Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89268435_89268463delinsAGCCGTGCGGCCCTCGCCTGCGTCCTGCGCA2241594730ANKRD11c.*15_*43delinsCGCAGGACGCAGGCGAGGGCCGCACGGCT (n.*15_*43delinsCGCAGGACGCAGGCGAGGGCCGCACGGCT)
c.*7810_*7838delinsCGCAGGACGCAGGCGAGGGCCGCACGGCT (n.*7810_*7838delinsCGCAGGACGCAGGCGAGGGCCGCACGGCT)
c.1281_1309delinsCGCAGGACGCAGGCGAGGGCCGCACGGCT (n.1281_1309delinsCGCAGGACGCAGGCGAGGGCCGCACGGCT)
16g.89268441_89268468delCA725692036ANKRD11c.*15_*42del (n.*15_*42del)
c.*7810_*7837del (n.*7810_*7837del)
c.1281_1308del (n.1281_1308del)
dbSNP gnomAD v3 gnomAD v4
16g.89268439_89268459delinsGTGCGGCCCTCGCCTGCGTCCCA2241594734ANKRD11c.*19_*39delinsGGACGCAGGCGAGGGCCGCAC (n.*19_*39delinsGGACGCAGGCGAGGGCCGCAC)
c.*7814_*7834delinsGGACGCAGGCGAGGGCCGCAC (n.*7814_*7834delinsGGACGCAGGCGAGGGCCGCAC)
c.1285_1305delinsGGACGCAGGCGAGGGCCGCAC (n.1285_1305delinsGGACGCAGGCGAGGGCCGCAC)
16g.89268447_89268466delCA919767951ANKRD11c.*19_*38del (n.*19_*38del)
c.*7814_*7833del (n.*7814_*7833del)
c.1285_1304del (n.1285_1304del)
dbSNP gnomAD v4
16g.89268448_89268460delCA2634939846ANKRD11c.*18_*30del (n.*18_*30del)
c.*7813_*7825del (n.*7813_*7825del)
c.1284_1296del (n.1284_1296del)
gnomAD v4
16g.89268450_89268457delinsGCCTGCGTCA2241594742ANKRD11c.*21_*28delinsACGCAGGC (n.*21_*28delinsACGCAGGC)
c.*7816_*7823delinsACGCAGGC (n.*7816_*7823delinsACGCAGGC)
c.1287_1294delinsACGCAGGC (n.1287_1294delinsACGCAGGC)
16g.89268457_89268463delCA624452493ANKRD11c.*21_*27del (n.*21_*27del)
c.*7816_*7822del (n.*7816_*7822del)
c.1287_1293del (n.1287_1293del)
dbSNP gnomAD v2 gnomAD v4
16g.89268452C>ACA497165431ANKRD11c.*26G>T (n.*26G>T)
c.*7821G>T (n.*7821G>T)
c.1292G>T (n.1292G>T)
16g.89268452C=CA2241594744ANKRD11c.*26G= (n.*26G=)
c.*7821G= (n.*7821G=)
c.1292G= (n.1292G=)
16g.89268452C>GCA497165432ANKRD11c.*26G>C (n.*26G>C)
c.*7821G>C (n.*7821G>C)
c.1292G>C (n.1292G>C)
dbSNP gnomAD v3 gnomAD v4
16g.89268452C>TCA8240960ANKRD11c.*26G>A (n.*26G>A)
c.*7821G>A (n.*7821G>A)
c.1292G>A (n.1292G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89268453T>ACA497165436ANKRD11c.*25A>T (n.*25A>T)
c.*7820A>T (n.*7820A>T)
c.1291A>T (n.1291A>T)
16g.89268453T>CCA497165437ANKRD11c.*25A>G (n.*25A>G)
c.*7820A>G (n.*7820A>G)
c.1291A>G (n.1291A>G)
16g.89268453T>GCA497165438ANKRD11c.*25A>C (n.*25A>C)
c.*7820A>C (n.*7820A>C)
c.1291A>C (n.1291A>C)
gnomAD v4
16g.89268454G>ACA497165439ANKRD11c.*24C>T (n.*24C>T)
c.*7819C>T (n.*7819C>T)
c.1290C>T (n.1290C>T)
16g.89268454G>CCA497165440ANKRD11c.*24C>G (n.*24C>G)
c.*7819C>G (n.*7819C>G)
c.1290C>G (n.1290C>G)
16g.89268454G>TCA497165441ANKRD11c.*24C>A (n.*24C>A)
c.*7819C>A (n.*7819C>A)
c.1290C>A (n.1290C>A)
16g.89268455C>ACA497165447ANKRD11c.*23G>T (n.*23G>T)
c.*7818G>T (n.*7818G>T)
c.1289G>T (n.1289G>T)
16g.89268455C>GCA497165442ANKRD11c.*23G>C (n.*23G>C)
c.*7818G>C (n.*7818G>C)
c.1289G>C (n.1289G>C)
16g.89268455C>TCA497165445ANKRD11c.*23G>A (n.*23G>A)
c.*7818G>A (n.*7818G>A)
c.1289G>A (n.1289G>A)
gnomAD v3 gnomAD v4
16g.89268460_89268470delCA2634939847ANKRD11c.*13_*23del (n.*13_*23del)
c.*7808_*7818del (n.*7808_*7818del)
c.1279_1289del (n.1279_1289del)
gnomAD v4
16g.89268456G>ACA497165448ANKRD11c.*22C>T (n.*22C>T)
c.*7817C>T (n.*7817C>T)
c.1288C>T (n.1288C>T)
dbSNP gnomAD v4
16g.89268456G>CCA497165449ANKRD11c.*22C>G (n.*22C>G)
c.*7817C>G (n.*7817C>G)
c.1288C>G (n.1288C>G)
16g.89268456G=CA2241594745ANKRD11c.*22C= (n.*22C=)
c.*7817C= (n.*7817C=)
c.1288C= (n.1288C=)
16g.89268456G>TCA497165450ANKRD11c.*22C>A (n.*22C>A)
c.*7817C>A (n.*7817C>A)
c.1288C>A (n.1288C>A)
gnomAD v4
16g.89268457T>ACA497165451ANKRD11c.*21A>T (n.*21A>T)
c.*7816A>T (n.*7816A>T)
c.1287A>T (n.1287A>T)
16g.89268457T>CCA497165452ANKRD11c.*21A>G (n.*21A>G)
c.*7816A>G (n.*7816A>G)
c.1287A>G (n.1287A>G)
16g.89268457T>GCA497165453ANKRD11c.*21A>C (n.*21A>C)
c.*7816A>C (n.*7816A>C)
c.1287A>C (n.1287A>C)
gnomAD v4
16g.89268457_89268464delinsTCCTGCGGCA2241594746ANKRD11c.*14_*21delinsCCGCAGGA (n.*14_*21delinsCCGCAGGA)
c.*7809_*7816delinsCCGCAGGA (n.*7809_*7816delinsCCGCAGGA)
c.1280_1287delinsCCGCAGGA (n.1280_1287delinsCCGCAGGA)
16g.89268458C>ACA497165454ANKRD11c.*20G>T (n.*20G>T)
c.*7815G>T (n.*7815G>T)
c.1286G>T (n.1286G>T)
16g.89268458C=CA2241594747ANKRD11c.*20G= (n.*20G=)
c.*7815G= (n.*7815G=)
c.1286G= (n.1286G=)
16g.89268458C>GCA497165455ANKRD11c.*20G>C (n.*20G>C)
c.*7815G>C (n.*7815G>C)
c.1286G>C (n.1286G>C)
16g.89268458C>TCA497165456ANKRD11c.*20G>A (n.*20G>A)
c.*7815G>A (n.*7815G>A)
c.1286G>A (n.1286G>A)
gnomAD v4
16g.89268460_89268466delCA8240961ANKRD11c.*14_*20del (n.*14_*20del)
c.*7809_*7815del (n.*7809_*7815del)
c.1280_1286del (n.1280_1286del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89268458_89268459insACA2241594748ANKRD11c.*19_*20insT (n.*19_*20insT)
c.*7814_*7815insT (n.*7814_*7815insT)
c.1285_1286insT (n.1285_1286insT)
dbSNP
16g.89268459C>ACA497165457ANKRD11c.*19G>T (n.*19G>T)
c.*7814G>T (n.*7814G>T)
c.1285G>T (n.1285G>T)
16g.89268459C>GCA497165458ANKRD11c.*19G>C (n.*19G>C)
c.*7814G>C (n.*7814G>C)
c.1285G>C (n.1285G>C)
16g.89268459C>TCA497165459ANKRD11c.*19G>A (n.*19G>A)
c.*7814G>A (n.*7814G>A)
c.1285G>A (n.1285G>A)
16g.89268460T>ACA497165462ANKRD11c.*18A>T (n.*18A>T)
c.*7813A>T (n.*7813A>T)
c.1284A>T (n.1284A>T)
16g.89268460T>CCA497165460ANKRD11c.*18A>G (n.*18A>G)
c.*7813A>G (n.*7813A>G)
c.1284A>G (n.1284A>G)
16g.89268460T>GCA497165461ANKRD11c.*18A>C (n.*18A>C)
c.*7813A>C (n.*7813A>C)
c.1284A>C (n.1284A>C)
16g.89268460_89268471delinsTGCGGCCGTCCCCA2241594749ANKRD11c.*7_*18delinsGGGACGGCCGCA (n.*7_*18delinsGGGACGGCCGCA)
c.*7802_*7813delinsGGGACGGCCGCA (n.*7802_*7813delinsGGGACGGCCGCA)
c.1273_1284delinsGGGACGGCCGCA (n.1273_1284delinsGGGACGGCCGCA)
16g.89268461G>ACA497165463ANKRD11c.*17C>T (n.*17C>T)
c.*7812C>T (n.*7812C>T)
c.1283C>T (n.1283C>T)
16g.89268461G>CCA497165464ANKRD11c.*17C>G (n.*17C>G)
c.*7812C>G (n.*7812C>G)
c.1283C>G (n.1283C>G)
16g.89268461G>TCA497165465ANKRD11c.*17C>A (n.*17C>A)
c.*7812C>A (n.*7812C>A)
c.1283C>A (n.1283C>A)
16g.89268465_89268475dupCA980390191ANKRD11c.*7_*17dup (n.*7_*17dup)
c.*7802_*7812dup (n.*7802_*7812dup)
c.1273_1283dup (n.1273_1283dup)
dbSNP gnomAD v3 gnomAD v4
16g.89268465_89268475delCA980390193ANKRD11c.*7_*17del (n.*7_*17del)
c.*7802_*7812del (n.*7802_*7812del)
c.1273_1283del (n.1273_1283del)
dbSNP gnomAD v3 gnomAD v4
16g.89268462C>ACA497165468ANKRD11c.*16G>T (n.*16G>T)
c.*7811G>T (n.*7811G>T)
c.1282G>T (n.1282G>T)
16g.89268462C=CA2241594750ANKRD11c.*16G= (n.*16G=)
c.*7811G= (n.*7811G=)
c.1282G= (n.1282G=)
16g.89268462C>GCA497165470ANKRD11c.*16G>C (n.*16G>C)
c.*7811G>C (n.*7811G>C)
c.1282G>C (n.1282G>C)
16g.89268462C>TCA8240962ANKRD11c.*16G>A (n.*16G>A)
c.*7811G>A (n.*7811G>A)
c.1282G>A (n.1282G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89268463G>ACA497165471ANKRD11c.*15C>T (n.*15C>T)
c.*7810C>T (n.*7810C>T)
c.1281C>T (n.1281C>T)
16g.89268463G>CCA497165472ANKRD11c.*15C>G (n.*15C>G)
c.*7810C>G (n.*7810C>G)
c.1281C>G (n.1281C>G)
gnomAD v3 gnomAD v4
16g.89268463G>TCA497165473ANKRD11c.*15C>A (n.*15C>A)
c.*7810C>A (n.*7810C>A)
c.1281C>A (n.1281C>A)
gnomAD v4
16g.89268464G>ACA497165474ANKRD11c.*14C>T (n.*14C>T)
c.*7809C>T (n.*7809C>T)
c.1280C>T (n.1280C>T)
16g.89268464G>CCA497165475ANKRD11c.*14C>G (n.*14C>G)
c.*7809C>G (n.*7809C>G)
c.1280C>G (n.1280C>G)
16g.89268464G=CA2241594751ANKRD11c.*14C= (n.*14C=)
c.*7809C= (n.*7809C=)
c.1280C= (n.1280C=)
16g.89268464G>TCA497165478ANKRD11c.*14C>A (n.*14C>A)
c.*7809C>A (n.*7809C>A)
c.1280C>A (n.1280C>A)
dbSNP gnomAD v4
16g.89268465C>ACA497165480ANKRD11c.*13G>T (n.*13G>T)
c.*7808G>T (n.*7808G>T)
c.1279G>T (n.1279G>T)
16g.89268465C>GCA497165483ANKRD11c.*13G>C (n.*13G>C)
c.*7808G>C (n.*7808G>C)
c.1279G>C (n.1279G>C)
16g.89268465C>TCA497165482ANKRD11c.*13G>A (n.*13G>A)
c.*7808G>A (n.*7808G>A)
c.1279G>A (n.1279G>A)
gnomAD v4
16g.89268466C>ACA497165484ANKRD11c.*12G>T (n.*12G>T)
c.*7807G>T (n.*7807G>T)
c.1278G>T (n.1278G>T)
16g.89268466C=CA2241594752ANKRD11c.*12G= (n.*12G=)
c.*7807G= (n.*7807G=)
c.1278G= (n.1278G=)
16g.89268466C>GCA497165486ANKRD11c.*12G>C (n.*12G>C)
c.*7807G>C (n.*7807G>C)
c.1278G>C (n.1278G>C)
16g.89268466C>TCA497165485ANKRD11c.*12G>A (n.*12G>A)
c.*7807G>A (n.*7807G>A)
c.1278G>A (n.1278G>A)
dbSNP gnomAD v3 gnomAD v4
16g.89268466_89268476dupCA2576097056ANKRD11c.*2_*12dup (n.*2_*12dup)
c.*7797_*7807dup (n.*7797_*7807dup)
c.1268_1278dup (n.1268_1278dup)
16g.89268467G>ACA286503910ANKRD11c.*11C>T (n.*11C>T)
c.*7806C>T (n.*7806C>T)
c.1277C>T (n.1277C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89268467G>CCA497165489ANKRD11c.*11C>G (n.*11C>G)
c.*7806C>G (n.*7806C>G)
c.1277C>G (n.1277C>G)
16g.89268467G=CA2241594753ANKRD11c.*11C= (n.*11C=)
c.*7806C= (n.*7806C=)
c.1277C= (n.1277C=)
16g.89268467G>TCA497165488ANKRD11c.*11C>A (n.*11C>A)
c.*7806C>A (n.*7806C>A)
c.1277C>A (n.1277C>A)
gnomAD v4
16g.89268468T>ACA497165490ANKRD11c.*10A>T (n.*10A>T)
c.*7805A>T (n.*7805A>T)
c.1276A>T (n.1276A>T)
16g.89268468T>CCA497165491ANKRD11c.*10A>G (n.*10A>G)
c.*7805A>G (n.*7805A>G)
c.1276A>G (n.1276A>G)
16g.89268468T>GCA497165492ANKRD11c.*10A>C (n.*10A>C)
c.*7805A>C (n.*7805A>C)
c.1276A>C (n.1276A>C)
16g.89268468T=CA2241594754ANKRD11c.*10A= (n.*10A=)
c.*7805A= (n.*7805A=)
c.1276A= (n.1276A=)
16g.89268469C>ACA497165493ANKRD11c.*9G>T (n.*9G>T)
c.*7804G>T (n.*7804G>T)
c.1275G>T (n.1275G>T)
16g.89268469C>GCA497165494ANKRD11c.*9G>C (n.*9G>C)
c.*7804G>C (n.*7804G>C)
c.1275G>C (n.1275G>C)
16g.89268469C>TCA497165495ANKRD11c.*9G>A (n.*9G>A)
c.*7804G>A (n.*7804G>A)
c.1275G>A (n.1275G>A)
16g.89268471dupCA725692088ANKRD11c.*9dup (n.*9dup)
c.*7804dup (n.*7804dup)
c.1275dup (n.1275dup)
dbSNP gnomAD v3 gnomAD v4
16g.89268470C>ACA497165496ANKRD11c.*8G>T (n.*8G>T)
c.*7803G>T (n.*7803G>T)
c.1274G>T (n.1274G>T)
16g.89268470C=CA2241594755ANKRD11c.*8G= (n.*8G=)
c.*7803G= (n.*7803G=)
c.1274G= (n.1274G=)
16g.89268470C>GCA497165498ANKRD11c.*8G>C (n.*8G>C)
c.*7803G>C (n.*7803G>C)
c.1274G>C (n.1274G>C)
16g.89268470C>TCA8240963ANKRD11c.*8G>A (n.*8G>A)
c.*7803G>A (n.*7803G>A)
c.1274G>A (n.1274G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89268471C>ACA497165499ANKRD11c.*7G>T (n.*7G>T)
c.*7802G>T (n.*7802G>T)
c.1273G>T (n.1273G>T)
16g.89268471C=CA2241594756ANKRD11c.*7G= (n.*7G=)
c.*7802G= (n.*7802G=)
c.1273G= (n.1273G=)
16g.89268471C>GCA497165500ANKRD11c.*7G>C (n.*7G>C)
c.*7802G>C (n.*7802G>C)
c.1273G>C (n.1273G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89268471C>TCA8240964ANKRD11c.*7G>A (n.*7G>A)
c.*7802G>A (n.*7802G>A)
c.1273G>A (n.1273G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89268472G>ACA497165501ANKRD11c.*6C>T (n.*6C>T)
c.*7801C>T (n.*7801C>T)
c.1272C>T (n.1272C>T)
16g.89268472G>CCA497165503ANKRD11c.*6C>G (n.*6C>G)
c.*7801C>G (n.*7801C>G)
c.1272C>G (n.1272C>G)
16g.89268472G=CA2241594757ANKRD11c.*6C= (n.*6C=)
c.*7801C= (n.*7801C=)
c.1272C= (n.1272C=)
16g.89268472G>TCA8240965ANKRD11c.*6C>A (n.*6C>A)
c.*7801C>A (n.*7801C>A)
c.1272C>A (n.1272C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89268473C>ACA497165505ANKRD11c.*5G>T (n.*5G>T)
c.*7800G>T (n.*7800G>T)
c.1271G>T (n.1271G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89268473C=CA2241594758ANKRD11c.*5G= (n.*5G=)
c.*7800G= (n.*7800G=)
c.1271G= (n.1271G=)
16g.89268473C>GCA497165506ANKRD11c.*5G>C (n.*5G>C)
c.*7800G>C (n.*7800G>C)
c.1271G>C (n.1271G>C)
16g.89268473C>TCA8240966ANKRD11c.*5G>A (n.*5G>A)
c.*7800G>A (n.*7800G>A)
c.1271G>A (n.1271G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89268474G>ACA8240967ANKRD11c.*4C>T (n.*4C>T)
c.*7799C>T (n.*7799C>T)
c.1270C>T (n.1270C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89268474G>CCA497165507ANKRD11c.*4C>G (n.*4C>G)
c.*7799C>G (n.*7799C>G)
c.1270C>G (n.1270C>G)
16g.89268474G=CA2241594759ANKRD11c.*4C= (n.*4C=)
c.*7799C= (n.*7799C=)
c.1270C= (n.1270C=)
16g.89268474G>TCA497165508ANKRD11c.*4C>A (n.*4C>A)
c.*7799C>A (n.*7799C>A)
c.1270C>A (n.1270C>A)
16g.89268475G>ACA497165510ANKRD11c.*3C>T (n.*3C>T)
c.*7798C>T (n.*7798C>T)
c.1269C>T (n.1269C>T)
16g.89268475G>CCA497165512ANKRD11c.*3C>G (n.*3C>G)
c.*7798C>G (n.*7798C>G)
c.1269C>G (n.1269C>G)
dbSNP gnomAD v4
16g.89268475G=CA2241594760ANKRD11c.*3C= (n.*3C=)
c.*7798C= (n.*7798C=)
c.1269C= (n.1269C=)
16g.89268475G>TCA497165514ANKRD11c.*3C>A (n.*3C>A)
c.*7798C>A (n.*7798C>A)
c.1269C>A (n.1269C>A)
gnomAD v4
16g.89268476T>ACA497165552ANKRD11c.*2A>T (n.*2A>T)
c.*7797A>T (n.*7797A>T)
c.1268A>T (n.1268A>T)
16g.89268476T>CCA497165551ANKRD11c.*2A>G (n.*2A>G)
c.*7797A>G (n.*7797A>G)
c.1268A>G (n.1268A>G)
16g.89268476T>GCA497165550ANKRD11c.*2A>C (n.*2A>C)
c.*7797A>C (n.*7797A>C)
c.1268A>C (n.1268A>C)
16g.89268477G>ACA497165553ANKRD11c.*1C>T (n.*1C>T)
c.*7796C>T (n.*7796C>T)
c.1267C>T (n.1267C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89268477G>CCA497165554ANKRD11c.*1C>G (n.*1C>G)
c.*7796C>G (n.*7796C>G)
c.1267C>G (n.1267C>G)
16g.89268477G=CA2241594761ANKRD11c.*1C= (n.*1C=)
c.*7796C= (n.*7796C=)
c.1267C= (n.1267C=)
16g.89268477G>TCA497165555ANKRD11c.*1C>A (n.*1C>A)
c.*7796C>A (n.*7796C>A)
c.1267C>A (n.1267C>A)
16g.89268478T>ACA397144884ANKRD11c.7992A>T (p.Ter2664Cys)
c.*7795A>T (n.*7795A>T)
c.1266A>T (p.Ter422Cys)
c.7890A>T (p.Ter2630Cys)
c.7695A>T (p.Ter2565Cys)
c.7863A>T (p.Ter2621Cys)
16g.89268478T>CCA397144885ANKRD11c.7992A>G (p.Ter2664Trp)
c.*7795A>G (n.*7795A>G)
c.1266A>G (p.Ter422Trp)
c.7890A>G (p.Ter2630Trp)
c.7695A>G (p.Ter2565Trp)
c.7863A>G (p.Ter2621Trp)
16g.89268478T>GCA397144886ANKRD11c.7992A>C (p.Ter2664Cys)
c.*7795A>C (n.*7795A>C)
c.1266A>C (p.Ter422Cys)
c.7890A>C (p.Ter2630Cys)
c.7695A>C (p.Ter2565Cys)
c.7863A>C (p.Ter2621Cys)
16g.89268479C>ACA397144887ANKRD11c.7991G>T (p.Ter2664Leu)
c.*7794G>T (n.*7794G>T)
c.1265G>T (p.Ter422Leu)
c.7889G>T (p.Ter2630Leu)
c.7694G>T (p.Ter2565Leu)
c.7862G>T (p.Ter2621Leu)
16g.89268479C=CA2241594762ANKRD11c.7991G= (p.Ter2664=)
c.*7794G= (n.*7794G=)
c.1265G= (p.Ter422=)
c.7889G= (p.Ter2630=)
c.7694G= (p.Ter2565=)
c.7862G= (p.Ter2621=)
16g.89268479C>GCA397144888ANKRD11c.7991G>C (p.Ter2664Ser)
c.*7794G>C (n.*7794G>C)
c.1265G>C (p.Ter422Ser)
c.7889G>C (p.Ter2630Ser)
c.7694G>C (p.Ter2565Ser)
c.7862G>C (p.Ter2621Ser)
16g.89268479C>TCA8240968ANKRD11c.7991G>A (p.Ter2664=)
c.*7794G>A (n.*7794G>A)
c.1265G>A (p.Ter422=)
c.7889G>A (p.Ter2630=)
c.7694G>A (p.Ter2565=)
c.7862G>A (p.Ter2621=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89268480A>CCA397144889ANKRD11c.7990T>G (p.Ter2664Gly)
c.*7793T>G (n.*7793T>G)
c.1264T>G (p.Ter422Gly)
c.7888T>G (p.Ter2630Gly)
c.7693T>G (p.Ter2565Gly)
c.7861T>G (p.Ter2621Gly)
16g.89268480A>GCA397144890ANKRD11c.7990T>C (p.Ter2664Arg)
c.*7793T>C (n.*7793T>C)
c.1264T>C (p.Ter422Arg)
c.7888T>C (p.Ter2630Arg)
c.7693T>C (p.Ter2565Arg)
c.7861T>C (p.Ter2621Arg)
16g.89268480A>TCA397144891ANKRD11c.7990T>A (p.Ter2664Arg)
c.*7793T>A (n.*7793T>A)
c.1264T>A (p.Ter422Arg)
c.7888T>A (p.Ter2630Arg)
c.7693T>A (p.Ter2565Arg)
c.7861T>A (p.Ter2621Arg)
16g.89268481T>ACA497165558ANKRD11c.7989A>T (p.Ala2663=)
c.*7792A>T (n.*7792A>T)
c.1263A>T (p.Ala421=)
c.7887A>T (p.Ala2629=)
c.7692A>T (p.Ala2564=)
c.7860A>T (p.Ala2620=)
16g.89268481T>CCA497165556ANKRD11c.7989A>G (p.Ala2663=)
c.*7792A>G (n.*7792A>G)
c.1263A>G (p.Ala421=)
c.7887A>G (p.Ala2629=)
c.7692A>G (p.Ala2564=)
c.7860A>G (p.Ala2620=)
dbSNP
16g.89268481T>GCA497165557ANKRD11c.7989A>C (p.Ala2663=)
c.*7792A>C (n.*7792A>C)
c.1263A>C (p.Ala421=)
c.7887A>C (p.Ala2629=)
c.7692A>C (p.Ala2564=)
c.7860A>C (p.Ala2620=)
16g.89268481T=CA2241594763ANKRD11c.7989A= (p.Ala2663=)
c.*7792A= (n.*7792A=)
c.1263A= (p.Ala421=)
c.7887A= (p.Ala2629=)
c.7692A= (p.Ala2564=)
c.7860A= (p.Ala2620=)
16g.89268482G>ACA397144892ANKRD11c.7988C>T (p.Ala2663Val)
c.*7791C>T (n.*7791C>T)
c.1262C>T (p.Ala421Val)
c.7886C>T (p.Ala2629Val)
c.7691C>T (p.Ala2564Val)
c.7859C>T (p.Ala2620Val)
gnomAD v4
16g.89268482G>CCA397144893ANKRD11c.7988C>G (p.Ala2663Gly)
c.*7791C>G (n.*7791C>G)
c.1262C>G (p.Ala421Gly)
c.7886C>G (p.Ala2629Gly)
c.7691C>G (p.Ala2564Gly)
c.7859C>G (p.Ala2620Gly)
16g.89268482G>TCA397144894ANKRD11c.7988C>A (p.Ala2663Glu)
c.*7791C>A (n.*7791C>A)
c.1262C>A (p.Ala421Glu)
c.7886C>A (p.Ala2629Glu)
c.7691C>A (p.Ala2564Glu)
c.7859C>A (p.Ala2620Glu)
gnomAD v4
16g.89268483C>ACA397144895ANKRD11c.7987G>T (p.Ala2663Ser)
c.*7790G>T (n.*7790G>T)
c.1261G>T (p.Ala421Ser)
c.7885G>T (p.Ala2629Ser)
c.7690G>T (p.Ala2564Ser)
c.7858G>T (p.Ala2620Ser)
gnomAD v4
16g.89268483C>GCA397144896ANKRD11c.7987G>C (p.Ala2663Pro)
c.*7790G>C (n.*7790G>C)
c.1261G>C (p.Ala421Pro)
c.7885G>C (p.Ala2629Pro)
c.7690G>C (p.Ala2564Pro)
c.7858G>C (p.Ala2620Pro)
16g.89268483C>TCA397144897ANKRD11c.7987G>A (p.Ala2663Thr)
c.*7790G>A (n.*7790G>A)
c.1261G>A (p.Ala421Thr)
c.7885G>A (p.Ala2629Thr)
c.7690G>A (p.Ala2564Thr)
c.7858G>A (p.Ala2620Thr)
gnomAD v4
16g.89268484C>ACA497165559ANKRD11c.7986G>T (p.Pro2662=)
c.*7789G>T (n.*7789G>T)
c.1260G>T (p.Pro420=)
c.7884G>T (p.Pro2628=)
c.7689G>T (p.Pro2563=)
c.7857G>T (p.Pro2619=)
16g.89268484C=CA2241594764ANKRD11c.7986G= (p.Pro2662=)
c.*7789G= (n.*7789G=)
c.1260G= (p.Pro420=)
c.7884G= (p.Pro2628=)
c.7689G= (p.Pro2563=)
c.7857G= (p.Pro2619=)
16g.89268484C>GCA497165560ANKRD11c.7986G>C (p.Pro2662=)
c.*7789G>C (n.*7789G>C)
c.1260G>C (p.Pro420=)
c.7884G>C (p.Pro2628=)
c.7689G>C (p.Pro2563=)
c.7857G>C (p.Pro2619=)
16g.89268484C>TCA8240969ANKRD11c.7986G>A (p.Pro2662=)
c.*7789G>A (n.*7789G>A)
c.1260G>A (p.Pro420=)
c.7884G>A (p.Pro2628=)
c.7689G>A (p.Pro2563=)
c.7857G>A (p.Pro2619=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89268485G>ACA397144899ANKRD11c.7985C>T (p.Pro2662Leu)
c.*7788C>T (n.*7788C>T)
c.1259C>T (p.Pro420Leu)
c.7883C>T (p.Pro2628Leu)
c.7688C>T (p.Pro2563Leu)
c.7856C>T (p.Pro2619Leu)
16g.89268485G>CCA397144900ANKRD11c.7985C>G (p.Pro2662Arg)
c.*7788C>G (n.*7788C>G)
c.1259C>G (p.Pro420Arg)
c.7883C>G (p.Pro2628Arg)
c.7688C>G (p.Pro2563Arg)
c.7856C>G (p.Pro2619Arg)
16g.89268485G>TCA397144898ANKRD11c.7985C>A (p.Pro2662Gln)
c.*7788C>A (n.*7788C>A)
c.1259C>A (p.Pro420Gln)
c.7883C>A (p.Pro2628Gln)
c.7688C>A (p.Pro2563Gln)
c.7856C>A (p.Pro2619Gln)
gnomAD v4
16g.89268486G>ACA397144901ANKRD11c.7984C>T (p.Pro2662Ser)
c.*7787C>T (n.*7787C>T)
c.1258C>T (p.Pro420Ser)
c.7882C>T (p.Pro2628Ser)
c.7687C>T (p.Pro2563Ser)
c.7855C>T (p.Pro2619Ser)
16g.89268486G>CCA397144902ANKRD11c.7984C>G (p.Pro2662Ala)
c.*7787C>G (n.*7787C>G)
c.1258C>G (p.Pro420Ala)
c.7882C>G (p.Pro2628Ala)
c.7687C>G (p.Pro2563Ala)
c.7855C>G (p.Pro2619Ala)
16g.89268486G>TCA397144903ANKRD11c.7984C>A (p.Pro2662Thr)
c.*7787C>A (n.*7787C>A)
c.1258C>A (p.Pro420Thr)
c.7882C>A (p.Pro2628Thr)
c.7687C>A (p.Pro2563Thr)
c.7855C>A (p.Pro2619Thr)
gnomAD v4
16g.89268487C>ACA397144904ANKRD11c.7983G>T (p.Leu2661Phe)
c.*7786G>T (n.*7786G>T)
c.1257G>T (p.Leu419Phe)
c.7881G>T (p.Leu2627Phe)
c.7686G>T (p.Leu2562Phe)
c.7854G>T (p.Leu2618Phe)
gnomAD v4
16g.89268487C=CA2241594765ANKRD11c.7983G= (p.Leu2661=)
c.*7786G= (n.*7786G=)
c.1257G= (p.Leu419=)
c.7881G= (p.Leu2627=)
c.7686G= (p.Leu2562=)
c.7854G= (p.Leu2618=)
16g.89268487C>GCA397144905ANKRD11c.7983G>C (p.Leu2661Phe)
c.*7786G>C (n.*7786G>C)
c.1257G>C (p.Leu419Phe)
c.7881G>C (p.Leu2627Phe)
c.7686G>C (p.Leu2562Phe)
c.7854G>C (p.Leu2618Phe)
gnomAD v4
16g.89268487C>TCA497165561ANKRD11c.7983G>A (p.Leu2661=)
c.*7786G>A (n.*7786G>A)
c.1257G>A (p.Leu419=)
c.7881G>A (p.Leu2627=)
c.7686G>A (p.Leu2562=)
c.7854G>A (p.Leu2618=)
dbSNP
16g.89268488A>CCA397144906ANKRD11c.7982T>G (p.Leu2661Trp)
c.*7785T>G (n.*7785T>G)
c.1256T>G (p.Leu419Trp)
c.7880T>G (p.Leu2627Trp)
c.7685T>G (p.Leu2562Trp)
c.7853T>G (p.Leu2618Trp)
16g.89268488A>GCA397144907ANKRD11c.7982T>C (p.Leu2661Ser)
c.*7785T>C (n.*7785T>C)
c.1256T>C (p.Leu419Ser)
c.7880T>C (p.Leu2627Ser)
c.7685T>C (p.Leu2562Ser)
c.7853T>C (p.Leu2618Ser)
16g.89268488A>TCA397144908ANKRD11c.7982T>A (p.Leu2661Ter)
c.*7785T>A (n.*7785T>A)
c.1256T>A (p.Leu419Ter)
c.7880T>A (p.Leu2627Ter)
c.7685T>A (p.Leu2562Ter)
c.7853T>A (p.Leu2618Ter)
16g.89268489A>CCA397144909ANKRD11c.7981T>G (p.Leu2661Val)
c.*7784T>G (n.*7784T>G)
c.1255T>G (p.Leu419Val)
c.7879T>G (p.Leu2627Val)
c.7684T>G (p.Leu2562Val)
c.7852T>G (p.Leu2618Val)
16g.89268489A>GCA497165562ANKRD11c.7981T>C (p.Leu2661=)
c.*7784T>C (n.*7784T>C)
c.1255T>C (p.Leu419=)
c.7879T>C (p.Leu2627=)
c.7684T>C (p.Leu2562=)
c.7852T>C (p.Leu2618=)
gnomAD v4
16g.89268489A>TCA397144910ANKRD11c.7981T>A (p.Leu2661Met)
c.*7784T>A (n.*7784T>A)
c.1255T>A (p.Leu419Met)
c.7879T>A (p.Leu2627Met)
c.7684T>A (p.Leu2562Met)
c.7852T>A (p.Leu2618Met)
16g.89268490C>ACA397144911ANKRD11c.7980G>T (p.Leu2660Phe)
c.*7783G>T (n.*7783G>T)
c.1254G>T (p.Leu418Phe)
c.7878G>T (p.Leu2626Phe)
c.7683G>T (p.Leu2561Phe)
c.7851G>T (p.Leu2617Phe)
16g.89268490C>GCA397144912ANKRD11c.7980G>C (p.Leu2660Phe)
c.*7783G>C (n.*7783G>C)
c.1254G>C (p.Leu418Phe)
c.7878G>C (p.Leu2626Phe)
c.7683G>C (p.Leu2561Phe)
c.7851G>C (p.Leu2617Phe)
16g.89268490C>TCA497165563ANKRD11c.7980G>A (p.Leu2660=)
c.*7783G>A (n.*7783G>A)
c.1254G>A (p.Leu418=)
c.7878G>A (p.Leu2626=)
c.7683G>A (p.Leu2561=)
c.7851G>A (p.Leu2617=)
16g.89268491A>CCA397144914ANKRD11c.7979T>G (p.Leu2660Trp)
c.*7782T>G (n.*7782T>G)
c.1253T>G (p.Leu418Trp)
c.7877T>G (p.Leu2626Trp)
c.7682T>G (p.Leu2561Trp)
c.7850T>G (p.Leu2617Trp)
16g.89268491A>GCA397144915ANKRD11c.7979T>C (p.Leu2660Ser)
c.*7782T>C (n.*7782T>C)
c.1253T>C (p.Leu418Ser)
c.7877T>C (p.Leu2626Ser)
c.7682T>C (p.Leu2561Ser)
c.7850T>C (p.Leu2617Ser)
ClinVar
16g.89268491A>TCA397144913ANKRD11c.7979T>A (p.Leu2660Ter)
c.*7782T>A (n.*7782T>A)
c.1253T>A (p.Leu418Ter)
c.7877T>A (p.Leu2626Ter)
c.7682T>A (p.Leu2561Ter)
c.7850T>A (p.Leu2617Ter)
16g.89268492A>CCA397144916ANKRD11c.7978T>G (p.Leu2660Val)
c.*7781T>G (n.*7781T>G)
c.1252T>G (p.Leu418Val)
c.7876T>G (p.Leu2626Val)
c.7681T>G (p.Leu2561Val)
c.7849T>G (p.Leu2617Val)
16g.89268492A>GCA497165564ANKRD11c.7978T>C (p.Leu2660=)
c.*7781T>C (n.*7781T>C)
c.1252T>C (p.Leu418=)
c.7876T>C (p.Leu2626=)
c.7681T>C (p.Leu2561=)
c.7849T>C (p.Leu2617=)
gnomAD v4
16g.89268492A>TCA397144917ANKRD11c.7978T>A (p.Leu2660Met)
c.*7781T>A (n.*7781T>A)
c.1252T>A (p.Leu418Met)
c.7876T>A (p.Leu2626Met)
c.7681T>A (p.Leu2561Met)
c.7849T>A (p.Leu2617Met)
16g.89268493T>ACA8240970ANKRD11c.7977A>T (p.Val2659=)
c.*7780A>T (n.*7780A>T)
c.1251A>T (p.Val417=)
c.7875A>T (p.Val2625=)
c.7680A>T (p.Val2560=)
c.7848A>T (p.Val2616=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89268493T>CCA497165565ANKRD11c.7977A>G (p.Val2659=)
c.*7780A>G (n.*7780A>G)
c.1251A>G (p.Val417=)
c.7875A>G (p.Val2625=)
c.7680A>G (p.Val2560=)
c.7848A>G (p.Val2616=)
gnomAD v4
16g.89268493T>GCA497165566ANKRD11c.7977A>C (p.Val2659=)
c.*7780A>C (n.*7780A>C)
c.1251A>C (p.Val417=)
c.7875A>C (p.Val2625=)
c.7680A>C (p.Val2560=)
c.7848A>C (p.Val2616=)
16g.89268493T=CA2241594766ANKRD11c.7977A= (p.Val2659=)
c.*7780A= (n.*7780A=)
c.1251A= (p.Val417=)
c.7875A= (p.Val2625=)
c.7680A= (p.Val2560=)
c.7848A= (p.Val2616=)
16g.89268494A>CCA397144918ANKRD11c.7976T>G (p.Val2659Gly)
c.*7779T>G (n.*7779T>G)
c.1250T>G (p.Val417Gly)
c.7874T>G (p.Val2625Gly)
c.7679T>G (p.Val2560Gly)
c.7847T>G (p.Val2616Gly)
16g.89268494A>GCA397144919ANKRD11c.7976T>C (p.Val2659Ala)
c.*7779T>C (n.*7779T>C)
c.1250T>C (p.Val417Ala)
c.7874T>C (p.Val2625Ala)
c.7679T>C (p.Val2560Ala)
c.7847T>C (p.Val2616Ala)
16g.89268494A>TCA397144920ANKRD11c.7976T>A (p.Val2659Glu)
c.*7779T>A (n.*7779T>A)
c.1250T>A (p.Val417Glu)
c.7874T>A (p.Val2625Glu)
c.7679T>A (p.Val2560Glu)
c.7847T>A (p.Val2616Glu)
gnomAD v4
16g.89268495C>ACA397144923ANKRD11c.7975G>T (p.Val2659Leu)
c.*7778G>T (n.*7778G>T)
c.1249G>T (p.Val417Leu)
c.7873G>T (p.Val2625Leu)
c.7678G>T (p.Val2560Leu)
c.7846G>T (p.Val2616Leu)
16g.89268495C=CA2241594767ANKRD11c.7975G= (p.Val2659=)
c.*7778G= (n.*7778G=)
c.1249G= (p.Val417=)
c.7873G= (p.Val2625=)
c.7678G= (p.Val2560=)
c.7846G= (p.Val2616=)
16g.89268495C>GCA397144921ANKRD11c.7975G>C (p.Val2659Leu)
c.*7778G>C (n.*7778G>C)
c.1249G>C (p.Val417Leu)
c.7873G>C (p.Val2625Leu)
c.7678G>C (p.Val2560Leu)
c.7846G>C (p.Val2616Leu)
16g.89268495C>TCA397144922ANKRD11c.7975G>A (p.Val2659Ile)
c.*7778G>A (n.*7778G>A)
c.1249G>A (p.Val417Ile)
c.7873G>A (p.Val2625Ile)
c.7678G>A (p.Val2560Ile)
c.7846G>A (p.Val2616Ile)
dbSNP gnomAD v4
16g.89268496A>CCA397144924ANKRD11c.7974T>G (p.Phe2658Leu)
c.*7777T>G (n.*7777T>G)
c.1248T>G (p.Phe416Leu)
c.7872T>G (p.Phe2624Leu)
c.7677T>G (p.Phe2559Leu)
c.7845T>G (p.Phe2615Leu)
16g.89268496A>GCA497165567ANKRD11c.7974T>C (p.Phe2658=)
c.*7777T>C (n.*7777T>C)
c.1248T>C (p.Phe416=)
c.7872T>C (p.Phe2624=)
c.7677T>C (p.Phe2559=)
c.7845T>C (p.Phe2615=)
16g.89268496A>TCA397144925ANKRD11c.7974T>A (p.Phe2658Leu)
c.*7777T>A (n.*7777T>A)
c.1248T>A (p.Phe416Leu)
c.7872T>A (p.Phe2624Leu)
c.7677T>A (p.Phe2559Leu)
c.7845T>A (p.Phe2615Leu)
gnomAD v4
16g.89268497A>CCA397144926ANKRD11c.7973T>G (p.Phe2658Cys)
c.*7776T>G (n.*7776T>G)
c.1247T>G (p.Phe416Cys)
c.7871T>G (p.Phe2624Cys)
c.7676T>G (p.Phe2559Cys)
c.7844T>G (p.Phe2615Cys)
16g.89268497A>GCA397144927ANKRD11c.7973T>C (p.Phe2658Ser)
c.*7776T>C (n.*7776T>C)
c.1247T>C (p.Phe416Ser)
c.7871T>C (p.Phe2624Ser)
c.7676T>C (p.Phe2559Ser)
c.7844T>C (p.Phe2615Ser)
16g.89268497A>TCA397144928ANKRD11c.7973T>A (p.Phe2658Tyr)
c.*7776T>A (n.*7776T>A)
c.1247T>A (p.Phe416Tyr)
c.7871T>A (p.Phe2624Tyr)
c.7676T>A (p.Phe2559Tyr)
c.7844T>A (p.Phe2615Tyr)
16g.89268498A>CCA397144929ANKRD11c.7972T>G (p.Phe2658Val)
c.*7775T>G (n.*7775T>G)
c.1246T>G (p.Phe416Val)
c.7870T>G (p.Phe2624Val)
c.7675T>G (p.Phe2559Val)
c.7843T>G (p.Phe2615Val)
16g.89268498A>GCA397144931ANKRD11c.7972T>C (p.Phe2658Leu)
c.*7775T>C (n.*7775T>C)
c.1246T>C (p.Phe416Leu)
c.7870T>C (p.Phe2624Leu)
c.7675T>C (p.Phe2559Leu)
c.7843T>C (p.Phe2615Leu)
gnomAD v4
16g.89268498A>TCA397144930ANKRD11c.7972T>A (p.Phe2658Ile)
c.*7775T>A (n.*7775T>A)
c.1246T>A (p.Phe416Ile)
c.7870T>A (p.Phe2624Ile)
c.7675T>A (p.Phe2559Ile)
c.7843T>A (p.Phe2615Ile)
16g.89268499G>ACA497165568ANKRD11c.7971C>T (p.Asp2657=)
c.*7774C>T (n.*7774C>T)
c.1245C>T (p.Asp415=)
c.7869C>T (p.Asp2623=)
c.7674C>T (p.Asp2558=)
c.7842C>T (p.Asp2614=)
16g.89268499G>CCA397144932ANKRD11c.7971C>G (p.Asp2657Glu)
c.*7774C>G (n.*7774C>G)
c.1245C>G (p.Asp415Glu)
c.7869C>G (p.Asp2623Glu)
c.7674C>G (p.Asp2558Glu)
c.7842C>G (p.Asp2614Glu)
gnomAD v4
16g.89268499G>TCA397144933ANKRD11c.7971C>A (p.Asp2657Glu)
c.*7774C>A (n.*7774C>A)
c.1245C>A (p.Asp415Glu)
c.7869C>A (p.Asp2623Glu)
c.7674C>A (p.Asp2558Glu)
c.7842C>A (p.Asp2614Glu)
16g.89268504_89268506delCA2634939848ANKRD11c.7969_7971del (p.Asp2657del)
c.*7772_*7774del (n.*7772_*7774del)
c.1243_1245del (p.Asp415del)
c.7867_7869del (p.Asp2623del)
c.7672_7674del (p.Asp2558del)
c.7840_7842del (p.Asp2614del)
gnomAD v4
16g.89268500T>ACA397144934ANKRD11c.7970A>T (p.Asp2657Val)
c.*7773A>T (n.*7773A>T)
c.1244A>T (p.Asp415Val)
c.7868A>T (p.Asp2623Val)
c.7673A>T (p.Asp2558Val)
c.7841A>T (p.Asp2614Val)
16g.89268500T>CCA397144936ANKRD11c.7970A>G (p.Asp2657Gly)
c.*7773A>G (n.*7773A>G)
c.1244A>G (p.Asp415Gly)
c.7868A>G (p.Asp2623Gly)
c.7673A>G (p.Asp2558Gly)
c.7841A>G (p.Asp2614Gly)
16g.89268500T>GCA397144935ANKRD11c.7970A>C (p.Asp2657Ala)
c.*7773A>C (n.*7773A>C)
c.1244A>C (p.Asp415Ala)
c.7868A>C (p.Asp2623Ala)
c.7673A>C (p.Asp2558Ala)
c.7841A>C (p.Asp2614Ala)
16g.89268501C>ACA397144937ANKRD11c.7969G>T (p.Asp2657Tyr)
c.*7772G>T (n.*7772G>T)
c.1243G>T (p.Asp415Tyr)
c.7867G>T (p.Asp2623Tyr)
c.7672G>T (p.Asp2558Tyr)
c.7840G>T (p.Asp2614Tyr)
gnomAD v4
16g.89268501C=CA2241594768ANKRD11c.7969G= (p.Asp2657=)
c.*7772G= (n.*7772G=)
c.1243G= (p.Asp415=)
c.7867G= (p.Asp2623=)
c.7672G= (p.Asp2558=)
c.7840G= (p.Asp2614=)
16g.89268501C>GCA397144938ANKRD11c.7969G>C (p.Asp2657His)
c.*7772G>C (n.*7772G>C)
c.1243G>C (p.Asp415His)
c.7867G>C (p.Asp2623His)
c.7672G>C (p.Asp2558His)
c.7840G>C (p.Asp2614His)
16g.89268501C>TCA397144939ANKRD11c.7969G>A (p.Asp2657Asn)
c.*7772G>A (n.*7772G>A)
c.1243G>A (p.Asp415Asn)
c.7867G>A (p.Asp2623Asn)
c.7672G>A (p.Asp2558Asn)
c.7840G>A (p.Asp2614Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89268502G>ACA8240971ANKRD11c.7968C>T (p.Asp2656=)
c.*7771C>T (n.*7771C>T)
c.1242C>T (p.Asp414=)
c.7866C>T (p.Asp2622=)
c.7671C>T (p.Asp2557=)
c.7839C>T (p.Asp2613=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89268502G>CCA397144940ANKRD11c.7968C>G (p.Asp2656Glu)
c.*7771C>G (n.*7771C>G)
c.1242C>G (p.Asp414Glu)
c.7866C>G (p.Asp2622Glu)
c.7671C>G (p.Asp2557Glu)
c.7839C>G (p.Asp2613Glu)
16g.89268502G=CA2241594769ANKRD11c.7968C= (p.Asp2656=)
c.*7771C= (n.*7771C=)
c.1242C= (p.Asp414=)
c.7866C= (p.Asp2622=)
c.7671C= (p.Asp2557=)
c.7839C= (p.Asp2613=)
16g.89268502G>TCA286503914ANKRD11c.7968C>A (p.Asp2656Glu)
c.*7771C>A (n.*7771C>A)
c.1242C>A (p.Asp414Glu)
c.7866C>A (p.Asp2622Glu)
c.7671C>A (p.Asp2557Glu)
c.7839C>A (p.Asp2613Glu)
dbSNP gnomAD v3 gnomAD v4
16g.89268503T>ACA397144943ANKRD11c.7967A>T (p.Asp2656Val)
c.*7770A>T (n.*7770A>T)
c.1241A>T (p.Asp414Val)
c.7865A>T (p.Asp2622Val)
c.7670A>T (p.Asp2557Val)
c.7838A>T (p.Asp2613Val)
16g.89268503T>CCA397144941ANKRD11c.7967A>G (p.Asp2656Gly)
c.*7770A>G (n.*7770A>G)
c.1241A>G (p.Asp414Gly)
c.7865A>G (p.Asp2622Gly)
c.7670A>G (p.Asp2557Gly)
c.7838A>G (p.Asp2613Gly)
16g.89268503T>GCA397144942ANKRD11c.7967A>C (p.Asp2656Ala)
c.*7770A>C (n.*7770A>C)
c.1241A>C (p.Asp414Ala)
c.7865A>C (p.Asp2622Ala)
c.7670A>C (p.Asp2557Ala)
c.7838A>C (p.Asp2613Ala)
16g.89268504C>ACA397144944ANKRD11c.7966G>T (p.Asp2656Tyr)
c.*7769G>T (n.*7769G>T)
c.1240G>T (p.Asp414Tyr)
c.7864G>T (p.Asp2622Tyr)
c.7669G>T (p.Asp2557Tyr)
c.7837G>T (p.Asp2613Tyr)
16g.89268504C>GCA397144945ANKRD11c.7966G>C (p.Asp2656His)
c.*7769G>C (n.*7769G>C)
c.1240G>C (p.Asp414His)
c.7864G>C (p.Asp2622His)
c.7669G>C (p.Asp2557His)
c.7837G>C (p.Asp2613His)
16g.89268504C>TCA397144946ANKRD11c.7966G>A (p.Asp2656Asn)
c.*7769G>A (n.*7769G>A)
c.1240G>A (p.Asp414Asn)
c.7864G>A (p.Asp2622Asn)
c.7669G>A (p.Asp2557Asn)
c.7837G>A (p.Asp2613Asn)
gnomAD v4
16g.89268505G>ACA286503915ANKRD11c.7965C>T (p.Asn2655=)
c.*7768C>T (n.*7768C>T)
c.1239C>T (p.Asn413=)
c.7863C>T (p.Asn2621=)
c.7668C>T (p.Asn2556=)
c.7836C>T (p.Asn2612=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89268505G>CCA397144947ANKRD11c.7965C>G (p.Asn2655Lys)
c.*7768C>G (n.*7768C>G)
c.1239C>G (p.Asn413Lys)
c.7863C>G (p.Asn2621Lys)
c.7668C>G (p.Asn2556Lys)
c.7836C>G (p.Asn2612Lys)
gnomAD v4
16g.89268505G=CA2241594770ANKRD11c.7965C= (p.Asn2655=)
c.*7768C= (n.*7768C=)
c.1239C= (p.Asn413=)
c.7863C= (p.Asn2621=)
c.7668C= (p.Asn2556=)
c.7836C= (p.Asn2612=)
16g.89268505G>TCA397144948ANKRD11c.7965C>A (p.Asn2655Lys)
c.*7768C>A (n.*7768C>A)
c.1239C>A (p.Asn413Lys)
c.7863C>A (p.Asn2621Lys)
c.7668C>A (p.Asn2556Lys)
c.7836C>A (p.Asn2612Lys)
16g.89268506T>ACA397144951ANKRD11c.7964A>T (p.Asn2655Ile)
c.*7767A>T (n.*7767A>T)
c.1238A>T (p.Asn413Ile)
c.7862A>T (p.Asn2621Ile)
c.7667A>T (p.Asn2556Ile)
c.7835A>T (p.Asn2612Ile)
16g.89268506T>CCA397144949ANKRD11c.7964A>G (p.Asn2655Ser)
c.*7767A>G (n.*7767A>G)
c.1238A>G (p.Asn413Ser)
c.7862A>G (p.Asn2621Ser)
c.7667A>G (p.Asn2556Ser)
c.7835A>G (p.Asn2612Ser)
gnomAD v4
16g.89268506T>GCA397144950ANKRD11c.7964A>C (p.Asn2655Thr)
c.*7767A>C (n.*7767A>C)
c.1238A>C (p.Asn413Thr)
c.7862A>C (p.Asn2621Thr)
c.7667A>C (p.Asn2556Thr)
c.7835A>C (p.Asn2612Thr)
16g.89268507T>ACA397144952ANKRD11c.7963A>T (p.Asn2655Tyr)
c.*7766A>T (n.*7766A>T)
c.1237A>T (p.Asn413Tyr)
c.7861A>T (p.Asn2621Tyr)
c.7666A>T (p.Asn2556Tyr)
c.7834A>T (p.Asn2612Tyr)
16g.89268507T>CCA397144953ANKRD11c.7963A>G (p.Asn2655Asp)
c.*7766A>G (n.*7766A>G)
c.1237A>G (p.Asn413Asp)
c.7861A>G (p.Asn2621Asp)
c.7666A>G (p.Asn2556Asp)
c.7834A>G (p.Asn2612Asp)
dbSNP
16g.89268507T>GCA397144954ANKRD11c.7963A>C (p.Asn2655His)
c.*7766A>C (n.*7766A>C)
c.1237A>C (p.Asn413His)
c.7861A>C (p.Asn2621His)
c.7666A>C (p.Asn2556His)
c.7834A>C (p.Asn2612His)
16g.89268507T=CA2241594771ANKRD11c.7963A= (p.Asn2655=)
c.*7766A= (n.*7766A=)
c.1237A= (p.Asn413=)
c.7861A= (p.Asn2621=)
c.7666A= (p.Asn2556=)
c.7834A= (p.Asn2612=)
16g.89268508G>ACA497165569ANKRD11c.7962C>T (p.Val2654=)
c.*7765C>T (n.*7765C>T)
c.1236C>T (p.Val412=)
c.7860C>T (p.Val2620=)
c.7665C>T (p.Val2555=)
c.7833C>T (p.Val2611=)
16g.89268508G>CCA497165571ANKRD11c.7962C>G (p.Val2654=)
c.*7765C>G (n.*7765C>G)
c.1236C>G (p.Val412=)
c.7860C>G (p.Val2620=)
c.7665C>G (p.Val2555=)
c.7833C>G (p.Val2611=)
16g.89268508G>TCA497165570ANKRD11c.7962C>A (p.Val2654=)
c.*7765C>A (n.*7765C>A)
c.1236C>A (p.Val412=)
c.7860C>A (p.Val2620=)
c.7665C>A (p.Val2555=)
c.7833C>A (p.Val2611=)
gnomAD v4
16g.89268509A>CCA397144955ANKRD11c.7961T>G (p.Val2654Gly)
c.*7764T>G (n.*7764T>G)
c.1235T>G (p.Val412Gly)
c.7859T>G (p.Val2620Gly)
c.7664T>G (p.Val2555Gly)
c.7832T>G (p.Val2611Gly)
16g.89268509A>GCA397144956ANKRD11c.7961T>C (p.Val2654Ala)
c.*7764T>C (n.*7764T>C)
c.1235T>C (p.Val412Ala)
c.7859T>C (p.Val2620Ala)
c.7664T>C (p.Val2555Ala)
c.7832T>C (p.Val2611Ala)
16g.89268509A>TCA397144957ANKRD11c.7961T>A (p.Val2654Asp)
c.*7764T>A (n.*7764T>A)
c.1235T>A (p.Val412Asp)
c.7859T>A (p.Val2620Asp)
c.7664T>A (p.Val2555Asp)
c.7832T>A (p.Val2611Asp)
16g.89268510C>ACA397144958ANKRD11c.7960G>T (p.Val2654Phe)
c.*7763G>T (n.*7763G>T)
c.1234G>T (p.Val412Phe)
c.7858G>T (p.Val2620Phe)
c.7663G>T (p.Val2555Phe)
c.7831G>T (p.Val2611Phe)
16g.89268510C=CA2241594772ANKRD11c.7960G= (p.Val2654=)
c.*7763G= (n.*7763G=)
c.1234G= (p.Val412=)
c.7858G= (p.Val2620=)
c.7663G= (p.Val2555=)
c.7831G= (p.Val2611=)
16g.89268510C>GCA397144959ANKRD11c.7960G>C (p.Val2654Leu)
c.*7763G>C (n.*7763G>C)
c.1234G>C (p.Val412Leu)
c.7858G>C (p.Val2620Leu)
c.7663G>C (p.Val2555Leu)
c.7831G>C (p.Val2611Leu)
16g.89268510C>TCA397144960ANKRD11c.7960G>A (p.Val2654Ile)
c.*7763G>A (n.*7763G>A)
c.1234G>A (p.Val412Ile)
c.7858G>A (p.Val2620Ile)
c.7663G>A (p.Val2555Ile)
c.7831G>A (p.Val2611Ile)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.89268511G>ACA286503916ANKRD11c.7959C>T (p.Asp2653=)
c.*7762C>T (n.*7762C>T)
c.1233C>T (p.Asp411=)
c.7857C>T (p.Asp2619=)
c.7662C>T (p.Asp2554=)
c.7830C>T (p.Asp2610=)
dbSNP gnomAD v3 gnomAD v4
16g.89268511G>CCA397144961ANKRD11c.7959C>G (p.Asp2653Glu)
c.*7762C>G (n.*7762C>G)
c.1233C>G (p.Asp411Glu)
c.7857C>G (p.Asp2619Glu)
c.7662C>G (p.Asp2554Glu)
c.7830C>G (p.Asp2610Glu)
16g.89268511G=CA2241594773ANKRD11c.7959C= (p.Asp2653=)
c.*7762C= (n.*7762C=)
c.1233C= (p.Asp411=)
c.7857C= (p.Asp2619=)
c.7662C= (p.Asp2554=)
c.7830C= (p.Asp2610=)
16g.89268511G>TCA397144962ANKRD11c.7959C>A (p.Asp2653Glu)
c.*7762C>A (n.*7762C>A)
c.1233C>A (p.Asp411Glu)
c.7857C>A (p.Asp2619Glu)
c.7662C>A (p.Asp2554Glu)
c.7830C>A (p.Asp2610Glu)
16g.89268512T>ACA397144963ANKRD11c.7958A>T (p.Asp2653Val)
c.*7761A>T (n.*7761A>T)
c.1232A>T (p.Asp411Val)
c.7856A>T (p.Asp2619Val)
c.7661A>T (p.Asp2554Val)
c.7829A>T (p.Asp2610Val)
16g.89268512T>CCA397144965ANKRD11c.7958A>G (p.Asp2653Gly)
c.*7761A>G (n.*7761A>G)
c.1232A>G (p.Asp411Gly)
c.7856A>G (p.Asp2619Gly)
c.7661A>G (p.Asp2554Gly)
c.7829A>G (p.Asp2610Gly)
16g.89268512T>GCA397144964ANKRD11c.7958A>C (p.Asp2653Ala)
c.*7761A>C (n.*7761A>C)
c.1232A>C (p.Asp411Ala)
c.7856A>C (p.Asp2619Ala)
c.7661A>C (p.Asp2554Ala)
c.7829A>C (p.Asp2610Ala)
16g.89268513C>ACA397144966ANKRD11c.7957G>T (p.Asp2653Tyr)
c.*7760G>T (n.*7760G>T)
c.1231G>T (p.Asp411Tyr)
c.7855G>T (p.Asp2619Tyr)
c.7660G>T (p.Asp2554Tyr)
c.7828G>T (p.Asp2610Tyr)
16g.89268513C=CA2241594774ANKRD11c.7957G= (p.Asp2653=)
c.*7760G= (n.*7760G=)
c.1231G= (p.Asp411=)
c.7855G= (p.Asp2619=)
c.7660G= (p.Asp2554=)
c.7828G= (p.Asp2610=)
16g.89268513C>GCA286503917ANKRD11c.7957G>C (p.Asp2653His)
c.*7760G>C (n.*7760G>C)
c.1231G>C (p.Asp411His)
c.7855G>C (p.Asp2619His)
c.7660G>C (p.Asp2554His)
c.7828G>C (p.Asp2610His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89268513C>TCA397144967ANKRD11c.7957G>A (p.Asp2653Asn)
c.*7760G>A (n.*7760G>A)
c.1231G>A (p.Asp411Asn)
c.7855G>A (p.Asp2619Asn)
c.7660G>A (p.Asp2554Asn)
c.7828G>A (p.Asp2610Asn)
ClinVar gnomAD v4
16g.89268514G>ACA8240972ANKRD11c.7956C>T (p.Val2652=)
c.*7759C>T (n.*7759C>T)
c.1230C>T (p.Val410=)
c.7854C>T (p.Val2618=)
c.7659C>T (p.Val2553=)
c.7827C>T (p.Val2609=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89268514G>CCA497165572ANKRD11c.7956C>G (p.Val2652=)
c.*7759C>G (n.*7759C>G)
c.1230C>G (p.Val410=)
c.7854C>G (p.Val2618=)
c.7659C>G (p.Val2553=)
c.7827C>G (p.Val2609=)
16g.89268514G=CA2241594775ANKRD11c.7956C= (p.Val2652=)
c.*7759C= (n.*7759C=)
c.1230C= (p.Val410=)
c.7854C= (p.Val2618=)
c.7659C= (p.Val2553=)
c.7827C= (p.Val2609=)
16g.89268514G>TCA497165573ANKRD11c.7956C>A (p.Val2652=)
c.*7759C>A (n.*7759C>A)
c.1230C>A (p.Val410=)
c.7854C>A (p.Val2618=)
c.7659C>A (p.Val2553=)
c.7827C>A (p.Val2609=)
gnomAD v4
16g.89268515A>CCA397144968ANKRD11c.7955T>G (p.Val2652Gly)
c.*7758T>G (n.*7758T>G)
c.1229T>G (p.Val410Gly)
c.7853T>G (p.Val2618Gly)
c.7658T>G (p.Val2553Gly)
c.7826T>G (p.Val2609Gly)
16g.89268515A>GCA397144969ANKRD11c.7955T>C (p.Val2652Ala)
c.*7758T>C (n.*7758T>C)
c.1229T>C (p.Val410Ala)
c.7853T>C (p.Val2618Ala)
c.7658T>C (p.Val2553Ala)
c.7826T>C (p.Val2609Ala)
16g.89268515A>TCA397144970ANKRD11c.7955T>A (p.Val2652Asp)
c.*7758T>A (n.*7758T>A)
c.1229T>A (p.Val410Asp)
c.7853T>A (p.Val2618Asp)
c.7658T>A (p.Val2553Asp)
c.7826T>A (p.Val2609Asp)
16g.89268516C>ACA397144971ANKRD11c.7954G>T (p.Val2652Phe)
c.*7757G>T (n.*7757G>T)
c.1228G>T (p.Val410Phe)
c.7852G>T (p.Val2618Phe)
c.7657G>T (p.Val2553Phe)
c.7825G>T (p.Val2609Phe)
16g.89268516C>GCA397144972ANKRD11c.7954G>C (p.Val2652Leu)
c.*7757G>C (n.*7757G>C)
c.1228G>C (p.Val410Leu)
c.7852G>C (p.Val2618Leu)
c.7657G>C (p.Val2553Leu)
c.7825G>C (p.Val2609Leu)
16g.89268516C>TCA397144973ANKRD11c.7954G>A (p.Val2652Ile)
c.*7757G>A (n.*7757G>A)
c.1228G>A (p.Val410Ile)
c.7852G>A (p.Val2618Ile)
c.7657G>A (p.Val2553Ile)
c.7825G>A (p.Val2609Ile)
16g.89268517C>ACA397144974ANKRD11c.7953G>T (p.Met2651Ile)
c.*7756G>T (n.*7756G>T)
c.1227G>T (p.Met409Ile)
c.7851G>T (p.Met2617Ile)
c.7656G>T (p.Met2552Ile)
c.7824G>T (p.Met2608Ile)
16g.89268517C>GCA397144975ANKRD11c.7953G>C (p.Met2651Ile)
c.*7756G>C (n.*7756G>C)
c.1227G>C (p.Met409Ile)
c.7851G>C (p.Met2617Ile)
c.7656G>C (p.Met2552Ile)
c.7824G>C (p.Met2608Ile)
16g.89268517C>TCA397144976ANKRD11c.7953G>A (p.Met2651Ile)
c.*7756G>A (n.*7756G>A)
c.1227G>A (p.Met409Ile)
c.7851G>A (p.Met2617Ile)
c.7656G>A (p.Met2552Ile)
c.7824G>A (p.Met2608Ile)
16g.89268518A=CA2241594776ANKRD11c.7952T= (p.Met2651=)
c.*7755T= (n.*7755T=)
c.1226T= (p.Met409=)
c.7850T= (p.Met2617=)
c.7655T= (p.Met2552=)
c.7823T= (p.Met2608=)
16g.89268518A>CCA397144977ANKRD11c.7952T>G (p.Met2651Arg)
c.*7755T>G (n.*7755T>G)
c.1226T>G (p.Met409Arg)
c.7850T>G (p.Met2617Arg)
c.7655T>G (p.Met2552Arg)
c.7823T>G (p.Met2608Arg)
16g.89268518A>GCA397144979ANKRD11c.7952T>C (p.Met2651Thr)
c.*7755T>C (n.*7755T>C)
c.1226T>C (p.Met409Thr)
c.7850T>C (p.Met2617Thr)
c.7655T>C (p.Met2552Thr)
c.7823T>C (p.Met2608Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89268518A>TCA397144978ANKRD11c.7952T>A (p.Met2651Lys)
c.*7755T>A (n.*7755T>A)
c.1226T>A (p.Met409Lys)
c.7850T>A (p.Met2617Lys)
c.7655T>A (p.Met2552Lys)
c.7823T>A (p.Met2608Lys)
16g.89268519T>ACA397144980ANKRD11c.7951A>T (p.Met2651Leu)
c.*7754A>T (n.*7754A>T)
c.1225A>T (p.Met409Leu)
c.7849A>T (p.Met2617Leu)
c.7654A>T (p.Met2552Leu)
c.7822A>T (p.Met2608Leu)
16g.89268519T>CCA397144981ANKRD11c.7951A>G (p.Met2651Val)
c.*7754A>G (n.*7754A>G)
c.1225A>G (p.Met409Val)
c.7849A>G (p.Met2617Val)
c.7654A>G (p.Met2552Val)
c.7822A>G (p.Met2608Val)
16g.89268519T>GCA397144982ANKRD11c.7951A>C (p.Met2651Leu)
c.*7754A>C (n.*7754A>C)
c.1225A>C (p.Met409Leu)
c.7849A>C (p.Met2617Leu)
c.7654A>C (p.Met2552Leu)
c.7822A>C (p.Met2608Leu)
16g.89268520G>ACA497165574ANKRD11c.7950C>T (p.Pro2650=)
c.*7753C>T (n.*7753C>T)
c.1224C>T (p.Pro408=)
c.7848C>T (p.Pro2616=)
c.7653C>T (p.Pro2551=)
c.7821C>T (p.Pro2607=)
gnomAD v4
16g.89268520G>CCA497165575ANKRD11c.7950C>G (p.Pro2650=)
c.*7753C>G (n.*7753C>G)
c.1224C>G (p.Pro408=)
c.7848C>G (p.Pro2616=)
c.7653C>G (p.Pro2551=)
c.7821C>G (p.Pro2607=)
16g.89268520G>TCA497165576ANKRD11c.7950C>A (p.Pro2650=)
c.*7753C>A (n.*7753C>A)
c.1224C>A (p.Pro408=)
c.7848C>A (p.Pro2616=)
c.7653C>A (p.Pro2551=)
c.7821C>A (p.Pro2607=)
16g.89268522delCA2576097058ANKRD11c.7950del (p.Met2651TrpfsTer?)
c.*7753del (n.*7753del)
c.1224del (p.Met409TrpfsTer?)
c.7848del (p.Met2617TrpfsTer?)
c.7653del (p.Met2552TrpfsTer?)
c.7821del (p.Met2608TrpfsTer?)
gnomAD v4
16g.89268521G>ACA397144983ANKRD11c.7949C>T (p.Pro2650Leu)
c.*7752C>T (n.*7752C>T)
c.1223C>T (p.Pro408Leu)
c.7847C>T (p.Pro2616Leu)
c.7652C>T (p.Pro2551Leu)
c.7820C>T (p.Pro2607Leu)
16g.89268521G>CCA397144984ANKRD11c.7949C>G (p.Pro2650Arg)
c.*7752C>G (n.*7752C>G)
c.1223C>G (p.Pro408Arg)
c.7847C>G (p.Pro2616Arg)
c.7652C>G (p.Pro2551Arg)
c.7820C>G (p.Pro2607Arg)
16g.89268521G>TCA397144985ANKRD11c.7949C>A (p.Pro2650His)
c.*7752C>A (n.*7752C>A)
c.1223C>A (p.Pro408His)
c.7847C>A (p.Pro2616His)
c.7652C>A (p.Pro2551His)
c.7820C>A (p.Pro2607His)
gnomAD v4
16g.89268522G>ACA397144986ANKRD11c.7948C>T (p.Pro2650Ser)
c.*7751C>T (n.*7751C>T)
c.1222C>T (p.Pro408Ser)
c.7846C>T (p.Pro2616Ser)
c.7651C>T (p.Pro2551Ser)
c.7819C>T (p.Pro2607Ser)
16g.89268522G>CCA397144987ANKRD11c.7948C>G (p.Pro2650Ala)
c.*7751C>G (n.*7751C>G)
c.1222C>G (p.Pro408Ala)
c.7846C>G (p.Pro2616Ala)
c.7651C>G (p.Pro2551Ala)
c.7819C>G (p.Pro2607Ala)
16g.89268522G>TCA397144988ANKRD11c.7948C>A (p.Pro2650Thr)
c.*7751C>A (n.*7751C>A)
c.1222C>A (p.Pro408Thr)
c.7846C>A (p.Pro2616Thr)
c.7651C>A (p.Pro2551Thr)
c.7819C>A (p.Pro2607Thr)
gnomAD v4
16g.89268523C>ACA497165577ANKRD11c.7947G>T (p.Val2649=)
c.*7750G>T (n.*7750G>T)
c.1221G>T (p.Val407=)
c.7845G>T (p.Val2615=)
c.7650G>T (p.Val2550=)
c.7818G>T (p.Val2606=)
dbSNP
16g.89268523C=CA2241594777ANKRD11c.7947G= (p.Val2649=)
c.*7750G= (n.*7750G=)
c.1221G= (p.Val407=)
c.7845G= (p.Val2615=)
c.7650G= (p.Val2550=)
c.7818G= (p.Val2606=)
16g.89268523C>GCA497165578ANKRD11c.7947G>C (p.Val2649=)
c.*7750G>C (n.*7750G>C)
c.1221G>C (p.Val407=)
c.7845G>C (p.Val2615=)
c.7650G>C (p.Val2550=)
c.7818G>C (p.Val2606=)
16g.89268523C>TCA497165579ANKRD11c.7947G>A (p.Val2649=)
c.*7750G>A (n.*7750G>A)
c.1221G>A (p.Val407=)
c.7845G>A (p.Val2615=)
c.7650G>A (p.Val2550=)
c.7818G>A (p.Val2606=)
16g.89268524A>CCA397144991ANKRD11c.7946T>G (p.Val2649Gly)
c.*7749T>G (n.*7749T>G)
c.1220T>G (p.Val407Gly)
c.7844T>G (p.Val2615Gly)
c.7649T>G (p.Val2550Gly)
c.7817T>G (p.Val2606Gly)
16g.89268524A>GCA397144990ANKRD11c.7946T>C (p.Val2649Ala)
c.*7749T>C (n.*7749T>C)
c.1220T>C (p.Val407Ala)
c.7844T>C (p.Val2615Ala)
c.7649T>C (p.Val2550Ala)
c.7817T>C (p.Val2606Ala)
16g.89268524A>TCA397144989ANKRD11c.7946T>A (p.Val2649Glu)
c.*7749T>A (n.*7749T>A)
c.1220T>A (p.Val407Glu)
c.7844T>A (p.Val2615Glu)
c.7649T>A (p.Val2550Glu)
c.7817T>A (p.Val2606Glu)
16g.89268525C>ACA397144992ANKRD11c.7945G>T (p.Val2649Leu)
c.*7748G>T (n.*7748G>T)
c.1219G>T (p.Val407Leu)
c.7843G>T (p.Val2615Leu)
c.7648G>T (p.Val2550Leu)
c.7816G>T (p.Val2606Leu)
16g.89268525C>GCA397144994ANKRD11c.7945G>C (p.Val2649Leu)
c.*7748G>C (n.*7748G>C)
c.1219G>C (p.Val407Leu)
c.7843G>C (p.Val2615Leu)
c.7648G>C (p.Val2550Leu)
c.7816G>C (p.Val2606Leu)
16g.89268525C>TCA397144993ANKRD11c.7945G>A (p.Val2649Met)
c.*7748G>A (n.*7748G>A)
c.1219G>A (p.Val407Met)
c.7843G>A (p.Val2615Met)
c.7648G>A (p.Val2550Met)
c.7816G>A (p.Val2606Met)
ClinVar dbSNP gnomAD v4 COSMIC
16g.89268526G>ACA286503918ANKRD11c.7944C>T (p.Tyr2648=)
c.*7747C>T (n.*7747C>T)
c.1218C>T (p.Tyr406=)
c.7842C>T (p.Tyr2614=)
c.7647C>T (p.Tyr2549=)
c.7815C>T (p.Tyr2605=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89268526G>CCA397144995ANKRD11c.7944C>G (p.Tyr2648Ter)
c.*7747C>G (n.*7747C>G)
c.1218C>G (p.Tyr406Ter)
c.7842C>G (p.Tyr2614Ter)
c.7647C>G (p.Tyr2549Ter)
c.7815C>G (p.Tyr2605Ter)
16g.89268526G=CA2241594778ANKRD11c.7944C= (p.Tyr2648=)
c.*7747C= (n.*7747C=)
c.1218C= (p.Tyr406=)
c.7842C= (p.Tyr2614=)
c.7647C= (p.Tyr2549=)
c.7815C= (p.Tyr2605=)
16g.89268526G>TCA397144996ANKRD11c.7944C>A (p.Tyr2648Ter)
c.*7747C>A (n.*7747C>A)
c.1218C>A (p.Tyr406Ter)
c.7842C>A (p.Tyr2614Ter)
c.7647C>A (p.Tyr2549Ter)
c.7815C>A (p.Tyr2605Ter)
ClinVar dbSNP
16g.89268527T>ACA397144997ANKRD11c.7943A>T (p.Tyr2648Phe)
c.*7746A>T (n.*7746A>T)
c.1217A>T (p.Tyr406Phe)
c.7841A>T (p.Tyr2614Phe)
c.7646A>T (p.Tyr2549Phe)
c.7814A>T (p.Tyr2605Phe)
16g.89268527T>CCA397144998ANKRD11c.7943A>G (p.Tyr2648Cys)
c.*7746A>G (n.*7746A>G)
c.1217A>G (p.Tyr406Cys)
c.7841A>G (p.Tyr2614Cys)
c.7646A>G (p.Tyr2549Cys)
c.7814A>G (p.Tyr2605Cys)
16g.89268527T>GCA397144999ANKRD11c.7943A>C (p.Tyr2648Ser)
c.*7746A>C (n.*7746A>C)
c.1217A>C (p.Tyr406Ser)
c.7841A>C (p.Tyr2614Ser)
c.7646A>C (p.Tyr2549Ser)
c.7814A>C (p.Tyr2605Ser)
16g.89268528A>CCA397145000ANKRD11c.7942T>G (p.Tyr2648Asp)
c.*7745T>G (n.*7745T>G)
c.1216T>G (p.Tyr406Asp)
c.7840T>G (p.Tyr2614Asp)
c.7645T>G (p.Tyr2549Asp)
c.7813T>G (p.Tyr2605Asp)
16g.89268528A>GCA397145001ANKRD11c.7942T>C (p.Tyr2648His)
c.*7745T>C (n.*7745T>C)
c.1216T>C (p.Tyr406His)
c.7840T>C (p.Tyr2614His)
c.7645T>C (p.Tyr2549His)
c.7813T>C (p.Tyr2605His)
16g.89268528A>TCA397145002ANKRD11c.7942T>A (p.Tyr2648Asn)
c.*7745T>A (n.*7745T>A)
c.1216T>A (p.Tyr406Asn)
c.7840T>A (p.Tyr2614Asn)
c.7645T>A (p.Tyr2549Asn)
c.7813T>A (p.Tyr2605Asn)
16g.89268530_89268532delCA2580092257ANKRD11c.7940_7942del (p.Phe2647del)
c.*7743_*7745del (n.*7743_*7745del)
c.1214_1216del (p.Phe405del)
c.7838_7840del (p.Phe2613del)
c.7643_7645del (p.Phe2548del)
c.7811_7813del (p.Phe2604del)
ClinVar
16g.89268529G>ACA8240973ANKRD11c.7941C>T (p.Phe2647=)
c.*7744C>T (n.*7744C>T)
c.1215C>T (p.Phe405=)
c.7839C>T (p.Phe2613=)
c.7644C>T (p.Phe2548=)
c.7812C>T (p.Phe2604=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89268529G>CCA397145003ANKRD11c.7941C>G (p.Phe2647Leu)
c.*7744C>G (n.*7744C>G)
c.1215C>G (p.Phe405Leu)
c.7839C>G (p.Phe2613Leu)
c.7644C>G (p.Phe2548Leu)
c.7812C>G (p.Phe2604Leu)
16g.89268529G=CA2241594779ANKRD11c.7941C= (p.Phe2647=)
c.*7744C= (n.*7744C=)
c.1215C= (p.Phe405=)
c.7839C= (p.Phe2613=)
c.7644C= (p.Phe2548=)
c.7812C= (p.Phe2604=)
16g.89268529G>TCA397145004ANKRD11c.7941C>A (p.Phe2647Leu)
c.*7744C>A (n.*7744C>A)
c.1215C>A (p.Phe405Leu)
c.7839C>A (p.Phe2613Leu)
c.7644C>A (p.Phe2548Leu)
c.7812C>A (p.Phe2604Leu)
16g.89268530A>CCA397145007ANKRD11c.7940T>G (p.Phe2647Cys)
c.*7743T>G (n.*7743T>G)
c.1214T>G (p.Phe405Cys)
c.7838T>G (p.Phe2613Cys)
c.7643T>G (p.Phe2548Cys)
c.7811T>G (p.Phe2604Cys)
16g.89268530A>GCA397145006ANKRD11c.7940T>C (p.Phe2647Ser)
c.*7743T>C (n.*7743T>C)
c.1214T>C (p.Phe405Ser)
c.7838T>C (p.Phe2613Ser)
c.7643T>C (p.Phe2548Ser)
c.7811T>C (p.Phe2604Ser)
16g.89268530A>TCA397145005ANKRD11c.7940T>A (p.Phe2647Tyr)
c.*7743T>A (n.*7743T>A)
c.1214T>A (p.Phe405Tyr)
c.7838T>A (p.Phe2613Tyr)
c.7643T>A (p.Phe2548Tyr)
c.7811T>A (p.Phe2604Tyr)
16g.89268531A=CA2241594780ANKRD11c.7939T= (p.Phe2647=)
c.*7742T= (n.*7742T=)
c.1213T= (p.Phe405=)
c.7837T= (p.Phe2613=)
c.7642T= (p.Phe2548=)
c.7810T= (p.Phe2604=)
16g.89268531A>CCA397145008ANKRD11c.7939T>G (p.Phe2647Val)
c.*7742T>G (n.*7742T>G)
c.1213T>G (p.Phe405Val)
c.7837T>G (p.Phe2613Val)
c.7642T>G (p.Phe2548Val)
c.7810T>G (p.Phe2604Val)
16g.89268531A>GCA397145009ANKRD11c.7939T>C (p.Phe2647Leu)
c.*7742T>C (n.*7742T>C)
c.1213T>C (p.Phe405Leu)
c.7837T>C (p.Phe2613Leu)
c.7642T>C (p.Phe2548Leu)
c.7810T>C (p.Phe2604Leu)
dbSNP gnomAD v2 gnomAD v4
16g.89268531A>TCA397145010ANKRD11c.7939T>A (p.Phe2647Ile)
c.*7742T>A (n.*7742T>A)
c.1213T>A (p.Phe405Ile)
c.7837T>A (p.Phe2613Ile)
c.7642T>A (p.Phe2548Ile)
c.7810T>A (p.Phe2604Ile)
16g.89268532G>ACA497165582ANKRD11c.7938C>T (p.Ser2646=)
c.*7741C>T (n.*7741C>T)
c.1212C>T (p.Ser404=)
c.7836C>T (p.Ser2612=)
c.7641C>T (p.Ser2547=)
c.7809C>T (p.Ser2603=)
gnomAD v4
16g.89268532G>CCA497165581ANKRD11c.7938C>G (p.Ser2646=)
c.*7741C>G (n.*7741C>G)
c.1212C>G (p.Ser404=)
c.7836C>G (p.Ser2612=)
c.7641C>G (p.Ser2547=)
c.7809C>G (p.Ser2603=)
16g.89268532G>TCA497165580ANKRD11c.7938C>A (p.Ser2646=)
c.*7741C>A (n.*7741C>A)
c.1212C>A (p.Ser404=)
c.7836C>A (p.Ser2612=)
c.7641C>A (p.Ser2547=)
c.7809C>A (p.Ser2603=)
16g.89268532_89268533dupCA2573152761ANKRD11c.7937_7938dup (p.Phe2647ProfsTer?)
c.*7740_*7741dup (n.*7740_*7741dup)
c.1211_1212dup (p.Phe405ProfsTer?)
c.7835_7836dup (p.Phe2613ProfsTer?)
c.7640_7641dup (p.Phe2548ProfsTer?)
c.7808_7809dup (p.Phe2604ProfsTer?)
ClinVar dbSNP
16g.89268533G>ACA397145011ANKRD11c.7937C>T (p.Ser2646Phe)
c.*7740C>T (n.*7740C>T)
c.1211C>T (p.Ser404Phe)
c.618C>T
c.7835C>T (p.Ser2612Phe)
c.7640C>T (p.Ser2547Phe)
c.7808C>T (p.Ser2603Phe)
16g.89268533G>CCA397145012ANKRD11c.7937C>G (p.Ser2646Cys)
c.*7740C>G (n.*7740C>G)
c.1211C>G (p.Ser404Cys)
c.618C>G
c.7835C>G (p.Ser2612Cys)
c.7640C>G (p.Ser2547Cys)
c.7808C>G (p.Ser2603Cys)
16g.89268533G>TCA397145013ANKRD11c.7937C>A (p.Ser2646Tyr)
c.*7740C>A (n.*7740C>A)
c.1211C>A (p.Ser404Tyr)
c.618C>A
c.7835C>A (p.Ser2612Tyr)
c.7640C>A (p.Ser2547Tyr)
c.7808C>A (p.Ser2603Tyr)
16g.89268534A>CCA397145014ANKRD11c.7936T>G (p.Ser2646Ala)
c.*7739T>G (n.*7739T>G)
c.1210T>G (p.Ser404Ala)
c.617T>G
c.7834T>G (p.Ser2612Ala)
c.7639T>G (p.Ser2547Ala)
c.7807T>G (p.Ser2603Ala)
16g.89268534A>GCA397145015ANKRD11c.7936T>C (p.Ser2646Pro)
c.*7739T>C (n.*7739T>C)
c.1210T>C (p.Ser404Pro)
c.617T>C
c.7834T>C (p.Ser2612Pro)
c.7639T>C (p.Ser2547Pro)
c.7807T>C (p.Ser2603Pro)
16g.89268534A>TCA397145016ANKRD11c.7936T>A (p.Ser2646Thr)
c.*7739T>A (n.*7739T>A)
c.1210T>A (p.Ser404Thr)
c.617T>A
c.7834T>A (p.Ser2612Thr)
c.7639T>A (p.Ser2547Thr)
c.7807T>A (p.Ser2603Thr)
16g.89268535G>ACA497165583ANKRD11c.7935C>T (p.Pro2645=)
c.*7738C>T (n.*7738C>T)
c.1209C>T (p.Pro403=)
c.616C>T
c.7833C>T (p.Pro2611=)
c.7638C>T (p.Pro2546=)
c.7806C>T (p.Pro2602=)
dbSNP gnomAD v3 gnomAD v4
16g.89268535G>CCA497165585ANKRD11c.7935C>G (p.Pro2645=)
c.*7738C>G (n.*7738C>G)
c.1209C>G (p.Pro403=)
c.616C>G
c.7833C>G (p.Pro2611=)
c.7638C>G (p.Pro2546=)
c.7806C>G (p.Pro2602=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89268535G=CA2241594781ANKRD11c.7935C= (p.Pro2645=)
c.*7738C= (n.*7738C=)
c.1209C= (p.Pro403=)
c.616C=
c.7833C= (p.Pro2611=)
c.7638C= (p.Pro2546=)
c.7806C= (p.Pro2602=)
16g.89268535G>TCA497165584ANKRD11c.7935C>A (p.Pro2645=)
c.*7738C>A (n.*7738C>A)
c.1209C>A (p.Pro403=)
c.616C>A
c.7833C>A (p.Pro2611=)
c.7638C>A (p.Pro2546=)
c.7806C>A (p.Pro2602=)
gnomAD v4
16g.89268536G>ACA397145017ANKRD11c.7934C>T (p.Pro2645Leu)
c.*7737C>T (n.*7737C>T)
c.1208C>T (p.Pro403Leu)
c.615C>T
c.7832C>T (p.Pro2611Leu)
c.7637C>T (p.Pro2546Leu)
c.7805C>T (p.Pro2602Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89268536G>CCA397145018ANKRD11c.7934C>G (p.Pro2645Arg)
c.*7737C>G (n.*7737C>G)
c.1208C>G (p.Pro403Arg)
c.615C>G
c.7832C>G (p.Pro2611Arg)
c.7637C>G (p.Pro2546Arg)
c.7805C>G (p.Pro2602Arg)
gnomAD v4
16g.89268536G=CA2241594782ANKRD11c.7934C= (p.Pro2645=)
c.*7737C= (n.*7737C=)
c.1208C= (p.Pro403=)
c.615C=
c.7832C= (p.Pro2611=)
c.7637C= (p.Pro2546=)
c.7805C= (p.Pro2602=)
16g.89268536G>TCA397145019ANKRD11c.7934C>A (p.Pro2645His)
c.*7737C>A (n.*7737C>A)
c.1208C>A (p.Pro403His)
c.615C>A
c.7832C>A (p.Pro2611His)
c.7637C>A (p.Pro2546His)
c.7805C>A (p.Pro2602His)
16g.89268537G>ACA397145022ANKRD11c.7933C>T (p.Pro2645Ser)
c.*7736C>T (n.*7736C>T)
c.1207C>T (p.Pro403Ser)
c.614C>T
c.7831C>T (p.Pro2611Ser)
c.7636C>T (p.Pro2546Ser)
c.7804C>T (p.Pro2602Ser)
gnomAD v4
16g.89268537G>CCA397145021ANKRD11c.7933C>G (p.Pro2645Ala)
c.*7736C>G (n.*7736C>G)
c.1207C>G (p.Pro403Ala)
c.614C>G
c.7831C>G (p.Pro2611Ala)
c.7636C>G (p.Pro2546Ala)
c.7804C>G (p.Pro2602Ala)
16g.89268537G>TCA397145020ANKRD11c.7933C>A (p.Pro2645Thr)
c.*7736C>A (n.*7736C>A)
c.1207C>A (p.Pro403Thr)
c.614C>A
c.7831C>A (p.Pro2611Thr)
c.7636C>A (p.Pro2546Thr)
c.7804C>A (p.Pro2602Thr)
gnomAD v4
16g.89268538C>ACA497165588ANKRD11c.7932G>T (p.Val2644=)
c.*7735G>T (n.*7735G>T)
c.1206G>T (p.Val402=)
c.613G>T
c.7830G>T (p.Val2610=)
c.7635G>T (p.Val2545=)
c.7803G>T (p.Val2601=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89268538C=CA2241594783ANKRD11c.7932G= (p.Val2644=)
c.*7735G= (n.*7735G=)
c.1206G= (p.Val402=)
c.613G=
c.7830G= (p.Val2610=)
c.7635G= (p.Val2545=)
c.7803G= (p.Val2601=)
16g.89268538C>GCA497165589ANKRD11c.7932G>C (p.Val2644=)
c.*7735G>C (n.*7735G>C)
c.1206G>C (p.Val402=)
c.613G>C
c.7830G>C (p.Val2610=)
c.7635G>C (p.Val2545=)
c.7803G>C (p.Val2601=)
16g.89268538C>TCA497165590ANKRD11c.7932G>A (p.Val2644=)
c.*7735G>A (n.*7735G>A)
c.1206G>A (p.Val402=)
c.613G>A
c.7830G>A (p.Val2610=)
c.7635G>A (p.Val2545=)
c.7803G>A (p.Val2601=)
dbSNP gnomAD v2 gnomAD v4
16g.89268539A>CCA397145023ANKRD11c.7931T>G (p.Val2644Gly)
c.*7734T>G (n.*7734T>G)
c.1205T>G (p.Val402Gly)
c.612T>G
c.7829T>G (p.Val2610Gly)
c.7634T>G (p.Val2545Gly)
c.7802T>G (p.Val2601Gly)
16g.89268539A>GCA397145024ANKRD11c.7931T>C (p.Val2644Ala)
c.*7734T>C (n.*7734T>C)
c.1205T>C (p.Val402Ala)
c.612T>C
c.7829T>C (p.Val2610Ala)
c.7634T>C (p.Val2545Ala)
c.7802T>C (p.Val2601Ala)
16g.89268539A>TCA397145025ANKRD11c.7931T>A (p.Val2644Glu)
c.*7734T>A (n.*7734T>A)
c.1205T>A (p.Val402Glu)
c.612T>A
c.7829T>A (p.Val2610Glu)
c.7634T>A (p.Val2545Glu)
c.7802T>A (p.Val2601Glu)
16g.89268540C>ACA397145026ANKRD11c.7930G>T (p.Val2644Leu)
c.*7733G>T (n.*7733G>T)
c.1204G>T (p.Val402Leu)
c.611G>T
c.7828G>T (p.Val2610Leu)
c.7633G>T (p.Val2545Leu)
c.7801G>T (p.Val2601Leu)
16g.89268540C>GCA397145027ANKRD11c.7930G>C (p.Val2644Leu)
c.*7733G>C (n.*7733G>C)
c.1204G>C (p.Val402Leu)
c.611G>C
c.7828G>C (p.Val2610Leu)
c.7633G>C (p.Val2545Leu)
c.7801G>C (p.Val2601Leu)
16g.89268540C>TCA397145028ANKRD11c.7930G>A (p.Val2644Met)
c.*7733G>A (n.*7733G>A)
c.1204G>A (p.Val402Met)
c.611G>A
c.7828G>A (p.Val2610Met)
c.7633G>A (p.Val2545Met)
c.7801G>A (p.Val2601Met)
16g.89268541C>ACA397145029ANKRD11c.7929G>T (p.Glu2643Asp)
c.*7732G>T (n.*7732G>T)
c.1203G>T (p.Glu401Asp)
c.610G>T
c.7827G>T (p.Glu2609Asp)
c.7632G>T (p.Glu2544Asp)
c.7800G>T (p.Glu2600Asp)
gnomAD v4
16g.89268541C=CA2241594784ANKRD11c.7929G= (p.Glu2643=)
c.*7732G= (n.*7732G=)
c.1203G= (p.Glu401=)
c.610G=
c.7827G= (p.Glu2609=)
c.7632G= (p.Glu2544=)
c.7800G= (p.Glu2600=)
16g.89268541C>GCA8240974ANKRD11c.7929G>C (p.Glu2643Asp)
c.*7732G>C (n.*7732G>C)
c.1203G>C (p.Glu401Asp)
c.610G>C
c.7827G>C (p.Glu2609Asp)
c.7632G>C (p.Glu2544Asp)
c.7800G>C (p.Glu2600Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89268541C>TCA497165594ANKRD11c.7929G>A (p.Glu2643=)
c.*7732G>A (n.*7732G>A)
c.1203G>A (p.Glu401=)
c.610G>A
c.7827G>A (p.Glu2609=)
c.7632G>A (p.Glu2544=)
c.7800G>A (p.Glu2600=)
16g.89268542T>ACA397145030ANKRD11c.7928A>T (p.Glu2643Val)
c.*7731A>T (n.*7731A>T)
c.1202A>T (p.Glu401Val)
c.609A>T
c.7826A>T (p.Glu2609Val)
c.7631A>T (p.Glu2544Val)
c.7799A>T (p.Glu2600Val)
16g.89268542T>CCA397145031ANKRD11c.7928A>G (p.Glu2643Gly)
c.*7731A>G (n.*7731A>G)
c.1202A>G (p.Glu401Gly)
c.609A>G
c.7826A>G (p.Glu2609Gly)
c.7631A>G (p.Glu2544Gly)
c.7799A>G (p.Glu2600Gly)
16g.89268542T>GCA397145032ANKRD11c.7928A>C (p.Glu2643Ala)
c.*7731A>C (n.*7731A>C)
c.1202A>C (p.Glu401Ala)
c.609A>C
c.7826A>C (p.Glu2609Ala)
c.7631A>C (p.Glu2544Ala)
c.7799A>C (p.Glu2600Ala)
16g.89268543C>ACA397145033ANKRD11c.7927G>T (p.Glu2643Ter)
c.*7730G>T (n.*7730G>T)
c.1201G>T (p.Glu401Ter)
c.608G>T
c.7825G>T (p.Glu2609Ter)
c.7630G>T (p.Glu2544Ter)
c.7798G>T (p.Glu2600Ter)
16g.89268543C=CA2241594785ANKRD11c.7927G= (p.Glu2643=)
c.*7730G= (n.*7730G=)
c.1201G= (p.Glu401=)
c.608G=
c.7825G= (p.Glu2609=)
c.7630G= (p.Glu2544=)
c.7798G= (p.Glu2600=)
16g.89268543C>GCA397145034ANKRD11c.7927G>C (p.Glu2643Gln)
c.*7730G>C (n.*7730G>C)
c.1201G>C (p.Glu401Gln)
c.608G>C
c.7825G>C (p.Glu2609Gln)
c.7630G>C (p.Glu2544Gln)
c.7798G>C (p.Glu2600Gln)
16g.89268543C>TCA16620300ANKRD11c.7927G>A (p.Glu2643Lys)
c.*7730G>A (n.*7730G>A)
c.1201G>A (p.Glu401Lys)
c.608G>A
c.7825G>A (p.Glu2609Lys)
c.7630G>A (p.Glu2544Lys)
c.7798G>A (p.Glu2600Lys)
ClinVar dbSNP gnomAD v4
16g.89268544G>ACA497165597ANKRD11c.7926C>T (p.Asn2642=)
c.*7729C>T (n.*7729C>T)
c.1200C>T (p.Asn400=)
c.607C>T
c.7824C>T (p.Asn2608=)
c.7629C>T (p.Asn2543=)
c.7797C>T (p.Asn2599=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89268544G>CCA397145035ANKRD11c.7926C>G (p.Asn2642Lys)
c.*7729C>G (n.*7729C>G)
c.1200C>G (p.Asn400Lys)
c.607C>G
c.7824C>G (p.Asn2608Lys)
c.7629C>G (p.Asn2543Lys)
c.7797C>G (p.Asn2599Lys)
gnomAD v4
16g.89268544G=CA2241594786ANKRD11c.7926C= (p.Asn2642=)
c.*7729C= (n.*7729C=)
c.1200C= (p.Asn400=)
c.607C=
c.7824C= (p.Asn2608=)
c.7629C= (p.Asn2543=)
c.7797C= (p.Asn2599=)
16g.89268544G>TCA397145036ANKRD11c.7926C>A (p.Asn2642Lys)
c.*7729C>A (n.*7729C>A)
c.1200C>A (p.Asn400Lys)
c.607C>A
c.7824C>A (p.Asn2608Lys)
c.7629C>A (p.Asn2543Lys)
c.7797C>A (p.Asn2599Lys)
gnomAD v4
16g.89268545T>ACA397145037ANKRD11c.7925A>T (p.Asn2642Ile)
c.*7728A>T (n.*7728A>T)
c.1199A>T (p.Asn400Ile)
c.606A>T
c.7823A>T (p.Asn2608Ile)
c.7628A>T (p.Asn2543Ile)
c.7796A>T (p.Asn2599Ile)
16g.89268545T>CCA397145038ANKRD11c.7925A>G (p.Asn2642Ser)
c.*7728A>G (n.*7728A>G)
c.1199A>G (p.Asn400Ser)
c.606A>G
c.7823A>G (p.Asn2608Ser)
c.7628A>G (p.Asn2543Ser)
c.7796A>G (p.Asn2599Ser)
16g.89268545T>GCA397145039ANKRD11c.7925A>C (p.Asn2642Thr)
c.*7728A>C (n.*7728A>C)
c.1199A>C (p.Asn400Thr)
c.606A>C
c.7823A>C (p.Asn2608Thr)
c.7628A>C (p.Asn2543Thr)
c.7796A>C (p.Asn2599Thr)
gnomAD v4
16g.89268546T>ACA397145040ANKRD11c.7924A>T (p.Asn2642Tyr)
c.*7727A>T (n.*7727A>T)
c.1198A>T (p.Asn400Tyr)
c.605A>T
c.7822A>T (p.Asn2608Tyr)
c.7627A>T (p.Asn2543Tyr)
c.7795A>T (p.Asn2599Tyr)
16g.89268546T>CCA397145041ANKRD11c.7924A>G (p.Asn2642Asp)
c.*7727A>G (n.*7727A>G)
c.1198A>G (p.Asn400Asp)
c.605A>G
c.7822A>G (p.Asn2608Asp)
c.7627A>G (p.Asn2543Asp)
c.7795A>G (p.Asn2599Asp)
16g.89268546T>GCA397145042ANKRD11c.7924A>C (p.Asn2642His)
c.*7727A>C (n.*7727A>C)
c.1198A>C (p.Asn400His)
c.605A>C
c.7822A>C (p.Asn2608His)
c.7627A>C (p.Asn2543His)
c.7795A>C (p.Asn2599His)
16g.89268547C>ACA497165599ANKRD11c.7923G>T (p.Val2641=)
c.*7726G>T (n.*7726G>T)
c.1197G>T (p.Val399=)
c.604G>T
c.7821G>T (p.Val2607=)
c.7626G>T (p.Val2542=)
c.7794G>T (p.Val2598=)
gnomAD v4
16g.89268547C>GCA497165600ANKRD11c.7923G>C (p.Val2641=)
c.*7726G>C (n.*7726G>C)
c.1197G>C (p.Val399=)
c.604G>C
c.7821G>C (p.Val2607=)
c.7626G>C (p.Val2542=)
c.7794G>C (p.Val2598=)
16g.89268547C>TCA497165601ANKRD11c.7923G>A (p.Val2641=)
c.*7726G>A (n.*7726G>A)
c.1197G>A (p.Val399=)
c.604G>A
c.7821G>A (p.Val2607=)
c.7626G>A (p.Val2542=)
c.7794G>A (p.Val2598=)
16g.89268548A>CCA397145043ANKRD11c.7922T>G (p.Val2641Gly)
c.*7725T>G (n.*7725T>G)
c.1196T>G (p.Val399Gly)
c.603T>G
c.7820T>G (p.Val2607Gly)
c.7625T>G (p.Val2542Gly)
c.7793T>G (p.Val2598Gly)
16g.89268548A>GCA397145044ANKRD11c.7922T>C (p.Val2641Ala)
c.*7725T>C (n.*7725T>C)
c.1196T>C (p.Val399Ala)
c.603T>C
c.7820T>C (p.Val2607Ala)
c.7625T>C (p.Val2542Ala)
c.7793T>C (p.Val2598Ala)
16g.89268548A>TCA397145045ANKRD11c.7922T>A (p.Val2641Glu)
c.*7725T>A (n.*7725T>A)
c.1196T>A (p.Val399Glu)
c.603T>A
c.7820T>A (p.Val2607Glu)
c.7625T>A (p.Val2542Glu)
c.7793T>A (p.Val2598Glu)
16g.89268549C>ACA397145046ANKRD11c.7921G>T (p.Val2641Leu)
c.*7724G>T (n.*7724G>T)
c.1195G>T (p.Val399Leu)
c.602G>T
c.7819G>T (p.Val2607Leu)
c.7624G>T (p.Val2542Leu)
c.7792G>T (p.Val2598Leu)
16g.89268549C>GCA397145047ANKRD11c.7921G>C (p.Val2641Leu)
c.*7724G>C (n.*7724G>C)
c.1195G>C (p.Val399Leu)
c.602G>C
c.7819G>C (p.Val2607Leu)
c.7624G>C (p.Val2542Leu)
c.7792G>C (p.Val2598Leu)
16g.89268549C>TCA397145048ANKRD11c.7921G>A (p.Val2641Met)
c.*7724G>A (n.*7724G>A)
c.1195G>A (p.Val399Met)
c.602G>A
c.7819G>A (p.Val2607Met)
c.7624G>A (p.Val2542Met)
c.7792G>A (p.Val2598Met)
ClinVar dbSNP gnomAD v4
16g.89268550G>ACA497165602ANKRD11c.7920C>T (p.Cys2640=)
c.*7723C>T (n.*7723C>T)
c.1194C>T (p.Cys398=)
c.601C>T
c.7818C>T (p.Cys2606=)
c.7623C>T (p.Cys2541=)
c.7791C>T (p.Cys2597=)
dbSNP gnomAD v4
16g.89268550G>CCA397145050ANKRD11c.7920C>G (p.Cys2640Trp)
c.*7723C>G (n.*7723C>G)
c.1194C>G (p.Cys398Trp)
c.601C>G
c.7818C>G (p.Cys2606Trp)
c.7623C>G (p.Cys2541Trp)
c.7791C>G (p.Cys2597Trp)
16g.89268550G=CA2241594787ANKRD11c.7920C= (p.Cys2640=)
c.*7723C= (n.*7723C=)
c.1194C= (p.Cys398=)
c.601C=
c.7818C= (p.Cys2606=)
c.7623C= (p.Cys2541=)
c.7791C= (p.Cys2597=)
16g.89268550G>TCA397145049ANKRD11c.7920C>A (p.Cys2640Ter)
c.*7723C>A (n.*7723C>A)
c.1194C>A (p.Cys398Ter)
c.601C>A
c.7818C>A (p.Cys2606Ter)
c.7623C>A (p.Cys2541Ter)
c.7791C>A (p.Cys2597Ter)
gnomAD v4
16g.89268551C>ACA397145051ANKRD11c.7919G>T (p.Cys2640Phe)
c.*7722G>T (n.*7722G>T)
c.1193G>T (p.Cys398Phe)
c.600G>T
c.7817G>T (p.Cys2606Phe)
c.7622G>T (p.Cys2541Phe)
c.7790G>T (p.Cys2597Phe)
16g.89268551C>GCA397145053ANKRD11c.7919G>C (p.Cys2640Ser)
c.*7722G>C (n.*7722G>C)
c.1193G>C (p.Cys398Ser)
c.600G>C
c.7817G>C (p.Cys2606Ser)
c.7622G>C (p.Cys2541Ser)
c.7790G>C (p.Cys2597Ser)
16g.89268551C>TCA397145052ANKRD11c.7919G>A (p.Cys2640Tyr)
c.*7722G>A (n.*7722G>A)
c.1193G>A (p.Cys398Tyr)
c.600G>A
c.7817G>A (p.Cys2606Tyr)
c.7622G>A (p.Cys2541Tyr)
c.7790G>A (p.Cys2597Tyr)
16g.89268552A>CCA397145054ANKRD11c.7918T>G (p.Cys2640Gly)
c.*7721T>G (n.*7721T>G)
c.1192T>G (p.Cys398Gly)
c.599T>G
c.7816T>G (p.Cys2606Gly)
c.7621T>G (p.Cys2541Gly)
c.7789T>G (p.Cys2597Gly)
16g.89268552A>GCA397145056ANKRD11c.7918T>C (p.Cys2640Arg)
c.*7721T>C (n.*7721T>C)
c.1192T>C (p.Cys398Arg)
c.599T>C
c.7816T>C (p.Cys2606Arg)
c.7621T>C (p.Cys2541Arg)
c.7789T>C (p.Cys2597Arg)
16g.89268552A>TCA397145055ANKRD11c.7918T>A (p.Cys2640Ser)
c.*7721T>A (n.*7721T>A)
c.1192T>A (p.Cys398Ser)
c.599T>A
c.7816T>A (p.Cys2606Ser)
c.7621T>A (p.Cys2541Ser)
c.7789T>A (p.Cys2597Ser)

Number of alleles fetched