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 |
|---|---|---|---|---|---|
| 9 | g.132905474_132906041del | CA2739264830 | TSC1 | c.1535_1994+108del c.1538_1997+108del c.1151_1610+108del c.1175_1634+108del c.1382_1841+108del c.*1308_*1767+108del c.1385_1844+108del c.56_515+108del c.275_734+108del c.*1305_*1764+108del n.1913_2372+108del n.493_952+108del n.2389_2848+108del n.503_962+108del c.*777_*1236+108del n.2414_2873+108del n.602_1061+108del c.1172_1631+108del | ClinVar |
| 9 | g.132905809_132905821delinsGGTGGAATTTTAC | CA1882414095 | TSC1 | c.1754_1766delinsGTAAAATTCCACC (p.Cys585=) c.1757_1769delinsGTAAAATTCCACC (p.Cys586=) c.1370_1382delinsGTAAAATTCCACC (p.Cys457=) c.1394_1406delinsGTAAAATTCCACC (p.Cys465=) c.1601_1613delinsGTAAAATTCCACC (p.Cys534=) c.*1527_*1539delinsGTAAAATTCCACC (n.*1527_*1539delinsGTAAAATTCCACC) c.1604_1616delinsGTAAAATTCCACC (p.Cys535=) c.275_287delinsGTAAAATTCCACC (p.Cys92=) c.494_506delinsGTAAAATTCCACC (p.Cys165=) c.*1524_*1536delinsGTAAAATTCCACC (n.*1524_*1536delinsGTAAAATTCCACC) n.2132_2144delinsGTAAAATTCCACC n.712_724delinsGTAAAATTCCACC n.2608_2620delinsGTAAAATTCCACC n.722_734delinsGTAAAATTCCACC c.*996_*1008delinsGTAAAATTCCACC (n.*996_*1008delinsGTAAAATTCCACC) n.2633_2645delinsGTAAAATTCCACC n.821_833delinsGTAAAATTCCACC c.1391_1403delinsGTAAAATTCCACC (p.Cys464=) | |
| 9 | g.132905810_132905821delinsTG | CA005359 | TSC1 | c.1754_1765delinsCA (p.Cys585SerfsTer?) c.1757_1768delinsCA (p.Cys586SerfsTer?) c.1370_1381delinsCA (p.Cys457SerfsTer?) c.1394_1405delinsCA (p.Cys465SerfsTer?) c.1601_1612delinsCA (p.Cys534SerfsTer?) c.*1527_*1538delinsCA (n.*1527_*1538delinsCA) c.1604_1615delinsCA (p.Cys535SerfsTer?) c.275_286delinsCA (p.Cys92SerfsTer?) c.494_505delinsCA (p.Cys165SerfsTer?) c.*1524_*1535delinsCA (n.*1524_*1535delinsCA) n.2132_2143delinsCA n.712_723delinsCA n.2608_2619delinsCA n.722_733delinsCA c.*996_*1007delinsCA (n.*996_*1007delinsCA) n.2633_2644delinsCA n.821_832delinsCA c.1391_1402delinsCA (p.Cys464SerfsTer?) | ClinVar dbSNP |
| 9 | g.132905812_132905821delinsGGAATTTTAC | CA1882414106 | TSC1 | c.1754_1763delinsGTAAAATTCC (p.Cys585=) c.1757_1766delinsGTAAAATTCC (p.Cys586=) c.1370_1379delinsGTAAAATTCC (p.Cys457=) c.1394_1403delinsGTAAAATTCC (p.Cys465=) c.1601_1610delinsGTAAAATTCC (p.Cys534=) c.*1527_*1536delinsGTAAAATTCC (n.*1527_*1536delinsGTAAAATTCC) c.1604_1613delinsGTAAAATTCC (p.Cys535=) c.275_284delinsGTAAAATTCC (p.Cys92=) c.494_503delinsGTAAAATTCC (p.Cys165=) c.*1524_*1533delinsGTAAAATTCC (n.*1524_*1533delinsGTAAAATTCC) n.2132_2141delinsGTAAAATTCC n.712_721delinsGTAAAATTCC n.2608_2617delinsGTAAAATTCC n.722_731delinsGTAAAATTCC c.*996_*1005delinsGTAAAATTCC (n.*996_*1005delinsGTAAAATTCC) n.2633_2642delinsGTAAAATTCC n.821_830delinsGTAAAATTCC c.1391_1400delinsGTAAAATTCC (p.Cys464=) | |
| 9 | g.132905813_132905821del | CA005347 | TSC1 | c.1754_1762del (p.Cys585_Pro588delinsSer) c.1757_1765del (p.Cys586_Pro589delinsSer) c.1370_1378del (p.Cys457_Pro460delinsSer) c.1394_1402del (p.Cys465_Pro468delinsSer) c.1601_1609del (p.Cys534_Pro537delinsSer) c.*1527_*1535del (n.*1527_*1535del) c.1604_1612del (p.Cys535_Pro538delinsSer) c.275_283del (p.Cys92_Pro95delinsSer) c.494_502del (p.Cys165_Pro168delinsSer) c.*1524_*1532del (n.*1524_*1532del) n.2132_2140del n.712_720del n.2608_2616del n.722_730del c.*996_*1004del (n.*996_*1004del) n.2633_2641del n.821_829del c.1391_1399del (p.Cys464_Pro467delinsSer) | ClinVar dbSNP |
| 9 | g.132905818T>A | CA375363728 | TSC1 | c.1757A>T (p.Lys586Ile) c.1760A>T (p.Lys587Ile) c.1373A>T (p.Lys458Ile) c.1397A>T (p.Lys466Ile) c.1604A>T (p.Lys535Ile) c.*1530A>T (n.*1530A>T) c.1607A>T (p.Lys536Ile) c.278A>T (p.Lys93Ile) c.497A>T (p.Lys166Ile) c.*1527A>T (n.*1527A>T) n.2135A>T n.715A>T n.2611A>T n.725A>T c.*999A>T (n.*999A>T) n.2636A>T n.824A>T c.1394A>T (p.Lys465Ile) | |
| 9 | g.132905818T>C | CA005376 | TSC1 | c.1757A>G (p.Lys586Arg) c.1760A>G (p.Lys587Arg) c.1373A>G (p.Lys458Arg) c.1397A>G (p.Lys466Arg) c.1604A>G (p.Lys535Arg) c.*1530A>G (n.*1530A>G) c.1607A>G (p.Lys536Arg) c.278A>G (p.Lys93Arg) c.497A>G (p.Lys166Arg) c.*1527A>G (n.*1527A>G) n.2135A>G n.715A>G n.2611A>G n.725A>G c.*999A>G (n.*999A>G) n.2636A>G n.824A>G c.1394A>G (p.Lys465Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132905818T>G | CA375363732 | TSC1 | c.1757A>C (p.Lys586Thr) c.1760A>C (p.Lys587Thr) c.1373A>C (p.Lys458Thr) c.1397A>C (p.Lys466Thr) c.1604A>C (p.Lys535Thr) c.*1530A>C (n.*1530A>C) c.1607A>C (p.Lys536Thr) c.278A>C (p.Lys93Thr) c.497A>C (p.Lys166Thr) c.*1527A>C (n.*1527A>C) n.2135A>C n.715A>C n.2611A>C n.725A>C c.*999A>C (n.*999A>C) n.2636A>C n.824A>C c.1394A>C (p.Lys465Thr) | |
| 9 | g.132905818T= | CA1882414114 | TSC1 | c.1757A= (p.Lys586=) c.1760A= (p.Lys587=) c.1373A= (p.Lys458=) c.1397A= (p.Lys466=) c.1604A= (p.Lys535=) c.*1530A= (n.*1530A=) c.1607A= (p.Lys536=) c.278A= (p.Lys93=) c.497A= (p.Lys166=) c.*1527A= (n.*1527A=) n.2135A= n.715A= n.2611A= n.725A= c.*999A= (n.*999A=) n.2636A= n.824A= c.1394A= (p.Lys465=) | |
| 9 | g.132905819T>A | CA005369 | TSC1 | c.1756A>T (p.Lys586Ter) c.1759A>T (p.Lys587Ter) c.1372A>T (p.Lys458Ter) c.1396A>T (p.Lys466Ter) c.1603A>T (p.Lys535Ter) c.*1529A>T (n.*1529A>T) c.1606A>T (p.Lys536Ter) c.277A>T (p.Lys93Ter) c.496A>T (p.Lys166Ter) c.*1526A>T (n.*1526A>T) n.2134A>T n.714A>T n.2610A>T n.724A>T c.*998A>T (n.*998A>T) n.2635A>T n.823A>T c.1393A>T (p.Lys465Ter) | ClinVar dbSNP |
| 9 | g.132905819T>C | CA375363738 | TSC1 | c.1756A>G (p.Lys586Glu) c.1759A>G (p.Lys587Glu) c.1372A>G (p.Lys458Glu) c.1396A>G (p.Lys466Glu) c.1603A>G (p.Lys535Glu) c.*1529A>G (n.*1529A>G) c.1606A>G (p.Lys536Glu) c.277A>G (p.Lys93Glu) c.496A>G (p.Lys166Glu) c.*1526A>G (n.*1526A>G) n.2134A>G n.714A>G n.2610A>G n.724A>G c.*998A>G (n.*998A>G) n.2635A>G n.823A>G c.1393A>G (p.Lys465Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132905819T>G | CA375363748 | TSC1 | c.1756A>C (p.Lys586Gln) c.1759A>C (p.Lys587Gln) c.1372A>C (p.Lys458Gln) c.1396A>C (p.Lys466Gln) c.1603A>C (p.Lys535Gln) c.*1529A>C (n.*1529A>C) c.1606A>C (p.Lys536Gln) c.277A>C (p.Lys93Gln) c.496A>C (p.Lys166Gln) c.*1526A>C (n.*1526A>C) n.2134A>C n.714A>C n.2610A>C n.724A>C c.*998A>C (n.*998A>C) n.2635A>C n.823A>C c.1393A>C (p.Lys465Gln) | dbSNP |
| 9 | g.132905819T= | CA1882414121 | TSC1 | c.1756A= (p.Lys586=) c.1759A= (p.Lys587=) c.1372A= (p.Lys458=) c.1396A= (p.Lys466=) c.1603A= (p.Lys535=) c.*1529A= (n.*1529A=) c.1606A= (p.Lys536=) c.277A= (p.Lys93=) c.496A= (p.Lys166=) c.*1526A= (n.*1526A=) n.2134A= n.714A= n.2610A= n.724A= c.*998A= (n.*998A=) n.2635A= n.823A= c.1393A= (p.Lys465=) | |
| 9 | g.132905819_132905820delinsTA | CA1882414124 | TSC1 | c.1755_1756delinsTA (p.Cys585=) c.1758_1759delinsTA (p.Cys586=) c.1371_1372delinsTA (p.Cys457=) c.1395_1396delinsTA (p.Cys465=) c.1602_1603delinsTA (p.Cys534=) c.*1528_*1529delinsTA (n.*1528_*1529delinsTA) c.1605_1606delinsTA (p.Cys535=) c.276_277delinsTA (p.Cys92=) c.495_496delinsTA (p.Cys165=) c.*1525_*1526delinsTA (n.*1525_*1526delinsTA) n.2133_2134delinsTA n.713_714delinsTA n.2609_2610delinsTA n.723_724delinsTA c.*997_*998delinsTA (n.*997_*998delinsTA) n.2634_2635delinsTA n.822_823delinsTA c.1392_1393delinsTA (p.Cys464=) | |
| 9 | g.132905820del | CA658797318 | TSC1 | c.1755del (p.Cys585Ter) c.1758del (p.Cys586Ter) c.1371del (p.Cys457Ter) c.1395del (p.Cys465Ter) c.1602del (p.Cys534Ter) c.*1528del (n.*1528del) c.1605del (p.Cys535Ter) c.276del (p.Cys92Ter) c.495del (p.Cys165Ter) c.*1525del (n.*1525del) n.2133del n.713del n.2609del n.723del c.*997del (n.*997del) n.2634del n.822del c.1392del (p.Cys464Ter) | ClinVar dbSNP |
| 9 | g.132905820A= | CA1882414127 | TSC1 | c.1755T= (p.Cys585=) c.1758T= (p.Cys586=) c.1371T= (p.Cys457=) c.1395T= (p.Cys465=) c.1602T= (p.Cys534=) c.*1528T= (n.*1528T=) c.1605T= (p.Cys535=) c.276T= (p.Cys92=) c.495T= (p.Cys165=) c.*1525T= (n.*1525T=) n.2133T= n.713T= n.2609T= n.723T= c.*997T= (n.*997T=) n.2634T= n.822T= c.1392T= (p.Cys464=) | |
| 9 | g.132905820A>C | CA375363750 | TSC1 | c.1755T>G (p.Cys585Trp) c.1758T>G (p.Cys586Trp) c.1371T>G (p.Cys457Trp) c.1395T>G (p.Cys465Trp) c.1602T>G (p.Cys534Trp) c.*1528T>G (n.*1528T>G) c.1605T>G (p.Cys535Trp) c.276T>G (p.Cys92Trp) c.495T>G (p.Cys165Trp) c.*1525T>G (n.*1525T>G) n.2133T>G n.713T>G n.2609T>G n.723T>G c.*997T>G (n.*997T>G) n.2634T>G n.822T>G c.1392T>G (p.Cys464Trp) | ClinVar |
| 9 | g.132905820A>G | CA467813295 | TSC1 | c.1755T>C (p.Cys585=) c.1758T>C (p.Cys586=) c.1371T>C (p.Cys457=) c.1395T>C (p.Cys465=) c.1602T>C (p.Cys534=) c.*1528T>C (n.*1528T>C) c.1605T>C (p.Cys535=) c.276T>C (p.Cys92=) c.495T>C (p.Cys165=) c.*1525T>C (n.*1525T>C) n.2133T>C n.713T>C n.2609T>C n.723T>C c.*997T>C (n.*997T>C) n.2634T>C n.822T>C c.1392T>C (p.Cys464=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132905820A>T | CA375363752 | TSC1 | c.1755T>A (p.Cys585Ter) c.1758T>A (p.Cys586Ter) c.1371T>A (p.Cys457Ter) c.1395T>A (p.Cys465Ter) c.1602T>A (p.Cys534Ter) c.*1528T>A (n.*1528T>A) c.1605T>A (p.Cys535Ter) c.276T>A (p.Cys92Ter) c.495T>A (p.Cys165Ter) c.*1525T>A (n.*1525T>A) n.2133T>A n.713T>A n.2609T>A n.723T>A c.*997T>A (n.*997T>A) n.2634T>A n.822T>A c.1392T>A (p.Cys464Ter) | dbSNP |
| 9 | g.132905821C>A | CA375363758 | TSC1 | c.1754G>T (p.Cys585Phe) c.1757G>T (p.Cys586Phe) c.1370G>T (p.Cys457Phe) c.1394G>T (p.Cys465Phe) c.1601G>T (p.Cys534Phe) c.*1527G>T (n.*1527G>T) c.1604G>T (p.Cys535Phe) c.275G>T (p.Cys92Phe) c.494G>T (p.Cys165Phe) c.*1524G>T (n.*1524G>T) n.2132G>T n.712G>T n.2608G>T n.722G>T c.*996G>T (n.*996G>T) n.2633G>T n.821G>T c.1391G>T (p.Cys464Phe) | |
| 9 | g.132905821C= | CA1882414129 | TSC1 | c.1754G= (p.Cys585=) c.1757G= (p.Cys586=) c.1370G= (p.Cys457=) c.1394G= (p.Cys465=) c.1601G= (p.Cys534=) c.*1527G= (n.*1527G=) c.1604G= (p.Cys535=) c.275G= (p.Cys92=) c.494G= (p.Cys165=) c.*1524G= (n.*1524G=) n.2132G= n.712G= n.2608G= n.722G= c.*996G= (n.*996G=) n.2633G= n.821G= c.1391G= (p.Cys464=) | |
| 9 | g.132905821C>G | CA375363757 | TSC1 | c.1754G>C (p.Cys585Ser) c.1757G>C (p.Cys586Ser) c.1370G>C (p.Cys457Ser) c.1394G>C (p.Cys465Ser) c.1601G>C (p.Cys534Ser) c.*1527G>C (n.*1527G>C) c.1604G>C (p.Cys535Ser) c.275G>C (p.Cys92Ser) c.494G>C (p.Cys165Ser) c.*1524G>C (n.*1524G>C) n.2132G>C n.712G>C n.2608G>C n.722G>C c.*996G>C (n.*996G>C) n.2633G>C n.821G>C c.1391G>C (p.Cys464Ser) | dbSNP |
| 9 | g.132905821C>T | CA375363755 | TSC1 | c.1754G>A (p.Cys585Tyr) c.1757G>A (p.Cys586Tyr) c.1370G>A (p.Cys457Tyr) c.1394G>A (p.Cys465Tyr) c.1601G>A (p.Cys534Tyr) c.*1527G>A (n.*1527G>A) c.1604G>A (p.Cys535Tyr) c.275G>A (p.Cys92Tyr) c.494G>A (p.Cys165Tyr) c.*1524G>A (n.*1524G>A) n.2132G>A n.712G>A n.2608G>A n.722G>A c.*996G>A (n.*996G>A) n.2633G>A n.821G>A c.1391G>A (p.Cys464Tyr) | ClinVar dbSNP |
| 9 | g.132905822A= | CA1882414133 | TSC1 | c.1753T= (p.Cys585=) c.1756T= (p.Cys586=) c.1369T= (p.Cys457=) c.1393T= (p.Cys465=) c.1600T= (p.Cys534=) c.*1526T= (n.*1526T=) c.1603T= (p.Cys535=) c.274T= (p.Cys92=) c.493T= (p.Cys165=) c.*1523T= (n.*1523T=) n.2131T= n.711T= n.2607T= n.721T= c.*995T= (n.*995T=) n.2632T= n.820T= c.1390T= (p.Cys464=) | |
| 9 | g.132905822A>C | CA375363759 | TSC1 | c.1753T>G (p.Cys585Gly) c.1756T>G (p.Cys586Gly) c.1369T>G (p.Cys457Gly) c.1393T>G (p.Cys465Gly) c.1600T>G (p.Cys534Gly) c.*1526T>G (n.*1526T>G) c.1603T>G (p.Cys535Gly) c.274T>G (p.Cys92Gly) c.493T>G (p.Cys165Gly) c.*1523T>G (n.*1523T>G) n.2131T>G n.711T>G n.2607T>G n.721T>G c.*995T>G (n.*995T>G) n.2632T>G n.820T>G c.1390T>G (p.Cys464Gly) | |
| 9 | g.132905822A>G | CA029644 | TSC1 | c.1753T>C (p.Cys585Arg) c.1756T>C (p.Cys586Arg) c.1369T>C (p.Cys457Arg) c.1393T>C (p.Cys465Arg) c.1600T>C (p.Cys534Arg) c.*1526T>C (n.*1526T>C) c.1603T>C (p.Cys535Arg) c.274T>C (p.Cys92Arg) c.493T>C (p.Cys165Arg) c.*1523T>C (n.*1523T>C) n.2131T>C n.711T>C n.2607T>C n.721T>C c.*995T>C (n.*995T>C) n.2632T>C n.820T>C c.1390T>C (p.Cys464Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.132905822A>T | CA375363760 | TSC1 | c.1753T>A (p.Cys585Ser) c.1756T>A (p.Cys586Ser) c.1369T>A (p.Cys457Ser) c.1393T>A (p.Cys465Ser) c.1600T>A (p.Cys534Ser) c.*1526T>A (n.*1526T>A) c.1603T>A (p.Cys535Ser) c.274T>A (p.Cys92Ser) c.493T>A (p.Cys165Ser) c.*1523T>A (n.*1523T>A) n.2131T>A n.711T>A n.2607T>A n.721T>A c.*995T>A (n.*995T>A) n.2632T>A n.820T>A c.1390T>A (p.Cys464Ser) | dbSNP |
| 9 | g.132905823del | CA2695203347 | TSC1 | c.1753del (p.Cys585ValfsTer?) c.1756del (p.Cys586ValfsTer?) c.1369del (p.Cys457ValfsTer?) c.1393del (p.Cys465ValfsTer?) c.1600del (p.Cys534ValfsTer?) c.*1526del (n.*1526del) c.1603del (p.Cys535ValfsTer?) c.274del (p.Cys92ValfsTer?) c.493del (p.Cys165ValfsTer?) c.*1523del (n.*1523del) n.2131del n.711del n.2607del n.721del c.*995del (n.*995del) n.2632del n.820del c.1390del (p.Cys464ValfsTer?) | |
| 9 | g.132905823A>C | CA467813301 | TSC1 | c.1752T>G (p.Pro584=) c.1755T>G (p.Pro585=) c.1368T>G (p.Pro456=) c.1392T>G (p.Pro464=) c.1599T>G (p.Pro533=) c.*1525T>G (n.*1525T>G) c.1602T>G (p.Pro534=) c.273T>G (p.Pro91=) c.492T>G (p.Pro164=) c.*1522T>G (n.*1522T>G) n.2130T>G n.710T>G n.2606T>G n.720T>G c.*994T>G (n.*994T>G) n.2631T>G n.819T>G c.1389T>G (p.Pro463=) | |
| 9 | g.132905823A>G | CA467813302 | TSC1 | c.1752T>C (p.Pro584=) c.1755T>C (p.Pro585=) c.1368T>C (p.Pro456=) c.1392T>C (p.Pro464=) c.1599T>C (p.Pro533=) c.*1525T>C (n.*1525T>C) c.1602T>C (p.Pro534=) c.273T>C (p.Pro91=) c.492T>C (p.Pro164=) c.*1522T>C (n.*1522T>C) n.2130T>C n.710T>C n.2606T>C n.720T>C c.*994T>C (n.*994T>C) n.2631T>C n.819T>C c.1389T>C (p.Pro463=) | dbSNP |
| 9 | g.132905823A>T | CA467813303 | TSC1 | c.1752T>A (p.Pro584=) c.1755T>A (p.Pro585=) c.1368T>A (p.Pro456=) c.1392T>A (p.Pro464=) c.1599T>A (p.Pro533=) c.*1525T>A (n.*1525T>A) c.1602T>A (p.Pro534=) c.273T>A (p.Pro91=) c.492T>A (p.Pro164=) c.*1522T>A (n.*1522T>A) n.2130T>A n.710T>A n.2606T>A n.720T>A c.*994T>A (n.*994T>A) n.2631T>A n.819T>A c.1389T>A (p.Pro463=) | dbSNP |
| 9 | g.132905824G>A | CA375363764 | TSC1 | c.1751C>T (p.Pro584Leu) c.1754C>T (p.Pro585Leu) c.1367C>T (p.Pro456Leu) c.1391C>T (p.Pro464Leu) c.1598C>T (p.Pro533Leu) c.*1524C>T (n.*1524C>T) c.1601C>T (p.Pro534Leu) c.272C>T (p.Pro91Leu) c.491C>T (p.Pro164Leu) c.*1521C>T (n.*1521C>T) n.2129C>T n.709C>T n.2605C>T n.719C>T c.*993C>T (n.*993C>T) n.2630C>T n.818C>T c.1388C>T (p.Pro463Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.132905824G>C | CA375363767 | TSC1 | c.1751C>G (p.Pro584Arg) c.1754C>G (p.Pro585Arg) c.1367C>G (p.Pro456Arg) c.1391C>G (p.Pro464Arg) c.1598C>G (p.Pro533Arg) c.*1524C>G (n.*1524C>G) c.1601C>G (p.Pro534Arg) c.272C>G (p.Pro91Arg) c.491C>G (p.Pro164Arg) c.*1521C>G (n.*1521C>G) n.2129C>G n.709C>G n.2605C>G n.719C>G c.*993C>G (n.*993C>G) n.2630C>G n.818C>G c.1388C>G (p.Pro463Arg) | dbSNP |
| 9 | g.132905824G= | CA1882414138 | TSC1 | c.1751C= (p.Pro584=) c.1754C= (p.Pro585=) c.1367C= (p.Pro456=) c.1391C= (p.Pro464=) c.1598C= (p.Pro533=) c.*1524C= (n.*1524C=) c.1601C= (p.Pro534=) c.272C= (p.Pro91=) c.491C= (p.Pro164=) c.*1521C= (n.*1521C=) n.2129C= n.709C= n.2605C= n.719C= c.*993C= (n.*993C=) n.2630C= n.818C= c.1388C= (p.Pro463=) | |
| 9 | g.132905824G>T | CA375363770 | TSC1 | c.1751C>A (p.Pro584His) c.1754C>A (p.Pro585His) c.1367C>A (p.Pro456His) c.1391C>A (p.Pro464His) c.1598C>A (p.Pro533His) c.*1524C>A (n.*1524C>A) c.1601C>A (p.Pro534His) c.272C>A (p.Pro91His) c.491C>A (p.Pro164His) c.*1521C>A (n.*1521C>A) n.2129C>A n.709C>A n.2605C>A n.719C>A c.*993C>A (n.*993C>A) n.2630C>A n.818C>A c.1388C>A (p.Pro463His) | dbSNP |
| 9 | g.132905825G>A | CA029621 | TSC1 | c.1750C>T (p.Pro584Ser) c.1753C>T (p.Pro585Ser) c.1366C>T (p.Pro456Ser) c.1390C>T (p.Pro464Ser) c.1597C>T (p.Pro533Ser) c.*1523C>T (n.*1523C>T) c.1600C>T (p.Pro534Ser) c.271C>T (p.Pro91Ser) c.490C>T (p.Pro164Ser) c.*1520C>T (n.*1520C>T) n.2128C>T n.708C>T n.2604C>T n.718C>T c.*992C>T (n.*992C>T) n.2629C>T n.817C>T c.1387C>T (p.Pro463Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.132905825G>C | CA375363775 | TSC1 | c.1750C>G (p.Pro584Ala) c.1753C>G (p.Pro585Ala) c.1366C>G (p.Pro456Ala) c.1390C>G (p.Pro464Ala) c.1597C>G (p.Pro533Ala) c.*1523C>G (n.*1523C>G) c.1600C>G (p.Pro534Ala) c.271C>G (p.Pro91Ala) c.490C>G (p.Pro164Ala) c.*1520C>G (n.*1520C>G) n.2128C>G n.708C>G n.2604C>G n.718C>G c.*992C>G (n.*992C>G) n.2629C>G n.817C>G c.1387C>G (p.Pro463Ala) | dbSNP COSMIC |
| 9 | g.132905825G= | CA1882414143 | TSC1 | c.1750C= (p.Pro584=) c.1753C= (p.Pro585=) c.1366C= (p.Pro456=) c.1390C= (p.Pro464=) c.1597C= (p.Pro533=) c.*1523C= (n.*1523C=) c.1600C= (p.Pro534=) c.271C= (p.Pro91=) c.490C= (p.Pro164=) c.*1520C= (n.*1520C=) n.2128C= n.708C= n.2604C= n.718C= c.*992C= (n.*992C=) n.2629C= n.817C= c.1387C= (p.Pro463=) | |
| 9 | g.132905825G>T | CA375363779 | TSC1 | c.1750C>A (p.Pro584Thr) c.1753C>A (p.Pro585Thr) c.1366C>A (p.Pro456Thr) c.1390C>A (p.Pro464Thr) c.1597C>A (p.Pro533Thr) c.*1523C>A (n.*1523C>A) c.1600C>A (p.Pro534Thr) c.271C>A (p.Pro91Thr) c.490C>A (p.Pro164Thr) c.*1520C>A (n.*1520C>A) n.2128C>A n.708C>A n.2604C>A n.718C>A c.*992C>A (n.*992C>A) n.2629C>A n.817C>A c.1387C>A (p.Pro463Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.132905826A= | CA1882414147 | TSC1 | c.1749T= (p.Ser583=) c.1752T= (p.Ser584=) c.1365T= (p.Ser455=) c.1389T= (p.Ser463=) c.1596T= (p.Ser532=) c.*1522T= (n.*1522T=) c.1599T= (p.Ser533=) c.270T= (p.Ser90=) c.489T= (p.Ser163=) c.*1519T= (n.*1519T=) n.2127T= n.707T= n.2603T= n.717T= c.*991T= (n.*991T=) n.2628T= n.816T= c.1386T= (p.Ser462=) | |
| 9 | g.132905826A>C | CA375363781 | TSC1 | c.1749T>G (p.Ser583Arg) c.1752T>G (p.Ser584Arg) c.1365T>G (p.Ser455Arg) c.1389T>G (p.Ser463Arg) c.1596T>G (p.Ser532Arg) c.*1522T>G (n.*1522T>G) c.1599T>G (p.Ser533Arg) c.270T>G (p.Ser90Arg) c.489T>G (p.Ser163Arg) c.*1519T>G (n.*1519T>G) n.2127T>G n.707T>G n.2603T>G n.717T>G c.*991T>G (n.*991T>G) n.2628T>G n.816T>G c.1386T>G (p.Ser462Arg) | ClinVar dbSNP |
| 9 | g.132905826A>G | CA467813306 | TSC1 | c.1749T>C (p.Ser583=) c.1752T>C (p.Ser584=) c.1365T>C (p.Ser455=) c.1389T>C (p.Ser463=) c.1596T>C (p.Ser532=) c.*1522T>C (n.*1522T>C) c.1599T>C (p.Ser533=) c.270T>C (p.Ser90=) c.489T>C (p.Ser163=) c.*1519T>C (n.*1519T>C) n.2127T>C n.707T>C n.2603T>C n.717T>C c.*991T>C (n.*991T>C) n.2628T>C n.816T>C c.1386T>C (p.Ser462=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.132905826A>T | CA375363783 | TSC1 | c.1749T>A (p.Ser583Arg) c.1752T>A (p.Ser584Arg) c.1365T>A (p.Ser455Arg) c.1389T>A (p.Ser463Arg) c.1596T>A (p.Ser532Arg) c.*1522T>A (n.*1522T>A) c.1599T>A (p.Ser533Arg) c.270T>A (p.Ser90Arg) c.489T>A (p.Ser163Arg) c.*1519T>A (n.*1519T>A) n.2127T>A n.707T>A n.2603T>A n.717T>A c.*991T>A (n.*991T>A) n.2628T>A n.816T>A c.1386T>A (p.Ser462Arg) | dbSNP |
| 9 | g.132905827C>A | CA375363786 | TSC1 | c.1748G>T (p.Ser583Ile) c.1751G>T (p.Ser584Ile) c.1364G>T (p.Ser455Ile) c.1388G>T (p.Ser463Ile) c.1595G>T (p.Ser532Ile) c.*1521G>T (n.*1521G>T) c.1598G>T (p.Ser533Ile) c.269G>T (p.Ser90Ile) c.488G>T (p.Ser163Ile) c.*1518G>T (n.*1518G>T) n.2126G>T n.706G>T n.2602G>T n.716G>T c.*990G>T (n.*990G>T) n.2627G>T n.815G>T c.1385G>T (p.Ser462Ile) | dbSNP |
| 9 | g.132905827C= | CA1882414152 | TSC1 | c.1748G= (p.Ser583=) c.1751G= (p.Ser584=) c.1364G= (p.Ser455=) c.1388G= (p.Ser463=) c.1595G= (p.Ser532=) c.*1521G= (n.*1521G=) c.1598G= (p.Ser533=) c.269G= (p.Ser90=) c.488G= (p.Ser163=) c.*1518G= (n.*1518G=) n.2126G= n.706G= n.2602G= n.716G= c.*990G= (n.*990G=) n.2627G= n.815G= c.1385G= (p.Ser462=) | |
| 9 | g.132905827C>G | CA005341 | TSC1 | c.1748G>C (p.Ser583Thr) c.1751G>C (p.Ser584Thr) c.1364G>C (p.Ser455Thr) c.1388G>C (p.Ser463Thr) c.1595G>C (p.Ser532Thr) c.*1521G>C (n.*1521G>C) c.1598G>C (p.Ser533Thr) c.269G>C (p.Ser90Thr) c.488G>C (p.Ser163Thr) c.*1518G>C (n.*1518G>C) n.2126G>C n.706G>C n.2602G>C n.716G>C c.*990G>C (n.*990G>C) n.2627G>C n.815G>C c.1385G>C (p.Ser462Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132905827C>T | CA375363790 | TSC1 | c.1748G>A (p.Ser583Asn) c.1751G>A (p.Ser584Asn) c.1364G>A (p.Ser455Asn) c.1388G>A (p.Ser463Asn) c.1595G>A (p.Ser532Asn) c.*1521G>A (n.*1521G>A) c.1598G>A (p.Ser533Asn) c.269G>A (p.Ser90Asn) c.488G>A (p.Ser163Asn) c.*1518G>A (n.*1518G>A) n.2126G>A n.706G>A n.2602G>A n.716G>A c.*990G>A (n.*990G>A) n.2627G>A n.815G>A c.1385G>A (p.Ser462Asn) | dbSNP |
| 9 | g.132905827_132905829delinsCTG | CA1882414150 | TSC1 | c.1746_1748delinsCAG (p.Pro582=) c.1749_1751delinsCAG (p.Pro583=) c.1362_1364delinsCAG (p.Pro454=) c.1386_1388delinsCAG (p.Pro462=) c.1593_1595delinsCAG (p.Pro531=) c.*1519_*1521delinsCAG (n.*1519_*1521delinsCAG) c.1596_1598delinsCAG (p.Pro532=) c.267_269delinsCAG (p.Pro89=) c.486_488delinsCAG (p.Pro162=) c.*1516_*1518delinsCAG (n.*1516_*1518delinsCAG) n.2124_2126delinsCAG n.704_706delinsCAG n.2600_2602delinsCAG n.714_716delinsCAG c.*988_*990delinsCAG (n.*988_*990delinsCAG) n.2625_2627delinsCAG n.813_815delinsCAG c.1383_1385delinsCAG (p.Pro461=) | |
| 9 | g.132905828T>A | CA375363799 | TSC1 | c.1747A>T (p.Ser583Cys) c.1750A>T (p.Ser584Cys) c.1363A>T (p.Ser455Cys) c.1387A>T (p.Ser463Cys) c.1594A>T (p.Ser532Cys) c.*1520A>T (n.*1520A>T) c.1597A>T (p.Ser533Cys) c.268A>T (p.Ser90Cys) c.487A>T (p.Ser163Cys) c.*1517A>T (n.*1517A>T) n.2125A>T n.705A>T n.2601A>T n.715A>T c.*989A>T (n.*989A>T) n.2626A>T n.814A>T c.1384A>T (p.Ser462Cys) | |
| 9 | g.132905828T>C | CA375363795 | TSC1 | c.1747A>G (p.Ser583Gly) c.1750A>G (p.Ser584Gly) c.1363A>G (p.Ser455Gly) c.1387A>G (p.Ser463Gly) c.1594A>G (p.Ser532Gly) c.*1520A>G (n.*1520A>G) c.1597A>G (p.Ser533Gly) c.268A>G (p.Ser90Gly) c.487A>G (p.Ser163Gly) c.*1517A>G (n.*1517A>G) n.2125A>G n.705A>G n.2601A>G n.715A>G c.*989A>G (n.*989A>G) n.2626A>G n.814A>G c.1384A>G (p.Ser462Gly) |