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.132905600_132905619dup | CA2499219709 | TSC1 | c.1962_1981dup (p.Lys661ArgfsTer10) c.1965_1984dup (p.Lys662ArgfsTer10) c.1578_1597dup (p.Lys533ArgfsTer10) c.1602_1621dup (p.Lys541ArgfsTer10) c.1809_1828dup (p.Lys610ArgfsTer10) c.29_48dup c.*1735_*1754dup (n.*1735_*1754dup) c.1812_1831dup (p.Lys611ArgfsTer10) c.483_502dup (p.Lys168ArgfsTer10) c.9_28dup (p.Lys10ArgfsTer10) c.702_721dup (p.Lys241ArgfsTer10) c.*1732_*1751dup (n.*1732_*1751dup) n.2340_2359dup n.920_939dup n.2816_2835dup n.930_949dup c.*1204_*1223dup (n.*1204_*1223dup) n.2841_2860dup n.1029_1048dup c.1599_1618dup (p.Lys540ArgfsTer10) | ClinVar dbSNP |
| 9 | g.132905606_132905619del | CA2580079897 | TSC1 | c.1958_1971del (p.Gln653ArgfsTer29) c.1961_1974del (p.Gln654ArgfsTer29) c.1961_1974del (p.Gln654ArgfsTer?) c.1574_1587del (p.Gln525ArgfsTer29) c.1961_1974del (p.Gln654ArgfsTer27) c.1598_1611del (p.Gln533ArgfsTer29) c.1805_1818del (p.Gln602ArgfsTer29) c.25_38del c.1958_1971del (p.Gln653ArgfsTer24) c.*1731_*1744del (n.*1731_*1744del) c.1808_1821del (p.Gln603ArgfsTer29) c.479_492del (p.Gln160ArgfsTer?) c.1961_1974del (p.Gln654ArgfsTer24) c.5_18del (p.Gln2ArgfsTer27) c.698_711del (p.Gln233ArgfsTer29) c.*1728_*1741del (n.*1728_*1741del) n.2336_2349del n.916_929del n.2812_2825del n.926_939del c.*1200_*1213del (n.*1200_*1213del) n.2837_2850del n.1025_1038del c.1961_1974del (p.Gln654ArgfsTer15) c.1595_1608del (p.Gln532ArgfsTer29) | ClinVar |
| 9 | g.132905615G>A | CA005663 | TSC1 | c.1960C>T (p.Gln654Ter) c.1963C>T (p.Gln655Ter) c.1576C>T (p.Gln526Ter) c.1600C>T (p.Gln534Ter) c.1807C>T (p.Gln603Ter) c.27C>T c.*1733C>T (n.*1733C>T) c.1810C>T (p.Gln604Ter) c.481C>T (p.Gln161Ter) c.7C>T (p.Gln3Ter) c.700C>T (p.Gln234Ter) c.*1730C>T (n.*1730C>T) n.2338C>T n.918C>T n.2814C>T n.928C>T c.*1202C>T (n.*1202C>T) n.2839C>T n.1027C>T c.1597C>T (p.Gln533Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.132905615G>C | CA375362368 | TSC1 | c.1960C>G (p.Gln654Glu) c.1963C>G (p.Gln655Glu) c.1576C>G (p.Gln526Glu) c.1600C>G (p.Gln534Glu) c.1807C>G (p.Gln603Glu) c.27C>G c.*1733C>G (n.*1733C>G) c.1810C>G (p.Gln604Glu) c.481C>G (p.Gln161Glu) c.7C>G (p.Gln3Glu) c.700C>G (p.Gln234Glu) c.*1730C>G (n.*1730C>G) n.2338C>G n.918C>G n.2814C>G n.928C>G c.*1202C>G (n.*1202C>G) n.2839C>G n.1027C>G c.1597C>G (p.Gln533Glu) | dbSNP |
| 9 | g.132905615G= | CA1882413436 | TSC1 | c.1960C= (p.Gln654=) c.1963C= (p.Gln655=) c.1576C= (p.Gln526=) c.1600C= (p.Gln534=) c.1807C= (p.Gln603=) c.27C= c.*1733C= (n.*1733C=) c.1810C= (p.Gln604=) c.481C= (p.Gln161=) c.7C= (p.Gln3=) c.700C= (p.Gln234=) c.*1730C= (n.*1730C=) n.2338C= n.918C= n.2814C= n.928C= c.*1202C= (n.*1202C=) n.2839C= n.1027C= c.1597C= (p.Gln533=) | |
| 9 | g.132905615G>T | CA375362373 | TSC1 | c.1960C>A (p.Gln654Lys) c.1963C>A (p.Gln655Lys) c.1576C>A (p.Gln526Lys) c.1600C>A (p.Gln534Lys) c.1807C>A (p.Gln603Lys) c.27C>A c.*1733C>A (n.*1733C>A) c.1810C>A (p.Gln604Lys) c.481C>A (p.Gln161Lys) c.7C>A (p.Gln3Lys) c.700C>A (p.Gln234Lys) c.*1730C>A (n.*1730C>A) n.2338C>A n.918C>A n.2814C>A n.928C>A c.*1202C>A (n.*1202C>A) n.2839C>A n.1027C>A c.1597C>A (p.Gln533Lys) | dbSNP |
| 9 | g.132905616C>A | CA375362378 | TSC1 | c.1959G>T (p.Gln653His) c.1962G>T (p.Gln654His) c.1575G>T (p.Gln525His) c.1599G>T (p.Gln533His) c.1806G>T (p.Gln602His) c.26G>T c.*1732G>T (n.*1732G>T) c.1809G>T (p.Gln603His) c.480G>T (p.Gln160His) c.6G>T (p.Gln2His) c.699G>T (p.Gln233His) c.*1729G>T (n.*1729G>T) n.2337G>T n.917G>T n.2813G>T n.927G>T c.*1201G>T (n.*1201G>T) n.2838G>T n.1026G>T c.1596G>T (p.Gln532His) | |
| 9 | g.132905616C= | CA1882413440 | TSC1 | c.1959G= (p.Gln653=) c.1962G= (p.Gln654=) c.1575G= (p.Gln525=) c.1599G= (p.Gln533=) c.1806G= (p.Gln602=) c.26G= c.*1732G= (n.*1732G=) c.1809G= (p.Gln603=) c.480G= (p.Gln160=) c.6G= (p.Gln2=) c.699G= (p.Gln233=) c.*1729G= (n.*1729G=) n.2337G= n.917G= n.2813G= n.927G= c.*1201G= (n.*1201G=) n.2838G= n.1026G= c.1596G= (p.Gln532=) | |
| 9 | g.132905616C>G | CA375362380 | TSC1 | c.1959G>C (p.Gln653His) c.1962G>C (p.Gln654His) c.1575G>C (p.Gln525His) c.1599G>C (p.Gln533His) c.1806G>C (p.Gln602His) c.26G>C c.*1732G>C (n.*1732G>C) c.1809G>C (p.Gln603His) c.480G>C (p.Gln160His) c.6G>C (p.Gln2His) c.699G>C (p.Gln233His) c.*1729G>C (n.*1729G>C) n.2337G>C n.917G>C n.2813G>C n.927G>C c.*1201G>C (n.*1201G>C) n.2838G>C n.1026G>C c.1596G>C (p.Gln532His) | ClinVar dbSNP |
| 9 | g.132905616C>T | CA467812903 | TSC1 | c.1959G>A (p.Gln653=) c.1962G>A (p.Gln654=) c.1575G>A (p.Gln525=) c.1599G>A (p.Gln533=) c.1806G>A (p.Gln602=) c.26G>A c.*1732G>A (n.*1732G>A) c.1809G>A (p.Gln603=) c.480G>A (p.Gln160=) c.6G>A (p.Gln2=) c.699G>A (p.Gln233=) c.*1729G>A (n.*1729G>A) n.2337G>A n.917G>A n.2813G>A n.927G>A c.*1201G>A (n.*1201G>A) n.2838G>A n.1026G>A c.1596G>A (p.Gln532=) | ClinVar dbSNP |
| 9 | g.132905617T>A | CA375362384 | TSC1 | c.1958A>T (p.Gln653Leu) c.1961A>T (p.Gln654Leu) c.1574A>T (p.Gln525Leu) c.1598A>T (p.Gln533Leu) c.1805A>T (p.Gln602Leu) c.25A>T c.*1731A>T (n.*1731A>T) c.1808A>T (p.Gln603Leu) c.479A>T (p.Gln160Leu) c.5A>T (p.Gln2Leu) c.698A>T (p.Gln233Leu) c.*1728A>T (n.*1728A>T) n.2336A>T n.916A>T n.2812A>T n.926A>T c.*1200A>T (n.*1200A>T) n.2837A>T n.1025A>T c.1595A>T (p.Gln532Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132905617T>C | CA375362387 | TSC1 | c.1958A>G (p.Gln653Arg) c.1961A>G (p.Gln654Arg) c.1574A>G (p.Gln525Arg) c.1598A>G (p.Gln533Arg) c.1805A>G (p.Gln602Arg) c.25A>G c.*1731A>G (n.*1731A>G) c.1808A>G (p.Gln603Arg) c.479A>G (p.Gln160Arg) c.5A>G (p.Gln2Arg) c.698A>G (p.Gln233Arg) c.*1728A>G (n.*1728A>G) n.2336A>G n.916A>G n.2812A>G n.926A>G c.*1200A>G (n.*1200A>G) n.2837A>G n.1025A>G c.1595A>G (p.Gln532Arg) | ClinVar dbSNP |
| 9 | g.132905617T>G | CA375362390 | TSC1 | c.1958A>C (p.Gln653Pro) c.1961A>C (p.Gln654Pro) c.1574A>C (p.Gln525Pro) c.1598A>C (p.Gln533Pro) c.1805A>C (p.Gln602Pro) c.25A>C c.*1731A>C (n.*1731A>C) c.1808A>C (p.Gln603Pro) c.479A>C (p.Gln160Pro) c.5A>C (p.Gln2Pro) c.698A>C (p.Gln233Pro) c.*1728A>C (n.*1728A>C) n.2336A>C n.916A>C n.2812A>C n.926A>C c.*1200A>C (n.*1200A>C) n.2837A>C n.1025A>C c.1595A>C (p.Gln532Pro) | |
| 9 | g.132905617T= | CA1882413442 | TSC1 | c.1958A= (p.Gln653=) c.1961A= (p.Gln654=) c.1574A= (p.Gln525=) c.1598A= (p.Gln533=) c.1805A= (p.Gln602=) c.25A= c.*1731A= (n.*1731A=) c.1808A= (p.Gln603=) c.479A= (p.Gln160=) c.5A= (p.Gln2=) c.698A= (p.Gln233=) c.*1728A= (n.*1728A=) n.2336A= n.916A= n.2812A= n.926A= c.*1200A= (n.*1200A=) n.2837A= n.1025A= c.1595A= (p.Gln532=) | |
| 9 | g.132905617_132905622delinsTGTATC | CA1882413443 | TSC1 | c.1953_1958delinsGATACA (p.Leu651=) c.1956_1961delinsGATACA (p.Leu652=) c.1569_1574delinsGATACA (p.Leu523=) c.1593_1598delinsGATACA (p.Leu531=) c.1800_1805delinsGATACA (p.Leu600=) c.20_25delinsGATACA c.*1726_*1731delinsGATACA (n.*1726_*1731delinsGATACA) c.1803_1808delinsGATACA (p.Leu601=) c.474_479delinsGATACA (p.Leu158=) c.693_698delinsGATACA (p.Leu231=) c.*1723_*1728delinsGATACA (n.*1723_*1728delinsGATACA) n.2331_2336delinsGATACA n.911_916delinsGATACA n.2807_2812delinsGATACA n.921_926delinsGATACA c.*1195_*1200delinsGATACA (n.*1195_*1200delinsGATACA) n.2832_2837delinsGATACA n.1020_1025delinsGATACA c.1590_1595delinsGATACA (p.Leu530=) | |
| 9 | g.132905618G>A | CA005658 | TSC1 | c.1957C>T (p.Gln653Ter) c.1960C>T (p.Gln654Ter) c.1573C>T (p.Gln525Ter) c.1597C>T (p.Gln533Ter) c.1804C>T (p.Gln602Ter) c.24C>T c.*1730C>T (n.*1730C>T) c.1807C>T (p.Gln603Ter) c.478C>T (p.Gln160Ter) c.4C>T (p.Gln2Ter) c.697C>T (p.Gln233Ter) c.*1727C>T (n.*1727C>T) n.2335C>T n.915C>T n.2811C>T n.925C>T c.*1199C>T (n.*1199C>T) n.2836C>T n.1024C>T c.1594C>T (p.Gln532Ter) | ClinVar dbSNP |
| 9 | g.132905618G>C | CA005650 | TSC1 | c.1957C>G (p.Gln653Glu) c.1960C>G (p.Gln654Glu) c.1573C>G (p.Gln525Glu) c.1597C>G (p.Gln533Glu) c.1804C>G (p.Gln602Glu) c.24C>G c.*1730C>G (n.*1730C>G) c.1807C>G (p.Gln603Glu) c.478C>G (p.Gln160Glu) c.4C>G (p.Gln2Glu) c.697C>G (p.Gln233Glu) c.*1727C>G (n.*1727C>G) n.2335C>G n.915C>G n.2811C>G n.925C>G c.*1199C>G (n.*1199C>G) n.2836C>G n.1024C>G c.1594C>G (p.Gln532Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132905618G= | CA1882413450 | TSC1 | c.1957C= (p.Gln653=) c.1960C= (p.Gln654=) c.1573C= (p.Gln525=) c.1597C= (p.Gln533=) c.1804C= (p.Gln602=) c.24C= c.*1730C= (n.*1730C=) c.1807C= (p.Gln603=) c.478C= (p.Gln160=) c.4C= (p.Gln2=) c.697C= (p.Gln233=) c.*1727C= (n.*1727C=) n.2335C= n.915C= n.2811C= n.925C= c.*1199C= (n.*1199C=) n.2836C= n.1024C= c.1594C= (p.Gln532=) | |
| 9 | g.132905618G>T | CA375362402 | TSC1 | c.1957C>A (p.Gln653Lys) c.1960C>A (p.Gln654Lys) c.1573C>A (p.Gln525Lys) c.1597C>A (p.Gln533Lys) c.1804C>A (p.Gln602Lys) c.24C>A c.*1730C>A (n.*1730C>A) c.1807C>A (p.Gln603Lys) c.478C>A (p.Gln160Lys) c.4C>A (p.Gln2Lys) c.697C>A (p.Gln233Lys) c.*1727C>A (n.*1727C>A) n.2335C>A n.915C>A n.2811C>A n.925C>A c.*1199C>A (n.*1199C>A) n.2836C>A n.1024C>A c.1594C>A (p.Gln532Lys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.132905618_132905620delinsGTA | CA1882413453 | TSC1 | c.1955_1957delinsTAC (p.Ile652=) c.1958_1960delinsTAC (p.Ile653=) c.1571_1573delinsTAC (p.Ile524=) c.1595_1597delinsTAC (p.Ile532=) c.1802_1804delinsTAC (p.Ile601=) c.22_24delinsTAC c.*1728_*1730delinsTAC (n.*1728_*1730delinsTAC) c.1805_1807delinsTAC (p.Ile602=) c.476_478delinsTAC (p.Ile159=) c.2_4delinsTAC (p.Ile1=) c.695_697delinsTAC (p.Ile232=) c.*1725_*1727delinsTAC (n.*1725_*1727delinsTAC) n.2333_2335delinsTAC n.913_915delinsTAC n.2809_2811delinsTAC n.923_925delinsTAC c.*1197_*1199delinsTAC (n.*1197_*1199delinsTAC) n.2834_2836delinsTAC n.1022_1024delinsTAC c.1592_1594delinsTAC (p.Ile531=) | |
| 9 | g.132905618_132905622delinsCCCTGA | CA1139661276 | TSC1 | c.1953_1957delinsTCAGGG (p.Ile652GlnfsTer?) c.1956_1960delinsTCAGGG (p.Ile653GlnfsTer?) c.1569_1573delinsTCAGGG (p.Ile524GlnfsTer?) c.1593_1597delinsTCAGGG (p.Ile532GlnfsTer?) c.1800_1804delinsTCAGGG (p.Ile601GlnfsTer?) c.20_24delinsTCAGGG c.1953_1957delinsTCAGGG (p.Ile652GlnfsTer30) c.*1726_*1730delinsTCAGGG (n.*1726_*1730delinsTCAGGG) c.1803_1807delinsTCAGGG (p.Ile602GlnfsTer?) c.474_478delinsTCAGGG (p.Ile159GlnfsTer?) c.1956_1960delinsTCAGGG (p.Ile653GlnfsTer30) c.693_697delinsTCAGGG (p.Ile232GlnfsTer?) c.*1723_*1727delinsTCAGGG (n.*1723_*1727delinsTCAGGG) n.2331_2335delinsTCAGGG n.911_915delinsTCAGGG n.2807_2811delinsTCAGGG n.921_925delinsTCAGGG c.*1195_*1199delinsTCAGGG (n.*1195_*1199delinsTCAGGG) n.2832_2836delinsTCAGGG n.1020_1024delinsTCAGGG c.1956_1960delinsTCAGGG (p.Ile653GlnfsTer21) c.1590_1594delinsTCAGGG (p.Ile531GlnfsTer?) | ClinVar dbSNP |
| 9 | g.132905619T>A | CA467812905 | TSC1 | c.1956A>T (p.Ile652=) c.1959A>T (p.Ile653=) c.1572A>T (p.Ile524=) c.1596A>T (p.Ile532=) c.1803A>T (p.Ile601=) c.23A>T c.*1729A>T (n.*1729A>T) c.1806A>T (p.Ile602=) c.477A>T (p.Ile159=) c.3A>T (p.Ile1=) c.696A>T (p.Ile232=) c.*1726A>T (n.*1726A>T) n.2334A>T n.914A>T n.2810A>T n.924A>T c.*1198A>T (n.*1198A>T) n.2835A>T n.1023A>T c.1593A>T (p.Ile531=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132905619T>C | CA375362407 | TSC1 | c.1956A>G (p.Ile652Met) c.1959A>G (p.Ile653Met) c.1572A>G (p.Ile524Met) c.1596A>G (p.Ile532Met) c.1803A>G (p.Ile601Met) c.23A>G c.*1729A>G (n.*1729A>G) c.1806A>G (p.Ile602Met) c.477A>G (p.Ile159Met) c.3A>G (p.Ile1Met) c.696A>G (p.Ile232Met) c.*1726A>G (n.*1726A>G) n.2334A>G n.914A>G n.2810A>G n.924A>G c.*1198A>G (n.*1198A>G) n.2835A>G n.1023A>G c.1593A>G (p.Ile531Met) | |
| 9 | g.132905619T>G | CA467812906 | TSC1 | c.1956A>C (p.Ile652=) c.1959A>C (p.Ile653=) c.1572A>C (p.Ile524=) c.1596A>C (p.Ile532=) c.1803A>C (p.Ile601=) c.23A>C c.*1729A>C (n.*1729A>C) c.1806A>C (p.Ile602=) c.477A>C (p.Ile159=) c.3A>C (p.Ile1=) c.696A>C (p.Ile232=) c.*1726A>C (n.*1726A>C) n.2334A>C n.914A>C n.2810A>C n.924A>C c.*1198A>C (n.*1198A>C) n.2835A>C n.1023A>C c.1593A>C (p.Ile531=) | |
| 9 | g.132905619T= | CA1882413465 | TSC1 | c.1956A= (p.Ile652=) c.1959A= (p.Ile653=) c.1572A= (p.Ile524=) c.1596A= (p.Ile532=) c.1803A= (p.Ile601=) c.23A= c.*1729A= (n.*1729A=) c.1806A= (p.Ile602=) c.477A= (p.Ile159=) c.3A= (p.Ile1=) c.696A= (p.Ile232=) c.*1726A= (n.*1726A=) n.2334A= n.914A= n.2810A= n.924A= c.*1198A= (n.*1198A=) n.2835A= n.1023A= c.1593A= (p.Ile531=) | |
| 9 | g.132905619dup | CA262220 | TSC1 | c.1956dup (p.Gln653ThrfsTer?) c.1959dup (p.Gln654ThrfsTer?) c.1572dup (p.Gln525ThrfsTer?) c.1596dup (p.Gln533ThrfsTer?) c.1803dup (p.Gln602ThrfsTer?) c.23dup c.1956dup (p.Gln653ThrfsTer29) c.*1729dup (n.*1729dup) c.1806dup (p.Gln603ThrfsTer?) c.477dup (p.Gln160ThrfsTer?) c.1959dup (p.Gln654ThrfsTer29) c.3dup (p.Gln2ThrfsTer?) c.696dup (p.Gln233ThrfsTer?) c.*1726dup (n.*1726dup) n.2334dup n.914dup n.2810dup n.924dup c.*1198dup (n.*1198dup) n.2835dup n.1023dup c.1959dup (p.Gln654ThrfsTer20) c.1593dup (p.Gln532ThrfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132905620_132905621del | CA005636 | TSC1 | c.1955_1956del (p.Ile652ThrfsTer?) c.1958_1959del (p.Ile653ThrfsTer?) c.1571_1572del (p.Ile524ThrfsTer?) c.1595_1596del (p.Ile532ThrfsTer?) c.1802_1803del (p.Ile601ThrfsTer?) c.22_23del c.1955_1956del (p.Ile652ThrfsTer29) c.*1728_*1729del (n.*1728_*1729del) c.1805_1806del (p.Ile602ThrfsTer?) c.476_477del (p.Ile159ThrfsTer?) c.1958_1959del (p.Ile653ThrfsTer29) c.2_3del (p.Ile1ThrfsTer?) c.695_696del (p.Ile232ThrfsTer?) c.*1725_*1726del (n.*1725_*1726del) n.2333_2334del n.913_914del n.2809_2810del n.923_924del c.*1197_*1198del (n.*1197_*1198del) n.2834_2835del n.1022_1023del c.1958_1959del (p.Ile653ThrfsTer20) c.1592_1593del (p.Ile531ThrfsTer?) | ClinVar dbSNP |
| 9 | g.132905620A>C | CA375362413 | TSC1 | c.1955T>G (p.Ile652Arg) c.1958T>G (p.Ile653Arg) c.1571T>G (p.Ile524Arg) c.1595T>G (p.Ile532Arg) c.1802T>G (p.Ile601Arg) c.22T>G c.*1728T>G (n.*1728T>G) c.1805T>G (p.Ile602Arg) c.476T>G (p.Ile159Arg) c.2T>G (p.Ile1Arg) c.695T>G (p.Ile232Arg) c.*1725T>G (n.*1725T>G) n.2333T>G n.913T>G n.2809T>G n.923T>G c.*1197T>G (n.*1197T>G) n.2834T>G n.1022T>G c.1592T>G (p.Ile531Arg) | ClinVar |
| 9 | g.132905620A>G | CA375362417 | TSC1 | c.1955T>C (p.Ile652Thr) c.1958T>C (p.Ile653Thr) c.1571T>C (p.Ile524Thr) c.1595T>C (p.Ile532Thr) c.1802T>C (p.Ile601Thr) c.22T>C c.*1728T>C (n.*1728T>C) c.1805T>C (p.Ile602Thr) c.476T>C (p.Ile159Thr) c.2T>C (p.Ile1Thr) c.695T>C (p.Ile232Thr) c.*1725T>C (n.*1725T>C) n.2333T>C n.913T>C n.2809T>C n.923T>C c.*1197T>C (n.*1197T>C) n.2834T>C n.1022T>C c.1592T>C (p.Ile531Thr) | |
| 9 | g.132905620A>T | CA375362420 | TSC1 | c.1955T>A (p.Ile652Lys) c.1958T>A (p.Ile653Lys) c.1571T>A (p.Ile524Lys) c.1595T>A (p.Ile532Lys) c.1802T>A (p.Ile601Lys) c.22T>A c.*1728T>A (n.*1728T>A) c.1805T>A (p.Ile602Lys) c.476T>A (p.Ile159Lys) c.2T>A (p.Ile1Lys) c.695T>A (p.Ile232Lys) c.*1725T>A (n.*1725T>A) n.2333T>A n.913T>A n.2809T>A n.923T>A c.*1197T>A (n.*1197T>A) n.2834T>A n.1022T>A c.1592T>A (p.Ile531Lys) | dbSNP |
| 9 | g.132905620dup | CA2695203334 | TSC1 | c.1955dup (p.Gln653ThrfsTer?) c.1958dup (p.Gln654ThrfsTer?) c.1571dup (p.Gln525ThrfsTer?) c.1595dup (p.Gln533ThrfsTer?) c.1802dup (p.Gln602ThrfsTer?) c.22dup c.1955dup (p.Gln653ThrfsTer29) c.*1728dup (n.*1728dup) c.1805dup (p.Gln603ThrfsTer?) c.476dup (p.Gln160ThrfsTer?) c.1958dup (p.Gln654ThrfsTer29) c.2dup (p.Gln2ThrfsTer?) c.695dup (p.Gln233ThrfsTer?) c.*1725dup (n.*1725dup) n.2333dup n.913dup n.2809dup n.923dup c.*1197dup (n.*1197dup) n.2834dup n.1022dup c.1958dup (p.Gln654ThrfsTer20) c.1592dup (p.Gln532ThrfsTer?) | |
| 9 | g.132905621T>A | CA375362424 | TSC1 | c.1954A>T (p.Ile652Leu) c.1957A>T (p.Ile653Leu) c.1570A>T (p.Ile524Leu) c.1594A>T (p.Ile532Leu) c.1801A>T (p.Ile601Leu) c.21A>T c.*1727A>T (n.*1727A>T) c.1804A>T (p.Ile602Leu) c.475A>T (p.Ile159Leu) c.1A>T (p.Ile1Leu) c.694A>T (p.Ile232Leu) c.*1724A>T (n.*1724A>T) n.2332A>T n.912A>T n.2808A>T n.922A>T c.*1196A>T (n.*1196A>T) n.2833A>T n.1021A>T c.1591A>T (p.Ile531Leu) | dbSNP |
| 9 | g.132905621T>C | CA375362426 | TSC1 | c.1954A>G (p.Ile652Val) c.1957A>G (p.Ile653Val) c.1570A>G (p.Ile524Val) c.1594A>G (p.Ile532Val) c.1801A>G (p.Ile601Val) c.21A>G c.*1727A>G (n.*1727A>G) c.1804A>G (p.Ile602Val) c.475A>G (p.Ile159Val) c.1A>G (p.Ile1Val) c.694A>G (p.Ile232Val) c.*1724A>G (n.*1724A>G) n.2332A>G n.912A>G n.2808A>G n.922A>G c.*1196A>G (n.*1196A>G) n.2833A>G n.1021A>G c.1591A>G (p.Ile531Val) | |
| 9 | g.132905621T>G | CA375362430 | TSC1 | c.1954A>C (p.Ile652Leu) c.1957A>C (p.Ile653Leu) c.1570A>C (p.Ile524Leu) c.1594A>C (p.Ile532Leu) c.1801A>C (p.Ile601Leu) c.21A>C c.*1727A>C (n.*1727A>C) c.1804A>C (p.Ile602Leu) c.475A>C (p.Ile159Leu) c.1A>C (p.Ile1Leu) c.694A>C (p.Ile232Leu) c.*1724A>C (n.*1724A>C) n.2332A>C n.912A>C n.2808A>C n.922A>C c.*1196A>C (n.*1196A>C) n.2833A>C n.1021A>C c.1591A>C (p.Ile531Leu) | |
| 9 | g.132905621_132905623delinsTCA | CA1882413469 | TSC1 | c.1952_1954delinsTGA (p.Leu651=) c.1955_1957delinsTGA (p.Leu652=) c.1568_1570delinsTGA (p.Leu523=) c.1592_1594delinsTGA (p.Leu531=) c.1799_1801delinsTGA (p.Leu600=) c.19_21delinsTGA c.*1725_*1727delinsTGA (n.*1725_*1727delinsTGA) c.1802_1804delinsTGA (p.Leu601=) c.473_475delinsTGA (p.Leu158=) c.692_694delinsTGA (p.Leu231=) c.*1722_*1724delinsTGA (n.*1722_*1724delinsTGA) n.2330_2332delinsTGA n.910_912delinsTGA n.2806_2808delinsTGA n.920_922delinsTGA c.*1194_*1196delinsTGA (n.*1194_*1196delinsTGA) n.2831_2833delinsTGA n.1019_1021delinsTGA c.1589_1591delinsTGA (p.Leu530=) | |
| 9 | g.132905622C>A | CA467812909 | TSC1 | c.1953G>T (p.Leu651=) c.1956G>T (p.Leu652=) c.1569G>T (p.Leu523=) c.1593G>T (p.Leu531=) c.1800G>T (p.Leu600=) c.20G>T c.*1726G>T (n.*1726G>T) c.1803G>T (p.Leu601=) c.474G>T (p.Leu158=) c.693G>T (p.Leu231=) c.*1723G>T (n.*1723G>T) n.2331G>T n.911G>T n.2807G>T n.921G>T c.*1195G>T (n.*1195G>T) n.2832G>T n.1020G>T c.1590G>T (p.Leu530=) | ClinVar dbSNP |
| 9 | g.132905622C>G | CA467812910 | TSC1 | c.1953G>C (p.Leu651=) c.1956G>C (p.Leu652=) c.1569G>C (p.Leu523=) c.1593G>C (p.Leu531=) c.1800G>C (p.Leu600=) c.20G>C c.*1726G>C (n.*1726G>C) c.1803G>C (p.Leu601=) c.474G>C (p.Leu158=) c.693G>C (p.Leu231=) c.*1723G>C (n.*1723G>C) n.2331G>C n.911G>C n.2807G>C n.921G>C c.*1195G>C (n.*1195G>C) n.2832G>C n.1020G>C c.1590G>C (p.Leu530=) | |
| 9 | g.132905622C>T | CA467812911 | TSC1 | c.1953G>A (p.Leu651=) c.1956G>A (p.Leu652=) c.1569G>A (p.Leu523=) c.1593G>A (p.Leu531=) c.1800G>A (p.Leu600=) c.20G>A c.*1726G>A (n.*1726G>A) c.1803G>A (p.Leu601=) c.474G>A (p.Leu158=) c.693G>A (p.Leu231=) c.*1723G>A (n.*1723G>A) n.2331G>A n.911G>A n.2807G>A n.921G>A c.*1195G>A (n.*1195G>A) n.2832G>A n.1020G>A c.1590G>A (p.Leu530=) | |
| 9 | g.132905622_132905623del | CA005625 | TSC1 | c.1952_1953del (p.Leu651HisfsTer?) c.1955_1956del (p.Leu652HisfsTer?) c.1568_1569del (p.Leu523HisfsTer?) c.1592_1593del (p.Leu531HisfsTer?) c.1799_1800del (p.Leu600HisfsTer?) c.19_20del c.1952_1953del (p.Leu651HisfsTer30) c.*1725_*1726del (n.*1725_*1726del) c.1802_1803del (p.Leu601HisfsTer?) c.473_474del (p.Leu158HisfsTer?) c.1955_1956del (p.Leu652HisfsTer30) c.692_693del (p.Leu231HisfsTer?) c.*1722_*1723del (n.*1722_*1723del) n.2330_2331del n.910_911del n.2806_2807del n.920_921del c.*1194_*1195del (n.*1194_*1195del) n.2831_2832del n.1019_1020del c.1955_1956del (p.Leu652HisfsTer21) c.1589_1590del (p.Leu530HisfsTer?) | ClinVar dbSNP |
| 9 | g.132905623A>C | CA375362434 | TSC1 | c.1952T>G (p.Leu651Arg) c.1955T>G (p.Leu652Arg) c.1568T>G (p.Leu523Arg) c.1592T>G (p.Leu531Arg) c.1799T>G (p.Leu600Arg) c.19T>G c.*1725T>G (n.*1725T>G) c.1802T>G (p.Leu601Arg) c.473T>G (p.Leu158Arg) c.692T>G (p.Leu231Arg) c.*1722T>G (n.*1722T>G) n.2330T>G n.910T>G n.2806T>G n.920T>G c.*1194T>G (n.*1194T>G) n.2831T>G n.1019T>G c.1589T>G (p.Leu530Arg) | ClinVar |
| 9 | g.132905623A>G | CA375362436 | TSC1 | c.1952T>C (p.Leu651Pro) c.1955T>C (p.Leu652Pro) c.1568T>C (p.Leu523Pro) c.1592T>C (p.Leu531Pro) c.1799T>C (p.Leu600Pro) c.19T>C c.*1725T>C (n.*1725T>C) c.1802T>C (p.Leu601Pro) c.473T>C (p.Leu158Pro) c.692T>C (p.Leu231Pro) c.*1722T>C (n.*1722T>C) n.2330T>C n.910T>C n.2806T>C n.920T>C c.*1194T>C (n.*1194T>C) n.2831T>C n.1019T>C c.1589T>C (p.Leu530Pro) | dbSNP |
| 9 | g.132905623A>T | CA375362438 | TSC1 | c.1952T>A (p.Leu651Gln) c.1955T>A (p.Leu652Gln) c.1568T>A (p.Leu523Gln) c.1592T>A (p.Leu531Gln) c.1799T>A (p.Leu600Gln) c.19T>A c.*1725T>A (n.*1725T>A) c.1802T>A (p.Leu601Gln) c.473T>A (p.Leu158Gln) c.692T>A (p.Leu231Gln) c.*1722T>A (n.*1722T>A) n.2330T>A n.910T>A n.2806T>A n.920T>A c.*1194T>A (n.*1194T>A) n.2831T>A n.1019T>A c.1589T>A (p.Leu530Gln) | dbSNP |
| 9 | g.132905624G>A | CA030232 | TSC1 | c.1951C>T (p.Leu651=) c.1954C>T (p.Leu652=) c.1567C>T (p.Leu523=) c.1591C>T (p.Leu531=) c.1798C>T (p.Leu600=) c.18C>T c.*1724C>T (n.*1724C>T) c.1801C>T (p.Leu601=) c.472C>T (p.Leu158=) c.691C>T (p.Leu231=) c.*1721C>T (n.*1721C>T) n.2329C>T n.909C>T n.2805C>T n.919C>T c.*1193C>T (n.*1193C>T) n.2830C>T n.1018C>T c.1588C>T (p.Leu530=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132905624G>C | CA375362444 | TSC1 | c.1951C>G (p.Leu651Val) c.1954C>G (p.Leu652Val) c.1567C>G (p.Leu523Val) c.1591C>G (p.Leu531Val) c.1798C>G (p.Leu600Val) c.18C>G c.*1724C>G (n.*1724C>G) c.1801C>G (p.Leu601Val) c.472C>G (p.Leu158Val) c.691C>G (p.Leu231Val) c.*1721C>G (n.*1721C>G) n.2329C>G n.909C>G n.2805C>G n.919C>G c.*1193C>G (n.*1193C>G) n.2830C>G n.1018C>G c.1588C>G (p.Leu530Val) | dbSNP |
| 9 | g.132905624G= | CA1882413475 | TSC1 | c.1951C= (p.Leu651=) c.1954C= (p.Leu652=) c.1567C= (p.Leu523=) c.1591C= (p.Leu531=) c.1798C= (p.Leu600=) c.18C= c.*1724C= (n.*1724C=) c.1801C= (p.Leu601=) c.472C= (p.Leu158=) c.691C= (p.Leu231=) c.*1721C= (n.*1721C=) n.2329C= n.909C= n.2805C= n.919C= c.*1193C= (n.*1193C=) n.2830C= n.1018C= c.1588C= (p.Leu530=) | |
| 9 | g.132905624G>T | CA375362441 | TSC1 | c.1951C>A (p.Leu651Met) c.1954C>A (p.Leu652Met) c.1567C>A (p.Leu523Met) c.1591C>A (p.Leu531Met) c.1798C>A (p.Leu600Met) c.18C>A c.*1724C>A (n.*1724C>A) c.1801C>A (p.Leu601Met) c.472C>A (p.Leu158Met) c.691C>A (p.Leu231Met) c.*1721C>A (n.*1721C>A) n.2329C>A n.909C>A n.2805C>A n.919C>A c.*1193C>A (n.*1193C>A) n.2830C>A n.1018C>A c.1588C>A (p.Leu530Met) | |
| 9 | g.132905625T>A | CA375362447 | TSC1 | c.1950A>T (p.Arg650Ser) c.1953A>T (p.Arg651Ser) c.1566A>T (p.Arg522Ser) c.1590A>T (p.Arg530Ser) c.1797A>T (p.Arg599Ser) c.17A>T c.*1723A>T (n.*1723A>T) c.1800A>T (p.Arg600Ser) c.471A>T (p.Arg157Ser) c.690A>T (p.Arg230Ser) c.*1720A>T (n.*1720A>T) n.2328A>T n.908A>T n.2804A>T n.918A>T c.*1192A>T (n.*1192A>T) n.2829A>T n.1017A>T c.1587A>T (p.Arg529Ser) | dbSNP gnomAD v4 |
| 9 | g.132905625T>C | CA467812912 | TSC1 | c.1950A>G (p.Arg650=) c.1953A>G (p.Arg651=) c.1566A>G (p.Arg522=) c.1590A>G (p.Arg530=) c.1797A>G (p.Arg599=) c.17A>G c.*1723A>G (n.*1723A>G) c.1800A>G (p.Arg600=) c.471A>G (p.Arg157=) c.690A>G (p.Arg230=) c.*1720A>G (n.*1720A>G) n.2328A>G n.908A>G n.2804A>G n.918A>G c.*1192A>G (n.*1192A>G) n.2829A>G n.1017A>G c.1587A>G (p.Arg529=) | dbSNP |
| 9 | g.132905625T>G | CA375362449 | TSC1 | c.1950A>C (p.Arg650Ser) c.1953A>C (p.Arg651Ser) c.1566A>C (p.Arg522Ser) c.1590A>C (p.Arg530Ser) c.1797A>C (p.Arg599Ser) c.17A>C c.*1723A>C (n.*1723A>C) c.1800A>C (p.Arg600Ser) c.471A>C (p.Arg157Ser) c.690A>C (p.Arg230Ser) c.*1720A>C (n.*1720A>C) n.2328A>C n.908A>C n.2804A>C n.918A>C c.*1192A>C (n.*1192A>C) n.2829A>C n.1017A>C c.1587A>C (p.Arg529Ser) |