Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.42777112A>C | CA392015328 | TTBK2 | c.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) | |
15 | g.42777112A>G | CA392015331 | TTBK2 | c.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) | |
15 | g.42777112A>T | CA392015336 | TTBK2 | c.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) | |
15 | g.42777113A= | CA2172895260 | TTBK2 | c.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=) | |
15 | g.42777113A>C | CA392015339 | TTBK2 | c.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 |
15 | g.42777113A>G | CA489892960 | TTBK2 | c.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 |
15 | g.42777113A>T | CA392015343 | TTBK2 | c.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 |
15 | g.42777114C>A | CA392015346 | TTBK2 | c.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) | |
15 | g.42777114C= | CA2172895264 | TTBK2 | c.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=) | |
15 | g.42777114C>G | CA7516912 | TTBK2 | c.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 |
15 | g.42777114C>T | CA489892961 | TTBK2 | c.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=) | |
15 | g.42777115T>A | CA392015351 | TTBK2 | c.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) | |
15 | g.42777115T>C | CA392015354 | TTBK2 | c.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) | |
15 | g.42777115T>G | CA392015352 | TTBK2 | c.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) | |
15 | g.42777116T>A | CA392015357 | TTBK2 | c.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) | |
15 | g.42777116T>C | CA392015359 | TTBK2 | c.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) | |
15 | g.42777116T>G | CA392015360 | TTBK2 | c.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 |
15 | g.42777117T>A | CA489892962 | TTBK2 | c.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=) | |
15 | g.42777117T>C | CA489892963 | TTBK2 | c.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=) | |
15 | g.42777117T>G | CA489892964 | TTBK2 | c.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=) | |
15 | g.42777118C>A | CA392015365 | TTBK2 | c.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 |
15 | g.42777118C= | CA2172895268 | TTBK2 | c.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=) | |
15 | g.42777118C>G | CA392015368 | TTBK2 | c.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) | |
15 | g.42777118C>T | CA7516913 | TTBK2 | c.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 |
15 | g.42777119G>A | CA7516914 | TTBK2 | c.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 |
15 | g.42777119G>C | CA392015377 | TTBK2 | c.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 |
15 | g.42777119G= | CA2172895270 | TTBK2 | c.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=) | |
15 | g.42777119G>T | CA489892965 | TTBK2 | c.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=) | |
15 | g.42777120C>A | CA489892966 | TTBK2 | c.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=) | |
15 | g.42777120C= | CA2172895277 | TTBK2 | c.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=) | |
15 | g.42777120C>G | CA489892967 | TTBK2 | c.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=) | |
15 | g.42777120C>T | CA489892968 | TTBK2 | c.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 |
15 | g.42777121A= | CA2172895280 | TTBK2 | c.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=) | |
15 | g.42777121A>C | CA392015381 | TTBK2 | c.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 |
15 | g.42777121A>G | CA392015384 | TTBK2 | c.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) | |
15 | g.42777121A>T | CA392015387 | TTBK2 | c.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) | |
15 | g.42777122C>A | CA392015401 | TTBK2 | c.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) | |
15 | g.42777122C= | CA2172895284 | TTBK2 | c.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=) | |
15 | g.42777122C>G | CA392015396 | TTBK2 | c.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) | |
15 | g.42777122C>T | CA269888878 | TTBK2 | c.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 |
15 | g.42777123C>A | CA489892969 | TTBK2 | c.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=) | |
15 | g.42777123C= | CA2172895287 | TTBK2 | c.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=) | |
15 | g.42777123C>G | CA489892970 | TTBK2 | c.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 |
15 | g.42777123C>T | CA489892971 | TTBK2 | c.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 |
15 | g.42777124A>C | CA392015405 | TTBK2 | c.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) | |
15 | g.42777124A>G | CA392015407 | TTBK2 | c.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 |
15 | g.42777124A>T | CA392015411 | TTBK2 | c.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) | |
15 | g.42777125G>A | CA489892972 | TTBK2 | c.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 |
15 | g.42777125G>C | CA392015416 | TTBK2 | c.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) | |
15 | g.42777125G>T | CA392015417 | TTBK2 | c.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) |