Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.167341251G>ACA366424366TTLL2c.1351G>A (p.Asp451Asn)
c.1132G>A (p.Asp378Asn)
gnomAD v4
6g.167341251G>CCA366424367TTLL2c.1351G>C (p.Asp451His)
c.1132G>C (p.Asp378His)
dbSNP gnomAD v2 gnomAD v4
6g.167341251G=CA1680342028TTLL2c.1351G= (p.Asp451=)
c.1132G= (p.Asp378=)
6g.167341251G>TCA366424368TTLL2c.1351G>T (p.Asp451Tyr)
c.1132G>T (p.Asp378Tyr)
6g.167341252A>CCA366424369TTLL2c.1352A>C (p.Asp451Ala)
c.1133A>C (p.Asp378Ala)
gnomAD v4
6g.167341252A>GCA366424370TTLL2c.1352A>G (p.Asp451Gly)
c.1133A>G (p.Asp378Gly)
6g.167341252A>TCA366424371TTLL2c.1352A>T (p.Asp451Val)
c.1133A>T (p.Asp378Val)
6g.167341253C>ACA366424372TTLL2c.1353C>A (p.Asp451Glu)
c.1134C>A (p.Asp378Glu)
6g.167341253C>GCA366424373TTLL2c.1353C>G (p.Asp451Glu)
c.1134C>G (p.Asp378Glu)
6g.167341253C>TCA453305330TTLL2c.1353C>T (p.Asp451=)
c.1134C>T (p.Asp378=)
6g.167341254T>ACA366424374TTLL2c.1354T>A (p.Cys452Ser)
c.1135T>A (p.Cys379Ser)
6g.167341254T>CCA366424375TTLL2c.1354T>C (p.Cys452Arg)
c.1135T>C (p.Cys379Arg)
6g.167341254T>GCA366424376TTLL2c.1354T>G (p.Cys452Gly)
c.1135T>G (p.Cys379Gly)
gnomAD v4
6g.167341255G>ACA366424379TTLL2c.1355G>A (p.Cys452Tyr)
c.1136G>A (p.Cys379Tyr)
gnomAD v4
6g.167341255G>CCA366424378TTLL2c.1355G>C (p.Cys452Ser)
c.1136G>C (p.Cys379Ser)
6g.167341255G>TCA366424377TTLL2c.1355G>T (p.Cys452Phe)
c.1136G>T (p.Cys379Phe)
6g.167341256T>ACA366424380TTLL2c.1356T>A (p.Cys452Ter)
c.1137T>A (p.Cys379Ter)
6g.167341256T>CCA453305336TTLL2c.1356T>C (p.Cys452=)
c.1137T>C (p.Cys379=)
gnomAD v4
6g.167341256T>GCA366424381TTLL2c.1356T>G (p.Cys452Trp)
c.1137T>G (p.Cys379Trp)
6g.167341257C>ACA366424382TTLL2c.1357C>A (p.Leu453Ile)
c.1138C>A (p.Leu380Ile)
6g.167341257C>GCA366424383TTLL2c.1357C>G (p.Leu453Val)
c.1138C>G (p.Leu380Val)
6g.167341257C>TCA366424384TTLL2c.1357C>T (p.Leu453Phe)
c.1138C>T (p.Leu380Phe)
gnomAD v4
6g.167341260_167341263delCA2681211344TTLL2c.1360_1363del (p.Pro454MetfsTer22)
c.1141_1144del (p.Pro381MetfsTer22)
gnomAD v4
6g.167341258T>ACA366424387TTLL2c.1358T>A (p.Leu453His)
c.1139T>A (p.Leu380His)
6g.167341258T>CCA366424386TTLL2c.1358T>C (p.Leu453Pro)
c.1139T>C (p.Leu380Pro)
6g.167341258T>GCA366424385TTLL2c.1358T>G (p.Leu453Arg)
c.1139T>G (p.Leu380Arg)
6g.167341259T>ACA453305341TTLL2c.1359T>A (p.Leu453=)
c.1140T>A (p.Leu380=)
6g.167341259T>CCA453305342TTLL2c.1359T>C (p.Leu453=)
c.1140T>C (p.Leu380=)
gnomAD v4
6g.167341259T>GCA453305343TTLL2c.1359T>G (p.Leu453=)
c.1140T>G (p.Leu380=)
6g.167341260C>ACA366424388TTLL2c.1360C>A (p.Pro454Thr)
c.1141C>A (p.Pro381Thr)
6g.167341260C=CA1680342029TTLL2c.1360C= (p.Pro454=)
c.1141C= (p.Pro381=)
6g.167341260C>GCA4097522TTLL2c.1360C>G (p.Pro454Ala)
c.1141C>G (p.Pro381Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341260C>TCA366424389TTLL2c.1360C>T (p.Pro454Ser)
c.1141C>T (p.Pro381Ser)
COSMIC
6g.167341261C>ACA366424390TTLL2c.1361C>A (p.Pro454His)
c.1142C>A (p.Pro381His)
6g.167341261C>GCA366424391TTLL2c.1361C>G (p.Pro454Arg)
c.1142C>G (p.Pro381Arg)
6g.167341261C>TCA366424392TTLL2c.1361C>T (p.Pro454Leu)
c.1142C>T (p.Pro381Leu)
6g.167341262T>ACA453305060TTLL2c.1362T>A (p.Pro454=)
c.1143T>A (p.Pro381=)
6g.167341262T>CCA453305061TTLL2c.1362T>C (p.Pro454=)
c.1143T>C (p.Pro381=)
6g.167341262T>GCA453305062TTLL2c.1362T>G (p.Pro454=)
c.1143T>G (p.Pro381=)
6g.167341263T>ACA366424393TTLL2c.1363T>A (p.Tyr455Asn)
c.1144T>A (p.Tyr382Asn)
6g.167341263T>CCA366424395TTLL2c.1363T>C (p.Tyr455His)
c.1144T>C (p.Tyr382His)
6g.167341263T>GCA366424394TTLL2c.1363T>G (p.Tyr455Asp)
c.1144T>G (p.Tyr382Asp)
6g.167341264A>CCA366424396TTLL2c.1364A>C (p.Tyr455Ser)
c.1145A>C (p.Tyr382Ser)
6g.167341264A>GCA366424397TTLL2c.1364A>G (p.Tyr455Cys)
c.1145A>G (p.Tyr382Cys)
6g.167341264A>TCA366424398TTLL2c.1364A>T (p.Tyr455Phe)
c.1145A>T (p.Tyr382Phe)
6g.167341265T>ACA366424399TTLL2c.1365T>A (p.Tyr455Ter)
c.1146T>A (p.Tyr382Ter)
6g.167341265T>CCA453305064TTLL2c.1365T>C (p.Tyr455=)
c.1146T>C (p.Tyr382=)
6g.167341265T>GCA366424400TTLL2c.1365T>G (p.Tyr455Ter)
c.1146T>G (p.Tyr382Ter)
6g.167341266G>ACA366424401TTLL2c.1366G>A (p.Asp456Asn)
c.1147G>A (p.Asp383Asn)
6g.167341266G>CCA366424402TTLL2c.1366G>C (p.Asp456His)
c.1147G>C (p.Asp383His)
6g.167341266G=CA1680342030TTLL2c.1366G= (p.Asp456=)
c.1147G= (p.Asp383=)
6g.167341266G>TCA366424403TTLL2c.1366G>T (p.Asp456Tyr)
c.1147G>T (p.Asp383Tyr)
dbSNP gnomAD v4
6g.167341267A=CA1680342031TTLL2c.1367A= (p.Asp456=)
c.1148A= (p.Asp383=)
6g.167341267A>CCA366424404TTLL2c.1367A>C (p.Asp456Ala)
c.1148A>C (p.Asp383Ala)
dbSNP gnomAD v3 gnomAD v4
6g.167341267A>GCA366424405TTLL2c.1367A>G (p.Asp456Gly)
c.1148A>G (p.Asp383Gly)
6g.167341267A>TCA366424406TTLL2c.1367A>T (p.Asp456Val)
c.1148A>T (p.Asp383Val)
6g.167341267_167341271delCA453305065TTLL2c.1367_1371del (p.Asp456AlafsTer12)
c.1148_1152del (p.Asp383AlafsTer12)
6g.167341268T>ACA366424408TTLL2c.1368T>A (p.Asp456Glu)
c.1149T>A (p.Asp383Glu)
6g.167341268T>CCA453305067TTLL2c.1368T>C (p.Asp456=)
c.1149T>C (p.Asp383=)
6g.167341268T>GCA366424407TTLL2c.1368T>G (p.Asp456Glu)
c.1149T>G (p.Asp383Glu)
6g.167341269T>ACA366424409TTLL2c.1369T>A (p.Ser457Thr)
c.1150T>A (p.Ser384Thr)
6g.167341269T>CCA366424411TTLL2c.1369T>C (p.Ser457Pro)
c.1150T>C (p.Ser384Pro)
6g.167341269T>GCA366424410TTLL2c.1369T>G (p.Ser457Ala)
c.1150T>G (p.Ser384Ala)
6g.167341270C>ACA366424412TTLL2c.1370C>A (p.Ser457Tyr)
c.1151C>A (p.Ser384Tyr)
COSMIC
6g.167341270C=CA1680342032TTLL2c.1370C= (p.Ser457=)
c.1151C= (p.Ser384=)
6g.167341270C>GCA366424414TTLL2c.1370C>G (p.Ser457Cys)
c.1151C>G (p.Ser384Cys)
6g.167341270C>TCA366424413TTLL2c.1370C>T (p.Ser457Phe)
c.1151C>T (p.Ser384Phe)
dbSNP
6g.167341271T>ACA453305071TTLL2c.1371T>A (p.Ser457=)
c.1152T>A (p.Ser384=)
gnomAD v4
6g.167341271T>CCA453305073TTLL2c.1371T>C (p.Ser457=)
c.1152T>C (p.Ser384=)
6g.167341271T>GCA453305075TTLL2c.1371T>G (p.Ser457=)
c.1152T>G (p.Ser384=)
6g.167341272C>ACA366424415TTLL2c.1372C>A (p.Leu458Ile)
c.1153C>A (p.Leu385Ile)
6g.167341272C=CA1680342033TTLL2c.1372C= (p.Leu458=)
c.1153C= (p.Leu385=)
6g.167341272C>GCA4097523TTLL2c.1372C>G (p.Leu458Val)
c.1153C>G (p.Leu385Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341272C>TCA366424416TTLL2c.1372C>T (p.Leu458Phe)
c.1153C>T (p.Leu385Phe)
6g.167341273T>ACA366424417TTLL2c.1373T>A (p.Leu458His)
c.1154T>A (p.Leu385His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.167341273T>CCA366424418TTLL2c.1373T>C (p.Leu458Pro)
c.1154T>C (p.Leu385Pro)
6g.167341273T>GCA366424419TTLL2c.1373T>G (p.Leu458Arg)
c.1154T>G (p.Leu385Arg)
6g.167341273T=CA1680342034TTLL2c.1373T= (p.Leu458=)
c.1154T= (p.Leu385=)
6g.167341274T>ACA453305077TTLL2c.1374T>A (p.Leu458=)
c.1155T>A (p.Leu385=)
6g.167341274T>CCA453305076TTLL2c.1374T>C (p.Leu458=)
c.1155T>C (p.Leu385=)
6g.167341274T>GCA453305079TTLL2c.1374T>G (p.Leu458=)
c.1155T>G (p.Leu385=)
6g.167341275T>ACA366424420TTLL2c.1375T>A (p.Ser459Thr)
c.1156T>A (p.Ser386Thr)
gnomAD v4
6g.167341275T>CCA4097525TTLL2c.1375T>C (p.Ser459Pro)
c.1156T>C (p.Ser386Pro)
dbSNP ExAC gnomAD v2
6g.167341275T>GCA366424421TTLL2c.1375T>G (p.Ser459Ala)
c.1156T>G (p.Ser386Ala)
6g.167341275T=CA1680342035TTLL2c.1375T= (p.Ser459=)
c.1156T= (p.Ser386=)
6g.167341275_167341276delinsTCCA1680342036TTLL2c.1375_1376delinsTC (p.Ser459=)
c.1156_1157delinsTC (p.Ser386=)
6g.167341276delCA4097524TTLL2c.1376del (p.Ser459CysfsTer18)
c.1157del (p.Ser386CysfsTer18)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341276C>ACA366424422TTLL2c.1376C>A (p.Ser459Ter)
c.1157C>A (p.Ser386Ter)
6g.167341276C=CA1680342037TTLL2c.1376C= (p.Ser459=)
c.1157C= (p.Ser386=)
6g.167341276C>GCA366424423TTLL2c.1376C>G (p.Ser459Trp)
c.1157C>G (p.Ser386Trp)
6g.167341276C>TCA4097526TTLL2c.1376C>T (p.Ser459Leu)
c.1157C>T (p.Ser386Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.167341277G>ACA4097527TTLL2c.1377G>A (p.Ser459=)
c.1158G>A (p.Ser386=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.167341277G>CCA453305081TTLL2c.1377G>C (p.Ser459=)
c.1158G>C (p.Ser386=)
6g.167341277G=CA1680342038TTLL2c.1377G= (p.Ser459=)
c.1158G= (p.Ser386=)
6g.167341277G>TCA453305082TTLL2c.1377G>T (p.Ser459=)
c.1158G>T (p.Ser386=)
gnomAD v4
6g.167341278T>ACA366424424TTLL2c.1378T>A (p.Phe460Ile)
c.1159T>A (p.Phe387Ile)
6g.167341278T>CCA366424425TTLL2c.1378T>C (p.Phe460Leu)
c.1159T>C (p.Phe387Leu)
6g.167341278T>GCA366424426TTLL2c.1378T>G (p.Phe460Val)
c.1159T>G (p.Phe387Val)
6g.167341279T>ACA366424427TTLL2c.1379T>A (p.Phe460Tyr)
c.1160T>A (p.Phe387Tyr)
6g.167341279T>CCA366424428TTLL2c.1379T>C (p.Phe460Ser)
c.1160T>C (p.Phe387Ser)
6g.167341279T>GCA366424429TTLL2c.1379T>G (p.Phe460Cys)
c.1160T>G (p.Phe387Cys)
6g.167341280C>ACA366424430TTLL2c.1380C>A (p.Phe460Leu)
c.1161C>A (p.Phe387Leu)
6g.167341280C>GCA366424431TTLL2c.1380C>G (p.Phe460Leu)
c.1161C>G (p.Phe387Leu)
6g.167341280C>TCA453305083TTLL2c.1380C>T (p.Phe460=)
c.1161C>T (p.Phe387=)
6g.167341281A>CCA366424432TTLL2c.1381A>C (p.Thr461Pro)
c.1162A>C (p.Thr388Pro)
6g.167341281A>GCA366424433TTLL2c.1381A>G (p.Thr461Ala)
c.1162A>G (p.Thr388Ala)
6g.167341281A>TCA366424434TTLL2c.1381A>T (p.Thr461Ser)
c.1162A>T (p.Thr388Ser)
6g.167341282C>ACA366424437TTLL2c.1382C>A (p.Thr461Lys)
c.1163C>A (p.Thr388Lys)
6g.167341282C=CA1680342039TTLL2c.1382C= (p.Thr461=)
c.1163C= (p.Thr388=)
6g.167341282C>GCA366424436TTLL2c.1382C>G (p.Thr461Arg)
c.1163C>G (p.Thr388Arg)
dbSNP
6g.167341282C>TCA366424435TTLL2c.1382C>T (p.Thr461Ile)
c.1163C>T (p.Thr388Ile)
gnomAD v4
6g.167341283A>CCA453305084TTLL2c.1383A>C (p.Thr461=)
c.1164A>C (p.Thr388=)
6g.167341283A>GCA453305085TTLL2c.1383A>G (p.Thr461=)
c.1164A>G (p.Thr388=)
6g.167341283A>TCA453305086TTLL2c.1383A>T (p.Thr461=)
c.1164A>T (p.Thr388=)
6g.167341284A>CCA366424438TTLL2c.1384A>C (p.Ser462Arg)
c.1165A>C (p.Ser389Arg)
6g.167341284A>GCA366424439TTLL2c.1384A>G (p.Ser462Gly)
c.1165A>G (p.Ser389Gly)
gnomAD v4
6g.167341284A>TCA366424440TTLL2c.1384A>T (p.Ser462Cys)
c.1165A>T (p.Ser389Cys)
6g.167341285G>ACA366424441TTLL2c.1385G>A (p.Ser462Asn)
c.1166G>A (p.Ser389Asn)
6g.167341285G>CCA366424442TTLL2c.1385G>C (p.Ser462Thr)
c.1166G>C (p.Ser389Thr)
6g.167341285G>TCA366424443TTLL2c.1385G>T (p.Ser462Ile)
c.1166G>T (p.Ser389Ile)
6g.167341286C>ACA366424444TTLL2c.1386C>A (p.Ser462Arg)
c.1167C>A (p.Ser389Arg)
6g.167341286C=CA1680342040TTLL2c.1386C= (p.Ser462=)
c.1167C= (p.Ser389=)
6g.167341286C>GCA366424445TTLL2c.1386C>G (p.Ser462Arg)
c.1167C>G (p.Ser389Arg)
6g.167341286C>TCA453305087TTLL2c.1386C>T (p.Ser462=)
c.1167C>T (p.Ser389=)
dbSNP gnomAD v4
6g.167341287A=CA1680342041TTLL2c.1387A= (p.Arg463=)
c.1168A= (p.Arg390=)
6g.167341287A>CCA453305088TTLL2c.1387A>C (p.Arg463=)
c.1168A>C (p.Arg390=)
dbSNP
6g.167341287A>GCA366424446TTLL2c.1387A>G (p.Arg463Gly)
c.1168A>G (p.Arg390Gly)
6g.167341287A>TCA366424447TTLL2c.1387A>T (p.Arg463Ter)
c.1168A>T (p.Arg390Ter)
6g.167341288G>ACA366424448TTLL2c.1388G>A (p.Arg463Lys)
c.1169G>A (p.Arg390Lys)
6g.167341288G>CCA366424449TTLL2c.1388G>C (p.Arg463Thr)
c.1169G>C (p.Arg390Thr)
6g.167341288G=CA1680342042TTLL2c.1388G= (p.Arg463=)
c.1169G= (p.Arg390=)
6g.167341288G>TCA4097528TTLL2c.1388G>T (p.Arg463Ile)
c.1169G>T (p.Arg390Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341289A=CA1680342043TTLL2c.1389A= (p.Arg463=)
c.1170A= (p.Arg390=)
6g.167341289A>CCA366424451TTLL2c.1389A>C (p.Arg463Ser)
c.1170A>C (p.Arg390Ser)
dbSNP gnomAD v3 gnomAD v4
6g.167341289A>GCA453305089TTLL2c.1389A>G (p.Arg463=)
c.1170A>G (p.Arg390=)
6g.167341289A>TCA366424450TTLL2c.1389A>T (p.Arg463Ser)
c.1170A>T (p.Arg390Ser)
6g.167341290A=CA1680342044TTLL2c.1390A= (p.Met464=)
c.1171A= (p.Met391=)
6g.167341290A>CCA4097529TTLL2c.1390A>C (p.Met464Leu)
c.1171A>C (p.Met391Leu)
dbSNP ExAC gnomAD v2
6g.167341290A>GCA4097530TTLL2c.1390A>G (p.Met464Val)
c.1171A>G (p.Met391Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.167341290A>TCA366424452TTLL2c.1390A>T (p.Met464Leu)
c.1171A>T (p.Met391Leu)
6g.167341291T>ACA366424453TTLL2c.1391T>A (p.Met464Lys)
c.1172T>A (p.Met391Lys)
6g.167341291T>CCA366424454TTLL2c.1391T>C (p.Met464Thr)
c.1172T>C (p.Met391Thr)
gnomAD v4
6g.167341291T>GCA366424455TTLL2c.1391T>G (p.Met464Arg)
c.1172T>G (p.Met391Arg)
dbSNP
6g.167341291T=CA1680342045TTLL2c.1391T= (p.Met464=)
c.1172T= (p.Met391=)
6g.167341292G>ACA366424456TTLL2c.1392G>A (p.Met464Ile)
c.1173G>A (p.Met391Ile)
dbSNP gnomAD v4
6g.167341292G>CCA366424457TTLL2c.1392G>C (p.Met464Ile)
c.1173G>C (p.Met391Ile)
6g.167341292G=CA1680342046TTLL2c.1392G= (p.Met464=)
c.1173G= (p.Met391=)
6g.167341292G>TCA366424458TTLL2c.1392G>T (p.Met464Ile)
c.1173G>T (p.Met391Ile)
gnomAD v4
6g.167341293T>ACA366424459TTLL2c.1393T>A (p.Tyr465Asn)
c.1174T>A (p.Tyr392Asn)
6g.167341293T>CCA366424460TTLL2c.1393T>C (p.Tyr465His)
c.1174T>C (p.Tyr392His)
gnomAD v4
6g.167341293T>GCA366424461TTLL2c.1393T>G (p.Tyr465Asp)
c.1174T>G (p.Tyr392Asp)
6g.167341294A>CCA366424464TTLL2c.1394A>C (p.Tyr465Ser)
c.1175A>C (p.Tyr392Ser)
6g.167341294A>GCA366424463TTLL2c.1394A>G (p.Tyr465Cys)
c.1175A>G (p.Tyr392Cys)
6g.167341294A>TCA366424462TTLL2c.1394A>T (p.Tyr465Phe)
c.1175A>T (p.Tyr392Phe)
6g.167341295C>ACA366424465TTLL2c.1395C>A (p.Tyr465Ter)
c.1176C>A (p.Tyr392Ter)
6g.167341295C=CA1680342047TTLL2c.1395C= (p.Tyr465=)
c.1176C= (p.Tyr392=)
6g.167341295C>GCA366424466TTLL2c.1395C>G (p.Tyr465Ter)
c.1176C>G (p.Tyr392Ter)
6g.167341295C>TCA4097531TTLL2c.1395C>T (p.Tyr465=)
c.1176C>T (p.Tyr392=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.167341296A=CA1680342048TTLL2c.1396A= (p.Asn466=)
c.1177A= (p.Asn393=)
6g.167341296A>CCA366424467TTLL2c.1396A>C (p.Asn466His)
c.1177A>C (p.Asn393His)
dbSNP gnomAD v2 gnomAD v4
6g.167341296A>GCA366424468TTLL2c.1396A>G (p.Asn466Asp)
c.1177A>G (p.Asn393Asp)
dbSNP
6g.167341296A>TCA366424469TTLL2c.1396A>T (p.Asn466Tyr)
c.1177A>T (p.Asn393Tyr)
6g.167341297A>CCA366424470TTLL2c.1397A>C (p.Asn466Thr)
c.1178A>C (p.Asn393Thr)
6g.167341297A>GCA366424471TTLL2c.1397A>G (p.Asn466Ser)
c.1178A>G (p.Asn393Ser)
6g.167341297A>TCA366424472TTLL2c.1397A>T (p.Asn466Ile)
c.1178A>T (p.Asn393Ile)
6g.167341298C>ACA366424473TTLL2c.1398C>A (p.Asn466Lys)
c.1179C>A (p.Asn393Lys)
6g.167341298C=CA1680342049TTLL2c.1398C= (p.Asn466=)
c.1179C= (p.Asn393=)
6g.167341298C>GCA366424474TTLL2c.1398C>G (p.Asn466Lys)
c.1179C>G (p.Asn393Lys)
6g.167341298C>TCA4097532TTLL2c.1398C>T (p.Asn466=)
c.1179C>T (p.Asn393=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341299G>ACA4097533TTLL2c.1399G>A (p.Glu467Lys)
c.1180G>A (p.Glu394Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.167341299G>CCA366424475TTLL2c.1399G>C (p.Glu467Gln)
c.1180G>C (p.Glu394Gln)
dbSNP gnomAD v3 gnomAD v4
6g.167341299G=CA1680342050TTLL2c.1399G= (p.Glu467=)
c.1180G= (p.Glu394=)
6g.167341299G>TCA366424476TTLL2c.1399G>T (p.Glu467Ter)
c.1180G>T (p.Glu394Ter)
6g.167341300A>CCA366424477TTLL2c.1400A>C (p.Glu467Ala)
c.1181A>C (p.Glu394Ala)
6g.167341300A>GCA366424479TTLL2c.1400A>G (p.Glu467Gly)
c.1181A>G (p.Glu394Gly)
6g.167341300A>TCA366424478TTLL2c.1400A>T (p.Glu467Val)
c.1181A>T (p.Glu394Val)
6g.167341301G>ACA453305090TTLL2c.1401G>A (p.Glu467=)
c.1182G>A (p.Glu394=)
gnomAD v4
6g.167341301G>CCA366424480TTLL2c.1401G>C (p.Glu467Asp)
c.1182G>C (p.Glu394Asp)
6g.167341301G>TCA366424481TTLL2c.1401G>T (p.Glu467Asp)
c.1182G>T (p.Glu394Asp)
6g.167341302G>ACA366424482TTLL2c.1402G>A (p.Asp468Asn)
c.1183G>A (p.Asp395Asn)
dbSNP
6g.167341302G>CCA366424483TTLL2c.1402G>C (p.Asp468His)
c.1183G>C (p.Asp395His)
6g.167341302G=CA1680342051TTLL2c.1402G= (p.Asp468=)
c.1183G= (p.Asp395=)
6g.167341302G>TCA366424484TTLL2c.1402G>T (p.Asp468Tyr)
c.1183G>T (p.Asp395Tyr)
dbSNP
6g.167341303A>CCA366424485TTLL2c.1403A>C (p.Asp468Ala)
c.1184A>C (p.Asp395Ala)
6g.167341303A>GCA366424486TTLL2c.1403A>G (p.Asp468Gly)
c.1184A>G (p.Asp395Gly)
6g.167341303A>TCA366424487TTLL2c.1403A>T (p.Asp468Val)
c.1184A>T (p.Asp395Val)
6g.167341304T>ACA366424488TTLL2c.1404T>A (p.Asp468Glu)
c.1185T>A (p.Asp395Glu)
6g.167341304T>CCA453305091TTLL2c.1404T>C (p.Asp468=)
c.1185T>C (p.Asp395=)
6g.167341304T>GCA366424489TTLL2c.1404T>G (p.Asp468Glu)
c.1185T>G (p.Asp395Glu)
6g.167341305G>ACA366424491TTLL2c.1405G>A (p.Asp469Asn)
c.1186G>A (p.Asp396Asn)
6g.167341305G>CCA366424492TTLL2c.1405G>C (p.Asp469His)
c.1186G>C (p.Asp396His)
6g.167341305G>TCA366424490TTLL2c.1405G>T (p.Asp469Tyr)
c.1186G>T (p.Asp396Tyr)
gnomAD v4
6g.167341306A>CCA366424493TTLL2c.1406A>C (p.Asp469Ala)
c.1187A>C (p.Asp396Ala)
6g.167341306A>GCA366424494TTLL2c.1406A>G (p.Asp469Gly)
c.1187A>G (p.Asp396Gly)
6g.167341306A>TCA366424495TTLL2c.1406A>T (p.Asp469Val)
c.1187A>T (p.Asp396Val)
6g.167341306_167341308delinsACTCA1680342052TTLL2c.1406_1408delinsACT (p.Asp469=)
c.1187_1189delinsACT (p.Asp396=)
6g.167341307C>ACA366424496TTLL2c.1407C>A (p.Asp469Glu)
c.1188C>A (p.Asp396Glu)
6g.167341307C>GCA366424497TTLL2c.1407C>G (p.Asp469Glu)
c.1188C>G (p.Asp396Glu)
6g.167341307C>TCA453305092TTLL2c.1407C>T (p.Asp469=)
c.1188C>T (p.Asp396=)
6g.167341309_167341310delCA1680342053TTLL2c.1409_1410del (p.Ser470CysfsTer11)
c.1190_1191del (p.Ser397CysfsTer11)
dbSNP gnomAD v4
6g.167341308T>ACA366424500TTLL2c.1408T>A (p.Ser470Thr)
c.1189T>A (p.Ser397Thr)
6g.167341308T>CCA366424499TTLL2c.1408T>C (p.Ser470Pro)
c.1189T>C (p.Ser397Pro)
gnomAD v4
6g.167341308T>GCA366424498TTLL2c.1408T>G (p.Ser470Ala)
c.1189T>G (p.Ser397Ala)
6g.167341309C>ACA366424501TTLL2c.1409C>A (p.Ser470Tyr)
c.1190C>A (p.Ser397Tyr)
6g.167341309C>GCA366424502TTLL2c.1409C>G (p.Ser470Cys)
c.1190C>G (p.Ser397Cys)
6g.167341309C>TCA366424503TTLL2c.1409C>T (p.Ser470Phe)
c.1190C>T (p.Ser397Phe)
6g.167341310T>ACA453305094TTLL2c.1410T>A (p.Ser470=)
c.1191T>A (p.Ser397=)
6g.167341310T>CCA453305095TTLL2c.1410T>C (p.Ser470=)
c.1191T>C (p.Ser397=)
6g.167341310T>GCA453305096TTLL2c.1410T>G (p.Ser470=)
c.1191T>G (p.Ser397=)
6g.167341311G>ACA366424504TTLL2c.1411G>A (p.Val471Met)
c.1192G>A (p.Val398Met)
6g.167341311G>CCA366424505TTLL2c.1411G>C (p.Val471Leu)
c.1192G>C (p.Val398Leu)
6g.167341311G>TCA366424506TTLL2c.1411G>T (p.Val471Leu)
c.1192G>T (p.Val398Leu)
6g.167341312T>ACA366424507TTLL2c.1412T>A (p.Val471Glu)
c.1193T>A (p.Val398Glu)
dbSNP gnomAD v3 gnomAD v4
6g.167341312T>CCA4097534TTLL2c.1412T>C (p.Val471Ala)
c.1193T>C (p.Val398Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.167341312T>GCA366424508TTLL2c.1412T>G (p.Val471Gly)
c.1193T>G (p.Val398Gly)
6g.167341312T=CA1680342054TTLL2c.1412T= (p.Val471=)
c.1193T= (p.Val398=)
6g.167341313G>ACA453305097TTLL2c.1413G>A (p.Val471=)
c.1194G>A (p.Val398=)
dbSNP gnomAD v4 COSMIC
6g.167341313G>CCA453305098TTLL2c.1413G>C (p.Val471=)
c.1194G>C (p.Val398=)
6g.167341313G=CA1680342055TTLL2c.1413G= (p.Val471=)
c.1194G= (p.Val398=)
6g.167341313G>TCA453305099TTLL2c.1413G>T (p.Val471=)
c.1194G>T (p.Val398=)
dbSNP gnomAD v4
6g.167341314G>ACA366424509TTLL2c.1414G>A (p.Val472Met)
c.1195G>A (p.Val399Met)
6g.167341314G>CCA366424510TTLL2c.1414G>C (p.Val472Leu)
c.1195G>C (p.Val399Leu)
6g.167341314G>TCA366424511TTLL2c.1414G>T (p.Val472Leu)
c.1195G>T (p.Val399Leu)
gnomAD v4
6g.167341315T>ACA366424512TTLL2c.1415T>A (p.Val472Glu)
c.1196T>A (p.Val399Glu)
6g.167341315T>CCA366424513TTLL2c.1415T>C (p.Val472Ala)
c.1196T>C (p.Val399Ala)
6g.167341315T>GCA366424514TTLL2c.1415T>G (p.Val472Gly)
c.1196T>G (p.Val399Gly)
6g.167341316G>ACA453305101TTLL2c.1416G>A (p.Val472=)
c.1197G>A (p.Val399=)
dbSNP gnomAD v2 gnomAD v4
6g.167341316G>CCA453305102TTLL2c.1416G>C (p.Val472=)
c.1197G>C (p.Val399=)
dbSNP
6g.167341316G=CA1680342056TTLL2c.1416G= (p.Val472=)
c.1197G= (p.Val399=)
6g.167341316G>TCA4097535TTLL2c.1416G>T (p.Val472=)
c.1197G>T (p.Val399=)
dbSNP ExAC gnomAD v2
6g.167341317G>ACA366424515TTLL2c.1417G>A (p.Glu473Lys)
c.1198G>A (p.Glu400Lys)
6g.167341317G>CCA366424516TTLL2c.1417G>C (p.Glu473Gln)
c.1198G>C (p.Glu400Gln)
dbSNP
6g.167341317G=CA1680342057TTLL2c.1417G= (p.Glu473=)
c.1198G= (p.Glu400=)
6g.167341317G>TCA366424517TTLL2c.1417G>T (p.Glu473Ter)
c.1198G>T (p.Glu400Ter)
6g.167341318A>CCA366424518TTLL2c.1418A>C (p.Glu473Ala)
c.1199A>C (p.Glu400Ala)
6g.167341318A>GCA366424519TTLL2c.1418A>G (p.Glu473Gly)
c.1199A>G (p.Glu400Gly)
6g.167341318A>TCA366424520TTLL2c.1418A>T (p.Glu473Val)
c.1199A>T (p.Glu400Val)
6g.167341319G>ACA453305103TTLL2c.1419G>A (p.Glu473=)
c.1200G>A (p.Glu400=)
gnomAD v4
6g.167341319G>CCA366424521TTLL2c.1419G>C (p.Glu473Asp)
c.1200G>C (p.Glu400Asp)
6g.167341319G>TCA366424522TTLL2c.1419G>T (p.Glu473Asp)
c.1200G>T (p.Glu400Asp)
6g.167341320A>CCA366424523TTLL2c.1420A>C (p.Lys474Gln)
c.1201A>C (p.Lys401Gln)
6g.167341320A>GCA366424524TTLL2c.1420A>G (p.Lys474Glu)
c.1201A>G (p.Lys401Glu)
6g.167341320A>TCA366424525TTLL2c.1420A>T (p.Lys474Ter)
c.1201A>T (p.Lys401Ter)
6g.167341321A>CCA366424526TTLL2c.1421A>C (p.Lys474Thr)
c.1202A>C (p.Lys401Thr)
6g.167341321A>GCA366424527TTLL2c.1421A>G (p.Lys474Arg)
c.1202A>G (p.Lys401Arg)
6g.167341321A>TCA366424528TTLL2c.1421A>T (p.Lys474Ile)
c.1202A>T (p.Lys401Ile)
6g.167341322A>CCA366424529TTLL2c.1422A>C (p.Lys474Asn)
c.1203A>C (p.Lys401Asn)
6g.167341322A>GCA453305104TTLL2c.1422A>G (p.Lys474=)
c.1203A>G (p.Lys401=)
6g.167341322A>TCA366424530TTLL2c.1422A>T (p.Lys474Asn)
c.1203A>T (p.Lys401Asn)
6g.167341323G>ACA366424531TTLL2c.1423G>A (p.Ala475Thr)
c.1204G>A (p.Ala402Thr)
gnomAD v4
6g.167341323G>CCA366424533TTLL2c.1423G>C (p.Ala475Pro)
c.1204G>C (p.Ala402Pro)
dbSNP
6g.167341323G>TCA366424532TTLL2c.1423G>T (p.Ala475Ser)
c.1204G>T (p.Ala402Ser)
6g.167341324C>ACA366424534TTLL2c.1424C>A (p.Ala475Asp)
c.1205C>A (p.Ala402Asp)
6g.167341324C>GCA366424535TTLL2c.1424C>G (p.Ala475Gly)
c.1205C>G (p.Ala402Gly)
6g.167341324C>TCA366424536TTLL2c.1424C>T (p.Ala475Val)
c.1205C>T (p.Ala402Val)
gnomAD v4
6g.167341325T>ACA453305105TTLL2c.1425T>A (p.Ala475=)
c.1206T>A (p.Ala402=)
6g.167341325T>CCA151970354TTLL2c.1425T>C (p.Ala475=)
c.1206T>C (p.Ala402=)
dbSNP
6g.167341325T>GCA453305106TTLL2c.1425T>G (p.Ala475=)
c.1206T>G (p.Ala402=)
6g.167341325T=CA1680342058TTLL2c.1425T= (p.Ala475=)
c.1206T= (p.Ala402=)
6g.167341326G>ACA366424537TTLL2c.1426G>A (p.Val476Met)
c.1207G>A (p.Val403Met)
6g.167341326G>CCA366424539TTLL2c.1426G>C (p.Val476Leu)
c.1207G>C (p.Val403Leu)
6g.167341326G>TCA366424538TTLL2c.1426G>T (p.Val476Leu)
c.1207G>T (p.Val403Leu)
6g.167341327T>ACA366424540TTLL2c.1427T>A (p.Val476Glu)
c.1208T>A (p.Val403Glu)
6g.167341327T>CCA366424541TTLL2c.1427T>C (p.Val476Ala)
c.1208T>C (p.Val403Ala)
6g.167341327T>GCA366424542TTLL2c.1427T>G (p.Val476Gly)
c.1208T>G (p.Val403Gly)
6g.167341327dupCA2681211345TTLL2c.1427dup (p.Ser477GlufsTer5)
c.1208dup (p.Ser404GlufsTer5)
gnomAD v4
6g.167341328G>ACA453305107TTLL2c.1428G>A (p.Val476=)
c.1209G>A (p.Val403=)
6g.167341328G>CCA4097536TTLL2c.1428G>C (p.Val476=)
c.1209G>C (p.Val403=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.167341328G=CA1680342059TTLL2c.1428G= (p.Val476=)
c.1209G= (p.Val403=)
6g.167341328G>TCA453305108TTLL2c.1428G>T (p.Val476=)
c.1209G>T (p.Val403=)
6g.167341329A>CCA366424543TTLL2c.1429A>C (p.Ser477Arg)
c.1210A>C (p.Ser404Arg)
6g.167341329A>GCA366424544TTLL2c.1429A>G (p.Ser477Gly)
c.1210A>G (p.Ser404Gly)
6g.167341329A>TCA366424545TTLL2c.1429A>T (p.Ser477Cys)
c.1210A>T (p.Ser404Cys)
6g.167341330G>ACA366424546TTLL2c.1430G>A (p.Ser477Asn)
c.1211G>A (p.Ser404Asn)
6g.167341330G>CCA366424547TTLL2c.1430G>C (p.Ser477Thr)
c.1211G>C (p.Ser404Thr)
dbSNP gnomAD v2 gnomAD v4
6g.167341330G=CA1680342060TTLL2c.1430G= (p.Ser477=)
c.1211G= (p.Ser404=)
6g.167341330G>TCA366424548TTLL2c.1430G>T (p.Ser477Ile)
c.1211G>T (p.Ser404Ile)
6g.167341331T>ACA366424549TTLL2c.1431T>A (p.Ser477Arg)
c.1212T>A (p.Ser404Arg)
dbSNP gnomAD v3 gnomAD v4
6g.167341331T>CCA453305109TTLL2c.1431T>C (p.Ser477=)
c.1212T>C (p.Ser404=)
6g.167341331T>GCA366424550TTLL2c.1431T>G (p.Ser477Arg)
c.1212T>G (p.Ser404Arg)
6g.167341331T=CA1680342061TTLL2c.1431T= (p.Ser477=)
c.1212T= (p.Ser404=)
6g.167341332G>ACA4097537TTLL2c.1432G>A (p.Val478Met)
c.1213G>A (p.Val405Met)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.167341332G>CCA366424551TTLL2c.1432G>C (p.Val478Leu)
c.1213G>C (p.Val405Leu)
6g.167341332G=CA1680342062TTLL2c.1432G= (p.Val478=)
c.1213G= (p.Val405=)
6g.167341332G>TCA366424552TTLL2c.1432G>T (p.Val478Leu)
c.1213G>T (p.Val405Leu)
6g.167341333T>ACA366424553TTLL2c.1433T>A (p.Val478Glu)
c.1214T>A (p.Val405Glu)
6g.167341333T>CCA366424554TTLL2c.1433T>C (p.Val478Ala)
c.1214T>C (p.Val405Ala)
6g.167341333T>GCA366424555TTLL2c.1433T>G (p.Val478Gly)
c.1214T>G (p.Val405Gly)
6g.167341334G>ACA453305110TTLL2c.1434G>A (p.Val478=)
c.1215G>A (p.Val405=)
6g.167341334G>CCA453305111TTLL2c.1434G>C (p.Val478=)
c.1215G>C (p.Val405=)
6g.167341334G>TCA453305112TTLL2c.1434G>T (p.Val478=)
c.1215G>T (p.Val405=)
6g.167341335C>ACA366424556TTLL2c.1435C>A (p.Arg479Ser)
c.1216C>A (p.Arg406Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.167341335C=CA1680342063TTLL2c.1435C= (p.Arg479=)
c.1216C= (p.Arg406=)
6g.167341335C>GCA151970369TTLL2c.1435C>G (p.Arg479Gly)
c.1216C>G (p.Arg406Gly)
dbSNP gnomAD v3 gnomAD v4
6g.167341335C>TCA4097538TTLL2c.1435C>T (p.Arg479Cys)
c.1216C>T (p.Arg406Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341336G>ACA4097539TTLL2c.1436G>A (p.Arg479His)
c.1217G>A (p.Arg406His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341336G>CCA366424558TTLL2c.1436G>C (p.Arg479Pro)
c.1217G>C (p.Arg406Pro)
6g.167341336G=CA1680342064TTLL2c.1436G= (p.Arg479=)
c.1217G= (p.Arg406=)
6g.167341336G>TCA366424557TTLL2c.1436G>T (p.Arg479Leu)
c.1217G>T (p.Arg406Leu)
6g.167341337T>ACA453305116TTLL2c.1437T>A (p.Arg479=)
c.1218T>A (p.Arg406=)
dbSNP gnomAD v3 gnomAD v4
6g.167341337T>CCA453305115TTLL2c.1437T>C (p.Arg479=)
c.1218T>C (p.Arg406=)
gnomAD v4
6g.167341337T>GCA453305114TTLL2c.1437T>G (p.Arg479=)
c.1218T>G (p.Arg406=)
6g.167341337T=CA1680342065TTLL2c.1437T= (p.Arg479=)
c.1218T= (p.Arg406=)
6g.167341338C>ACA366424559TTLL2c.1438C>A (p.Pro480Thr)
c.1219C>A (p.Pro407Thr)
6g.167341338C>GCA366424560TTLL2c.1438C>G (p.Pro480Ala)
c.1219C>G (p.Pro407Ala)
6g.167341338C>TCA366424561TTLL2c.1438C>T (p.Pro480Ser)
c.1219C>T (p.Pro407Ser)
6g.167341339delCA2681211346TTLL2c.1439del (p.Pro480LeufsTer13)
c.1220del (p.Pro407LeufsTer13)
gnomAD v4
6g.167341339C>ACA366424562TTLL2c.1439C>A (p.Pro480His)
c.1220C>A (p.Pro407His)
6g.167341339C>GCA366424563TTLL2c.1439C>G (p.Pro480Arg)
c.1220C>G (p.Pro407Arg)
6g.167341339C>TCA366424564TTLL2c.1439C>T (p.Pro480Leu)
c.1220C>T (p.Pro407Leu)
6g.167341340T>ACA453305119TTLL2c.1440T>A (p.Pro480=)
c.1221T>A (p.Pro407=)
6g.167341340T>CCA453305118TTLL2c.1440T>C (p.Pro480=)
c.1221T>C (p.Pro407=)
gnomAD v4
6g.167341340T>GCA453305117TTLL2c.1440T>G (p.Pro480=)
c.1221T>G (p.Pro407=)
6g.167341341G>ACA366424565TTLL2c.1441G>A (p.Glu481Lys)
c.1222G>A (p.Glu408Lys)
dbSNP gnomAD v2
6g.167341341G>CCA366424567TTLL2c.1441G>C (p.Glu481Gln)
c.1222G>C (p.Glu408Gln)
6g.167341341G=CA1680342066TTLL2c.1441G= (p.Glu481=)
c.1222G= (p.Glu408=)
6g.167341341G>TCA366424566TTLL2c.1441G>T (p.Glu481Ter)
c.1222G>T (p.Glu408Ter)
6g.167341342A>CCA366424568TTLL2c.1442A>C (p.Glu481Ala)
c.1223A>C (p.Glu408Ala)
6g.167341342A>GCA366424569TTLL2c.1442A>G (p.Glu481Gly)
c.1223A>G (p.Glu408Gly)
6g.167341342A>TCA366424570TTLL2c.1442A>T (p.Glu481Val)
c.1223A>T (p.Glu408Val)
6g.167341343A=CA1680342067TTLL2c.1443A= (p.Glu481=)
c.1224A= (p.Glu408=)
6g.167341343A>CCA366424571TTLL2c.1443A>C (p.Glu481Asp)
c.1224A>C (p.Glu408Asp)
6g.167341343A>GCA453305121TTLL2c.1443A>G (p.Glu481=)
c.1224A>G (p.Glu408=)
dbSNP gnomAD v4
6g.167341343A>TCA366424572TTLL2c.1443A>T (p.Glu481Asp)
c.1224A>T (p.Glu408Asp)
6g.167341344G>ACA366424573TTLL2c.1444G>A (p.Ala482Thr)
c.1225G>A (p.Ala409Thr)
gnomAD v4
6g.167341344G>CCA366424574TTLL2c.1444G>C (p.Ala482Pro)
c.1225G>C (p.Ala409Pro)
6g.167341344G>TCA366424575TTLL2c.1444G>T (p.Ala482Ser)
c.1225G>T (p.Ala409Ser)
6g.167341345C>ACA366424576TTLL2c.1445C>A (p.Ala482Asp)
c.1226C>A (p.Ala409Asp)
6g.167341345C=CA1680342068TTLL2c.1445C= (p.Ala482=)
c.1226C= (p.Ala409=)
6g.167341345C>GCA366424577TTLL2c.1445C>G (p.Ala482Gly)
c.1226C>G (p.Ala409Gly)
6g.167341345C>TCA366424578TTLL2c.1445C>T (p.Ala482Val)
c.1226C>T (p.Ala409Val)
dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.167341346T>ACA453305122TTLL2c.1446T>A (p.Ala482=)
c.1227T>A (p.Ala409=)
6g.167341346T>CCA453305123TTLL2c.1446T>C (p.Ala482=)
c.1227T>C (p.Ala409=)
6g.167341346T>GCA453305124TTLL2c.1446T>G (p.Ala482=)
c.1227T>G (p.Ala409=)
6g.167341347G>ACA366424581TTLL2c.1447G>A (p.Ala483Thr)
c.1228G>A (p.Ala410Thr)
gnomAD v4
6g.167341347G>CCA366424579TTLL2c.1447G>C (p.Ala483Pro)
c.1228G>C (p.Ala410Pro)
6g.167341347G>TCA366424580TTLL2c.1447G>T (p.Ala483Ser)
c.1228G>T (p.Ala410Ser)
6g.167341348C>ACA366424582TTLL2c.1448C>A (p.Ala483Glu)
c.1229C>A (p.Ala410Glu)
6g.167341348C=CA1680342069TTLL2c.1448C= (p.Ala483=)
c.1229C= (p.Ala410=)
6g.167341348C>GCA366424583TTLL2c.1448C>G (p.Ala483Gly)
c.1229C>G (p.Ala410Gly)
6g.167341348C>TCA4097540TTLL2c.1448C>T (p.Ala483Val)
c.1229C>T (p.Ala410Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.167341349A=CA1680342070TTLL2c.1449A= (p.Ala483=)
c.1230A= (p.Ala410=)
6g.167341349A>CCA453305126TTLL2c.1449A>C (p.Ala483=)
c.1230A>C (p.Ala410=)
dbSNP
6g.167341349A>GCA4097541TTLL2c.1449A>G (p.Ala483=)
c.1230A>G (p.Ala410=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341349A>TCA453305127TTLL2c.1449A>T (p.Ala483=)
c.1230A>T (p.Ala410=)
COSMIC
6g.167341350C>ACA151970400TTLL2c.1450C>A (p.Pro484Thr)
c.1231C>A (p.Pro411Thr)
dbSNP gnomAD v3 gnomAD v4
6g.167341350C=CA1680342071TTLL2c.1450C= (p.Pro484=)
c.1231C= (p.Pro411=)
6g.167341350C>GCA366424584TTLL2c.1450C>G (p.Pro484Ala)
c.1231C>G (p.Pro411Ala)
6g.167341350C>TCA4097542TTLL2c.1450C>T (p.Pro484Ser)
c.1231C>T (p.Pro411Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341351C>ACA366424585TTLL2c.1451C>A (p.Pro484His)
c.1232C>A (p.Pro411His)
6g.167341351C=CA1680342072TTLL2c.1451C= (p.Pro484=)
c.1232C= (p.Pro411=)
6g.167341351C>GCA366424586TTLL2c.1451C>G (p.Pro484Arg)
c.1232C>G (p.Pro411Arg)
6g.167341351C>TCA4097543TTLL2c.1451C>T (p.Pro484Leu)
c.1232C>T (p.Pro411Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched