| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2071779_2071867delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC | CA2202022764 | TSC2 | c.*494-5_*577delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.1992-5_2075delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.1947-5_2030delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.*1384-5_*1467delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.*1552-5_*1635delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC n.120_208delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.1980-5_2063delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.604-5_687delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.*1449-5_*1532delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.1940-5_2023delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC n.939-5_1022delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC n.229-5_312delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC n.227-5_310delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC n.960-5_1043delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.1800-5_1883delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.*1246-5_*1329delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.1836-5_1919delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC n.454-5_537delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC n.11_99delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.1347-5_1430delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.2109-5_2192delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC c.603-5_686delinsTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCC | |
| 16 | g.2071780_2071867del | CA214885 | TSC2 | c.*494-4_*577del c.1992-4_2075del c.1947-4_2030del c.*1384-4_*1467del c.*1552-4_*1635del n.121_208del c.1980-4_2063del c.604-4_687del c.*1449-4_*1532del c.1940-4_2023del n.939-4_1022del n.229-4_312del n.227-4_310del n.960-4_1043del c.1800-4_1883del c.*1246-4_*1329del c.1836-4_1919del n.454-4_537del n.12_99del c.1347-4_1430del c.2109-4_2192del c.603-4_686del | ClinVar dbSNP |
| 16 | g.2071784_2071867del | CA645594272 | TSC2 | c.*494_*577del (n.*494_*577del) c.1992_2075del (p.Met664_Pro692delinsIle) c.1947_2030del (p.Met649_Pro677delinsIle) c.*1384_*1467del (n.*1384_*1467del) c.*1552_*1635del (n.*1552_*1635del) n.125_208del c.1980_2063del (p.Met660_Pro688delinsIle) c.604_687del c.*1449_*1532del (n.*1449_*1532del) c.1940_2023del n.939_1022del n.229_312del n.227_310del n.960_1043del c.1800_1883del (p.Met600_Pro628delinsIle) c.*1246_*1329del (n.*1246_*1329del) c.1836_1919del (p.Met612_Pro640delinsIle) n.454_537del n.16_99del c.1347_1430del (p.Met449_Pro477delinsIle) c.2109_2192del (p.Met703_Pro731delinsIle) c.603_686del (p.Met201_Pro229delinsIle) | COSMIC |
| 16 | g.2071810_2071812del | CA016366 | TSC2 | c.*520_*522del (n.*520_*522del) c.2018_2020del (p.Lys673del) c.1973_1975del (p.Lys658del) c.*1410_*1412del (n.*1410_*1412del) c.*1578_*1580del (n.*1578_*1580del) n.151_153del c.2006_2008del (p.Lys669del) c.630_632del c.*1475_*1477del (n.*1475_*1477del) c.1966_1968del n.965_967del n.255_257del n.253_255del c.26_28del (p.Lys9del) n.986_988del c.1826_1828del (p.Lys609del) c.*1272_*1274del (n.*1272_*1274del) c.1862_1864del (p.Lys621del) n.480_482del n.42_44del c.1373_1375del (p.Lys458del) c.2135_2137del (p.Lys712del) c.629_631del (p.Lys210del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071808G>A | CA493042549 | TSC2 | c.*518G>A (n.*518G>A) c.2016G>A (p.Lys672=) c.1971G>A (p.Lys657=) c.*1408G>A (n.*1408G>A) c.*1576G>A (n.*1576G>A) n.149G>A c.2004G>A (p.Lys668=) c.628G>A c.*1473G>A (n.*1473G>A) c.1964G>A n.963G>A n.253G>A n.251G>A c.24G>A (p.Lys8=) n.984G>A c.1824G>A (p.Lys608=) c.*1270G>A (n.*1270G>A) c.1860G>A (p.Lys620=) n.478G>A n.40G>A c.1371G>A (p.Lys457=) c.2133G>A (p.Lys711=) c.627G>A (p.Lys209=) | ClinVar dbSNP |
| 16 | g.2071808G>C | CA394274336 | TSC2 | c.*518G>C (n.*518G>C) c.2016G>C (p.Lys672Asn) c.1971G>C (p.Lys657Asn) c.*1408G>C (n.*1408G>C) c.*1576G>C (n.*1576G>C) n.149G>C c.2004G>C (p.Lys668Asn) c.628G>C c.*1473G>C (n.*1473G>C) c.1964G>C n.963G>C n.253G>C n.251G>C c.24G>C (p.Lys8Asn) n.984G>C c.1824G>C (p.Lys608Asn) c.*1270G>C (n.*1270G>C) c.1860G>C (p.Lys620Asn) n.478G>C n.40G>C c.1371G>C (p.Lys457Asn) c.2133G>C (p.Lys711Asn) c.627G>C (p.Lys209Asn) | ClinVar dbSNP |
| 16 | g.2071808G= | CA2202023009 | TSC2 | c.*518G= (n.*518G=) c.2016G= (p.Lys672=) c.1971G= (p.Lys657=) c.*1408G= (n.*1408G=) c.*1576G= (n.*1576G=) n.149G= c.2004G= (p.Lys668=) c.628G= c.*1473G= (n.*1473G=) c.1964G= n.963G= n.253G= n.251G= c.24G= (p.Lys8=) n.984G= c.1824G= (p.Lys608=) c.*1270G= (n.*1270G=) c.1860G= (p.Lys620=) n.478G= n.40G= c.1371G= (p.Lys457=) c.2133G= (p.Lys711=) c.627G= (p.Lys209=) | |
| 16 | g.2071808G>T | CA394274338 | TSC2 | c.*518G>T (n.*518G>T) c.2016G>T (p.Lys672Asn) c.1971G>T (p.Lys657Asn) c.*1408G>T (n.*1408G>T) c.*1576G>T (n.*1576G>T) n.149G>T c.2004G>T (p.Lys668Asn) c.628G>T c.*1473G>T (n.*1473G>T) c.1964G>T n.963G>T n.253G>T n.251G>T c.24G>T (p.Lys8Asn) n.984G>T c.1824G>T (p.Lys608Asn) c.*1270G>T (n.*1270G>T) c.1860G>T (p.Lys620Asn) n.478G>T n.40G>T c.1371G>T (p.Lys457Asn) c.2133G>T (p.Lys711Asn) c.627G>T (p.Lys209Asn) | ClinVar dbSNP |
| 16 | g.2071809A= | CA2202023019 | TSC2 | c.*519A= (n.*519A=) c.2017A= (p.Lys673=) c.1972A= (p.Lys658=) c.*1409A= (n.*1409A=) c.*1577A= (n.*1577A=) n.150A= c.2005A= (p.Lys669=) c.629A= c.*1474A= (n.*1474A=) c.1965A= n.964A= n.254A= n.252A= c.25A= (p.Lys9=) n.985A= c.1825A= (p.Lys609=) c.*1271A= (n.*1271A=) c.1861A= (p.Lys621=) n.479A= n.41A= c.1372A= (p.Lys458=) c.2134A= (p.Lys712=) c.628A= (p.Lys210=) | |
| 16 | g.2071809A>C | CA394274340 | TSC2 | c.*519A>C (n.*519A>C) c.2017A>C (p.Lys673Gln) c.1972A>C (p.Lys658Gln) c.*1409A>C (n.*1409A>C) c.*1577A>C (n.*1577A>C) n.150A>C c.2005A>C (p.Lys669Gln) c.629A>C c.*1474A>C (n.*1474A>C) c.1965A>C n.964A>C n.254A>C n.252A>C c.25A>C (p.Lys9Gln) n.985A>C c.1825A>C (p.Lys609Gln) c.*1271A>C (n.*1271A>C) c.1861A>C (p.Lys621Gln) n.479A>C n.41A>C c.1372A>C (p.Lys458Gln) c.2134A>C (p.Lys712Gln) c.628A>C (p.Lys210Gln) | dbSNP |
| 16 | g.2071809A>G | CA394274341 | TSC2 | c.*519A>G (n.*519A>G) c.2017A>G (p.Lys673Glu) c.1972A>G (p.Lys658Glu) c.*1409A>G (n.*1409A>G) c.*1577A>G (n.*1577A>G) n.150A>G c.2005A>G (p.Lys669Glu) c.629A>G c.*1474A>G (n.*1474A>G) c.1965A>G n.964A>G n.254A>G n.252A>G c.25A>G (p.Lys9Glu) n.985A>G c.1825A>G (p.Lys609Glu) c.*1271A>G (n.*1271A>G) c.1861A>G (p.Lys621Glu) n.479A>G n.41A>G c.1372A>G (p.Lys458Glu) c.2134A>G (p.Lys712Glu) c.628A>G (p.Lys210Glu) | ClinVar dbSNP |
| 16 | g.2071809A>T | CA394274343 | TSC2 | c.*519A>T (n.*519A>T) c.2017A>T (p.Lys673Ter) c.1972A>T (p.Lys658Ter) c.*1409A>T (n.*1409A>T) c.*1577A>T (n.*1577A>T) n.150A>T c.2005A>T (p.Lys669Ter) c.629A>T c.*1474A>T (n.*1474A>T) c.1965A>T n.964A>T n.254A>T n.252A>T c.25A>T (p.Lys9Ter) n.985A>T c.1825A>T (p.Lys609Ter) c.*1271A>T (n.*1271A>T) c.1861A>T (p.Lys621Ter) n.479A>T n.41A>T c.1372A>T (p.Lys458Ter) c.2134A>T (p.Lys712Ter) c.628A>T (p.Lys210Ter) | dbSNP |
| 16 | g.2071810A= | CA2202023028 | TSC2 | c.*520A= (n.*520A=) c.2018A= (p.Lys673=) c.1973A= (p.Lys658=) c.*1410A= (n.*1410A=) c.*1578A= (n.*1578A=) n.151A= c.2006A= (p.Lys669=) c.630A= c.*1475A= (n.*1475A=) c.1966A= n.965A= n.255A= n.253A= c.26A= (p.Lys9=) n.986A= c.1826A= (p.Lys609=) c.*1272A= (n.*1272A=) c.1862A= (p.Lys621=) n.480A= n.42A= c.1373A= (p.Lys458=) c.2135A= (p.Lys712=) c.629A= (p.Lys210=) | |
| 16 | g.2071810A>C | CA016374 | TSC2 | c.*520A>C (n.*520A>C) c.2018A>C (p.Lys673Thr) c.1973A>C (p.Lys658Thr) c.*1410A>C (n.*1410A>C) c.*1578A>C (n.*1578A>C) n.151A>C c.2006A>C (p.Lys669Thr) c.630A>C c.*1475A>C (n.*1475A>C) c.1966A>C n.965A>C n.255A>C n.253A>C c.26A>C (p.Lys9Thr) n.986A>C c.1826A>C (p.Lys609Thr) c.*1272A>C (n.*1272A>C) c.1862A>C (p.Lys621Thr) n.480A>C n.42A>C c.1373A>C (p.Lys458Thr) c.2135A>C (p.Lys712Thr) c.629A>C (p.Lys210Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071810A>G | CA394274346 | TSC2 | c.*520A>G (n.*520A>G) c.2018A>G (p.Lys673Arg) c.1973A>G (p.Lys658Arg) c.*1410A>G (n.*1410A>G) c.*1578A>G (n.*1578A>G) n.151A>G c.2006A>G (p.Lys669Arg) c.630A>G c.*1475A>G (n.*1475A>G) c.1966A>G n.965A>G n.255A>G n.253A>G c.26A>G (p.Lys9Arg) n.986A>G c.1826A>G (p.Lys609Arg) c.*1272A>G (n.*1272A>G) c.1862A>G (p.Lys621Arg) n.480A>G n.42A>G c.1373A>G (p.Lys458Arg) c.2135A>G (p.Lys712Arg) c.629A>G (p.Lys210Arg) | dbSNP |
| 16 | g.2071810A>T | CA394274347 | TSC2 | c.*520A>T (n.*520A>T) c.2018A>T (p.Lys673Met) c.1973A>T (p.Lys658Met) c.*1410A>T (n.*1410A>T) c.*1578A>T (n.*1578A>T) n.151A>T c.2006A>T (p.Lys669Met) c.630A>T c.*1475A>T (n.*1475A>T) c.1966A>T n.965A>T n.255A>T n.253A>T c.26A>T (p.Lys9Met) n.986A>T c.1826A>T (p.Lys609Met) c.*1272A>T (n.*1272A>T) c.1862A>T (p.Lys621Met) n.480A>T n.42A>T c.1373A>T (p.Lys458Met) c.2135A>T (p.Lys712Met) c.629A>T (p.Lys210Met) | dbSNP |
| 16 | g.2071810_2071817delinsAGACCAGC | CA2202023027 | TSC2 | c.*520_*527delinsAGACCAGC (n.*520_*527delinsAGACCAGC) c.2018_2025delinsAGACCAGC (p.Lys673=) c.1973_1980delinsAGACCAGC (p.Lys658=) c.*1410_*1417delinsAGACCAGC (n.*1410_*1417delinsAGACCAGC) c.*1578_*1585delinsAGACCAGC (n.*1578_*1585delinsAGACCAGC) n.151_158delinsAGACCAGC c.2006_2013delinsAGACCAGC (p.Lys669=) c.630_637delinsAGACCAGC c.*1475_*1482delinsAGACCAGC (n.*1475_*1482delinsAGACCAGC) c.1966_1973delinsAGACCAGC n.965_972delinsAGACCAGC n.255_262delinsAGACCAGC n.253_260delinsAGACCAGC c.26_33delinsAGACCAGC (p.Lys9=) n.986_993delinsAGACCAGC c.1826_1833delinsAGACCAGC (p.Lys609=) c.*1272_*1279delinsAGACCAGC (n.*1272_*1279delinsAGACCAGC) c.1862_1869delinsAGACCAGC (p.Lys621=) n.480_487delinsAGACCAGC n.42_49delinsAGACCAGC c.1373_1380delinsAGACCAGC (p.Lys458=) c.2135_2142delinsAGACCAGC (p.Lys712=) c.629_636delinsAGACCAGC (p.Lys210=) | |
| 16 | g.2071811G>A | CA493042550 | TSC2 | c.*521G>A (n.*521G>A) c.2019G>A (p.Lys673=) c.1974G>A (p.Lys658=) c.*1411G>A (n.*1411G>A) c.*1579G>A (n.*1579G>A) n.152G>A c.2007G>A (p.Lys669=) c.631G>A c.*1476G>A (n.*1476G>A) c.1967G>A n.966G>A n.256G>A n.254G>A c.27G>A (p.Lys9=) n.987G>A c.1827G>A (p.Lys609=) c.*1273G>A (n.*1273G>A) c.1863G>A (p.Lys621=) n.481G>A n.43G>A c.1374G>A (p.Lys458=) c.2136G>A (p.Lys712=) c.630G>A (p.Lys210=) | ClinVar dbSNP gnomAD v2 |
| 16 | g.2071811G>C | CA394274349 | TSC2 | c.*521G>C (n.*521G>C) c.2019G>C (p.Lys673Asn) c.1974G>C (p.Lys658Asn) c.*1411G>C (n.*1411G>C) c.*1579G>C (n.*1579G>C) n.152G>C c.2007G>C (p.Lys669Asn) c.631G>C c.*1476G>C (n.*1476G>C) c.1967G>C n.966G>C n.256G>C n.254G>C c.27G>C (p.Lys9Asn) n.987G>C c.1827G>C (p.Lys609Asn) c.*1273G>C (n.*1273G>C) c.1863G>C (p.Lys621Asn) n.481G>C n.43G>C c.1374G>C (p.Lys458Asn) c.2136G>C (p.Lys712Asn) c.630G>C (p.Lys210Asn) | dbSNP gnomAD v4 |
| 16 | g.2071811G= | CA2202023029 | TSC2 | c.*521G= (n.*521G=) c.2019G= (p.Lys673=) c.1974G= (p.Lys658=) c.*1411G= (n.*1411G=) c.*1579G= (n.*1579G=) n.152G= c.2007G= (p.Lys669=) c.631G= c.*1476G= (n.*1476G=) c.1967G= n.966G= n.256G= n.254G= c.27G= (p.Lys9=) n.987G= c.1827G= (p.Lys609=) c.*1273G= (n.*1273G=) c.1863G= (p.Lys621=) n.481G= n.43G= c.1374G= (p.Lys458=) c.2136G= (p.Lys712=) c.630G= (p.Lys210=) | |
| 16 | g.2071811G>T | CA394274351 | TSC2 | c.*521G>T (n.*521G>T) c.2019G>T (p.Lys673Asn) c.1974G>T (p.Lys658Asn) c.*1411G>T (n.*1411G>T) c.*1579G>T (n.*1579G>T) n.152G>T c.2007G>T (p.Lys669Asn) c.631G>T c.*1476G>T (n.*1476G>T) c.1967G>T n.966G>T n.256G>T n.254G>T c.27G>T (p.Lys9Asn) n.987G>T c.1827G>T (p.Lys609Asn) c.*1273G>T (n.*1273G>T) c.1863G>T (p.Lys621Asn) n.481G>T n.43G>T c.1374G>T (p.Lys458Asn) c.2136G>T (p.Lys712Asn) c.630G>T (p.Lys210Asn) | gnomAD v4 |
| 16 | g.2071812_2071818del | CA016377 | TSC2 | c.*522_*528del (n.*522_*528del) c.2020_2026del (p.Thr674AlafsTer?) c.1975_1981del (p.Thr659AlafsTer?) c.*1412_*1418del (n.*1412_*1418del) c.*1580_*1586del (n.*1580_*1586del) n.153_159del c.2008_2014del (p.Thr670AlafsTer?) c.632_638del c.*1477_*1483del (n.*1477_*1483del) c.1968_1974del n.967_973del n.257_263del n.255_261del c.28_34del (p.Thr10AlafsTer?) n.988_994del c.1828_1834del (p.Thr610AlafsTer?) c.*1274_*1280del (n.*1274_*1280del) c.1864_1870del (p.Thr622AlafsTer?) n.482_488del n.44_50del c.1375_1381del (p.Thr459AlafsTer?) c.2137_2143del (p.Thr713AlafsTer?) c.631_637del (p.Thr211AlafsTer?) | ClinVar dbSNP |
| 16 | g.2071812A= | CA2202023030 | TSC2 | c.*522A= (n.*522A=) c.2020A= (p.Thr674=) c.1975A= (p.Thr659=) c.*1412A= (n.*1412A=) c.*1580A= (n.*1580A=) n.153A= c.2008A= (p.Thr670=) c.632A= c.*1477A= (n.*1477A=) c.1968A= n.967A= n.257A= n.255A= c.28A= (p.Thr10=) n.988A= c.1828A= (p.Thr610=) c.*1274A= (n.*1274A=) c.1864A= (p.Thr622=) n.482A= n.44A= c.1375A= (p.Thr459=) c.2137A= (p.Thr713=) c.631A= (p.Thr211=) | |
| 16 | g.2071812A>C | CA394274354 | TSC2 | c.*522A>C (n.*522A>C) c.2020A>C (p.Thr674Pro) c.1975A>C (p.Thr659Pro) c.*1412A>C (n.*1412A>C) c.*1580A>C (n.*1580A>C) n.153A>C c.2008A>C (p.Thr670Pro) c.632A>C c.*1477A>C (n.*1477A>C) c.1968A>C n.967A>C n.257A>C n.255A>C c.28A>C (p.Thr10Pro) n.988A>C c.1828A>C (p.Thr610Pro) c.*1274A>C (n.*1274A>C) c.1864A>C (p.Thr622Pro) n.482A>C n.44A>C c.1375A>C (p.Thr459Pro) c.2137A>C (p.Thr713Pro) c.631A>C (p.Thr211Pro) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2071812A>G | CA394274355 | TSC2 | c.*522A>G (n.*522A>G) c.2020A>G (p.Thr674Ala) c.1975A>G (p.Thr659Ala) c.*1412A>G (n.*1412A>G) c.*1580A>G (n.*1580A>G) n.153A>G c.2008A>G (p.Thr670Ala) c.632A>G c.*1477A>G (n.*1477A>G) c.1968A>G n.967A>G n.257A>G n.255A>G c.28A>G (p.Thr10Ala) n.988A>G c.1828A>G (p.Thr610Ala) c.*1274A>G (n.*1274A>G) c.1864A>G (p.Thr622Ala) n.482A>G n.44A>G c.1375A>G (p.Thr459Ala) c.2137A>G (p.Thr713Ala) c.631A>G (p.Thr211Ala) | ClinVar dbSNP |
| 16 | g.2071812A>T | CA394274357 | TSC2 | c.*522A>T (n.*522A>T) c.2020A>T (p.Thr674Ser) c.1975A>T (p.Thr659Ser) c.*1412A>T (n.*1412A>T) c.*1580A>T (n.*1580A>T) n.153A>T c.2008A>T (p.Thr670Ser) c.632A>T c.*1477A>T (n.*1477A>T) c.1968A>T n.967A>T n.257A>T n.255A>T c.28A>T (p.Thr10Ser) n.988A>T c.1828A>T (p.Thr610Ser) c.*1274A>T (n.*1274A>T) c.1864A>T (p.Thr622Ser) n.482A>T n.44A>T c.1375A>T (p.Thr459Ser) c.2137A>T (p.Thr713Ser) c.631A>T (p.Thr211Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071813C>A | CA276737622 | TSC2 | c.*523C>A (n.*523C>A) c.2021C>A (p.Thr674Asn) c.1976C>A (p.Thr659Asn) c.*1413C>A (n.*1413C>A) c.*1581C>A (n.*1581C>A) n.154C>A c.2009C>A (p.Thr670Asn) c.633C>A c.*1478C>A (n.*1478C>A) c.1969C>A n.968C>A n.258C>A n.256C>A c.29C>A (p.Thr10Asn) n.989C>A c.1829C>A (p.Thr610Asn) c.*1275C>A (n.*1275C>A) c.1865C>A (p.Thr622Asn) n.483C>A n.45C>A c.1376C>A (p.Thr459Asn) c.2138C>A (p.Thr713Asn) c.632C>A (p.Thr211Asn) | ClinVar dbSNP |
| 16 | g.2071813C= | CA2202023039 | TSC2 | c.*523C= (n.*523C=) c.2021C= (p.Thr674=) c.1976C= (p.Thr659=) c.*1413C= (n.*1413C=) c.*1581C= (n.*1581C=) n.154C= c.2009C= (p.Thr670=) c.633C= c.*1478C= (n.*1478C=) c.1969C= n.968C= n.258C= n.256C= c.29C= (p.Thr10=) n.989C= c.1829C= (p.Thr610=) c.*1275C= (n.*1275C=) c.1865C= (p.Thr622=) n.483C= n.45C= c.1376C= (p.Thr459=) c.2138C= (p.Thr713=) c.632C= (p.Thr211=) | |
| 16 | g.2071813C>G | CA035359 | TSC2 | c.*523C>G (n.*523C>G) c.2021C>G (p.Thr674Ser) c.1976C>G (p.Thr659Ser) c.*1413C>G (n.*1413C>G) c.*1581C>G (n.*1581C>G) n.154C>G c.2009C>G (p.Thr670Ser) c.633C>G c.*1478C>G (n.*1478C>G) c.1969C>G n.968C>G n.258C>G n.256C>G c.29C>G (p.Thr10Ser) n.989C>G c.1829C>G (p.Thr610Ser) c.*1275C>G (n.*1275C>G) c.1865C>G (p.Thr622Ser) n.483C>G n.45C>G c.1376C>G (p.Thr459Ser) c.2138C>G (p.Thr713Ser) c.632C>G (p.Thr211Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071813C>T | CA394274359 | TSC2 | c.*523C>T (n.*523C>T) c.2021C>T (p.Thr674Ile) c.1976C>T (p.Thr659Ile) c.*1413C>T (n.*1413C>T) c.*1581C>T (n.*1581C>T) n.154C>T c.2009C>T (p.Thr670Ile) c.633C>T c.*1478C>T (n.*1478C>T) c.1969C>T n.968C>T n.258C>T n.256C>T c.29C>T (p.Thr10Ile) n.989C>T c.1829C>T (p.Thr610Ile) c.*1275C>T (n.*1275C>T) c.1865C>T (p.Thr622Ile) n.483C>T n.45C>T c.1376C>T (p.Thr459Ile) c.2138C>T (p.Thr713Ile) c.632C>T (p.Thr211Ile) | dbSNP |
| 16 | g.2071813_2071814insA | CA2695221353 | TSC2 | c.*523_*524insA (n.*523_*524insA) c.2021_2022insA (p.Ser675GlnfsTer?) c.1976_1977insA (p.Ser660GlnfsTer?) c.*1413_*1414insA (n.*1413_*1414insA) c.*1581_*1582insA (n.*1581_*1582insA) n.154_155insA c.2009_2010insA (p.Ser671GlnfsTer?) c.633_634insA c.*1478_*1479insA (n.*1478_*1479insA) c.1969_1970insA n.968_969insA n.258_259insA n.256_257insA c.29_30insA (p.Ser11GlnfsTer?) n.989_990insA c.1829_1830insA (p.Ser611GlnfsTer?) c.*1275_*1276insA (n.*1275_*1276insA) c.1865_1866insA (p.Ser623GlnfsTer?) n.483_484insA n.45_46insA c.1376_1377insA (p.Ser460GlnfsTer?) c.2138_2139insA (p.Ser714GlnfsTer?) c.632_633insA (p.Ser212GlnfsTer?) | |
| 16 | g.2071814C>A | CA493042551 | TSC2 | c.*524C>A (n.*524C>A) c.2022C>A (p.Thr674=) c.1977C>A (p.Thr659=) c.*1414C>A (n.*1414C>A) c.*1582C>A (n.*1582C>A) n.155C>A c.2010C>A (p.Thr670=) c.634C>A c.*1479C>A (n.*1479C>A) c.1970C>A n.969C>A n.259C>A n.257C>A c.30C>A (p.Thr10=) n.990C>A c.1830C>A (p.Thr610=) c.*1276C>A (n.*1276C>A) c.1866C>A (p.Thr622=) n.484C>A n.46C>A c.1377C>A (p.Thr459=) c.2139C>A (p.Thr713=) c.633C>A (p.Thr211=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2071814C= | CA2202023050 | TSC2 | c.*524C= (n.*524C=) c.2022C= (p.Thr674=) c.1977C= (p.Thr659=) c.*1414C= (n.*1414C=) c.*1582C= (n.*1582C=) n.155C= c.2010C= (p.Thr670=) c.634C= c.*1479C= (n.*1479C=) c.1970C= n.969C= n.259C= n.257C= c.30C= (p.Thr10=) n.990C= c.1830C= (p.Thr610=) c.*1276C= (n.*1276C=) c.1866C= (p.Thr622=) n.484C= n.46C= c.1377C= (p.Thr459=) c.2139C= (p.Thr713=) c.633C= (p.Thr211=) | |
| 16 | g.2071814C>G | CA493042552 | TSC2 | c.*524C>G (n.*524C>G) c.2022C>G (p.Thr674=) c.1977C>G (p.Thr659=) c.*1414C>G (n.*1414C>G) c.*1582C>G (n.*1582C>G) n.155C>G c.2010C>G (p.Thr670=) c.634C>G c.*1479C>G (n.*1479C>G) c.1970C>G n.969C>G n.259C>G n.257C>G c.30C>G (p.Thr10=) n.990C>G c.1830C>G (p.Thr610=) c.*1276C>G (n.*1276C>G) c.1866C>G (p.Thr622=) n.484C>G n.46C>G c.1377C>G (p.Thr459=) c.2139C>G (p.Thr713=) c.633C>G (p.Thr211=) | dbSNP |
| 16 | g.2071814C>T | CA035371 | TSC2 | c.*524C>T (n.*524C>T) c.2022C>T (p.Thr674=) c.1977C>T (p.Thr659=) c.*1414C>T (n.*1414C>T) c.*1582C>T (n.*1582C>T) n.155C>T c.2010C>T (p.Thr670=) c.634C>T c.*1479C>T (n.*1479C>T) c.1970C>T n.969C>T n.259C>T n.257C>T c.30C>T (p.Thr10=) n.990C>T c.1830C>T (p.Thr610=) c.*1276C>T (n.*1276C>T) c.1866C>T (p.Thr622=) n.484C>T n.46C>T c.1377C>T (p.Thr459=) c.2139C>T (p.Thr713=) c.633C>T (p.Thr211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071815A= | CA2202023061 | TSC2 | c.*525A= (n.*525A=) c.2023A= (p.Ser675=) c.1978A= (p.Ser660=) c.*1415A= (n.*1415A=) c.*1583A= (n.*1583A=) n.156A= c.2011A= (p.Ser671=) c.635A= c.*1480A= (n.*1480A=) c.1971A= n.970A= n.260A= n.258A= c.31A= (p.Ser11=) n.991A= c.1831A= (p.Ser611=) c.*1277A= (n.*1277A=) c.1867A= (p.Ser623=) n.485A= n.47A= c.1378A= (p.Ser460=) c.2140A= (p.Ser714=) c.634A= (p.Ser212=) | |
| 16 | g.2071815A>C | CA394274362 | TSC2 | c.*525A>C (n.*525A>C) c.2023A>C (p.Ser675Arg) c.1978A>C (p.Ser660Arg) c.*1415A>C (n.*1415A>C) c.*1583A>C (n.*1583A>C) n.156A>C c.2011A>C (p.Ser671Arg) c.635A>C c.*1480A>C (n.*1480A>C) c.1971A>C n.970A>C n.260A>C n.258A>C c.31A>C (p.Ser11Arg) n.991A>C c.1831A>C (p.Ser611Arg) c.*1277A>C (n.*1277A>C) c.1867A>C (p.Ser623Arg) n.485A>C n.47A>C c.1378A>C (p.Ser460Arg) c.2140A>C (p.Ser714Arg) c.634A>C (p.Ser212Arg) | dbSNP |
| 16 | g.2071815A>G | CA035386 | TSC2 | c.*525A>G (n.*525A>G) c.2023A>G (p.Ser675Gly) c.1978A>G (p.Ser660Gly) c.*1415A>G (n.*1415A>G) c.*1583A>G (n.*1583A>G) n.156A>G c.2011A>G (p.Ser671Gly) c.635A>G c.*1480A>G (n.*1480A>G) c.1971A>G n.970A>G n.260A>G n.258A>G c.31A>G (p.Ser11Gly) n.991A>G c.1831A>G (p.Ser611Gly) c.*1277A>G (n.*1277A>G) c.1867A>G (p.Ser623Gly) n.485A>G n.47A>G c.1378A>G (p.Ser460Gly) c.2140A>G (p.Ser714Gly) c.634A>G (p.Ser212Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071815A>T | CA394274364 | TSC2 | c.*525A>T (n.*525A>T) c.2023A>T (p.Ser675Cys) c.1978A>T (p.Ser660Cys) c.*1415A>T (n.*1415A>T) c.*1583A>T (n.*1583A>T) n.156A>T c.2011A>T (p.Ser671Cys) c.635A>T c.*1480A>T (n.*1480A>T) c.1971A>T n.970A>T n.260A>T n.258A>T c.31A>T (p.Ser11Cys) n.991A>T c.1831A>T (p.Ser611Cys) c.*1277A>T (n.*1277A>T) c.1867A>T (p.Ser623Cys) n.485A>T n.47A>T c.1378A>T (p.Ser460Cys) c.2140A>T (p.Ser714Cys) c.634A>T (p.Ser212Cys) | dbSNP |
| 16 | g.2071815_2071855delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC | CA2202023060 | TSC2 | c.*525_*565delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (n.*525_*565delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC) c.2023_2063delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (p.Ser675=) c.1978_2018delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (p.Ser660=) c.*1415_*1455delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (n.*1415_*1455delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC) c.*1583_*1623delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (n.*1583_*1623delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC) n.156_196delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC c.2011_2051delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (p.Ser671=) c.635_675delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC c.*1480_*1520delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (n.*1480_*1520delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC) c.1971_2011delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC n.970_1010delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC n.260_300delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC n.258_298delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC c.31_71delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (p.Ser11=) n.991_1031delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC c.1831_1871delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (p.Ser611=) c.*1277_*1317delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (n.*1277_*1317delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC) c.1867_1907delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (p.Ser623=) n.485_525delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC n.47_87delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC c.1378_1418delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (p.Ser460=) c.2140_2180delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (p.Ser714=) c.634_674delinsAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC (p.Ser212=) | |
| 16 | g.2071816G>A | CA035397 | TSC2 | c.*526G>A (n.*526G>A) c.2024G>A (p.Ser675Asn) c.1979G>A (p.Ser660Asn) c.*1416G>A (n.*1416G>A) c.*1584G>A (n.*1584G>A) n.157G>A c.2012G>A (p.Ser671Asn) c.636G>A c.*1481G>A (n.*1481G>A) c.1972G>A n.971G>A n.261G>A n.259G>A c.32G>A (p.Ser11Asn) n.992G>A c.1832G>A (p.Ser611Asn) c.*1278G>A (n.*1278G>A) c.1868G>A (p.Ser623Asn) n.486G>A n.48G>A c.1379G>A (p.Ser460Asn) c.2141G>A (p.Ser714Asn) c.635G>A (p.Ser212Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2071816G>C | CA394274366 | TSC2 | c.*526G>C (n.*526G>C) c.2024G>C (p.Ser675Thr) c.1979G>C (p.Ser660Thr) c.*1416G>C (n.*1416G>C) c.*1584G>C (n.*1584G>C) n.157G>C c.2012G>C (p.Ser671Thr) c.636G>C c.*1481G>C (n.*1481G>C) c.1972G>C n.971G>C n.261G>C n.259G>C c.32G>C (p.Ser11Thr) n.992G>C c.1832G>C (p.Ser611Thr) c.*1278G>C (n.*1278G>C) c.1868G>C (p.Ser623Thr) n.486G>C n.48G>C c.1379G>C (p.Ser460Thr) c.2141G>C (p.Ser714Thr) c.635G>C (p.Ser212Thr) | ClinVar dbSNP |
| 16 | g.2071816G= | CA2202023074 | TSC2 | c.*526G= (n.*526G=) c.2024G= (p.Ser675=) c.1979G= (p.Ser660=) c.*1416G= (n.*1416G=) c.*1584G= (n.*1584G=) n.157G= c.2012G= (p.Ser671=) c.636G= c.*1481G= (n.*1481G=) c.1972G= n.971G= n.261G= n.259G= c.32G= (p.Ser11=) n.992G= c.1832G= (p.Ser611=) c.*1278G= (n.*1278G=) c.1868G= (p.Ser623=) n.486G= n.48G= c.1379G= (p.Ser460=) c.2141G= (p.Ser714=) c.635G= (p.Ser212=) | |
| 16 | g.2071816G>T | CA394274369 | TSC2 | c.*526G>T (n.*526G>T) c.2024G>T (p.Ser675Ile) c.1979G>T (p.Ser660Ile) c.*1416G>T (n.*1416G>T) c.*1584G>T (n.*1584G>T) n.157G>T c.2012G>T (p.Ser671Ile) c.636G>T c.*1481G>T (n.*1481G>T) c.1972G>T n.971G>T n.261G>T n.259G>T c.32G>T (p.Ser11Ile) n.992G>T c.1832G>T (p.Ser611Ile) c.*1278G>T (n.*1278G>T) c.1868G>T (p.Ser623Ile) n.486G>T n.48G>T c.1379G>T (p.Ser460Ile) c.2141G>T (p.Ser714Ile) c.635G>T (p.Ser212Ile) | ClinVar dbSNP |
| 16 | g.2071818_2071857del | CA1139664307 | TSC2 | c.*528_*567del (n.*528_*567del) c.2026_2065del (p.Gly676LeufsTer24) c.1981_2020del (p.Gly661LeufsTer24) c.*1418_*1457del (n.*1418_*1457del) c.*1586_*1625del (n.*1586_*1625del) n.159_198del c.2014_2053del (p.Gly672LeufsTer24) c.638_677del c.*1483_*1522del (n.*1483_*1522del) c.1974_2013del n.973_1012del n.263_302del n.261_300del c.34_73del (p.Gly12LeufsTer24) n.994_1033del c.1834_1873del (p.Gly612LeufsTer24) c.*1280_*1319del (n.*1280_*1319del) c.1870_1909del (p.Gly624LeufsTer24) n.488_527del n.50_89del c.1381_1420del (p.Gly461LeufsTer24) c.2143_2182del (p.Gly715LeufsTer24) c.637_676del (p.Gly213LeufsTer24) | ClinVar dbSNP |
| 16 | g.2071817C>A | CA394274370 | TSC2 | c.*527C>A (n.*527C>A) c.2025C>A (p.Ser675Arg) c.1980C>A (p.Ser660Arg) c.*1417C>A (n.*1417C>A) c.*1585C>A (n.*1585C>A) n.158C>A c.2013C>A (p.Ser671Arg) c.637C>A c.*1482C>A (n.*1482C>A) c.1973C>A n.972C>A n.262C>A n.260C>A c.33C>A (p.Ser11Arg) n.993C>A c.1833C>A (p.Ser611Arg) c.*1279C>A (n.*1279C>A) c.1869C>A (p.Ser623Arg) n.487C>A n.49C>A c.1380C>A (p.Ser460Arg) c.2142C>A (p.Ser714Arg) c.636C>A (p.Ser212Arg) | ClinVar dbSNP |
| 16 | g.2071817C= | CA2202023086 | TSC2 | c.*527C= (n.*527C=) c.2025C= (p.Ser675=) c.1980C= (p.Ser660=) c.*1417C= (n.*1417C=) c.*1585C= (n.*1585C=) n.158C= c.2013C= (p.Ser671=) c.637C= c.*1482C= (n.*1482C=) c.1973C= n.972C= n.262C= n.260C= c.33C= (p.Ser11=) n.993C= c.1833C= (p.Ser611=) c.*1279C= (n.*1279C=) c.1869C= (p.Ser623=) n.487C= n.49C= c.1380C= (p.Ser460=) c.2142C= (p.Ser714=) c.636C= (p.Ser212=) | |
| 16 | g.2071817C>G | CA394274372 | TSC2 | c.*527C>G (n.*527C>G) c.2025C>G (p.Ser675Arg) c.1980C>G (p.Ser660Arg) c.*1417C>G (n.*1417C>G) c.*1585C>G (n.*1585C>G) n.158C>G c.2013C>G (p.Ser671Arg) c.637C>G c.*1482C>G (n.*1482C>G) c.1973C>G n.972C>G n.262C>G n.260C>G c.33C>G (p.Ser11Arg) n.993C>G c.1833C>G (p.Ser611Arg) c.*1279C>G (n.*1279C>G) c.1869C>G (p.Ser623Arg) n.487C>G n.49C>G c.1380C>G (p.Ser460Arg) c.2142C>G (p.Ser714Arg) c.636C>G (p.Ser212Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2071817C>T | CA276737632 | TSC2 | c.*527C>T (n.*527C>T) c.2025C>T (p.Ser675=) c.1980C>T (p.Ser660=) c.*1417C>T (n.*1417C>T) c.*1585C>T (n.*1585C>T) n.158C>T c.2013C>T (p.Ser671=) c.637C>T c.*1482C>T (n.*1482C>T) c.1973C>T n.972C>T n.262C>T n.260C>T c.33C>T (p.Ser11=) n.993C>T c.1833C>T (p.Ser611=) c.*1279C>T (n.*1279C>T) c.1869C>T (p.Ser623=) n.487C>T n.49C>T c.1380C>T (p.Ser460=) c.2142C>T (p.Ser714=) c.636C>T (p.Ser212=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071818_2071822del | CA2695221354 | TSC2 | c.*528_*532del (n.*528_*532del) c.2026_2030del (p.Gly676ProfsTer?) c.1981_1985del (p.Gly661ProfsTer?) c.*1418_*1422del (n.*1418_*1422del) c.*1586_*1590del (n.*1586_*1590del) n.159_163del c.2014_2018del (p.Gly672ProfsTer?) c.638_642del c.*1483_*1487del (n.*1483_*1487del) c.1974_1978del n.973_977del n.263_267del n.261_265del c.34_38del (p.Gly12ProfsTer?) n.994_998del c.1834_1838del (p.Gly612ProfsTer?) c.*1280_*1284del (n.*1280_*1284del) c.1870_1874del (p.Gly624ProfsTer?) n.488_492del n.50_54del c.1381_1385del (p.Gly461ProfsTer?) c.2143_2147del (p.Gly715ProfsTer?) c.637_641del (p.Gly213ProfsTer?) |