Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.20627991T>A | CA379917183 | SLC6A5 | c.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) | |
11 | g.20627991T>C | CA473404211 | SLC6A5 | c.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 |
11 | g.20627991T>G | CA379917184 | SLC6A5 | c.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) | |
11 | g.20627991T= | CA1956619732 | SLC6A5 | c.1407T= (p.Asp469=) c.*704T= (n.*704T=) c.705T= (p.Asp235=) c.531T= (p.Asp177=) c.366T= (p.Asp122=) | |
11 | g.20627992G>A | CA379917185 | SLC6A5 | c.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) | |
11 | g.20627992G>C | CA379917186 | SLC6A5 | c.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 |
11 | g.20627992G= | CA1956619733 | SLC6A5 | c.1408G= (p.Ala470=) c.*705G= (n.*705G=) c.706G= (p.Ala236=) c.532G= (p.Ala178=) c.367G= (p.Ala123=) | |
11 | g.20627992G>T | CA379917187 | SLC6A5 | c.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) | |
11 | g.20627993C>A | CA379917188 | SLC6A5 | c.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) | |
11 | g.20627993C>G | CA379917189 | SLC6A5 | c.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) | |
11 | g.20627993C>T | CA379917190 | SLC6A5 | c.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) | |
11 | g.20627994T>A | CA5921450 | SLC6A5 | c.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 |
11 | g.20627994T>C | CA473404213 | SLC6A5 | c.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 |
11 | g.20627994T>G | CA473404212 | SLC6A5 | c.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=) | |
11 | g.20627994T= | CA1956619734 | SLC6A5 | c.1410T= (p.Ala470=) c.*707T= (n.*707T=) c.708T= (p.Ala236=) c.534T= (p.Ala178=) c.369T= (p.Ala123=) | |
11 | g.20627995G>A | CA379917193 | SLC6A5 | c.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 |
11 | g.20627995G>C | CA379917192 | SLC6A5 | c.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) | |
11 | g.20627995G= | CA1956619735 | SLC6A5 | c.1411G= (p.Ala471=) c.*708G= (n.*708G=) c.709G= (p.Ala237=) c.535G= (p.Ala179=) c.370G= (p.Ala124=) | |
11 | g.20627995G>T | CA379917191 | SLC6A5 | c.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) | |
11 | g.20627996C>A | CA379917194 | SLC6A5 | c.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) | |
11 | g.20627996C>G | CA379917196 | SLC6A5 | c.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) | |
11 | g.20627996C>T | CA379917195 | SLC6A5 | c.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) | |
11 | g.20627997C>A | CA473404214 | SLC6A5 | c.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=) | |
11 | g.20627997C= | CA1956619736 | SLC6A5 | c.1413C= (p.Ala471=) c.*710C= (n.*710C=) c.711C= (p.Ala237=) c.537C= (p.Ala179=) c.372C= (p.Ala124=) | |
11 | g.20627997C>G | CA5921452 | SLC6A5 | c.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 |
11 | g.20627997C>T | CA5921451 | SLC6A5 | c.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 |
11 | g.20627998A>C | CA379917197 | SLC6A5 | c.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) | |
11 | g.20627998A>G | CA379917198 | SLC6A5 | c.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) | |
11 | g.20627998A>T | CA379917199 | SLC6A5 | c.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) | |
11 | g.20627999C>A | CA379917200 | SLC6A5 | c.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) | |
11 | g.20627999C= | CA1956619737 | SLC6A5 | c.1415C= (p.Thr472=) c.*712C= (n.*712C=) c.713C= (p.Thr238=) c.539C= (p.Thr180=) c.374C= (p.Thr125=) | |
11 | g.20627999C>G | CA379917201 | SLC6A5 | c.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) | |
11 | g.20627999C>T | CA379917202 | SLC6A5 | c.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 |
11 | g.20628000T>A | CA473404215 | SLC6A5 | c.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=) | |
11 | g.20628000T>C | CA473404216 | SLC6A5 | c.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=) | |
11 | g.20628000T>G | CA473404217 | SLC6A5 | c.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=) | |
11 | g.20628001C>A | CA379917203 | SLC6A5 | c.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 |
11 | g.20628001C>G | CA379917204 | SLC6A5 | c.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 |
11 | g.20628001C>T | CA379917205 | SLC6A5 | c.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 |
11 | g.20628002A>C | CA379917206 | SLC6A5 | c.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) | |
11 | g.20628002A>G | CA379917207 | SLC6A5 | c.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) | |
11 | g.20628002A>T | CA379917208 | SLC6A5 | c.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) | |
11 | g.20628003G>A | CA218739426 | SLC6A5 | c.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 |
11 | g.20628003G>C | CA379917209 | SLC6A5 | c.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) | |
11 | g.20628003G= | CA1956619738 | SLC6A5 | c.1419G= (p.Gln473=) c.*716G= (n.*716G=) c.717G= (p.Gln239=) c.543G= (p.Gln181=) c.378G= (p.Gln126=) | |
11 | g.20628003G>T | CA379917210 | SLC6A5 | c.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 |
11 | g.20628004A>C | CA379917211 | SLC6A5 | c.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) | |
11 | g.20628004A>G | CA379917212 | SLC6A5 | c.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 |
11 | g.20628004A>T | CA379917213 | SLC6A5 | c.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) | |
11 | g.20628005T>A | CA379917214 | SLC6A5 | c.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) | |
11 | g.20628005T>C | CA379917215 | SLC6A5 | c.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) | |
11 | g.20628005T>G | CA379917216 | SLC6A5 | c.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) | |
11 | g.20628006T>A | CA473404218 | SLC6A5 | c.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=) | |
11 | g.20628006T>C | CA473404219 | SLC6A5 | c.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=) | |
11 | g.20628006T>G | CA379917217 | SLC6A5 | c.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) | |
11 | g.20628007T>A | CA379917218 | SLC6A5 | c.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 |
11 | g.20628007T>C | CA379917219 | SLC6A5 | c.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) | |
11 | g.20628007T>G | CA379917220 | SLC6A5 | c.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) | |
11 | g.20628008T>A | CA379917223 | SLC6A5 | c.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) | |
11 | g.20628008T>C | CA379917222 | SLC6A5 | c.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) | |
11 | g.20628008T>G | CA379917221 | SLC6A5 | c.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) | |
11 | g.20628009C>A | CA379917224 | SLC6A5 | c.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 |
11 | g.20628009C= | CA1956619739 | SLC6A5 | c.1425C= (p.Phe475=) c.*722C= (n.*722C=) c.723C= (p.Phe241=) c.549C= (p.Phe183=) c.384C= (p.Phe128=) | |
11 | g.20628009C>G | CA379917225 | SLC6A5 | c.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) | |
11 | g.20628009C>T | CA473404220 | SLC6A5 | c.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=) | |
11 | g.20628010T>A | CA379917226 | SLC6A5 | c.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 |
11 | g.20628010T>C | CA379917227 | SLC6A5 | c.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) | |
11 | g.20628010T>G | CA379917228 | SLC6A5 | c.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 |
11 | g.20628010T= | CA1956619740 | SLC6A5 | c.1426T= (p.Phe476=) c.*723T= (n.*723T=) c.724T= (p.Phe242=) c.550T= (p.Phe184=) c.385T= (p.Phe129=) | |
11 | g.20628011T>A | CA379917229 | SLC6A5 | c.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) | |
11 | g.20628011T>C | CA379917230 | SLC6A5 | c.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 |
11 | g.20628011T>G | CA379917231 | SLC6A5 | c.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) | |
11 | g.20628012C>A | CA379917232 | SLC6A5 | c.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) | |
11 | g.20628012C>G | CA379917233 | SLC6A5 | c.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) | |
11 | g.20628012C>T | CA473404221 | SLC6A5 | c.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=) | |
11 | g.20628012_20628013delinsCT | CA1956619741 | SLC6A5 | c.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=) | |
11 | g.20628013del | CA597487313 | SLC6A5 | c.1429del (p.Ser477LeufsTer9) c.*726del (n.*726del) c.727del (p.Ser243LeufsTer9) c.553del (p.Ser185LeufsTer9) c.388del (p.Ser130LeufsTer9) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.20628013T>A | CA379917234 | SLC6A5 | c.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) | |
11 | g.20628013T>C | CA379917235 | SLC6A5 | c.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 |
11 | g.20628013T>G | CA379917236 | SLC6A5 | c.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) | |
11 | g.20628013T= | CA1956619743 | SLC6A5 | c.1429T= (p.Ser477=) c.*726T= (n.*726T=) c.727T= (p.Ser243=) c.553T= (p.Ser185=) c.388T= (p.Ser130=) | |
11 | g.20628013_20628014delinsTC | CA1956619742 | SLC6A5 | c.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=) | |
11 | g.20628014del | CA5921453 | SLC6A5 | c.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 |
11 | g.20628014C>A | CA379917237 | SLC6A5 | c.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) | |
11 | g.20628014C>G | CA379917239 | SLC6A5 | c.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) | |
11 | g.20628014C>T | CA379917238 | SLC6A5 | c.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 |
11 | g.20628015T>A | CA473404222 | SLC6A5 | c.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=) | |
11 | g.20628015T>C | CA473404223 | SLC6A5 | c.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 |
11 | g.20628015T>G | CA473404224 | SLC6A5 | c.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=) | |
11 | g.20628015T= | CA1956619744 | SLC6A5 | c.1431T= (p.Ser477=) c.*728T= (n.*728T=) c.729T= (p.Ser243=) c.555T= (p.Ser185=) c.390T= (p.Ser130=) | |
11 | g.20628016T>A | CA379917240 | SLC6A5 | c.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) | |
11 | g.20628016T>C | CA473404225 | SLC6A5 | c.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=) | |
11 | g.20628016T>G | CA379917241 | SLC6A5 | c.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) | |
11 | g.20628017T>A | CA379917242 | SLC6A5 | c.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) | |
11 | g.20628017T>C | CA379917243 | SLC6A5 | c.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 |
11 | g.20628017T>G | CA379917244 | SLC6A5 | c.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) | |
11 | g.20628018A>C | CA379917245 | SLC6A5 | c.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) | |
11 | g.20628018A>G | CA473404226 | SLC6A5 | c.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 |
11 | g.20628018A>T | CA379917246 | SLC6A5 | c.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) | |
11 | g.20628020_20636733del | CA2580082890 | SLC6A5 | c.1436_1737+314del c.*733_*1034+314del c.734_1035+314del c.560_861+314del c.395_696+314del | ClinVar |
11 | g.20628019T>A | CA379917247 | SLC6A5 | c.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) | |
11 | g.20628019T>C | CA379917248 | SLC6A5 | c.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) | |
11 | g.20628019T>G | CA379917249 | SLC6A5 | c.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) | |
11 | g.20628020C>A | CA379917251 | SLC6A5 | c.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) | |
11 | g.20628020C>G | CA379917252 | SLC6A5 | c.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 |
11 | g.20628020C>T | CA379917250 | SLC6A5 | c.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) | |
11 | g.20628021T>A | CA473404227 | SLC6A5 | c.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=) | |
11 | g.20628021T>C | CA473404228 | SLC6A5 | c.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=) | |
11 | g.20628021T>G | CA473404229 | SLC6A5 | c.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=) | |
11 | g.20628022G>A | CA379917253 | SLC6A5 | c.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) | |
11 | g.20628022G>C | CA379917254 | SLC6A5 | c.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) | |
11 | g.20628022G>T | CA379917255 | SLC6A5 | c.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) | |
11 | g.20628023C>A | CA379917256 | SLC6A5 | c.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) | |
11 | g.20628023C= | CA1956619745 | SLC6A5 | c.1439C= (p.Ala480=) c.*736C= (n.*736C=) c.737C= (p.Ala246=) c.563C= (p.Ala188=) c.398C= (p.Ala133=) | |
11 | g.20628023C>G | CA379917257 | SLC6A5 | c.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) | |
11 | g.20628023C>T | CA5921454 | SLC6A5 | c.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 |
11 | g.20628024T>A | CA473404230 | SLC6A5 | c.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=) | |
11 | g.20628024T>C | CA473404231 | SLC6A5 | c.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 |
11 | g.20628024T>G | CA473404232 | SLC6A5 | c.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=) | |
11 | g.20628024T= | CA1956619746 | SLC6A5 | c.1440T= (p.Ala480=) c.*737T= (n.*737T=) c.738T= (p.Ala246=) c.564T= (p.Ala188=) c.399T= (p.Ala133=) | |
11 | g.20628025G>A | CA379917260 | SLC6A5 | c.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 |
11 | g.20628025G>C | CA379917258 | SLC6A5 | c.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) | |
11 | g.20628025G>T | CA379917259 | SLC6A5 | c.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) | |
11 | g.20628026C>A | CA379917261 | SLC6A5 | c.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) | |
11 | g.20628026C= | CA1956619747 | SLC6A5 | c.1442C= (p.Ala481=) c.*739C= (n.*739C=) c.740C= (p.Ala247=) c.566C= (p.Ala189=) c.401C= (p.Ala134=) | |
11 | g.20628026C>G | CA379917262 | SLC6A5 | c.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) | |
11 | g.20628026C>T | CA379917263 | SLC6A5 | c.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 |
11 | g.20628027A= | CA1956619748 | SLC6A5 | c.1443A= (p.Ala481=) c.*740A= (n.*740A=) c.741A= (p.Ala247=) c.567A= (p.Ala189=) c.402A= (p.Ala134=) | |
11 | g.20628027A>C | CA473404233 | SLC6A5 | c.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=) | |
11 | g.20628027A>G | CA473404234 | SLC6A5 | c.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 |
11 | g.20628027A>T | CA473404235 | SLC6A5 | c.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 |
11 | g.20628028T>A | CA379917264 | SLC6A5 | c.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) | |
11 | g.20628028T>C | CA343002 | SLC6A5 | c.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 |
11 | g.20628028T>G | CA379917265 | SLC6A5 | c.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) | |
11 | g.20628028T= | CA1956619749 | SLC6A5 | c.1444T= (p.Trp482=) c.*741T= (n.*741T=) c.742T= (p.Trp248=) c.568T= (p.Trp190=) c.403T= (p.Trp135=) | |
11 | g.20628029G>A | CA379917266 | SLC6A5 | c.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) | |
11 | g.20628029G>C | CA379917268 | SLC6A5 | c.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) | |
11 | g.20628029G>T | CA379917267 | SLC6A5 | c.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) | |
11 | g.20628032del | CA2612827775 | SLC6A5 | c.1448del (p.Gly483GlufsTer3) c.*745del (n.*745del) c.746del (p.Gly249GlufsTer3) c.572del (p.Gly191GlufsTer3) c.407del (p.Gly136GlufsTer3) | gnomAD v4 |
11 | g.20628030G>A | CA379917269 | SLC6A5 | c.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 |
11 | g.20628030G>C | CA379917270 | SLC6A5 | c.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 |
11 | g.20628030G= | CA1956619750 | SLC6A5 | c.1446G= (p.Trp482=) c.*743G= (n.*743G=) c.744G= (p.Trp248=) c.570G= (p.Trp190=) c.405G= (p.Trp135=) | |
11 | g.20628030G>T | CA379917271 | SLC6A5 | c.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) | |
11 | g.20628031G>A | CA379917272 | SLC6A5 | c.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 |
11 | g.20628031G>C | CA5921455 | SLC6A5 | c.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 |
11 | g.20628031G= | CA1956619751 | SLC6A5 | c.1447G= (p.Gly483=) c.*744G= (n.*744G=) c.745G= (p.Gly249=) c.571G= (p.Gly191=) c.406G= (p.Gly136=) | |
11 | g.20628031G>T | CA379917273 | SLC6A5 | c.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) | |
11 | g.20628032G>A | CA379917274 | SLC6A5 | c.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 |
11 | g.20628032G>C | CA379917275 | SLC6A5 | c.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) | |
11 | g.20628032G>T | CA379917276 | SLC6A5 | c.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) | |
11 | g.20628032_20628033insTT | CA2612827777 | SLC6A5 | c.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 |
11 | g.20628033A= | CA1956619752 | SLC6A5 | c.1449A= (p.Gly483=) c.*746A= (n.*746A=) c.747A= (p.Gly249=) c.573A= (p.Gly191=) c.408A= (p.Gly136=) | |
11 | g.20628033A>C | CA473404236 | SLC6A5 | c.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 |
11 | g.20628033A>G | CA473404237 | SLC6A5 | c.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=) | |
11 | g.20628033A>T | CA473404238 | SLC6A5 | c.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=) | |
11 | g.20628034G>A | CA379917277 | SLC6A5 | c.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) | |
11 | g.20628034G>C | CA379917278 | SLC6A5 | c.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) | |
11 | g.20628034G>T | CA379917279 | SLC6A5 | c.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) | |
11 | g.20628035G>A | CA379917280 | SLC6A5 | c.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 |
11 | g.20628035G>C | CA379917282 | SLC6A5 | c.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) | |
11 | g.20628035G>T | CA379917281 | SLC6A5 | c.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) | |
11 | g.20628036C>A | CA473404239 | SLC6A5 | c.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=) | |
11 | g.20628036C= | CA1956619753 | SLC6A5 | c.1452C= (p.Gly484=) c.*749C= (n.*749C=) c.750C= (p.Gly250=) c.576C= (p.Gly192=) c.411C= (p.Gly137=) | |
11 | g.20628036C>G | CA473404240 | SLC6A5 | c.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 |
11 | g.20628036C>T | CA5921456 | SLC6A5 | c.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 |
11 | g.20628037C>A | CA379917283 | SLC6A5 | c.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) | |
11 | g.20628037C>G | CA379917284 | SLC6A5 | c.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) | |
11 | g.20628037C>T | CA473404241 | SLC6A5 | c.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=) | |
11 | g.20628038T>A | CA379917285 | SLC6A5 | c.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) | |
11 | g.20628038T>C | CA379917286 | SLC6A5 | c.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) | |
11 | g.20628038T>G | CA379917287 | SLC6A5 | c.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) | |
11 | g.20628039G>A | CA473404242 | SLC6A5 | c.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=) | |
11 | g.20628039G>C | CA473404243 | SLC6A5 | c.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=) | |
11 | g.20628039G>T | CA473404244 | SLC6A5 | c.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=) | |
11 | g.20628040A= | CA1956619754 | SLC6A5 | c.1456A= (p.Ile486=) c.*753A= (n.*753A=) c.754A= (p.Ile252=) c.580A= (p.Ile194=) c.415A= (p.Ile139=) | |
11 | g.20628040A>C | CA379917288 | SLC6A5 | c.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 |
11 | g.20628040A>G | CA379917289 | SLC6A5 | c.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 |
11 | g.20628040A>T | CA379917290 | SLC6A5 | c.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) | |
11 | g.20628041T>A | CA379917291 | SLC6A5 | c.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) | |
11 | g.20628041T>C | CA379917292 | SLC6A5 | c.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) | |
11 | g.20628041T>G | CA379917293 | SLC6A5 | c.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) | |
11 | g.20628042C>A | CA473404245 | SLC6A5 | c.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=) | |
11 | g.20628042C= | CA1956619755 | SLC6A5 | c.1458C= (p.Ile486=) c.*755C= (n.*755C=) c.756C= (p.Ile252=) c.582C= (p.Ile194=) c.417C= (p.Ile139=) | |
11 | g.20628042C>G | CA379917294 | SLC6A5 | c.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) | |
11 | g.20628042C>T | CA473404246 | SLC6A5 | c.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 |
11 | g.20628043A>C | CA379917297 | SLC6A5 | c.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) | |
11 | g.20628043A>G | CA379917295 | SLC6A5 | c.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) | |
11 | g.20628043A>T | CA379917296 | SLC6A5 | c.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) | |
11 | g.20628043_20628045delinsACT | CA1956619756 | SLC6A5 | c.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=) | |
11 | g.20628044C>A | CA379917298 | SLC6A5 | c.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) | |
11 | g.20628044C>G | CA379917299 | SLC6A5 | c.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) | |
11 | g.20628044C>T | CA379917300 | SLC6A5 | c.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) | |
11 | g.20628050_20628051del | CA1956619757 | SLC6A5 | c.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 |
11 | g.20628048_20628051del | CA2574780337 | SLC6A5 | c.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) | |
11 | g.20628045T>A | CA473404248 | SLC6A5 | c.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=) | |
11 | g.20628045T>C | CA473404249 | SLC6A5 | c.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=) | |
11 | g.20628045T>G | CA473404247 | SLC6A5 | c.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=) | |
11 | g.20628046C>A | CA379917301 | SLC6A5 | c.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) | |
11 | g.20628046C= | CA1956619758 | SLC6A5 | c.1462C= (p.Leu488=) c.*759C= (n.*759C=) c.760C= (p.Leu254=) c.586C= (p.Leu196=) c.421C= (p.Leu141=) | |
11 | g.20628046C>G | CA379917302 | SLC6A5 | c.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) | |
11 | g.20628046C>T | CA5921457 | SLC6A5 | c.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 |
11 | g.20628047T>A | CA379917303 | SLC6A5 | c.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) | |
11 | g.20628047T>C | CA379917304 | SLC6A5 | c.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) | |
11 | g.20628047T>G | CA379917305 | SLC6A5 | c.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) | |
11 | g.20628048C>A | CA473404250 | SLC6A5 | c.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 |
11 | g.20628048C>G | CA473404252 | SLC6A5 | c.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=) | |
11 | g.20628048C>T | CA473404254 | SLC6A5 | c.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 |
11 | g.20628048_20628051delinsCTCT | CA1956619759 | SLC6A5 | c.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=) | |
11 | g.20628049T>A | CA379917306 | SLC6A5 | c.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) | |
11 | g.20628049T>C | CA379917307 | SLC6A5 | c.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 |
11 | g.20628049T>G | CA379917308 | SLC6A5 | c.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) | |
11 | g.20628053_20628055del | CA674467337 | SLC6A5 | c.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 |
11 | g.20628050C>A | CA379917310 | SLC6A5 | c.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) | |
11 | g.20628050C= | CA1956619760 | SLC6A5 | c.1466C= (p.Ser489=) c.*763C= (n.*763C=) c.764C= (p.Ser255=) c.590C= (p.Ser197=) c.425C= (p.Ser142=) | |
11 | g.20628050C>G | CA379917311 | SLC6A5 | c.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 |
11 | g.20628050C>T | CA379917309 | SLC6A5 | c.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) | |
11 | g.20628051T>A | CA473404256 | SLC6A5 | c.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=) | |
11 | g.20628051T>C | CA473404257 | SLC6A5 | c.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=) | |
11 | g.20628051T>G | CA473404258 | SLC6A5 | c.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=) | |
11 | g.20628052T>A | CA379917313 | SLC6A5 | c.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) | |
11 | g.20628052T>C | CA379917312 | SLC6A5 | c.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) | |
11 | g.20628052T>G | CA379917314 | SLC6A5 | c.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) | |
11 | g.20628053C>A | CA379917315 | SLC6A5 | c.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) | |
11 | g.20628053C= | CA1956619761 | SLC6A5 | c.1469C= (p.Ser490=) c.*766C= (n.*766C=) c.767C= (p.Ser256=) c.593C= (p.Ser198=) c.428C= (p.Ser143=) | |
11 | g.20628053C>G | CA379917317 | SLC6A5 | c.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 |
11 | g.20628053C>T | CA379917316 | SLC6A5 | c.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 |
11 | g.20628054T>A | CA473404260 | SLC6A5 | c.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=) | |
11 | g.20628054T>C | CA218739483 | SLC6A5 | c.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 |
11 | g.20628054T>G | CA473404261 | SLC6A5 | c.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=) | |
11 | g.20628054T= | CA1956619762 | SLC6A5 | c.1470T= (p.Ser490=) c.*767T= (n.*767T=) c.768T= (p.Ser256=) c.594T= (p.Ser198=) c.429T= (p.Ser143=) | |
11 | g.20628055T>A | CA379917318 | SLC6A5 | c.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) | |
11 | g.20628055T>C | CA379917320 | SLC6A5 | c.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 |
11 | g.20628055T>G | CA379917319 | SLC6A5 | c.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) | |
11 | g.20628056A= | CA1956619763 | SLC6A5 | c.1472A= (p.Tyr491=) c.*769A= (n.*769A=) c.770A= (p.Tyr257=) c.596A= (p.Tyr199=) c.431A= (p.Tyr144=) | |
11 | g.20628056A>C | CA379917321 | SLC6A5 | c.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) | |
11 | g.20628056A>G | CA340453 | SLC6A5 | c.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 |
11 | g.20628056A>T | CA379917322 | SLC6A5 | c.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) | |
11 | g.20628057C>A | CA379917323 | SLC6A5 | c.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 |
11 | g.20628057C= | CA1956619764 | SLC6A5 | c.1473C= (p.Tyr491=) c.*770C= (n.*770C=) c.771C= (p.Tyr257=) c.597C= (p.Tyr199=) c.432C= (p.Tyr144=) | |
11 | g.20628057C>G | CA379917324 | SLC6A5 | c.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) | |
11 | g.20628057C>T | CA473404265 | SLC6A5 | c.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 |
11 | g.20628058A>C | CA379917325 | SLC6A5 | c.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) | |
11 | g.20628058A>G | CA379917326 | SLC6A5 | c.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) | |
11 | g.20628058A>T | CA379917327 | SLC6A5 | c.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) | |
11 | g.20628059A= | CA1956619765 | SLC6A5 | c.1475A= (p.Asn492=) c.*772A= (n.*772A=) c.773A= (p.Asn258=) c.599A= (p.Asn200=) c.434A= (p.Asn145=) | |
11 | g.20628059A>C | CA379917328 | SLC6A5 | c.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) | |
11 | g.20628059A>G | CA379917329 | SLC6A5 | c.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 |
11 | g.20628059A>T | CA379917330 | SLC6A5 | c.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) | |
11 | g.20628060C>A | CA379917331 | SLC6A5 | c.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) | |
11 | g.20628060C= | CA1956619766 | SLC6A5 | c.1476C= (p.Asn492=) c.*773C= (n.*773C=) c.774C= (p.Asn258=) c.600C= (p.Asn200=) c.435C= (p.Asn145=) | |
11 | g.20628060C>G | CA379917332 | SLC6A5 | c.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) | |
11 | g.20628060C>T | CA473404266 | SLC6A5 | c.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 |
11 | g.20628061A= | CA1956619767 | SLC6A5 | c.1477A= (p.Lys493=) c.*774A= (n.*774A=) c.775A= (p.Lys259=) c.601A= (p.Lys201=) c.436A= (p.Lys146=) | |
11 | g.20628061A>C | CA379917334 | SLC6A5 | c.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) | |
11 | g.20628061A>G | CA5921458 | SLC6A5 | c.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 |
11 | g.20628061A>T | CA379917333 | SLC6A5 | c.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) | |
11 | g.20628062A>C | CA379917335 | SLC6A5 | c.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) | |
11 | g.20628062A>G | CA379917336 | SLC6A5 | c.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) | |
11 | g.20628062A>T | CA379917337 | SLC6A5 | c.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 |
11 | g.20628063A>C | CA379917338 | SLC6A5 | c.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) | |
11 | g.20628063A>G | CA473404268 | SLC6A5 | c.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=) | |
11 | g.20628063A>T | CA379917339 | SLC6A5 | c.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) | |
11 | g.20628064T>A | CA379917340 | SLC6A5 | c.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 |
11 | g.20628064T>C | CA379917341 | SLC6A5 | c.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) | |
11 | g.20628064T>G | CA379917342 | SLC6A5 | c.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) | |
11 | g.20628065T>A | CA379917343 | SLC6A5 | c.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) | |
11 | g.20628065T>C | CA379917344 | SLC6A5 | c.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) | |
11 | g.20628065T>G | CA379917345 | SLC6A5 | c.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 |
11 | g.20628065T= | CA1956619768 | SLC6A5 | c.1481T= (p.Phe494=) c.*778T= (n.*778T=) c.779T= (p.Phe260=) c.605T= (p.Phe202=) c.440T= (p.Phe147=) | |
11 | g.20628066C>A | CA379917347 | SLC6A5 | c.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) | |
11 | g.20628066C>G | CA379917346 | SLC6A5 | c.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) | |
11 | g.20628066C>T | CA473404271 | SLC6A5 | c.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=) | |
11 | g.20628067C>A | CA379917348 | SLC6A5 | c.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) | |
11 | g.20628067C>G | CA379917349 | SLC6A5 | c.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) | |
11 | g.20628067C>T | CA379917350 | SLC6A5 | c.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) | |
11 | g.20628068A= | CA1956619769 | SLC6A5 | c.1484A= (p.His495=) c.*781A= (n.*781A=) c.782A= (p.His261=) c.608A= (p.His203=) c.443A= (p.His148=) | |
11 | g.20628068A>C | CA379917351 | SLC6A5 | c.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) | |
11 | g.20628068A>G | CA5921459 | SLC6A5 | c.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 |
11 | g.20628068A>T | CA379917352 | SLC6A5 | c.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) | |
11 | g.20628073_20628075del | CA2580615646 | SLC6A5 | c.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 |
11 | g.20628069C>A | CA379917353 | SLC6A5 | c.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) | |
11 | g.20628069C>G | CA379917354 | SLC6A5 | c.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) | |
11 | g.20628069C>T | CA473404273 | SLC6A5 | c.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 |
11 | g.20628070A>C | CA379917355 | SLC6A5 | c.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) | |
11 | g.20628070A>G | CA379917356 | SLC6A5 | c.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) | |
11 | g.20628070A>T | CA379917357 | SLC6A5 | c.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) | |
11 | g.20628071A= | CA1956619770 | SLC6A5 | c.1487A= (p.Asn496=) c.*784A= (n.*784A=) c.785A= (p.Asn262=) c.611A= (p.Asn204=) c.446A= (p.Asn149=) | |
11 | g.20628071A>C | CA379917360 | SLC6A5 | c.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) | |
11 | g.20628071A>G | CA379917359 | SLC6A5 | c.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 |
11 | g.20628071A>T | CA379917358 | SLC6A5 | c.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) | |
11 | g.20628072C>A | CA379917361 | SLC6A5 | c.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) | |
11 | g.20628072C>G | CA379917362 | SLC6A5 | c.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) | |
11 | g.20628072C>T | CA473404275 | SLC6A5 | c.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=) | |
11 | g.20628073A>C | CA379917363 | SLC6A5 | c.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) | |
11 | g.20628073A>G | CA379917364 | SLC6A5 | c.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) | |
11 | g.20628073A>T | CA379917365 | SLC6A5 | c.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) | |
11 | g.20628074A>C | CA379917366 | SLC6A5 | c.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) | |
11 | g.20628074A>G | CA379917367 | SLC6A5 | c.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) | |
11 | g.20628074A>T | CA379917368 | SLC6A5 | c.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) | |
11 | g.20628075C>A | CA379917369 | SLC6A5 | c.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 |
11 | g.20628075C= | CA1956619771 | SLC6A5 | c.1491C= (p.Asn497=) c.*788C= (n.*788C=) c.789C= (p.Asn263=) c.615C= (p.Asn205=) c.450C= (p.Asn150=) | |
11 | g.20628075C>G | CA379917370 | SLC6A5 | c.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) | |
11 | g.20628075C>T | CA473404276 | SLC6A5 | c.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 |
11 | g.20628076T>A | CA379917371 | SLC6A5 | c.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) | |
11 | g.20628076T>C | CA379917372 | SLC6A5 | c.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) | |
11 | g.20628076T>G | CA379917373 | SLC6A5 | c.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) | |
11 | g.20628077G>A | CA5921460 | SLC6A5 | c.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 |
11 | g.20628077G>C | CA379917375 | SLC6A5 | c.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) | |
11 | g.20628077G= | CA1956619772 | SLC6A5 | c.1493G= (p.Cys498=) c.*790G= (n.*790G=) c.791G= (p.Cys264=) c.617G= (p.Cys206=) c.452G= (p.Cys151=) | |
11 | g.20628077G>T | CA379917374 | SLC6A5 | c.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) | |
11 | g.20628078C>A | CA379917377 | SLC6A5 | c.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) | |
11 | g.20628078C>G | CA379917376 | SLC6A5 | c.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) | |
11 | g.20628078C>T | CA473404279 | SLC6A5 | c.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 |
11 | g.20628079T>A | CA379917378 | SLC6A5 | c.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) | |
11 | g.20628079T>C | CA379917379 | SLC6A5 | c.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) | |
11 | g.20628079T>G | CA379917380 | SLC6A5 | c.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) | |
11 | g.20628080A= | CA1956619773 | SLC6A5 | c.1496A= (p.Tyr499=) c.*793A= (n.*793A=) c.794A= (p.Tyr265=) c.620A= (p.Tyr207=) c.455A= (p.Tyr152=) | |
11 | g.20628080A>C | CA379917381 | SLC6A5 | c.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) | |
11 | g.20628080A>G | CA5921462 | SLC6A5 | c.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 |
11 | g.20628080A>T | CA5921461 | SLC6A5 | c.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 |
11 | g.20628081C>A | CA379917382 | SLC6A5 | c.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 |
11 | g.20628081C>G | CA379917383 | SLC6A5 | c.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) | |
11 | g.20628081C>T | CA473404281 | SLC6A5 | c.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 |
11 | g.20628082A>C | CA473404282 | SLC6A5 | c.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=) | |
11 | g.20628082A>G | CA379917384 | SLC6A5 | c.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) | |
11 | g.20628082A>T | CA379917385 | SLC6A5 | c.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) | |
11 | g.20628083G>A | CA379917386 | SLC6A5 | c.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 |
11 | g.20628083G>C | CA379917387 | SLC6A5 | c.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) | |
11 | g.20628083G>T | CA379917388 | SLC6A5 | c.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) | |
11 | g.20628084G>A | CA379917389 | SLC6A5 | c.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) | |
11 | g.20628084G>C | CA379917391 | SLC6A5 | c.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) | |
11 | g.20628084G>T | CA379917390 | SLC6A5 | c.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) | |
11 | g.20628085T>A | CA379917392 | SLC6A5 | c.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) | |
11 | g.20628085T>C | CA379917393 | SLC6A5 | c.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 |
11 | g.20628085T>G | CA379917394 | SLC6A5 | c.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) | |
11 | g.20628085T= | CA1956619774 | SLC6A5 | c.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=) | |
11 | g.20628086A= | CA1956619775 | SLC6A5 | c.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=) | |
11 | g.20628086A>G | CA597487314 | SLC6A5 | c.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 |
11 | g.20628087T>A | CA5921463 | SLC6A5 | c.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 |
11 | g.20628087T>G | CA2612827780 | SLC6A5 | c.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 |
11 | g.20628087T= | CA1956619776 | SLC6A5 | c.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=) | |
11 | g.20628087_20628088insAA | CA2612827781 | SLC6A5 | c.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 |
11 | g.20628088G>A | CA5921464 | SLC6A5 | c.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 |
11 | g.20628088G= | CA1956619777 | SLC6A5 | c.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=) | |
11 | g.20628088G>T | CA5921465 | SLC6A5 | c.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 |
11 | g.20628089T>C | CA1956619779 | SLC6A5 | c.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 |
11 | g.20628089T= | CA1956619778 | SLC6A5 | c.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=) | |
11 | g.20628090A>G | CA2612827782 | SLC6A5 | c.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 |
11 | g.20628091G= | CA1956619780 | SLC6A5 | c.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=) | |
11 | g.20628091G>T | CA597487315 | SLC6A5 | c.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 |