Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
11 | g.20628092A= | CA1956619781 | SLC6A5 | c.1499+9A= (n.1499+9A=) c.*796+9A= (n.*796+9A=) c.797+9A= (n.797+9A=) c.623+9A= (n.623+9A=) c.458+9A= (n.458+9A=) | |
11 | g.20628092A>T | CA5921466 | SLC6A5 | c.1499+9A>T (n.1499+9A>T) c.*796+9A>T (n.*796+9A>T) c.797+9A>T (n.797+9A>T) c.623+9A>T (n.623+9A>T) c.458+9A>T (n.458+9A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.20628093G>A | CA597487316 | SLC6A5 | c.1499+10G>A (n.1499+10G>A) c.*796+10G>A (n.*796+10G>A) c.797+10G>A (n.797+10G>A) c.623+10G>A (n.623+10G>A) c.458+10G>A (n.458+10G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.20628093G= | CA1956619782 | SLC6A5 | c.1499+10G= (n.1499+10G=) c.*796+10G= (n.*796+10G=) c.797+10G= (n.797+10G=) c.623+10G= (n.623+10G=) c.458+10G= (n.458+10G=) | |
11 | g.20628093G>T | CA5921467 | SLC6A5 | c.1499+10G>T (n.1499+10G>T) c.*796+10G>T (n.*796+10G>T) c.797+10G>T (n.797+10G>T) c.623+10G>T (n.623+10G>T) c.458+10G>T (n.458+10G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.20628094G>A | CA2612827783 | SLC6A5 | c.1499+11G>A (n.1499+11G>A) c.*796+11G>A (n.*796+11G>A) c.797+11G>A (n.797+11G>A) c.623+11G>A (n.623+11G>A) c.458+11G>A (n.458+11G>A) | gnomAD v4 |
11 | g.20628096A= | CA1956619783 | SLC6A5 | c.1499+13A= (n.1499+13A=) c.*796+13A= (n.*796+13A=) c.797+13A= (n.797+13A=) c.623+13A= (n.623+13A=) c.458+13A= (n.458+13A=) | |
11 | g.20628096A>G | CA5921468 | SLC6A5 | c.1499+13A>G (n.1499+13A>G) c.*796+13A>G (n.*796+13A>G) c.797+13A>G (n.797+13A>G) c.623+13A>G (n.623+13A>G) c.458+13A>G (n.458+13A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.20628097C>A | CA5921469 | SLC6A5 | c.1499+14C>A (n.1499+14C>A) c.*796+14C>A (n.*796+14C>A) c.797+14C>A (n.797+14C>A) c.623+14C>A (n.623+14C>A) c.458+14C>A (n.458+14C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.20628097C= | CA1956619784 | SLC6A5 | c.1499+14C= (n.1499+14C=) c.*796+14C= (n.*796+14C=) c.797+14C= (n.797+14C=) c.623+14C= (n.623+14C=) c.458+14C= (n.458+14C=) | |
11 | g.20628097C>G | CA5921470 | SLC6A5 | c.1499+14C>G (n.1499+14C>G) c.*796+14C>G (n.*796+14C>G) c.797+14C>G (n.797+14C>G) c.623+14C>G (n.623+14C>G) c.458+14C>G (n.458+14C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.20628098T>A | CA2580996173 | SLC6A5 | c.1499+15T>A (n.1499+15T>A) c.*796+15T>A (n.*796+15T>A) c.797+15T>A (n.797+15T>A) c.623+15T>A (n.623+15T>A) c.458+15T>A (n.458+15T>A) | |
11 | g.20628098T>C | CA5921471 | SLC6A5 | c.1499+15T>C (n.1499+15T>C) c.*796+15T>C (n.*796+15T>C) c.797+15T>C (n.797+15T>C) c.623+15T>C (n.623+15T>C) c.458+15T>C (n.458+15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.20628098T>G | CA5921472 | SLC6A5 | c.1499+15T>G (n.1499+15T>G) c.*796+15T>G (n.*796+15T>G) c.797+15T>G (n.797+15T>G) c.623+15T>G (n.623+15T>G) c.458+15T>G (n.458+15T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.20628098T= | CA1956619785 | SLC6A5 | c.1499+15T= (n.1499+15T=) c.*796+15T= (n.*796+15T=) c.797+15T= (n.797+15T=) c.623+15T= (n.623+15T=) c.458+15T= (n.458+15T=) | |
11 | g.20628099A>G | CA2612827785 | SLC6A5 | c.1499+16A>G (n.1499+16A>G) c.*796+16A>G (n.*796+16A>G) c.797+16A>G (n.797+16A>G) c.623+16A>G (n.623+16A>G) c.458+16A>G (n.458+16A>G) | gnomAD v4 |
11 | g.20628100C>A | CA2612827786 | SLC6A5 | c.1499+17C>A (n.1499+17C>A) c.*796+17C>A (n.*796+17C>A) c.797+17C>A (n.797+17C>A) c.623+17C>A (n.623+17C>A) c.458+17C>A (n.458+17C>A) | gnomAD v4 |
11 | g.20628100C= | CA1956619786 | SLC6A5 | c.1499+17C= (n.1499+17C=) c.*796+17C= (n.*796+17C=) c.797+17C= (n.797+17C=) c.623+17C= (n.623+17C=) c.458+17C= (n.458+17C=) | |
11 | g.20628100C>G | CA2574780338 | SLC6A5 | c.1499+17C>G (n.1499+17C>G) c.*796+17C>G (n.*796+17C>G) c.797+17C>G (n.797+17C>G) c.623+17C>G (n.623+17C>G) c.458+17C>G (n.458+17C>G) | |
11 | g.20628100C>T | CA597487317 | SLC6A5 | c.1499+17C>T (n.1499+17C>T) c.*796+17C>T (n.*796+17C>T) c.797+17C>T (n.797+17C>T) c.623+17C>T (n.623+17C>T) c.458+17C>T (n.458+17C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.20628101A= | CA1956619787 | SLC6A5 | c.1499+18A= (n.1499+18A=) c.*796+18A= (n.*796+18A=) c.797+18A= (n.797+18A=) c.623+18A= (n.623+18A=) c.458+18A= (n.458+18A=) | |
11 | g.20628101A>G | CA597487318 | SLC6A5 | c.1499+18A>G (n.1499+18A>G) c.*796+18A>G (n.*796+18A>G) c.797+18A>G (n.797+18A>G) c.623+18A>G (n.623+18A>G) c.458+18A>G (n.458+18A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.20628104A= | CA1956619788 | SLC6A5 | c.1499+21A= (n.1499+21A=) c.*796+21A= (n.*796+21A=) c.797+21A= (n.797+21A=) c.623+21A= (n.623+21A=) c.458+21A= (n.458+21A=) | |
11 | g.20628104A>T | CA5921473 | SLC6A5 | c.1499+21A>T (n.1499+21A>T) c.*796+21A>T (n.*796+21A>T) c.797+21A>T (n.797+21A>T) c.623+21A>T (n.623+21A>T) c.458+21A>T (n.458+21A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.20628105T>A | CA5921474 | SLC6A5 | c.1499+22T>A (n.1499+22T>A) c.*796+22T>A (n.*796+22T>A) c.797+22T>A (n.797+22T>A) c.623+22T>A (n.623+22T>A) c.458+22T>A (n.458+22T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.20628105T>C | CA2612827787 | SLC6A5 | c.1499+22T>C (n.1499+22T>C) c.*796+22T>C (n.*796+22T>C) c.797+22T>C (n.797+22T>C) c.623+22T>C (n.623+22T>C) c.458+22T>C (n.458+22T>C) | gnomAD v4 |
11 | g.20628105T= | CA1956619789 | SLC6A5 | c.1499+22T= (n.1499+22T=) c.*796+22T= (n.*796+22T=) c.797+22T= (n.797+22T=) c.623+22T= (n.623+22T=) c.458+22T= (n.458+22T=) | |
11 | g.20628107_20628108delinsTG | CA1956619790 | SLC6A5 | c.1499+24_1499+25delinsTG (n.1499+24_1499+25delinsTG) c.*796+24_*796+25delinsTG (n.*796+24_*796+25delinsTG) c.797+24_797+25delinsTG (n.797+24_797+25delinsTG) c.623+24_623+25delinsTG (n.623+24_623+25delinsTG) c.458+24_458+25delinsTG (n.458+24_458+25delinsTG) | |
11 | g.20628108G>A | CA5921475 | SLC6A5 | c.1499+25G>A (n.1499+25G>A) c.*796+25G>A (n.*796+25G>A) c.797+25G>A (n.797+25G>A) c.623+25G>A (n.623+25G>A) c.458+25G>A (n.458+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.20628108G= | CA1956619791 | SLC6A5 | c.1499+25G= (n.1499+25G=) c.*796+25G= (n.*796+25G=) c.797+25G= (n.797+25G=) c.623+25G= (n.623+25G=) c.458+25G= (n.458+25G=) | |
11 | g.20628110del | CA674467451 | SLC6A5 | c.1499+27del (n.1499+27del) c.*796+27del (n.*796+27del) c.797+27del (n.797+27del) c.623+27del (n.623+27del) c.458+27del (n.458+27del) | dbSNP |
11 | g.20628109G>A | CA2612827788 | SLC6A5 | c.1499+26G>A (n.1499+26G>A) c.*796+26G>A (n.*796+26G>A) c.797+26G>A (n.797+26G>A) c.623+26G>A (n.623+26G>A) c.458+26G>A (n.458+26G>A) | gnomAD v4 |
11 | g.20628109G>C | CA2612827789 | SLC6A5 | c.1499+26G>C (n.1499+26G>C) c.*796+26G>C (n.*796+26G>C) c.797+26G>C (n.797+26G>C) c.623+26G>C (n.623+26G>C) c.458+26G>C (n.458+26G>C) | gnomAD v4 |
11 | g.20628110G>A | CA1956619793 | SLC6A5 | c.1499+27G>A (n.1499+27G>A) c.*796+27G>A (n.*796+27G>A) c.797+27G>A (n.797+27G>A) c.623+27G>A (n.623+27G>A) c.458+27G>A (n.458+27G>A) | dbSNP |
11 | g.20628110G>C | CA2612827790 | SLC6A5 | c.1499+27G>C (n.1499+27G>C) c.*796+27G>C (n.*796+27G>C) c.797+27G>C (n.797+27G>C) c.623+27G>C (n.623+27G>C) c.458+27G>C (n.458+27G>C) | gnomAD v4 |
11 | g.20628110G= | CA1956619792 | SLC6A5 | c.1499+27G= (n.1499+27G=) c.*796+27G= (n.*796+27G=) c.797+27G= (n.797+27G=) c.623+27G= (n.623+27G=) c.458+27G= (n.458+27G=) | |
11 | g.20628111C>A | CA2612827791 | SLC6A5 | c.1499+28C>A (n.1499+28C>A) c.*796+28C>A (n.*796+28C>A) c.797+28C>A (n.797+28C>A) c.623+28C>A (n.623+28C>A) c.458+28C>A (n.458+28C>A) | gnomAD v4 |
11 | g.20628111C= | CA1956619794 | SLC6A5 | c.1499+28C= (n.1499+28C=) c.*796+28C= (n.*796+28C=) c.797+28C= (n.797+28C=) c.623+28C= (n.623+28C=) c.458+28C= (n.458+28C=) | |
11 | g.20628111C>T | CA1956619795 | SLC6A5 | c.1499+28C>T (n.1499+28C>T) c.*796+28C>T (n.*796+28C>T) c.797+28C>T (n.797+28C>T) c.623+28C>T (n.623+28C>T) c.458+28C>T (n.458+28C>T) | dbSNP |
11 | g.20628113T>A | CA1956619797 | SLC6A5 | c.1499+30T>A (n.1499+30T>A) c.*796+30T>A (n.*796+30T>A) c.797+30T>A (n.797+30T>A) c.623+30T>A (n.623+30T>A) c.458+30T>A (n.458+30T>A) | dbSNP |
11 | g.20628113T>C | CA5921476 | SLC6A5 | c.1499+30T>C (n.1499+30T>C) c.*796+30T>C (n.*796+30T>C) c.797+30T>C (n.797+30T>C) c.623+30T>C (n.623+30T>C) c.458+30T>C (n.458+30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.20628113T= | CA1956619796 | SLC6A5 | c.1499+30T= (n.1499+30T=) c.*796+30T= (n.*796+30T=) c.797+30T= (n.797+30T=) c.623+30T= (n.623+30T=) c.458+30T= (n.458+30T=) | |
11 | g.20628114A>G | CA2790674320 | SLC6A5 | c.1499+31A>G (n.1499+31A>G) c.*796+31A>G (n.*796+31A>G) c.797+31A>G (n.797+31A>G) c.623+31A>G (n.623+31A>G) c.458+31A>G (n.458+31A>G) | |
11 | g.20628114A>T | CA2612827792 | SLC6A5 | c.1499+31A>T (n.1499+31A>T) c.*796+31A>T (n.*796+31A>T) c.797+31A>T (n.797+31A>T) c.623+31A>T (n.623+31A>T) c.458+31A>T (n.458+31A>T) | gnomAD v4 |
11 | g.20628116_20628161dup | CA935753358 | SLC6A5 | c.1499+33_1499+78dup (n.1499+33_1499+78dup) c.*796+33_*796+78dup (n.*796+33_*796+78dup) c.797+33_797+78dup (n.797+33_797+78dup) c.623+33_623+78dup (n.623+33_623+78dup) c.458+33_458+78dup (n.458+33_458+78dup) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.20628116C>A | CA2574780339 | SLC6A5 | c.1499+33C>A (n.1499+33C>A) c.*796+33C>A (n.*796+33C>A) c.797+33C>A (n.797+33C>A) c.623+33C>A (n.623+33C>A) c.458+33C>A (n.458+33C>A) | gnomAD v4 |
11 | g.20628117T>A | CA5921477 | SLC6A5 | c.1499+34T>A (n.1499+34T>A) c.*796+34T>A (n.*796+34T>A) c.797+34T>A (n.797+34T>A) c.623+34T>A (n.623+34T>A) c.458+34T>A (n.458+34T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.20628117T= | CA1956619798 | SLC6A5 | c.1499+34T= (n.1499+34T=) c.*796+34T= (n.*796+34T=) c.797+34T= (n.797+34T=) c.623+34T= (n.623+34T=) c.458+34T= (n.458+34T=) | |
11 | g.20628118G>A | CA5921478 | SLC6A5 | c.1499+35G>A (n.1499+35G>A) c.*796+35G>A (n.*796+35G>A) c.797+35G>A (n.797+35G>A) c.623+35G>A (n.623+35G>A) c.458+35G>A (n.458+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.20628118G>C | CA2612827793 | SLC6A5 | c.1499+35G>C (n.1499+35G>C) c.*796+35G>C (n.*796+35G>C) c.797+35G>C (n.797+35G>C) c.623+35G>C (n.623+35G>C) c.458+35G>C (n.458+35G>C) | gnomAD v4 |
11 | g.20628118G= | CA1956619799 | SLC6A5 | c.1499+35G= (n.1499+35G=) c.*796+35G= (n.*796+35G=) c.797+35G= (n.797+35G=) c.623+35G= (n.623+35G=) c.458+35G= (n.458+35G=) | |
11 | g.20628119G>A | CA674467455 | SLC6A5 | c.1499+36G>A (n.1499+36G>A) c.*796+36G>A (n.*796+36G>A) c.797+36G>A (n.797+36G>A) c.623+36G>A (n.623+36G>A) c.458+36G>A (n.458+36G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.20628119G= | CA1956619800 | SLC6A5 | c.1499+36G= (n.1499+36G=) c.*796+36G= (n.*796+36G=) c.797+36G= (n.797+36G=) c.623+36G= (n.623+36G=) c.458+36G= (n.458+36G=) | |
11 | g.20628120T>A | CA2612827794 | SLC6A5 | c.1499+37T>A (n.1499+37T>A) c.*796+37T>A (n.*796+37T>A) c.797+37T>A (n.797+37T>A) c.623+37T>A (n.623+37T>A) c.458+37T>A (n.458+37T>A) | gnomAD v4 |
11 | g.20628120T>C | CA2790674321 | SLC6A5 | c.1499+37T>C (n.1499+37T>C) c.*796+37T>C (n.*796+37T>C) c.797+37T>C (n.797+37T>C) c.623+37T>C (n.623+37T>C) c.458+37T>C (n.458+37T>C) | |
11 | g.20628121G>T | CA2841951549 | SLC6A5 | c.1499+38G>T (n.1499+38G>T) c.*796+38G>T (n.*796+38G>T) c.797+38G>T (n.797+38G>T) c.623+38G>T (n.623+38G>T) c.458+38G>T (n.458+38G>T) | |
11 | g.20628122A>G | CA2612827795 | SLC6A5 | c.1499+39A>G (n.1499+39A>G) c.*796+39A>G (n.*796+39A>G) c.797+39A>G (n.797+39A>G) c.623+39A>G (n.623+39A>G) c.458+39A>G (n.458+39A>G) | gnomAD v4 |
11 | g.20628124T>A | CA2612827796 | SLC6A5 | c.1499+41T>A (n.1499+41T>A) c.*796+41T>A (n.*796+41T>A) c.797+41T>A (n.797+41T>A) c.623+41T>A (n.623+41T>A) c.458+41T>A (n.458+41T>A) | gnomAD v4 |
11 | g.20628124T>G | CA2790674322 | SLC6A5 | c.1499+41T>G (n.1499+41T>G) c.*796+41T>G (n.*796+41T>G) c.797+41T>G (n.797+41T>G) c.623+41T>G (n.623+41T>G) c.458+41T>G (n.458+41T>G) | |
11 | g.20628125G>A | CA2612827798 | SLC6A5 | c.1499+42G>A (n.1499+42G>A) c.*796+42G>A (n.*796+42G>A) c.797+42G>A (n.797+42G>A) c.623+42G>A (n.623+42G>A) c.458+42G>A (n.458+42G>A) | gnomAD v4 |
11 | g.20628126G>A | CA5921479 | SLC6A5 | c.1499+43G>A (n.1499+43G>A) c.*796+43G>A (n.*796+43G>A) c.797+43G>A (n.797+43G>A) c.623+43G>A (n.623+43G>A) c.458+43G>A (n.458+43G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.20628126G= | CA1956619801 | SLC6A5 | c.1499+43G= (n.1499+43G=) c.*796+43G= (n.*796+43G=) c.797+43G= (n.797+43G=) c.623+43G= (n.623+43G=) c.458+43G= (n.458+43G=) | |
11 | g.20628127G>A | CA2612827799 | SLC6A5 | c.1499+44G>A (n.1499+44G>A) c.*796+44G>A (n.*796+44G>A) c.797+44G>A (n.797+44G>A) c.623+44G>A (n.623+44G>A) c.458+44G>A (n.458+44G>A) | gnomAD v4 |
11 | g.20628127G>C | CA5921480 | SLC6A5 | c.1499+44G>C (n.1499+44G>C) c.*796+44G>C (n.*796+44G>C) c.797+44G>C (n.797+44G>C) c.623+44G>C (n.623+44G>C) c.458+44G>C (n.458+44G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.20628127G= | CA1956619802 | SLC6A5 | c.1499+44G= (n.1499+44G=) c.*796+44G= (n.*796+44G=) c.797+44G= (n.797+44G=) c.623+44G= (n.623+44G=) c.458+44G= (n.458+44G=) | |
11 | g.20628127G>T | CA2574780340 | SLC6A5 | c.1499+44G>T (n.1499+44G>T) c.*796+44G>T (n.*796+44G>T) c.797+44G>T (n.797+44G>T) c.623+44G>T (n.623+44G>T) c.458+44G>T (n.458+44G>T) | gnomAD v4 |
11 | g.20628129C>A | CA1956619805 | SLC6A5 | c.1499+46C>A (n.1499+46C>A) c.*796+46C>A (n.*796+46C>A) c.797+46C>A (n.797+46C>A) c.623+46C>A (n.623+46C>A) c.458+46C>A (n.458+46C>A) | dbSNP gnomAD v4 |
11 | g.20628129C= | CA1956619804 | SLC6A5 | c.1499+46C= (n.1499+46C=) c.*796+46C= (n.*796+46C=) c.797+46C= (n.797+46C=) c.623+46C= (n.623+46C=) c.458+46C= (n.458+46C=) | |
11 | g.20628129C>T | CA1956619803 | SLC6A5 | c.1499+46C>T (n.1499+46C>T) c.*796+46C>T (n.*796+46C>T) c.797+46C>T (n.797+46C>T) c.623+46C>T (n.623+46C>T) c.458+46C>T (n.458+46C>T) | dbSNP gnomAD v4 |
11 | g.20628130A>G | CA2612827800 | SLC6A5 | c.1499+47A>G (n.1499+47A>G) c.*796+47A>G (n.*796+47A>G) c.797+47A>G (n.797+47A>G) c.623+47A>G (n.623+47A>G) c.458+47A>G (n.458+47A>G) | gnomAD v4 |
11 | g.20628131G>T | CA2612827801 | SLC6A5 | c.1499+48G>T (n.1499+48G>T) c.*796+48G>T (n.*796+48G>T) c.797+48G>T (n.797+48G>T) c.623+48G>T (n.623+48G>T) c.458+48G>T (n.458+48G>T) | gnomAD v4 |
11 | g.20628132A>G | CA2612827802 | SLC6A5 | c.1499+49A>G (n.1499+49A>G) c.*796+49A>G (n.*796+49A>G) c.797+49A>G (n.797+49A>G) c.623+49A>G (n.623+49A>G) c.458+49A>G (n.458+49A>G) | gnomAD v4 |
11 | g.20628133A>C | CA2612827803 | SLC6A5 | c.1499+50A>C (n.1499+50A>C) c.*796+50A>C (n.*796+50A>C) c.797+50A>C (n.797+50A>C) c.623+50A>C (n.623+50A>C) c.458+50A>C (n.458+50A>C) | gnomAD v4 |
11 | g.20628134G>T | CA2612827804 | SLC6A5 | c.1499+51G>T (n.1499+51G>T) c.*796+51G>T (n.*796+51G>T) c.797+51G>T (n.797+51G>T) c.623+51G>T (n.623+51G>T) c.458+51G>T (n.458+51G>T) | gnomAD v4 |
11 | g.20628135A= | CA1956619806 | SLC6A5 | c.1499+52A= (n.1499+52A=) c.*796+52A= (n.*796+52A=) c.797+52A= (n.797+52A=) c.623+52A= (n.623+52A=) c.458+52A= (n.458+52A=) | |
11 | g.20628135A>T | CA1956619807 | SLC6A5 | c.1499+52A>T (n.1499+52A>T) c.*796+52A>T (n.*796+52A>T) c.797+52A>T (n.797+52A>T) c.623+52A>T (n.623+52A>T) c.458+52A>T (n.458+52A>T) | dbSNP gnomAD v3 gnomAD v4 |