UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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_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.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.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.2071816_2071819del | CA2805579039 | TSC2 | c.*526_*529del (n.*526_*529del) c.2024_2027del (p.Ser675ThrfsTer?) c.1979_1982del (p.Ser660ThrfsTer?) c.*1416_*1419del (n.*1416_*1419del) c.*1584_*1587del (n.*1584_*1587del) n.157_160del c.2012_2015del (p.Ser671ThrfsTer?) c.636_639del c.*1481_*1484del (n.*1481_*1484del) c.1972_1975del n.971_974del n.261_264del n.259_262del c.32_35del (p.Ser11ThrfsTer?) n.992_995del c.1832_1835del (p.Ser611ThrfsTer?) c.*1278_*1281del (n.*1278_*1281del) c.1868_1871del (p.Ser623ThrfsTer?) n.486_489del n.48_51del c.1379_1382del (p.Ser460ThrfsTer?) c.2141_2144del (p.Ser714ThrfsTer?) c.635_638del (p.Ser212ThrfsTer?) | |
| 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) | ClinVar 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?) | |
| 16 | g.2071817_2071835del | CA2731835394 | TSC2 | c.*527_*545del (n.*527_*545del) c.2025_2043del (p.Ser675ArgfsTer?) c.1980_1998del (p.Ser660ArgfsTer?) c.*1417_*1435del (n.*1417_*1435del) c.*1585_*1603del (n.*1585_*1603del) n.158_176del c.2013_2031del (p.Ser671ArgfsTer?) c.637_655del c.*1482_*1500del (n.*1482_*1500del) c.1973_1991del n.972_990del n.262_280del n.260_278del c.33_51del (p.Ser11ArgfsTer?) n.993_1011del c.1833_1851del (p.Ser611ArgfsTer?) c.*1279_*1297del (n.*1279_*1297del) c.1869_1887del (p.Ser623ArgfsTer?) n.487_505del n.49_67del c.1380_1398del (p.Ser460ArgfsTer?) c.2142_2160del (p.Ser714ArgfsTer?) c.636_654del (p.Ser212ArgfsTer?) | dbSNP |
| 16 | g.2071818G>A | CA035412 | TSC2 | c.*528G>A (n.*528G>A) c.2026G>A (p.Gly676Ser) c.1981G>A (p.Gly661Ser) c.*1418G>A (n.*1418G>A) c.*1586G>A (n.*1586G>A) n.159G>A c.2014G>A (p.Gly672Ser) c.638G>A c.*1483G>A (n.*1483G>A) c.1974G>A n.973G>A n.263G>A n.261G>A c.34G>A (p.Gly12Ser) n.994G>A c.1834G>A (p.Gly612Ser) c.*1280G>A (n.*1280G>A) c.1870G>A (p.Gly624Ser) n.488G>A n.50G>A c.1381G>A (p.Gly461Ser) c.2143G>A (p.Gly715Ser) c.637G>A (p.Gly213Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071818G>C | CA016388 | TSC2 | c.*528G>C (n.*528G>C) c.2026G>C (p.Gly676Arg) c.1981G>C (p.Gly661Arg) c.*1418G>C (n.*1418G>C) c.*1586G>C (n.*1586G>C) n.159G>C c.2014G>C (p.Gly672Arg) c.638G>C c.*1483G>C (n.*1483G>C) c.1974G>C n.973G>C n.263G>C n.261G>C c.34G>C (p.Gly12Arg) n.994G>C c.1834G>C (p.Gly612Arg) c.*1280G>C (n.*1280G>C) c.1870G>C (p.Gly624Arg) n.488G>C n.50G>C c.1381G>C (p.Gly461Arg) c.2143G>C (p.Gly715Arg) c.637G>C (p.Gly213Arg) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2071818G= | CA2202023106 | TSC2 | c.*528G= (n.*528G=) c.2026G= (p.Gly676=) c.1981G= (p.Gly661=) c.*1418G= (n.*1418G=) c.*1586G= (n.*1586G=) n.159G= c.2014G= (p.Gly672=) c.638G= c.*1483G= (n.*1483G=) c.1974G= n.973G= n.263G= n.261G= c.34G= (p.Gly12=) n.994G= c.1834G= (p.Gly612=) c.*1280G= (n.*1280G=) c.1870G= (p.Gly624=) n.488G= n.50G= c.1381G= (p.Gly461=) c.2143G= (p.Gly715=) c.637G= (p.Gly213=) | |
| 16 | g.2071818G>T | CA394274375 | TSC2 | c.*528G>T (n.*528G>T) c.2026G>T (p.Gly676Cys) c.1981G>T (p.Gly661Cys) c.*1418G>T (n.*1418G>T) c.*1586G>T (n.*1586G>T) n.159G>T c.2014G>T (p.Gly672Cys) c.638G>T c.*1483G>T (n.*1483G>T) c.1974G>T n.973G>T n.263G>T n.261G>T c.34G>T (p.Gly12Cys) n.994G>T c.1834G>T (p.Gly612Cys) c.*1280G>T (n.*1280G>T) c.1870G>T (p.Gly624Cys) n.488G>T n.50G>T c.1381G>T (p.Gly461Cys) c.2143G>T (p.Gly715Cys) c.637G>T (p.Gly213Cys) | ClinVar gnomAD v4 |
| 16 | g.2071819G>A | CA394274381 | TSC2 | c.*529G>A (n.*529G>A) c.2027G>A (p.Gly676Asp) c.1982G>A (p.Gly661Asp) c.*1419G>A (n.*1419G>A) c.*1587G>A (n.*1587G>A) n.160G>A c.2015G>A (p.Gly672Asp) c.639G>A c.*1484G>A (n.*1484G>A) c.1975G>A n.974G>A n.264G>A n.262G>A c.35G>A (p.Gly12Asp) n.995G>A c.1835G>A (p.Gly612Asp) c.*1281G>A (n.*1281G>A) c.1871G>A (p.Gly624Asp) n.489G>A n.51G>A c.1382G>A (p.Gly461Asp) c.2144G>A (p.Gly715Asp) c.638G>A (p.Gly213Asp) | ClinVar dbSNP |
| 16 | g.2071819G>C | CA394274380 | TSC2 | c.*529G>C (n.*529G>C) c.2027G>C (p.Gly676Ala) c.1982G>C (p.Gly661Ala) c.*1419G>C (n.*1419G>C) c.*1587G>C (n.*1587G>C) n.160G>C c.2015G>C (p.Gly672Ala) c.639G>C c.*1484G>C (n.*1484G>C) c.1975G>C n.974G>C n.264G>C n.262G>C c.35G>C (p.Gly12Ala) n.995G>C c.1835G>C (p.Gly612Ala) c.*1281G>C (n.*1281G>C) c.1871G>C (p.Gly624Ala) n.489G>C n.51G>C c.1382G>C (p.Gly461Ala) c.2144G>C (p.Gly715Ala) c.638G>C (p.Gly213Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071819G= | CA2202023122 | TSC2 | c.*529G= (n.*529G=) c.2027G= (p.Gly676=) c.1982G= (p.Gly661=) c.*1419G= (n.*1419G=) c.*1587G= (n.*1587G=) n.160G= c.2015G= (p.Gly672=) c.639G= c.*1484G= (n.*1484G=) c.1975G= n.974G= n.264G= n.262G= c.35G= (p.Gly12=) n.995G= c.1835G= (p.Gly612=) c.*1281G= (n.*1281G=) c.1871G= (p.Gly624=) n.489G= n.51G= c.1382G= (p.Gly461=) c.2144G= (p.Gly715=) c.638G= (p.Gly213=) | |
| 16 | g.2071819G>T | CA394274378 | TSC2 | c.*529G>T (n.*529G>T) c.2027G>T (p.Gly676Val) c.1982G>T (p.Gly661Val) c.*1419G>T (n.*1419G>T) c.*1587G>T (n.*1587G>T) n.160G>T c.2015G>T (p.Gly672Val) c.639G>T c.*1484G>T (n.*1484G>T) c.1975G>T n.974G>T n.264G>T n.262G>T c.35G>T (p.Gly12Val) n.995G>T c.1835G>T (p.Gly612Val) c.*1281G>T (n.*1281G>T) c.1871G>T (p.Gly624Val) n.489G>T n.51G>T c.1382G>T (p.Gly461Val) c.2144G>T (p.Gly715Val) c.638G>T (p.Gly213Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071819_2071820delinsGC | CA2202023118 | TSC2 | c.*529_*530delinsGC (n.*529_*530delinsGC) c.2027_2028delinsGC (p.Gly676=) c.1982_1983delinsGC (p.Gly661=) c.*1419_*1420delinsGC (n.*1419_*1420delinsGC) c.*1587_*1588delinsGC (n.*1587_*1588delinsGC) n.160_161delinsGC c.2015_2016delinsGC (p.Gly672=) c.639_640delinsGC c.*1484_*1485delinsGC (n.*1484_*1485delinsGC) c.1975_1976delinsGC n.974_975delinsGC n.264_265delinsGC n.262_263delinsGC c.35_36delinsGC (p.Gly12=) n.995_996delinsGC c.1835_1836delinsGC (p.Gly612=) c.*1281_*1282delinsGC (n.*1281_*1282delinsGC) c.1871_1872delinsGC (p.Gly624=) n.489_490delinsGC n.51_52delinsGC c.1382_1383delinsGC (p.Gly461=) c.2144_2145delinsGC (p.Gly715=) c.638_639delinsGC (p.Gly213=) | |
| 16 | g.2071819_2071820delinsTT | CA016394 | TSC2 | c.*529_*530delinsTT (n.*529_*530delinsTT) c.2027_2028delinsTT (p.Gly676Val) c.1982_1983delinsTT (p.Gly661Val) c.*1419_*1420delinsTT (n.*1419_*1420delinsTT) c.*1587_*1588delinsTT (n.*1587_*1588delinsTT) n.160_161delinsTT c.2015_2016delinsTT (p.Gly672Val) c.639_640delinsTT c.*1484_*1485delinsTT (n.*1484_*1485delinsTT) c.1975_1976delinsTT n.974_975delinsTT n.264_265delinsTT n.262_263delinsTT c.35_36delinsTT (p.Gly12Val) n.995_996delinsTT c.1835_1836delinsTT (p.Gly612Val) c.*1281_*1282delinsTT (n.*1281_*1282delinsTT) c.1871_1872delinsTT (p.Gly624Val) n.489_490delinsTT n.51_52delinsTT c.1382_1383delinsTT (p.Gly461Val) c.2144_2145delinsTT (p.Gly715Val) c.638_639delinsTT (p.Gly213Val) | ClinVar dbSNP |
| 16 | g.2071820C>A | CA493042553 | TSC2 | c.*530C>A (n.*530C>A) c.2028C>A (p.Gly676=) c.1983C>A (p.Gly661=) c.*1420C>A (n.*1420C>A) c.*1588C>A (n.*1588C>A) n.161C>A c.2016C>A (p.Gly672=) c.640C>A c.*1485C>A (n.*1485C>A) c.1976C>A n.975C>A n.265C>A n.263C>A c.36C>A (p.Gly12=) n.996C>A c.1836C>A (p.Gly612=) c.*1282C>A (n.*1282C>A) c.1872C>A (p.Gly624=) n.490C>A n.52C>A c.1383C>A (p.Gly461=) c.2145C>A (p.Gly715=) c.639C>A (p.Gly213=) | dbSNP gnomAD v4 |
| 16 | g.2071820C= | CA2202023142 | TSC2 | c.*530C= (n.*530C=) c.2028C= (p.Gly676=) c.1983C= (p.Gly661=) c.*1420C= (n.*1420C=) c.*1588C= (n.*1588C=) n.161C= c.2016C= (p.Gly672=) c.640C= c.*1485C= (n.*1485C=) c.1976C= n.975C= n.265C= n.263C= c.36C= (p.Gly12=) n.996C= c.1836C= (p.Gly612=) c.*1282C= (n.*1282C=) c.1872C= (p.Gly624=) n.490C= n.52C= c.1383C= (p.Gly461=) c.2145C= (p.Gly715=) c.639C= (p.Gly213=) | |
| 16 | g.2071820C>G | CA493042554 | TSC2 | c.*530C>G (n.*530C>G) c.2028C>G (p.Gly676=) c.1983C>G (p.Gly661=) c.*1420C>G (n.*1420C>G) c.*1588C>G (n.*1588C>G) n.161C>G c.2016C>G (p.Gly672=) c.640C>G c.*1485C>G (n.*1485C>G) c.1976C>G n.975C>G n.265C>G n.263C>G c.36C>G (p.Gly12=) n.996C>G c.1836C>G (p.Gly612=) c.*1282C>G (n.*1282C>G) c.1872C>G (p.Gly624=) n.490C>G n.52C>G c.1383C>G (p.Gly461=) c.2145C>G (p.Gly715=) c.639C>G (p.Gly213=) | dbSNP |
| 16 | g.2071820C>T | CA493042555 | TSC2 | c.*530C>T (n.*530C>T) c.2028C>T (p.Gly676=) c.1983C>T (p.Gly661=) c.*1420C>T (n.*1420C>T) c.*1588C>T (n.*1588C>T) n.161C>T c.2016C>T (p.Gly672=) c.640C>T c.*1485C>T (n.*1485C>T) c.1976C>T n.975C>T n.265C>T n.263C>T c.36C>T (p.Gly12=) n.996C>T c.1836C>T (p.Gly612=) c.*1282C>T (n.*1282C>T) c.1872C>T (p.Gly624=) n.490C>T n.52C>T c.1383C>T (p.Gly461=) c.2145C>T (p.Gly715=) c.639C>T (p.Gly213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071824dup | CA016405 | TSC2 | c.*534dup (n.*534dup) c.2032dup (p.Leu678ProfsTer?) c.1987dup (p.Leu663ProfsTer?) c.*1424dup (n.*1424dup) c.*1592dup (n.*1592dup) n.165dup c.2020dup (p.Leu674ProfsTer?) c.644dup c.*1489dup (n.*1489dup) c.1980dup n.979dup n.269dup n.267dup c.40dup (p.Leu14ProfsTer?) n.1000dup c.1840dup (p.Leu614ProfsTer?) c.*1286dup (n.*1286dup) c.1876dup (p.Leu626ProfsTer?) n.494dup n.56dup c.1387dup (p.Leu463ProfsTer?) c.2149dup (p.Leu717ProfsTer?) c.643dup (p.Leu215ProfsTer?) | ClinVar dbSNP |
| 16 | g.2071824del | CA016409 | TSC2 | c.*534del (n.*534del) c.2032del (p.Leu678PhefsTer?) c.1987del (p.Leu663PhefsTer?) c.*1424del (n.*1424del) c.*1592del (n.*1592del) n.165del c.2020del (p.Leu674PhefsTer?) c.644del c.*1489del (n.*1489del) c.1980del n.979del n.269del n.267del c.40del (p.Leu14PhefsTer?) n.1000del c.1840del (p.Leu614PhefsTer?) c.*1286del (n.*1286del) c.1876del (p.Leu626PhefsTer?) n.494del n.56del c.1387del (p.Leu463PhefsTer?) c.2149del (p.Leu717PhefsTer?) c.643del (p.Leu215PhefsTer?) | ClinVar dbSNP COSMIC COSMIC |
| 16 | g.2071821C>A | CA394274384 | TSC2 | c.*531C>A (n.*531C>A) c.2029C>A (p.Pro677Thr) c.1984C>A (p.Pro662Thr) c.*1421C>A (n.*1421C>A) c.*1589C>A (n.*1589C>A) n.162C>A c.2017C>A (p.Pro673Thr) c.641C>A c.*1486C>A (n.*1486C>A) c.1977C>A n.976C>A n.266C>A n.264C>A c.37C>A (p.Pro13Thr) n.997C>A c.1837C>A (p.Pro613Thr) c.*1283C>A (n.*1283C>A) c.1873C>A (p.Pro625Thr) n.491C>A n.53C>A c.1384C>A (p.Pro462Thr) c.2146C>A (p.Pro716Thr) c.640C>A (p.Pro214Thr) | |
| 16 | g.2071821C= | CA2202023153 | TSC2 | c.*531C= (n.*531C=) c.2029C= (p.Pro677=) c.1984C= (p.Pro662=) c.*1421C= (n.*1421C=) c.*1589C= (n.*1589C=) n.162C= c.2017C= (p.Pro673=) c.641C= c.*1486C= (n.*1486C=) c.1977C= n.976C= n.266C= n.264C= c.37C= (p.Pro13=) n.997C= c.1837C= (p.Pro613=) c.*1283C= (n.*1283C=) c.1873C= (p.Pro625=) n.491C= n.53C= c.1384C= (p.Pro462=) c.2146C= (p.Pro716=) c.640C= (p.Pro214=) | |
| 16 | g.2071821C>G | CA394274385 | TSC2 | c.*531C>G (n.*531C>G) c.2029C>G (p.Pro677Ala) c.1984C>G (p.Pro662Ala) c.*1421C>G (n.*1421C>G) c.*1589C>G (n.*1589C>G) n.162C>G c.2017C>G (p.Pro673Ala) c.641C>G c.*1486C>G (n.*1486C>G) c.1977C>G n.976C>G n.266C>G n.264C>G c.37C>G (p.Pro13Ala) n.997C>G c.1837C>G (p.Pro613Ala) c.*1283C>G (n.*1283C>G) c.1873C>G (p.Pro625Ala) n.491C>G n.53C>G c.1384C>G (p.Pro462Ala) c.2146C>G (p.Pro716Ala) c.640C>G (p.Pro214Ala) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2071821C>T | CA394274386 | TSC2 | c.*531C>T (n.*531C>T) c.2029C>T (p.Pro677Ser) c.1984C>T (p.Pro662Ser) c.*1421C>T (n.*1421C>T) c.*1589C>T (n.*1589C>T) n.162C>T c.2017C>T (p.Pro673Ser) c.641C>T c.*1486C>T (n.*1486C>T) c.1977C>T n.976C>T n.266C>T n.264C>T c.37C>T (p.Pro13Ser) n.997C>T c.1837C>T (p.Pro613Ser) c.*1283C>T (n.*1283C>T) c.1873C>T (p.Pro625Ser) n.491C>T n.53C>T c.1384C>T (p.Pro462Ser) c.2146C>T (p.Pro716Ser) c.640C>T (p.Pro214Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2071821_2071822insAAAC | CA2805579052 | TSC2 | c.*531_*532insAAAC (n.*531_*532insAAAC) c.2029_2030insAAAC (p.Pro677GlnfsTer?) c.1984_1985insAAAC (p.Pro662GlnfsTer?) c.*1421_*1422insAAAC (n.*1421_*1422insAAAC) c.*1589_*1590insAAAC (n.*1589_*1590insAAAC) n.162_163insAAAC c.2017_2018insAAAC (p.Pro673GlnfsTer?) c.641_642insAAAC c.*1486_*1487insAAAC (n.*1486_*1487insAAAC) c.1977_1978insAAAC n.976_977insAAAC n.266_267insAAAC n.264_265insAAAC c.37_38insAAAC (p.Pro13GlnfsTer?) n.997_998insAAAC c.1837_1838insAAAC (p.Pro613GlnfsTer?) c.*1283_*1284insAAAC (n.*1283_*1284insAAAC) c.1873_1874insAAAC (p.Pro625GlnfsTer?) n.491_492insAAAC n.53_54insAAAC c.1384_1385insAAAC (p.Pro462GlnfsTer?) c.2146_2147insAAAC (p.Pro716GlnfsTer?) c.640_641insAAAC (p.Pro214GlnfsTer?) | |
| 16 | g.2071821_2071822insAGGTCACGGGGTAG | CA2805579058 | TSC2 | c.*531_*532insAGGTCACGGGGTAG (n.*531_*532insAGGTCACGGGGTAG) c.2029_2030insAGGTCACGGGGTAG (p.Pro677GlnfsTer5) c.1984_1985insAGGTCACGGGGTAG (p.Pro662GlnfsTer5) c.*1421_*1422insAGGTCACGGGGTAG (n.*1421_*1422insAGGTCACGGGGTAG) c.*1589_*1590insAGGTCACGGGGTAG (n.*1589_*1590insAGGTCACGGGGTAG) n.162_163insAGGTCACGGGGTAG c.2017_2018insAGGTCACGGGGTAG (p.Pro673GlnfsTer5) c.641_642insAGGTCACGGGGTAG c.*1486_*1487insAGGTCACGGGGTAG (n.*1486_*1487insAGGTCACGGGGTAG) c.1977_1978insAGGTCACGGGGTAG n.976_977insAGGTCACGGGGTAG n.266_267insAGGTCACGGGGTAG n.264_265insAGGTCACGGGGTAG c.37_38insAGGTCACGGGGTAG (p.Pro13GlnfsTer5) n.997_998insAGGTCACGGGGTAG c.1837_1838insAGGTCACGGGGTAG (p.Pro613GlnfsTer5) c.*1283_*1284insAGGTCACGGGGTAG (n.*1283_*1284insAGGTCACGGGGTAG) c.1873_1874insAGGTCACGGGGTAG (p.Pro625GlnfsTer5) n.491_492insAGGTCACGGGGTAG n.53_54insAGGTCACGGGGTAG c.1384_1385insAGGTCACGGGGTAG (p.Pro462GlnfsTer5) c.2146_2147insAGGTCACGGGGTAG (p.Pro716GlnfsTer5) c.640_641insAGGTCACGGGGTAG (p.Pro214GlnfsTer5) | |
| 16 | g.2071822C>A | CA394274388 | TSC2 | c.*532C>A (n.*532C>A) c.2030C>A (p.Pro677His) c.1985C>A (p.Pro662His) c.*1422C>A (n.*1422C>A) c.*1590C>A (n.*1590C>A) n.163C>A c.2018C>A (p.Pro673His) c.642C>A c.*1487C>A (n.*1487C>A) c.1978C>A n.977C>A n.267C>A n.265C>A c.38C>A (p.Pro13His) n.998C>A c.1838C>A (p.Pro613His) c.*1284C>A (n.*1284C>A) c.1874C>A (p.Pro625His) n.492C>A n.54C>A c.1385C>A (p.Pro462His) c.2147C>A (p.Pro716His) c.641C>A (p.Pro214His) | ClinVar dbSNP |
| 16 | g.2071822C= | CA2202023156 | TSC2 | c.*532C= (n.*532C=) c.2030C= (p.Pro677=) c.1985C= (p.Pro662=) c.*1422C= (n.*1422C=) c.*1590C= (n.*1590C=) n.163C= c.2018C= (p.Pro673=) c.642C= c.*1487C= (n.*1487C=) c.1978C= n.977C= n.267C= n.265C= c.38C= (p.Pro13=) n.998C= c.1838C= (p.Pro613=) c.*1284C= (n.*1284C=) c.1874C= (p.Pro625=) n.492C= n.54C= c.1385C= (p.Pro462=) c.2147C= (p.Pro716=) c.641C= (p.Pro214=) | |
| 16 | g.2071822C>G | CA394274390 | TSC2 | c.*532C>G (n.*532C>G) c.2030C>G (p.Pro677Arg) c.1985C>G (p.Pro662Arg) c.*1422C>G (n.*1422C>G) c.*1590C>G (n.*1590C>G) n.163C>G c.2018C>G (p.Pro673Arg) c.642C>G c.*1487C>G (n.*1487C>G) c.1978C>G n.977C>G n.267C>G n.265C>G c.38C>G (p.Pro13Arg) n.998C>G c.1838C>G (p.Pro613Arg) c.*1284C>G (n.*1284C>G) c.1874C>G (p.Pro625Arg) n.492C>G n.54C>G c.1385C>G (p.Pro462Arg) c.2147C>G (p.Pro716Arg) c.641C>G (p.Pro214Arg) | gnomAD v4 |
| 16 | g.2071822C>T | CA394274392 | TSC2 | c.*532C>T (n.*532C>T) c.2030C>T (p.Pro677Leu) c.1985C>T (p.Pro662Leu) c.*1422C>T (n.*1422C>T) c.*1590C>T (n.*1590C>T) n.163C>T c.2018C>T (p.Pro673Leu) c.642C>T c.*1487C>T (n.*1487C>T) c.1978C>T n.977C>T n.267C>T n.265C>T c.38C>T (p.Pro13Leu) n.998C>T c.1838C>T (p.Pro613Leu) c.*1284C>T (n.*1284C>T) c.1874C>T (p.Pro625Leu) n.492C>T n.54C>T c.1385C>T (p.Pro462Leu) c.2147C>T (p.Pro716Leu) c.641C>T (p.Pro214Leu) | ClinVar dbSNP |
| 16 | g.2071823C>A | CA493042556 | TSC2 | c.*533C>A (n.*533C>A) c.2031C>A (p.Pro677=) c.1986C>A (p.Pro662=) c.*1423C>A (n.*1423C>A) c.*1591C>A (n.*1591C>A) n.164C>A c.2019C>A (p.Pro673=) c.643C>A c.*1488C>A (n.*1488C>A) c.1979C>A n.978C>A n.268C>A n.266C>A c.39C>A (p.Pro13=) n.999C>A c.1839C>A (p.Pro613=) c.*1285C>A (n.*1285C>A) c.1875C>A (p.Pro625=) n.493C>A n.55C>A c.1386C>A (p.Pro462=) c.2148C>A (p.Pro716=) c.642C>A (p.Pro214=) | dbSNP |
| 16 | g.2071823C>G | CA493042557 | TSC2 | c.*533C>G (n.*533C>G) c.2031C>G (p.Pro677=) c.1986C>G (p.Pro662=) c.*1423C>G (n.*1423C>G) c.*1591C>G (n.*1591C>G) n.164C>G c.2019C>G (p.Pro673=) c.643C>G c.*1488C>G (n.*1488C>G) c.1979C>G n.978C>G n.268C>G n.266C>G c.39C>G (p.Pro13=) n.999C>G c.1839C>G (p.Pro613=) c.*1285C>G (n.*1285C>G) c.1875C>G (p.Pro625=) n.493C>G n.55C>G c.1386C>G (p.Pro462=) c.2148C>G (p.Pro716=) c.642C>G (p.Pro214=) | ClinVar dbSNP |
| 16 | g.2071823C>T | CA493042558 | TSC2 | c.*533C>T (n.*533C>T) c.2031C>T (p.Pro677=) c.1986C>T (p.Pro662=) c.*1423C>T (n.*1423C>T) c.*1591C>T (n.*1591C>T) n.164C>T c.2019C>T (p.Pro673=) c.643C>T c.*1488C>T (n.*1488C>T) c.1979C>T n.978C>T n.268C>T n.266C>T c.39C>T (p.Pro13=) n.999C>T c.1839C>T (p.Pro613=) c.*1285C>T (n.*1285C>T) c.1875C>T (p.Pro625=) n.493C>T n.55C>T c.1386C>T (p.Pro462=) c.2148C>T (p.Pro716=) c.642C>T (p.Pro214=) | ClinVar dbSNP |
| 16 | g.2071823_2071825delinsCCT | CA2202023159 | TSC2 | c.*533_*535delinsCCT (n.*533_*535delinsCCT) c.2031_2033delinsCCT (p.Pro677=) c.1986_1988delinsCCT (p.Pro662=) c.*1423_*1425delinsCCT (n.*1423_*1425delinsCCT) c.*1591_*1593delinsCCT (n.*1591_*1593delinsCCT) n.164_166delinsCCT c.2019_2021delinsCCT (p.Pro673=) c.643_645delinsCCT c.*1488_*1490delinsCCT (n.*1488_*1490delinsCCT) c.1979_1981delinsCCT n.978_980delinsCCT n.268_270delinsCCT n.266_268delinsCCT c.39_41delinsCCT (p.Pro13=) n.999_1001delinsCCT c.1839_1841delinsCCT (p.Pro613=) c.*1285_*1287delinsCCT (n.*1285_*1287delinsCCT) c.1875_1877delinsCCT (p.Pro625=) n.493_495delinsCCT n.55_57delinsCCT c.1386_1388delinsCCT (p.Pro462=) c.2148_2150delinsCCT (p.Pro716=) c.642_644delinsCCT (p.Pro214=) | |
| 16 | g.2071824C>A | CA394274394 | TSC2 | c.*534C>A (n.*534C>A) c.2032C>A (p.Leu678Ile) c.1987C>A (p.Leu663Ile) c.*1424C>A (n.*1424C>A) c.*1592C>A (n.*1592C>A) n.165C>A c.2020C>A (p.Leu674Ile) c.644C>A c.*1489C>A (n.*1489C>A) c.1980C>A n.979C>A n.269C>A n.267C>A c.40C>A (p.Leu14Ile) n.1000C>A c.1840C>A (p.Leu614Ile) c.*1286C>A (n.*1286C>A) c.1876C>A (p.Leu626Ile) n.494C>A n.56C>A c.1387C>A (p.Leu463Ile) c.2149C>A (p.Leu717Ile) c.643C>A (p.Leu215Ile) | |
| 16 | g.2071824C= | CA2202023170 | TSC2 | c.*534C= (n.*534C=) c.2032C= (p.Leu678=) c.1987C= (p.Leu663=) c.*1424C= (n.*1424C=) c.*1592C= (n.*1592C=) n.165C= c.2020C= (p.Leu674=) c.644C= c.*1489C= (n.*1489C=) c.1980C= n.979C= n.269C= n.267C= c.40C= (p.Leu14=) n.1000C= c.1840C= (p.Leu614=) c.*1286C= (n.*1286C=) c.1876C= (p.Leu626=) n.494C= n.56C= c.1387C= (p.Leu463=) c.2149C= (p.Leu717=) c.643C= (p.Leu215=) | |
| 16 | g.2071824C>G | CA394274396 | TSC2 | c.*534C>G (n.*534C>G) c.2032C>G (p.Leu678Val) c.1987C>G (p.Leu663Val) c.*1424C>G (n.*1424C>G) c.*1592C>G (n.*1592C>G) n.165C>G c.2020C>G (p.Leu674Val) c.644C>G c.*1489C>G (n.*1489C>G) c.1980C>G n.979C>G n.269C>G n.267C>G c.40C>G (p.Leu14Val) n.1000C>G c.1840C>G (p.Leu614Val) c.*1286C>G (n.*1286C>G) c.1876C>G (p.Leu626Val) n.494C>G n.56C>G c.1387C>G (p.Leu463Val) c.2149C>G (p.Leu717Val) c.643C>G (p.Leu215Val) | ClinVar dbSNP |
| 16 | g.2071824C>T | CA035428 | TSC2 | c.*534C>T (n.*534C>T) c.2032C>T (p.Leu678Phe) c.1987C>T (p.Leu663Phe) c.*1424C>T (n.*1424C>T) c.*1592C>T (n.*1592C>T) n.165C>T c.2020C>T (p.Leu674Phe) c.644C>T c.*1489C>T (n.*1489C>T) c.1980C>T n.979C>T n.269C>T n.267C>T c.40C>T (p.Leu14Phe) n.1000C>T c.1840C>T (p.Leu614Phe) c.*1286C>T (n.*1286C>T) c.1876C>T (p.Leu626Phe) n.494C>T n.56C>T c.1387C>T (p.Leu463Phe) c.2149C>T (p.Leu717Phe) c.643C>T (p.Leu215Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2071824_2071825del | CA915946252 | TSC2 | c.*534_*535del (n.*534_*535del) c.2032_2033del (p.Leu678PhefsTer?) c.1987_1988del (p.Leu663PhefsTer?) c.*1424_*1425del (n.*1424_*1425del) c.*1592_*1593del (n.*1592_*1593del) n.165_166del c.2020_2021del (p.Leu674PhefsTer?) c.644_645del c.*1489_*1490del (n.*1489_*1490del) c.1980_1981del n.979_980del n.269_270del n.267_268del c.40_41del (p.Leu14PhefsTer?) n.1000_1001del c.1840_1841del (p.Leu614PhefsTer?) c.*1286_*1287del (n.*1286_*1287del) c.1876_1877del (p.Leu626PhefsTer?) n.494_495del n.56_57del c.1387_1388del (p.Leu463PhefsTer?) c.2149_2150del (p.Leu717PhefsTer?) c.643_644del (p.Leu215PhefsTer?) | ClinVar dbSNP |
| 16 | g.2071825T>A | CA394274398 | TSC2 | c.*535T>A (n.*535T>A) c.2033T>A (p.Leu678His) c.1988T>A (p.Leu663His) c.*1425T>A (n.*1425T>A) c.*1593T>A (n.*1593T>A) n.166T>A c.2021T>A (p.Leu674His) c.645T>A c.*1490T>A (n.*1490T>A) c.1981T>A n.980T>A n.270T>A n.268T>A c.41T>A (p.Leu14His) n.1001T>A c.1841T>A (p.Leu614His) c.*1287T>A (n.*1287T>A) c.1877T>A (p.Leu626His) n.495T>A n.57T>A c.1388T>A (p.Leu463His) c.2150T>A (p.Leu717His) c.644T>A (p.Leu215His) | gnomAD v4 |