WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42777055T>A | CA392014851 | TTBK2 | c.1385A>T (p.Asp462Val) c.1280A>T (p.Asp427Val) c.2600A>T (p.Asp867Val) c.1403A>T (p.Asp468Val) c.1178A>T (p.Asp393Val) c.1370A>T (p.Asp457Val) c.1118A>T (p.Asp373Val) c.1106A>T (p.Asp369Val) | |
| 15 | g.42777055T>C | CA392014852 | TTBK2 | c.1385A>G (p.Asp462Gly) c.1280A>G (p.Asp427Gly) c.2600A>G (p.Asp867Gly) c.1403A>G (p.Asp468Gly) c.1178A>G (p.Asp393Gly) c.1370A>G (p.Asp457Gly) c.1118A>G (p.Asp373Gly) c.1106A>G (p.Asp369Gly) | gnomAD v4 |
| 15 | g.42777055T>G | CA392014854 | TTBK2 | c.1385A>C (p.Asp462Ala) c.1280A>C (p.Asp427Ala) c.2600A>C (p.Asp867Ala) c.1403A>C (p.Asp468Ala) c.1178A>C (p.Asp393Ala) c.1370A>C (p.Asp457Ala) c.1118A>C (p.Asp373Ala) c.1106A>C (p.Asp369Ala) | |
| 15 | g.42777056C>A | CA392014856 | TTBK2 | c.1384G>T (p.Asp462Tyr) c.1279G>T (p.Asp427Tyr) c.2599G>T (p.Asp867Tyr) c.1402G>T (p.Asp468Tyr) c.1177G>T (p.Asp393Tyr) c.1369G>T (p.Asp457Tyr) c.1117G>T (p.Asp373Tyr) c.1105G>T (p.Asp369Tyr) | |
| 15 | g.42777056C>G | CA392014859 | TTBK2 | c.1384G>C (p.Asp462His) c.1279G>C (p.Asp427His) c.2599G>C (p.Asp867His) c.1402G>C (p.Asp468His) c.1177G>C (p.Asp393His) c.1369G>C (p.Asp457His) c.1117G>C (p.Asp373His) c.1105G>C (p.Asp369His) | |
| 15 | g.42777056C>T | CA392014862 | TTBK2 | c.1384G>A (p.Asp462Asn) c.1279G>A (p.Asp427Asn) c.2599G>A (p.Asp867Asn) c.1402G>A (p.Asp468Asn) c.1177G>A (p.Asp393Asn) c.1369G>A (p.Asp457Asn) c.1117G>A (p.Asp373Asn) c.1105G>A (p.Asp369Asn) | |
| 15 | g.42777057T>A | CA489892878 | TTBK2 | c.1383A>T (p.Pro461=) c.1278A>T (p.Pro426=) c.2598A>T (p.Pro866=) c.1401A>T (p.Pro467=) c.1176A>T (p.Pro392=) c.1368A>T (p.Pro456=) c.1116A>T (p.Pro372=) c.1104A>T (p.Pro368=) | |
| 15 | g.42777057T>C | CA489892882 | TTBK2 | c.1383A>G (p.Pro461=) c.1278A>G (p.Pro426=) c.2598A>G (p.Pro866=) c.1401A>G (p.Pro467=) c.1176A>G (p.Pro392=) c.1368A>G (p.Pro456=) c.1116A>G (p.Pro372=) c.1104A>G (p.Pro368=) | |
| 15 | g.42777057T>G | CA489892880 | TTBK2 | c.1383A>C (p.Pro461=) c.1278A>C (p.Pro426=) c.2598A>C (p.Pro866=) c.1401A>C (p.Pro467=) c.1176A>C (p.Pro392=) c.1368A>C (p.Pro456=) c.1116A>C (p.Pro372=) c.1104A>C (p.Pro368=) | |
| 15 | g.42777058G>A | CA392014870 | TTBK2 | c.1382C>T (p.Pro461Leu) c.1277C>T (p.Pro426Leu) c.2597C>T (p.Pro866Leu) c.1400C>T (p.Pro467Leu) c.1175C>T (p.Pro392Leu) c.1367C>T (p.Pro456Leu) c.1115C>T (p.Pro372Leu) c.1103C>T (p.Pro368Leu) | |
| 15 | g.42777058G>C | CA392014871 | TTBK2 | c.1382C>G (p.Pro461Arg) c.1277C>G (p.Pro426Arg) c.2597C>G (p.Pro866Arg) c.1400C>G (p.Pro467Arg) c.1175C>G (p.Pro392Arg) c.1367C>G (p.Pro456Arg) c.1115C>G (p.Pro372Arg) c.1103C>G (p.Pro368Arg) | |
| 15 | g.42777058G>T | CA392014869 | TTBK2 | c.1382C>A (p.Pro461Gln) c.1277C>A (p.Pro426Gln) c.2597C>A (p.Pro866Gln) c.1400C>A (p.Pro467Gln) c.1175C>A (p.Pro392Gln) c.1367C>A (p.Pro456Gln) c.1115C>A (p.Pro372Gln) c.1103C>A (p.Pro368Gln) | |
| 15 | g.42777059G>A | CA392014873 | TTBK2 | c.1381C>T (p.Pro461Ser) c.1276C>T (p.Pro426Ser) c.2596C>T (p.Pro866Ser) c.1399C>T (p.Pro467Ser) c.1174C>T (p.Pro392Ser) c.1366C>T (p.Pro456Ser) c.1114C>T (p.Pro372Ser) c.1102C>T (p.Pro368Ser) | |
| 15 | g.42777059G>C | CA392014876 | TTBK2 | c.1381C>G (p.Pro461Ala) c.1276C>G (p.Pro426Ala) c.2596C>G (p.Pro866Ala) c.1399C>G (p.Pro467Ala) c.1174C>G (p.Pro392Ala) c.1366C>G (p.Pro456Ala) c.1114C>G (p.Pro372Ala) c.1102C>G (p.Pro368Ala) | gnomAD v4 |
| 15 | g.42777059G>T | CA392014877 | TTBK2 | c.1381C>A (p.Pro461Thr) c.1276C>A (p.Pro426Thr) c.2596C>A (p.Pro866Thr) c.1399C>A (p.Pro467Thr) c.1174C>A (p.Pro392Thr) c.1366C>A (p.Pro456Thr) c.1114C>A (p.Pro372Thr) c.1102C>A (p.Pro368Thr) | |
| 15 | g.42777060C>A | CA392014878 | TTBK2 | c.1380G>T (p.Lys460Asn) c.1275G>T (p.Lys425Asn) c.2595G>T (p.Lys865Asn) c.1398G>T (p.Lys466Asn) c.1173G>T (p.Lys391Asn) c.1365G>T (p.Lys455Asn) c.1113G>T (p.Lys371Asn) c.1101G>T (p.Lys367Asn) | |
| 15 | g.42777060C= | CA2172895173 | TTBK2 | c.1380G= (p.Lys460=) c.1275G= (p.Lys425=) c.2595G= (p.Lys865=) c.1398G= (p.Lys466=) c.1173G= (p.Lys391=) c.1365G= (p.Lys455=) c.1113G= (p.Lys371=) c.1101G= (p.Lys367=) | |
| 15 | g.42777060C>G | CA392014879 | TTBK2 | c.1380G>C (p.Lys460Asn) c.1275G>C (p.Lys425Asn) c.2595G>C (p.Lys865Asn) c.1398G>C (p.Lys466Asn) c.1173G>C (p.Lys391Asn) c.1365G>C (p.Lys455Asn) c.1113G>C (p.Lys371Asn) c.1101G>C (p.Lys367Asn) | |
| 15 | g.42777060C>T | CA489892886 | TTBK2 | c.1380G>A (p.Lys460=) c.1275G>A (p.Lys425=) c.2595G>A (p.Lys865=) c.1398G>A (p.Lys466=) c.1173G>A (p.Lys391=) c.1365G>A (p.Lys455=) c.1113G>A (p.Lys371=) c.1101G>A (p.Lys367=) | dbSNP |
| 15 | g.42777061T>A | CA392014882 | TTBK2 | c.1379A>T (p.Lys460Met) c.1274A>T (p.Lys425Met) c.2594A>T (p.Lys865Met) c.1397A>T (p.Lys466Met) c.1172A>T (p.Lys391Met) c.1364A>T (p.Lys455Met) c.1112A>T (p.Lys371Met) c.1100A>T (p.Lys367Met) | |
| 15 | g.42777061T>C | CA392014889 | TTBK2 | c.1379A>G (p.Lys460Arg) c.1274A>G (p.Lys425Arg) c.2594A>G (p.Lys865Arg) c.1397A>G (p.Lys466Arg) c.1172A>G (p.Lys391Arg) c.1364A>G (p.Lys455Arg) c.1112A>G (p.Lys371Arg) c.1100A>G (p.Lys367Arg) | |
| 15 | g.42777061T>G | CA392014892 | TTBK2 | c.1379A>C (p.Lys460Thr) c.1274A>C (p.Lys425Thr) c.2594A>C (p.Lys865Thr) c.1397A>C (p.Lys466Thr) c.1172A>C (p.Lys391Thr) c.1364A>C (p.Lys455Thr) c.1112A>C (p.Lys371Thr) c.1100A>C (p.Lys367Thr) | |
| 15 | g.42777062T>A | CA392014896 | TTBK2 | c.1378A>T (p.Lys460Ter) c.1273A>T (p.Lys425Ter) c.2593A>T (p.Lys865Ter) c.1396A>T (p.Lys466Ter) c.1171A>T (p.Lys391Ter) c.1363A>T (p.Lys455Ter) c.1111A>T (p.Lys371Ter) c.1099A>T (p.Lys367Ter) | |
| 15 | g.42777062T>C | CA392014898 | TTBK2 | c.1378A>G (p.Lys460Glu) c.1273A>G (p.Lys425Glu) c.2593A>G (p.Lys865Glu) c.1396A>G (p.Lys466Glu) c.1171A>G (p.Lys391Glu) c.1363A>G (p.Lys455Glu) c.1111A>G (p.Lys371Glu) c.1099A>G (p.Lys367Glu) | |
| 15 | g.42777062T>G | CA392014903 | TTBK2 | c.1378A>C (p.Lys460Gln) c.1273A>C (p.Lys425Gln) c.2593A>C (p.Lys865Gln) c.1396A>C (p.Lys466Gln) c.1171A>C (p.Lys391Gln) c.1363A>C (p.Lys455Gln) c.1111A>C (p.Lys371Gln) c.1099A>C (p.Lys367Gln) | |
| 15 | g.42777063T>A | CA489892891 | TTBK2 | c.1377A>T (p.Pro459=) c.1272A>T (p.Pro424=) c.2592A>T (p.Pro864=) c.1395A>T (p.Pro465=) c.1170A>T (p.Pro390=) c.1362A>T (p.Pro454=) c.1110A>T (p.Pro370=) c.1098A>T (p.Pro366=) | |
| 15 | g.42777063T>C | CA489892892 | TTBK2 | c.1377A>G (p.Pro459=) c.1272A>G (p.Pro424=) c.2592A>G (p.Pro864=) c.1395A>G (p.Pro465=) c.1170A>G (p.Pro390=) c.1362A>G (p.Pro454=) c.1110A>G (p.Pro370=) c.1098A>G (p.Pro366=) | |
| 15 | g.42777063T>G | CA7516905 | TTBK2 | c.1377A>C (p.Pro459=) c.1272A>C (p.Pro424=) c.2592A>C (p.Pro864=) c.1395A>C (p.Pro465=) c.1170A>C (p.Pro390=) c.1362A>C (p.Pro454=) c.1110A>C (p.Pro370=) c.1098A>C (p.Pro366=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42777063T= | CA2172895177 | TTBK2 | c.1377A= (p.Pro459=) c.1272A= (p.Pro424=) c.2592A= (p.Pro864=) c.1395A= (p.Pro465=) c.1170A= (p.Pro390=) c.1362A= (p.Pro454=) c.1110A= (p.Pro370=) c.1098A= (p.Pro366=) | |
| 15 | g.42777064G>A | CA392014915 | TTBK2 | c.1376C>T (p.Pro459Leu) c.1271C>T (p.Pro424Leu) c.2591C>T (p.Pro864Leu) c.1394C>T (p.Pro465Leu) c.1169C>T (p.Pro390Leu) c.1361C>T (p.Pro454Leu) c.1109C>T (p.Pro370Leu) c.1097C>T (p.Pro366Leu) | |
| 15 | g.42777064G>C | CA392014919 | TTBK2 | c.1376C>G (p.Pro459Arg) c.1271C>G (p.Pro424Arg) c.2591C>G (p.Pro864Arg) c.1394C>G (p.Pro465Arg) c.1169C>G (p.Pro390Arg) c.1361C>G (p.Pro454Arg) c.1109C>G (p.Pro370Arg) c.1097C>G (p.Pro366Arg) | |
| 15 | g.42777064G>T | CA392014912 | TTBK2 | c.1376C>A (p.Pro459Gln) c.1271C>A (p.Pro424Gln) c.2591C>A (p.Pro864Gln) c.1394C>A (p.Pro465Gln) c.1169C>A (p.Pro390Gln) c.1361C>A (p.Pro454Gln) c.1109C>A (p.Pro370Gln) c.1097C>A (p.Pro366Gln) | |
| 15 | g.42777065G>A | CA392014925 | TTBK2 | c.1375C>T (p.Pro459Ser) c.1270C>T (p.Pro424Ser) c.2590C>T (p.Pro864Ser) c.1393C>T (p.Pro465Ser) c.1168C>T (p.Pro390Ser) c.1360C>T (p.Pro454Ser) c.1108C>T (p.Pro370Ser) c.1096C>T (p.Pro366Ser) | |
| 15 | g.42777065G>C | CA392014932 | TTBK2 | c.1375C>G (p.Pro459Ala) c.1270C>G (p.Pro424Ala) c.2590C>G (p.Pro864Ala) c.1393C>G (p.Pro465Ala) c.1168C>G (p.Pro390Ala) c.1360C>G (p.Pro454Ala) c.1108C>G (p.Pro370Ala) c.1096C>G (p.Pro366Ala) | |
| 15 | g.42777065G>T | CA392014935 | TTBK2 | c.1375C>A (p.Pro459Thr) c.1270C>A (p.Pro424Thr) c.2590C>A (p.Pro864Thr) c.1393C>A (p.Pro465Thr) c.1168C>A (p.Pro390Thr) c.1360C>A (p.Pro454Thr) c.1108C>A (p.Pro370Thr) c.1096C>A (p.Pro366Thr) | gnomAD v4 |
| 15 | g.42777066C>A | CA392014940 | TTBK2 | c.1374G>T (p.Glu458Asp) c.1269G>T (p.Glu423Asp) c.2589G>T (p.Glu863Asp) c.1392G>T (p.Glu464Asp) c.1167G>T (p.Glu389Asp) c.1359G>T (p.Glu453Asp) c.1107G>T (p.Glu369Asp) c.1095G>T (p.Glu365Asp) | |
| 15 | g.42777066C>G | CA392014942 | TTBK2 | c.1374G>C (p.Glu458Asp) c.1269G>C (p.Glu423Asp) c.2589G>C (p.Glu863Asp) c.1392G>C (p.Glu464Asp) c.1167G>C (p.Glu389Asp) c.1359G>C (p.Glu453Asp) c.1107G>C (p.Glu369Asp) c.1095G>C (p.Glu365Asp) | |
| 15 | g.42777066C>T | CA489892896 | TTBK2 | c.1374G>A (p.Glu458=) c.1269G>A (p.Glu423=) c.2589G>A (p.Glu863=) c.1392G>A (p.Glu464=) c.1167G>A (p.Glu389=) c.1359G>A (p.Glu453=) c.1107G>A (p.Glu369=) c.1095G>A (p.Glu365=) | gnomAD v4 |
| 15 | g.42777067T>A | CA392014955 | TTBK2 | c.1373A>T (p.Glu458Val) c.1268A>T (p.Glu423Val) c.2588A>T (p.Glu863Val) c.1391A>T (p.Glu464Val) c.1166A>T (p.Glu389Val) c.1358A>T (p.Glu453Val) c.1106A>T (p.Glu369Val) c.1094A>T (p.Glu365Val) | gnomAD v4 |
| 15 | g.42777067T>C | CA392014948 | TTBK2 | c.1373A>G (p.Glu458Gly) c.1268A>G (p.Glu423Gly) c.2588A>G (p.Glu863Gly) c.1391A>G (p.Glu464Gly) c.1166A>G (p.Glu389Gly) c.1358A>G (p.Glu453Gly) c.1106A>G (p.Glu369Gly) c.1094A>G (p.Glu365Gly) | |
| 15 | g.42777067T>G | CA392014952 | TTBK2 | c.1373A>C (p.Glu458Ala) c.1268A>C (p.Glu423Ala) c.2588A>C (p.Glu863Ala) c.1391A>C (p.Glu464Ala) c.1166A>C (p.Glu389Ala) c.1358A>C (p.Glu453Ala) c.1106A>C (p.Glu369Ala) c.1094A>C (p.Glu365Ala) | |
| 15 | g.42777068C>A | CA392014959 | TTBK2 | c.1372G>T (p.Glu458Ter) c.1267G>T (p.Glu423Ter) c.2587G>T (p.Glu863Ter) c.1390G>T (p.Glu464Ter) c.1165G>T (p.Glu389Ter) c.1357G>T (p.Glu453Ter) c.1105G>T (p.Glu369Ter) c.1093G>T (p.Glu365Ter) | |
| 15 | g.42777068C>G | CA392014964 | TTBK2 | c.1372G>C (p.Glu458Gln) c.1267G>C (p.Glu423Gln) c.2587G>C (p.Glu863Gln) c.1390G>C (p.Glu464Gln) c.1165G>C (p.Glu389Gln) c.1357G>C (p.Glu453Gln) c.1105G>C (p.Glu369Gln) c.1093G>C (p.Glu365Gln) | |
| 15 | g.42777068C>T | CA392014966 | TTBK2 | c.1372G>A (p.Glu458Lys) c.1267G>A (p.Glu423Lys) c.2587G>A (p.Glu863Lys) c.1390G>A (p.Glu464Lys) c.1165G>A (p.Glu389Lys) c.1357G>A (p.Glu453Lys) c.1105G>A (p.Glu369Lys) c.1093G>A (p.Glu365Lys) | |
| 15 | g.42777069C>A | CA489892900 | TTBK2 | c.1371G>T (p.Leu457=) c.1266G>T (p.Leu422=) c.2586G>T (p.Leu862=) c.1389G>T (p.Leu463=) c.1164G>T (p.Leu388=) c.1356G>T (p.Leu452=) c.1104G>T (p.Leu368=) c.1092G>T (p.Leu364=) | |
| 15 | g.42777069C>G | CA489892902 | TTBK2 | c.1371G>C (p.Leu457=) c.1266G>C (p.Leu422=) c.2586G>C (p.Leu862=) c.1389G>C (p.Leu463=) c.1164G>C (p.Leu388=) c.1356G>C (p.Leu452=) c.1104G>C (p.Leu368=) c.1092G>C (p.Leu364=) | |
| 15 | g.42777069C>T | CA489892903 | TTBK2 | c.1371G>A (p.Leu457=) c.1266G>A (p.Leu422=) c.2586G>A (p.Leu862=) c.1389G>A (p.Leu463=) c.1164G>A (p.Leu388=) c.1356G>A (p.Leu452=) c.1104G>A (p.Leu368=) c.1092G>A (p.Leu364=) | |
| 15 | g.42777070A= | CA2172895180 | TTBK2 | c.1370T= (p.Leu457=) c.1265T= (p.Leu422=) c.2585T= (p.Leu862=) c.1388T= (p.Leu463=) c.1163T= (p.Leu388=) c.1355T= (p.Leu452=) c.1103T= (p.Leu368=) c.1091T= (p.Leu364=) | |
| 15 | g.42777070A>C | CA392014971 | TTBK2 | c.1370T>G (p.Leu457Arg) c.1265T>G (p.Leu422Arg) c.2585T>G (p.Leu862Arg) c.1388T>G (p.Leu463Arg) c.1163T>G (p.Leu388Arg) c.1355T>G (p.Leu452Arg) c.1103T>G (p.Leu368Arg) c.1091T>G (p.Leu364Arg) | |
| 15 | g.42777070A>G | CA392014974 | TTBK2 | c.1370T>C (p.Leu457Pro) c.1265T>C (p.Leu422Pro) c.2585T>C (p.Leu862Pro) c.1388T>C (p.Leu463Pro) c.1163T>C (p.Leu388Pro) c.1355T>C (p.Leu452Pro) c.1103T>C (p.Leu368Pro) c.1091T>C (p.Leu364Pro) |