| 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.132905590_132905591delinsAA | CA2697558152 | TSC1 | c.1984_1985delinsTT (p.Glu662Leu) c.1987_1988delinsTT (p.Glu663Leu) c.1600_1601delinsTT (p.Glu534Leu) c.1624_1625delinsTT (p.Glu542Leu) c.1831_1832delinsTT (p.Glu611Leu) c.51_52delinsTT c.*1757_*1758delinsTT (n.*1757_*1758delinsTT) c.1834_1835delinsTT (p.Glu612Leu) c.505_506delinsTT (p.Glu169Leu) c.31_32delinsTT (p.Glu11Leu) c.724_725delinsTT (p.Glu242Leu) c.*1754_*1755delinsTT (n.*1754_*1755delinsTT) n.2362_2363delinsTT n.942_943delinsTT n.2838_2839delinsTT n.952_953delinsTT c.*1226_*1227delinsTT (n.*1226_*1227delinsTT) n.2863_2864delinsTT n.1051_1052delinsTT c.1621_1622delinsTT (p.Glu541Leu) | ClinVar |
| 9 | g.132905590_132905591delinsTC | CA1882413381 | TSC1 | c.1984_1985delinsGA (p.Glu662=) c.1987_1988delinsGA (p.Glu663=) c.1600_1601delinsGA (p.Glu534=) c.1624_1625delinsGA (p.Glu542=) c.1831_1832delinsGA (p.Glu611=) c.51_52delinsGA c.*1757_*1758delinsGA (n.*1757_*1758delinsGA) c.1834_1835delinsGA (p.Glu612=) c.505_506delinsGA (p.Glu169=) c.31_32delinsGA (p.Glu11=) c.724_725delinsGA (p.Glu242=) c.*1754_*1755delinsGA (n.*1754_*1755delinsGA) n.2362_2363delinsGA n.942_943delinsGA n.2838_2839delinsGA n.952_953delinsGA c.*1226_*1227delinsGA (n.*1226_*1227delinsGA) n.2863_2864delinsGA n.1051_1052delinsGA c.1621_1622delinsGA (p.Glu541=) | |
| 9 | g.132905591C>A | CA10603105 | TSC1 | c.1984G>T (p.Glu662Ter) c.1987G>T (p.Glu663Ter) c.1600G>T (p.Glu534Ter) c.1624G>T (p.Glu542Ter) c.1831G>T (p.Glu611Ter) c.51G>T c.*1757G>T (n.*1757G>T) c.1834G>T (p.Glu612Ter) c.505G>T (p.Glu169Ter) c.31G>T (p.Glu11Ter) c.724G>T (p.Glu242Ter) c.*1754G>T (n.*1754G>T) n.2362G>T n.942G>T n.2838G>T n.952G>T c.*1226G>T (n.*1226G>T) n.2863G>T n.1051G>T c.1621G>T (p.Glu541Ter) | ClinVar dbSNP |
| 9 | g.132905591C= | CA1882413386 | TSC1 | c.1984G= (p.Glu662=) c.1987G= (p.Glu663=) c.1600G= (p.Glu534=) c.1624G= (p.Glu542=) c.1831G= (p.Glu611=) c.51G= c.*1757G= (n.*1757G=) c.1834G= (p.Glu612=) c.505G= (p.Glu169=) c.31G= (p.Glu11=) c.724G= (p.Glu242=) c.*1754G= (n.*1754G=) n.2362G= n.942G= n.2838G= n.952G= c.*1226G= (n.*1226G=) n.2863G= n.1051G= c.1621G= (p.Glu541=) | |
| 9 | g.132905591C>G | CA375362256 | TSC1 | c.1984G>C (p.Glu662Gln) c.1987G>C (p.Glu663Gln) c.1600G>C (p.Glu534Gln) c.1624G>C (p.Glu542Gln) c.1831G>C (p.Glu611Gln) c.51G>C c.*1757G>C (n.*1757G>C) c.1834G>C (p.Glu612Gln) c.505G>C (p.Glu169Gln) c.31G>C (p.Glu11Gln) c.724G>C (p.Glu242Gln) c.*1754G>C (n.*1754G>C) n.2362G>C n.942G>C n.2838G>C n.952G>C c.*1226G>C (n.*1226G>C) n.2863G>C n.1051G>C c.1621G>C (p.Glu541Gln) | dbSNP |
| 9 | g.132905591C>T | CA375362258 | TSC1 | c.1984G>A (p.Glu662Lys) c.1987G>A (p.Glu663Lys) c.1600G>A (p.Glu534Lys) c.1624G>A (p.Glu542Lys) c.1831G>A (p.Glu611Lys) c.51G>A c.*1757G>A (n.*1757G>A) c.1834G>A (p.Glu612Lys) c.505G>A (p.Glu169Lys) c.31G>A (p.Glu11Lys) c.724G>A (p.Glu242Lys) c.*1754G>A (n.*1754G>A) n.2362G>A n.942G>A n.2838G>A n.952G>A c.*1226G>A (n.*1226G>A) n.2863G>A n.1051G>A c.1621G>A (p.Glu541Lys) | dbSNP |
| 9 | g.132905592del | CA591361270 | TSC1 | c.1984del (p.Glu662SerfsTer2) c.1987del (p.Glu663SerfsTer2) c.1600del (p.Glu534SerfsTer2) c.1624del (p.Glu542SerfsTer2) c.1831del (p.Glu611SerfsTer2) c.51del c.*1757del (n.*1757del) c.1834del (p.Glu612SerfsTer2) c.505del (p.Glu169SerfsTer2) c.31del (p.Glu11SerfsTer2) c.724del (p.Glu242SerfsTer2) c.*1754del (n.*1754del) n.2362del n.942del n.2838del n.952del c.*1226del (n.*1226del) n.2863del n.1051del c.1621del (p.Glu541SerfsTer2) | dbSNP gnomAD v2 |
| 9 | g.132905592C>A | CA375362260 | TSC1 | c.1983G>T (p.Lys661Asn) c.1986G>T (p.Lys662Asn) c.1599G>T (p.Lys533Asn) c.1623G>T (p.Lys541Asn) c.1830G>T (p.Lys610Asn) c.50G>T c.*1756G>T (n.*1756G>T) c.1833G>T (p.Lys611Asn) c.504G>T (p.Lys168Asn) c.30G>T (p.Lys10Asn) c.723G>T (p.Lys241Asn) c.*1753G>T (n.*1753G>T) n.2361G>T n.941G>T n.2837G>T n.951G>T c.*1225G>T (n.*1225G>T) n.2862G>T n.1050G>T c.1620G>T (p.Lys540Asn) | ClinVar |
| 9 | g.132905592C>G | CA375362262 | TSC1 | c.1983G>C (p.Lys661Asn) c.1986G>C (p.Lys662Asn) c.1599G>C (p.Lys533Asn) c.1623G>C (p.Lys541Asn) c.1830G>C (p.Lys610Asn) c.50G>C c.*1756G>C (n.*1756G>C) c.1833G>C (p.Lys611Asn) c.504G>C (p.Lys168Asn) c.30G>C (p.Lys10Asn) c.723G>C (p.Lys241Asn) c.*1753G>C (n.*1753G>C) n.2361G>C n.941G>C n.2837G>C n.951G>C c.*1225G>C (n.*1225G>C) n.2862G>C n.1050G>C c.1620G>C (p.Lys540Asn) | dbSNP |
| 9 | g.132905592C>T | CA467812876 | TSC1 | c.1983G>A (p.Lys661=) c.1986G>A (p.Lys662=) c.1599G>A (p.Lys533=) c.1623G>A (p.Lys541=) c.1830G>A (p.Lys610=) c.50G>A c.*1756G>A (n.*1756G>A) c.1833G>A (p.Lys611=) c.504G>A (p.Lys168=) c.30G>A (p.Lys10=) c.723G>A (p.Lys241=) c.*1753G>A (n.*1753G>A) n.2361G>A n.941G>A n.2837G>A n.951G>A c.*1225G>A (n.*1225G>A) n.2862G>A n.1050G>A c.1620G>A (p.Lys540=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.132905593T>A | CA375362267 | TSC1 | c.1982A>T (p.Lys661Met) c.1985A>T (p.Lys662Met) c.1598A>T (p.Lys533Met) c.1622A>T (p.Lys541Met) c.1829A>T (p.Lys610Met) c.49A>T c.*1755A>T (n.*1755A>T) c.1832A>T (p.Lys611Met) c.503A>T (p.Lys168Met) c.29A>T (p.Lys10Met) c.722A>T (p.Lys241Met) c.*1752A>T (n.*1752A>T) n.2360A>T n.940A>T n.2836A>T n.950A>T c.*1224A>T (n.*1224A>T) n.2861A>T n.1049A>T c.1619A>T (p.Lys540Met) | |
| 9 | g.132905593T>C | CA375362264 | TSC1 | c.1982A>G (p.Lys661Arg) c.1985A>G (p.Lys662Arg) c.1598A>G (p.Lys533Arg) c.1622A>G (p.Lys541Arg) c.1829A>G (p.Lys610Arg) c.49A>G c.*1755A>G (n.*1755A>G) c.1832A>G (p.Lys611Arg) c.503A>G (p.Lys168Arg) c.29A>G (p.Lys10Arg) c.722A>G (p.Lys241Arg) c.*1752A>G (n.*1752A>G) n.2360A>G n.940A>G n.2836A>G n.950A>G c.*1224A>G (n.*1224A>G) n.2861A>G n.1049A>G c.1619A>G (p.Lys540Arg) | dbSNP |
| 9 | g.132905593T>G | CA375362266 | TSC1 | c.1982A>C (p.Lys661Thr) c.1985A>C (p.Lys662Thr) c.1598A>C (p.Lys533Thr) c.1622A>C (p.Lys541Thr) c.1829A>C (p.Lys610Thr) c.49A>C c.*1755A>C (n.*1755A>C) c.1832A>C (p.Lys611Thr) c.503A>C (p.Lys168Thr) c.29A>C (p.Lys10Thr) c.722A>C (p.Lys241Thr) c.*1752A>C (n.*1752A>C) n.2360A>C n.940A>C n.2836A>C n.950A>C c.*1224A>C (n.*1224A>C) n.2861A>C n.1049A>C c.1619A>C (p.Lys540Thr) | ClinVar |
| 9 | g.132905594T>A | CA375362270 | TSC1 | c.1981A>T (p.Lys661Ter) c.1984A>T (p.Lys662Ter) c.1597A>T (p.Lys533Ter) c.1621A>T (p.Lys541Ter) c.1828A>T (p.Lys610Ter) c.48A>T c.*1754A>T (n.*1754A>T) c.1831A>T (p.Lys611Ter) c.502A>T (p.Lys168Ter) c.28A>T (p.Lys10Ter) c.721A>T (p.Lys241Ter) c.*1751A>T (n.*1751A>T) n.2359A>T n.939A>T n.2835A>T n.949A>T c.*1223A>T (n.*1223A>T) n.2860A>T n.1048A>T c.1618A>T (p.Lys540Ter) | COSMIC |
| 9 | g.132905594T>C | CA375362271 | TSC1 | c.1981A>G (p.Lys661Glu) c.1984A>G (p.Lys662Glu) c.1597A>G (p.Lys533Glu) c.1621A>G (p.Lys541Glu) c.1828A>G (p.Lys610Glu) c.48A>G c.*1754A>G (n.*1754A>G) c.1831A>G (p.Lys611Glu) c.502A>G (p.Lys168Glu) c.28A>G (p.Lys10Glu) c.721A>G (p.Lys241Glu) c.*1751A>G (n.*1751A>G) n.2359A>G n.939A>G n.2835A>G n.949A>G c.*1223A>G (n.*1223A>G) n.2860A>G n.1048A>G c.1618A>G (p.Lys540Glu) | |
| 9 | g.132905594T>G | CA375362272 | TSC1 | c.1981A>C (p.Lys661Gln) c.1984A>C (p.Lys662Gln) c.1597A>C (p.Lys533Gln) c.1621A>C (p.Lys541Gln) c.1828A>C (p.Lys610Gln) c.48A>C c.*1754A>C (n.*1754A>C) c.1831A>C (p.Lys611Gln) c.502A>C (p.Lys168Gln) c.28A>C (p.Lys10Gln) c.721A>C (p.Lys241Gln) c.*1751A>C (n.*1751A>C) n.2359A>C n.939A>C n.2835A>C n.949A>C c.*1223A>C (n.*1223A>C) n.2860A>C n.1048A>C c.1618A>C (p.Lys540Gln) | |
| 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.132905595G>A | CA467812880 | TSC1 | c.1980C>T (p.Ser660=) c.1983C>T (p.Ser661=) c.1596C>T (p.Ser532=) c.1620C>T (p.Ser540=) c.1827C>T (p.Ser609=) c.47C>T c.*1753C>T (n.*1753C>T) c.1830C>T (p.Ser610=) c.501C>T (p.Ser167=) c.27C>T (p.Ser9=) c.720C>T (p.Ser240=) c.*1750C>T (n.*1750C>T) n.2358C>T n.938C>T n.2834C>T n.948C>T c.*1222C>T (n.*1222C>T) n.2859C>T n.1047C>T c.1617C>T (p.Ser539=) | ClinVar dbSNP |
| 9 | g.132905595G>C | CA375362275 | TSC1 | c.1980C>G (p.Ser660Arg) c.1983C>G (p.Ser661Arg) c.1596C>G (p.Ser532Arg) c.1620C>G (p.Ser540Arg) c.1827C>G (p.Ser609Arg) c.47C>G c.*1753C>G (n.*1753C>G) c.1830C>G (p.Ser610Arg) c.501C>G (p.Ser167Arg) c.27C>G (p.Ser9Arg) c.720C>G (p.Ser240Arg) c.*1750C>G (n.*1750C>G) n.2358C>G n.938C>G n.2834C>G n.948C>G c.*1222C>G (n.*1222C>G) n.2859C>G n.1047C>G c.1617C>G (p.Ser539Arg) | dbSNP |
| 9 | g.132905595G>T | CA375362276 | TSC1 | c.1980C>A (p.Ser660Arg) c.1983C>A (p.Ser661Arg) c.1596C>A (p.Ser532Arg) c.1620C>A (p.Ser540Arg) c.1827C>A (p.Ser609Arg) c.47C>A c.*1753C>A (n.*1753C>A) c.1830C>A (p.Ser610Arg) c.501C>A (p.Ser167Arg) c.27C>A (p.Ser9Arg) c.720C>A (p.Ser240Arg) c.*1750C>A (n.*1750C>A) n.2358C>A n.938C>A n.2834C>A n.948C>A c.*1222C>A (n.*1222C>A) n.2859C>A n.1047C>A c.1617C>A (p.Ser539Arg) | ClinVar |
| 9 | g.132905596C>A | CA375362278 | TSC1 | c.1979G>T (p.Ser660Ile) c.1982G>T (p.Ser661Ile) c.1595G>T (p.Ser532Ile) c.1619G>T (p.Ser540Ile) c.1826G>T (p.Ser609Ile) c.46G>T c.*1752G>T (n.*1752G>T) c.1829G>T (p.Ser610Ile) c.500G>T (p.Ser167Ile) c.26G>T (p.Ser9Ile) c.719G>T (p.Ser240Ile) c.*1749G>T (n.*1749G>T) n.2357G>T n.937G>T n.2833G>T n.947G>T c.*1221G>T (n.*1221G>T) n.2858G>T n.1046G>T c.1616G>T (p.Ser539Ile) | COSMIC |
| 9 | g.132905596C= | CA1882413389 | TSC1 | c.1979G= (p.Ser660=) c.1982G= (p.Ser661=) c.1595G= (p.Ser532=) c.1619G= (p.Ser540=) c.1826G= (p.Ser609=) c.46G= c.*1752G= (n.*1752G=) c.1829G= (p.Ser610=) c.500G= (p.Ser167=) c.26G= (p.Ser9=) c.719G= (p.Ser240=) c.*1749G= (n.*1749G=) n.2357G= n.937G= n.2833G= n.947G= c.*1221G= (n.*1221G=) n.2858G= n.1046G= c.1616G= (p.Ser539=) | |
| 9 | g.132905596C>G | CA375362280 | TSC1 | c.1979G>C (p.Ser660Thr) c.1982G>C (p.Ser661Thr) c.1595G>C (p.Ser532Thr) c.1619G>C (p.Ser540Thr) c.1826G>C (p.Ser609Thr) c.46G>C c.*1752G>C (n.*1752G>C) c.1829G>C (p.Ser610Thr) c.500G>C (p.Ser167Thr) c.26G>C (p.Ser9Thr) c.719G>C (p.Ser240Thr) c.*1749G>C (n.*1749G>C) n.2357G>C n.937G>C n.2833G>C n.947G>C c.*1221G>C (n.*1221G>C) n.2858G>C n.1046G>C c.1616G>C (p.Ser539Thr) | dbSNP |
| 9 | g.132905596C>T | CA375362281 | TSC1 | c.1979G>A (p.Ser660Asn) c.1982G>A (p.Ser661Asn) c.1595G>A (p.Ser532Asn) c.1619G>A (p.Ser540Asn) c.1826G>A (p.Ser609Asn) c.46G>A c.*1752G>A (n.*1752G>A) c.1829G>A (p.Ser610Asn) c.500G>A (p.Ser167Asn) c.26G>A (p.Ser9Asn) c.719G>A (p.Ser240Asn) c.*1749G>A (n.*1749G>A) n.2357G>A n.937G>A n.2833G>A n.947G>A c.*1221G>A (n.*1221G>A) n.2858G>A n.1046G>A c.1616G>A (p.Ser539Asn) | dbSNP |
| 9 | g.132905597T>A | CA375362284 | TSC1 | c.1978A>T (p.Ser660Cys) c.1981A>T (p.Ser661Cys) c.1594A>T (p.Ser532Cys) c.1618A>T (p.Ser540Cys) c.1825A>T (p.Ser609Cys) c.45A>T c.*1751A>T (n.*1751A>T) c.1828A>T (p.Ser610Cys) c.499A>T (p.Ser167Cys) c.25A>T (p.Ser9Cys) c.718A>T (p.Ser240Cys) c.*1748A>T (n.*1748A>T) n.2356A>T n.936A>T n.2832A>T n.946A>T c.*1220A>T (n.*1220A>T) n.2857A>T n.1045A>T c.1615A>T (p.Ser539Cys) | |
| 9 | g.132905597T>C | CA375362285 | TSC1 | c.1978A>G (p.Ser660Gly) c.1981A>G (p.Ser661Gly) c.1594A>G (p.Ser532Gly) c.1618A>G (p.Ser540Gly) c.1825A>G (p.Ser609Gly) c.45A>G c.*1751A>G (n.*1751A>G) c.1828A>G (p.Ser610Gly) c.499A>G (p.Ser167Gly) c.25A>G (p.Ser9Gly) c.718A>G (p.Ser240Gly) c.*1748A>G (n.*1748A>G) n.2356A>G n.936A>G n.2832A>G n.946A>G c.*1220A>G (n.*1220A>G) n.2857A>G n.1045A>G c.1615A>G (p.Ser539Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132905597T>G | CA375362287 | TSC1 | c.1978A>C (p.Ser660Arg) c.1981A>C (p.Ser661Arg) c.1594A>C (p.Ser532Arg) c.1618A>C (p.Ser540Arg) c.1825A>C (p.Ser609Arg) c.45A>C c.*1751A>C (n.*1751A>C) c.1828A>C (p.Ser610Arg) c.499A>C (p.Ser167Arg) c.25A>C (p.Ser9Arg) c.718A>C (p.Ser240Arg) c.*1748A>C (n.*1748A>C) n.2356A>C n.936A>C n.2832A>C n.946A>C c.*1220A>C (n.*1220A>C) n.2857A>C n.1045A>C c.1615A>C (p.Ser539Arg) | |
| 9 | g.132905597T= | CA1882413392 | TSC1 | c.1978A= (p.Ser660=) c.1981A= (p.Ser661=) c.1594A= (p.Ser532=) c.1618A= (p.Ser540=) c.1825A= (p.Ser609=) c.45A= c.*1751A= (n.*1751A=) c.1828A= (p.Ser610=) c.499A= (p.Ser167=) c.25A= (p.Ser9=) c.718A= (p.Ser240=) c.*1748A= (n.*1748A=) n.2356A= n.936A= n.2832A= n.946A= c.*1220A= (n.*1220A=) n.2857A= n.1045A= c.1615A= (p.Ser539=) | |
| 9 | g.132905598G>A | CA467812883 | TSC1 | c.1977C>T (p.His659=) c.1980C>T (p.His660=) c.1593C>T (p.His531=) c.1617C>T (p.His539=) c.1824C>T (p.His608=) c.44C>T c.*1750C>T (n.*1750C>T) c.1827C>T (p.His609=) c.498C>T (p.His166=) c.24C>T (p.His8=) c.717C>T (p.His239=) c.*1747C>T (n.*1747C>T) n.2355C>T n.935C>T n.2831C>T n.945C>T c.*1219C>T (n.*1219C>T) n.2856C>T n.1044C>T c.1614C>T (p.His538=) | ClinVar dbSNP |
| 9 | g.132905598G>C | CA375362289 | TSC1 | c.1977C>G (p.His659Gln) c.1980C>G (p.His660Gln) c.1593C>G (p.His531Gln) c.1617C>G (p.His539Gln) c.1824C>G (p.His608Gln) c.44C>G c.*1750C>G (n.*1750C>G) c.1827C>G (p.His609Gln) c.498C>G (p.His166Gln) c.24C>G (p.His8Gln) c.717C>G (p.His239Gln) c.*1747C>G (n.*1747C>G) n.2355C>G n.935C>G n.2831C>G n.945C>G c.*1219C>G (n.*1219C>G) n.2856C>G n.1044C>G c.1614C>G (p.His538Gln) | dbSNP |
| 9 | g.132905598G>T | CA375362292 | TSC1 | c.1977C>A (p.His659Gln) c.1980C>A (p.His660Gln) c.1593C>A (p.His531Gln) c.1617C>A (p.His539Gln) c.1824C>A (p.His608Gln) c.44C>A c.*1750C>A (n.*1750C>A) c.1827C>A (p.His609Gln) c.498C>A (p.His166Gln) c.24C>A (p.His8Gln) c.717C>A (p.His239Gln) c.*1747C>A (n.*1747C>A) n.2355C>A n.935C>A n.2831C>A n.945C>A c.*1219C>A (n.*1219C>A) n.2856C>A n.1044C>A c.1614C>A (p.His538Gln) | |
| 9 | g.132905599T>A | CA375362294 | TSC1 | c.1976A>T (p.His659Leu) c.1979A>T (p.His660Leu) c.1592A>T (p.His531Leu) c.1616A>T (p.His539Leu) c.1823A>T (p.His608Leu) c.43A>T c.*1749A>T (n.*1749A>T) c.1826A>T (p.His609Leu) c.497A>T (p.His166Leu) c.23A>T (p.His8Leu) c.716A>T (p.His239Leu) c.*1746A>T (n.*1746A>T) n.2354A>T n.934A>T n.2830A>T n.944A>T c.*1218A>T (n.*1218A>T) n.2855A>T n.1043A>T c.1613A>T (p.His538Leu) | dbSNP |
| 9 | g.132905599T>C | CA375362297 | TSC1 | c.1976A>G (p.His659Arg) c.1979A>G (p.His660Arg) c.1592A>G (p.His531Arg) c.1616A>G (p.His539Arg) c.1823A>G (p.His608Arg) c.43A>G c.*1749A>G (n.*1749A>G) c.1826A>G (p.His609Arg) c.497A>G (p.His166Arg) c.23A>G (p.His8Arg) c.716A>G (p.His239Arg) c.*1746A>G (n.*1746A>G) n.2354A>G n.934A>G n.2830A>G n.944A>G c.*1218A>G (n.*1218A>G) n.2855A>G n.1043A>G c.1613A>G (p.His538Arg) | dbSNP |
| 9 | g.132905599T>G | CA375362296 | TSC1 | c.1976A>C (p.His659Pro) c.1979A>C (p.His660Pro) c.1592A>C (p.His531Pro) c.1616A>C (p.His539Pro) c.1823A>C (p.His608Pro) c.43A>C c.*1749A>C (n.*1749A>C) c.1826A>C (p.His609Pro) c.497A>C (p.His166Pro) c.23A>C (p.His8Pro) c.716A>C (p.His239Pro) c.*1746A>C (n.*1746A>C) n.2354A>C n.934A>C n.2830A>C n.944A>C c.*1218A>C (n.*1218A>C) n.2855A>C n.1043A>C c.1613A>C (p.His538Pro) | dbSNP |
| 9 | g.132905600G>A | CA375362299 | TSC1 | c.1975C>T (p.His659Tyr) c.1978C>T (p.His660Tyr) c.1591C>T (p.His531Tyr) c.1615C>T (p.His539Tyr) c.1822C>T (p.His608Tyr) c.42C>T c.*1748C>T (n.*1748C>T) c.1825C>T (p.His609Tyr) c.496C>T (p.His166Tyr) c.22C>T (p.His8Tyr) c.715C>T (p.His239Tyr) c.*1745C>T (n.*1745C>T) n.2353C>T n.933C>T n.2829C>T n.943C>T c.*1217C>T (n.*1217C>T) n.2854C>T n.1042C>T c.1612C>T (p.His538Tyr) | ClinVar dbSNP |
| 9 | g.132905600G>C | CA375362300 | TSC1 | c.1975C>G (p.His659Asp) c.1978C>G (p.His660Asp) c.1591C>G (p.His531Asp) c.1615C>G (p.His539Asp) c.1822C>G (p.His608Asp) c.42C>G c.*1748C>G (n.*1748C>G) c.1825C>G (p.His609Asp) c.496C>G (p.His166Asp) c.22C>G (p.His8Asp) c.715C>G (p.His239Asp) c.*1745C>G (n.*1745C>G) n.2353C>G n.933C>G n.2829C>G n.943C>G c.*1217C>G (n.*1217C>G) n.2854C>G n.1042C>G c.1612C>G (p.His538Asp) | |
| 9 | g.132905600G>T | CA375362302 | TSC1 | c.1975C>A (p.His659Asn) c.1978C>A (p.His660Asn) c.1591C>A (p.His531Asn) c.1615C>A (p.His539Asn) c.1822C>A (p.His608Asn) c.42C>A c.*1748C>A (n.*1748C>A) c.1825C>A (p.His609Asn) c.496C>A (p.His166Asn) c.22C>A (p.His8Asn) c.715C>A (p.His239Asn) c.*1745C>A (n.*1745C>A) n.2353C>A n.933C>A n.2829C>A n.943C>A c.*1217C>A (n.*1217C>A) n.2854C>A n.1042C>A c.1612C>A (p.His538Asn) | |
| 9 | g.132905601C>A | CA467812884 | TSC1 | c.1974G>T (p.Ala658=) c.1977G>T (p.Ala659=) c.1590G>T (p.Ala530=) c.1614G>T (p.Ala538=) c.1821G>T (p.Ala607=) c.41G>T c.*1747G>T (n.*1747G>T) c.1824G>T (p.Ala608=) c.495G>T (p.Ala165=) c.21G>T (p.Ala7=) c.714G>T (p.Ala238=) c.*1744G>T (n.*1744G>T) n.2352G>T n.932G>T n.2828G>T n.942G>T c.*1216G>T (n.*1216G>T) n.2853G>T n.1041G>T c.1611G>T (p.Ala537=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.132905601C= | CA1882413394 | TSC1 | c.1974G= (p.Ala658=) c.1977G= (p.Ala659=) c.1590G= (p.Ala530=) c.1614G= (p.Ala538=) c.1821G= (p.Ala607=) c.41G= c.*1747G= (n.*1747G=) c.1824G= (p.Ala608=) c.495G= (p.Ala165=) c.21G= (p.Ala7=) c.714G= (p.Ala238=) c.*1744G= (n.*1744G=) n.2352G= n.932G= n.2828G= n.942G= c.*1216G= (n.*1216G=) n.2853G= n.1041G= c.1611G= (p.Ala537=) | |
| 9 | g.132905601C>G | CA467812886 | TSC1 | c.1974G>C (p.Ala658=) c.1977G>C (p.Ala659=) c.1590G>C (p.Ala530=) c.1614G>C (p.Ala538=) c.1821G>C (p.Ala607=) c.41G>C c.*1747G>C (n.*1747G>C) c.1824G>C (p.Ala608=) c.495G>C (p.Ala165=) c.21G>C (p.Ala7=) c.714G>C (p.Ala238=) c.*1744G>C (n.*1744G>C) n.2352G>C n.932G>C n.2828G>C n.942G>C c.*1216G>C (n.*1216G>C) n.2853G>C n.1041G>C c.1611G>C (p.Ala537=) | dbSNP |
| 9 | g.132905601C>T | CA005699 | TSC1 | c.1974G>A (p.Ala658=) c.1977G>A (p.Ala659=) c.1590G>A (p.Ala530=) c.1614G>A (p.Ala538=) c.1821G>A (p.Ala607=) c.41G>A c.*1747G>A (n.*1747G>A) c.1824G>A (p.Ala608=) c.495G>A (p.Ala165=) c.21G>A (p.Ala7=) c.714G>A (p.Ala238=) c.*1744G>A (n.*1744G>A) n.2352G>A n.932G>A n.2828G>A n.942G>A c.*1216G>A (n.*1216G>A) n.2853G>A n.1041G>A c.1611G>A (p.Ala537=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132905602G>A | CA005692 | TSC1 | c.1973C>T (p.Ala658Val) c.1976C>T (p.Ala659Val) c.1589C>T (p.Ala530Val) c.1613C>T (p.Ala538Val) c.1820C>T (p.Ala607Val) c.40C>T c.*1746C>T (n.*1746C>T) c.1823C>T (p.Ala608Val) c.494C>T (p.Ala165Val) c.20C>T (p.Ala7Val) c.713C>T (p.Ala238Val) c.*1743C>T (n.*1743C>T) n.2351C>T n.931C>T n.2827C>T n.941C>T c.*1215C>T (n.*1215C>T) n.2852C>T n.1040C>T c.1610C>T (p.Ala537Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.132905602G>C | CA375362307 | TSC1 | c.1973C>G (p.Ala658Gly) c.1976C>G (p.Ala659Gly) c.1589C>G (p.Ala530Gly) c.1613C>G (p.Ala538Gly) c.1820C>G (p.Ala607Gly) c.40C>G c.*1746C>G (n.*1746C>G) c.1823C>G (p.Ala608Gly) c.494C>G (p.Ala165Gly) c.20C>G (p.Ala7Gly) c.713C>G (p.Ala238Gly) c.*1743C>G (n.*1743C>G) n.2351C>G n.931C>G n.2827C>G n.941C>G c.*1215C>G (n.*1215C>G) n.2852C>G n.1040C>G c.1610C>G (p.Ala537Gly) | dbSNP |
| 9 | g.132905602G= | CA1882413399 | TSC1 | c.1973C= (p.Ala658=) c.1976C= (p.Ala659=) c.1589C= (p.Ala530=) c.1613C= (p.Ala538=) c.1820C= (p.Ala607=) c.40C= c.*1746C= (n.*1746C=) c.1823C= (p.Ala608=) c.494C= (p.Ala165=) c.20C= (p.Ala7=) c.713C= (p.Ala238=) c.*1743C= (n.*1743C=) n.2351C= n.931C= n.2827C= n.941C= c.*1215C= (n.*1215C=) n.2852C= n.1040C= c.1610C= (p.Ala537=) | |
| 9 | g.132905602G>T | CA375362308 | TSC1 | c.1973C>A (p.Ala658Glu) c.1976C>A (p.Ala659Glu) c.1589C>A (p.Ala530Glu) c.1613C>A (p.Ala538Glu) c.1820C>A (p.Ala607Glu) c.40C>A c.*1746C>A (n.*1746C>A) c.1823C>A (p.Ala608Glu) c.494C>A (p.Ala165Glu) c.20C>A (p.Ala7Glu) c.713C>A (p.Ala238Glu) c.*1743C>A (n.*1743C>A) n.2351C>A n.931C>A n.2827C>A n.941C>A c.*1215C>A (n.*1215C>A) n.2852C>A n.1040C>A c.1610C>A (p.Ala537Glu) | |
| 9 | g.132905603C>A | CA375362309 | TSC1 | c.1972G>T (p.Ala658Ser) c.1975G>T (p.Ala659Ser) c.1588G>T (p.Ala530Ser) c.1612G>T (p.Ala538Ser) c.1819G>T (p.Ala607Ser) c.39G>T c.*1745G>T (n.*1745G>T) c.1822G>T (p.Ala608Ser) c.493G>T (p.Ala165Ser) c.19G>T (p.Ala7Ser) c.712G>T (p.Ala238Ser) c.*1742G>T (n.*1742G>T) n.2350G>T n.930G>T n.2826G>T n.940G>T c.*1214G>T (n.*1214G>T) n.2851G>T n.1039G>T c.1609G>T (p.Ala537Ser) | |
| 9 | g.132905603C= | CA1882413403 | TSC1 | c.1972G= (p.Ala658=) c.1975G= (p.Ala659=) c.1588G= (p.Ala530=) c.1612G= (p.Ala538=) c.1819G= (p.Ala607=) c.39G= c.*1745G= (n.*1745G=) c.1822G= (p.Ala608=) c.493G= (p.Ala165=) c.19G= (p.Ala7=) c.712G= (p.Ala238=) c.*1742G= (n.*1742G=) n.2350G= n.930G= n.2826G= n.940G= c.*1214G= (n.*1214G=) n.2851G= n.1039G= c.1609G= (p.Ala537=) | |
| 9 | g.132905603C>G | CA375362310 | TSC1 | c.1972G>C (p.Ala658Pro) c.1975G>C (p.Ala659Pro) c.1588G>C (p.Ala530Pro) c.1612G>C (p.Ala538Pro) c.1819G>C (p.Ala607Pro) c.39G>C c.*1745G>C (n.*1745G>C) c.1822G>C (p.Ala608Pro) c.493G>C (p.Ala165Pro) c.19G>C (p.Ala7Pro) c.712G>C (p.Ala238Pro) c.*1742G>C (n.*1742G>C) n.2350G>C n.930G>C n.2826G>C n.940G>C c.*1214G>C (n.*1214G>C) n.2851G>C n.1039G>C c.1609G>C (p.Ala537Pro) | dbSNP |
| 9 | g.132905603C>T | CA200888114 | TSC1 | c.1972G>A (p.Ala658Thr) c.1975G>A (p.Ala659Thr) c.1588G>A (p.Ala530Thr) c.1612G>A (p.Ala538Thr) c.1819G>A (p.Ala607Thr) c.39G>A c.*1745G>A (n.*1745G>A) c.1822G>A (p.Ala608Thr) c.493G>A (p.Ala165Thr) c.19G>A (p.Ala7Thr) c.712G>A (p.Ala238Thr) c.*1742G>A (n.*1742G>A) n.2350G>A n.930G>A n.2826G>A n.940G>A c.*1214G>A (n.*1214G>A) n.2851G>A n.1039G>A c.1609G>A (p.Ala537Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |