Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.42777112A>CCA392015328TTBK2c.1328T>G (p.Leu443Ter)
c.1223T>G (p.Leu408Ter)
c.2543T>G (p.Leu848Ter)
c.1346T>G (p.Leu449Ter)
c.1121T>G (p.Leu374Ter)
c.1313T>G (p.Leu438Ter)
c.1061T>G (p.Leu354Ter)
c.1049T>G (p.Leu350Ter)
15g.42777112A>GCA392015331TTBK2c.1328T>C (p.Leu443Ser)
c.1223T>C (p.Leu408Ser)
c.2543T>C (p.Leu848Ser)
c.1346T>C (p.Leu449Ser)
c.1121T>C (p.Leu374Ser)
c.1313T>C (p.Leu438Ser)
c.1061T>C (p.Leu354Ser)
c.1049T>C (p.Leu350Ser)
15g.42777112A>TCA392015336TTBK2c.1328T>A (p.Leu443Ter)
c.1223T>A (p.Leu408Ter)
c.2543T>A (p.Leu848Ter)
c.1346T>A (p.Leu449Ter)
c.1121T>A (p.Leu374Ter)
c.1313T>A (p.Leu438Ter)
c.1061T>A (p.Leu354Ter)
c.1049T>A (p.Leu350Ter)
15g.42777113A=CA2172895260TTBK2c.1327T= (p.Leu443=)
c.1222T= (p.Leu408=)
c.2542T= (p.Leu848=)
c.1345T= (p.Leu449=)
c.1120T= (p.Leu374=)
c.1312T= (p.Leu438=)
c.1060T= (p.Leu354=)
c.1048T= (p.Leu350=)
15g.42777113A>CCA392015339TTBK2c.1327T>G (p.Leu443Val)
c.1222T>G (p.Leu408Val)
c.2542T>G (p.Leu848Val)
c.1345T>G (p.Leu449Val)
c.1120T>G (p.Leu374Val)
c.1312T>G (p.Leu438Val)
c.1060T>G (p.Leu354Val)
c.1048T>G (p.Leu350Val)
COSMIC
15g.42777113A>GCA489892960TTBK2c.1327T>C (p.Leu443=)
c.1222T>C (p.Leu408=)
c.2542T>C (p.Leu848=)
c.1345T>C (p.Leu449=)
c.1120T>C (p.Leu374=)
c.1312T>C (p.Leu438=)
c.1060T>C (p.Leu354=)
c.1048T>C (p.Leu350=)
gnomAD v4
15g.42777113A>TCA392015343TTBK2c.1327T>A (p.Leu443Ile)
c.1222T>A (p.Leu408Ile)
c.2542T>A (p.Leu848Ile)
c.1345T>A (p.Leu449Ile)
c.1120T>A (p.Leu374Ile)
c.1312T>A (p.Leu438Ile)
c.1060T>A (p.Leu354Ile)
c.1048T>A (p.Leu350Ile)
dbSNP gnomAD v2 gnomAD v4
15g.42777114C>ACA392015346TTBK2c.1326G>T (p.Lys442Asn)
c.1221G>T (p.Lys407Asn)
c.2541G>T (p.Lys847Asn)
c.1344G>T (p.Lys448Asn)
c.1119G>T (p.Lys373Asn)
c.1311G>T (p.Lys437Asn)
c.1059G>T (p.Lys353Asn)
c.1047G>T (p.Lys349Asn)
15g.42777114C=CA2172895264TTBK2c.1326G= (p.Lys442=)
c.1221G= (p.Lys407=)
c.2541G= (p.Lys847=)
c.1344G= (p.Lys448=)
c.1119G= (p.Lys373=)
c.1311G= (p.Lys437=)
c.1059G= (p.Lys353=)
c.1047G= (p.Lys349=)
15g.42777114C>GCA7516912TTBK2c.1326G>C (p.Lys442Asn)
c.1221G>C (p.Lys407Asn)
c.2541G>C (p.Lys847Asn)
c.1344G>C (p.Lys448Asn)
c.1119G>C (p.Lys373Asn)
c.1311G>C (p.Lys437Asn)
c.1059G>C (p.Lys353Asn)
c.1047G>C (p.Lys349Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777114C>TCA489892961TTBK2c.1326G>A (p.Lys442=)
c.1221G>A (p.Lys407=)
c.2541G>A (p.Lys847=)
c.1344G>A (p.Lys448=)
c.1119G>A (p.Lys373=)
c.1311G>A (p.Lys437=)
c.1059G>A (p.Lys353=)
c.1047G>A (p.Lys349=)
15g.42777115T>ACA392015351TTBK2c.1325A>T (p.Lys442Met)
c.1220A>T (p.Lys407Met)
c.2540A>T (p.Lys847Met)
c.1343A>T (p.Lys448Met)
c.1118A>T (p.Lys373Met)
c.1310A>T (p.Lys437Met)
c.1058A>T (p.Lys353Met)
c.1046A>T (p.Lys349Met)
15g.42777115T>CCA392015354TTBK2c.1325A>G (p.Lys442Arg)
c.1220A>G (p.Lys407Arg)
c.2540A>G (p.Lys847Arg)
c.1343A>G (p.Lys448Arg)
c.1118A>G (p.Lys373Arg)
c.1310A>G (p.Lys437Arg)
c.1058A>G (p.Lys353Arg)
c.1046A>G (p.Lys349Arg)
15g.42777115T>GCA392015352TTBK2c.1325A>C (p.Lys442Thr)
c.1220A>C (p.Lys407Thr)
c.2540A>C (p.Lys847Thr)
c.1343A>C (p.Lys448Thr)
c.1118A>C (p.Lys373Thr)
c.1310A>C (p.Lys437Thr)
c.1058A>C (p.Lys353Thr)
c.1046A>C (p.Lys349Thr)
15g.42777116T>ACA392015357TTBK2c.1324A>T (p.Lys442Ter)
c.1219A>T (p.Lys407Ter)
c.2539A>T (p.Lys847Ter)
c.1342A>T (p.Lys448Ter)
c.1117A>T (p.Lys373Ter)
c.1309A>T (p.Lys437Ter)
c.1057A>T (p.Lys353Ter)
c.1045A>T (p.Lys349Ter)
15g.42777116T>CCA392015359TTBK2c.1324A>G (p.Lys442Glu)
c.1219A>G (p.Lys407Glu)
c.2539A>G (p.Lys847Glu)
c.1342A>G (p.Lys448Glu)
c.1117A>G (p.Lys373Glu)
c.1309A>G (p.Lys437Glu)
c.1057A>G (p.Lys353Glu)
c.1045A>G (p.Lys349Glu)
15g.42777116T>GCA392015360TTBK2c.1324A>C (p.Lys442Gln)
c.1219A>C (p.Lys407Gln)
c.2539A>C (p.Lys847Gln)
c.1342A>C (p.Lys448Gln)
c.1117A>C (p.Lys373Gln)
c.1309A>C (p.Lys437Gln)
c.1057A>C (p.Lys353Gln)
c.1045A>C (p.Lys349Gln)
ClinVar
15g.42777117T>ACA489892962TTBK2c.1323A>T (p.Arg441=)
c.1218A>T (p.Arg406=)
c.2538A>T (p.Arg846=)
c.1341A>T (p.Arg447=)
c.1116A>T (p.Arg372=)
c.1308A>T (p.Arg436=)
c.1056A>T (p.Arg352=)
c.1044A>T (p.Arg348=)
15g.42777117T>CCA489892963TTBK2c.1323A>G (p.Arg441=)
c.1218A>G (p.Arg406=)
c.2538A>G (p.Arg846=)
c.1341A>G (p.Arg447=)
c.1116A>G (p.Arg372=)
c.1308A>G (p.Arg436=)
c.1056A>G (p.Arg352=)
c.1044A>G (p.Arg348=)
15g.42777117T>GCA489892964TTBK2c.1323A>C (p.Arg441=)
c.1218A>C (p.Arg406=)
c.2538A>C (p.Arg846=)
c.1341A>C (p.Arg447=)
c.1116A>C (p.Arg372=)
c.1308A>C (p.Arg436=)
c.1056A>C (p.Arg352=)
c.1044A>C (p.Arg348=)
15g.42777118C>ACA392015365TTBK2c.1322G>T (p.Arg441Leu)
c.1217G>T (p.Arg406Leu)
c.2537G>T (p.Arg846Leu)
c.1340G>T (p.Arg447Leu)
c.1115G>T (p.Arg372Leu)
c.1307G>T (p.Arg436Leu)
c.1055G>T (p.Arg352Leu)
c.1043G>T (p.Arg348Leu)
gnomAD v4
15g.42777118C=CA2172895268TTBK2c.1322G= (p.Arg441=)
c.1217G= (p.Arg406=)
c.2537G= (p.Arg846=)
c.1340G= (p.Arg447=)
c.1115G= (p.Arg372=)
c.1307G= (p.Arg436=)
c.1055G= (p.Arg352=)
c.1043G= (p.Arg348=)
15g.42777118C>GCA392015368TTBK2c.1322G>C (p.Arg441Pro)
c.1217G>C (p.Arg406Pro)
c.2537G>C (p.Arg846Pro)
c.1340G>C (p.Arg447Pro)
c.1115G>C (p.Arg372Pro)
c.1307G>C (p.Arg436Pro)
c.1055G>C (p.Arg352Pro)
c.1043G>C (p.Arg348Pro)
15g.42777118C>TCA7516913TTBK2c.1322G>A (p.Arg441Gln)
c.1217G>A (p.Arg406Gln)
c.2537G>A (p.Arg846Gln)
c.1340G>A (p.Arg447Gln)
c.1115G>A (p.Arg372Gln)
c.1307G>A (p.Arg436Gln)
c.1055G>A (p.Arg352Gln)
c.1043G>A (p.Arg348Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777119G>ACA7516914TTBK2c.1321C>T (p.Arg441Ter)
c.1216C>T (p.Arg406Ter)
c.2536C>T (p.Arg846Ter)
c.1339C>T (p.Arg447Ter)
c.1114C>T (p.Arg372Ter)
c.1306C>T (p.Arg436Ter)
c.1054C>T (p.Arg352Ter)
c.1042C>T (p.Arg348Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777119G>CCA392015377TTBK2c.1321C>G (p.Arg441Gly)
c.1216C>G (p.Arg406Gly)
c.2536C>G (p.Arg846Gly)
c.1339C>G (p.Arg447Gly)
c.1114C>G (p.Arg372Gly)
c.1306C>G (p.Arg436Gly)
c.1054C>G (p.Arg352Gly)
c.1042C>G (p.Arg348Gly)
dbSNP gnomAD v4
15g.42777119G=CA2172895270TTBK2c.1321C= (p.Arg441=)
c.1216C= (p.Arg406=)
c.2536C= (p.Arg846=)
c.1339C= (p.Arg447=)
c.1114C= (p.Arg372=)
c.1306C= (p.Arg436=)
c.1054C= (p.Arg352=)
c.1042C= (p.Arg348=)
15g.42777119G>TCA489892965TTBK2c.1321C>A (p.Arg441=)
c.1216C>A (p.Arg406=)
c.2536C>A (p.Arg846=)
c.1339C>A (p.Arg447=)
c.1114C>A (p.Arg372=)
c.1306C>A (p.Arg436=)
c.1054C>A (p.Arg352=)
c.1042C>A (p.Arg348=)
15g.42777120C>ACA489892966TTBK2c.1320G>T (p.Val440=)
c.1215G>T (p.Val405=)
c.2535G>T (p.Val845=)
c.1338G>T (p.Val446=)
c.1113G>T (p.Val371=)
c.1305G>T (p.Val435=)
c.1053G>T (p.Val351=)
c.1041G>T (p.Val347=)
15g.42777120C=CA2172895277TTBK2c.1320G= (p.Val440=)
c.1215G= (p.Val405=)
c.2535G= (p.Val845=)
c.1338G= (p.Val446=)
c.1113G= (p.Val371=)
c.1305G= (p.Val435=)
c.1053G= (p.Val351=)
c.1041G= (p.Val347=)
15g.42777120C>GCA489892967TTBK2c.1320G>C (p.Val440=)
c.1215G>C (p.Val405=)
c.2535G>C (p.Val845=)
c.1338G>C (p.Val446=)
c.1113G>C (p.Val371=)
c.1305G>C (p.Val435=)
c.1053G>C (p.Val351=)
c.1041G>C (p.Val347=)
15g.42777120C>TCA489892968TTBK2c.1320G>A (p.Val440=)
c.1215G>A (p.Val405=)
c.2535G>A (p.Val845=)
c.1338G>A (p.Val446=)
c.1113G>A (p.Val371=)
c.1305G>A (p.Val435=)
c.1053G>A (p.Val351=)
c.1041G>A (p.Val347=)
dbSNP gnomAD v2 gnomAD v4
15g.42777121A=CA2172895280TTBK2c.1319T= (p.Val440=)
c.1214T= (p.Val405=)
c.2534T= (p.Val845=)
c.1337T= (p.Val446=)
c.1112T= (p.Val371=)
c.1304T= (p.Val435=)
c.1052T= (p.Val351=)
c.1040T= (p.Val347=)
15g.42777121A>CCA392015381TTBK2c.1319T>G (p.Val440Gly)
c.1214T>G (p.Val405Gly)
c.2534T>G (p.Val845Gly)
c.1337T>G (p.Val446Gly)
c.1112T>G (p.Val371Gly)
c.1304T>G (p.Val435Gly)
c.1052T>G (p.Val351Gly)
c.1040T>G (p.Val347Gly)
ClinVar dbSNP gnomAD v4
15g.42777121A>GCA392015384TTBK2c.1319T>C (p.Val440Ala)
c.1214T>C (p.Val405Ala)
c.2534T>C (p.Val845Ala)
c.1337T>C (p.Val446Ala)
c.1112T>C (p.Val371Ala)
c.1304T>C (p.Val435Ala)
c.1052T>C (p.Val351Ala)
c.1040T>C (p.Val347Ala)
15g.42777121A>TCA392015387TTBK2c.1319T>A (p.Val440Glu)
c.1214T>A (p.Val405Glu)
c.2534T>A (p.Val845Glu)
c.1337T>A (p.Val446Glu)
c.1112T>A (p.Val371Glu)
c.1304T>A (p.Val435Glu)
c.1052T>A (p.Val351Glu)
c.1040T>A (p.Val347Glu)
15g.42777122C>ACA392015401TTBK2c.1318G>T (p.Val440Leu)
c.1213G>T (p.Val405Leu)
c.2533G>T (p.Val845Leu)
c.1336G>T (p.Val446Leu)
c.1111G>T (p.Val371Leu)
c.1303G>T (p.Val435Leu)
c.1051G>T (p.Val351Leu)
c.1039G>T (p.Val347Leu)
15g.42777122C=CA2172895284TTBK2c.1318G= (p.Val440=)
c.1213G= (p.Val405=)
c.2533G= (p.Val845=)
c.1336G= (p.Val446=)
c.1111G= (p.Val371=)
c.1303G= (p.Val435=)
c.1051G= (p.Val351=)
c.1039G= (p.Val347=)
15g.42777122C>GCA392015396TTBK2c.1318G>C (p.Val440Leu)
c.1213G>C (p.Val405Leu)
c.2533G>C (p.Val845Leu)
c.1336G>C (p.Val446Leu)
c.1111G>C (p.Val371Leu)
c.1303G>C (p.Val435Leu)
c.1051G>C (p.Val351Leu)
c.1039G>C (p.Val347Leu)
15g.42777122C>TCA269888878TTBK2c.1318G>A (p.Val440Met)
c.1213G>A (p.Val405Met)
c.2533G>A (p.Val845Met)
c.1336G>A (p.Val446Met)
c.1111G>A (p.Val371Met)
c.1303G>A (p.Val435Met)
c.1051G>A (p.Val351Met)
c.1039G>A (p.Val347Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42777123C>ACA489892969TTBK2c.1317G>T (p.Leu439=)
c.1212G>T (p.Leu404=)
c.2532G>T (p.Leu844=)
c.1335G>T (p.Leu445=)
c.1110G>T (p.Leu370=)
c.1302G>T (p.Leu434=)
c.1050G>T (p.Leu350=)
c.1038G>T (p.Leu346=)
15g.42777123C=CA2172895287TTBK2c.1317G= (p.Leu439=)
c.1212G= (p.Leu404=)
c.2532G= (p.Leu844=)
c.1335G= (p.Leu445=)
c.1110G= (p.Leu370=)
c.1302G= (p.Leu434=)
c.1050G= (p.Leu350=)
c.1038G= (p.Leu346=)
15g.42777123C>GCA489892970TTBK2c.1317G>C (p.Leu439=)
c.1212G>C (p.Leu404=)
c.2532G>C (p.Leu844=)
c.1335G>C (p.Leu445=)
c.1110G>C (p.Leu370=)
c.1302G>C (p.Leu434=)
c.1050G>C (p.Leu350=)
c.1038G>C (p.Leu346=)
gnomAD v4
15g.42777123C>TCA489892971TTBK2c.1317G>A (p.Leu439=)
c.1212G>A (p.Leu404=)
c.2532G>A (p.Leu844=)
c.1335G>A (p.Leu445=)
c.1110G>A (p.Leu370=)
c.1302G>A (p.Leu434=)
c.1050G>A (p.Leu350=)
c.1038G>A (p.Leu346=)
dbSNP gnomAD v2 gnomAD v4
15g.42777124A>CCA392015405TTBK2c.1316T>G (p.Leu439Arg)
c.1211T>G (p.Leu404Arg)
c.2531T>G (p.Leu844Arg)
c.1334T>G (p.Leu445Arg)
c.1109T>G (p.Leu370Arg)
c.1301T>G (p.Leu434Arg)
c.1049T>G (p.Leu350Arg)
c.1037T>G (p.Leu346Arg)
15g.42777124A>GCA392015407TTBK2c.1316T>C (p.Leu439Pro)
c.1211T>C (p.Leu404Pro)
c.2531T>C (p.Leu844Pro)
c.1334T>C (p.Leu445Pro)
c.1109T>C (p.Leu370Pro)
c.1301T>C (p.Leu434Pro)
c.1049T>C (p.Leu350Pro)
c.1037T>C (p.Leu346Pro)
gnomAD v4
15g.42777124A>TCA392015411TTBK2c.1316T>A (p.Leu439Gln)
c.1211T>A (p.Leu404Gln)
c.2531T>A (p.Leu844Gln)
c.1334T>A (p.Leu445Gln)
c.1109T>A (p.Leu370Gln)
c.1301T>A (p.Leu434Gln)
c.1049T>A (p.Leu350Gln)
c.1037T>A (p.Leu346Gln)
15g.42777125G>ACA489892972TTBK2c.1315C>T (p.Leu439=)
c.1210C>T (p.Leu404=)
c.2530C>T (p.Leu844=)
c.1333C>T (p.Leu445=)
c.1108C>T (p.Leu370=)
c.1300C>T (p.Leu434=)
c.1048C>T (p.Leu350=)
c.1036C>T (p.Leu346=)
dbSNP
15g.42777125G>CCA392015416TTBK2c.1315C>G (p.Leu439Val)
c.1210C>G (p.Leu404Val)
c.2530C>G (p.Leu844Val)
c.1333C>G (p.Leu445Val)
c.1108C>G (p.Leu370Val)
c.1300C>G (p.Leu434Val)
c.1048C>G (p.Leu350Val)
c.1036C>G (p.Leu346Val)
15g.42777125G>TCA392015417TTBK2c.1315C>A (p.Leu439Met)
c.1210C>A (p.Leu404Met)
c.2530C>A (p.Leu844Met)
c.1333C>A (p.Leu445Met)
c.1108C>A (p.Leu370Met)
c.1300C>A (p.Leu434Met)
c.1048C>A (p.Leu350Met)
c.1036C>A (p.Leu346Met)

Number of alleles fetched