| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.150733111G>A | CA1080161 | CTSS | c.931C>T (p.Arg311Trp) c.703C>T (p.Arg235Trp) c.*125C>T (n.*125C>T) c.828C>T (p.Phe276=) c.658C>T (p.Arg220Trp) c.781C>T (p.Arg261Trp) c.*14C>T (n.*14C>T) c.*102C>T (n.*102C>T) c.754C>T (p.Arg252Trp) c.*281C>T (n.*281C>T) n.321C>T c.224C>T c.479C>T (n.479C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.150733111G>C | CA342322434 | CTSS | c.931C>G (p.Arg311Gly) c.703C>G (p.Arg235Gly) c.*125C>G (n.*125C>G) c.828C>G (p.Phe276Leu) c.658C>G (p.Arg220Gly) c.781C>G (p.Arg261Gly) c.*14C>G (n.*14C>G) c.*102C>G (n.*102C>G) c.754C>G (p.Arg252Gly) c.*281C>G (n.*281C>G) n.321C>G c.224C>G c.479C>G (n.479C>G) | |
| 1 | g.150733111G= | CA1141911572 | CTSS | c.931C= (p.Arg311=) c.703C= (p.Arg235=) c.*125C= (n.*125C=) c.828C= (p.Phe276=) c.658C= (p.Arg220=) c.781C= (p.Arg261=) c.*14C= (n.*14C=) c.*102C= (n.*102C=) c.754C= (p.Arg252=) c.*281C= (n.*281C=) n.321C= c.224C= c.479C= (n.479C=) | |
| 1 | g.150733111G>T | CA420696576 | CTSS | c.931C>A (p.Arg311=) c.703C>A (p.Arg235=) c.*125C>A (n.*125C>A) c.828C>A (p.Phe276Leu) c.658C>A (p.Arg220=) c.781C>A (p.Arg261=) c.*14C>A (n.*14C>A) c.*102C>A (n.*102C>A) c.754C>A (p.Arg252=) c.*281C>A (n.*281C>A) n.321C>A c.224C>A c.479C>A (n.479C>A) | gnomAD v4 |
| 1 | g.150733112A>C | CA342322435 | CTSS | c.930T>G (p.Ile310Met) c.702T>G (p.Ile234Met) c.*124T>G (n.*124T>G) c.827T>G (p.Phe276Cys) c.657T>G (p.Ile219Met) c.780T>G (p.Ile260Met) c.*13T>G (n.*13T>G) c.*101T>G (n.*101T>G) c.753T>G (p.Ile251Met) c.*280T>G (n.*280T>G) n.320T>G c.223T>G c.478T>G (n.478T>G) | |
| 1 | g.150733112A>G | CA420696577 | CTSS | c.930T>C (p.Ile310=) c.702T>C (p.Ile234=) c.*124T>C (n.*124T>C) c.827T>C (p.Phe276Ser) c.657T>C (p.Ile219=) c.780T>C (p.Ile260=) c.*13T>C (n.*13T>C) c.*101T>C (n.*101T>C) c.753T>C (p.Ile251=) c.*280T>C (n.*280T>C) n.320T>C c.223T>C c.478T>C (n.478T>C) | |
| 1 | g.150733112A>T | CA420696578 | CTSS | c.930T>A (p.Ile310=) c.702T>A (p.Ile234=) c.*124T>A (n.*124T>A) c.827T>A (p.Phe276Tyr) c.657T>A (p.Ile219=) c.780T>A (p.Ile260=) c.*13T>A (n.*13T>A) c.*101T>A (n.*101T>A) c.753T>A (p.Ile251=) c.*280T>A (n.*280T>A) n.320T>A c.223T>A c.478T>A (n.478T>A) | |
| 1 | g.150733113A>C | CA342322436 | CTSS | c.929T>G (p.Ile310Ser) c.701T>G (p.Ile234Ser) c.*123T>G (n.*123T>G) c.826T>G (p.Phe276Val) c.656T>G (p.Ile219Ser) c.779T>G (p.Ile260Ser) c.*12T>G (n.*12T>G) c.*100T>G (n.*100T>G) c.752T>G (p.Ile251Ser) c.*279T>G (n.*279T>G) n.319T>G c.222T>G c.477T>G (n.477T>G) | |
| 1 | g.150733113A>G | CA342322437 | CTSS | c.929T>C (p.Ile310Thr) c.701T>C (p.Ile234Thr) c.*123T>C (n.*123T>C) c.826T>C (p.Phe276Leu) c.656T>C (p.Ile219Thr) c.779T>C (p.Ile260Thr) c.*12T>C (n.*12T>C) c.*100T>C (n.*100T>C) c.752T>C (p.Ile251Thr) c.*279T>C (n.*279T>C) n.319T>C c.222T>C c.477T>C (n.477T>C) | gnomAD v4 |
| 1 | g.150733113A>T | CA342322438 | CTSS | c.929T>A (p.Ile310Asn) c.701T>A (p.Ile234Asn) c.*123T>A (n.*123T>A) c.826T>A (p.Phe276Ile) c.656T>A (p.Ile219Asn) c.779T>A (p.Ile260Asn) c.*12T>A (n.*12T>A) c.*100T>A (n.*100T>A) c.752T>A (p.Ile251Asn) c.*279T>A (n.*279T>A) n.319T>A c.222T>A c.477T>A (n.477T>A) | |
| 1 | g.150733114T>A | CA342322439 | CTSS | c.928A>T (p.Ile310Phe) c.700A>T (p.Ile234Phe) c.*122A>T (n.*122A>T) c.825A>T (p.Ile275=) c.655A>T (p.Ile219Phe) c.778A>T (p.Ile260Phe) c.*11A>T (n.*11A>T) c.*99A>T (n.*99A>T) c.751A>T (p.Ile251Phe) c.*278A>T (n.*278A>T) n.318A>T c.221A>T c.476A>T (n.476A>T) | |
| 1 | g.150733114T>C | CA342322440 | CTSS | c.928A>G (p.Ile310Val) c.700A>G (p.Ile234Val) c.*122A>G (n.*122A>G) c.825A>G (p.Ile275Met) c.655A>G (p.Ile219Val) c.778A>G (p.Ile260Val) c.*11A>G (n.*11A>G) c.*99A>G (n.*99A>G) c.751A>G (p.Ile251Val) c.*278A>G (n.*278A>G) n.318A>G c.221A>G c.476A>G (n.476A>G) | dbSNP |
| 1 | g.150733114T>G | CA342322441 | CTSS | c.928A>C (p.Ile310Leu) c.700A>C (p.Ile234Leu) c.*122A>C (n.*122A>C) c.825A>C (p.Ile275=) c.655A>C (p.Ile219Leu) c.778A>C (p.Ile260Leu) c.*11A>C (n.*11A>C) c.*99A>C (n.*99A>C) c.751A>C (p.Ile251Leu) c.*278A>C (n.*278A>C) n.318A>C c.221A>C c.476A>C (n.476A>C) | |
| 1 | g.150733115A>C | CA342322442 | CTSS | c.927T>G (p.Tyr309Ter) c.699T>G (p.Tyr233Ter) c.*121T>G (n.*121T>G) c.824T>G (p.Ile275Arg) c.654T>G (p.Tyr218Ter) c.777T>G (p.Tyr259Ter) c.*10T>G (n.*10T>G) c.*98T>G (n.*98T>G) c.750T>G (p.Tyr250Ter) c.*277T>G (n.*277T>G) n.317T>G c.220T>G c.475T>G (n.475T>G) | |
| 1 | g.150733115A>G | CA420696579 | CTSS | c.927T>C (p.Tyr309=) c.699T>C (p.Tyr233=) c.*121T>C (n.*121T>C) c.824T>C (p.Ile275Thr) c.654T>C (p.Tyr218=) c.777T>C (p.Tyr259=) c.*10T>C (n.*10T>C) c.*98T>C (n.*98T>C) c.750T>C (p.Tyr250=) c.*277T>C (n.*277T>C) n.317T>C c.220T>C c.475T>C (n.475T>C) | |
| 1 | g.150733115A>T | CA342322443 | CTSS | c.927T>A (p.Tyr309Ter) c.699T>A (p.Tyr233Ter) c.*121T>A (n.*121T>A) c.824T>A (p.Ile275Lys) c.654T>A (p.Tyr218Ter) c.777T>A (p.Tyr259Ter) c.*10T>A (n.*10T>A) c.*98T>A (n.*98T>A) c.750T>A (p.Tyr250Ter) c.*277T>A (n.*277T>A) n.317T>A c.220T>A c.475T>A (n.475T>A) | |
| 1 | g.150733116T>A | CA342322445 | CTSS | c.926A>T (p.Tyr309Phe) c.698A>T (p.Tyr233Phe) c.*120A>T (n.*120A>T) c.823A>T (p.Ile275Leu) c.653A>T (p.Tyr218Phe) c.776A>T (p.Tyr259Phe) c.*9A>T (n.*9A>T) c.*97A>T (n.*97A>T) c.749A>T (p.Tyr250Phe) c.*276A>T (n.*276A>T) n.316A>T c.219A>T c.474A>T (n.474A>T) | |
| 1 | g.150733116T>C | CA342322446 | CTSS | c.926A>G (p.Tyr309Cys) c.698A>G (p.Tyr233Cys) c.*120A>G (n.*120A>G) c.823A>G (p.Ile275Val) c.653A>G (p.Tyr218Cys) c.776A>G (p.Tyr259Cys) c.*9A>G (n.*9A>G) c.*97A>G (n.*97A>G) c.749A>G (p.Tyr250Cys) c.*276A>G (n.*276A>G) n.316A>G c.219A>G c.474A>G (n.474A>G) | |
| 1 | g.150733116T>G | CA342322444 | CTSS | c.926A>C (p.Tyr309Ser) c.698A>C (p.Tyr233Ser) c.*120A>C (n.*120A>C) c.823A>C (p.Ile275Leu) c.653A>C (p.Tyr218Ser) c.776A>C (p.Tyr259Ser) c.*9A>C (n.*9A>C) c.*97A>C (n.*97A>C) c.749A>C (p.Tyr250Ser) c.*276A>C (n.*276A>C) n.316A>C c.219A>C c.474A>C (n.474A>C) | |
| 1 | g.150733117A= | CA2479286203 | CTSS | c.925T= (p.Tyr309=) c.697T= (p.Tyr233=) c.*119T= (n.*119T=) c.822T= (p.Asp274=) c.652T= (p.Tyr218=) c.775T= (p.Tyr259=) c.*8T= (n.*8T=) c.*96T= (n.*96T=) c.748T= (p.Tyr250=) c.*275T= (n.*275T=) n.315T= c.218T= c.473T= (n.473T=) | |
| 1 | g.150733117A>C | CA342322447 | CTSS | c.925T>G (p.Tyr309Asp) c.697T>G (p.Tyr233Asp) c.*119T>G (n.*119T>G) c.822T>G (p.Asp274Glu) c.652T>G (p.Tyr218Asp) c.775T>G (p.Tyr259Asp) c.*8T>G (n.*8T>G) c.*96T>G (n.*96T>G) c.748T>G (p.Tyr250Asp) c.*275T>G (n.*275T>G) n.315T>G c.218T>G c.473T>G (n.473T>G) | |
| 1 | g.150733117A>G | CA1080162 | CTSS | c.925T>C (p.Tyr309His) c.697T>C (p.Tyr233His) c.*119T>C (n.*119T>C) c.822T>C (p.Asp274=) c.652T>C (p.Tyr218His) c.775T>C (p.Tyr259His) c.*8T>C (n.*8T>C) c.*96T>C (n.*96T>C) c.748T>C (p.Tyr250His) c.*275T>C (n.*275T>C) n.315T>C c.218T>C c.473T>C (n.473T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150733117A>T | CA342322448 | CTSS | c.925T>A (p.Tyr309Asn) c.697T>A (p.Tyr233Asn) c.*119T>A (n.*119T>A) c.822T>A (p.Asp274Glu) c.652T>A (p.Tyr218Asn) c.775T>A (p.Tyr259Asn) c.*8T>A (n.*8T>A) c.*96T>A (n.*96T>A) c.748T>A (p.Tyr250Asn) c.*275T>A (n.*275T>A) n.315T>A c.218T>A c.473T>A (n.473T>A) | |
| 1 | g.150733118T>A | CA420696580 | CTSS | c.924A>T (p.Gly308=) c.696A>T (p.Gly232=) c.*118A>T (n.*118A>T) c.821A>T (p.Asp274Val) c.651A>T (p.Gly217=) c.774A>T (p.Gly258=) c.*7A>T (n.*7A>T) c.*95A>T (n.*95A>T) c.747A>T (p.Gly249=) c.*274A>T (n.*274A>T) n.314A>T c.217A>T c.472A>T (n.472A>T) | |
| 1 | g.150733118T>C | CA420696581 | CTSS | c.924A>G (p.Gly308=) c.696A>G (p.Gly232=) c.*118A>G (n.*118A>G) c.821A>G (p.Asp274Gly) c.651A>G (p.Gly217=) c.774A>G (p.Gly258=) c.*7A>G (n.*7A>G) c.*95A>G (n.*95A>G) c.747A>G (p.Gly249=) c.*274A>G (n.*274A>G) n.314A>G c.217A>G c.472A>G (n.472A>G) | |
| 1 | g.150733118T>G | CA420696582 | CTSS | c.924A>C (p.Gly308=) c.696A>C (p.Gly232=) c.*118A>C (n.*118A>C) c.821A>C (p.Asp274Ala) c.651A>C (p.Gly217=) c.774A>C (p.Gly258=) c.*7A>C (n.*7A>C) c.*95A>C (n.*95A>C) c.747A>C (p.Gly249=) c.*274A>C (n.*274A>C) n.314A>C c.217A>C c.472A>C (n.472A>C) | |
| 1 | g.150733119C>A | CA342322449 | CTSS | c.923G>T (p.Gly308Val) c.695G>T (p.Gly232Val) c.*117G>T (n.*117G>T) c.820G>T (p.Asp274Tyr) c.650G>T (p.Gly217Val) c.773G>T (p.Gly258Val) c.*6G>T (n.*6G>T) c.*94G>T (n.*94G>T) c.746G>T (p.Gly249Val) c.*273G>T (n.*273G>T) n.313G>T c.216G>T c.471G>T (n.471G>T) | |
| 1 | g.150733119C>G | CA342322451 | CTSS | c.923G>C (p.Gly308Ala) c.695G>C (p.Gly232Ala) c.*117G>C (n.*117G>C) c.820G>C (p.Asp274His) c.650G>C (p.Gly217Ala) c.773G>C (p.Gly258Ala) c.*6G>C (n.*6G>C) c.*94G>C (n.*94G>C) c.746G>C (p.Gly249Ala) c.*273G>C (n.*273G>C) n.313G>C c.216G>C c.471G>C (n.471G>C) | |
| 1 | g.150733119C>T | CA342322450 | CTSS | c.923G>A (p.Gly308Glu) c.695G>A (p.Gly232Glu) c.*117G>A (n.*117G>A) c.820G>A (p.Asp274Asn) c.650G>A (p.Gly217Glu) c.773G>A (p.Gly258Glu) c.*6G>A (n.*6G>A) c.*94G>A (n.*94G>A) c.746G>A (p.Gly249Glu) c.*273G>A (n.*273G>A) n.313G>A c.216G>A c.471G>A (n.471G>A) | |
| 1 | g.150733120C>A | CA342322452 | CTSS | c.922G>T (p.Gly308Ter) c.694G>T (p.Gly232Ter) c.*116G>T (n.*116G>T) c.819G>T (p.Lys273Asn) c.649G>T (p.Gly217Ter) c.772G>T (p.Gly258Ter) c.*5G>T (n.*5G>T) c.*93G>T (n.*93G>T) c.745G>T (p.Gly249Ter) c.*272G>T (n.*272G>T) n.312G>T c.215G>T c.470G>T (n.470G>T) | |
| 1 | g.150733120C>G | CA342322453 | CTSS | c.922G>C (p.Gly308Arg) c.694G>C (p.Gly232Arg) c.*116G>C (n.*116G>C) c.819G>C (p.Lys273Asn) c.649G>C (p.Gly217Arg) c.772G>C (p.Gly258Arg) c.*5G>C (n.*5G>C) c.*93G>C (n.*93G>C) c.745G>C (p.Gly249Arg) c.*272G>C (n.*272G>C) n.312G>C c.215G>C c.470G>C (n.470G>C) | |
| 1 | g.150733120C>T | CA342322454 | CTSS | c.922G>A (p.Gly308Arg) c.694G>A (p.Gly232Arg) c.*116G>A (n.*116G>A) c.819G>A (p.Lys273=) c.649G>A (p.Gly217Arg) c.772G>A (p.Gly258Arg) c.*5G>A (n.*5G>A) c.*93G>A (n.*93G>A) c.745G>A (p.Gly249Arg) c.*272G>A (n.*272G>A) n.312G>A c.215G>A c.470G>A (n.470G>A) | |
| 1 | g.150733121T>A | CA342322455 | CTSS | c.921A>T (p.Glu307Asp) c.693A>T (p.Glu231Asp) c.*115A>T (n.*115A>T) c.818A>T (p.Lys273Met) c.648A>T (p.Glu216Asp) c.771A>T (p.Glu257Asp) c.*4A>T (n.*4A>T) c.*92A>T (n.*92A>T) c.744A>T (p.Glu248Asp) c.*271A>T (n.*271A>T) n.311A>T c.214A>T c.469A>T (n.469A>T) | COSMIC |
| 1 | g.150733121T>C | CA420696583 | CTSS | c.921A>G (p.Glu307=) c.693A>G (p.Glu231=) c.*115A>G (n.*115A>G) c.818A>G (p.Lys273Arg) c.648A>G (p.Glu216=) c.771A>G (p.Glu257=) c.*4A>G (n.*4A>G) c.*92A>G (n.*92A>G) c.744A>G (p.Glu248=) c.*271A>G (n.*271A>G) n.311A>G c.214A>G c.469A>G (n.469A>G) | |
| 1 | g.150733121T>G | CA342322456 | CTSS | c.921A>C (p.Glu307Asp) c.693A>C (p.Glu231Asp) c.*115A>C (n.*115A>C) c.818A>C (p.Lys273Thr) c.648A>C (p.Glu216Asp) c.771A>C (p.Glu257Asp) c.*4A>C (n.*4A>C) c.*92A>C (n.*92A>C) c.744A>C (p.Glu248Asp) c.*271A>C (n.*271A>C) n.311A>C c.214A>C c.469A>C (n.469A>C) | |
| 1 | g.150733122T>A | CA342322457 | CTSS | c.920A>T (p.Glu307Val) c.692A>T (p.Glu231Val) c.*114A>T (n.*114A>T) c.817A>T (p.Lys273Ter) c.647A>T (p.Glu216Val) c.770A>T (p.Glu257Val) c.*3A>T (n.*3A>T) c.*91A>T (n.*91A>T) c.743A>T (p.Glu248Val) c.*270A>T (n.*270A>T) n.310A>T c.213A>T c.468A>T (n.468A>T) | |
| 1 | g.150733122T>C | CA342322458 | CTSS | c.920A>G (p.Glu307Gly) c.692A>G (p.Glu231Gly) c.*114A>G (n.*114A>G) c.817A>G (p.Lys273Glu) c.647A>G (p.Glu216Gly) c.770A>G (p.Glu257Gly) c.*3A>G (n.*3A>G) c.*91A>G (n.*91A>G) c.743A>G (p.Glu248Gly) c.*270A>G (n.*270A>G) n.310A>G c.213A>G c.468A>G (n.468A>G) | |
| 1 | g.150733122T>G | CA342322459 | CTSS | c.920A>C (p.Glu307Ala) c.692A>C (p.Glu231Ala) c.*114A>C (n.*114A>C) c.817A>C (p.Lys273Gln) c.647A>C (p.Glu216Ala) c.770A>C (p.Glu257Ala) c.*3A>C (n.*3A>C) c.*91A>C (n.*91A>C) c.743A>C (p.Glu248Ala) c.*270A>C (n.*270A>C) n.310A>C c.213A>C c.468A>C (n.468A>C) | |
| 1 | g.150733123C>A | CA342322460 | CTSS | c.919G>T (p.Glu307Ter) c.691G>T (p.Glu231Ter) c.*113G>T (n.*113G>T) c.816G>T (p.Lys272Asn) c.646G>T (p.Glu216Ter) c.769G>T (p.Glu257Ter) c.*2G>T (n.*2G>T) c.*90G>T (n.*90G>T) c.742G>T (p.Glu248Ter) c.*269G>T (n.*269G>T) n.309G>T c.212G>T c.467G>T (n.467G>T) | |
| 1 | g.150733123C>G | CA342322461 | CTSS | c.919G>C (p.Glu307Gln) c.691G>C (p.Glu231Gln) c.*113G>C (n.*113G>C) c.816G>C (p.Lys272Asn) c.646G>C (p.Glu216Gln) c.769G>C (p.Glu257Gln) c.*2G>C (n.*2G>C) c.*90G>C (n.*90G>C) c.742G>C (p.Glu248Gln) c.*269G>C (n.*269G>C) n.309G>C c.212G>C c.467G>C (n.467G>C) | COSMIC |
| 1 | g.150733123C>T | CA342322462 | CTSS | c.919G>A (p.Glu307Lys) c.691G>A (p.Glu231Lys) c.*113G>A (n.*113G>A) c.816G>A (p.Lys272=) c.646G>A (p.Glu216Lys) c.769G>A (p.Glu257Lys) c.*2G>A (n.*2G>A) c.*90G>A (n.*90G>A) c.742G>A (p.Glu248Lys) c.*269G>A (n.*269G>A) n.309G>A c.212G>A c.467G>A (n.467G>A) | |
| 1 | g.150733124T>A | CA342322463 | CTSS | c.918A>T (p.Glu306Asp) c.690A>T (p.Glu230Asp) c.*112A>T (n.*112A>T) c.815A>T (p.Lys272Met) c.645A>T (p.Glu215Asp) c.768A>T (p.Glu256Asp) c.*1A>T (n.*1A>T) c.*89A>T (n.*89A>T) c.741A>T (p.Glu247Asp) c.*268A>T (n.*268A>T) n.308A>T c.211A>T c.466A>T (n.466A>T) | |
| 1 | g.150733124T>C | CA420696584 | CTSS | c.918A>G (p.Glu306=) c.690A>G (p.Glu230=) c.*112A>G (n.*112A>G) c.815A>G (p.Lys272Arg) c.645A>G (p.Glu215=) c.768A>G (p.Glu256=) c.*1A>G (n.*1A>G) c.*89A>G (n.*89A>G) c.741A>G (p.Glu247=) c.*268A>G (n.*268A>G) n.308A>G c.211A>G c.466A>G (n.466A>G) | |
| 1 | g.150733124T>G | CA342322464 | CTSS | c.918A>C (p.Glu306Asp) c.690A>C (p.Glu230Asp) c.*112A>C (n.*112A>C) c.815A>C (p.Lys272Thr) c.645A>C (p.Glu215Asp) c.768A>C (p.Glu256Asp) c.*1A>C (n.*1A>C) c.*89A>C (n.*89A>C) c.741A>C (p.Glu247Asp) c.*268A>C (n.*268A>C) n.308A>C c.211A>C c.466A>C (n.466A>C) | |
| 1 | g.150733125T>A | CA342322465 | CTSS | c.917A>T (p.Glu306Val) c.689A>T (p.Glu230Val) c.*111A>T (n.*111A>T) c.814A>T (p.Lys272Ter) c.644A>T (p.Glu215Val) c.767A>T (p.Glu256Val) c.648A>T (p.Ter216Cys) c.*88A>T (n.*88A>T) c.740A>T (p.Glu247Val) c.*267A>T (n.*267A>T) n.307A>T c.210A>T c.465A>T (n.465A>T) | |
| 1 | g.150733125T>C | CA342322467 | CTSS | c.917A>G (p.Glu306Gly) c.689A>G (p.Glu230Gly) c.*111A>G (n.*111A>G) c.814A>G (p.Lys272Glu) c.644A>G (p.Glu215Gly) c.767A>G (p.Glu256Gly) c.648A>G (p.Ter216Trp) c.*88A>G (n.*88A>G) c.740A>G (p.Glu247Gly) c.*267A>G (n.*267A>G) n.307A>G c.210A>G c.465A>G (n.465A>G) | |
| 1 | g.150733125T>G | CA342322466 | CTSS | c.917A>C (p.Glu306Ala) c.689A>C (p.Glu230Ala) c.*111A>C (n.*111A>C) c.814A>C (p.Lys272Gln) c.644A>C (p.Glu215Ala) c.767A>C (p.Glu256Ala) c.648A>C (p.Ter216Cys) c.*88A>C (n.*88A>C) c.740A>C (p.Glu247Ala) c.*267A>C (n.*267A>C) n.307A>C c.210A>C c.465A>C (n.465A>C) | gnomAD v4 |
| 1 | g.150733126C>A | CA342322468 | CTSS | c.916G>T (p.Glu306Ter) c.688G>T (p.Glu230Ter) c.*110G>T (n.*110G>T) c.813G>T (p.Val271=) c.643G>T (p.Glu215Ter) c.766G>T (p.Glu256Ter) c.647G>T (p.Ter216Leu) c.*87G>T (n.*87G>T) c.739G>T (p.Glu247Ter) c.*266G>T (n.*266G>T) n.306G>T c.209G>T c.464G>T (n.464G>T) | |
| 1 | g.150733126C= | CA2479286204 | CTSS | c.916G= (p.Glu306=) c.688G= (p.Glu230=) c.*110G= (n.*110G=) c.813G= (p.Val271=) c.643G= (p.Glu215=) c.766G= (p.Glu256=) c.647G= (p.Ter216=) c.*87G= (n.*87G=) c.739G= (p.Glu247=) c.*266G= (n.*266G=) n.306G= c.209G= c.464G= (n.464G=) | |
| 1 | g.150733126C>G | CA342322469 | CTSS | c.916G>C (p.Glu306Gln) c.688G>C (p.Glu230Gln) c.*110G>C (n.*110G>C) c.813G>C (p.Val271=) c.643G>C (p.Glu215Gln) c.766G>C (p.Glu256Gln) c.647G>C (p.Ter216Ser) c.*87G>C (n.*87G>C) c.739G>C (p.Glu247Gln) c.*266G>C (n.*266G>C) n.306G>C c.209G>C c.464G>C (n.464G>C) |