| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2167873_2167885del | CA912971946 | TH | c.626_638del (p.Ile209ThrfsTer27) c.*315_*327del (n.*315_*327del) c.626_638del (p.Ile209ThrfsTer?) c.707_719del (p.Ile236ThrfsTer27) c.719_731del (p.Ile240ThrfsTer27) c.66_78del n.375_387del c.638_650del (p.Ile213ThrfsTer27) | |
| 11 | g.2167873_2167885delinsACTGGAAGGCGAT | CA1948007182 | TH | c.625_637delinsATCGCCTTCCAGT (p.Ile209=) c.*314_*326delinsATCGCCTTCCAGT (n.*314_*326delinsATCGCCTTCCAGT) c.706_718delinsATCGCCTTCCAGT (p.Ile236=) c.718_730delinsATCGCCTTCCAGT (p.Ile240=) c.65_77delinsATCGCCTTCCAGT n.374_386delinsATCGCCTTCCAGT c.637_649delinsATCGCCTTCCAGT (p.Ile213=) | |
| 11 | g.2167876_2167887del | CA658821338 | TH | c.625_636del (p.Ile209_Gln212del) c.*314_*325del (n.*314_*325del) c.706_717del (p.Ile236_Gln239del) c.718_729del (p.Ile240_Gln243del) c.65_76del n.374_385del c.637_648del (p.Ile213_Gln216del) | ClinVar dbSNP |
| 11 | g.2167879A>C | CA379127991 | TH | c.631T>G (p.Phe211Val) c.*320T>G (n.*320T>G) c.712T>G (p.Phe238Val) c.724T>G (p.Phe242Val) c.71T>G n.380T>G c.643T>G (p.Phe215Val) | |
| 11 | g.2167879A>G | CA379127993 | TH | c.631T>C (p.Phe211Leu) c.*320T>C (n.*320T>C) c.712T>C (p.Phe238Leu) c.724T>C (p.Phe242Leu) c.71T>C n.380T>C c.643T>C (p.Phe215Leu) | |
| 11 | g.2167879A>T | CA379127995 | TH | c.631T>A (p.Phe211Ile) c.*320T>A (n.*320T>A) c.712T>A (p.Phe238Ile) c.724T>A (p.Phe242Ile) c.71T>A n.380T>A c.643T>A (p.Phe215Ile) | |
| 11 | g.2167880G>A | CA472035130 | TH | c.630C>T (p.Ala210=) c.*319C>T (n.*319C>T) c.711C>T (p.Ala237=) c.723C>T (p.Ala241=) c.70C>T n.379C>T c.642C>T (p.Ala214=) | ClinVar dbSNP |
| 11 | g.2167880G>C | CA472035131 | TH | c.630C>G (p.Ala210=) c.*319C>G (n.*319C>G) c.711C>G (p.Ala237=) c.723C>G (p.Ala241=) c.70C>G n.379C>G c.642C>G (p.Ala214=) | |
| 11 | g.2167880G>T | CA472035132 | TH | c.630C>A (p.Ala210=) c.*319C>A (n.*319C>A) c.711C>A (p.Ala237=) c.723C>A (p.Ala241=) c.70C>A n.379C>A c.642C>A (p.Ala214=) | |
| 11 | g.2167881G>A | CA216286488 | TH | c.629C>T (p.Ala210Val) c.*318C>T (n.*318C>T) c.710C>T (p.Ala237Val) c.722C>T (p.Ala241Val) c.69C>T n.378C>T c.641C>T (p.Ala214Val) | dbSNP gnomAD v4 |
| 11 | g.2167881G>C | CA379127998 | TH | c.629C>G (p.Ala210Gly) c.*318C>G (n.*318C>G) c.710C>G (p.Ala237Gly) c.722C>G (p.Ala241Gly) c.69C>G n.378C>G c.641C>G (p.Ala214Gly) | |
| 11 | g.2167881G= | CA1948007203 | TH | c.629C= (p.Ala210=) c.*318C= (n.*318C=) c.710C= (p.Ala237=) c.722C= (p.Ala241=) c.69C= n.378C= c.641C= (p.Ala214=) | |
| 11 | g.2167881G>T | CA379128000 | TH | c.629C>A (p.Ala210Asp) c.*318C>A (n.*318C>A) c.710C>A (p.Ala237Asp) c.722C>A (p.Ala241Asp) c.69C>A n.378C>A c.641C>A (p.Ala214Asp) | |
| 11 | g.2167882C>A | CA379128007 | TH | c.628G>T (p.Ala210Ser) c.*317G>T (n.*317G>T) c.709G>T (p.Ala237Ser) c.721G>T (p.Ala241Ser) c.68G>T n.377G>T c.640G>T (p.Ala214Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167882C= | CA1948007210 | TH | c.628G= (p.Ala210=) c.*317G= (n.*317G=) c.709G= (p.Ala237=) c.721G= (p.Ala241=) c.68G= n.377G= c.640G= (p.Ala214=) | |
| 11 | g.2167882C>G | CA379128006 | TH | c.628G>C (p.Ala210Pro) c.*317G>C (n.*317G>C) c.709G>C (p.Ala237Pro) c.721G>C (p.Ala241Pro) c.68G>C n.377G>C c.640G>C (p.Ala214Pro) | |
| 11 | g.2167882C>T | CA379128003 | TH | c.628G>A (p.Ala210Thr) c.*317G>A (n.*317G>A) c.709G>A (p.Ala237Thr) c.721G>A (p.Ala241Thr) c.68G>A n.377G>A c.640G>A (p.Ala214Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.2167883G>A | CA5818575 | TH | c.627C>T (p.Ile209=) c.*316C>T (n.*316C>T) c.708C>T (p.Ile236=) c.720C>T (p.Ile240=) c.67C>T n.376C>T c.639C>T (p.Ile213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167883G>C | CA5818574 | TH | c.627C>G (p.Ile209Met) c.*316C>G (n.*316C>G) c.708C>G (p.Ile236Met) c.720C>G (p.Ile240Met) c.67C>G n.376C>G c.639C>G (p.Ile213Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167883G= | CA1948007215 | TH | c.627C= (p.Ile209=) c.*316C= (n.*316C=) c.708C= (p.Ile236=) c.720C= (p.Ile240=) c.67C= n.376C= c.639C= (p.Ile213=) | |
| 11 | g.2167883G>T | CA472035136 | TH | c.627C>A (p.Ile209=) c.*316C>A (n.*316C>A) c.708C>A (p.Ile236=) c.720C>A (p.Ile240=) c.67C>A n.376C>A c.639C>A (p.Ile213=) | gnomAD v4 |
| 11 | g.2167884A= | CA1948007218 | TH | c.626T= (p.Ile209=) c.*315T= (n.*315T=) c.707T= (p.Ile236=) c.719T= (p.Ile240=) c.66T= n.375T= c.638T= (p.Ile213=) | |
| 11 | g.2167884A>C | CA379128013 | TH | c.626T>G (p.Ile209Ser) c.*315T>G (n.*315T>G) c.707T>G (p.Ile236Ser) c.719T>G (p.Ile240Ser) c.66T>G n.375T>G c.638T>G (p.Ile213Ser) | |
| 11 | g.2167884A>G | CA379128015 | TH | c.626T>C (p.Ile209Thr) c.*315T>C (n.*315T>C) c.707T>C (p.Ile236Thr) c.719T>C (p.Ile240Thr) c.66T>C n.375T>C c.638T>C (p.Ile213Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2167884A>T | CA379128017 | TH | c.626T>A (p.Ile209Asn) c.*315T>A (n.*315T>A) c.707T>A (p.Ile236Asn) c.719T>A (p.Ile240Asn) c.66T>A n.375T>A c.638T>A (p.Ile213Asn) | |
| 11 | g.2167885T>A | CA379128019 | TH | c.625A>T (p.Ile209Phe) c.*314A>T (n.*314A>T) c.706A>T (p.Ile236Phe) c.718A>T (p.Ile240Phe) c.65A>T n.374A>T c.637A>T (p.Ile213Phe) | |
| 11 | g.2167885T>C | CA379128022 | TH | c.625A>G (p.Ile209Val) c.*314A>G (n.*314A>G) c.706A>G (p.Ile236Val) c.718A>G (p.Ile240Val) c.65A>G n.374A>G c.637A>G (p.Ile213Val) | |
| 11 | g.2167885T>G | CA379128023 | TH | c.625A>C (p.Ile209Leu) c.*314A>C (n.*314A>C) c.706A>C (p.Ile236Leu) c.718A>C (p.Ile240Leu) c.65A>C n.374A>C c.637A>C (p.Ile213Leu) | |
| 11 | g.2167886C>A | CA379128025 | TH | c.624G>T (p.Glu208Asp) c.*313G>T (n.*313G>T) c.705G>T (p.Glu235Asp) c.717G>T (p.Glu239Asp) c.64G>T n.373G>T c.636G>T (p.Glu212Asp) | |
| 11 | g.2167886C= | CA1948007222 | TH | c.624G= (p.Glu208=) c.*313G= (n.*313G=) c.705G= (p.Glu235=) c.717G= (p.Glu239=) c.64G= n.373G= c.636G= (p.Glu212=) | |
| 11 | g.2167886C>G | CA5818576 | TH | c.624G>C (p.Glu208Asp) c.*313G>C (n.*313G>C) c.705G>C (p.Glu235Asp) c.717G>C (p.Glu239Asp) c.64G>C n.373G>C c.636G>C (p.Glu212Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167886C>T | CA472035140 | TH | c.624G>A (p.Glu208=) c.*313G>A (n.*313G>A) c.705G>A (p.Glu235=) c.717G>A (p.Glu239=) c.64G>A n.373G>A c.636G>A (p.Glu212=) | dbSNP gnomAD v2 |
| 11 | g.2167887T>A | CA379128029 | TH | c.623A>T (p.Glu208Val) c.*312A>T (n.*312A>T) c.704A>T (p.Glu235Val) c.716A>T (p.Glu239Val) c.63A>T n.372A>T c.635A>T (p.Glu212Val) | |
| 11 | g.2167887T>C | CA5818577 | TH | c.623A>G (p.Glu208Gly) c.*312A>G (n.*312A>G) c.704A>G (p.Glu235Gly) c.716A>G (p.Glu239Gly) c.63A>G n.372A>G c.635A>G (p.Glu212Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167887T>G | CA379128032 | TH | c.623A>C (p.Glu208Ala) c.*312A>C (n.*312A>C) c.704A>C (p.Glu235Ala) c.716A>C (p.Glu239Ala) c.63A>C n.372A>C c.635A>C (p.Glu212Ala) | |
| 11 | g.2167887T= | CA1948007225 | TH | c.623A= (p.Glu208=) c.*312A= (n.*312A=) c.704A= (p.Glu235=) c.716A= (p.Glu239=) c.63A= n.372A= c.635A= (p.Glu212=) | |
| 11 | g.2167888C>A | CA379128037 | TH | c.622G>T (p.Glu208Ter) c.*311G>T (n.*311G>T) c.703G>T (p.Glu235Ter) c.715G>T (p.Glu239Ter) c.62G>T n.371G>T c.634G>T (p.Glu212Ter) | |
| 11 | g.2167888C>G | CA379128039 | TH | c.622G>C (p.Glu208Gln) c.*311G>C (n.*311G>C) c.703G>C (p.Glu235Gln) c.715G>C (p.Glu239Gln) c.62G>C n.371G>C c.634G>C (p.Glu212Gln) | gnomAD v4 |
| 11 | g.2167888C>T | CA379128035 | TH | c.622G>A (p.Glu208Lys) c.*311G>A (n.*311G>A) c.703G>A (p.Glu235Lys) c.715G>A (p.Glu239Lys) c.62G>A n.371G>A c.634G>A (p.Glu212Lys) | |
| 11 | g.2167889A= | CA1948007226 | TH | c.621T= (p.Ala207=) c.*310T= (n.*310T=) c.702T= (p.Ala234=) c.714T= (p.Ala238=) c.61T= n.370T= c.633T= (p.Ala211=) | |
| 11 | g.2167889A>C | CA472035143 | TH | c.621T>G (p.Ala207=) c.*310T>G (n.*310T>G) c.702T>G (p.Ala234=) c.714T>G (p.Ala238=) c.61T>G n.370T>G c.633T>G (p.Ala211=) | |
| 11 | g.2167889A>G | CA216286511 | TH | c.621T>C (p.Ala207=) c.*310T>C (n.*310T>C) c.702T>C (p.Ala234=) c.714T>C (p.Ala238=) c.61T>C n.370T>C c.633T>C (p.Ala211=) | dbSNP gnomAD v4 |
| 11 | g.2167889A>T | CA472035144 | TH | c.621T>A (p.Ala207=) c.*310T>A (n.*310T>A) c.702T>A (p.Ala234=) c.714T>A (p.Ala238=) c.61T>A n.370T>A c.633T>A (p.Ala211=) | |
| 11 | g.2167890G>A | CA379128042 | TH | c.620C>T (p.Ala207Val) c.*309C>T (n.*309C>T) c.701C>T (p.Ala234Val) c.713C>T (p.Ala238Val) c.60C>T n.369C>T c.632C>T (p.Ala211Val) | |
| 11 | g.2167890G>C | CA379128043 | TH | c.620C>G (p.Ala207Gly) c.*309C>G (n.*309C>G) c.701C>G (p.Ala234Gly) c.713C>G (p.Ala238Gly) c.60C>G n.369C>G c.632C>G (p.Ala211Gly) | |
| 11 | g.2167890G>T | CA379128045 | TH | c.620C>A (p.Ala207Asp) c.*309C>A (n.*309C>A) c.701C>A (p.Ala234Asp) c.713C>A (p.Ala238Asp) c.60C>A n.369C>A c.632C>A (p.Ala211Asp) | |
| 11 | g.2167891C>A | CA379128046 | TH | c.619G>T (p.Ala207Ser) c.*308G>T (n.*308G>T) c.700G>T (p.Ala234Ser) c.712G>T (p.Ala238Ser) c.59G>T n.368G>T c.631G>T (p.Ala211Ser) | |
| 11 | g.2167891C>G | CA379128048 | TH | c.619G>C (p.Ala207Pro) c.*308G>C (n.*308G>C) c.700G>C (p.Ala234Pro) c.712G>C (p.Ala238Pro) c.59G>C n.368G>C c.631G>C (p.Ala211Pro) | gnomAD v4 |
| 11 | g.2167891C>T | CA379128050 | TH | c.619G>A (p.Ala207Thr) c.*308G>A (n.*308G>A) c.700G>A (p.Ala234Thr) c.712G>A (p.Ala238Thr) c.59G>A n.368G>A c.631G>A (p.Ala211Thr) | |
| 11 | g.2167892A>C | CA379128052 | TH | c.618T>G (p.Ile206Met) c.*307T>G (n.*307T>G) c.699T>G (p.Ile233Met) c.711T>G (p.Ile237Met) c.58T>G n.367T>G c.630T>G (p.Ile210Met) | |
| 11 | g.2167892A>G | CA472035145 | TH | c.618T>C (p.Ile206=) c.*307T>C (n.*307T>C) c.699T>C (p.Ile233=) c.711T>C (p.Ile237=) c.58T>C n.367T>C c.630T>C (p.Ile210=) | |
| 11 | g.2167892A>T | CA472035146 | TH | c.618T>A (p.Ile206=) c.*307T>A (n.*307T>A) c.699T>A (p.Ile233=) c.711T>A (p.Ile237=) c.58T>A n.367T>A c.630T>A (p.Ile210=) | |
| 11 | g.2167893A>C | CA379128056 | TH | c.617T>G (p.Ile206Ser) c.*306T>G (n.*306T>G) c.698T>G (p.Ile233Ser) c.710T>G (p.Ile237Ser) c.57T>G n.366T>G c.629T>G (p.Ile210Ser) | |
| 11 | g.2167893A>G | CA379128057 | TH | c.617T>C (p.Ile206Thr) c.*306T>C (n.*306T>C) c.698T>C (p.Ile233Thr) c.710T>C (p.Ile237Thr) c.57T>C n.366T>C c.629T>C (p.Ile210Thr) | ClinVar |
| 11 | g.2167893A>T | CA379128058 | TH | c.617T>A (p.Ile206Asn) c.*306T>A (n.*306T>A) c.698T>A (p.Ile233Asn) c.710T>A (p.Ile237Asn) c.57T>A n.366T>A c.629T>A (p.Ile210Asn) | |
| 11 | g.2167894T>A | CA379128059 | TH | c.616A>T (p.Ile206Phe) c.*305A>T (n.*305A>T) c.697A>T (p.Ile233Phe) c.709A>T (p.Ile237Phe) c.56A>T n.365A>T c.628A>T (p.Ile210Phe) | |
| 11 | g.2167894T>C | CA379128061 | TH | c.616A>G (p.Ile206Val) c.*305A>G (n.*305A>G) c.697A>G (p.Ile233Val) c.709A>G (p.Ile237Val) c.56A>G n.365A>G c.628A>G (p.Ile210Val) | |
| 11 | g.2167894T>G | CA379128063 | TH | c.616A>C (p.Ile206Leu) c.*305A>C (n.*305A>C) c.697A>C (p.Ile233Leu) c.709A>C (p.Ile237Leu) c.56A>C n.365A>C c.628A>C (p.Ile210Leu) | |
| 11 | g.2167895C>A | CA472035148 | TH | c.615G>T (p.Leu205=) c.*304G>T (n.*304G>T) c.696G>T (p.Leu232=) c.708G>T (p.Leu236=) c.55G>T n.364G>T c.627G>T (p.Leu209=) | |
| 11 | g.2167895C>G | CA472035150 | TH | c.615G>C (p.Leu205=) c.*304G>C (n.*304G>C) c.696G>C (p.Leu232=) c.708G>C (p.Leu236=) c.55G>C n.364G>C c.627G>C (p.Leu209=) | |
| 11 | g.2167895C>T | CA472035149 | TH | c.615G>A (p.Leu205=) c.*304G>A (n.*304G>A) c.696G>A (p.Leu232=) c.708G>A (p.Leu236=) c.55G>A n.364G>A c.627G>A (p.Leu209=) | |
| 11 | g.2167896A= | CA1948007231 | TH | c.614T= (p.Leu205=) c.*303T= (n.*303T=) c.695T= (p.Leu232=) c.707T= (p.Leu236=) c.54T= n.363T= c.626T= (p.Leu209=) | |
| 11 | g.2167896A>C | CA379128069 | TH | c.614T>G (p.Leu205Arg) c.*303T>G (n.*303T>G) c.695T>G (p.Leu232Arg) c.707T>G (p.Leu236Arg) c.54T>G n.363T>G c.626T>G (p.Leu209Arg) | |
| 11 | g.2167896A>G | CA341191 | TH | c.614T>C (p.Leu205Pro) c.*303T>C (n.*303T>C) c.695T>C (p.Leu232Pro) c.707T>C (p.Leu236Pro) c.54T>C n.363T>C c.626T>C (p.Leu209Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167896A>T | CA379128067 | TH | c.614T>A (p.Leu205Gln) c.*303T>A (n.*303T>A) c.695T>A (p.Leu232Gln) c.707T>A (p.Leu236Gln) c.54T>A n.363T>A c.626T>A (p.Leu209Gln) | |
| 11 | g.2167897G>A | CA472035152 | TH | c.613C>T (p.Leu205=) c.*302C>T (n.*302C>T) c.694C>T (p.Leu232=) c.706C>T (p.Leu236=) c.53C>T n.362C>T c.625C>T (p.Leu209=) | ClinVar dbSNP |
| 11 | g.2167897G>C | CA379128071 | TH | c.613C>G (p.Leu205Val) c.*302C>G (n.*302C>G) c.694C>G (p.Leu232Val) c.706C>G (p.Leu236Val) c.53C>G n.362C>G c.625C>G (p.Leu209Val) | |
| 11 | g.2167897G= | CA1948007232 | TH | c.613C= (p.Leu205=) c.*302C= (n.*302C=) c.694C= (p.Leu232=) c.706C= (p.Leu236=) c.53C= n.362C= c.625C= (p.Leu209=) | |
| 11 | g.2167897G>T | CA379128073 | TH | c.613C>A (p.Leu205Met) c.*302C>A (n.*302C>A) c.694C>A (p.Leu232Met) c.706C>A (p.Leu236Met) c.53C>A n.362C>A c.625C>A (p.Leu209Met) | gnomAD v4 |
| 11 | g.2167898C>A | CA379128076 | TH | c.612G>T (p.Lys204Asn) c.*301G>T (n.*301G>T) c.693G>T (p.Lys231Asn) c.705G>T (p.Lys235Asn) c.52G>T n.361G>T c.624G>T (p.Lys208Asn) | gnomAD v4 |
| 11 | g.2167898C>G | CA379128077 | TH | c.612G>C (p.Lys204Asn) c.*301G>C (n.*301G>C) c.693G>C (p.Lys231Asn) c.705G>C (p.Lys235Asn) c.52G>C n.361G>C c.624G>C (p.Lys208Asn) | gnomAD v4 COSMIC |
| 11 | g.2167898C>T | CA472035154 | TH | c.612G>A (p.Lys204=) c.*301G>A (n.*301G>A) c.693G>A (p.Lys231=) c.705G>A (p.Lys235=) c.52G>A n.361G>A c.624G>A (p.Lys208=) | |
| 11 | g.2167899T>A | CA379128080 | TH | c.611A>T (p.Lys204Met) c.*300A>T (n.*300A>T) c.692A>T (p.Lys231Met) c.704A>T (p.Lys235Met) c.51A>T n.360A>T c.623A>T (p.Lys208Met) | |
| 11 | g.2167899T>C | CA5818578 | TH | c.611A>G (p.Lys204Arg) c.*300A>G (n.*300A>G) c.692A>G (p.Lys231Arg) c.704A>G (p.Lys235Arg) c.51A>G n.360A>G c.623A>G (p.Lys208Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167899T>G | CA379128082 | TH | c.611A>C (p.Lys204Thr) c.*300A>C (n.*300A>C) c.692A>C (p.Lys231Thr) c.704A>C (p.Lys235Thr) c.51A>C n.360A>C c.623A>C (p.Lys208Thr) | |
| 11 | g.2167899T= | CA1948007233 | TH | c.611A= (p.Lys204=) c.*300A= (n.*300A=) c.692A= (p.Lys231=) c.704A= (p.Lys235=) c.51A= n.360A= c.623A= (p.Lys208=) | |
| 11 | g.2167900T>A | CA379128085 | TH | c.610A>T (p.Lys204Ter) c.*299A>T (n.*299A>T) c.691A>T (p.Lys231Ter) c.703A>T (p.Lys235Ter) c.50A>T n.359A>T c.622A>T (p.Lys208Ter) | |
| 11 | g.2167900T>C | CA379128089 | TH | c.610A>G (p.Lys204Glu) c.*299A>G (n.*299A>G) c.691A>G (p.Lys231Glu) c.703A>G (p.Lys235Glu) c.50A>G n.359A>G c.622A>G (p.Lys208Glu) | |
| 11 | g.2167900T>G | CA379128086 | TH | c.610A>C (p.Lys204Gln) c.*299A>C (n.*299A>C) c.691A>C (p.Lys231Gln) c.703A>C (p.Lys235Gln) c.50A>C n.359A>C c.622A>C (p.Lys208Gln) | gnomAD v4 |
| 11 | g.2167901C>A | CA379128092 | TH | c.609G>T (p.Arg203Ser) c.*298G>T (n.*298G>T) c.690G>T (p.Arg230Ser) c.702G>T (p.Arg234Ser) c.49G>T n.358G>T c.621G>T (p.Arg207Ser) | |
| 11 | g.2167901C= | CA1948007235 | TH | c.609G= (p.Arg203=) c.*298G= (n.*298G=) c.690G= (p.Arg230=) c.702G= (p.Arg234=) c.49G= n.358G= c.621G= (p.Arg207=) | |
| 11 | g.2167901C>G | CA379128093 | TH | c.609G>C (p.Arg203Ser) c.*298G>C (n.*298G>C) c.690G>C (p.Arg230Ser) c.702G>C (p.Arg234Ser) c.49G>C n.358G>C c.621G>C (p.Arg207Ser) | |
| 11 | g.2167901C>T | CA472035157 | TH | c.609G>A (p.Arg203=) c.*298G>A (n.*298G>A) c.690G>A (p.Arg230=) c.702G>A (p.Arg234=) c.49G>A n.358G>A c.621G>A (p.Arg207=) | ClinVar dbSNP gnomAD v2 |
| 11 | g.2167902C>A | CA379128096 | TH | c.608G>T (p.Arg203Met) c.*297G>T (n.*297G>T) c.689G>T (p.Arg230Met) c.701G>T (p.Arg234Met) c.48G>T n.357G>T c.620G>T (p.Arg207Met) | |
| 11 | g.2167902C= | CA1948007236 | TH | c.608G= (p.Arg203=) c.*297G= (n.*297G=) c.689G= (p.Arg230=) c.701G= (p.Arg234=) c.48G= n.357G= c.620G= (p.Arg207=) | |
| 11 | g.2167902C>G | CA379128098 | TH | c.608G>C (p.Arg203Thr) c.*297G>C (n.*297G>C) c.689G>C (p.Arg230Thr) c.701G>C (p.Arg234Thr) c.48G>C n.357G>C c.620G>C (p.Arg207Thr) | |
| 11 | g.2167902C>T | CA216286513 | TH | c.608G>A (p.Arg203Lys) c.*297G>A (n.*297G>A) c.689G>A (p.Arg230Lys) c.701G>A (p.Arg234Lys) c.48G>A n.357G>A c.620G>A (p.Arg207Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167903T>A | CA379128100 | TH | c.607A>T (p.Arg203Trp) c.*296A>T (n.*296A>T) c.688A>T (p.Arg230Trp) c.700A>T (p.Arg234Trp) c.47A>T n.356A>T c.619A>T (p.Arg207Trp) | |
| 11 | g.2167903T>C | CA379128102 | TH | c.607A>G (p.Arg203Gly) c.*296A>G (n.*296A>G) c.688A>G (p.Arg230Gly) c.700A>G (p.Arg234Gly) c.47A>G n.356A>G c.619A>G (p.Arg207Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2167903T>G | CA472035159 | TH | c.607A>C (p.Arg203=) c.*296A>C (n.*296A>C) c.688A>C (p.Arg230=) c.700A>C (p.Arg234=) c.47A>C n.356A>C c.619A>C (p.Arg207=) | |
| 11 | g.2167903T= | CA1948007237 | TH | c.607A= (p.Arg203=) c.*296A= (n.*296A=) c.688A= (p.Arg230=) c.700A= (p.Arg234=) c.47A= n.356A= c.619A= (p.Arg207=) | |
| 11 | g.2167904G>A | CA472035160 | TH | c.606C>T (p.Arg202=) c.*295C>T (n.*295C>T) c.687C>T (p.Arg229=) c.699C>T (p.Arg233=) c.46C>T n.355C>T c.618C>T (p.Arg206=) | |
| 11 | g.2167904G>C | CA472035161 | TH | c.606C>G (p.Arg202=) c.*295C>G (n.*295C>G) c.687C>G (p.Arg229=) c.699C>G (p.Arg233=) c.46C>G n.355C>G c.618C>G (p.Arg206=) | gnomAD v4 |
| 11 | g.2167904G>T | CA472035162 | TH | c.606C>A (p.Arg202=) c.*295C>A (n.*295C>A) c.687C>A (p.Arg229=) c.699C>A (p.Arg233=) c.46C>A n.355C>A c.618C>A (p.Arg206=) | |
| 11 | g.2167905C>A | CA379128106 | TH | c.605G>T (p.Arg202Leu) c.*294G>T (n.*294G>T) c.686G>T (p.Arg229Leu) c.698G>T (p.Arg233Leu) c.45G>T n.354G>T c.617G>T (p.Arg206Leu) | |
| 11 | g.2167905C= | CA1948007238 | TH | c.605G= (p.Arg202=) c.*294G= (n.*294G=) c.686G= (p.Arg229=) c.698G= (p.Arg233=) c.45G= n.354G= c.617G= (p.Arg206=) | |
| 11 | g.2167905C>G | CA379128109 | TH | c.605G>C (p.Arg202Pro) c.*294G>C (n.*294G>C) c.686G>C (p.Arg229Pro) c.698G>C (p.Arg233Pro) c.45G>C n.354G>C c.617G>C (p.Arg206Pro) | dbSNP gnomAD v4 |
| 11 | g.2167905C>T | CA341192 | TH | c.605G>A (p.Arg202His) c.*294G>A (n.*294G>A) c.686G>A (p.Arg229His) c.698G>A (p.Arg233His) c.45G>A n.354G>A c.617G>A (p.Arg206His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167906G>A | CA379128112 | TH | c.604C>T (p.Arg202Cys) c.*293C>T (n.*293C>T) c.685C>T (p.Arg229Cys) c.697C>T (p.Arg233Cys) c.44C>T n.353C>T c.616C>T (p.Arg206Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2167906G>C | CA216286519 | TH | c.604C>G (p.Arg202Gly) c.*293C>G (n.*293C>G) c.685C>G (p.Arg229Gly) c.697C>G (p.Arg233Gly) c.44C>G n.353C>G c.616C>G (p.Arg206Gly) | dbSNP gnomAD v4 |
| 11 | g.2167906G= | CA1948007240 | TH | c.604C= (p.Arg202=) c.*293C= (n.*293C=) c.685C= (p.Arg229=) c.697C= (p.Arg233=) c.44C= n.353C= c.616C= (p.Arg206=) | |
| 11 | g.2167906G>T | CA379128115 | TH | c.604C>A (p.Arg202Ser) c.*293C>A (n.*293C>A) c.685C>A (p.Arg229Ser) c.697C>A (p.Arg233Ser) c.44C>A n.353C>A c.616C>A (p.Arg206Ser) | |
| 11 | g.2167907C>A | CA379128116 | TH | c.603G>T (p.Gln201His) c.*292G>T (n.*292G>T) c.684G>T (p.Gln228His) c.696G>T (p.Gln232His) c.43G>T n.352G>T c.615G>T (p.Gln205His) | |
| 11 | g.2167907C>G | CA379128118 | TH | c.603G>C (p.Gln201His) c.*292G>C (n.*292G>C) c.684G>C (p.Gln228His) c.696G>C (p.Gln232His) c.43G>C n.352G>C c.615G>C (p.Gln205His) | |
| 11 | g.2167907C>T | CA472035165 | TH | c.603G>A (p.Gln201=) c.*292G>A (n.*292G>A) c.684G>A (p.Gln228=) c.696G>A (p.Gln232=) c.43G>A n.352G>A c.615G>A (p.Gln205=) | gnomAD v4 |
| 11 | g.2167908T>A | CA379128122 | TH | c.602A>T (p.Gln201Leu) c.*291A>T (n.*291A>T) c.683A>T (p.Gln228Leu) c.695A>T (p.Gln232Leu) c.42A>T n.351A>T c.614A>T (p.Gln205Leu) | |
| 11 | g.2167908T>C | CA379128124 | TH | c.602A>G (p.Gln201Arg) c.*291A>G (n.*291A>G) c.683A>G (p.Gln228Arg) c.695A>G (p.Gln232Arg) c.42A>G n.351A>G c.614A>G (p.Gln205Arg) | |
| 11 | g.2167908T>G | CA379128127 | TH | c.602A>C (p.Gln201Pro) c.*291A>C (n.*291A>C) c.683A>C (p.Gln228Pro) c.695A>C (p.Gln232Pro) c.42A>C n.351A>C c.614A>C (p.Gln205Pro) | |
| 11 | g.2167909G>A | CA16041465 | TH | c.601C>T (p.Gln201Ter) c.*290C>T (n.*290C>T) c.682C>T (p.Gln228Ter) c.694C>T (p.Gln232Ter) c.41C>T n.350C>T c.613C>T (p.Gln205Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167909G>C | CA379128134 | TH | c.601C>G (p.Gln201Glu) c.*290C>G (n.*290C>G) c.682C>G (p.Gln228Glu) c.694C>G (p.Gln232Glu) c.41C>G n.350C>G c.613C>G (p.Gln205Glu) | |
| 11 | g.2167909G= | CA1948007241 | TH | c.601C= (p.Gln201=) c.*290C= (n.*290C=) c.682C= (p.Gln228=) c.694C= (p.Gln232=) c.41C= n.350C= c.613C= (p.Gln205=) | |
| 11 | g.2167909G>T | CA379128131 | TH | c.601C>A (p.Gln201Lys) c.*290C>A (n.*290C>A) c.682C>A (p.Gln228Lys) c.694C>A (p.Gln232Lys) c.41C>A n.350C>A c.613C>A (p.Gln205Lys) | |
| 11 | g.2167910G>A | CA5818579 | TH | c.600C>T (p.Arg200=) c.*289C>T (n.*289C>T) c.681C>T (p.Arg227=) c.693C>T (p.Arg231=) c.40C>T n.349C>T c.612C>T (p.Arg204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167910G>C | CA472035166 | TH | c.600C>G (p.Arg200=) c.*289C>G (n.*289C>G) c.681C>G (p.Arg227=) c.693C>G (p.Arg231=) c.40C>G n.349C>G c.612C>G (p.Arg204=) | |
| 11 | g.2167910G= | CA1948007244 | TH | c.600C= (p.Arg200=) c.*289C= (n.*289C=) c.681C= (p.Arg227=) c.693C= (p.Arg231=) c.40C= n.349C= c.612C= (p.Arg204=) | |
| 11 | g.2167910G>T | CA472035167 | TH | c.600C>A (p.Arg200=) c.*289C>A (n.*289C>A) c.681C>A (p.Arg227=) c.693C>A (p.Arg231=) c.40C>A n.349C>A c.612C>A (p.Arg204=) | |
| 11 | g.2167911C>A | CA379128138 | TH | c.599G>T (p.Arg200Leu) c.*288G>T (n.*288G>T) c.680G>T (p.Arg227Leu) c.692G>T (p.Arg231Leu) c.39G>T n.348G>T c.611G>T (p.Arg204Leu) | gnomAD v4 |
| 11 | g.2167911C= | CA1948007245 | TH | c.599G= (p.Arg200=) c.*288G= (n.*288G=) c.680G= (p.Arg227=) c.692G= (p.Arg231=) c.39G= n.348G= c.611G= (p.Arg204=) | |
| 11 | g.2167911C>G | CA379128140 | TH | c.599G>C (p.Arg200Pro) c.*288G>C (n.*288G>C) c.680G>C (p.Arg227Pro) c.692G>C (p.Arg231Pro) c.39G>C n.348G>C c.611G>C (p.Arg204Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2167911C>T | CA5818580 | TH | c.599G>A (p.Arg200His) c.*288G>A (n.*288G>A) c.680G>A (p.Arg227His) c.692G>A (p.Arg231His) c.39G>A n.348G>A c.611G>A (p.Arg204His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167912G>A | CA379128148 | TH | c.598C>T (p.Arg200Cys) c.*287C>T (n.*287C>T) c.679C>T (p.Arg227Cys) c.691C>T (p.Arg231Cys) c.38C>T n.347C>T c.610C>T (p.Arg204Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167912G>C | CA379128144 | TH | c.598C>G (p.Arg200Gly) c.*287C>G (n.*287C>G) c.679C>G (p.Arg227Gly) c.691C>G (p.Arg231Gly) c.38C>G n.347C>G c.610C>G (p.Arg204Gly) | |
| 11 | g.2167912G= | CA1948007247 | TH | c.598C= (p.Arg200=) c.*287C= (n.*287C=) c.679C= (p.Arg227=) c.691C= (p.Arg231=) c.38C= n.347C= c.610C= (p.Arg204=) | |
| 11 | g.2167912G>T | CA379128146 | TH | c.598C>A (p.Arg200Ser) c.*287C>A (n.*287C>A) c.679C>A (p.Arg227Ser) c.691C>A (p.Arg231Ser) c.38C>A n.347C>A c.610C>A (p.Arg204Ser) | |
| 11 | g.2167913G>A | CA472035168 | TH | c.597C>T (p.Tyr199=) c.*286C>T (n.*286C>T) c.678C>T (p.Tyr226=) c.690C>T (p.Tyr230=) c.37C>T n.346C>T c.609C>T (p.Tyr203=) | ClinVar gnomAD v4 |
| 11 | g.2167913G>C | CA379128150 | TH | c.597C>G (p.Tyr199Ter) c.*286C>G (n.*286C>G) c.678C>G (p.Tyr226Ter) c.690C>G (p.Tyr230Ter) c.37C>G n.346C>G c.609C>G (p.Tyr203Ter) | |
| 11 | g.2167913G= | CA1948007249 | TH | c.597C= (p.Tyr199=) c.*286C= (n.*286C=) c.678C= (p.Tyr226=) c.690C= (p.Tyr230=) c.37C= n.346C= c.609C= (p.Tyr203=) | |
| 11 | g.2167913G>T | CA379128153 | TH | c.597C>A (p.Tyr199Ter) c.*286C>A (n.*286C>A) c.678C>A (p.Tyr226Ter) c.690C>A (p.Tyr230Ter) c.37C>A n.346C>A c.609C>A (p.Tyr203Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167914T>A | CA379128156 | TH | c.596A>T (p.Tyr199Phe) c.*285A>T (n.*285A>T) c.677A>T (p.Tyr226Phe) c.689A>T (p.Tyr230Phe) c.36A>T n.345A>T c.608A>T (p.Tyr203Phe) | |
| 11 | g.2167914T>C | CA379128157 | TH | c.596A>G (p.Tyr199Cys) c.*285A>G (n.*285A>G) c.677A>G (p.Tyr226Cys) c.689A>G (p.Tyr230Cys) c.36A>G n.345A>G c.608A>G (p.Tyr203Cys) | |
| 11 | g.2167914T>G | CA379128159 | TH | c.596A>C (p.Tyr199Ser) c.*285A>C (n.*285A>C) c.677A>C (p.Tyr226Ser) c.689A>C (p.Tyr230Ser) c.36A>C n.345A>C c.608A>C (p.Tyr203Ser) | |
| 11 | g.2167915A>C | CA379128161 | TH | c.595T>G (p.Tyr199Asp) c.*284T>G (n.*284T>G) c.676T>G (p.Tyr226Asp) c.688T>G (p.Tyr230Asp) c.35T>G n.344T>G c.607T>G (p.Tyr203Asp) | |
| 11 | g.2167915A>G | CA379128163 | TH | c.595T>C (p.Tyr199His) c.*284T>C (n.*284T>C) c.676T>C (p.Tyr226His) c.688T>C (p.Tyr230His) c.35T>C n.344T>C c.607T>C (p.Tyr203His) | |
| 11 | g.2167915A>T | CA379128165 | TH | c.595T>A (p.Tyr199Asn) c.*284T>A (n.*284T>A) c.676T>A (p.Tyr226Asn) c.688T>A (p.Tyr230Asn) c.35T>A n.344T>A c.607T>A (p.Tyr203Asn) | |
| 11 | g.2167916C>A | CA5818581 | TH | c.594G>T (p.Val198=) c.*283G>T (n.*283G>T) c.675G>T (p.Val225=) c.687G>T (p.Val229=) c.34G>T n.343G>T c.606G>T (p.Val202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167916C= | CA1948007250 | TH | c.594G= (p.Val198=) c.*283G= (n.*283G=) c.675G= (p.Val225=) c.687G= (p.Val229=) c.34G= n.343G= c.606G= (p.Val202=) | |
| 11 | g.2167916C>G | CA472035169 | TH | c.594G>C (p.Val198=) c.*283G>C (n.*283G>C) c.675G>C (p.Val225=) c.687G>C (p.Val229=) c.34G>C n.343G>C c.606G>C (p.Val202=) | |
| 11 | g.2167916C>T | CA5818582 | TH | c.594G>A (p.Val198=) c.*283G>A (n.*283G>A) c.675G>A (p.Val225=) c.687G>A (p.Val229=) c.34G>A n.343G>A c.606G>A (p.Val202=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167917A>C | CA379128168 | TH | c.593T>G (p.Val198Gly) c.*282T>G (n.*282T>G) c.674T>G (p.Val225Gly) c.686T>G (p.Val229Gly) c.33T>G n.342T>G c.605T>G (p.Val202Gly) | |
| 11 | g.2167917A>G | CA379128169 | TH | c.593T>C (p.Val198Ala) c.*282T>C (n.*282T>C) c.674T>C (p.Val225Ala) c.686T>C (p.Val229Ala) c.33T>C n.342T>C c.605T>C (p.Val202Ala) | |
| 11 | g.2167917A>T | CA379128171 | TH | c.593T>A (p.Val198Glu) c.*282T>A (n.*282T>A) c.674T>A (p.Val225Glu) c.686T>A (p.Val229Glu) c.33T>A n.342T>A c.605T>A (p.Val202Glu) | |
| 11 | g.2167918C>A | CA379128178 | TH | c.592G>T (p.Val198Leu) c.*281G>T (n.*281G>T) c.673G>T (p.Val225Leu) c.685G>T (p.Val229Leu) c.32G>T n.341G>T c.604G>T (p.Val202Leu) | gnomAD v4 |
| 11 | g.2167918C= | CA1948007256 | TH | c.592G= (p.Val198=) c.*281G= (n.*281G=) c.673G= (p.Val225=) c.685G= (p.Val229=) c.32G= n.341G= c.604G= (p.Val202=) | |
| 11 | g.2167918C>G | CA379128174 | TH | c.592G>C (p.Val198Leu) c.*281G>C (n.*281G>C) c.673G>C (p.Val225Leu) c.685G>C (p.Val229Leu) c.32G>C n.341G>C c.604G>C (p.Val202Leu) | dbSNP |
| 11 | g.2167918C>T | CA379128176 | TH | c.592G>A (p.Val198Met) c.*281G>A (n.*281G>A) c.673G>A (p.Val225Met) c.685G>A (p.Val229Met) c.32G>A n.341G>A c.604G>A (p.Val202Met) | gnomAD v4 |
| 11 | g.2167919del | CA2697558820 | TH | c.592del (p.Val198CysfsTer8) c.*281del (n.*281del) c.673del (p.Val225CysfsTer8) c.685del (p.Val229CysfsTer8) c.32del n.341del c.604del (p.Val202CysfsTer8) | ClinVar |
| 11 | g.2167919C>A | CA379128180 | TH | c.591G>T (p.Gln197His) c.*280G>T (n.*280G>T) c.672G>T (p.Gln224His) c.684G>T (p.Gln228His) c.31G>T n.340G>T c.603G>T (p.Gln201His) | gnomAD v4 |
| 11 | g.2167919C>G | CA379128182 | TH | c.591G>C (p.Gln197His) c.*280G>C (n.*280G>C) c.672G>C (p.Gln224His) c.684G>C (p.Gln228His) c.31G>C n.340G>C c.603G>C (p.Gln201His) | gnomAD v4 |
| 11 | g.2167919C>T | CA472035170 | TH | c.591G>A (p.Gln197=) c.*280G>A (n.*280G>A) c.672G>A (p.Gln224=) c.684G>A (p.Gln228=) c.31G>A n.340G>A c.603G>A (p.Gln201=) | |
| 11 | g.2167920T>A | CA379128185 | TH | c.590A>T (p.Gln197Leu) c.*279A>T (n.*279A>T) c.671A>T (p.Gln224Leu) c.683A>T (p.Gln228Leu) c.30A>T n.339A>T c.602A>T (p.Gln201Leu) | |
| 11 | g.2167920T>C | CA379128186 | TH | c.590A>G (p.Gln197Arg) c.*279A>G (n.*279A>G) c.671A>G (p.Gln224Arg) c.683A>G (p.Gln228Arg) c.30A>G n.339A>G c.602A>G (p.Gln201Arg) | |
| 11 | g.2167920T>G | CA379128189 | TH | c.590A>C (p.Gln197Pro) c.*279A>C (n.*279A>C) c.671A>C (p.Gln224Pro) c.683A>C (p.Gln228Pro) c.30A>C n.339A>C c.602A>C (p.Gln201Pro) | |
| 11 | g.2167921G>A | CA379128190 | TH | c.589C>T (p.Gln197Ter) c.*278C>T (n.*278C>T) c.670C>T (p.Gln224Ter) c.682C>T (p.Gln228Ter) c.29C>T n.338C>T c.601C>T (p.Gln201Ter) | |
| 11 | g.2167921G>C | CA379128192 | TH | c.589C>G (p.Gln197Glu) c.*278C>G (n.*278C>G) c.670C>G (p.Gln224Glu) c.682C>G (p.Gln228Glu) c.29C>G n.338C>G c.601C>G (p.Gln201Glu) | |
| 11 | g.2167921G>T | CA379128194 | TH | c.589C>A (p.Gln197Lys) c.*278C>A (n.*278C>A) c.670C>A (p.Gln224Lys) c.682C>A (p.Gln228Lys) c.29C>A n.338C>A c.601C>A (p.Gln201Lys) | |
| 11 | g.2167922dup | CA2611971190 | TH | c.589dup (p.Gln197ProfsTer12) c.*278dup (n.*278dup) c.670dup (p.Gln224ProfsTer12) c.682dup (p.Gln228ProfsTer12) c.29dup n.338dup c.601dup (p.Gln201ProfsTer12) | gnomAD v4 |
| 11 | g.2167922G>A | CA472035171 | TH | c.588C>T (p.Asp196=) c.*277C>T (n.*277C>T) c.669C>T (p.Asp223=) c.681C>T (p.Asp227=) c.28C>T n.337C>T c.600C>T (p.Asp200=) | |
| 11 | g.2167922G>C | CA379128196 | TH | c.588C>G (p.Asp196Glu) c.*277C>G (n.*277C>G) c.669C>G (p.Asp223Glu) c.681C>G (p.Asp227Glu) c.28C>G n.337C>G c.600C>G (p.Asp200Glu) | |
| 11 | g.2167922G>T | CA379128199 | TH | c.588C>A (p.Asp196Glu) c.*277C>A (n.*277C>A) c.669C>A (p.Asp223Glu) c.681C>A (p.Asp227Glu) c.28C>A n.337C>A c.600C>A (p.Asp200Glu) | |
| 11 | g.2167923T>A | CA379128202 | TH | c.587A>T (p.Asp196Val) c.*276A>T (n.*276A>T) c.668A>T (p.Asp223Val) c.680A>T (p.Asp227Val) c.27A>T n.336A>T c.599A>T (p.Asp200Val) | |
| 11 | g.2167923T>C | CA379128204 | TH | c.587A>G (p.Asp196Gly) c.*276A>G (n.*276A>G) c.668A>G (p.Asp223Gly) c.680A>G (p.Asp227Gly) c.27A>G n.336A>G c.599A>G (p.Asp200Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2167923T>G | CA379128206 | TH | c.587A>C (p.Asp196Ala) c.*276A>C (n.*276A>C) c.668A>C (p.Asp223Ala) c.680A>C (p.Asp227Ala) c.27A>C n.336A>C c.599A>C (p.Asp200Ala) | |
| 11 | g.2167923T= | CA1948007257 | TH | c.587A= (p.Asp196=) c.*276A= (n.*276A=) c.668A= (p.Asp223=) c.680A= (p.Asp227=) c.27A= n.336A= c.599A= (p.Asp200=) | |
| 11 | g.2167924C>A | CA379128212 | TH | c.586G>T (p.Asp196Tyr) c.*275G>T (n.*275G>T) c.667G>T (p.Asp223Tyr) c.679G>T (p.Asp227Tyr) c.26G>T n.335G>T c.598G>T (p.Asp200Tyr) | |
| 11 | g.2167924C>G | CA379128210 | TH | c.586G>C (p.Asp196His) c.*275G>C (n.*275G>C) c.667G>C (p.Asp223His) c.679G>C (p.Asp227His) c.26G>C n.335G>C c.598G>C (p.Asp200His) | |
| 11 | g.2167924C>T | CA379128208 | TH | c.586G>A (p.Asp196Asn) c.*275G>A (n.*275G>A) c.667G>A (p.Asp223Asn) c.679G>A (p.Asp227Asn) c.26G>A n.335G>A c.598G>A (p.Asp200Asn) | |
| 11 | g.2167925C>A | CA5818584 | TH | c.585G>T (p.Ser195=) c.*274G>T (n.*274G>T) c.666G>T (p.Ser222=) c.678G>T (p.Ser226=) c.25G>T n.334G>T c.597G>T (p.Ser199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167925C= | CA1948007262 | TH | c.585G= (p.Ser195=) c.*274G= (n.*274G=) c.666G= (p.Ser222=) c.678G= (p.Ser226=) c.25G= n.334G= c.597G= (p.Ser199=) | |
| 11 | g.2167925C>G | CA16621613 | TH | c.585G>C (p.Ser195=) c.*274G>C (n.*274G>C) c.666G>C (p.Ser222=) c.678G>C (p.Ser226=) c.25G>C n.334G>C c.597G>C (p.Ser199=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167925C>T | CA5818583 | TH | c.585G>A (p.Ser195=) c.*274G>A (n.*274G>A) c.666G>A (p.Ser222=) c.678G>A (p.Ser226=) c.25G>A n.334G>A c.597G>A (p.Ser199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167926G>A | CA5818585 | TH | c.584C>T (p.Ser195Leu) c.*273C>T (n.*273C>T) c.665C>T (p.Ser222Leu) c.677C>T (p.Ser226Leu) c.24C>T n.333C>T c.596C>T (p.Ser199Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2167926G>C | CA379128218 | TH | c.584C>G (p.Ser195Trp) c.*273C>G (n.*273C>G) c.665C>G (p.Ser222Trp) c.677C>G (p.Ser226Trp) c.24C>G n.333C>G c.596C>G (p.Ser199Trp) | gnomAD v4 |
| 11 | g.2167926G= | CA1948007271 | TH | c.584C= (p.Ser195=) c.*273C= (n.*273C=) c.665C= (p.Ser222=) c.677C= (p.Ser226=) c.24C= n.333C= c.596C= (p.Ser199=) | |
| 11 | g.2167926G>T | CA379128221 | TH | c.584C>A (p.Ser195Ter) c.*273C>A (n.*273C>A) c.665C>A (p.Ser222Ter) c.677C>A (p.Ser226Ter) c.24C>A n.333C>A c.596C>A (p.Ser199Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2167926_2167927delinsGA | CA1948007269 | TH | c.583_584delinsTC (p.Ser195=) c.*272_*273delinsTC (n.*272_*273delinsTC) c.664_665delinsTC (p.Ser222=) c.676_677delinsTC (p.Ser226=) c.23_24delinsTC n.332_333delinsTC c.595_596delinsTC (p.Ser199=) | |
| 11 | g.2167927del | CA1948007272 | TH | c.583del (p.Ser195ArgfsTer11) c.*272del (n.*272del) c.664del (p.Ser222ArgfsTer11) c.676del (p.Ser226ArgfsTer11) c.23del n.332del c.595del (p.Ser199ArgfsTer11) | ClinVar dbSNP |
| 11 | g.2167927A>C | CA379128223 | TH | c.583T>G (p.Ser195Ala) c.*272T>G (n.*272T>G) c.664T>G (p.Ser222Ala) c.676T>G (p.Ser226Ala) c.23T>G n.332T>G c.595T>G (p.Ser199Ala) | |
| 11 | g.2167927A>G | CA379128225 | TH | c.583T>C (p.Ser195Pro) c.*272T>C (n.*272T>C) c.664T>C (p.Ser222Pro) c.676T>C (p.Ser226Pro) c.23T>C n.332T>C c.595T>C (p.Ser199Pro) | |
| 11 | g.2167927A>T | CA379128228 | TH | c.583T>A (p.Ser195Thr) c.*272T>A (n.*272T>A) c.664T>A (p.Ser222Thr) c.676T>A (p.Ser226Thr) c.23T>A n.332T>A c.595T>A (p.Ser199Thr) | |
| 11 | g.2167928G>A | CA472035172 | TH | c.582C>T (p.Phe194=) c.*271C>T (n.*271C>T) c.663C>T (p.Phe221=) c.675C>T (p.Phe225=) c.22C>T n.331C>T c.594C>T (p.Phe198=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167928G>C | CA379128230 | TH | c.582C>G (p.Phe194Leu) c.*271C>G (n.*271C>G) c.663C>G (p.Phe221Leu) c.675C>G (p.Phe225Leu) c.22C>G n.331C>G c.594C>G (p.Phe198Leu) | dbSNP |
| 11 | g.2167928G= | CA1948007273 | TH | c.582C= (p.Phe194=) c.*271C= (n.*271C=) c.663C= (p.Phe221=) c.675C= (p.Phe225=) c.22C= n.331C= c.594C= (p.Phe198=) | |
| 11 | g.2167928G>T | CA5818586 | TH | c.582C>A (p.Phe194Leu) c.*271C>A (n.*271C>A) c.663C>A (p.Phe221Leu) c.675C>A (p.Phe225Leu) c.22C>A n.331C>A c.594C>A (p.Phe198Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167929A>C | CA379128234 | TH | c.581T>G (p.Phe194Cys) c.*270T>G (n.*270T>G) c.662T>G (p.Phe221Cys) c.674T>G (p.Phe225Cys) c.21T>G n.330T>G c.593T>G (p.Phe198Cys) | |
| 11 | g.2167929A>G | CA379128236 | TH | c.581T>C (p.Phe194Ser) c.*270T>C (n.*270T>C) c.662T>C (p.Phe221Ser) c.674T>C (p.Phe225Ser) c.21T>C n.330T>C c.593T>C (p.Phe198Ser) | |
| 11 | g.2167929A>T | CA379128238 | TH | c.581T>A (p.Phe194Tyr) c.*270T>A (n.*270T>A) c.662T>A (p.Phe221Tyr) c.674T>A (p.Phe225Tyr) c.21T>A n.330T>A c.593T>A (p.Phe198Tyr) | |
| 11 | g.2167930A>C | CA379128243 | TH | c.580T>G (p.Phe194Val) c.*269T>G (n.*269T>G) c.661T>G (p.Phe221Val) c.673T>G (p.Phe225Val) c.20T>G n.329T>G c.592T>G (p.Phe198Val) | |
| 11 | g.2167930A>G | CA379128245 | TH | c.580T>C (p.Phe194Leu) c.*269T>C (n.*269T>C) c.661T>C (p.Phe221Leu) c.673T>C (p.Phe225Leu) c.20T>C n.329T>C c.592T>C (p.Phe198Leu) | |
| 11 | g.2167930A>T | CA379128241 | TH | c.580T>A (p.Phe194Ile) c.*269T>A (n.*269T>A) c.661T>A (p.Phe221Ile) c.673T>A (p.Phe225Ile) c.20T>A n.329T>A c.592T>A (p.Phe198Ile) | |
| 11 | g.2167931G>A | CA5818587 | TH | c.579C>T (p.Gly193=) c.*268C>T (n.*268C>T) c.660C>T (p.Gly220=) c.672C>T (p.Gly224=) c.19C>T n.328C>T c.591C>T (p.Gly197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167931G>C | CA472035174 | TH | c.579C>G (p.Gly193=) c.*268C>G (n.*268C>G) c.660C>G (p.Gly220=) c.672C>G (p.Gly224=) c.19C>G n.328C>G c.591C>G (p.Gly197=) | |
| 11 | g.2167931G= | CA1948007280 | TH | c.579C= (p.Gly193=) c.*268C= (n.*268C=) c.660C= (p.Gly220=) c.672C= (p.Gly224=) c.19C= n.328C= c.591C= (p.Gly197=) | |
| 11 | g.2167931G>T | CA472035175 | TH | c.579C>A (p.Gly193=) c.*268C>A (n.*268C>A) c.660C>A (p.Gly220=) c.672C>A (p.Gly224=) c.19C>A n.328C>A c.591C>A (p.Gly197=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2167932C>A | CA379128254 | TH | c.578G>T (p.Gly193Val) c.*267G>T (n.*267G>T) c.659G>T (p.Gly220Val) c.671G>T (p.Gly224Val) c.18G>T n.327G>T c.590G>T (p.Gly197Val) | |
| 11 | g.2167932C>G | CA379128251 | TH | c.578G>C (p.Gly193Ala) c.*267G>C (n.*267G>C) c.659G>C (p.Gly220Ala) c.671G>C (p.Gly224Ala) c.18G>C n.327G>C c.590G>C (p.Gly197Ala) | |
| 11 | g.2167932C>T | CA379128252 | TH | c.578G>A (p.Gly193Asp) c.*267G>A (n.*267G>A) c.659G>A (p.Gly220Asp) c.671G>A (p.Gly224Asp) c.18G>A n.327G>A c.590G>A (p.Gly197Asp) | |
| 11 | g.2167933C>A | CA379128256 | TH | c.577G>T (p.Gly193Cys) c.*266G>T (n.*266G>T) c.658G>T (p.Gly220Cys) c.670G>T (p.Gly224Cys) c.17G>T n.326G>T c.589G>T (p.Gly197Cys) | |
| 11 | g.2167933C>G | CA379128258 | TH | c.577G>C (p.Gly193Arg) c.*266G>C (n.*266G>C) c.658G>C (p.Gly220Arg) c.670G>C (p.Gly224Arg) c.17G>C n.326G>C c.589G>C (p.Gly197Arg) | |
| 11 | g.2167933C>T | CA379128260 | TH | c.577G>A (p.Gly193Ser) c.*266G>A (n.*266G>A) c.658G>A (p.Gly220Ser) c.670G>A (p.Gly224Ser) c.17G>A n.326G>A c.589G>A (p.Gly197Ser) | ClinVar dbSNP |
| 11 | g.2167934C>A | CA379128263 | TH | c.577-1G>T (n.577-1G>T) c.*266-1G>T (n.*266-1G>T) c.658-1G>T (n.658-1G>T) c.670-1G>T (n.670-1G>T) c.17-1G>T n.326-1G>T c.589-1G>T (n.589-1G>T) | |
| 11 | g.2167934C>G | CA379128265 | TH | c.577-1G>C (n.577-1G>C) c.*266-1G>C (n.*266-1G>C) c.658-1G>C (n.658-1G>C) c.670-1G>C (n.670-1G>C) c.17-1G>C n.326-1G>C c.589-1G>C (n.589-1G>C) | |
| 11 | g.2167934C>T | CA379128267 | TH | c.577-1G>A (n.577-1G>A) c.*266-1G>A (n.*266-1G>A) c.658-1G>A (n.658-1G>A) c.670-1G>A (n.670-1G>A) c.17-1G>A n.326-1G>A c.589-1G>A (n.589-1G>A) | |
| 11 | g.2167935T>A | CA379128270 | TH | c.577-2A>T (n.577-2A>T) c.*266-2A>T (n.*266-2A>T) c.658-2A>T (n.658-2A>T) c.670-2A>T (n.670-2A>T) c.17-2A>T n.326-2A>T c.589-2A>T (n.589-2A>T) | ClinVar |
| 11 | g.2167935T>C | CA379128272 | TH | c.577-2A>G (n.577-2A>G) c.*266-2A>G (n.*266-2A>G) c.658-2A>G (n.658-2A>G) c.670-2A>G (n.670-2A>G) c.17-2A>G n.326-2A>G c.589-2A>G (n.589-2A>G) | ClinVar |
| 11 | g.2167935T>G | CA379128274 | TH | c.577-2A>C (n.577-2A>C) c.*266-2A>C (n.*266-2A>C) c.658-2A>C (n.658-2A>C) c.670-2A>C (n.670-2A>C) c.17-2A>C n.326-2A>C c.589-2A>C (n.589-2A>C) | |
| 11 | g.2167936G>A | CA5818588 | TH | c.577-3C>T (n.577-3C>T) c.*266-3C>T (n.*266-3C>T) c.658-3C>T (n.658-3C>T) c.670-3C>T (n.670-3C>T) c.17-3C>T n.326-3C>T c.589-3C>T (n.589-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167936G= | CA1948007284 | TH | c.577-3C= (n.577-3C=) c.*266-3C= (n.*266-3C=) c.658-3C= (n.658-3C=) c.670-3C= (n.670-3C=) c.17-3C= n.326-3C= c.589-3C= (n.589-3C=) | |
| 11 | g.2167937_2167938delinsAG | CA1948007286 | TH | c.577-5_577-4delinsCT (n.577-5_577-4delinsCT) c.*266-5_*266-4delinsCT (n.*266-5_*266-4delinsCT) c.658-5_658-4delinsCT (n.658-5_658-4delinsCT) c.670-5_670-4delinsCT (n.670-5_670-4delinsCT) c.17-5_17-4delinsCT n.326-5_326-4delinsCT c.589-5_589-4delinsCT (n.589-5_589-4delinsCT) | |
| 11 | g.2167938G>A | CA597090452 | TH | c.577-5C>T (n.577-5C>T) c.*266-5C>T (n.*266-5C>T) c.658-5C>T (n.658-5C>T) c.670-5C>T (n.670-5C>T) c.17-5C>T n.326-5C>T c.589-5C>T (n.589-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167938G= | CA1948007291 | TH | c.577-5C= (n.577-5C=) c.*266-5C= (n.*266-5C=) c.658-5C= (n.658-5C=) c.670-5C= (n.670-5C=) c.17-5C= n.326-5C= c.589-5C= (n.589-5C=) | |
| 11 | g.2167938G>T | CA2611971293 | TH | c.577-5C>A (n.577-5C>A) c.*266-5C>A (n.*266-5C>A) c.658-5C>A (n.658-5C>A) c.670-5C>A (n.670-5C>A) c.17-5C>A n.326-5C>A c.589-5C>A (n.589-5C>A) | gnomAD v4 |
| 11 | g.2167940del | CA5818589 | TH | c.577-5del (n.577-5del) c.*266-5del (n.*266-5del) c.658-5del (n.658-5del) c.670-5del (n.670-5del) c.17-5del n.326-5del c.589-5del (n.589-5del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167940_2167957del | CA2580082611 | TH | c.577-22_577-5del (n.577-22_577-5del) c.*266-22_*266-5del (n.*266-22_*266-5del) c.658-22_658-5del (n.658-22_658-5del) c.670-22_670-5del (n.670-22_670-5del) c.17-22_17-5del n.326-22_326-5del c.589-22_589-5del (n.589-22_589-5del) | ClinVar |
| 11 | g.2167939G>A | CA472035176 | TH | c.577-6C>T (n.577-6C>T) c.*266-6C>T (n.*266-6C>T) c.658-6C>T (n.658-6C>T) c.670-6C>T (n.670-6C>T) c.17-6C>T n.326-6C>T c.589-6C>T (n.589-6C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2167939G= | CA1948007294 | TH | c.577-6C= (n.577-6C=) c.*266-6C= (n.*266-6C=) c.658-6C= (n.658-6C=) c.670-6C= (n.670-6C=) c.17-6C= n.326-6C= c.589-6C= (n.589-6C=) | |
| 11 | g.2167940G>A | CA2499220857 | TH | c.577-7C>T (n.577-7C>T) c.*266-7C>T (n.*266-7C>T) c.658-7C>T (n.658-7C>T) c.670-7C>T (n.670-7C>T) c.17-7C>T n.326-7C>T c.589-7C>T (n.589-7C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2167941C>T | CA2611971330 | TH | c.577-8G>A (n.577-8G>A) c.*266-8G>A (n.*266-8G>A) c.658-8G>A (n.658-8G>A) c.670-8G>A (n.670-8G>A) c.17-8G>A n.326-8G>A c.589-8G>A (n.589-8G>A) | gnomAD v4 |
| 11 | g.2167943G>A | CA2499220858 | TH | c.577-10C>T (n.577-10C>T) c.*266-10C>T (n.*266-10C>T) c.658-10C>T (n.658-10C>T) c.670-10C>T (n.670-10C>T) c.17-10C>T n.326-10C>T c.589-10C>T (n.589-10C>T) | ClinVar dbSNP |
| 11 | g.2167943G>C | CA2580082613 | TH | c.577-10C>G (n.577-10C>G) c.*266-10C>G (n.*266-10C>G) c.658-10C>G (n.658-10C>G) c.670-10C>G (n.670-10C>G) c.17-10C>G n.326-10C>G c.589-10C>G (n.589-10C>G) | ClinVar gnomAD v4 |
| 11 | g.2167943G>T | CA2611971340 | TH | c.577-10C>A (n.577-10C>A) c.*266-10C>A (n.*266-10C>A) c.658-10C>A (n.658-10C>A) c.670-10C>A (n.670-10C>A) c.17-10C>A n.326-10C>A c.589-10C>A (n.589-10C>A) | gnomAD v4 |
| 11 | g.2167945G>A | CA597090453 | TH | c.577-12C>T (n.577-12C>T) c.*266-12C>T (n.*266-12C>T) c.658-12C>T (n.658-12C>T) c.670-12C>T (n.670-12C>T) c.17-12C>T n.326-12C>T c.589-12C>T (n.589-12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167945G= | CA1948007296 | TH | c.577-12C= (n.577-12C=) c.*266-12C= (n.*266-12C=) c.658-12C= (n.658-12C=) c.670-12C= (n.670-12C=) c.17-12C= n.326-12C= c.589-12C= (n.589-12C=) | |
| 11 | g.2167947_2167957del | CA2574757190 | TH | c.577-22_577-12del (n.577-22_577-12del) c.*266-22_*266-12del (n.*266-22_*266-12del) c.658-22_658-12del (n.658-22_658-12del) c.670-22_670-12del (n.670-22_670-12del) c.17-22_17-12del n.326-22_326-12del c.589-22_589-12del (n.589-22_589-12del) | |
| 11 | g.2167946G>A | CA1948007299 | TH | c.577-13C>T (n.577-13C>T) c.*266-13C>T (n.*266-13C>T) c.658-13C>T (n.658-13C>T) c.670-13C>T (n.670-13C>T) c.17-13C>T n.326-13C>T c.589-13C>T (n.589-13C>T) | ClinVar dbSNP |
| 11 | g.2167946G= | CA1948007298 | TH | c.577-13C= (n.577-13C=) c.*266-13C= (n.*266-13C=) c.658-13C= (n.658-13C=) c.670-13C= (n.670-13C=) c.17-13C= n.326-13C= c.589-13C= (n.589-13C=) | |
| 11 | g.2167947G>A | CA2611971353 | TH | c.577-14C>T (n.577-14C>T) c.*266-14C>T (n.*266-14C>T) c.658-14C>T (n.658-14C>T) c.670-14C>T (n.670-14C>T) c.17-14C>T n.326-14C>T c.589-14C>T (n.589-14C>T) | gnomAD v4 |
| 11 | g.2167948G>A | CA5818590 | TH | c.577-15C>T (n.577-15C>T) c.*266-15C>T (n.*266-15C>T) c.658-15C>T (n.658-15C>T) c.670-15C>T (n.670-15C>T) c.17-15C>T n.326-15C>T c.589-15C>T (n.589-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167948G>C | CA2723071787 | TH | c.577-15C>G (n.577-15C>G) c.*266-15C>G (n.*266-15C>G) c.658-15C>G (n.658-15C>G) c.670-15C>G (n.670-15C>G) c.17-15C>G n.326-15C>G c.589-15C>G (n.589-15C>G) | dbSNP |
| 11 | g.2167948G= | CA1948007302 | TH | c.577-15C= (n.577-15C=) c.*266-15C= (n.*266-15C=) c.658-15C= (n.658-15C=) c.670-15C= (n.670-15C=) c.17-15C= n.326-15C= c.589-15C= (n.589-15C=) | |
| 11 | g.2167951G>A | CA2611971370 | TH | c.577-18C>T (n.577-18C>T) c.*266-18C>T (n.*266-18C>T) c.658-18C>T (n.658-18C>T) c.670-18C>T (n.670-18C>T) c.17-18C>T n.326-18C>T c.589-18C>T (n.589-18C>T) | dbSNP gnomAD v4 |
| 11 | g.2167952C= | CA1948007304 | TH | c.577-19G= (n.577-19G=) c.*266-19G= (n.*266-19G=) c.658-19G= (n.658-19G=) c.670-19G= (n.670-19G=) c.17-19G= n.326-19G= c.589-19G= (n.589-19G=) | |
| 11 | g.2167952C>T | CA5818591 | TH | c.577-19G>A (n.577-19G>A) c.*266-19G>A (n.*266-19G>A) c.658-19G>A (n.658-19G>A) c.670-19G>A (n.670-19G>A) c.17-19G>A n.326-19G>A c.589-19G>A (n.589-19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167953A= | CA1948007307 | TH | c.577-20T= (n.577-20T=) c.*266-20T= (n.*266-20T=) c.658-20T= (n.658-20T=) c.670-20T= (n.670-20T=) c.17-20T= n.326-20T= c.589-20T= (n.589-20T=) | |
| 11 | g.2167953A>G | CA597090454 | TH | c.577-20T>C (n.577-20T>C) c.*266-20T>C (n.*266-20T>C) c.658-20T>C (n.658-20T>C) c.670-20T>C (n.670-20T>C) c.17-20T>C n.326-20T>C c.589-20T>C (n.589-20T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167954C= | CA1948007310 | TH | c.577-21G= (n.577-21G=) c.*266-21G= (n.*266-21G=) c.658-21G= (n.658-21G=) c.670-21G= (n.670-21G=) c.17-21G= n.326-21G= c.589-21G= (n.589-21G=) | |
| 11 | g.2167954C>G | CA216286623 | TH | c.577-21G>C (n.577-21G>C) c.*266-21G>C (n.*266-21G>C) c.658-21G>C (n.658-21G>C) c.670-21G>C (n.670-21G>C) c.17-21G>C n.326-21G>C c.589-21G>C (n.589-21G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2167954C>T | CA5818592 | TH | c.577-21G>A (n.577-21G>A) c.*266-21G>A (n.*266-21G>A) c.658-21G>A (n.658-21G>A) c.670-21G>A (n.670-21G>A) c.17-21G>A n.326-21G>A c.589-21G>A (n.589-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167955G>A | CA5818593 | TH | c.577-22C>T (n.577-22C>T) c.*266-22C>T (n.*266-22C>T) c.658-22C>T (n.658-22C>T) c.670-22C>T (n.670-22C>T) c.17-22C>T n.326-22C>T c.589-22C>T (n.589-22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167955G>C | CA1948007319 | TH | c.577-22C>G (n.577-22C>G) c.*266-22C>G (n.*266-22C>G) c.658-22C>G (n.658-22C>G) c.670-22C>G (n.670-22C>G) c.17-22C>G n.326-22C>G c.589-22C>G (n.589-22C>G) | dbSNP |
| 11 | g.2167955G= | CA1948007315 | TH | c.577-22C= (n.577-22C=) c.*266-22C= (n.*266-22C=) c.658-22C= (n.658-22C=) c.670-22C= (n.670-22C=) c.17-22C= n.326-22C= c.589-22C= (n.589-22C=) | |
| 11 | g.2167955G>T | CA2580982638 | TH | c.577-22C>A (n.577-22C>A) c.*266-22C>A (n.*266-22C>A) c.658-22C>A (n.658-22C>A) c.670-22C>A (n.670-22C>A) c.17-22C>A n.326-22C>A c.589-22C>A (n.589-22C>A) | gnomAD v4 |
| 11 | g.2167956G>C | CA2574757191 | TH | c.577-23C>G (n.577-23C>G) c.*266-23C>G (n.*266-23C>G) c.658-23C>G (n.658-23C>G) c.670-23C>G (n.670-23C>G) c.17-23C>G n.326-23C>G c.589-23C>G (n.589-23C>G) | |
| 11 | g.2167956G>T | CA2611971415 | TH | c.577-23C>A (n.577-23C>A) c.*266-23C>A (n.*266-23C>A) c.658-23C>A (n.658-23C>A) c.670-23C>A (n.670-23C>A) c.17-23C>A n.326-23C>A c.589-23C>A (n.589-23C>A) | gnomAD v4 |
| 11 | g.2167957G= | CA1948007323 | TH | c.577-24C= (n.577-24C=) c.*266-24C= (n.*266-24C=) c.658-24C= (n.658-24C=) c.670-24C= (n.670-24C=) c.17-24C= n.326-24C= c.589-24C= (n.589-24C=) | |
| 11 | g.2167957G>T | CA5818594 | TH | c.577-24C>A (n.577-24C>A) c.*266-24C>A (n.*266-24C>A) c.658-24C>A (n.658-24C>A) c.670-24C>A (n.670-24C>A) c.17-24C>A n.326-24C>A c.589-24C>A (n.589-24C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167959C= | CA1948007325 | TH | c.577-26G= (n.577-26G=) c.*266-26G= (n.*266-26G=) c.658-26G= (n.658-26G=) c.670-26G= (n.670-26G=) c.17-26G= n.326-26G= c.589-26G= (n.589-26G=) | |
| 11 | g.2167959C>T | CA5818595 | TH | c.577-26G>A (n.577-26G>A) c.*266-26G>A (n.*266-26G>A) c.658-26G>A (n.658-26G>A) c.670-26G>A (n.670-26G>A) c.17-26G>A n.326-26G>A c.589-26G>A (n.589-26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167960A= | CA1948007327 | TH | c.577-27T= (n.577-27T=) c.*266-27T= (n.*266-27T=) c.658-27T= (n.658-27T=) c.670-27T= (n.670-27T=) c.17-27T= n.326-27T= c.589-27T= (n.589-27T=) | |
| 11 | g.2167960A>G | CA1948007329 | TH | c.577-27T>C (n.577-27T>C) c.*266-27T>C (n.*266-27T>C) c.658-27T>C (n.658-27T>C) c.670-27T>C (n.670-27T>C) c.17-27T>C n.326-27T>C c.589-27T>C (n.589-27T>C) | dbSNP |
| 11 | g.2167961G>A | CA1948007331 | TH | c.577-28C>T (n.577-28C>T) c.*266-28C>T (n.*266-28C>T) c.658-28C>T (n.658-28C>T) c.670-28C>T (n.670-28C>T) c.17-28C>T n.326-28C>T c.589-28C>T (n.589-28C>T) | dbSNP gnomAD v4 |
| 11 | g.2167961G= | CA1948007330 | TH | c.577-28C= (n.577-28C=) c.*266-28C= (n.*266-28C=) c.658-28C= (n.658-28C=) c.670-28C= (n.670-28C=) c.17-28C= n.326-28C= c.589-28C= (n.589-28C=) | |
| 11 | g.2167962G>T | CA2611971466 | TH | c.577-29C>A (n.577-29C>A) c.*266-29C>A (n.*266-29C>A) c.658-29C>A (n.658-29C>A) c.670-29C>A (n.670-29C>A) c.17-29C>A n.326-29C>A c.589-29C>A (n.589-29C>A) | gnomAD v4 |
| 11 | g.2167965G>A | CA597090455 | TH | c.577-32C>T (n.577-32C>T) c.*266-32C>T (n.*266-32C>T) c.658-32C>T (n.658-32C>T) c.670-32C>T (n.670-32C>T) c.17-32C>T n.326-32C>T c.589-32C>T (n.589-32C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167965G= | CA1948007333 | TH | c.577-32C= (n.577-32C=) c.*266-32C= (n.*266-32C=) c.658-32C= (n.658-32C=) c.670-32C= (n.670-32C=) c.17-32C= n.326-32C= c.589-32C= (n.589-32C=) | |
| 11 | g.2167965G>T | CA2611971496 | TH | c.577-32C>A (n.577-32C>A) c.*266-32C>A (n.*266-32C>A) c.658-32C>A (n.658-32C>A) c.670-32C>A (n.670-32C>A) c.17-32C>A n.326-32C>A c.589-32C>A (n.589-32C>A) | gnomAD v4 |
| 11 | g.2167966C>A | CA2611971506 | TH | c.577-33G>T (n.577-33G>T) c.*266-33G>T (n.*266-33G>T) c.658-33G>T (n.658-33G>T) c.670-33G>T (n.670-33G>T) c.17-33G>T n.326-33G>T c.589-33G>T (n.589-33G>T) | gnomAD v4 |
| 11 | g.2167966C>T | CA2611971511 | TH | c.577-33G>A (n.577-33G>A) c.*266-33G>A (n.*266-33G>A) c.658-33G>A (n.658-33G>A) c.670-33G>A (n.670-33G>A) c.17-33G>A n.326-33G>A c.589-33G>A (n.589-33G>A) | gnomAD v4 |
| 11 | g.2167966_2167968delinsCTG | CA1948007335 | TH | c.577-35_577-33delinsCAG (n.577-35_577-33delinsCAG) c.*266-35_*266-33delinsCAG (n.*266-35_*266-33delinsCAG) c.658-35_658-33delinsCAG (n.658-35_658-33delinsCAG) c.670-35_670-33delinsCAG (n.670-35_670-33delinsCAG) c.17-35_17-33delinsCAG n.326-35_326-33delinsCAG c.589-35_589-33delinsCAG (n.589-35_589-33delinsCAG) | |
| 11 | g.2167971_2167972insCCCCACCCCAGCACAGCCTCCTGACCTGTGC | CA2611971502 | TH | c.577-33_577-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG (n.577-33_577-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG) c.*266-33_*266-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG (n.*266-33_*266-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG) c.658-33_658-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG (n.658-33_658-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG) c.670-33_670-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG (n.670-33_670-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG) c.17-33_17-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG n.326-33_326-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG c.589-33_589-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG (n.589-33_589-32insGTCAGGAGGCTGTGCTGGGGTGGGGGCACAG) | gnomAD v4 |
| 11 | g.2167969_2167970del | CA1948007336 | TH | c.577-35_577-34del (n.577-35_577-34del) c.*266-35_*266-34del (n.*266-35_*266-34del) c.658-35_658-34del (n.658-35_658-34del) c.670-35_670-34del (n.670-35_670-34del) c.17-35_17-34del n.326-35_326-34del c.589-35_589-34del (n.589-35_589-34del) | dbSNP gnomAD v4 |
| 11 | g.2167968G>T | CA2611971538 | TH | c.577-35C>A (n.577-35C>A) c.*266-35C>A (n.*266-35C>A) c.658-35C>A (n.658-35C>A) c.670-35C>A (n.670-35C>A) c.17-35C>A n.326-35C>A c.589-35C>A (n.589-35C>A) | gnomAD v4 |
| 11 | g.2167971C>A | CA2611971584 | TH | c.577-38G>T (n.577-38G>T) c.*266-38G>T (n.*266-38G>T) c.658-38G>T (n.658-38G>T) c.670-38G>T (n.670-38G>T) c.17-38G>T n.326-38G>T c.589-38G>T (n.589-38G>T) | gnomAD v4 |
| 11 | g.2167971C= | CA1948007338 | TH | c.577-38G= (n.577-38G=) c.*266-38G= (n.*266-38G=) c.658-38G= (n.658-38G=) c.670-38G= (n.670-38G=) c.17-38G= n.326-38G= c.589-38G= (n.589-38G=) | |
| 11 | g.2167971C>G | CA2611971583 | TH | c.577-38G>C (n.577-38G>C) c.*266-38G>C (n.*266-38G>C) c.658-38G>C (n.658-38G>C) c.670-38G>C (n.670-38G>C) c.17-38G>C n.326-38G>C c.589-38G>C (n.589-38G>C) | gnomAD v4 |
| 11 | g.2167971C>T | CA597090456 | TH | c.577-38G>A (n.577-38G>A) c.*266-38G>A (n.*266-38G>A) c.658-38G>A (n.658-38G>A) c.670-38G>A (n.670-38G>A) c.17-38G>A n.326-38G>A c.589-38G>A (n.589-38G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167973G>A | CA5818596 | TH | c.577-40C>T (n.577-40C>T) c.*266-40C>T (n.*266-40C>T) c.658-40C>T (n.658-40C>T) c.670-40C>T (n.670-40C>T) c.17-40C>T n.326-40C>T c.589-40C>T (n.589-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167973G= | CA1948007340 | TH | c.577-40C= (n.577-40C=) c.*266-40C= (n.*266-40C=) c.658-40C= (n.658-40C=) c.670-40C= (n.670-40C=) c.17-40C= n.326-40C= c.589-40C= (n.589-40C=) | |
| 11 | g.2167974G>A | CA2611971592 | TH | c.577-41C>T (n.577-41C>T) c.*266-41C>T (n.*266-41C>T) c.658-41C>T (n.658-41C>T) c.670-41C>T (n.670-41C>T) c.17-41C>T n.326-41C>T c.589-41C>T (n.589-41C>T) | gnomAD v4 |
| 11 | g.2167974G>T | CA2611971597 | TH | c.577-41C>A (n.577-41C>A) c.*266-41C>A (n.*266-41C>A) c.658-41C>A (n.658-41C>A) c.670-41C>A (n.670-41C>A) c.17-41C>A n.326-41C>A c.589-41C>A (n.589-41C>A) | gnomAD v4 |
| 11 | g.2167975G>A | CA934419548 | TH | c.577-42C>T (n.577-42C>T) c.*266-42C>T (n.*266-42C>T) c.658-42C>T (n.658-42C>T) c.670-42C>T (n.670-42C>T) c.17-42C>T n.326-42C>T c.589-42C>T (n.589-42C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2167975G>C | CA2611971627 | TH | c.577-42C>G (n.577-42C>G) c.*266-42C>G (n.*266-42C>G) c.658-42C>G (n.658-42C>G) c.670-42C>G (n.670-42C>G) c.17-42C>G n.326-42C>G c.589-42C>G (n.589-42C>G) | gnomAD v4 |
| 11 | g.2167975G= | CA1948007342 | TH | c.577-42C= (n.577-42C=) c.*266-42C= (n.*266-42C=) c.658-42C= (n.658-42C=) c.670-42C= (n.670-42C=) c.17-42C= n.326-42C= c.589-42C= (n.589-42C=) | |
| 11 | g.2167975G>T | CA2547725440 | TH | c.577-42C>A (n.577-42C>A) c.*266-42C>A (n.*266-42C>A) c.658-42C>A (n.658-42C>A) c.670-42C>A (n.670-42C>A) c.17-42C>A n.326-42C>A c.589-42C>A (n.589-42C>A) | gnomAD v4 |
| 11 | g.2167976G>A | CA2611971641 | TH | c.577-43C>T (n.577-43C>T) c.*266-43C>T (n.*266-43C>T) c.658-43C>T (n.658-43C>T) c.670-43C>T (n.670-43C>T) c.17-43C>T n.326-43C>T c.589-43C>T (n.589-43C>T) | gnomAD v4 |
| 11 | g.2167976G>T | CA2611971653 | TH | c.577-43C>A (n.577-43C>A) c.*266-43C>A (n.*266-43C>A) c.658-43C>A (n.658-43C>A) c.670-43C>A (n.670-43C>A) c.17-43C>A n.326-43C>A c.589-43C>A (n.589-43C>A) | gnomAD v4 |
| 11 | g.2167977T>A | CA1948007344 | TH | c.577-44A>T (n.577-44A>T) c.*266-44A>T (n.*266-44A>T) c.658-44A>T (n.658-44A>T) c.670-44A>T (n.670-44A>T) c.17-44A>T n.326-44A>T c.589-44A>T (n.589-44A>T) | dbSNP |
| 11 | g.2167977T>G | CA934419549 | TH | c.577-44A>C (n.577-44A>C) c.*266-44A>C (n.*266-44A>C) c.658-44A>C (n.658-44A>C) c.670-44A>C (n.670-44A>C) c.17-44A>C n.326-44A>C c.589-44A>C (n.589-44A>C) | gnomAD v3 gnomAD v4 |
| 11 | g.2167977T= | CA1948007343 | TH | c.577-44A= (n.577-44A=) c.*266-44A= (n.*266-44A=) c.658-44A= (n.658-44A=) c.670-44A= (n.670-44A=) c.17-44A= n.326-44A= c.589-44A= (n.589-44A=) | |
| 11 | g.2167978G>A | CA216286672 | TH | c.577-45C>T (n.577-45C>T) c.*266-45C>T (n.*266-45C>T) c.658-45C>T (n.658-45C>T) c.670-45C>T (n.670-45C>T) c.17-45C>T n.326-45C>T c.589-45C>T (n.589-45C>T) | dbSNP gnomAD v4 |
| 11 | g.2167978G>C | CA5818597 | TH | c.577-45C>G (n.577-45C>G) c.*266-45C>G (n.*266-45C>G) c.658-45C>G (n.658-45C>G) c.670-45C>G (n.670-45C>G) c.17-45C>G n.326-45C>G c.589-45C>G (n.589-45C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167978G= | CA1948007347 | TH | c.577-45C= (n.577-45C=) c.*266-45C= (n.*266-45C=) c.658-45C= (n.658-45C=) c.670-45C= (n.670-45C=) c.17-45C= n.326-45C= c.589-45C= (n.589-45C=) | |
| 11 | g.2167978G>T | CA597090457 | TH | c.577-45C>A (n.577-45C>A) c.*266-45C>A (n.*266-45C>A) c.658-45C>A (n.658-45C>A) c.670-45C>A (n.670-45C>A) c.17-45C>A n.326-45C>A c.589-45C>A (n.589-45C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167982del | CA2611971666 | TH | c.577-45del (n.577-45del) c.*266-45del (n.*266-45del) c.658-45del (n.658-45del) c.670-45del (n.670-45del) c.17-45del n.326-45del c.589-45del (n.589-45del) | gnomAD v4 |
| 11 | g.2167979G>C | CA2611971691 | TH | c.577-46C>G (n.577-46C>G) c.*266-46C>G (n.*266-46C>G) c.658-46C>G (n.658-46C>G) c.670-46C>G (n.670-46C>G) c.17-46C>G n.326-46C>G c.589-46C>G (n.589-46C>G) | gnomAD v4 |