Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.20627956A=CA1956619708SLC6A5c.1396-24A= (n.1396-24A=)
c.*693-24A= (n.*693-24A=)
c.694-24A= (n.694-24A=)
c.520-24A= (n.520-24A=)
c.355-24A= (n.355-24A=)
11g.20627956A>GCA674467179SLC6A5c.1396-24A>G (n.1396-24A>G)
c.*693-24A>G (n.*693-24A>G)
c.694-24A>G (n.694-24A>G)
c.520-24A>G (n.520-24A>G)
c.355-24A>G (n.355-24A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.20627956_20627958delinsATCCA1956619707SLC6A5c.1396-24_1396-22delinsATC (n.1396-24_1396-22delinsATC)
c.*693-24_*693-22delinsATC (n.*693-24_*693-22delinsATC)
c.694-24_694-22delinsATC (n.694-24_694-22delinsATC)
c.520-24_520-22delinsATC (n.520-24_520-22delinsATC)
c.355-24_355-22delinsATC (n.355-24_355-22delinsATC)
11g.20627960_20627961delCA674467183SLC6A5c.1396-20_1396-19del (n.1396-20_1396-19del)
c.*693-20_*693-19del (n.*693-20_*693-19del)
c.694-20_694-19del (n.694-20_694-19del)
c.520-20_520-19del (n.520-20_520-19del)
c.355-20_355-19del (n.355-20_355-19del)
 dbSNP
11g.20627958C>ACA2612827761SLC6A5c.1396-22C>A (n.1396-22C>A)
c.*693-22C>A (n.*693-22C>A)
c.694-22C>A (n.694-22C>A)
c.520-22C>A (n.520-22C>A)
c.355-22C>A (n.355-22C>A)
 gnomAD v4
11g.20627958C>TCA2723533705SLC6A5c.1396-22C>T (n.1396-22C>T)
c.*693-22C>T (n.*693-22C>T)
c.694-22C>T (n.694-22C>T)
c.520-22C>T (n.520-22C>T)
c.355-22C>T (n.355-22C>T)
 dbSNP
11g.20627959T>GCA2612827763SLC6A5c.1396-21T>G (n.1396-21T>G)
c.*693-21T>G (n.*693-21T>G)
c.694-21T>G (n.694-21T>G)
c.520-21T>G (n.520-21T>G)
c.355-21T>G (n.355-21T>G)
 gnomAD v4
11g.20627961_20627964delCA2612827762SLC6A5c.1396-19_1396-16del (n.1396-19_1396-16del)
c.*693-19_*693-16del (n.*693-19_*693-16del)
c.694-19_694-16del (n.694-19_694-16del)
c.520-19_520-16del (n.520-19_520-16del)
c.355-19_355-16del (n.355-19_355-16del)
 gnomAD v4
11g.20627961T>ACA2739270377SLC6A5c.1396-19T>A (n.1396-19T>A)
c.*693-19T>A (n.*693-19T>A)
c.694-19T>A (n.694-19T>A)
c.520-19T>A (n.520-19T>A)
c.355-19T>A (n.355-19T>A)
 ClinVar
11g.20627961T>CCA2517025144SLC6A5c.1396-19T>C (n.1396-19T>C)
c.*693-19T>C (n.*693-19T>C)
c.694-19T>C (n.694-19T>C)
c.520-19T>C (n.520-19T>C)
c.355-19T>C (n.355-19T>C)
 gnomAD v4
11g.20627963T>ACA2612827764SLC6A5c.1396-17T>A (n.1396-17T>A)
c.*693-17T>A (n.*693-17T>A)
c.694-17T>A (n.694-17T>A)
c.520-17T>A (n.520-17T>A)
c.355-17T>A (n.355-17T>A)
 gnomAD v4
11g.20627964C>ACA2612827765SLC6A5c.1396-16C>A (n.1396-16C>A)
c.*693-16C>A (n.*693-16C>A)
c.694-16C>A (n.694-16C>A)
c.520-16C>A (n.520-16C>A)
c.355-16C>A (n.355-16C>A)
 gnomAD v4
11g.20627964C>GCA2573146131SLC6A5c.1396-16C>G (n.1396-16C>G)
c.*693-16C>G (n.*693-16C>G)
c.694-16C>G (n.694-16C>G)
c.520-16C>G (n.520-16C>G)
c.355-16C>G (n.355-16C>G)
 ClinVar dbSNP
11g.20627965C=CA1956619709SLC6A5c.1396-15C= (n.1396-15C=)
c.*693-15C= (n.*693-15C=)
c.694-15C= (n.694-15C=)
c.520-15C= (n.520-15C=)
c.355-15C= (n.355-15C=)
11g.20627965C>TCA5921443SLC6A5c.1396-15C>T (n.1396-15C>T)
c.*693-15C>T (n.*693-15C>T)
c.694-15C>T (n.694-15C>T)
c.520-15C>T (n.520-15C>T)
c.355-15C>T (n.355-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.20627966_20627967delinsCTCA1956619710SLC6A5c.1396-14_1396-13delinsCT (n.1396-14_1396-13delinsCT)
c.*693-14_*693-13delinsCT (n.*693-14_*693-13delinsCT)
c.694-14_694-13delinsCT (n.694-14_694-13delinsCT)
c.520-14_520-13delinsCT (n.520-14_520-13delinsCT)
c.355-14_355-13delinsCT (n.355-14_355-13delinsCT)
11g.20627967T>ACA2739270378SLC6A5c.1396-13T>A (n.1396-13T>A)
c.*693-13T>A (n.*693-13T>A)
c.694-13T>A (n.694-13T>A)
c.520-13T>A (n.520-13T>A)
c.355-13T>A (n.355-13T>A)
 ClinVar
11g.20627967T>CCA2612827767SLC6A5c.1396-13T>C (n.1396-13T>C)
c.*693-13T>C (n.*693-13T>C)
c.694-13T>C (n.694-13T>C)
c.520-13T>C (n.520-13T>C)
c.355-13T>C (n.355-13T>C)
 gnomAD v4
11g.20627970delCA5921444SLC6A5c.1396-10del (n.1396-10del)
c.*693-10del (n.*693-10del)
c.694-10del (n.694-10del)
c.520-10del (n.520-10del)
c.355-10del (n.355-10del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20627968T>CCA597487308SLC6A5c.1396-12T>C (n.1396-12T>C)
c.*693-12T>C (n.*693-12T>C)
c.694-12T>C (n.694-12T>C)
c.520-12T>C (n.520-12T>C)
c.355-12T>C (n.355-12T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.20627968T=CA1956619711SLC6A5c.1396-12T= (n.1396-12T=)
c.*693-12T= (n.*693-12T=)
c.694-12T= (n.694-12T=)
c.520-12T= (n.520-12T=)
c.355-12T= (n.355-12T=)
11g.20627969T>CCA2723533731SLC6A5c.1396-11T>C (n.1396-11T>C)
c.*693-11T>C (n.*693-11T>C)
c.694-11T>C (n.694-11T>C)
c.520-11T>C (n.520-11T>C)
c.355-11T>C (n.355-11T>C)
 dbSNP
11g.20627970_20627971delinsTGCA1956619712SLC6A5c.1396-10_1396-9delinsTG (n.1396-10_1396-9delinsTG)
c.*693-10_*693-9delinsTG (n.*693-10_*693-9delinsTG)
c.694-10_694-9delinsTG (n.694-10_694-9delinsTG)
c.520-10_520-9delinsTG (n.520-10_520-9delinsTG)
c.355-10_355-9delinsTG (n.355-10_355-9delinsTG)
11g.20627971delCA1956619713SLC6A5c.1396-9del (n.1396-9del)
c.*693-9del (n.*693-9del)
c.694-9del (n.694-9del)
c.520-9del (n.520-9del)
c.355-9del (n.355-9del)
 dbSNP
11g.20627971G>ACA2612827768SLC6A5c.1396-9G>A (n.1396-9G>A)
c.*693-9G>A (n.*693-9G>A)
c.694-9G>A (n.694-9G>A)
c.520-9G>A (n.520-9G>A)
c.355-9G>A (n.355-9G>A)
 gnomAD v4
11g.20627971G>CCA597487309SLC6A5c.1396-9G>C (n.1396-9G>C)
c.*693-9G>C (n.*693-9G>C)
c.694-9G>C (n.694-9G>C)
c.520-9G>C (n.520-9G>C)
c.355-9G>C (n.355-9G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.20627971G=CA1956619714SLC6A5c.1396-9G= (n.1396-9G=)
c.*693-9G= (n.*693-9G=)
c.694-9G= (n.694-9G=)
c.520-9G= (n.520-9G=)
c.355-9G= (n.355-9G=)
11g.20627971_20627972insAATCA597487310SLC6A5c.1396-9_1396-8insAAT (n.1396-9_1396-8insAAT)
c.*693-9_*693-8insAAT (n.*693-9_*693-8insAAT)
c.694-9_694-8insAAT (n.694-9_694-8insAAT)
c.520-9_520-8insAAT (n.520-9_520-8insAAT)
c.355-9_355-8insAAT (n.355-9_355-8insAAT)
 gnomAD v2 gnomAD v4
11g.20627972C>ACA1956619716SLC6A5c.1396-8C>A (n.1396-8C>A)
c.*693-8C>A (n.*693-8C>A)
c.694-8C>A (n.694-8C>A)
c.520-8C>A (n.520-8C>A)
c.355-8C>A (n.355-8C>A)
 dbSNP gnomAD v4
11g.20627972C=CA1956619715SLC6A5c.1396-8C= (n.1396-8C=)
c.*693-8C= (n.*693-8C=)
c.694-8C= (n.694-8C=)
c.520-8C= (n.520-8C=)
c.355-8C= (n.355-8C=)
11g.20627972C>TCA935753297SLC6A5c.1396-8C>T (n.1396-8C>T)
c.*693-8C>T (n.*693-8C>T)
c.694-8C>T (n.694-8C>T)
c.520-8C>T (n.520-8C>T)
c.355-8C>T (n.355-8C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.20627972_20627973insTCA597487311SLC6A5c.1396-8_1396-7insT (n.1396-8_1396-7insT)
c.*693-8_*693-7insT (n.*693-8_*693-7insT)
c.694-8_694-7insT (n.694-8_694-7insT)
c.520-8_520-7insT (n.520-8_520-7insT)
c.355-8_355-7insT (n.355-8_355-7insT)
 dbSNP gnomAD v2 gnomAD v4
11g.20627973C>ACA5921445SLC6A5c.1396-7C>A (n.1396-7C>A)
c.*693-7C>A (n.*693-7C>A)
c.694-7C>A (n.694-7C>A)
c.520-7C>A (n.520-7C>A)
c.355-7C>A (n.355-7C>A)
 ClinVar dbSNP ExAC gnomAD v2
11g.20627973C=CA1956619717SLC6A5c.1396-7C= (n.1396-7C=)
c.*693-7C= (n.*693-7C=)
c.694-7C= (n.694-7C=)
c.520-7C= (n.520-7C=)
c.355-7C= (n.355-7C=)
11g.20627973C>TCA597487312SLC6A5c.1396-7C>T (n.1396-7C>T)
c.*693-7C>T (n.*693-7C>T)
c.694-7C>T (n.694-7C>T)
c.520-7C>T (n.520-7C>T)
c.355-7C>T (n.355-7C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.20627976_20627977delCA2612827769SLC6A5c.1396-4_1396-3del (n.1396-4_1396-3del)
c.*693-4_*693-3del (n.*693-4_*693-3del)
c.694-4_694-3del (n.694-4_694-3del)
c.520-4_520-3del (n.520-4_520-3del)
c.355-4_355-3del (n.355-4_355-3del)
 gnomAD v4
11g.20627974T>CCA1956619718SLC6A5c.1396-6T>C (n.1396-6T>C)
c.*693-6T>C (n.*693-6T>C)
c.694-6T>C (n.694-6T>C)
c.520-6T>C (n.520-6T>C)
c.355-6T>C (n.355-6T>C)
 ClinVar dbSNP gnomAD v4
11g.20627974T=CA1956619719SLC6A5c.1396-6T= (n.1396-6T=)
c.*693-6T= (n.*693-6T=)
c.694-6T= (n.694-6T=)
c.520-6T= (n.520-6T=)
c.355-6T= (n.355-6T=)
11g.20627975C>ACA2580082887SLC6A5c.1396-5C>A (n.1396-5C>A)
c.*693-5C>A (n.*693-5C>A)
c.694-5C>A (n.694-5C>A)
c.520-5C>A (n.520-5C>A)
c.355-5C>A (n.355-5C>A)
 ClinVar gnomAD v4
11g.20627975C=CA1956619720SLC6A5c.1396-5C= (n.1396-5C=)
c.*693-5C= (n.*693-5C=)
c.694-5C= (n.694-5C=)
c.520-5C= (n.520-5C=)
c.355-5C= (n.355-5C=)
11g.20627975C>GCA1956619721SLC6A5c.1396-5C>G (n.1396-5C>G)
c.*693-5C>G (n.*693-5C>G)
c.694-5C>G (n.694-5C>G)
c.520-5C>G (n.520-5C>G)
c.355-5C>G (n.355-5C>G)
 dbSNP
11g.20627975C>TCA5921446SLC6A5c.1396-5C>T (n.1396-5C>T)
c.*693-5C>T (n.*693-5C>T)
c.694-5C>T (n.694-5C>T)
c.520-5C>T (n.520-5C>T)
c.355-5C>T (n.355-5C>T)
 dbSNP ExAC gnomAD v4
11g.20627975_20627980delCA2612827770SLC6A5c.1396-5_1396del
c.*693-5_*693del
c.694-5_694del
c.520-5_520del
c.355-5_355del
 gnomAD v4
11g.20627976T>CCA2612827772SLC6A5c.1396-4T>C (n.1396-4T>C)
c.*693-4T>C (n.*693-4T>C)
c.694-4T>C (n.694-4T>C)
c.520-4T>C (n.520-4T>C)
c.355-4T>C (n.355-4T>C)
 gnomAD v4
11g.20627978A=CA1956619722SLC6A5c.1396-2A= (n.1396-2A=)
c.*693-2A= (n.*693-2A=)
c.694-2A= (n.694-2A=)
c.520-2A= (n.520-2A=)
c.355-2A= (n.355-2A=)
11g.20627978A>CCA379917155SLC6A5c.1396-2A>C (n.1396-2A>C)
c.*693-2A>C (n.*693-2A>C)
c.694-2A>C (n.694-2A>C)
c.520-2A>C (n.520-2A>C)
c.355-2A>C (n.355-2A>C)
11g.20627978A>GCA379917154SLC6A5c.1396-2A>G (n.1396-2A>G)
c.*693-2A>G (n.*693-2A>G)
c.694-2A>G (n.694-2A>G)
c.520-2A>G (n.520-2A>G)
c.355-2A>G (n.355-2A>G)
 dbSNP gnomAD v4
11g.20627978A>TCA379917153SLC6A5c.1396-2A>T (n.1396-2A>T)
c.*693-2A>T (n.*693-2A>T)
c.694-2A>T (n.694-2A>T)
c.520-2A>T (n.520-2A>T)
c.355-2A>T (n.355-2A>T)
11g.20627979G>ACA5921447SLC6A5c.1396-1G>A (n.1396-1G>A)
c.*693-1G>A (n.*693-1G>A)
c.694-1G>A (n.694-1G>A)
c.520-1G>A (n.520-1G>A)
c.355-1G>A (n.355-1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.20627979G>CCA379917156SLC6A5c.1396-1G>C (n.1396-1G>C)
c.*693-1G>C (n.*693-1G>C)
c.694-1G>C (n.694-1G>C)
c.520-1G>C (n.520-1G>C)
c.355-1G>C (n.355-1G>C)
11g.20627979G=CA1956619723SLC6A5c.1396-1G= (n.1396-1G=)
c.*693-1G= (n.*693-1G=)
c.694-1G= (n.694-1G=)
c.520-1G= (n.520-1G=)
c.355-1G= (n.355-1G=)
11g.20627979G>TCA379917157SLC6A5c.1396-1G>T (n.1396-1G>T)
c.*693-1G>T (n.*693-1G>T)
c.694-1G>T (n.694-1G>T)
c.520-1G>T (n.520-1G>T)
c.355-1G>T (n.355-1G>T)
 dbSNP gnomAD v4
11g.20627980G>ACA379917158SLC6A5c.1396G>A (p.Val466Met)
c.*693G>A (n.*693G>A)
c.694G>A (p.Val232Met)
c.520G>A (p.Val174Met)
c.355G>A (p.Val119Met)
11g.20627980G>CCA379917159SLC6A5c.1396G>C (p.Val466Leu)
c.*693G>C (n.*693G>C)
c.694G>C (p.Val232Leu)
c.520G>C (p.Val174Leu)
c.355G>C (p.Val119Leu)
11g.20627980G=CA1956619724SLC6A5c.1396G= (p.Val466=)
c.*693G= (n.*693G=)
c.694G= (p.Val232=)
c.520G= (p.Val174=)
c.355G= (p.Val119=)
11g.20627980G>TCA5921448SLC6A5c.1396G>T (p.Val466Leu)
c.*693G>T (n.*693G>T)
c.694G>T (p.Val232Leu)
c.520G>T (p.Val174Leu)
c.355G>T (p.Val119Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20627981T>ACA379917160SLC6A5c.1397T>A (p.Val466Glu)
c.*694T>A (n.*694T>A)
c.695T>A (p.Val232Glu)
c.521T>A (p.Val174Glu)
c.356T>A (p.Val119Glu)
11g.20627981T>CCA379917161SLC6A5c.1397T>C (p.Val466Ala)
c.*694T>C (n.*694T>C)
c.695T>C (p.Val232Ala)
c.521T>C (p.Val174Ala)
c.356T>C (p.Val119Ala)
11g.20627981T>GCA379917162SLC6A5c.1397T>G (p.Val466Gly)
c.*694T>G (n.*694T>G)
c.695T>G (p.Val232Gly)
c.521T>G (p.Val174Gly)
c.356T>G (p.Val119Gly)
11g.20627982G>ACA473404207SLC6A5c.1398G>A (p.Val466=)
c.*695G>A (n.*695G>A)
c.696G>A (p.Val232=)
c.522G>A (p.Val174=)
c.357G>A (p.Val119=)
 dbSNP
11g.20627982G>CCA473404208SLC6A5c.1398G>C (p.Val466=)
c.*695G>C (n.*695G>C)
c.696G>C (p.Val232=)
c.522G>C (p.Val174=)
c.357G>C (p.Val119=)
11g.20627982G=CA1956619725SLC6A5c.1398G= (p.Val466=)
c.*695G= (n.*695G=)
c.696G= (p.Val232=)
c.522G= (p.Val174=)
c.357G= (p.Val119=)
11g.20627982G>TCA473404209SLC6A5c.1398G>T (p.Val466=)
c.*695G>T (n.*695G>T)
c.696G>T (p.Val232=)
c.522G>T (p.Val174=)
c.357G>T (p.Val119=)
11g.20627983T>ACA379917163SLC6A5c.1399T>A (p.Trp467Arg)
c.*696T>A (n.*696T>A)
c.697T>A (p.Trp233Arg)
c.523T>A (p.Trp175Arg)
c.358T>A (p.Trp120Arg)
11g.20627983T>CCA218739393SLC6A5c.1399T>C (p.Trp467Arg)
c.*696T>C (n.*696T>C)
c.697T>C (p.Trp233Arg)
c.523T>C (p.Trp175Arg)
c.358T>C (p.Trp120Arg)
 dbSNP
11g.20627983T>GCA379917164SLC6A5c.1399T>G (p.Trp467Gly)
c.*696T>G (n.*696T>G)
c.697T>G (p.Trp233Gly)
c.523T>G (p.Trp175Gly)
c.358T>G (p.Trp120Gly)
11g.20627983T=CA1956619727SLC6A5c.1399T= (p.Trp467=)
c.*696T= (n.*696T=)
c.697T= (p.Trp233=)
c.523T= (p.Trp175=)
c.358T= (p.Trp120=)
11g.20627983_20627984delinsTGCA1956619726SLC6A5c.1399_1400delinsTG (p.Trp467=)
c.*696_*697delinsTG (n.*696_*697delinsTG)
c.697_698delinsTG (p.Trp233=)
c.523_524delinsTG (p.Trp175=)
c.358_359delinsTG (p.Trp120=)
11g.20627984G>ACA218739404SLC6A5c.1400G>A (p.Trp467Ter)
c.*697G>A (n.*697G>A)
c.698G>A (p.Trp233Ter)
c.524G>A (p.Trp175Ter)
c.359G>A (p.Trp120Ter)
 dbSNP
11g.20627984G>CCA379917165SLC6A5c.1400G>C (p.Trp467Ser)
c.*697G>C (n.*697G>C)
c.698G>C (p.Trp233Ser)
c.524G>C (p.Trp175Ser)
c.359G>C (p.Trp120Ser)
 ClinVar
11g.20627984G=CA1956619728SLC6A5c.1400G= (p.Trp467=)
c.*697G= (n.*697G=)
c.698G= (p.Trp233=)
c.524G= (p.Trp175=)
c.359G= (p.Trp120=)
11g.20627984G>TCA379917166SLC6A5c.1400G>T (p.Trp467Leu)
c.*697G>T (n.*697G>T)
c.698G>T (p.Trp233Leu)
c.524G>T (p.Trp175Leu)
c.359G>T (p.Trp120Leu)
11g.20627985delCA5921449SLC6A5c.1401del (p.Trp467Ter)
c.*698del (n.*698del)
c.699del (p.Trp233Ter)
c.525del (p.Trp175Ter)
c.360del (p.Trp120Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20627985G>ACA379917167SLC6A5c.1401G>A (p.Trp467Ter)
c.*698G>A (n.*698G>A)
c.699G>A (p.Trp233Ter)
c.525G>A (p.Trp175Ter)
c.360G>A (p.Trp120Ter)
 dbSNP gnomAD v4
11g.20627985G>CCA379917168SLC6A5c.1401G>C (p.Trp467Cys)
c.*698G>C (n.*698G>C)
c.699G>C (p.Trp233Cys)
c.525G>C (p.Trp175Cys)
c.360G>C (p.Trp120Cys)
11g.20627985G=CA1956619729SLC6A5c.1401G= (p.Trp467=)
c.*698G= (n.*698G=)
c.699G= (p.Trp233=)
c.525G= (p.Trp175=)
c.360G= (p.Trp120=)
11g.20627985G>TCA379917169SLC6A5c.1401G>T (p.Trp467Cys)
c.*698G>T (n.*698G>T)
c.699G>T (p.Trp233Cys)
c.525G>T (p.Trp175Cys)
c.360G>T (p.Trp120Cys)
11g.20627986A>CCA379917170SLC6A5c.1402A>C (p.Lys468Gln)
c.*699A>C (n.*699A>C)
c.700A>C (p.Lys234Gln)
c.526A>C (p.Lys176Gln)
c.361A>C (p.Lys121Gln)
11g.20627986A>GCA379917171SLC6A5c.1402A>G (p.Lys468Glu)
c.*699A>G (n.*699A>G)
c.700A>G (p.Lys234Glu)
c.526A>G (p.Lys176Glu)
c.361A>G (p.Lys121Glu)
11g.20627986A>TCA379917172SLC6A5c.1402A>T (p.Lys468Ter)
c.*699A>T (n.*699A>T)
c.700A>T (p.Lys234Ter)
c.526A>T (p.Lys176Ter)
c.361A>T (p.Lys121Ter)
11g.20627987A=CA1956619730SLC6A5c.1403A= (p.Lys468=)
c.*700A= (n.*700A=)
c.701A= (p.Lys234=)
c.527A= (p.Lys176=)
c.362A= (p.Lys121=)
11g.20627987A>CCA379917173SLC6A5c.1403A>C (p.Lys468Thr)
c.*700A>C (n.*700A>C)
c.701A>C (p.Lys234Thr)
c.527A>C (p.Lys176Thr)
c.362A>C (p.Lys121Thr)
11g.20627987A>GCA218739409SLC6A5c.1403A>G (p.Lys468Arg)
c.*700A>G (n.*700A>G)
c.701A>G (p.Lys234Arg)
c.527A>G (p.Lys176Arg)
c.362A>G (p.Lys121Arg)
 dbSNP
11g.20627987A>TCA379917174SLC6A5c.1403A>T (p.Lys468Ile)
c.*700A>T (n.*700A>T)
c.701A>T (p.Lys234Ile)
c.527A>T (p.Lys176Ile)
c.362A>T (p.Lys121Ile)
11g.20627988A>CCA379917175SLC6A5c.1404A>C (p.Lys468Asn)
c.*701A>C (n.*701A>C)
c.702A>C (p.Lys234Asn)
c.528A>C (p.Lys176Asn)
c.363A>C (p.Lys121Asn)
 gnomAD v4
11g.20627988A>GCA473404210SLC6A5c.1404A>G (p.Lys468=)
c.*701A>G (n.*701A>G)
c.702A>G (p.Lys234=)
c.528A>G (p.Lys176=)
c.363A>G (p.Lys121=)
11g.20627988A>TCA379917176SLC6A5c.1404A>T (p.Lys468Asn)
c.*701A>T (n.*701A>T)
c.702A>T (p.Lys234Asn)
c.528A>T (p.Lys176Asn)
c.363A>T (p.Lys121Asn)
 COSMIC
11g.20627989G>ACA379917179SLC6A5c.1405G>A (p.Asp469Asn)
c.*702G>A (n.*702G>A)
c.703G>A (p.Asp235Asn)
c.529G>A (p.Asp177Asn)
c.364G>A (p.Asp122Asn)
 dbSNP gnomAD v4 COSMIC
11g.20627989G>CCA379917178SLC6A5c.1405G>C (p.Asp469His)
c.*702G>C (n.*702G>C)
c.703G>C (p.Asp235His)
c.529G>C (p.Asp177His)
c.364G>C (p.Asp122His)
11g.20627989G=CA1956619731SLC6A5c.1405G= (p.Asp469=)
c.*702G= (n.*702G=)
c.703G= (p.Asp235=)
c.529G= (p.Asp177=)
c.364G= (p.Asp122=)
11g.20627989G>TCA379917177SLC6A5c.1405G>T (p.Asp469Tyr)
c.*702G>T (n.*702G>T)
c.703G>T (p.Asp235Tyr)
c.529G>T (p.Asp177Tyr)
c.364G>T (p.Asp122Tyr)
11g.20627990A>CCA379917180SLC6A5c.1406A>C (p.Asp469Ala)
c.*703A>C (n.*703A>C)
c.704A>C (p.Asp235Ala)
c.530A>C (p.Asp177Ala)
c.365A>C (p.Asp122Ala)
11g.20627990A>GCA379917181SLC6A5c.1406A>G (p.Asp469Gly)
c.*703A>G (n.*703A>G)
c.704A>G (p.Asp235Gly)
c.530A>G (p.Asp177Gly)
c.365A>G (p.Asp122Gly)
11g.20627990A>TCA379917182SLC6A5c.1406A>T (p.Asp469Val)
c.*703A>T (n.*703A>T)
c.704A>T (p.Asp235Val)
c.530A>T (p.Asp177Val)
c.365A>T (p.Asp122Val)
 gnomAD v4
11g.20627991T>ACA379917183SLC6A5c.1407T>A (p.Asp469Glu)
c.*704T>A (n.*704T>A)
c.705T>A (p.Asp235Glu)
c.531T>A (p.Asp177Glu)
c.366T>A (p.Asp122Glu)
11g.20627991T>CCA473404211SLC6A5c.1407T>C (p.Asp469=)
c.*704T>C (n.*704T>C)
c.705T>C (p.Asp235=)
c.531T>C (p.Asp177=)
c.366T>C (p.Asp122=)
 ClinVar dbSNP
11g.20627991T>GCA379917184SLC6A5c.1407T>G (p.Asp469Glu)
c.*704T>G (n.*704T>G)
c.705T>G (p.Asp235Glu)
c.531T>G (p.Asp177Glu)
c.366T>G (p.Asp122Glu)
11g.20627991T=CA1956619732SLC6A5c.1407T= (p.Asp469=)
c.*704T= (n.*704T=)
c.705T= (p.Asp235=)
c.531T= (p.Asp177=)
c.366T= (p.Asp122=)
11g.20627992G>ACA379917185SLC6A5c.1408G>A (p.Ala470Thr)
c.*705G>A (n.*705G>A)
c.706G>A (p.Ala236Thr)
c.532G>A (p.Ala178Thr)
c.367G>A (p.Ala123Thr)
11g.20627992G>CCA379917186SLC6A5c.1408G>C (p.Ala470Pro)
c.*705G>C (n.*705G>C)
c.706G>C (p.Ala236Pro)
c.532G>C (p.Ala178Pro)
c.367G>C (p.Ala123Pro)
 dbSNP
11g.20627992G=CA1956619733SLC6A5c.1408G= (p.Ala470=)
c.*705G= (n.*705G=)
c.706G= (p.Ala236=)
c.532G= (p.Ala178=)
c.367G= (p.Ala123=)
11g.20627992G>TCA379917187SLC6A5c.1408G>T (p.Ala470Ser)
c.*705G>T (n.*705G>T)
c.706G>T (p.Ala236Ser)
c.532G>T (p.Ala178Ser)
c.367G>T (p.Ala123Ser)
11g.20627993C>ACA379917188SLC6A5c.1409C>A (p.Ala470Asp)
c.*706C>A (n.*706C>A)
c.707C>A (p.Ala236Asp)
c.533C>A (p.Ala178Asp)
c.368C>A (p.Ala123Asp)
11g.20627993C>GCA379917189SLC6A5c.1409C>G (p.Ala470Gly)
c.*706C>G (n.*706C>G)
c.707C>G (p.Ala236Gly)
c.533C>G (p.Ala178Gly)
c.368C>G (p.Ala123Gly)
11g.20627993C>TCA379917190SLC6A5c.1409C>T (p.Ala470Val)
c.*706C>T (n.*706C>T)
c.707C>T (p.Ala236Val)
c.533C>T (p.Ala178Val)
c.368C>T (p.Ala123Val)
11g.20627994T>ACA5921450SLC6A5c.1410T>A (p.Ala470=)
c.*707T>A (n.*707T>A)
c.708T>A (p.Ala236=)
c.534T>A (p.Ala178=)
c.369T>A (p.Ala123=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.20627994T>CCA473404213SLC6A5c.1410T>C (p.Ala470=)
c.*707T>C (n.*707T>C)
c.708T>C (p.Ala236=)
c.534T>C (p.Ala178=)
c.369T>C (p.Ala123=)
 gnomAD v4
11g.20627994T>GCA473404212SLC6A5c.1410T>G (p.Ala470=)
c.*707T>G (n.*707T>G)
c.708T>G (p.Ala236=)
c.534T>G (p.Ala178=)
c.369T>G (p.Ala123=)
11g.20627994T=CA1956619734SLC6A5c.1410T= (p.Ala470=)
c.*707T= (n.*707T=)
c.708T= (p.Ala236=)
c.534T= (p.Ala178=)
c.369T= (p.Ala123=)
11g.20627995G>ACA379917193SLC6A5c.1411G>A (p.Ala471Thr)
c.*708G>A (n.*708G>A)
c.709G>A (p.Ala237Thr)
c.535G>A (p.Ala179Thr)
c.370G>A (p.Ala124Thr)
 dbSNP gnomAD v4
11g.20627995G>CCA379917192SLC6A5c.1411G>C (p.Ala471Pro)
c.*708G>C (n.*708G>C)
c.709G>C (p.Ala237Pro)
c.535G>C (p.Ala179Pro)
c.370G>C (p.Ala124Pro)
11g.20627995G=CA1956619735SLC6A5c.1411G= (p.Ala471=)
c.*708G= (n.*708G=)
c.709G= (p.Ala237=)
c.535G= (p.Ala179=)
c.370G= (p.Ala124=)
11g.20627995G>TCA379917191SLC6A5c.1411G>T (p.Ala471Ser)
c.*708G>T (n.*708G>T)
c.709G>T (p.Ala237Ser)
c.535G>T (p.Ala179Ser)
c.370G>T (p.Ala124Ser)
11g.20627996C>ACA379917194SLC6A5c.1412C>A (p.Ala471Asp)
c.*709C>A (n.*709C>A)
c.710C>A (p.Ala237Asp)
c.536C>A (p.Ala179Asp)
c.371C>A (p.Ala124Asp)
11g.20627996C>GCA379917196SLC6A5c.1412C>G (p.Ala471Gly)
c.*709C>G (n.*709C>G)
c.710C>G (p.Ala237Gly)
c.536C>G (p.Ala179Gly)
c.371C>G (p.Ala124Gly)
11g.20627996C>TCA379917195SLC6A5c.1412C>T (p.Ala471Val)
c.*709C>T (n.*709C>T)
c.710C>T (p.Ala237Val)
c.536C>T (p.Ala179Val)
c.371C>T (p.Ala124Val)
11g.20627997C>ACA473404214SLC6A5c.1413C>A (p.Ala471=)
c.*710C>A (n.*710C>A)
c.711C>A (p.Ala237=)
c.537C>A (p.Ala179=)
c.372C>A (p.Ala124=)
11g.20627997C=CA1956619736SLC6A5c.1413C= (p.Ala471=)
c.*710C= (n.*710C=)
c.711C= (p.Ala237=)
c.537C= (p.Ala179=)
c.372C= (p.Ala124=)
11g.20627997C>GCA5921452SLC6A5c.1413C>G (p.Ala471=)
c.*710C>G (n.*710C>G)
c.711C>G (p.Ala237=)
c.537C>G (p.Ala179=)
c.372C>G (p.Ala124=)
 dbSNP ExAC gnomAD v2
11g.20627997C>TCA5921451SLC6A5c.1413C>T (p.Ala471=)
c.*710C>T (n.*710C>T)
c.711C>T (p.Ala237=)
c.537C>T (p.Ala179=)
c.372C>T (p.Ala124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20627998A>CCA379917197SLC6A5c.1414A>C (p.Thr472Pro)
c.*711A>C (n.*711A>C)
c.712A>C (p.Thr238Pro)
c.538A>C (p.Thr180Pro)
c.373A>C (p.Thr125Pro)
11g.20627998A>GCA379917198SLC6A5c.1414A>G (p.Thr472Ala)
c.*711A>G (n.*711A>G)
c.712A>G (p.Thr238Ala)
c.538A>G (p.Thr180Ala)
c.373A>G (p.Thr125Ala)
11g.20627998A>TCA379917199SLC6A5c.1414A>T (p.Thr472Ser)
c.*711A>T (n.*711A>T)
c.712A>T (p.Thr238Ser)
c.538A>T (p.Thr180Ser)
c.373A>T (p.Thr125Ser)
11g.20627999C>ACA379917200SLC6A5c.1415C>A (p.Thr472Asn)
c.*712C>A (n.*712C>A)
c.713C>A (p.Thr238Asn)
c.539C>A (p.Thr180Asn)
c.374C>A (p.Thr125Asn)
11g.20627999C=CA1956619737SLC6A5c.1415C= (p.Thr472=)
c.*712C= (n.*712C=)
c.713C= (p.Thr238=)
c.539C= (p.Thr180=)
c.374C= (p.Thr125=)
11g.20627999C>GCA379917201SLC6A5c.1415C>G (p.Thr472Ser)
c.*712C>G (n.*712C>G)
c.713C>G (p.Thr238Ser)
c.539C>G (p.Thr180Ser)
c.374C>G (p.Thr125Ser)
11g.20627999C>TCA379917202SLC6A5c.1415C>T (p.Thr472Ile)
c.*712C>T (n.*712C>T)
c.713C>T (p.Thr238Ile)
c.539C>T (p.Thr180Ile)
c.374C>T (p.Thr125Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.20628000T>ACA473404215SLC6A5c.1416T>A (p.Thr472=)
c.*713T>A (n.*713T>A)
c.714T>A (p.Thr238=)
c.540T>A (p.Thr180=)
c.375T>A (p.Thr125=)
11g.20628000T>CCA473404216SLC6A5c.1416T>C (p.Thr472=)
c.*713T>C (n.*713T>C)
c.714T>C (p.Thr238=)
c.540T>C (p.Thr180=)
c.375T>C (p.Thr125=)
11g.20628000T>GCA473404217SLC6A5c.1416T>G (p.Thr472=)
c.*713T>G (n.*713T>G)
c.714T>G (p.Thr238=)
c.540T>G (p.Thr180=)
c.375T>G (p.Thr125=)
11g.20628001C>ACA379917203SLC6A5c.1417C>A (p.Gln473Lys)
c.*714C>A (n.*714C>A)
c.715C>A (p.Gln239Lys)
c.541C>A (p.Gln181Lys)
c.376C>A (p.Gln126Lys)
 COSMIC
11g.20628001C>GCA379917204SLC6A5c.1417C>G (p.Gln473Glu)
c.*714C>G (n.*714C>G)
c.715C>G (p.Gln239Glu)
c.541C>G (p.Gln181Glu)
c.376C>G (p.Gln126Glu)
 COSMIC
11g.20628001C>TCA379917205SLC6A5c.1417C>T (p.Gln473Ter)
c.*714C>T (n.*714C>T)
c.715C>T (p.Gln239Ter)
c.541C>T (p.Gln181Ter)
c.376C>T (p.Gln126Ter)
 COSMIC
11g.20628002A>CCA379917206SLC6A5c.1418A>C (p.Gln473Pro)
c.*715A>C (n.*715A>C)
c.716A>C (p.Gln239Pro)
c.542A>C (p.Gln181Pro)
c.377A>C (p.Gln126Pro)
11g.20628002A>GCA379917207SLC6A5c.1418A>G (p.Gln473Arg)
c.*715A>G (n.*715A>G)
c.716A>G (p.Gln239Arg)
c.542A>G (p.Gln181Arg)
c.377A>G (p.Gln126Arg)
11g.20628002A>TCA379917208SLC6A5c.1418A>T (p.Gln473Leu)
c.*715A>T (n.*715A>T)
c.716A>T (p.Gln239Leu)
c.542A>T (p.Gln181Leu)
c.377A>T (p.Gln126Leu)
11g.20628003G>ACA218739426SLC6A5c.1419G>A (p.Gln473=)
c.*716G>A (n.*716G>A)
c.717G>A (p.Gln239=)
c.543G>A (p.Gln181=)
c.378G>A (p.Gln126=)
 dbSNP
11g.20628003G>CCA379917209SLC6A5c.1419G>C (p.Gln473His)
c.*716G>C (n.*716G>C)
c.717G>C (p.Gln239His)
c.543G>C (p.Gln181His)
c.378G>C (p.Gln126His)
11g.20628003G=CA1956619738SLC6A5c.1419G= (p.Gln473=)
c.*716G= (n.*716G=)
c.717G= (p.Gln239=)
c.543G= (p.Gln181=)
c.378G= (p.Gln126=)
11g.20628003G>TCA379917210SLC6A5c.1419G>T (p.Gln473His)
c.*716G>T (n.*716G>T)
c.717G>T (p.Gln239His)
c.543G>T (p.Gln181His)
c.378G>T (p.Gln126His)
 gnomAD v4
11g.20628004A>CCA379917211SLC6A5c.1420A>C (p.Ile474Leu)
c.*717A>C (n.*717A>C)
c.718A>C (p.Ile240Leu)
c.544A>C (p.Ile182Leu)
c.379A>C (p.Ile127Leu)
11g.20628004A>GCA379917212SLC6A5c.1420A>G (p.Ile474Val)
c.*717A>G (n.*717A>G)
c.718A>G (p.Ile240Val)
c.544A>G (p.Ile182Val)
c.379A>G (p.Ile127Val)
 gnomAD v4
11g.20628004A>TCA379917213SLC6A5c.1420A>T (p.Ile474Phe)
c.*717A>T (n.*717A>T)
c.718A>T (p.Ile240Phe)
c.544A>T (p.Ile182Phe)
c.379A>T (p.Ile127Phe)
11g.20628005T>ACA379917214SLC6A5c.1421T>A (p.Ile474Asn)
c.*718T>A (n.*718T>A)
c.719T>A (p.Ile240Asn)
c.545T>A (p.Ile182Asn)
c.380T>A (p.Ile127Asn)
11g.20628005T>CCA379917215SLC6A5c.1421T>C (p.Ile474Thr)
c.*718T>C (n.*718T>C)
c.719T>C (p.Ile240Thr)
c.545T>C (p.Ile182Thr)
c.380T>C (p.Ile127Thr)
11g.20628005T>GCA379917216SLC6A5c.1421T>G (p.Ile474Ser)
c.*718T>G (n.*718T>G)
c.719T>G (p.Ile240Ser)
c.545T>G (p.Ile182Ser)
c.380T>G (p.Ile127Ser)
11g.20628006T>ACA473404218SLC6A5c.1422T>A (p.Ile474=)
c.*719T>A (n.*719T>A)
c.720T>A (p.Ile240=)
c.546T>A (p.Ile182=)
c.381T>A (p.Ile127=)
11g.20628006T>CCA473404219SLC6A5c.1422T>C (p.Ile474=)
c.*719T>C (n.*719T>C)
c.720T>C (p.Ile240=)
c.546T>C (p.Ile182=)
c.381T>C (p.Ile127=)
11g.20628006T>GCA379917217SLC6A5c.1422T>G (p.Ile474Met)
c.*719T>G (n.*719T>G)
c.720T>G (p.Ile240Met)
c.546T>G (p.Ile182Met)
c.381T>G (p.Ile127Met)
11g.20628007T>ACA379917218SLC6A5c.1423T>A (p.Phe475Ile)
c.*720T>A (n.*720T>A)
c.721T>A (p.Phe241Ile)
c.547T>A (p.Phe183Ile)
c.382T>A (p.Phe128Ile)
 COSMIC
11g.20628007T>CCA379917219SLC6A5c.1423T>C (p.Phe475Leu)
c.*720T>C (n.*720T>C)
c.721T>C (p.Phe241Leu)
c.547T>C (p.Phe183Leu)
c.382T>C (p.Phe128Leu)
11g.20628007T>GCA379917220SLC6A5c.1423T>G (p.Phe475Val)
c.*720T>G (n.*720T>G)
c.721T>G (p.Phe241Val)
c.547T>G (p.Phe183Val)
c.382T>G (p.Phe128Val)
11g.20628008T>ACA379917223SLC6A5c.1424T>A (p.Phe475Tyr)
c.*721T>A (n.*721T>A)
c.722T>A (p.Phe241Tyr)
c.548T>A (p.Phe183Tyr)
c.383T>A (p.Phe128Tyr)
11g.20628008T>CCA379917222SLC6A5c.1424T>C (p.Phe475Ser)
c.*721T>C (n.*721T>C)
c.722T>C (p.Phe241Ser)
c.548T>C (p.Phe183Ser)
c.383T>C (p.Phe128Ser)
11g.20628008T>GCA379917221SLC6A5c.1424T>G (p.Phe475Cys)
c.*721T>G (n.*721T>G)
c.722T>G (p.Phe241Cys)
c.548T>G (p.Phe183Cys)
c.383T>G (p.Phe128Cys)
11g.20628009C>ACA379917224SLC6A5c.1425C>A (p.Phe475Leu)
c.*722C>A (n.*722C>A)
c.723C>A (p.Phe241Leu)
c.549C>A (p.Phe183Leu)
c.384C>A (p.Phe128Leu)
 dbSNP
11g.20628009C=CA1956619739SLC6A5c.1425C= (p.Phe475=)
c.*722C= (n.*722C=)
c.723C= (p.Phe241=)
c.549C= (p.Phe183=)
c.384C= (p.Phe128=)
11g.20628009C>GCA379917225SLC6A5c.1425C>G (p.Phe475Leu)
c.*722C>G (n.*722C>G)
c.723C>G (p.Phe241Leu)
c.549C>G (p.Phe183Leu)
c.384C>G (p.Phe128Leu)
11g.20628009C>TCA473404220SLC6A5c.1425C>T (p.Phe475=)
c.*722C>T (n.*722C>T)
c.723C>T (p.Phe241=)
c.549C>T (p.Phe183=)
c.384C>T (p.Phe128=)
11g.20628010T>ACA379917226SLC6A5c.1426T>A (p.Phe476Ile)
c.*723T>A (n.*723T>A)
c.724T>A (p.Phe242Ile)
c.550T>A (p.Phe184Ile)
c.385T>A (p.Phe129Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.20628010T>CCA379917227SLC6A5c.1426T>C (p.Phe476Leu)
c.*723T>C (n.*723T>C)
c.724T>C (p.Phe242Leu)
c.550T>C (p.Phe184Leu)
c.385T>C (p.Phe129Leu)
11g.20628010T>GCA379917228SLC6A5c.1426T>G (p.Phe476Val)
c.*723T>G (n.*723T>G)
c.724T>G (p.Phe242Val)
c.550T>G (p.Phe184Val)
c.385T>G (p.Phe129Val)
 ClinVar
11g.20628010T=CA1956619740SLC6A5c.1426T= (p.Phe476=)
c.*723T= (n.*723T=)
c.724T= (p.Phe242=)
c.550T= (p.Phe184=)
c.385T= (p.Phe129=)
11g.20628011T>ACA379917229SLC6A5c.1427T>A (p.Phe476Tyr)
c.*724T>A (n.*724T>A)
c.725T>A (p.Phe242Tyr)
c.551T>A (p.Phe184Tyr)
c.386T>A (p.Phe129Tyr)
11g.20628011T>CCA379917230SLC6A5c.1427T>C (p.Phe476Ser)
c.*724T>C (n.*724T>C)
c.725T>C (p.Phe242Ser)
c.551T>C (p.Phe184Ser)
c.386T>C (p.Phe129Ser)
 gnomAD v4
11g.20628011T>GCA379917231SLC6A5c.1427T>G (p.Phe476Cys)
c.*724T>G (n.*724T>G)
c.725T>G (p.Phe242Cys)
c.551T>G (p.Phe184Cys)
c.386T>G (p.Phe129Cys)
11g.20628012C>ACA379917232SLC6A5c.1428C>A (p.Phe476Leu)
c.*725C>A (n.*725C>A)
c.726C>A (p.Phe242Leu)
c.552C>A (p.Phe184Leu)
c.387C>A (p.Phe129Leu)
11g.20628012C>GCA379917233SLC6A5c.1428C>G (p.Phe476Leu)
c.*725C>G (n.*725C>G)
c.726C>G (p.Phe242Leu)
c.552C>G (p.Phe184Leu)
c.387C>G (p.Phe129Leu)
11g.20628012C>TCA473404221SLC6A5c.1428C>T (p.Phe476=)
c.*725C>T (n.*725C>T)
c.726C>T (p.Phe242=)
c.552C>T (p.Phe184=)
c.387C>T (p.Phe129=)
11g.20628012_20628013delinsCTCA1956619741SLC6A5c.1428_1429delinsCT (p.Phe476=)
c.*725_*726delinsCT (n.*725_*726delinsCT)
c.726_727delinsCT (p.Phe242=)
c.552_553delinsCT (p.Phe184=)
c.387_388delinsCT (p.Phe129=)
11g.20628013delCA597487313SLC6A5c.1429del (p.Ser477LeufsTer9)
c.*726del (n.*726del)
c.727del (p.Ser243LeufsTer9)
c.553del (p.Ser185LeufsTer9)
c.388del (p.Ser130LeufsTer9)
 dbSNP gnomAD v2 gnomAD v4
11g.20628013T>ACA379917234SLC6A5c.1429T>A (p.Ser477Thr)
c.*726T>A (n.*726T>A)
c.727T>A (p.Ser243Thr)
c.553T>A (p.Ser185Thr)
c.388T>A (p.Ser130Thr)
11g.20628013T>CCA379917235SLC6A5c.1429T>C (p.Ser477Pro)
c.*726T>C (n.*726T>C)
c.727T>C (p.Ser243Pro)
c.553T>C (p.Ser185Pro)
c.388T>C (p.Ser130Pro)
 ClinVar dbSNP
11g.20628013T>GCA379917236SLC6A5c.1429T>G (p.Ser477Ala)
c.*726T>G (n.*726T>G)
c.727T>G (p.Ser243Ala)
c.553T>G (p.Ser185Ala)
c.388T>G (p.Ser130Ala)
11g.20628013T=CA1956619743SLC6A5c.1429T= (p.Ser477=)
c.*726T= (n.*726T=)
c.727T= (p.Ser243=)
c.553T= (p.Ser185=)
c.388T= (p.Ser130=)
11g.20628013_20628014delinsTCCA1956619742SLC6A5c.1429_1430delinsTC (p.Ser477=)
c.*726_*727delinsTC (n.*726_*727delinsTC)
c.727_728delinsTC (p.Ser243=)
c.553_554delinsTC (p.Ser185=)
c.388_389delinsTC (p.Ser130=)
11g.20628014delCA5921453SLC6A5c.1430del (p.Ser477PhefsTer9)
c.*727del (n.*727del)
c.728del (p.Ser243PhefsTer9)
c.554del (p.Ser185PhefsTer9)
c.389del (p.Ser130PhefsTer9)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.20628014C>ACA379917237SLC6A5c.1430C>A (p.Ser477Tyr)
c.*727C>A (n.*727C>A)
c.728C>A (p.Ser243Tyr)
c.554C>A (p.Ser185Tyr)
c.389C>A (p.Ser130Tyr)
11g.20628014C>GCA379917239SLC6A5c.1430C>G (p.Ser477Cys)
c.*727C>G (n.*727C>G)
c.728C>G (p.Ser243Cys)
c.554C>G (p.Ser185Cys)
c.389C>G (p.Ser130Cys)
11g.20628014C>TCA379917238SLC6A5c.1430C>T (p.Ser477Phe)
c.*727C>T (n.*727C>T)
c.728C>T (p.Ser243Phe)
c.554C>T (p.Ser185Phe)
c.389C>T (p.Ser130Phe)
 gnomAD v3 gnomAD v4
11g.20628015T>ACA473404222SLC6A5c.1431T>A (p.Ser477=)
c.*728T>A (n.*728T>A)
c.729T>A (p.Ser243=)
c.555T>A (p.Ser185=)
c.390T>A (p.Ser130=)
11g.20628015T>CCA473404223SLC6A5c.1431T>C (p.Ser477=)
c.*728T>C (n.*728T>C)
c.729T>C (p.Ser243=)
c.555T>C (p.Ser185=)
c.390T>C (p.Ser130=)
 dbSNP gnomAD v2 gnomAD v4
11g.20628015T>GCA473404224SLC6A5c.1431T>G (p.Ser477=)
c.*728T>G (n.*728T>G)
c.729T>G (p.Ser243=)
c.555T>G (p.Ser185=)
c.390T>G (p.Ser130=)
11g.20628015T=CA1956619744SLC6A5c.1431T= (p.Ser477=)
c.*728T= (n.*728T=)
c.729T= (p.Ser243=)
c.555T= (p.Ser185=)
c.390T= (p.Ser130=)
11g.20628016T>ACA379917240SLC6A5c.1432T>A (p.Leu478Ile)
c.*729T>A (n.*729T>A)
c.730T>A (p.Leu244Ile)
c.556T>A (p.Leu186Ile)
c.391T>A (p.Leu131Ile)
11g.20628016T>CCA473404225SLC6A5c.1432T>C (p.Leu478=)
c.*729T>C (n.*729T>C)
c.730T>C (p.Leu244=)
c.556T>C (p.Leu186=)
c.391T>C (p.Leu131=)
11g.20628016T>GCA379917241SLC6A5c.1432T>G (p.Leu478Val)
c.*729T>G (n.*729T>G)
c.730T>G (p.Leu244Val)
c.556T>G (p.Leu186Val)
c.391T>G (p.Leu131Val)
11g.20628017T>ACA379917242SLC6A5c.1433T>A (p.Leu478Ter)
c.*730T>A (n.*730T>A)
c.731T>A (p.Leu244Ter)
c.557T>A (p.Leu186Ter)
c.392T>A (p.Leu131Ter)
11g.20628017T>CCA379917243SLC6A5c.1433T>C (p.Leu478Ser)
c.*730T>C (n.*730T>C)
c.731T>C (p.Leu244Ser)
c.557T>C (p.Leu186Ser)
c.392T>C (p.Leu131Ser)
 gnomAD v4 COSMIC
11g.20628017T>GCA379917244SLC6A5c.1433T>G (p.Leu478Ter)
c.*730T>G (n.*730T>G)
c.731T>G (p.Leu244Ter)
c.557T>G (p.Leu186Ter)
c.392T>G (p.Leu131Ter)
11g.20628018A>CCA379917245SLC6A5c.1434A>C (p.Leu478Phe)
c.*731A>C (n.*731A>C)
c.732A>C (p.Leu244Phe)
c.558A>C (p.Leu186Phe)
c.393A>C (p.Leu131Phe)
11g.20628018A>GCA473404226SLC6A5c.1434A>G (p.Leu478=)
c.*731A>G (n.*731A>G)
c.732A>G (p.Leu244=)
c.558A>G (p.Leu186=)
c.393A>G (p.Leu131=)
 gnomAD v4
11g.20628018A>TCA379917246SLC6A5c.1434A>T (p.Leu478Phe)
c.*731A>T (n.*731A>T)
c.732A>T (p.Leu244Phe)
c.558A>T (p.Leu186Phe)
c.393A>T (p.Leu131Phe)
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)

Number of alleles fetched