Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.17213655_17213856del | CA2581463432 | FLCN,MPRIP | c.1540_*1del (n.[c.1540_*1del;Lys514ProfsTer7]) c.*372+1130_*372+1331del (n.*372+1130_*372+1331del) c.562-3835_562-3634del c.1594_*1del (n.[c.1594_*1del;Lys532ProfsTer7]) c.1592+1130_1592+1331del (n.1592+1130_1592+1331del) c.1318_*1del (n.[c.1318_*1del;Lys440ProfsTer7]) n.1974_2175del | |
17 | g.17213795_17213817delinsTCTGTGTGTCCTCTTTGGGTCGA | CA2250413724 | FLCN,MPRIP | c.1578_1600delinsTCGACCCAAAGAGGACACACAGA (p.Ser526=) c.*372+1168_*372+1190delinsTCGACCCAAAGAGGACACACAGA (n.*372+1168_*372+1190delinsTCGACCCAAAGAGGACACACAGA) c.562-3695_562-3673delinsTCTGTGTGTCCTCTTTGGGTCGA c.1632_1654delinsTCGACCCAAAGAGGACACACAGA (p.Ser544=) c.1592+1168_1592+1190delinsTCGACCCAAAGAGGACACACAGA (n.1592+1168_1592+1190delinsTCGACCCAAAGAGGACACACAGA) c.1356_1378delinsTCGACCCAAAGAGGACACACAGA (p.Ser452=) n.2848_2870delinsTCGACCCAAAGAGGACACACAGA n.2012_2034delinsTCGACCCAAAGAGGACACACAGA | |
17 | g.17213800_17213821del | CA16043039 | FLCN,MPRIP | c.1578_1599del (p.Ser526ArgfsTer4) c.*372+1168_*372+1189del (n.*372+1168_*372+1189del) c.562-3690_562-3669del c.1632_1653del (p.Ser544ArgfsTer4) c.1592+1168_1592+1189del (n.1592+1168_1592+1189del) c.1356_1377del (p.Ser452ArgfsTer4) n.2848_2869del n.2012_2033del | ClinVar dbSNP |
17 | g.17213813_17213818dup | CA2697559472 | FLCN,MPRIP | c.1577_1582dup (p.Arg527_Pro528insArgArg) c.*372+1167_*372+1172dup (n.*372+1167_*372+1172dup) c.562-3677_562-3672dup c.1631_1636dup (p.Arg545_Pro546insArgArg) c.1592+1167_1592+1172dup (n.1592+1167_1592+1172dup) c.1355_1360dup (p.Arg453_Pro454insArgArg) n.2847_2852dup n.2011_2016dup | ClinVar |
17 | g.17213815C>A | CA398530444 | FLCN,MPRIP | c.1580G>T (p.Arg527Leu) c.*372+1170G>T (n.*372+1170G>T) c.562-3675C>A c.1634G>T (p.Arg545Leu) c.1592+1170G>T (n.1592+1170G>T) c.1358G>T (p.Arg453Leu) n.2850G>T n.2014G>T | ClinVar dbSNP gnomAD v4 |
17 | g.17213815C= | CA2250413793 | FLCN,MPRIP | c.1580G= (p.Arg527=) c.*372+1170G= (n.*372+1170G=) c.562-3675C= c.1634G= (p.Arg545=) c.1592+1170G= (n.1592+1170G=) c.1358G= (p.Arg453=) n.2850G= n.2014G= | |
17 | g.17213815C>G | CA398530445 | FLCN,MPRIP | c.1580G>C (p.Arg527Pro) c.*372+1170G>C (n.*372+1170G>C) c.562-3675C>G c.1634G>C (p.Arg545Pro) c.1592+1170G>C (n.1592+1170G>C) c.1358G>C (p.Arg453Pro) n.2850G>C n.2014G>C | ClinVar dbSNP |
17 | g.17213815C>T | CA8415934 | FLCN,MPRIP | c.1580G>A (p.Arg527Gln) c.*372+1170G>A (n.*372+1170G>A) c.562-3675C>T c.1634G>A (p.Arg545Gln) c.1592+1170G>A (n.1592+1170G>A) c.1358G>A (p.Arg453Gln) n.2850G>A n.2014G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.17213815_17213816insT | CA8415933 | FLCN,MPRIP | c.1579_1580insA (p.Arg527GlnfsTer?) c.*372+1169_*372+1170insA (n.*372+1169_*372+1170insA) c.562-3675_562-3674insT c.1633_1634insA (p.Arg545GlnfsTer?) c.1592+1169_1592+1170insA (n.1592+1169_1592+1170insA) c.1357_1358insA (p.Arg453GlnfsTer?) n.2849_2850insA n.2013_2014insA | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17213816G>A | CA10586246 | FLCN,MPRIP | c.1579C>T (p.Arg527Ter) c.*372+1169C>T (n.*372+1169C>T) c.562-3674G>A c.1633C>T (p.Arg545Ter) c.1592+1169C>T (n.1592+1169C>T) c.1357C>T (p.Arg453Ter) n.2849C>T n.2013C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.17213816G>C | CA398530446 | FLCN,MPRIP | c.1579C>G (p.Arg527Gly) c.*372+1169C>G (n.*372+1169C>G) c.562-3674G>C c.1633C>G (p.Arg545Gly) c.1592+1169C>G (n.1592+1169C>G) c.1357C>G (p.Arg453Gly) n.2849C>G n.2013C>G | dbSNP |
17 | g.17213816G= | CA2250413812 | FLCN,MPRIP | c.1579C= (p.Arg527=) c.*372+1169C= (n.*372+1169C=) c.562-3674G= c.1633C= (p.Arg545=) c.1592+1169C= (n.1592+1169C=) c.1357C= (p.Arg453=) n.2849C= n.2013C= | |
17 | g.17213816G>T | CA498163137 | FLCN,MPRIP | c.1579C>A (p.Arg527=) c.*372+1169C>A (n.*372+1169C>A) c.562-3674G>T c.1633C>A (p.Arg545=) c.1592+1169C>A (n.1592+1169C>A) c.1357C>A (p.Arg453=) n.2849C>A n.2013C>A | ClinVar dbSNP |
17 | g.17213816_17213831delinsTTAAAGAAG | CA2695224530 | FLCN,MPRIP | c.1564_1579delinsCTTCTTTAA (p.Thr522LeufsTer3) c.*372+1154_*372+1169delinsCTTCTTTAA (n.*372+1154_*372+1169delinsCTTCTTTAA) c.562-3674_562-3659delinsTTAAAGAAG c.1618_1633delinsCTTCTTTAA (p.Thr540LeufsTer3) c.1592+1154_1592+1169delinsCTTCTTTAA (n.1592+1154_1592+1169delinsCTTCTTTAA) c.1342_1357delinsCTTCTTTAA (p.Thr448LeufsTer3) n.2834_2849delinsCTTCTTTAA n.1998_2013delinsCTTCTTTAA | |
17 | g.17213817A>C | CA398530447 | FLCN,MPRIP | c.1578T>G (p.Ser526Arg) c.*372+1168T>G (n.*372+1168T>G) c.562-3673A>C c.1632T>G (p.Ser544Arg) c.1592+1168T>G (n.1592+1168T>G) c.1356T>G (p.Ser452Arg) n.2848T>G n.2012T>G | |
17 | g.17213817A>G | CA498163139 | FLCN,MPRIP | c.1578T>C (p.Ser526=) c.*372+1168T>C (n.*372+1168T>C) c.562-3673A>G c.1632T>C (p.Ser544=) c.1592+1168T>C (n.1592+1168T>C) c.1356T>C (p.Ser452=) n.2848T>C n.2012T>C | |
17 | g.17213817A>T | CA398530448 | FLCN,MPRIP | c.1578T>A (p.Ser526Arg) c.*372+1168T>A (n.*372+1168T>A) c.562-3673A>T c.1632T>A (p.Ser544Arg) c.1592+1168T>A (n.1592+1168T>A) c.1356T>A (p.Ser452Arg) n.2848T>A n.2012T>A | dbSNP |
17 | g.17213818C>A | CA398530449 | FLCN,MPRIP | c.1577G>T (p.Ser526Ile) c.*372+1167G>T (n.*372+1167G>T) c.562-3672C>A c.1631G>T (p.Ser544Ile) c.1592+1167G>T (n.1592+1167G>T) c.1355G>T (p.Ser452Ile) n.2847G>T n.2011G>T | |
17 | g.17213818C>G | CA398530450 | FLCN,MPRIP | c.1577G>C (p.Ser526Thr) c.*372+1167G>C (n.*372+1167G>C) c.562-3672C>G c.1631G>C (p.Ser544Thr) c.1592+1167G>C (n.1592+1167G>C) c.1355G>C (p.Ser452Thr) n.2847G>C n.2011G>C | dbSNP |
17 | g.17213818C>T | CA398530451 | FLCN,MPRIP | c.1577G>A (p.Ser526Asn) c.*372+1167G>A (n.*372+1167G>A) c.562-3672C>T c.1631G>A (p.Ser544Asn) c.1592+1167G>A (n.1592+1167G>A) c.1355G>A (p.Ser452Asn) n.2847G>A n.2011G>A | ClinVar dbSNP |
17 | g.17213819T>A | CA398530452 | FLCN,MPRIP | c.1576A>T (p.Ser526Cys) c.*372+1166A>T (n.*372+1166A>T) c.562-3671T>A c.1630A>T (p.Ser544Cys) c.1592+1166A>T (n.1592+1166A>T) c.1354A>T (p.Ser452Cys) n.2846A>T n.2010A>T | |
17 | g.17213819T>C | CA398530453 | FLCN,MPRIP | c.1576A>G (p.Ser526Gly) c.*372+1166A>G (n.*372+1166A>G) c.562-3671T>C c.1630A>G (p.Ser544Gly) c.1592+1166A>G (n.1592+1166A>G) c.1354A>G (p.Ser452Gly) n.2846A>G n.2010A>G | ClinVar dbSNP gnomAD v4 |
17 | g.17213819T>G | CA398530454 | FLCN,MPRIP | c.1576A>C (p.Ser526Arg) c.*372+1166A>C (n.*372+1166A>C) c.562-3671T>G c.1630A>C (p.Ser544Arg) c.1592+1166A>C (n.1592+1166A>C) c.1354A>C (p.Ser452Arg) n.2846A>C n.2010A>C | |
17 | g.17213819T= | CA2250413818 | FLCN,MPRIP | c.1576A= (p.Ser526=) c.*372+1166A= (n.*372+1166A=) c.562-3671T= c.1630A= (p.Ser544=) c.1592+1166A= (n.1592+1166A=) c.1354A= (p.Ser452=) n.2846A= n.2010A= | |
17 | g.17213820G>A | CA498163143 | FLCN,MPRIP | c.1575C>T (p.Asp525=) c.*372+1165C>T (n.*372+1165C>T) c.562-3670G>A c.1629C>T (p.Asp543=) c.1592+1165C>T (n.1592+1165C>T) c.1353C>T (p.Asp451=) n.2845C>T n.2009C>T | ClinVar dbSNP gnomAD v4 |
17 | g.17213820G>C | CA398530456 | FLCN,MPRIP | c.1575C>G (p.Asp525Glu) c.*372+1165C>G (n.*372+1165C>G) c.562-3670G>C c.1629C>G (p.Asp543Glu) c.1592+1165C>G (n.1592+1165C>G) c.1353C>G (p.Asp451Glu) n.2845C>G n.2009C>G | dbSNP |
17 | g.17213820G>T | CA398530455 | FLCN,MPRIP | c.1575C>A (p.Asp525Glu) c.*372+1165C>A (n.*372+1165C>A) c.562-3670G>T c.1629C>A (p.Asp543Glu) c.1592+1165C>A (n.1592+1165C>A) c.1353C>A (p.Asp451Glu) n.2845C>A n.2009C>A | |
17 | g.17213821T>A | CA398530457 | FLCN,MPRIP | c.1574A>T (p.Asp525Val) c.*372+1164A>T (n.*372+1164A>T) c.562-3669T>A c.1628A>T (p.Asp543Val) c.1592+1164A>T (n.1592+1164A>T) c.1352A>T (p.Asp451Val) n.2844A>T n.2008A>T | |
17 | g.17213821T>C | CA398530459 | FLCN,MPRIP | c.1574A>G (p.Asp525Gly) c.*372+1164A>G (n.*372+1164A>G) c.562-3669T>C c.1628A>G (p.Asp543Gly) c.1592+1164A>G (n.1592+1164A>G) c.1352A>G (p.Asp451Gly) n.2844A>G n.2008A>G | ClinVar dbSNP |
17 | g.17213821T>G | CA398530458 | FLCN,MPRIP | c.1574A>C (p.Asp525Ala) c.*372+1164A>C (n.*372+1164A>C) c.562-3669T>G c.1628A>C (p.Asp543Ala) c.1592+1164A>C (n.1592+1164A>C) c.1352A>C (p.Asp451Ala) n.2844A>C n.2008A>C | |
17 | g.17213821T= | CA2250413825 | FLCN,MPRIP | c.1574A= (p.Asp525=) c.*372+1164A= (n.*372+1164A=) c.562-3669T= c.1628A= (p.Asp543=) c.1592+1164A= (n.1592+1164A=) c.1352A= (p.Asp451=) n.2844A= n.2008A= | |
17 | g.17213822C>A | CA398530460 | FLCN,MPRIP | c.1573G>T (p.Asp525Tyr) c.*372+1163G>T (n.*372+1163G>T) c.562-3668C>A c.1627G>T (p.Asp543Tyr) c.1592+1163G>T (n.1592+1163G>T) c.1351G>T (p.Asp451Tyr) n.2843G>T n.2007G>T | dbSNP |
17 | g.17213822C>G | CA398530462 | FLCN,MPRIP | c.1573G>C (p.Asp525His) c.*372+1163G>C (n.*372+1163G>C) c.562-3668C>G c.1627G>C (p.Asp543His) c.1592+1163G>C (n.1592+1163G>C) c.1351G>C (p.Asp451His) n.2843G>C n.2007G>C | dbSNP gnomAD v4 |
17 | g.17213822C>T | CA398530461 | FLCN,MPRIP | c.1573G>A (p.Asp525Asn) c.*372+1163G>A (n.*372+1163G>A) c.562-3668C>T c.1627G>A (p.Asp543Asn) c.1592+1163G>A (n.1592+1163G>A) c.1351G>A (p.Asp451Asn) n.2843G>A n.2007G>A | dbSNP |
17 | g.17213823C>A | CA498163148 | FLCN,MPRIP | c.1572G>T (p.Val524=) c.*372+1162G>T (n.*372+1162G>T) c.562-3667C>A c.1626G>T (p.Val542=) c.1592+1162G>T (n.1592+1162G>T) c.1350G>T (p.Val450=) n.2842G>T n.2006G>T | |
17 | g.17213823C= | CA2250413830 | FLCN,MPRIP | c.1572G= (p.Val524=) c.*372+1162G= (n.*372+1162G=) c.562-3667C= c.1626G= (p.Val542=) c.1592+1162G= (n.1592+1162G=) c.1350G= (p.Val450=) n.2842G= n.2006G= | |
17 | g.17213823C>G | CA498163150 | FLCN,MPRIP | c.1572G>C (p.Val524=) c.*372+1162G>C (n.*372+1162G>C) c.562-3667C>G c.1626G>C (p.Val542=) c.1592+1162G>C (n.1592+1162G>C) c.1350G>C (p.Val450=) n.2842G>C n.2006G>C | |
17 | g.17213823C>T | CA498163151 | FLCN,MPRIP | c.1572G>A (p.Val524=) c.*372+1162G>A (n.*372+1162G>A) c.562-3667C>T c.1626G>A (p.Val542=) c.1592+1162G>A (n.1592+1162G>A) c.1350G>A (p.Val450=) n.2842G>A n.2006G>A | dbSNP |
17 | g.17213824A= | CA2250413833 | FLCN,MPRIP | c.1571T= (p.Val524=) c.*372+1161T= (n.*372+1161T=) c.562-3666A= c.1625T= (p.Val542=) c.1592+1161T= (n.1592+1161T=) c.1349T= (p.Val450=) n.2841T= n.2005T= | |
17 | g.17213824A>C | CA398530463 | FLCN,MPRIP | c.1571T>G (p.Val524Gly) c.*372+1161T>G (n.*372+1161T>G) c.562-3666A>C c.1625T>G (p.Val542Gly) c.1592+1161T>G (n.1592+1161T>G) c.1349T>G (p.Val450Gly) n.2841T>G n.2005T>G | ClinVar dbSNP |
17 | g.17213824A>G | CA398530465 | FLCN,MPRIP | c.1571T>C (p.Val524Ala) c.*372+1161T>C (n.*372+1161T>C) c.562-3666A>G c.1625T>C (p.Val542Ala) c.1592+1161T>C (n.1592+1161T>C) c.1349T>C (p.Val450Ala) n.2841T>C n.2005T>C | |
17 | g.17213824A>T | CA398530464 | FLCN,MPRIP | c.1571T>A (p.Val524Glu) c.*372+1161T>A (n.*372+1161T>A) c.562-3666A>T c.1625T>A (p.Val542Glu) c.1592+1161T>A (n.1592+1161T>A) c.1349T>A (p.Val450Glu) n.2841T>A n.2005T>A | dbSNP |
17 | g.17213825C>A | CA398530466 | FLCN,MPRIP | c.1570G>T (p.Val524Leu) c.*372+1160G>T (n.*372+1160G>T) c.562-3665C>A c.1624G>T (p.Val542Leu) c.1592+1160G>T (n.1592+1160G>T) c.1348G>T (p.Val450Leu) n.2840G>T n.2004G>T | dbSNP |
17 | g.17213825C>G | CA398530467 | FLCN,MPRIP | c.1570G>C (p.Val524Leu) c.*372+1160G>C (n.*372+1160G>C) c.562-3665C>G c.1624G>C (p.Val542Leu) c.1592+1160G>C (n.1592+1160G>C) c.1348G>C (p.Val450Leu) n.2840G>C n.2004G>C | ClinVar dbSNP |
17 | g.17213825C>T | CA398530468 | FLCN,MPRIP | c.1570G>A (p.Val524Met) c.*372+1160G>A (n.*372+1160G>A) c.562-3665C>T c.1624G>A (p.Val542Met) c.1592+1160G>A (n.1592+1160G>A) c.1348G>A (p.Val450Met) n.2840G>A n.2004G>A | dbSNP |
17 | g.17213826C>A | CA398530469 | FLCN,MPRIP | c.1569G>T (p.Lys523Asn) c.*372+1159G>T (n.*372+1159G>T) c.562-3664C>A c.1623G>T (p.Lys541Asn) c.1592+1159G>T (n.1592+1159G>T) c.1347G>T (p.Lys449Asn) n.2839G>T n.2003G>T | |
17 | g.17213826C>G | CA398530470 | FLCN,MPRIP | c.1569G>C (p.Lys523Asn) c.*372+1159G>C (n.*372+1159G>C) c.562-3664C>G c.1623G>C (p.Lys541Asn) c.1592+1159G>C (n.1592+1159G>C) c.1347G>C (p.Lys449Asn) n.2839G>C n.2003G>C | dbSNP |
17 | g.17213826C>T | CA498163153 | FLCN,MPRIP | c.1569G>A (p.Lys523=) c.*372+1159G>A (n.*372+1159G>A) c.562-3664C>T c.1623G>A (p.Lys541=) c.1592+1159G>A (n.1592+1159G>A) c.1347G>A (p.Lys449=) n.2839G>A n.2003G>A | ClinVar |
17 | g.17213827T>A | CA398530471 | FLCN,MPRIP | c.1568A>T (p.Lys523Met) c.*372+1158A>T (n.*372+1158A>T) c.562-3663T>A c.1622A>T (p.Lys541Met) c.1592+1158A>T (n.1592+1158A>T) c.1346A>T (p.Lys449Met) n.2838A>T n.2002A>T | dbSNP |
17 | g.17213827T>C | CA288303741 | FLCN,MPRIP | c.1568A>G (p.Lys523Arg) c.*372+1158A>G (n.*372+1158A>G) c.562-3663T>C c.1622A>G (p.Lys541Arg) c.1592+1158A>G (n.1592+1158A>G) c.1346A>G (p.Lys449Arg) n.2838A>G n.2002A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |