ser256=)
c.594T>G (p.Ser198=)
c.429T>G (p.Ser143=)
11g.20628054T=CA1956619762SLC6A5c.1470T= (p.Ser490=)
c.*767T= (n.*767T=)
c.768T= (p.Ser256=)
c.594T= (p.Ser198=)
c.429T= (p.Ser143=)
11g.20628055T>ACA379917318SLC6A5c.1471T>A (p.Tyr491Asn)
c.*768T>A (n.*768T>A)
c.769T>A (p.Tyr257Asn)
c.595T>A (p.Tyr199Asn)
c.430T>A (p.Tyr144Asn)
11g.20628055T>CCA379917320SLC6A5c.1471T>C (p.Tyr491His)
c.*768T>C (n.*768T>C)
c.769T>C (p.Tyr257His)
c.595T>C (p.Tyr199His)
c.430T>C (p.Tyr144His)
 gnomAD v4
11g.20628055T>GCA379917319SLC6A5c.1471T>G (p.Tyr491Asp)
c.*768T>G (n.*768T>G)
c.769T>G (p.Tyr257Asp)
c.595T>G (p.Tyr199Asp)
c.430T>G (p.Tyr144Asp)
11g.20628056A=CA1956619763SLC6A5c.1472A= (p.Tyr491=)
c.*769A= (n.*769A=)
c.770A= (p.Tyr257=)
c.596A= (p.Tyr199=)
c.431A= (p.Tyr144=)
11g.20628056A>CCA379917321SLC6A5c.1472A>C (p.Tyr491Ser)
c.*769A>C (n.*769A>C)
c.770A>C (p.Tyr257Ser)
c.596A>C (p.Tyr199Ser)
c.431A>C (p.Tyr144Ser)
11g.20628056A>GCA340453SLC6A5c.1472A>G (p.Tyr491Cys)
c.*769A>G (n.*769A>G)
c.770A>G (p.Tyr257Cys)
c.596A>G (p.Tyr199Cys)
c.431A>G (p.Tyr144Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628056A>TCA379917322SLC6A5c.1472A>T (p.Tyr491Phe)
c.*769A>T (n.*769A>T)
c.770A>T (p.Tyr257Phe)
c.596A>T (p.Tyr199Phe)
c.431A>T (p.Tyr144Phe)
11g.20628057C>ACA379917323SLC6A5c.1473C>A (p.Tyr491Ter)
c.*770C>A (n.*770C>A)
c.771C>A (p.Tyr257Ter)
c.597C>A (p.Tyr199Ter)
c.432C>A (p.Tyr144Ter)
 dbSNP
11g.20628057C=CA1956619764SLC6A5c.1473C= (p.Tyr491=)
c.*770C= (n.*770C=)
c.771C= (p.Tyr257=)
c.597C= (p.Tyr199=)
c.432C= (p.Tyr144=)
11g.20628057C>GCA379917324SLC6A5c.1473C>G (p.Tyr491Ter)
c.*770C>G (n.*770C>G)
c.771C>G (p.Tyr257Ter)
c.597C>G (p.Tyr199Ter)
c.432C>G (p.Tyr144Ter)
11g.20628057C>TCA473404265SLC6A5c.1473C>T (p.Tyr491=)
c.*770C>T (n.*770C>T)
c.771C>T (p.Tyr257=)
c.597C>T (p.Tyr199=)
c.432C>T (p.Tyr144=)
 ClinVar gnomAD v4
11g.20628058A>CCA379917325SLC6A5c.1474A>C (p.Asn492His)
c.*771A>C (n.*771A>C)
c.772A>C (p.Asn258His)
c.598A>C (p.Asn200His)
c.433A>C (p.Asn145His)
11g.20628058A>GCA379917326SLC6A5c.1474A>G (p.Asn492Asp)
c.*771A>G (n.*771A>G)
c.772A>G (p.Asn258Asp)
c.598A>G (p.Asn200Asp)
c.433A>G (p.Asn145Asp)
11g.20628058A>TCA379917327SLC6A5c.1474A>T (p.Asn492Tyr)
c.*771A>T (n.*771A>T)
c.772A>T (p.Asn258Tyr)
c.598A>T (p.Asn200Tyr)
c.433A>T (p.Asn145Tyr)
11g.20628059A=CA1956619765SLC6A5c.1475A= (p.Asn492=)
c.*772A= (n.*772A=)
c.773A= (p.Asn258=)
c.599A= (p.Asn200=)
c.434A= (p.Asn145=)
11g.20628059A>CCA379917328SLC6A5c.1475A>C (p.Asn492Thr)
c.*772A>C (n.*772A>C)
c.773A>C (p.Asn258Thr)
c.599A>C (p.Asn200Thr)
c.434A>C (p.Asn145Thr)
11g.20628059A>GCA379917329SLC6A5c.1475A>G (p.Asn492Ser)
c.*772A>G (n.*772A>G)
c.773A>G (p.Asn258Ser)
c.599A>G (p.Asn200Ser)
c.434A>G (p.Asn145Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.20628059A>TCA379917330SLC6A5c.1475A>T (p.Asn492Ile)
c.*772A>T (n.*772A>T)
c.773A>T (p.Asn258Ile)
c.599A>T (p.Asn200Ile)
c.434A>T (p.Asn145Ile)
11g.20628060C>ACA379917331SLC6A5c.1476C>A (p.Asn492Lys)
c.*773C>A (n.*773C>A)
c.774C>A (p.Asn258Lys)
c.600C>A (p.Asn200Lys)
c.435C>A (p.Asn145Lys)
11g.20628060C=CA1956619766SLC6A5c.1476C= (p.Asn492=)
c.*773C= (n.*773C=)
c.774C= (p.Asn258=)
c.600C= (p.Asn200=)
c.435C= (p.Asn145=)
11g.20628060C>GCA379917332SLC6A5c.1476C>G (p.Asn492Lys)
c.*773C>G (n.*773C>G)
c.774C>G (p.Asn258Lys)
c.600C>G (p.Asn200Lys)
c.435C>G (p.Asn145Lys)
11g.20628060C>TCA473404266SLC6A5c.1476C>T (p.Asn492=)
c.*773C>T (n.*773C>T)
c.774C>T (p.Asn258=)
c.600C>T (p.Asn200=)
c.435C>T (p.Asn145=)
 dbSNP
11g.20628061A=CA1956619767SLC6A5c.1477A= (p.Lys493=)
c.*774A= (n.*774A=)
c.775A= (p.Lys259=)
c.601A= (p.Lys201=)
c.436A= (p.Lys146=)
11g.20628061A>CCA379917334SLC6A5c.1477A>C (p.Lys493Gln)
c.*774A>C (n.*774A>C)
c.775A>C (p.Lys259Gln)
c.601A>C (p.Lys201Gln)
c.436A>C (p.Lys146Gln)
11g.20628061A>GCA5921458SLC6A5c.1477A>G (p.Lys493Glu)
c.*774A>G (n.*774A>G)
c.775A>G (p.Lys259Glu)
c.601A>G (p.Lys201Glu)
c.436A>G (p.Lys146Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628061A>TCA379917333SLC6A5c.1477A>T (p.Lys493Ter)
c.*774A>T (n.*774A>T)
c.775A>T (p.Lys259Ter)
c.601A>T (p.Lys201Ter)
c.436A>T (p.Lys146Ter)
11g.20628062A>CCA379917335SLC6A5c.1478A>C (p.Lys493Thr)
c.*775A>C (n.*775A>C)
c.776A>C (p.Lys259Thr)
c.602A>C (p.Lys201Thr)
c.437A>C (p.Lys146Thr)
11g.20628062A>GCA379917336SLC6A5c.1478A>G (p.Lys493Arg)
c.*775A>G (n.*775A>G)
c.776A>G (p.Lys259Arg)
c.602A>G (p.Lys201Arg)
c.437A>G (p.Lys146Arg)
11g.20628062A>TCA379917337SLC6A5c.1478A>T (p.Lys493Ile)
c.*775A>T (n.*775A>T)
c.776A>T (p.Lys259Ile)
c.602A>T (p.Lys201Ile)
c.437A>T (p.Lys146Ile)
 gnomAD v4
11g.20628063A>CCA379917338SLC6A5c.1479A>C (p.Lys493Asn)
c.*776A>C (n.*776A>C)
c.777A>C (p.Lys259Asn)
c.603A>C (p.Lys201Asn)
c.438A>C (p.Lys146Asn)
11g.20628063A>GCA473404268SLC6A5c.1479A>G (p.Lys493=)
c.*776A>G (n.*776A>G)
c.777A>G (p.Lys259=)
c.603A>G (p.Lys201=)
c.438A>G (p.Lys146=)
11g.20628063A>TCA379917339SLC6A5c.1479A>T (p.Lys493Asn)
c.*776A>T (n.*776A>T)
c.777A>T (p.Lys259Asn)
c.603A>T (p.Lys201Asn)
c.438A>T (p.Lys146Asn)
11g.20628064T>ACA379917340SLC6A5c.1480T>A (p.Phe494Ile)
c.*777T>A (n.*777T>A)
c.778T>A (p.Phe260Ile)
c.604T>A (p.Phe202Ile)
c.439T>A (p.Phe147Ile)
 COSMIC
11g.20628064T>CCA379917341SLC6A5c.1480T>C (p.Phe494Leu)
c.*777T>C (n.*777T>C)
c.778T>C (p.Phe260Leu)
c.604T>C (p.Phe202Leu)
c.439T>C (p.Phe147Leu)
11g.20628064T>GCA379917342SLC6A5c.1480T>G (p.Phe494Val)
c.*777T>G (n.*777T>G)
c.778T>G (p.Phe260Val)
c.604T>G (p.Phe202Val)
c.439T>G (p.Phe147Val)
11g.20628065T>ACA379917343SLC6A5c.1481T>A (p.Phe494Tyr)
c.*778T>A (n.*778T>A)
c.779T>A (p.Phe260Tyr)
c.605T>A (p.Phe202Tyr)
c.440T>A (p.Phe147Tyr)
11g.20628065T>CCA379917344SLC6A5c.1481T>C (p.Phe494Ser)
c.*778T>C (n.*778T>C)
c.779T>C (p.Phe260Ser)
c.605T>C (p.Phe202Ser)
c.440T>C (p.Phe147Ser)
11g.20628065T>GCA379917345SLC6A5c.1481T>G (p.Phe494Cys)
c.*778T>G (n.*778T>G)
c.779T>G (p.Phe260Cys)
c.605T>G (p.Phe202Cys)
c.440T>G (p.Phe147Cys)
 dbSNP
11g.20628065T=CA1956619768SLC6A5c.1481T= (p.Phe494=)
c.*778T= (n.*778T=)
c.779T= (p.Phe260=)
c.605T= (p.Phe202=)
c.440T= (p.Phe147=)
11g.20628066C>ACA379917347SLC6A5c.1482C>A (p.Phe494Leu)
c.*779C>A (n.*779C>A)
c.780C>A (p.Phe260Leu)
c.606C>A (p.Phe202Leu)
c.441C>A (p.Phe147Leu)
11g.20628066C>GCA379917346SLC6A5c.1482C>G (p.Phe494Leu)
c.*779C>G (n.*779C>G)
c.780C>G (p.Phe260Leu)
c.606C>G (p.Phe202Leu)
c.441C>G (p.Phe147Leu)
11g.20628066C>TCA473404271SLC6A5c.1482C>T (p.Phe494=)
c.*779C>T (n.*779C>T)
c.780C>T (p.Phe260=)
c.606C>T (p.Phe202=)
c.441C>T (p.Phe147=)
11g.20628067C>ACA379917348SLC6A5c.1483C>A (p.His495Asn)
c.*780C>A (n.*780C>A)
c.781C>A (p.His261Asn)
c.607C>A (p.His203Asn)
c.442C>A (p.His148Asn)
11g.20628067C>GCA379917349SLC6A5c.1483C>G (p.His495Asp)
c.*780C>G (n.*780C>G)
c.781C>G (p.His261Asp)
c.607C>G (p.His203Asp)
c.442C>G (p.His148Asp)
11g.20628067C>TCA379917350SLC6A5c.1483C>T (p.His495Tyr)
c.*780C>T (n.*780C>T)
c.781C>T (p.His261Tyr)
c.607C>T (p.His203Tyr)
c.442C>T (p.His148Tyr)
11g.20628068A=CA1956619769SLC6A5c.1484A= (p.His495=)
c.*781A= (n.*781A=)
c.782A= (p.His261=)
c.608A= (p.His203=)
c.443A= (p.His148=)
11g.20628068A>CCA379917351SLC6A5c.1484A>C (p.His495Pro)
c.*781A>C (n.*781A>C)
c.782A>C (p.His261Pro)
c.608A>C (p.His203Pro)
c.443A>C (p.His148Pro)
11g.20628068A>GCA5921459SLC6A5c.1484A>G (p.His495Arg)
c.*781A>G (n.*781A>G)
c.782A>G (p.His261Arg)
c.608A>G (p.His203Arg)
c.443A>G (p.His148Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628068A>TCA379917352SLC6A5c.1484A>T (p.His495Leu)
c.*781A>T (n.*781A>T)
c.782A>T (p.His261Leu)
c.608A>T (p.His203Leu)
c.443A>T (p.His148Leu)
11g.20628073_20628075delCA2580615646SLC6A5c.1489_1491del (p.Asn497del)
c.*786_*788del (n.*786_*788del)
c.787_789del (p.Asn263del)
c.613_615del (p.Asn205del)
c.448_450del (p.Asn150del)
 ClinVar dbSNP gnomAD v4
11g.20628069C>ACA379917353SLC6A5c.1485C>A (p.His495Gln)
c.*782C>A (n.*782C>A)
c.783C>A (p.His261Gln)
c.609C>A (p.His203Gln)
c.444C>A (p.His148Gln)
11g.20628069C>GCA379917354SLC6A5c.1485C>G (p.His495Gln)
c.*782C>G (n.*782C>G)
c.783C>G (p.His261Gln)
c.609C>G (p.His203Gln)
c.444C>G (p.His148Gln)
11g.20628069C>TCA473404273SLC6A5c.1485C>T (p.His495=)
c.*782C>T (n.*782C>T)
c.783C>T (p.His261=)
c.609C>T (p.His203=)
c.444C>T (p.His148=)
 gnomAD v4
11g.20628070A>CCA379917355SLC6A5c.1486A>C (p.Asn496His)
c.*783A>C (n.*783A>C)
c.784A>C (p.Asn262His)
c.610A>C (p.Asn204His)
c.445A>C (p.Asn149His)
11g.20628070A>GCA379917356SLC6A5c.1486A>G (p.Asn496Asp)
c.*783A>G (n.*783A>G)
c.784A>G (p.Asn262Asp)
c.610A>G (p.Asn204Asp)
c.445A>G (p.Asn149Asp)
11g.20628070A>TCA379917357SLC6A5c.1486A>T (p.Asn496Tyr)
c.*783A>T (n.*783A>T)
c.784A>T (p.Asn262Tyr)
c.610A>T (p.Asn204Tyr)
c.445A>T (p.Asn149Tyr)
11g.20628071A=CA1956619770SLC6A5c.1487A= (p.Asn496=)
c.*784A= (n.*784A=)
c.785A= (p.Asn262=)
c.611A= (p.Asn204=)
c.446A= (p.Asn149=)
11g.20628071A>CCA379917360SLC6A5c.1487A>C (p.Asn496Thr)
c.*784A>C (n.*784A>C)
c.785A>C (p.Asn262Thr)
c.611A>C (p.Asn204Thr)
c.446A>C (p.Asn149Thr)
11g.20628071A>GCA379917359SLC6A5c.1487A>G (p.Asn496Ser)
c.*784A>G (n.*784A>G)
c.785A>G (p.Asn262Ser)
c.611A>G (p.Asn204Ser)
c.446A>G (p.Asn149Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.20628071A>TCA379917358SLC6A5c.1487A>T (p.Asn496Ile)
c.*784A>T (n.*784A>T)
c.785A>T (p.Asn262Ile)
c.611A>T (p.Asn204Ile)
c.446A>T (p.Asn149Ile)
11g.20628072C>ACA379917361SLC6A5c.1488C>A (p.Asn496Lys)
c.*785C>A (n.*785C>A)
c.786C>A (p.Asn262Lys)
c.612C>A (p.Asn204Lys)
c.447C>A (p.Asn149Lys)
11g.20628072C>GCA379917362SLC6A5c.1488C>G (p.Asn496Lys)
c.*785C>G (n.*785C>G)
c.786C>G (p.Asn262Lys)
c.612C>G (p.Asn204Lys)
c.447C>G (p.Asn149Lys)
11g.20628072C>TCA473404275SLC6A5c.1488C>T (p.Asn496=)
c.*785C>T (n.*785C>T)
c.786C>T (p.Asn262=)
c.612C>T (p.Asn204=)
c.447C>T (p.Asn149=)
11g.20628073A>CCA379917363SLC6A5c.1489A>C (p.Asn497His)
c.*786A>C (n.*786A>C)
c.787A>C (p.Asn263His)
c.613A>C (p.Asn205His)
c.448A>C (p.Asn150His)
11g.20628073A>GCA379917364SLC6A5c.1489A>G (p.Asn497Asp)
c.*786A>G (n.*786A>G)
c.787A>G (p.Asn263Asp)
c.613A>G (p.Asn205Asp)
c.448A>G (p.Asn150Asp)
11g.20628073A>TCA379917365SLC6A5c.1489A>T (p.Asn497Tyr)
c.*786A>T (n.*786A>T)
c.787A>T (p.Asn263Tyr)
c.613A>T (p.Asn205Tyr)
c.448A>T (p.Asn150Tyr)
11g.20628074A>CCA379917366SLC6A5c.1490A>C (p.Asn497Thr)
c.*787A>C (n.*787A>C)
c.788A>C (p.Asn263Thr)
c.614A>C (p.Asn205Thr)
c.449A>C (p.Asn150Thr)
11g.20628074A>GCA379917367SLC6A5c.1490A>G (p.Asn497Ser)
c.*787A>G (n.*787A>G)
c.788A>G (p.Asn263Ser)
c.614A>G (p.Asn205Ser)
c.449A>G (p.Asn150Ser)
11g.20628074A>TCA379917368SLC6A5c.1490A>T (p.Asn497Ile)
c.*787A>T (n.*787A>T)
c.788A>T (p.Asn263Ile)
c.614A>T (p.Asn205Ile)
c.449A>T (p.Asn150Ile)
11g.20628075C>ACA379917369SLC6A5c.1491C>A (p.Asn497Lys)
c.*788C>A (n.*788C>A)
c.789C>A (p.Asn263Lys)
c.615C>A (p.Asn205Lys)
c.450C>A (p.Asn150Lys)
 dbSNP gnomAD v3 gnomAD v4
11g.20628075C=CA1956619771SLC6A5c.1491C= (p.Asn497=)
c.*788C= (n.*788C=)
c.789C= (p.Asn263=)
c.615C= (p.Asn205=)
c.450C= (p.Asn150=)
11g.20628075C>GCA379917370SLC6A5c.1491C>G (p.Asn497Lys)
c.*788C>G (n.*788C>G)
c.789C>G (p.Asn263Lys)
c.615C>G (p.Asn205Lys)
c.450C>G (p.Asn150Lys)
11g.20628075C>TCA473404276SLC6A5c.1491C>T (p.Asn497=)
c.*788C>T (n.*788C>T)
c.789C>T (p.Asn263=)
c.615C>T (p.Asn205=)
c.450C>T (p.Asn150=)
 dbSNP gnomAD v3 gnomAD v4
11g.20628076T>ACA379917371SLC6A5c.1492T>A (p.Cys498Ser)
c.*789T>A (n.*789T>A)
c.790T>A (p.Cys264Ser)
c.616T>A (p.Cys206Ser)
c.451T>A (p.Cys151Ser)
11g.20628076T>CCA379917372SLC6A5c.1492T>C (p.Cys498Arg)
c.*789T>C (n.*789T>C)
c.790T>C (p.Cys264Arg)
c.616T>C (p.Cys206Arg)
c.451T>C (p.Cys151Arg)
11g.20628076T>GCA379917373SLC6A5c.1492T>G (p.Cys498Gly)
c.*789T>G (n.*789T>G)
c.790T>G (p.Cys264Gly)
c.616T>G (p.Cys206Gly)
c.451T>G (p.Cys151Gly)
11g.20628077G>ACA5921460SLC6A5c.1493G>A (p.Cys498Tyr)
c.*790G>A (n.*790G>A)
c.791G>A (p.Cys264Tyr)
c.617G>A (p.Cys206Tyr)
c.452G>A (p.Cys151Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628077G>CCA379917375SLC6A5c.1493G>C (p.Cys498Ser)
c.*790G>C (n.*790G>C)
c.791G>C (p.Cys264Ser)
c.617G>C (p.Cys206Ser)
c.452G>C (p.Cys151Ser)
11g.20628077G=CA1956619772SLC6A5c.1493G= (p.Cys498=)
c.*790G= (n.*790G=)
c.791G= (p.Cys264=)
c.617G= (p.Cys206=)
c.452G= (p.Cys151=)
11g.20628077G>TCA379917374SLC6A5c.1493G>T (p.Cys498Phe)
c.*790G>T (n.*790G>T)
c.791G>T (p.Cys264Phe)
c.617G>T (p.Cys206Phe)
c.452G>T (p.Cys151Phe)
11g.20628078C>ACA379917377SLC6A5c.1494C>A (p.Cys498Ter)
c.*791C>A (n.*791C>A)
c.792C>A (p.Cys264Ter)
c.618C>A (p.Cys206Ter)
c.453C>A (p.Cys151Ter)
11g.20628078C>GCA379917376SLC6A5c.1494C>G (p.Cys498Trp)
c.*791C>G (n.*791C>G)
c.792C>G (p.Cys264Trp)
c.618C>G (p.Cys206Trp)
c.453C>G (p.Cys151Trp)
11g.20628078C>TCA473404279SLC6A5c.1494C>T (p.Cys498=)
c.*791C>T (n.*791C>T)
c.792C>T (p.Cys264=)
c.618C>T (p.Cys206=)
c.453C>T (p.Cys151=)
 dbSNP gnomAD v3 gnomAD v4
11g.20628079T>ACA379917378SLC6A5c.1495T>A (p.Tyr499Asn)
c.*792T>A (n.*792T>A)
c.793T>A (p.Tyr265Asn)
c.619T>A (p.Tyr207Asn)
c.454T>A (p.Tyr152Asn)
11g.20628079T>CCA379917379SLC6A5c.1495T>C (p.Tyr499His)
c.*792T>C (n.*792T>C)
c.793T>C (p.Tyr265His)
c.619T>C (p.Tyr207His)
c.454T>C (p.Tyr152His)
11g.20628079T>GCA379917380SLC6A5c.1495T>G (p.Tyr499Asp)
c.*792T>G (n.*792T>G)
c.793T>G (p.Tyr265Asp)
c.619T>G (p.Tyr207Asp)
c.454T>G (p.Tyr152Asp)
11g.20628080A=CA1956619773SLC6A5c.1496A= (p.Tyr499=)
c.*793A= (n.*793A=)
c.794A= (p.Tyr265=)
c.620A= (p.Tyr207=)
c.455A= (p.Tyr152=)
11g.20628080A>CCA379917381SLC6A5c.1496A>C (p.Tyr499Ser)
c.*793A>C (n.*793A>C)
c.794A>C (p.Tyr265Ser)
c.620A>C (p.Tyr207Ser)
c.455A>C (p.Tyr152Ser)
11g.20628080A>GCA5921462SLC6A5c.1496A>G (p.Tyr499Cys)
c.*793A>G (n.*793A>G)
c.794A>G (p.Tyr265Cys)
c.620A>G (p.Tyr207Cys)
c.455A>G (p.Tyr152Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628080A>TCA5921461SLC6A5c.1496A>T (p.Tyr499Phe)
c.*793A>T (n.*793A>T)
c.794A>T (p.Tyr265Phe)
c.620A>T (p.Tyr207Phe)
c.455A>T (p.Tyr152Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628081C>ACA379917382SLC6A5c.1497C>A (p.Tyr499Ter)
c.*794C>A (n.*794C>A)
c.795C>A (p.Tyr265Ter)
c.621C>A (p.Tyr207Ter)
c.456C>A (p.Tyr152Ter)
 COSMIC
11g.20628081C>GCA379917383SLC6A5c.1497C>G (p.Tyr499Ter)
c.*794C>G (n.*794C>G)
c.795C>G (p.Tyr265Ter)
c.621C>G (p.Tyr207Ter)
c.456C>G (p.Tyr152Ter)
11g.20628081C>TCA473404281SLC6A5c.1497C>T (p.Tyr499=)
c.*794C>T (n.*794C>T)
c.795C>T (p.Tyr265=)
c.621C>T (p.Tyr207=)
c.456C>T (p.Tyr152=)
 gnomAD v4
11g.20628082A>CCA473404282SLC6A5c.1498A>C (p.Arg500=)
c.*795A>C (n.*795A>C)
c.796A>C (p.Arg266=)
c.622A>C (p.Arg208=)
c.457A>C (p.Arg153=)
11g.20628082A>GCA379917384SLC6A5c.1498A>G (p.Arg500Gly)
c.*795A>G (n.*795A>G)
c.796A>G (p.Arg266Gly)
c.622A>G (p.Arg208Gly)
c.457A>G (p.Arg153Gly)
11g.20628082A>TCA379917385SLC6A5c.1498A>T (p.Arg500Trp)
c.*795A>T (n.*795A>T)
c.796A>T (p.Arg266Trp)
c.622A>T (p.Arg208Trp)
c.457A>T (p.Arg153Trp)
11g.20628083G>ACA379917386SLC6A5c.1499G>A (p.Arg500Lys)
c.*796G>A (n.*796G>A)
c.797G>A (p.Arg266Lys)
c.623G>A (p.Arg208Lys)
c.458G>A (p.Arg153Lys)
 gnomAD v4
11g.20628083G>CCA379917387SLC6A5c.1499G>C (p.Arg500Thr)
c.*796G>C (n.*796G>C)
c.797G>C (p.Arg266Thr)
c.623G>C (p.Arg208Thr)
c.458G>C (p.Arg153Thr)
11g.20628083G>TCA379917388SLC6A5c.1499G>T (p.Arg500Met)
c.*796G>T (n.*796G>T)
c.797G>T (p.Arg266Met)
c.623G>T (p.Arg208Met)
c.458G>T (p.Arg153Met)
11g.20628084G>ACA379917389SLC6A5c.1499+1G>A (n.1499+1G>A)
c.*796+1G>A (n.*796+1G>A)
c.797+1G>A (n.797+1G>A)
c.623+1G>A (n.623+1G>A)
c.458+1G>A (n.458+1G>A)
11g.20628084G>CCA379917391SLC6A5c.1499+1G>C (n.1499+1G>C)
c.*796+1G>C (n.*796+1G>C)
c.797+1G>C (n.797+1G>C)
c.623+1G>C (n.623+1G>C)
c.458+1G>C (n.458+1G>C)
11g.20628084G>TCA379917390SLC6A5c.1499+1G>T (n.1499+1G>T)
c.*796+1G>T (n.*796+1G>T)
c.797+1G>T (n.797+1G>T)
c.623+1G>T (n.623+1G>T)
c.458+1G>T (n.458+1G>T)
11g.20628085T>ACA379917392SLC6A5c.1499+2T>A (n.1499+2T>A)
c.*796+2T>A (n.*796+2T>A)
c.797+2T>A (n.797+2T>A)
c.623+2T>A (n.623+2T>A)
c.458+2T>A (n.458+2T>A)
11g.20628085T>CCA379917393SLC6A5c.1499+2T>C (n.1499+2T>C)
c.*796+2T>C (n.*796+2T>C)
c.797+2T>C (n.797+2T>C)
c.623+2T>C (n.623+2T>C)
c.458+2T>C (n.458+2T>C)
 dbSNP
11g.20628085T>GCA379917394SLC6A5c.1499+2T>G (n.1499+2T>G)
c.*796+2T>G (n.*796+2T>G)
c.797+2T>G (n.797+2T>G)
c.623+2T>G (n.623+2T>G)
c.458+2T>G (n.458+2T>G)
11g.20628085T=CA1956619774SLC6A5c.1499+2T= (n.1499+2T=)
c.*796+2T= (n.*796+2T=)
c.797+2T= (n.797+2T=)
c.623+2T= (n.623+2T=)
c.458+2T= (n.458+2T=)
11g.20628086A=CA1956619775SLC6A5c.1499+3A= (n.1499+3A=)
c.*796+3A= (n.*796+3A=)
c.797+3A= (n.797+3A=)
c.623+3A= (n.623+3A=)
c.458+3A= (n.458+3A=)
11g.20628086A>GCA597487314SLC6A5c.1499+3A>G (n.1499+3A>G)
c.*796+3A>G (n.*796+3A>G)
c.797+3A>G (n.797+3A>G)
c.623+3A>G (n.623+3A>G)
c.458+3A>G (n.458+3A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.20628087T>ACA5921463SLC6A5c.1499+4T>A (n.1499+4T>A)
c.*796+4T>A (n.*796+4T>A)
c.797+4T>A (n.797+4T>A)
c.623+4T>A (n.623+4T>A)
c.458+4T>A (n.458+4T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628087T>GCA2612827780SLC6A5c.1499+4T>G (n.1499+4T>G)
c.*796+4T>G (n.*796+4T>G)
c.797+4T>G (n.797+4T>G)
c.623+4T>G (n.623+4T>G)
c.458+4T>G (n.458+4T>G)
 gnomAD v4
11g.20628087T=CA1956619776SLC6A5c.1499+4T= (n.1499+4T=)
c.*796+4T= (n.*796+4T=)
c.797+4T= (n.797+4T=)
c.623+4T= (n.623+4T=)
c.458+4T= (n.458+4T=)
11g.20628087_20628088insAACA2612827781SLC6A5c.1499+4_1499+5insAA (n.1499+4_1499+5insAA)
c.*796+4_*796+5insAA (n.*796+4_*796+5insAA)
c.797+4_797+5insAA (n.797+4_797+5insAA)
c.623+4_623+5insAA (n.623+4_623+5insAA)
c.458+4_458+5insAA (n.458+4_458+5insAA)
 gnomAD v4
11g.20628088G>ACA5921464SLC6A5c.1499+5G>A (n.1499+5G>A)
c.*796+5G>A (n.*796+5G>A)
c.797+5G>A (n.797+5G>A)
c.623+5G>A (n.623+5G>A)
c.458+5G>A (n.458+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628088G=CA1956619777SLC6A5c.1499+5G= (n.1499+5G=)
c.*796+5G= (n.*796+5G=)
c.797+5G= (n.797+5G=)
c.623+5G= (n.623+5G=)
c.458+5G= (n.458+5G=)
11g.20628088G>TCA5921465SLC6A5c.1499+5G>T (n.1499+5G>T)
c.*796+5G>T (n.*796+5G>T)
c.797+5G>T (n.797+5G>T)
c.623+5G>T (n.623+5G>T)
c.458+5G>T (n.458+5G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628089T>CCA1956619779SLC6A5c.1499+6T>C (n.1499+6T>C)
c.*796+6T>C (n.*796+6T>C)
c.797+6T>C (n.797+6T>C)
c.623+6T>C (n.623+6T>C)
c.458+6T>C (n.458+6T>C)
 dbSNP gnomAD v4
11g.20628089T=CA1956619778SLC6A5c.1499+6T= (n.1499+6T=)
c.*796+6T= (n.*796+6T=)
c.797+6T= (n.797+6T=)
c.623+6T= (n.623+6T=)
c.458+6T= (n.458+6T=)
11g.20628090A>GCA2612827782SLC6A5c.1499+7A>G (n.1499+7A>G)
c.*796+7A>G (n.*796+7A>G)
c.797+7A>G (n.797+7A>G)
c.623+7A>G (n.623+7A>G)
c.458+7A>G (n.458+7A>G)
 gnomAD v4
11g.20628091G=CA1956619780SLC6A5c.1499+8G= (n.1499+8G=)
c.*796+8G= (n.*796+8G=)
c.797+8G= (n.797+8G=)
c.623+8G= (n.623+8G=)
c.458+8G= (n.458+8G=)
11g.20628091G>TCA597487315SLC6A5c.1499+8G>T (n.1499+8G>T)
c.*796+8G>T (n.*796+8G>T)
c.797+8G>T (n.797+8G>T)
c.623+8G>T (n.623+8G>T)
c.458+8G>T (n.458+8G>T)
 dbSNP gnomAD v2
11g.20628092A=CA1956619781SLC6A5c.1499+9A= (n.1499+9A=)
c.*796+9A= (n.*796+9A=)
c.797+9A= (n.797+9A=)
c.623+9A= (n.623+9A=)
c.458+9A= (n.458+9A=)
11g.20628092A>TCA5921466SLC6A5c.1499+9A>T (n.1499+9A>T)
c.*796+9A>T (n.*796+9A>T)
c.797+9A>T (n.797+9A>T)
c.623+9A>T (n.623+9A>T)
c.458+9A>T (n.458+9A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628093G>ACA597487316SLC6A5c.1499+10G>A (n.1499+10G>A)
c.*796+10G>A (n.*796+10G>A)
c.797+10G>A (n.797+10G>A)
c.623+10G>A (n.623+10G>A)
c.458+10G>A (n.458+10G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.20628093G=CA1956619782SLC6A5c.1499+10G= (n.1499+10G=)
c.*796+10G= (n.*796+10G=)
c.797+10G= (n.797+10G=)
c.623+10G= (n.623+10G=)
c.458+10G= (n.458+10G=)
11g.20628093G>TCA5921467SLC6A5c.1499+10G>T (n.1499+10G>T)
c.*796+10G>T (n.*796+10G>T)
c.797+10G>T (n.797+10G>T)
c.623+10G>T (n.623+10G>T)
c.458+10G>T (n.458+10G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628094G>ACA2612827783SLC6A5c.1499+11G>A (n.1499+11G>A)
c.*796+11G>A (n.*796+11G>A)
c.797+11G>A (n.797+11G>A)
c.623+11G>A (n.623+11G>A)
c.458+11G>A (n.458+11G>A)
 gnomAD v4
11g.20628096A=CA1956619783SLC6A5c.1499+13A= (n.1499+13A=)
c.*796+13A= (n.*796+13A=)
c.797+13A= (n.797+13A=)
c.623+13A= (n.623+13A=)
c.458+13A= (n.458+13A=)
11g.20628096A>GCA5921468SLC6A5c.1499+13A>G (n.1499+13A>G)
c.*796+13A>G (n.*796+13A>G)
c.797+13A>G (n.797+13A>G)
c.623+13A>G (n.623+13A>G)
c.458+13A>G (n.458+13A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628097C>ACA5921469SLC6A5c.1499+14C>A (n.1499+14C>A)
c.*796+14C>A (n.*796+14C>A)
c.797+14C>A (n.797+14C>A)
c.623+14C>A (n.623+14C>A)
c.458+14C>A (n.458+14C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628097C=CA1956619784SLC6A5c.1499+14C= (n.1499+14C=)
c.*796+14C= (n.*796+14C=)
c.797+14C= (n.797+14C=)
c.623+14C= (n.623+14C=)
c.458+14C= (n.458+14C=)
11g.20628097C>GCA5921470SLC6A5c.1499+14C>G (n.1499+14C>G)
c.*796+14C>G (n.*796+14C>G)
c.797+14C>G (n.797+14C>G)
c.623+14C>G (n.623+14C>G)
c.458+14C>G (n.458+14C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628098T>ACA2580996173SLC6A5c.1499+15T>A (n.1499+15T>A)
c.*796+15T>A (n.*796+15T>A)
c.797+15T>A (n.797+15T>A)
c.623+15T>A (n.623+15T>A)
c.458+15T>A (n.458+15T>A)
11g.20628098T>CCA5921471SLC6A5c.1499+15T>C (n.1499+15T>C)
c.*796+15T>C (n.*796+15T>C)
c.797+15T>C (n.797+15T>C)
c.623+15T>C (n.623+15T>C)
c.458+15T>C (n.458+15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628098T>GCA5921472SLC6A5c.1499+15T>G (n.1499+15T>G)
c.*796+15T>G (n.*796+15T>G)
c.797+15T>G (n.797+15T>G)
c.623+15T>G (n.623+15T>G)
c.458+15T>G (n.458+15T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628098T=CA1956619785SLC6A5c.1499+15T= (n.1499+15T=)
c.*796+15T= (n.*796+15T=)
c.797+15T= (n.797+15T=)
c.623+15T= (n.623+15T=)
c.458+15T= (n.458+15T=)
11g.20628099A>GCA2612827785SLC6A5c.1499+16A>G (n.1499+16A>G)
c.*796+16A>G (n.*796+16A>G)
c.797+16A>G (n.797+16A>G)
c.623+16A>G (n.623+16A>G)
c.458+16A>G (n.458+16A>G)
 gnomAD v4
11g.20628100C>ACA2612827786SLC6A5c.1499+17C>A (n.1499+17C>A)
c.*796+17C>A (n.*796+17C>A)
c.797+17C>A (n.797+17C>A)
c.623+17C>A (n.623+17C>A)
c.458+17C>A (n.458+17C>A)
 gnomAD v4
11g.20628100C=CA1956619786SLC6A5c.1499+17C= (n.1499+17C=)
c.*796+17C= (n.*796+17C=)
c.797+17C= (n.797+17C=)
c.623+17C= (n.623+17C=)
c.458+17C= (n.458+17C=)
11g.20628100C>GCA2574780338SLC6A5c.1499+17C>G (n.1499+17C>G)
c.*796+17C>G (n.*796+17C>G)
c.797+17C>G (n.797+17C>G)
c.623+17C>G (n.623+17C>G)
c.458+17C>G (n.458+17C>G)
11g.20628100C>TCA597487317SLC6A5c.1499+17C>T (n.1499+17C>T)
c.*796+17C>T (n.*796+17C>T)
c.797+17C>T (n.797+17C>T)
c.623+17C>T (n.623+17C>T)
c.458+17C>T (n.458+17C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.20628101A=CA1956619787SLC6A5c.1499+18A= (n.1499+18A=)
c.*796+18A= (n.*796+18A=)
c.797+18A= (n.797+18A=)
c.623+18A= (n.623+18A=)
c.458+18A= (n.458+18A=)
11g.20628101A>GCA597487318SLC6A5c.1499+18A>G (n.1499+18A>G)
c.*796+18A>G (n.*796+18A>G)
c.797+18A>G (n.797+18A>G)
c.623+18A>G (n.623+18A>G)
c.458+18A>G (n.458+18A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.20628104A=CA1956619788SLC6A5c.1499+21A= (n.1499+21A=)
c.*796+21A= (n.*796+21A=)
c.797+21A= (n.797+21A=)
c.623+21A= (n.623+21A=)
c.458+21A= (n.458+21A=)
11g.20628104A>TCA5921473SLC6A5c.1499+21A>T (n.1499+21A>T)
c.*796+21A>T (n.*796+21A>T)
c.797+21A>T (n.797+21A>T)
c.623+21A>T (n.623+21A>T)
c.458+21A>T (n.458+21A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628105T>ACA5921474SLC6A5c.1499+22T>A (n.1499+22T>A)
c.*796+22T>A (n.*796+22T>A)
c.797+22T>A (n.797+22T>A)
c.623+22T>A (n.623+22T>A)
c.458+22T>A (n.458+22T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628105T>CCA2612827787SLC6A5c.1499+22T>C (n.1499+22T>C)
c.*796+22T>C (n.*796+22T>C)
c.797+22T>C (n.797+22T>C)
c.623+22T>C (n.623+22T>C)
c.458+22T>C (n.458+22T>C)
 gnomAD v4
11g.20628105T=CA1956619789SLC6A5c.1499+22T= (n.1499+22T=)
c.*796+22T= (n.*796+22T=)
c.797+22T= (n.797+22T=)
c.623+22T= (n.623+22T=)
c.458+22T= (n.458+22T=)
11g.20628107_20628108delinsTGCA1956619790SLC6A5c.1499+24_1499+25delinsTG (n.1499+24_1499+25delinsTG)
c.*796+24_*796+25delinsTG (n.*796+24_*796+25delinsTG)
c.797+24_797+25delinsTG (n.797+24_797+25delinsTG)
c.623+24_623+25delinsTG (n.623+24_623+25delinsTG)
c.458+24_458+25delinsTG (n.458+24_458+25delinsTG)
11g.20628108G>ACA5921475SLC6A5c.1499+25G>A (n.1499+25G>A)
c.*796+25G>A (n.*796+25G>A)
c.797+25G>A (n.797+25G>A)
c.623+25G>A (n.623+25G>A)
c.458+25G>A (n.458+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628108G=CA1956619791SLC6A5c.1499+25G= (n.1499+25G=)
c.*796+25G= (n.*796+25G=)
c.797+25G= (n.797+25G=)
c.623+25G= (n.623+25G=)
c.458+25G= (n.458+25G=)
11g.20628110delCA674467451SLC6A5c.1499+27del (n.1499+27del)
c.*796+27del (n.*796+27del)
c.797+27del (n.797+27del)
c.623+27del (n.623+27del)
c.458+27del (n.458+27del)
 dbSNP
11g.20628109G>ACA2612827788SLC6A5c.1499+26G>A (n.1499+26G>A)
c.*796+26G>A (n.*796+26G>A)
c.797+26G>A (n.797+26G>A)
c.623+26G>A (n.623+26G>A)
c.458+26G>A (n.458+26G>A)
 gnomAD v4
11g.20628109G>CCA2612827789SLC6A5c.1499+26G>C (n.1499+26G>C)
c.*796+26G>C (n.*796+26G>C)
c.797+26G>C (n.797+26G>C)
c.623+26G>C (n.623+26G>C)
c.458+26G>C (n.458+26G>C)
 gnomAD v4
11g.20628110G>ACA1956619793SLC6A5c.1499+27G>A (n.1499+27G>A)
c.*796+27G>A (n.*796+27G>A)
c.797+27G>A (n.797+27G>A)
c.623+27G>A (n.623+27G>A)
c.458+27G>A (n.458+27G>A)
 dbSNP
11g.20628110G>CCA2612827790SLC6A5c.1499+27G>C (n.1499+27G>C)
c.*796+27G>C (n.*796+27G>C)
c.797+27G>C (n.797+27G>C)
c.623+27G>C (n.623+27G>C)
c.458+27G>C (n.458+27G>C)
 gnomAD v4
11g.20628110G=CA1956619792SLC6A5c.1499+27G= (n.1499+27G=)
c.*796+27G= (n.*796+27G=)
c.797+27G= (n.797+27G=)
c.623+27G= (n.623+27G=)
c.458+27G= (n.458+27G=)
11g.20628111C>ACA2612827791SLC6A5c.1499+28C>A (n.1499+28C>A)
c.*796+28C>A (n.*796+28C>A)
c.797+28C>A (n.797+28C>A)
c.623+28C>A (n.623+28C>A)
c.458+28C>A (n.458+28C>A)
 gnomAD v4
11g.20628111C=CA1956619794SLC6A5c.1499+28C= (n.1499+28C=)
c.*796+28C= (n.*796+28C=)
c.797+28C= (n.797+28C=)
c.623+28C= (n.623+28C=)
c.458+28C= (n.458+28C=)
11g.20628111C>TCA1956619795SLC6A5c.1499+28C>T (n.1499+28C>T)
c.*796+28C>T (n.*796+28C>T)
c.797+28C>T (n.797+28C>T)
c.623+28C>T (n.623+28C>T)
c.458+28C>T (n.458+28C>T)
 dbSNP
11g.20628113T>ACA1956619797SLC6A5c.1499+30T>A (n.1499+30T>A)
c.*796+30T>A (n.*796+30T>A)
c.797+30T>A (n.797+30T>A)
c.623+30T>A (n.623+30T>A)
c.458+30T>A (n.458+30T>A)
 dbSNP
11g.20628113T>CCA5921476SLC6A5c.1499+30T>C (n.1499+30T>C)
c.*796+30T>C (n.*796+30T>C)
c.797+30T>C (n.797+30T>C)
c.623+30T>C (n.623+30T>C)
c.458+30T>C (n.458+30T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628113T=CA1956619796SLC6A5c.1499+30T= (n.1499+30T=)
c.*796+30T= (n.*796+30T=)
c.797+30T= (n.797+30T=)
c.623+30T= (n.623+30T=)
c.458+30T= (n.458+30T=)
11g.20628114A>GCA2790674320SLC6A5c.1499+31A>G (n.1499+31A>G)
c.*796+31A>G (n.*796+31A>G)
c.797+31A>G (n.797+31A>G)
c.623+31A>G (n.623+31A>G)
c.458+31A>G (n.458+31A>G)
11g.20628114A>TCA2612827792SLC6A5c.1499+31A>T (n.1499+31A>T)
c.*796+31A>T (n.*796+31A>T)
c.797+31A>T (n.797+31A>T)
c.623+31A>T (n.623+31A>T)
c.458+31A>T (n.458+31A>T)
 gnomAD v4
11g.20628116_20628161dupCA935753358SLC6A5c.1499+33_1499+78dup (n.1499+33_1499+78dup)
c.*796+33_*796+78dup (n.*796+33_*796+78dup)
c.797+33_797+78dup (n.797+33_797+78dup)
c.623+33_623+78dup (n.623+33_623+78dup)
c.458+33_458+78dup (n.458+33_458+78dup)
 dbSNP gnomAD v3 gnomAD v4
11g.20628116C>ACA2574780339SLC6A5c.1499+33C>A (n.1499+33C>A)
c.*796+33C>A (n.*796+33C>A)
c.797+33C>A (n.797+33C>A)
c.623+33C>A (n.623+33C>A)
c.458+33C>A (n.458+33C>A)
 gnomAD v4
11g.20628117T>ACA5921477SLC6A5c.1499+34T>A (n.1499+34T>A)
c.*796+34T>A (n.*796+34T>A)
c.797+34T>A (n.797+34T>A)
c.623+34T>A (n.623+34T>A)
c.458+34T>A (n.458+34T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628117T=CA1956619798SLC6A5c.1499+34T= (n.1499+34T=)
c.*796+34T= (n.*796+34T=)
c.797+34T= (n.797+34T=)
c.623+34T= (n.623+34T=)
c.458+34T= (n.458+34T=)
11g.20628118G>ACA5921478SLC6A5c.1499+35G>A (n.1499+35G>A)
c.*796+35G>A (n.*796+35G>A)
c.797+35G>A (n.797+35G>A)
c.623+35G>A (n.623+35G>A)
c.458+35G>A (n.458+35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20628118G>CCA2612827793SLC6A5c.1499+35G>C (n.1499+35G>C)
c.*796+35G>C (n.*796+35G>C)
c.797+35G>C (n.797+35G>C)
c.623+35G>C (n.623+35G>C)
c.458+35G>C (n.458+35G>C)
 gnomAD v4
11g.20628118G=CA1956619799SLC6A5c.1499+35G= (n.1499+35G=)
c.*796+35G= (n.*796+35G=)
c.797+35G= (n.797+35G=)
c.623+35G= (n.623+35G=)
c.458+35G= (n.458+35G=)
11g.20628119G>ACA674467455SLC6A5c.1499+36G>A (n.1499+36G>A)
c.*796+36G>A (n.*796+36G>A)
c.797+36G>A (n.797+36G>A)
c.623+36G>A (n.623+36G>A)
c.458+36G>A (n.458+36G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.20628119G=CA1956619800SLC6A5c.1499+36G= (n.1499+36G=)
c.*796+36G= (n.*796+36G=)
c.797+36G= (n.797+36G=)
c.623+36G= (n.623+36G=)
c.458+36G= (n.458+36G=)

Number of alleles fetched