Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2166905_2166922dup | CA597431466 | TH | c.808_825dup (p.Val275_Ser276insProGlnLeuGluAspVal) c.*497_*514dup (n.*497_*514dup) c.696-371_696-354dup (n.696-371_696-354dup) c.*528_*545dup (n.*528_*545dup) c.889_906dup (p.Val302_Ser303insProGlnLeuGluAspVal) c.901_918dup (p.Val306_Ser307insProGlnLeuGluAspVal) c.136-371_136-354dup c.136-152_136-135dup n.937_954dup n.357_374dup c.820_837dup (p.Val279_Ser280insProGlnLeuGluAspVal) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166904_2166908delinsACGTC | CA1948005786 | TH | c.820_824delinsGACGT (p.Asp274=) c.*509_*513delinsGACGT (n.*509_*513delinsGACGT) c.696-359_696-355delinsGACGT (n.696-359_696-355delinsGACGT) c.*540_*544delinsGACGT (n.*540_*544delinsGACGT) c.901_905delinsGACGT (p.Asp301=) c.913_917delinsGACGT (p.Asp305=) c.136-359_136-355delinsGACGT c.136-140_136-136delinsGACGT n.949_953delinsGACGT n.369_373delinsGACGT c.832_836delinsGACGT (p.Asp278=) | |
11 | g.2166906_2166909del | CA674607087 | TH | c.820_823del (p.Asp274SerfsTer5) c.*509_*512del (n.*509_*512del) c.696-359_696-356del (n.696-359_696-356del) c.*540_*543del (n.*540_*543del) c.901_904del (p.Asp301SerfsTer5) c.913_916del (p.Asp305SerfsTer5) c.136-359_136-356del c.136-140_136-137del n.949_952del n.369_372del c.832_835del (p.Asp278SerfsTer5) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166908C>A | CA379126563 | TH | c.820G>T (p.Asp274Tyr) c.*509G>T (n.*509G>T) c.696-359G>T (n.696-359G>T) c.*540G>T (n.*540G>T) c.901G>T (p.Asp301Tyr) c.913G>T (p.Asp305Tyr) c.136-359G>T c.136-140G>T n.949G>T n.369G>T c.832G>T (p.Asp278Tyr) | gnomAD v4 |
11 | g.2166908C= | CA1948005799 | TH | c.820G= (p.Asp274=) c.*509G= (n.*509G=) c.696-359G= (n.696-359G=) c.*540G= (n.*540G=) c.901G= (p.Asp301=) c.913G= (p.Asp305=) c.136-359G= c.136-140G= n.949G= n.369G= c.832G= (p.Asp278=) | |
11 | g.2166908C>G | CA379126561 | TH | c.820G>C (p.Asp274His) c.*509G>C (n.*509G>C) c.696-359G>C (n.696-359G>C) c.*540G>C (n.*540G>C) c.901G>C (p.Asp301His) c.913G>C (p.Asp305His) c.136-359G>C c.136-140G>C n.949G>C n.369G>C c.832G>C (p.Asp278His) | |
11 | g.2166908C>T | CA379126560 | TH | c.820G>A (p.Asp274Asn) c.*509G>A (n.*509G>A) c.696-359G>A (n.696-359G>A) c.*540G>A (n.*540G>A) c.901G>A (p.Asp301Asn) c.913G>A (p.Asp305Asn) c.136-359G>A c.136-140G>A n.949G>A n.369G>A c.832G>A (p.Asp278Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166909C>A | CA379126565 | TH | c.819G>T (p.Glu273Asp) c.*508G>T (n.*508G>T) c.696-360G>T (n.696-360G>T) c.*539G>T (n.*539G>T) c.900G>T (p.Glu300Asp) c.912G>T (p.Glu304Asp) c.136-360G>T c.136-141G>T n.948G>T n.368G>T c.831G>T (p.Glu277Asp) | COSMIC |
11 | g.2166909C= | CA1948005803 | TH | c.819G= (p.Glu273=) c.*508G= (n.*508G=) c.696-360G= (n.696-360G=) c.*539G= (n.*539G=) c.900G= (p.Glu300=) c.912G= (p.Glu304=) c.136-360G= c.136-141G= n.948G= n.368G= c.831G= (p.Glu277=) | |
11 | g.2166909C>G | CA379126566 | TH | c.819G>C (p.Glu273Asp) c.*508G>C (n.*508G>C) c.696-360G>C (n.696-360G>C) c.*539G>C (n.*539G>C) c.900G>C (p.Glu300Asp) c.912G>C (p.Glu304Asp) c.136-360G>C c.136-141G>C n.948G>C n.368G>C c.831G>C (p.Glu277Asp) | |
11 | g.2166909C>T | CA472414315 | TH | c.819G>A (p.Glu273=) c.*508G>A (n.*508G>A) c.696-360G>A (n.696-360G>A) c.*539G>A (n.*539G>A) c.900G>A (p.Glu300=) c.912G>A (p.Glu304=) c.136-360G>A c.136-141G>A n.948G>A n.368G>A c.831G>A (p.Glu277=) | dbSNP gnomAD v2 |
11 | g.2166910T>A | CA379126567 | TH | c.818A>T (p.Glu273Val) c.*507A>T (n.*507A>T) c.696-361A>T (n.696-361A>T) c.*538A>T (n.*538A>T) c.899A>T (p.Glu300Val) c.911A>T (p.Glu304Val) c.136-361A>T c.136-142A>T n.947A>T n.367A>T c.830A>T (p.Glu277Val) | |
11 | g.2166910T>C | CA379126568 | TH | c.818A>G (p.Glu273Gly) c.*507A>G (n.*507A>G) c.696-361A>G (n.696-361A>G) c.*538A>G (n.*538A>G) c.899A>G (p.Glu300Gly) c.911A>G (p.Glu304Gly) c.136-361A>G c.136-142A>G n.947A>G n.367A>G c.830A>G (p.Glu277Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166910T>G | CA379126569 | TH | c.818A>C (p.Glu273Ala) c.*507A>C (n.*507A>C) c.696-361A>C (n.696-361A>C) c.*538A>C (n.*538A>C) c.899A>C (p.Glu300Ala) c.911A>C (p.Glu304Ala) c.136-361A>C c.136-142A>C n.947A>C n.367A>C c.830A>C (p.Glu277Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.2166910T= | CA1948005808 | TH | c.818A= (p.Glu273=) c.*507A= (n.*507A=) c.696-361A= (n.696-361A=) c.*538A= (n.*538A=) c.899A= (p.Glu300=) c.911A= (p.Glu304=) c.136-361A= c.136-142A= n.947A= n.367A= c.830A= (p.Glu277=) | |
11 | g.2166911C>A | CA379126571 | TH | c.817G>T (p.Glu273Ter) c.*506G>T (n.*506G>T) c.696-362G>T (n.696-362G>T) c.*537G>T (n.*537G>T) c.898G>T (p.Glu300Ter) c.910G>T (p.Glu304Ter) c.136-362G>T c.136-143G>T n.946G>T n.366G>T c.829G>T (p.Glu277Ter) | gnomAD v4 COSMIC |
11 | g.2166911C>G | CA379126573 | TH | c.817G>C (p.Glu273Gln) c.*506G>C (n.*506G>C) c.696-362G>C (n.696-362G>C) c.*537G>C (n.*537G>C) c.898G>C (p.Glu300Gln) c.910G>C (p.Glu304Gln) c.136-362G>C c.136-143G>C n.946G>C n.366G>C c.829G>C (p.Glu277Gln) | |
11 | g.2166911C>T | CA379126575 | TH | c.817G>A (p.Glu273Lys) c.*506G>A (n.*506G>A) c.696-362G>A (n.696-362G>A) c.*537G>A (n.*537G>A) c.898G>A (p.Glu300Lys) c.910G>A (p.Glu304Lys) c.136-362G>A c.136-143G>A n.946G>A n.366G>A c.829G>A (p.Glu277Lys) | |
11 | g.2166912C>A | CA472414317 | TH | c.816G>T (p.Leu272=) c.*505G>T (n.*505G>T) c.696-363G>T (n.696-363G>T) c.*536G>T (n.*536G>T) c.897G>T (p.Leu299=) c.909G>T (p.Leu303=) c.136-363G>T c.136-144G>T n.945G>T n.365G>T c.828G>T (p.Leu276=) | gnomAD v4 |
11 | g.2166912C= | CA1948005811 | TH | c.816G= (p.Leu272=) c.*505G= (n.*505G=) c.696-363G= (n.696-363G=) c.*536G= (n.*536G=) c.897G= (p.Leu299=) c.909G= (p.Leu303=) c.136-363G= c.136-144G= n.945G= n.365G= c.828G= (p.Leu276=) | |
11 | g.2166912C>G | CA472414316 | TH | c.816G>C (p.Leu272=) c.*505G>C (n.*505G>C) c.696-363G>C (n.696-363G>C) c.*536G>C (n.*536G>C) c.897G>C (p.Leu299=) c.909G>C (p.Leu303=) c.136-363G>C c.136-144G>C n.945G>C n.365G>C c.828G>C (p.Leu276=) | |
11 | g.2166912C>T | CA5818481 | TH | c.816G>A (p.Leu272=) c.*505G>A (n.*505G>A) c.696-363G>A (n.696-363G>A) c.*536G>A (n.*536G>A) c.897G>A (p.Leu299=) c.909G>A (p.Leu303=) c.136-363G>A c.136-144G>A n.945G>A n.365G>A c.828G>A (p.Leu276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166913A= | CA1948005814 | TH | c.815T= (p.Leu272=) c.*504T= (n.*504T=) c.696-364T= (n.696-364T=) c.*535T= (n.*535T=) c.896T= (p.Leu299=) c.908T= (p.Leu303=) c.136-364T= c.136-145T= n.944T= n.364T= c.827T= (p.Leu276=) | |
11 | g.2166913A>C | CA5818482 | TH | c.815T>G (p.Leu272Arg) c.*504T>G (n.*504T>G) c.696-364T>G (n.696-364T>G) c.*535T>G (n.*535T>G) c.896T>G (p.Leu299Arg) c.908T>G (p.Leu303Arg) c.136-364T>G c.136-145T>G n.944T>G n.364T>G c.827T>G (p.Leu276Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166913A>G | CA379126595 | TH | c.815T>C (p.Leu272Pro) c.*504T>C (n.*504T>C) c.696-364T>C (n.696-364T>C) c.*535T>C (n.*535T>C) c.896T>C (p.Leu299Pro) c.908T>C (p.Leu303Pro) c.136-364T>C c.136-145T>C n.944T>C n.364T>C c.827T>C (p.Leu276Pro) | gnomAD v4 |
11 | g.2166913A>T | CA379126596 | TH | c.815T>A (p.Leu272Gln) c.*504T>A (n.*504T>A) c.696-364T>A (n.696-364T>A) c.*535T>A (n.*535T>A) c.896T>A (p.Leu299Gln) c.908T>A (p.Leu303Gln) c.136-364T>A c.136-145T>A n.944T>A n.364T>A c.827T>A (p.Leu276Gln) | |
11 | g.2166914G>A | CA472414318 | TH | c.814C>T (p.Leu272=) c.*503C>T (n.*503C>T) c.696-365C>T (n.696-365C>T) c.*534C>T (n.*534C>T) c.895C>T (p.Leu299=) c.907C>T (p.Leu303=) c.136-365C>T c.136-146C>T n.943C>T n.363C>T c.826C>T (p.Leu276=) | |
11 | g.2166914G>C | CA379126598 | TH | c.814C>G (p.Leu272Val) c.*503C>G (n.*503C>G) c.696-365C>G (n.696-365C>G) c.*534C>G (n.*534C>G) c.895C>G (p.Leu299Val) c.907C>G (p.Leu303Val) c.136-365C>G c.136-146C>G n.943C>G n.363C>G c.826C>G (p.Leu276Val) | gnomAD v4 |
11 | g.2166914G>T | CA379126600 | TH | c.814C>A (p.Leu272Met) c.*503C>A (n.*503C>A) c.696-365C>A (n.696-365C>A) c.*534C>A (n.*534C>A) c.895C>A (p.Leu299Met) c.907C>A (p.Leu303Met) c.136-365C>A c.136-146C>A n.943C>A n.363C>A c.826C>A (p.Leu276Met) | gnomAD v4 |
11 | g.2166915C>A | CA379126602 | TH | c.813G>T (p.Gln271His) c.*502G>T (n.*502G>T) c.696-366G>T (n.696-366G>T) c.*533G>T (n.*533G>T) c.894G>T (p.Gln298His) c.906G>T (p.Gln302His) c.136-366G>T c.136-147G>T n.942G>T n.362G>T c.825G>T (p.Gln275His) | |
11 | g.2166915C>G | CA379126604 | TH | c.813G>C (p.Gln271His) c.*502G>C (n.*502G>C) c.696-366G>C (n.696-366G>C) c.*533G>C (n.*533G>C) c.894G>C (p.Gln298His) c.906G>C (p.Gln302His) c.136-366G>C c.136-147G>C n.942G>C n.362G>C c.825G>C (p.Gln275His) | |
11 | g.2166915C>T | CA472414319 | TH | c.813G>A (p.Gln271=) c.*502G>A (n.*502G>A) c.696-366G>A (n.696-366G>A) c.*533G>A (n.*533G>A) c.894G>A (p.Gln298=) c.906G>A (p.Gln302=) c.136-366G>A c.136-147G>A n.942G>A n.362G>A c.825G>A (p.Gln275=) | |
11 | g.2166916T>A | CA379126607 | TH | c.812A>T (p.Gln271Leu) c.*501A>T (n.*501A>T) c.696-367A>T (n.696-367A>T) c.*532A>T (n.*532A>T) c.893A>T (p.Gln298Leu) c.905A>T (p.Gln302Leu) c.136-367A>T c.136-148A>T n.941A>T n.361A>T c.824A>T (p.Gln275Leu) | |
11 | g.2166916T>C | CA379126609 | TH | c.812A>G (p.Gln271Arg) c.*501A>G (n.*501A>G) c.696-367A>G (n.696-367A>G) c.*532A>G (n.*532A>G) c.893A>G (p.Gln298Arg) c.905A>G (p.Gln302Arg) c.136-367A>G c.136-148A>G n.941A>G n.361A>G c.824A>G (p.Gln275Arg) | |
11 | g.2166916T>G | CA379126610 | TH | c.812A>C (p.Gln271Pro) c.*501A>C (n.*501A>C) c.696-367A>C (n.696-367A>C) c.*532A>C (n.*532A>C) c.893A>C (p.Gln298Pro) c.905A>C (p.Gln302Pro) c.136-367A>C c.136-148A>C n.941A>C n.361A>C c.824A>C (p.Gln275Pro) | |
11 | g.2166917G>A | CA379126612 | TH | c.811C>T (p.Gln271Ter) c.*500C>T (n.*500C>T) c.696-368C>T (n.696-368C>T) c.*531C>T (n.*531C>T) c.892C>T (p.Gln298Ter) c.904C>T (p.Gln302Ter) c.136-368C>T c.136-149C>T n.940C>T n.360C>T c.823C>T (p.Gln275Ter) | ClinVar gnomAD v4 |
11 | g.2166917G>C | CA379126614 | TH | c.811C>G (p.Gln271Glu) c.*500C>G (n.*500C>G) c.696-368C>G (n.696-368C>G) c.*531C>G (n.*531C>G) c.892C>G (p.Gln298Glu) c.904C>G (p.Gln302Glu) c.136-368C>G c.136-149C>G n.940C>G n.360C>G c.823C>G (p.Gln275Glu) | |
11 | g.2166917G>T | CA379126615 | TH | c.811C>A (p.Gln271Lys) c.*500C>A (n.*500C>A) c.696-368C>A (n.696-368C>A) c.*531C>A (n.*531C>A) c.892C>A (p.Gln298Lys) c.904C>A (p.Gln302Lys) c.136-368C>A c.136-149C>A n.940C>A n.360C>A c.823C>A (p.Gln275Lys) | |
11 | g.2166921del | CA2611964347 | TH | c.811del (p.Gln271SerfsTer9) c.*500del (n.*500del) c.696-368del (n.696-368del) c.*531del (n.*531del) c.892del (p.Gln298SerfsTer9) c.904del (p.Gln302SerfsTer9) c.136-368del c.136-149del n.940del n.360del c.823del (p.Gln275SerfsTer9) | gnomAD v4 |
11 | g.2166918G>A | CA472414320 | TH | c.810C>T (p.Pro270=) c.*499C>T (n.*499C>T) c.696-369C>T (n.696-369C>T) c.*530C>T (n.*530C>T) c.891C>T (p.Pro297=) c.903C>T (p.Pro301=) c.136-369C>T c.136-150C>T n.939C>T n.359C>T c.822C>T (p.Pro274=) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.2166918G>C | CA472414321 | TH | c.810C>G (p.Pro270=) c.*499C>G (n.*499C>G) c.696-369C>G (n.696-369C>G) c.*530C>G (n.*530C>G) c.891C>G (p.Pro297=) c.903C>G (p.Pro301=) c.136-369C>G c.136-150C>G n.939C>G n.359C>G c.822C>G (p.Pro274=) | ClinVar dbSNP gnomAD v4 |
11 | g.2166918G= | CA1948005817 | TH | c.810C= (p.Pro270=) c.*499C= (n.*499C=) c.696-369C= (n.696-369C=) c.*530C= (n.*530C=) c.891C= (p.Pro297=) c.903C= (p.Pro301=) c.136-369C= c.136-150C= n.939C= n.359C= c.822C= (p.Pro274=) | |
11 | g.2166918G>T | CA472414322 | TH | c.810C>A (p.Pro270=) c.*499C>A (n.*499C>A) c.696-369C>A (n.696-369C>A) c.*530C>A (n.*530C>A) c.891C>A (p.Pro297=) c.903C>A (p.Pro301=) c.136-369C>A c.136-150C>A n.939C>A n.359C>A c.822C>A (p.Pro274=) | gnomAD v4 |
11 | g.2166919G>A | CA379126616 | TH | c.809C>T (p.Pro270Leu) c.*498C>T (n.*498C>T) c.696-370C>T (n.696-370C>T) c.*529C>T (n.*529C>T) c.890C>T (p.Pro297Leu) c.902C>T (p.Pro301Leu) c.136-370C>T c.136-151C>T n.938C>T n.358C>T c.821C>T (p.Pro274Leu) | |
11 | g.2166919G>C | CA5818483 | TH | c.809C>G (p.Pro270Arg) c.*498C>G (n.*498C>G) c.696-370C>G (n.696-370C>G) c.*529C>G (n.*529C>G) c.890C>G (p.Pro297Arg) c.902C>G (p.Pro301Arg) c.136-370C>G c.136-151C>G n.938C>G n.358C>G c.821C>G (p.Pro274Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166919G= | CA1948005819 | TH | c.809C= (p.Pro270=) c.*498C= (n.*498C=) c.696-370C= (n.696-370C=) c.*529C= (n.*529C=) c.890C= (p.Pro297=) c.902C= (p.Pro301=) c.136-370C= c.136-151C= n.938C= n.358C= c.821C= (p.Pro274=) | |
11 | g.2166919G>T | CA379126618 | TH | c.809C>A (p.Pro270His) c.*498C>A (n.*498C>A) c.696-370C>A (n.696-370C>A) c.*529C>A (n.*529C>A) c.890C>A (p.Pro297His) c.902C>A (p.Pro301His) c.136-370C>A c.136-151C>A n.938C>A n.358C>A c.821C>A (p.Pro274His) | gnomAD v4 |
11 | g.2166920G>A | CA379126620 | TH | c.808C>T (p.Pro270Ser) c.*497C>T (n.*497C>T) c.696-371C>T (n.696-371C>T) c.*528C>T (n.*528C>T) c.889C>T (p.Pro297Ser) c.901C>T (p.Pro301Ser) c.136-371C>T c.136-152C>T n.937C>T n.357C>T c.820C>T (p.Pro274Ser) | |
11 | g.2166920G>C | CA379126622 | TH | c.808C>G (p.Pro270Ala) c.*497C>G (n.*497C>G) c.696-371C>G (n.696-371C>G) c.*528C>G (n.*528C>G) c.889C>G (p.Pro297Ala) c.901C>G (p.Pro301Ala) c.136-371C>G c.136-152C>G n.937C>G n.357C>G c.820C>G (p.Pro274Ala) | |
11 | g.2166920G>T | CA379126624 | TH | c.808C>A (p.Pro270Thr) c.*497C>A (n.*497C>A) c.696-371C>A (n.696-371C>A) c.*528C>A (n.*528C>A) c.889C>A (p.Pro297Thr) c.901C>A (p.Pro301Thr) c.136-371C>A c.136-152C>A n.937C>A n.357C>A c.820C>A (p.Pro274Thr) | |
11 | g.2166921G>A | CA472414323 | TH | c.807C>T (p.Ile269=) c.*496C>T (n.*496C>T) c.696-372C>T (n.696-372C>T) c.*527C>T (n.*527C>T) c.888C>T (p.Ile296=) c.900C>T (p.Ile300=) c.136-372C>T c.136-153C>T n.936C>T n.356C>T c.819C>T (p.Ile273=) | ClinVar dbSNP gnomAD v4 |
11 | g.2166921G>C | CA5818484 | TH | c.807C>G (p.Ile269Met) c.*496C>G (n.*496C>G) c.696-372C>G (n.696-372C>G) c.*527C>G (n.*527C>G) c.888C>G (p.Ile296Met) c.900C>G (p.Ile300Met) c.136-372C>G c.136-153C>G n.936C>G n.356C>G c.819C>G (p.Ile273Met) | dbSNP ExAC gnomAD v2 |
11 | g.2166921G= | CA1948005821 | TH | c.807C= (p.Ile269=) c.*496C= (n.*496C=) c.696-372C= (n.696-372C=) c.*527C= (n.*527C=) c.888C= (p.Ile296=) c.900C= (p.Ile300=) c.136-372C= c.136-153C= n.936C= n.356C= c.819C= (p.Ile273=) | |
11 | g.2166921G>T | CA472414324 | TH | c.807C>A (p.Ile269=) c.*496C>A (n.*496C>A) c.696-372C>A (n.696-372C>A) c.*527C>A (n.*527C>A) c.888C>A (p.Ile296=) c.900C>A (p.Ile300=) c.136-372C>A c.136-153C>A n.936C>A n.356C>A c.819C>A (p.Ile273=) | ClinVar dbSNP gnomAD v4 |
11 | g.2166922A>C | CA379126632 | TH | c.806T>G (p.Ile269Ser) c.*495T>G (n.*495T>G) c.696-373T>G (n.696-373T>G) c.*526T>G (n.*526T>G) c.887T>G (p.Ile296Ser) c.899T>G (p.Ile300Ser) c.136-373T>G c.136-154T>G n.935T>G n.355T>G c.818T>G (p.Ile273Ser) | |
11 | g.2166922A>G | CA379126628 | TH | c.806T>C (p.Ile269Thr) c.*495T>C (n.*495T>C) c.696-373T>C (n.696-373T>C) c.*526T>C (n.*526T>C) c.887T>C (p.Ile296Thr) c.899T>C (p.Ile300Thr) c.136-373T>C c.136-154T>C n.935T>C n.355T>C c.818T>C (p.Ile273Thr) | |
11 | g.2166922A>T | CA379126630 | TH | c.806T>A (p.Ile269Asn) c.*495T>A (n.*495T>A) c.696-373T>A (n.696-373T>A) c.*526T>A (n.*526T>A) c.887T>A (p.Ile296Asn) c.899T>A (p.Ile300Asn) c.136-373T>A c.136-154T>A n.935T>A n.355T>A c.818T>A (p.Ile273Asn) | gnomAD v4 |
11 | g.2166923T>A | CA379126634 | TH | c.805A>T (p.Ile269Phe) c.*494A>T (n.*494A>T) c.696-374A>T (n.696-374A>T) c.*525A>T (n.*525A>T) c.886A>T (p.Ile296Phe) c.898A>T (p.Ile300Phe) c.136-374A>T c.136-155A>T n.934A>T n.354A>T c.817A>T (p.Ile273Phe) | |
11 | g.2166923T>C | CA379126636 | TH | c.805A>G (p.Ile269Val) c.*494A>G (n.*494A>G) c.696-374A>G (n.696-374A>G) c.*525A>G (n.*525A>G) c.886A>G (p.Ile296Val) c.898A>G (p.Ile300Val) c.136-374A>G c.136-155A>G n.934A>G n.354A>G c.817A>G (p.Ile273Val) | |
11 | g.2166923T>G | CA379126638 | TH | c.805A>C (p.Ile269Leu) c.*494A>C (n.*494A>C) c.696-374A>C (n.696-374A>C) c.*525A>C (n.*525A>C) c.886A>C (p.Ile296Leu) c.898A>C (p.Ile300Leu) c.136-374A>C c.136-155A>C n.934A>C n.354A>C c.817A>C (p.Ile273Leu) | |
11 | g.2166924A= | CA1948005823 | TH | c.804T= (p.Asn268=) c.*493T= (n.*493T=) c.696-375T= (n.696-375T=) c.*524T= (n.*524T=) c.885T= (p.Asn295=) c.897T= (p.Asn299=) c.136-375T= c.136-156T= n.933T= n.353T= c.816T= (p.Asn272=) | |
11 | g.2166924A>C | CA379126640 | TH | c.804T>G (p.Asn268Lys) c.*493T>G (n.*493T>G) c.696-375T>G (n.696-375T>G) c.*524T>G (n.*524T>G) c.885T>G (p.Asn295Lys) c.897T>G (p.Asn299Lys) c.136-375T>G c.136-156T>G n.933T>G n.353T>G c.816T>G (p.Asn272Lys) | |
11 | g.2166924A>G | CA472414325 | TH | c.804T>C (p.Asn268=) c.*493T>C (n.*493T>C) c.696-375T>C (n.696-375T>C) c.*524T>C (n.*524T>C) c.885T>C (p.Asn295=) c.897T>C (p.Asn299=) c.136-375T>C c.136-156T>C n.933T>C n.353T>C c.816T>C (p.Asn272=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166924A>T | CA379126641 | TH | c.804T>A (p.Asn268Lys) c.*493T>A (n.*493T>A) c.696-375T>A (n.696-375T>A) c.*524T>A (n.*524T>A) c.885T>A (p.Asn295Lys) c.897T>A (p.Asn299Lys) c.136-375T>A c.136-156T>A n.933T>A n.353T>A c.816T>A (p.Asn272Lys) | |
11 | g.2166925T>A | CA379126647 | TH | c.803A>T (p.Asn268Ile) c.*492A>T (n.*492A>T) c.696-376A>T (n.696-376A>T) c.*523A>T (n.*523A>T) c.884A>T (p.Asn295Ile) c.896A>T (p.Asn299Ile) c.136-376A>T c.136-157A>T n.932A>T n.352A>T c.815A>T (p.Asn272Ile) | gnomAD v4 |
11 | g.2166925T>C | CA379126643 | TH | c.803A>G (p.Asn268Ser) c.*492A>G (n.*492A>G) c.696-376A>G (n.696-376A>G) c.*523A>G (n.*523A>G) c.884A>G (p.Asn295Ser) c.896A>G (p.Asn299Ser) c.136-376A>G c.136-157A>G n.932A>G n.352A>G c.815A>G (p.Asn272Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166925T>G | CA379126645 | TH | c.803A>C (p.Asn268Thr) c.*492A>C (n.*492A>C) c.696-376A>C (n.696-376A>C) c.*523A>C (n.*523A>C) c.884A>C (p.Asn295Thr) c.896A>C (p.Asn299Thr) c.136-376A>C c.136-157A>C n.932A>C n.352A>C c.815A>C (p.Asn272Thr) | |
11 | g.2166925T= | CA1948005825 | TH | c.803A= (p.Asn268=) c.*492A= (n.*492A=) c.696-376A= (n.696-376A=) c.*523A= (n.*523A=) c.884A= (p.Asn295=) c.896A= (p.Asn299=) c.136-376A= c.136-157A= n.932A= n.352A= c.815A= (p.Asn272=) | |
11 | g.2166927_2166931dup | CA2611964395 | TH | c.799_803dup (p.Asn268LysfsTer14) c.*488_*492dup (n.*488_*492dup) c.696-380_696-376dup (n.696-380_696-376dup) c.*519_*523dup (n.*519_*523dup) c.880_884dup (p.Asn295LysfsTer14) c.892_896dup (p.Asn299LysfsTer14) c.136-380_136-376dup c.136-161_136-157dup n.928_932dup n.348_352dup c.811_815dup (p.Asn272LysfsTer14) | gnomAD v4 |
11 | g.2166926T>A | CA379126649 | TH | c.802A>T (p.Asn268Tyr) c.*491A>T (n.*491A>T) c.696-377A>T (n.696-377A>T) c.*522A>T (n.*522A>T) c.883A>T (p.Asn295Tyr) c.895A>T (p.Asn299Tyr) c.136-377A>T c.136-158A>T n.931A>T n.351A>T c.814A>T (p.Asn272Tyr) | |
11 | g.2166926T>C | CA379126651 | TH | c.802A>G (p.Asn268Asp) c.*491A>G (n.*491A>G) c.696-377A>G (n.696-377A>G) c.*522A>G (n.*522A>G) c.883A>G (p.Asn295Asp) c.895A>G (p.Asn299Asp) c.136-377A>G c.136-158A>G n.931A>G n.351A>G c.814A>G (p.Asn272Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166926T>G | CA379126653 | TH | c.802A>C (p.Asn268His) c.*491A>C (n.*491A>C) c.696-377A>C (n.696-377A>C) c.*522A>C (n.*522A>C) c.883A>C (p.Asn295His) c.895A>C (p.Asn299His) c.136-377A>C c.136-158A>C n.931A>C n.351A>C c.814A>C (p.Asn272His) | |
11 | g.2166926T= | CA1948005828 | TH | c.802A= (p.Asn268=) c.*491A= (n.*491A=) c.696-377A= (n.696-377A=) c.*522A= (n.*522A=) c.883A= (p.Asn295=) c.895A= (p.Asn299=) c.136-377A= c.136-158A= n.931A= n.351A= c.814A= (p.Asn272=) | |
11 | g.2166927G>A | CA472414326 | TH | c.801C>T (p.Asp267=) c.*490C>T (n.*490C>T) c.696-378C>T (n.696-378C>T) c.*521C>T (n.*521C>T) c.882C>T (p.Asp294=) c.894C>T (p.Asp298=) c.136-378C>T c.136-159C>T n.930C>T n.350C>T c.813C>T (p.Asp271=) | gnomAD v4 |
11 | g.2166927G>C | CA379126655 | TH | c.801C>G (p.Asp267Glu) c.*490C>G (n.*490C>G) c.696-378C>G (n.696-378C>G) c.*521C>G (n.*521C>G) c.882C>G (p.Asp294Glu) c.894C>G (p.Asp298Glu) c.136-378C>G c.136-159C>G n.930C>G n.350C>G c.813C>G (p.Asp271Glu) | |
11 | g.2166927G>T | CA379126657 | TH | c.801C>A (p.Asp267Glu) c.*490C>A (n.*490C>A) c.696-378C>A (n.696-378C>A) c.*521C>A (n.*521C>A) c.882C>A (p.Asp294Glu) c.894C>A (p.Asp298Glu) c.136-378C>A c.136-159C>A n.930C>A n.350C>A c.813C>A (p.Asp271Glu) | |
11 | g.2166928T>A | CA379126660 | TH | c.800A>T (p.Asp267Val) c.*489A>T (n.*489A>T) c.696-379A>T (n.696-379A>T) c.*520A>T (n.*520A>T) c.881A>T (p.Asp294Val) c.893A>T (p.Asp298Val) c.136-379A>T c.136-160A>T n.929A>T n.349A>T c.812A>T (p.Asp271Val) | |
11 | g.2166928T>C | CA379126664 | TH | c.800A>G (p.Asp267Gly) c.*489A>G (n.*489A>G) c.696-379A>G (n.696-379A>G) c.*520A>G (n.*520A>G) c.881A>G (p.Asp294Gly) c.893A>G (p.Asp298Gly) c.136-379A>G c.136-160A>G n.929A>G n.349A>G c.812A>G (p.Asp271Gly) | |
11 | g.2166928T>G | CA379126662 | TH | c.800A>C (p.Asp267Ala) c.*489A>C (n.*489A>C) c.696-379A>C (n.696-379A>C) c.*520A>C (n.*520A>C) c.881A>C (p.Asp294Ala) c.893A>C (p.Asp298Ala) c.136-379A>C c.136-160A>C n.929A>C n.349A>C c.812A>C (p.Asp271Ala) | |
11 | g.2166929C>A | CA379126666 | TH | c.799G>T (p.Asp267Tyr) c.*488G>T (n.*488G>T) c.696-380G>T (n.696-380G>T) c.*519G>T (n.*519G>T) c.880G>T (p.Asp294Tyr) c.892G>T (p.Asp298Tyr) c.136-380G>T c.136-161G>T n.928G>T n.348G>T c.811G>T (p.Asp271Tyr) | gnomAD v4 |
11 | g.2166929C= | CA1948005833 | TH | c.799G= (p.Asp267=) c.*488G= (n.*488G=) c.696-380G= (n.696-380G=) c.*519G= (n.*519G=) c.880G= (p.Asp294=) c.892G= (p.Asp298=) c.136-380G= c.136-161G= n.928G= n.348G= c.811G= (p.Asp271=) | |
11 | g.2166929C>G | CA16606213 | TH | c.799G>C (p.Asp267His) c.*488G>C (n.*488G>C) c.696-380G>C (n.696-380G>C) c.*519G>C (n.*519G>C) c.880G>C (p.Asp294His) c.892G>C (p.Asp298His) c.136-380G>C c.136-161G>C n.928G>C n.348G>C c.811G>C (p.Asp271His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166929C>T | CA379126669 | TH | c.799G>A (p.Asp267Asn) c.*488G>A (n.*488G>A) c.696-380G>A (n.696-380G>A) c.*519G>A (n.*519G>A) c.880G>A (p.Asp294Asn) c.892G>A (p.Asp298Asn) c.136-380G>A c.136-161G>A n.928G>A n.348G>A c.811G>A (p.Asp271Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166929_2166930delinsCT | CA1948005836 | TH | c.798_799delinsAG (p.Glu266=) c.*487_*488delinsAG (n.*487_*488delinsAG) c.696-381_696-380delinsAG (n.696-381_696-380delinsAG) c.*518_*519delinsAG (n.*518_*519delinsAG) c.879_880delinsAG (p.Glu293=) c.891_892delinsAG (p.Glu297=) c.136-381_136-380delinsAG c.136-162_136-161delinsAG n.927_928delinsAG n.347_348delinsAG c.810_811delinsAG (p.Glu270=) | |
11 | g.2166930T>A | CA379126671 | TH | c.798A>T (p.Glu266Asp) c.*487A>T (n.*487A>T) c.696-381A>T (n.696-381A>T) c.*518A>T (n.*518A>T) c.879A>T (p.Glu293Asp) c.891A>T (p.Glu297Asp) c.136-381A>T c.136-162A>T n.927A>T n.347A>T c.810A>T (p.Glu270Asp) | |
11 | g.2166930T>C | CA472414327 | TH | c.798A>G (p.Glu266=) c.*487A>G (n.*487A>G) c.696-381A>G (n.696-381A>G) c.*518A>G (n.*518A>G) c.879A>G (p.Glu293=) c.891A>G (p.Glu297=) c.136-381A>G c.136-162A>G n.927A>G n.347A>G c.810A>G (p.Glu270=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166930T>G | CA379126673 | TH | c.798A>C (p.Glu266Asp) c.*487A>C (n.*487A>C) c.696-381A>C (n.696-381A>C) c.*518A>C (n.*518A>C) c.879A>C (p.Glu293Asp) c.891A>C (p.Glu297Asp) c.136-381A>C c.136-162A>C n.927A>C n.347A>C c.810A>C (p.Glu270Asp) | COSMIC |
11 | g.2166930T= | CA1948005839 | TH | c.798A= (p.Glu266=) c.*487A= (n.*487A=) c.696-381A= (n.696-381A=) c.*518A= (n.*518A=) c.879A= (p.Glu293=) c.891A= (p.Glu297=) c.136-381A= c.136-162A= n.927A= n.347A= c.810A= (p.Glu270=) | |
11 | g.2166931del | CA934419400 | TH | c.798del (p.Asp267ThrfsTer13) c.*487del (n.*487del) c.696-381del (n.696-381del) c.*518del (n.*518del) c.879del (p.Asp294ThrfsTer13) c.891del (p.Asp298ThrfsTer13) c.136-381del c.136-162del n.927del n.347del c.810del (p.Asp271ThrfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166931T>A | CA379126675 | TH | c.797A>T (p.Glu266Val) c.*486A>T (n.*486A>T) c.696-382A>T (n.696-382A>T) c.*517A>T (n.*517A>T) c.878A>T (p.Glu293Val) c.890A>T (p.Glu297Val) c.136-382A>T c.136-163A>T n.926A>T n.346A>T c.809A>T (p.Glu270Val) | |
11 | g.2166931T>C | CA379126678 | TH | c.797A>G (p.Glu266Gly) c.*486A>G (n.*486A>G) c.696-382A>G (n.696-382A>G) c.*517A>G (n.*517A>G) c.878A>G (p.Glu293Gly) c.890A>G (p.Glu297Gly) c.136-382A>G c.136-163A>G n.926A>G n.346A>G c.809A>G (p.Glu270Gly) | |
11 | g.2166931T>G | CA379126680 | TH | c.797A>C (p.Glu266Ala) c.*486A>C (n.*486A>C) c.696-382A>C (n.696-382A>C) c.*517A>C (n.*517A>C) c.878A>C (p.Glu293Ala) c.890A>C (p.Glu297Ala) c.136-382A>C c.136-163A>C n.926A>C n.346A>C c.809A>C (p.Glu270Ala) | |
11 | g.2166932C>A | CA379126684 | TH | c.796G>T (p.Glu266Ter) c.*485G>T (n.*485G>T) c.696-383G>T (n.696-383G>T) c.*516G>T (n.*516G>T) c.877G>T (p.Glu293Ter) c.889G>T (p.Glu297Ter) c.136-383G>T c.136-164G>T n.925G>T n.345G>T c.808G>T (p.Glu270Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.2166932C= | CA1948005845 | TH | c.796G= (p.Glu266=) c.*485G= (n.*485G=) c.696-383G= (n.696-383G=) c.*516G= (n.*516G=) c.877G= (p.Glu293=) c.889G= (p.Glu297=) c.136-383G= c.136-164G= n.925G= n.345G= c.808G= (p.Glu270=) | |
11 | g.2166932C>G | CA379126685 | TH | c.796G>C (p.Glu266Gln) c.*485G>C (n.*485G>C) c.696-383G>C (n.696-383G>C) c.*516G>C (n.*516G>C) c.877G>C (p.Glu293Gln) c.889G>C (p.Glu297Gln) c.136-383G>C c.136-164G>C n.925G>C n.345G>C c.808G>C (p.Glu270Gln) | gnomAD v4 |
11 | g.2166932C>T | CA379126687 | TH | c.796G>A (p.Glu266Lys) c.*485G>A (n.*485G>A) c.696-383G>A (n.696-383G>A) c.*516G>A (n.*516G>A) c.877G>A (p.Glu293Lys) c.889G>A (p.Glu297Lys) c.136-383G>A c.136-164G>A n.925G>A n.345G>A c.808G>A (p.Glu270Lys) | |
11 | g.2166933C>A | CA472414328 | TH | c.795G>T (p.Arg265=) c.*484G>T (n.*484G>T) c.696-384G>T (n.696-384G>T) c.*515G>T (n.*515G>T) c.876G>T (p.Arg292=) c.888G>T (p.Arg296=) c.136-384G>T c.136-165G>T n.924G>T n.344G>T c.807G>T (p.Arg269=) | ClinVar dbSNP gnomAD v4 |
11 | g.2166933C= | CA1948005847 | TH | c.795G= (p.Arg265=) c.*484G= (n.*484G=) c.696-384G= (n.696-384G=) c.*515G= (n.*515G=) c.876G= (p.Arg292=) c.888G= (p.Arg296=) c.136-384G= c.136-165G= n.924G= n.344G= c.807G= (p.Arg269=) | |
11 | g.2166933C>G | CA472414329 | TH | c.795G>C (p.Arg265=) c.*484G>C (n.*484G>C) c.696-384G>C (n.696-384G>C) c.*515G>C (n.*515G>C) c.876G>C (p.Arg292=) c.888G>C (p.Arg296=) c.136-384G>C c.136-165G>C n.924G>C n.344G>C c.807G>C (p.Arg269=) | ClinVar |
11 | g.2166933C>T | CA5818485 | TH | c.795G>A (p.Arg265=) c.*484G>A (n.*484G>A) c.696-384G>A (n.696-384G>A) c.*515G>A (n.*515G>A) c.876G>A (p.Arg292=) c.888G>A (p.Arg296=) c.136-384G>A c.136-165G>A n.924G>A n.344G>A c.807G>A (p.Arg269=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166936_2166942dup | CA2695201060 | TH | c.789_795dup (p.Glu266LeufsTer?) c.*478_*484dup (n.*478_*484dup) c.696-390_696-384dup (n.696-390_696-384dup) c.*509_*515dup (n.*509_*515dup) c.870_876dup (p.Glu293LeufsTer?) c.882_888dup (p.Glu297LeufsTer?) c.136-390_136-384dup c.136-171_136-165dup n.918_924dup n.338_344dup c.801_807dup (p.Glu270LeufsTer?) | ClinVar |
11 | g.2166934C>A | CA379126692 | TH | c.794G>T (p.Arg265Leu) c.*483G>T (n.*483G>T) c.696-385G>T (n.696-385G>T) c.*514G>T (n.*514G>T) c.875G>T (p.Arg292Leu) c.887G>T (p.Arg296Leu) c.136-385G>T c.136-166G>T n.923G>T n.343G>T c.806G>T (p.Arg269Leu) | gnomAD v4 |
11 | g.2166934C= | CA1948005853 | TH | c.794G= (p.Arg265=) c.*483G= (n.*483G=) c.696-385G= (n.696-385G=) c.*514G= (n.*514G=) c.875G= (p.Arg292=) c.887G= (p.Arg296=) c.136-385G= c.136-166G= n.923G= n.343G= c.806G= (p.Arg269=) | |
11 | g.2166934C>G | CA379126696 | TH | c.794G>C (p.Arg265Pro) c.*483G>C (n.*483G>C) c.696-385G>C (n.696-385G>C) c.*514G>C (n.*514G>C) c.875G>C (p.Arg292Pro) c.887G>C (p.Arg296Pro) c.136-385G>C c.136-166G>C n.923G>C n.343G>C c.806G>C (p.Arg269Pro) | gnomAD v4 |
11 | g.2166934C>T | CA5818486 | TH | c.794G>A (p.Arg265Gln) c.*483G>A (n.*483G>A) c.696-385G>A (n.696-385G>A) c.*514G>A (n.*514G>A) c.875G>A (p.Arg292Gln) c.887G>A (p.Arg296Gln) c.136-385G>A c.136-166G>A n.923G>A n.343G>A c.806G>A (p.Arg269Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166935G>A | CA379126700 | TH | c.793C>T (p.Arg265Trp) c.*482C>T (n.*482C>T) c.696-386C>T (n.696-386C>T) c.*513C>T (n.*513C>T) c.874C>T (p.Arg292Trp) c.886C>T (p.Arg296Trp) c.136-386C>T c.136-167C>T n.922C>T n.342C>T c.805C>T (p.Arg269Trp) | gnomAD v4 |
11 | g.2166935G>C | CA379126702 | TH | c.793C>G (p.Arg265Gly) c.*482C>G (n.*482C>G) c.696-386C>G (n.696-386C>G) c.*513C>G (n.*513C>G) c.874C>G (p.Arg292Gly) c.886C>G (p.Arg296Gly) c.136-386C>G c.136-167C>G n.922C>G n.342C>G c.805C>G (p.Arg269Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166935G= | CA1948005858 | TH | c.793C= (p.Arg265=) c.*482C= (n.*482C=) c.696-386C= (n.696-386C=) c.*513C= (n.*513C=) c.874C= (p.Arg292=) c.886C= (p.Arg296=) c.136-386C= c.136-167C= n.922C= n.342C= c.805C= (p.Arg269=) | |
11 | g.2166935G>T | CA472414330 | TH | c.793C>A (p.Arg265=) c.*482C>A (n.*482C>A) c.696-386C>A (n.696-386C>A) c.*513C>A (n.*513C>A) c.874C>A (p.Arg292=) c.886C>A (p.Arg296=) c.136-386C>A c.136-167C>A n.922C>A n.342C>A c.805C>A (p.Arg269=) | gnomAD v4 |
11 | g.2166936G>A | CA5818488 | TH | c.792C>T (p.Tyr264=) c.*481C>T (n.*481C>T) c.696-387C>T (n.696-387C>T) c.*512C>T (n.*512C>T) c.873C>T (p.Tyr291=) c.885C>T (p.Tyr295=) c.136-387C>T c.136-168C>T n.921C>T n.341C>T c.804C>T (p.Tyr268=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166936G>C | CA379126704 | TH | c.792C>G (p.Tyr264Ter) c.*481C>G (n.*481C>G) c.696-387C>G (n.696-387C>G) c.*512C>G (n.*512C>G) c.873C>G (p.Tyr291Ter) c.885C>G (p.Tyr295Ter) c.136-387C>G c.136-168C>G n.921C>G n.341C>G c.804C>G (p.Tyr268Ter) | ClinVar |
11 | g.2166936G= | CA1948005861 | TH | c.792C= (p.Tyr264=) c.*481C= (n.*481C=) c.696-387C= (n.696-387C=) c.*512C= (n.*512C=) c.873C= (p.Tyr291=) c.885C= (p.Tyr295=) c.136-387C= c.136-168C= n.921C= n.341C= c.804C= (p.Tyr268=) | |
11 | g.2166936G>T | CA5818487 | TH | c.792C>A (p.Tyr264Ter) c.*481C>A (n.*481C>A) c.696-387C>A (n.696-387C>A) c.*512C>A (n.*512C>A) c.873C>A (p.Tyr291Ter) c.885C>A (p.Tyr295Ter) c.136-387C>A c.136-168C>A n.921C>A n.341C>A c.804C>A (p.Tyr268Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166937_2166942del | CA2611964483 | TH | c.787_792del (p.Gly263_Tyr264del) c.*476_*481del (n.*476_*481del) c.696-392_696-387del (n.696-392_696-387del) c.*507_*512del (n.*507_*512del) c.868_873del (p.Gly290_Tyr291del) c.880_885del (p.Gly294_Tyr295del) c.136-392_136-387del c.136-173_136-168del n.916_921del n.336_341del c.799_804del (p.Gly267_Tyr268del) | gnomAD v4 |
11 | g.2166937_2166945del | CA2611964486 | TH | c.784_792del (p.Ser262_Tyr264del) c.*473_*481del (n.*473_*481del) c.696-395_696-387del (n.696-395_696-387del) c.*504_*512del (n.*504_*512del) c.865_873del (p.Ser289_Tyr291del) c.877_885del (p.Ser293_Tyr295del) c.136-395_136-387del c.136-176_136-168del n.913_921del n.333_341del c.796_804del (p.Ser266_Tyr268del) | gnomAD v4 |
11 | g.2166937_2166956del | CA2611964487 | TH | c.773_792del (p.Leu258ProfsTer?) c.*462_*481del (n.*462_*481del) c.696-406_696-387del (n.696-406_696-387del) c.*493_*512del (n.*493_*512del) c.854_873del (p.Leu285ProfsTer?) c.866_885del (p.Leu289ProfsTer?) c.136-406_136-387del c.136-187_136-168del n.902_921del n.322_341del c.785_804del (p.Leu262ProfsTer?) | gnomAD v4 |
11 | g.2166937T>A | CA379126713 | TH | c.791A>T (p.Tyr264Phe) c.*480A>T (n.*480A>T) c.696-388A>T (n.696-388A>T) c.*511A>T (n.*511A>T) c.872A>T (p.Tyr291Phe) c.884A>T (p.Tyr295Phe) c.136-388A>T c.136-169A>T n.920A>T n.340A>T c.803A>T (p.Tyr268Phe) | |
11 | g.2166937T>C | CA379126711 | TH | c.791A>G (p.Tyr264Cys) c.*480A>G (n.*480A>G) c.696-388A>G (n.696-388A>G) c.*511A>G (n.*511A>G) c.872A>G (p.Tyr291Cys) c.884A>G (p.Tyr295Cys) c.136-388A>G c.136-169A>G n.920A>G n.340A>G c.803A>G (p.Tyr268Cys) | |
11 | g.2166937T>G | CA379126709 | TH | c.791A>C (p.Tyr264Ser) c.*480A>C (n.*480A>C) c.696-388A>C (n.696-388A>C) c.*511A>C (n.*511A>C) c.872A>C (p.Tyr291Ser) c.884A>C (p.Tyr295Ser) c.136-388A>C c.136-169A>C n.920A>C n.340A>C c.803A>C (p.Tyr268Ser) | |
11 | g.2166938A>C | CA379126715 | TH | c.790T>G (p.Tyr264Asp) c.*479T>G (n.*479T>G) c.696-389T>G (n.696-389T>G) c.*510T>G (n.*510T>G) c.871T>G (p.Tyr291Asp) c.883T>G (p.Tyr295Asp) c.136-389T>G c.136-170T>G n.919T>G n.339T>G c.802T>G (p.Tyr268Asp) | |
11 | g.2166938A>G | CA379126717 | TH | c.790T>C (p.Tyr264His) c.*479T>C (n.*479T>C) c.696-389T>C (n.696-389T>C) c.*510T>C (n.*510T>C) c.871T>C (p.Tyr291His) c.883T>C (p.Tyr295His) c.136-389T>C c.136-170T>C n.919T>C n.339T>C c.802T>C (p.Tyr268His) | |
11 | g.2166938A>T | CA379126719 | TH | c.790T>A (p.Tyr264Asn) c.*479T>A (n.*479T>A) c.696-389T>A (n.696-389T>A) c.*510T>A (n.*510T>A) c.871T>A (p.Tyr291Asn) c.883T>A (p.Tyr295Asn) c.136-389T>A c.136-170T>A n.919T>A n.339T>A c.802T>A (p.Tyr268Asn) | |
11 | g.2166939G>A | CA472414331 | TH | c.789C>T (p.Gly263=) c.*478C>T (n.*478C>T) c.696-390C>T (n.696-390C>T) c.*509C>T (n.*509C>T) c.870C>T (p.Gly290=) c.882C>T (p.Gly294=) c.136-390C>T c.136-171C>T n.918C>T n.338C>T c.801C>T (p.Gly267=) | dbSNP |
11 | g.2166939G>C | CA472414332 | TH | c.789C>G (p.Gly263=) c.*478C>G (n.*478C>G) c.696-390C>G (n.696-390C>G) c.*509C>G (n.*509C>G) c.870C>G (p.Gly290=) c.882C>G (p.Gly294=) c.136-390C>G c.136-171C>G n.918C>G n.338C>G c.801C>G (p.Gly267=) | |
11 | g.2166939G= | CA1948005865 | TH | c.789C= (p.Gly263=) c.*478C= (n.*478C=) c.696-390C= (n.696-390C=) c.*509C= (n.*509C=) c.870C= (p.Gly290=) c.882C= (p.Gly294=) c.136-390C= c.136-171C= n.918C= n.338C= c.801C= (p.Gly267=) | |
11 | g.2166939G>T | CA472414333 | TH | c.789C>A (p.Gly263=) c.*478C>A (n.*478C>A) c.696-390C>A (n.696-390C>A) c.*509C>A (n.*509C>A) c.870C>A (p.Gly290=) c.882C>A (p.Gly294=) c.136-390C>A c.136-171C>A n.918C>A n.338C>A c.801C>A (p.Gly267=) | |
11 | g.2166940C>A | CA379126722 | TH | c.788G>T (p.Gly263Val) c.*477G>T (n.*477G>T) c.696-391G>T (n.696-391G>T) c.*508G>T (n.*508G>T) c.869G>T (p.Gly290Val) c.881G>T (p.Gly294Val) c.136-391G>T c.136-172G>T n.917G>T n.337G>T c.800G>T (p.Gly267Val) | gnomAD v4 |
11 | g.2166940C>G | CA379126724 | TH | c.788G>C (p.Gly263Ala) c.*477G>C (n.*477G>C) c.696-391G>C (n.696-391G>C) c.*508G>C (n.*508G>C) c.869G>C (p.Gly290Ala) c.881G>C (p.Gly294Ala) c.136-391G>C c.136-172G>C n.917G>C n.337G>C c.800G>C (p.Gly267Ala) | |
11 | g.2166940C>T | CA379126726 | TH | c.788G>A (p.Gly263Asp) c.*477G>A (n.*477G>A) c.696-391G>A (n.696-391G>A) c.*508G>A (n.*508G>A) c.869G>A (p.Gly290Asp) c.881G>A (p.Gly294Asp) c.136-391G>A c.136-172G>A n.917G>A n.337G>A c.800G>A (p.Gly267Asp) | gnomAD v4 |
11 | g.2166941del | CA912971960 | TH | c.788del (p.Gly263AlafsTer17) c.*477del (n.*477del) c.696-391del (n.696-391del) c.*508del (n.*508del) c.869del (p.Gly290AlafsTer17) c.881del (p.Gly294AlafsTer17) c.136-391del c.136-172del n.917del n.337del c.800del (p.Gly267AlafsTer17) | ClinVar dbSNP gnomAD v4 |
11 | g.2166941C>A | CA379126728 | TH | c.787G>T (p.Gly263Cys) c.*476G>T (n.*476G>T) c.696-392G>T (n.696-392G>T) c.*507G>T (n.*507G>T) c.868G>T (p.Gly290Cys) c.880G>T (p.Gly294Cys) c.136-392G>T c.136-173G>T n.916G>T n.336G>T c.799G>T (p.Gly267Cys) | dbSNP gnomAD v2 |
11 | g.2166941C= | CA1948005870 | TH | c.787G= (p.Gly263=) c.*476G= (n.*476G=) c.696-392G= (n.696-392G=) c.*507G= (n.*507G=) c.868G= (p.Gly290=) c.880G= (p.Gly294=) c.136-392G= c.136-173G= n.916G= n.336G= c.799G= (p.Gly267=) | |
11 | g.2166941C>G | CA5818489 | TH | c.787G>C (p.Gly263Arg) c.*476G>C (n.*476G>C) c.696-392G>C (n.696-392G>C) c.*507G>C (n.*507G>C) c.868G>C (p.Gly290Arg) c.880G>C (p.Gly294Arg) c.136-392G>C c.136-173G>C n.916G>C n.336G>C c.799G>C (p.Gly267Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166941C>T | CA5818490 | TH | c.787G>A (p.Gly263Ser) c.*476G>A (n.*476G>A) c.696-392G>A (n.696-392G>A) c.*507G>A (n.*507G>A) c.868G>A (p.Gly290Ser) c.880G>A (p.Gly294Ser) c.136-392G>A c.136-173G>A n.916G>A n.336G>A c.799G>A (p.Gly267Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166942G>A | CA5818491 | TH | c.786C>T (p.Ser262=) c.*475C>T (n.*475C>T) c.696-393C>T (n.696-393C>T) c.*506C>T (n.*506C>T) c.867C>T (p.Ser289=) c.879C>T (p.Ser293=) c.136-393C>T c.136-174C>T n.915C>T n.335C>T c.798C>T (p.Ser266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166942G>C | CA379126735 | TH | c.786C>G (p.Ser262Arg) c.*475C>G (n.*475C>G) c.696-393C>G (n.696-393C>G) c.*506C>G (n.*506C>G) c.867C>G (p.Ser289Arg) c.879C>G (p.Ser293Arg) c.136-393C>G c.136-174C>G n.915C>G n.335C>G c.798C>G (p.Ser266Arg) | gnomAD v4 |
11 | g.2166942G= | CA1948005872 | TH | c.786C= (p.Ser262=) c.*475C= (n.*475C=) c.696-393C= (n.696-393C=) c.*506C= (n.*506C=) c.867C= (p.Ser289=) c.879C= (p.Ser293=) c.136-393C= c.136-174C= n.915C= n.335C= c.798C= (p.Ser266=) | |
11 | g.2166942G>T | CA379126737 | TH | c.786C>A (p.Ser262Arg) c.*475C>A (n.*475C>A) c.696-393C>A (n.696-393C>A) c.*506C>A (n.*506C>A) c.867C>A (p.Ser289Arg) c.879C>A (p.Ser293Arg) c.136-393C>A c.136-174C>A n.915C>A n.335C>A c.798C>A (p.Ser266Arg) | gnomAD v4 |
11 | g.2166943C>A | CA379126739 | TH | c.785G>T (p.Ser262Ile) c.*474G>T (n.*474G>T) c.696-394G>T (n.696-394G>T) c.*505G>T (n.*505G>T) c.866G>T (p.Ser289Ile) c.878G>T (p.Ser293Ile) c.136-394G>T c.136-175G>T n.914G>T n.334G>T c.797G>T (p.Ser266Ile) | |
11 | g.2166943C>G | CA379126742 | TH | c.785G>C (p.Ser262Thr) c.*474G>C (n.*474G>C) c.696-394G>C (n.696-394G>C) c.*505G>C (n.*505G>C) c.866G>C (p.Ser289Thr) c.878G>C (p.Ser293Thr) c.136-394G>C c.136-175G>C n.914G>C n.334G>C c.797G>C (p.Ser266Thr) | |
11 | g.2166943C>T | CA379126744 | TH | c.785G>A (p.Ser262Asn) c.*474G>A (n.*474G>A) c.696-394G>A (n.696-394G>A) c.*505G>A (n.*505G>A) c.866G>A (p.Ser289Asn) c.878G>A (p.Ser293Asn) c.136-394G>A c.136-175G>A n.914G>A n.334G>A c.797G>A (p.Ser266Asn) | |
11 | g.2166944T>A | CA379126746 | TH | c.784A>T (p.Ser262Cys) c.*473A>T (n.*473A>T) c.696-395A>T (n.696-395A>T) c.*504A>T (n.*504A>T) c.865A>T (p.Ser289Cys) c.877A>T (p.Ser293Cys) c.136-395A>T c.136-176A>T n.913A>T n.333A>T c.796A>T (p.Ser266Cys) | |
11 | g.2166944T>C | CA379126748 | TH | c.784A>G (p.Ser262Gly) c.*473A>G (n.*473A>G) c.696-395A>G (n.696-395A>G) c.*504A>G (n.*504A>G) c.865A>G (p.Ser289Gly) c.877A>G (p.Ser293Gly) c.136-395A>G c.136-176A>G n.913A>G n.333A>G c.796A>G (p.Ser266Gly) | |
11 | g.2166944T>G | CA379126751 | TH | c.784A>C (p.Ser262Arg) c.*473A>C (n.*473A>C) c.696-395A>C (n.696-395A>C) c.*504A>C (n.*504A>C) c.865A>C (p.Ser289Arg) c.877A>C (p.Ser293Arg) c.136-395A>C c.136-176A>C n.913A>C n.333A>C c.796A>C (p.Ser266Arg) | gnomAD v4 |
11 | g.2166945G>A | CA472414334 | TH | c.783C>T (p.Phe261=) c.*472C>T (n.*472C>T) c.696-396C>T (n.696-396C>T) c.*503C>T (n.*503C>T) c.864C>T (p.Phe288=) c.876C>T (p.Phe292=) c.136-396C>T c.136-177C>T n.912C>T n.332C>T c.795C>T (p.Phe265=) | |
11 | g.2166945G>C | CA379126753 | TH | c.783C>G (p.Phe261Leu) c.*472C>G (n.*472C>G) c.696-396C>G (n.696-396C>G) c.*503C>G (n.*503C>G) c.864C>G (p.Phe288Leu) c.876C>G (p.Phe292Leu) c.136-396C>G c.136-177C>G n.912C>G n.332C>G c.795C>G (p.Phe265Leu) | |
11 | g.2166945G>T | CA379126755 | TH | c.783C>A (p.Phe261Leu) c.*472C>A (n.*472C>A) c.696-396C>A (n.696-396C>A) c.*503C>A (n.*503C>A) c.864C>A (p.Phe288Leu) c.876C>A (p.Phe292Leu) c.136-396C>A c.136-177C>A n.912C>A n.332C>A c.795C>A (p.Phe265Leu) | gnomAD v4 |
11 | g.2166946A>C | CA379126760 | TH | c.782T>G (p.Phe261Cys) c.*471T>G (n.*471T>G) c.696-397T>G (n.696-397T>G) c.*502T>G (n.*502T>G) c.863T>G (p.Phe288Cys) c.875T>G (p.Phe292Cys) c.136-397T>G c.136-178T>G n.911T>G n.331T>G c.794T>G (p.Phe265Cys) | |
11 | g.2166946A>G | CA379126759 | TH | c.782T>C (p.Phe261Ser) c.*471T>C (n.*471T>C) c.696-397T>C (n.696-397T>C) c.*502T>C (n.*502T>C) c.863T>C (p.Phe288Ser) c.875T>C (p.Phe292Ser) c.136-397T>C c.136-178T>C n.911T>C n.331T>C c.794T>C (p.Phe265Ser) | |
11 | g.2166946A>T | CA379126758 | TH | c.782T>A (p.Phe261Tyr) c.*471T>A (n.*471T>A) c.696-397T>A (n.696-397T>A) c.*502T>A (n.*502T>A) c.863T>A (p.Phe288Tyr) c.875T>A (p.Phe292Tyr) c.136-397T>A c.136-178T>A n.911T>A n.331T>A c.794T>A (p.Phe265Tyr) | |
11 | g.2166947A>C | CA379126765 | TH | c.781T>G (p.Phe261Val) c.*470T>G (n.*470T>G) c.696-398T>G (n.696-398T>G) c.*501T>G (n.*501T>G) c.862T>G (p.Phe288Val) c.874T>G (p.Phe292Val) c.136-398T>G c.136-179T>G n.910T>G n.330T>G c.793T>G (p.Phe265Val) | |
11 | g.2166947A>G | CA379126763 | TH | c.781T>C (p.Phe261Leu) c.*470T>C (n.*470T>C) c.696-398T>C (n.696-398T>C) c.*501T>C (n.*501T>C) c.862T>C (p.Phe288Leu) c.874T>C (p.Phe292Leu) c.136-398T>C c.136-179T>C n.910T>C n.330T>C c.793T>C (p.Phe265Leu) | gnomAD v4 |
11 | g.2166947A>T | CA379126767 | TH | c.781T>A (p.Phe261Ile) c.*470T>A (n.*470T>A) c.696-398T>A (n.696-398T>A) c.*501T>A (n.*501T>A) c.862T>A (p.Phe288Ile) c.874T>A (p.Phe292Ile) c.136-398T>A c.136-179T>A n.910T>A n.330T>A c.793T>A (p.Phe265Ile) | |
11 | g.2166948del | CA2573146038 | TH | c.780del (p.Phe261SerfsTer19) c.*469del (n.*469del) c.696-399del (n.696-399del) c.*500del (n.*500del) c.861del (p.Phe288SerfsTer19) c.873del (p.Phe292SerfsTer19) c.136-399del c.136-180del n.909del n.329del c.792del (p.Phe265SerfsTer19) | dbSNP |
11 | g.2166948G>A | CA472414337 | TH | c.780C>T (p.Arg260=) c.*469C>T (n.*469C>T) c.696-399C>T (n.696-399C>T) c.*500C>T (n.*500C>T) c.861C>T (p.Arg287=) c.873C>T (p.Arg291=) c.136-399C>T c.136-180C>T n.909C>T n.329C>T c.792C>T (p.Arg264=) | |
11 | g.2166948G>C | CA472414335 | TH | c.780C>G (p.Arg260=) c.*469C>G (n.*469C>G) c.696-399C>G (n.696-399C>G) c.*500C>G (n.*500C>G) c.861C>G (p.Arg287=) c.873C>G (p.Arg291=) c.136-399C>G c.136-180C>G n.909C>G n.329C>G c.792C>G (p.Arg264=) | |
11 | g.2166948G>T | CA472414336 | TH | c.780C>A (p.Arg260=) c.*469C>A (n.*469C>A) c.696-399C>A (n.696-399C>A) c.*500C>A (n.*500C>A) c.861C>A (p.Arg287=) c.873C>A (p.Arg291=) c.136-399C>A c.136-180C>A n.909C>A n.329C>A c.792C>A (p.Arg264=) | |
11 | g.2166949del | CA2580082587 | TH | c.779del (p.Arg260ProfsTer20) c.*468del (n.*468del) c.696-400del (n.696-400del) c.*499del (n.*499del) c.860del (p.Arg287ProfsTer20) c.872del (p.Arg291ProfsTer20) c.136-400del c.136-181del n.908del n.328del c.791del (p.Arg264ProfsTer20) | ClinVar |
11 | g.2166949C>A | CA216285419 | TH | c.779G>T (p.Arg260Leu) c.*468G>T (n.*468G>T) c.696-400G>T (n.696-400G>T) c.*499G>T (n.*499G>T) c.860G>T (p.Arg287Leu) c.872G>T (p.Arg291Leu) c.136-400G>T c.136-181G>T n.908G>T n.328G>T c.791G>T (p.Arg264Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166949C= | CA1948005876 | TH | c.779G= (p.Arg260=) c.*468G= (n.*468G=) c.696-400G= (n.696-400G=) c.*499G= (n.*499G=) c.860G= (p.Arg287=) c.872G= (p.Arg291=) c.136-400G= c.136-181G= n.908G= n.328G= c.791G= (p.Arg264=) | |
11 | g.2166949C>G | CA379126773 | TH | c.779G>C (p.Arg260Pro) c.*468G>C (n.*468G>C) c.696-400G>C (n.696-400G>C) c.*499G>C (n.*499G>C) c.860G>C (p.Arg287Pro) c.872G>C (p.Arg291Pro) c.136-400G>C c.136-181G>C n.908G>C n.328G>C c.791G>C (p.Arg264Pro) | gnomAD v4 |
11 | g.2166949C>T | CA379126770 | TH | c.779G>A (p.Arg260His) c.*468G>A (n.*468G>A) c.696-400G>A (n.696-400G>A) c.*499G>A (n.*499G>A) c.860G>A (p.Arg287His) c.872G>A (p.Arg291His) c.136-400G>A c.136-181G>A n.908G>A n.328G>A c.791G>A (p.Arg264His) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166950del | CA2580082589 | TH | c.778del (p.Arg260AlafsTer20) c.*467del (n.*467del) c.696-401del (n.696-401del) c.*498del (n.*498del) c.859del (p.Arg287AlafsTer20) c.871del (p.Arg291AlafsTer20) c.136-401del c.136-182del n.907del n.327del c.790del (p.Arg264AlafsTer20) | ClinVar |
11 | g.2166950G>A | CA5818493 | TH | c.778C>T (p.Arg260Cys) c.*467C>T (n.*467C>T) c.696-401C>T (n.696-401C>T) c.*498C>T (n.*498C>T) c.859C>T (p.Arg287Cys) c.871C>T (p.Arg291Cys) c.136-401C>T c.136-182C>T n.907C>T n.327C>T c.790C>T (p.Arg264Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166950G>C | CA379126778 | TH | c.778C>G (p.Arg260Gly) c.*467C>G (n.*467C>G) c.696-401C>G (n.696-401C>G) c.*498C>G (n.*498C>G) c.859C>G (p.Arg287Gly) c.871C>G (p.Arg291Gly) c.136-401C>G c.136-182C>G n.907C>G n.327C>G c.790C>G (p.Arg264Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166950G= | CA1948005878 | TH | c.778C= (p.Arg260=) c.*467C= (n.*467C=) c.696-401C= (n.696-401C=) c.*498C= (n.*498C=) c.859C= (p.Arg287=) c.871C= (p.Arg291=) c.136-401C= c.136-182C= n.907C= n.327C= c.790C= (p.Arg264=) | |
11 | g.2166950G>T | CA5818492 | TH | c.778C>A (p.Arg260Ser) c.*467C>A (n.*467C>A) c.696-401C>A (n.696-401C>A) c.*498C>A (n.*498C>A) c.859C>A (p.Arg287Ser) c.871C>A (p.Arg291Ser) c.136-401C>A c.136-182C>A n.907C>A n.327C>A c.790C>A (p.Arg264Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166951C>A | CA379126779 | TH | c.777G>T (p.Glu259Asp) c.*466G>T (n.*466G>T) c.696-402G>T (n.696-402G>T) c.*497G>T (n.*497G>T) c.858G>T (p.Glu286Asp) c.870G>T (p.Glu290Asp) c.136-402G>T c.136-183G>T n.906G>T n.326G>T c.789G>T (p.Glu263Asp) | |
11 | g.2166951C= | CA1948005882 | TH | c.777G= (p.Glu259=) c.*466G= (n.*466G=) c.696-402G= (n.696-402G=) c.*497G= (n.*497G=) c.858G= (p.Glu286=) c.870G= (p.Glu290=) c.136-402G= c.136-183G= n.906G= n.326G= c.789G= (p.Glu263=) | |
11 | g.2166951C>G | CA379126780 | TH | c.777G>C (p.Glu259Asp) c.*466G>C (n.*466G>C) c.696-402G>C (n.696-402G>C) c.*497G>C (n.*497G>C) c.858G>C (p.Glu286Asp) c.870G>C (p.Glu290Asp) c.136-402G>C c.136-183G>C n.906G>C n.326G>C c.789G>C (p.Glu263Asp) | gnomAD v4 |
11 | g.2166951C>T | CA216285439 | TH | c.777G>A (p.Glu259=) c.*466G>A (n.*466G>A) c.696-402G>A (n.696-402G>A) c.*497G>A (n.*497G>A) c.858G>A (p.Glu286=) c.870G>A (p.Glu290=) c.136-402G>A c.136-183G>A n.906G>A n.326G>A c.789G>A (p.Glu263=) | ClinVar dbSNP gnomAD v4 |
11 | g.2166952T>A | CA379126783 | TH | c.776A>T (p.Glu259Val) c.*465A>T (n.*465A>T) c.696-403A>T (n.696-403A>T) c.*496A>T (n.*496A>T) c.857A>T (p.Glu286Val) c.869A>T (p.Glu290Val) c.136-403A>T c.136-184A>T n.905A>T n.325A>T c.788A>T (p.Glu263Val) | |
11 | g.2166952T>C | CA379126787 | TH | c.776A>G (p.Glu259Gly) c.*465A>G (n.*465A>G) c.696-403A>G (n.696-403A>G) c.*496A>G (n.*496A>G) c.857A>G (p.Glu286Gly) c.869A>G (p.Glu290Gly) c.136-403A>G c.136-184A>G n.905A>G n.325A>G c.788A>G (p.Glu263Gly) | gnomAD v4 |
11 | g.2166952T>G | CA379126785 | TH | c.776A>C (p.Glu259Ala) c.*465A>C (n.*465A>C) c.696-403A>C (n.696-403A>C) c.*496A>C (n.*496A>C) c.857A>C (p.Glu286Ala) c.869A>C (p.Glu290Ala) c.136-403A>C c.136-184A>C n.905A>C n.325A>C c.788A>C (p.Glu263Ala) | |
11 | g.2166953C>A | CA379126791 | TH | c.775G>T (p.Glu259Ter) c.*464G>T (n.*464G>T) c.696-404G>T (n.696-404G>T) c.*495G>T (n.*495G>T) c.856G>T (p.Glu286Ter) c.868G>T (p.Glu290Ter) c.136-404G>T c.136-185G>T n.904G>T n.324G>T c.787G>T (p.Glu263Ter) | |
11 | g.2166953C>G | CA379126793 | TH | c.775G>C (p.Glu259Gln) c.*464G>C (n.*464G>C) c.696-404G>C (n.696-404G>C) c.*495G>C (n.*495G>C) c.856G>C (p.Glu286Gln) c.868G>C (p.Glu290Gln) c.136-404G>C c.136-185G>C n.904G>C n.324G>C c.787G>C (p.Glu263Gln) | |
11 | g.2166953C>T | CA379126795 | TH | c.775G>A (p.Glu259Lys) c.*464G>A (n.*464G>A) c.696-404G>A (n.696-404G>A) c.*495G>A (n.*495G>A) c.856G>A (p.Glu286Lys) c.868G>A (p.Glu290Lys) c.136-404G>A c.136-185G>A n.904G>A n.324G>A c.787G>A (p.Glu263Lys) | |
11 | g.2166954C>A | CA472414338 | TH | c.774G>T (p.Leu258=) c.*463G>T (n.*463G>T) c.696-405G>T (n.696-405G>T) c.*494G>T (n.*494G>T) c.855G>T (p.Leu285=) c.867G>T (p.Leu289=) c.136-405G>T c.136-186G>T n.903G>T n.323G>T c.786G>T (p.Leu262=) | |
11 | g.2166954C>G | CA472414339 | TH | c.774G>C (p.Leu258=) c.*463G>C (n.*463G>C) c.696-405G>C (n.696-405G>C) c.*494G>C (n.*494G>C) c.855G>C (p.Leu285=) c.867G>C (p.Leu289=) c.136-405G>C c.136-186G>C n.903G>C n.323G>C c.786G>C (p.Leu262=) | |
11 | g.2166954C>T | CA472414340 | TH | c.774G>A (p.Leu258=) c.*463G>A (n.*463G>A) c.696-405G>A (n.696-405G>A) c.*494G>A (n.*494G>A) c.855G>A (p.Leu285=) c.867G>A (p.Leu289=) c.136-405G>A c.136-186G>A n.903G>A n.323G>A c.786G>A (p.Leu262=) | |
11 | g.2166955A= | CA1948005887 | TH | c.773T= (p.Leu258=) c.*462T= (n.*462T=) c.696-406T= (n.696-406T=) c.*493T= (n.*493T=) c.854T= (p.Leu285=) c.866T= (p.Leu289=) c.136-406T= c.136-187T= n.902T= n.322T= c.785T= (p.Leu262=) | |
11 | g.2166955A>C | CA379126798 | TH | c.773T>G (p.Leu258Arg) c.*462T>G (n.*462T>G) c.696-406T>G (n.696-406T>G) c.*493T>G (n.*493T>G) c.854T>G (p.Leu285Arg) c.866T>G (p.Leu289Arg) c.136-406T>G c.136-187T>G n.902T>G n.322T>G c.785T>G (p.Leu262Arg) | |
11 | g.2166955A>G | CA379126799 | TH | c.773T>C (p.Leu258Pro) c.*462T>C (n.*462T>C) c.696-406T>C (n.696-406T>C) c.*493T>C (n.*493T>C) c.854T>C (p.Leu285Pro) c.866T>C (p.Leu289Pro) c.136-406T>C c.136-187T>C n.902T>C n.322T>C c.785T>C (p.Leu262Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166955A>T | CA379126802 | TH | c.773T>A (p.Leu258Gln) c.*462T>A (n.*462T>A) c.696-406T>A (n.696-406T>A) c.*493T>A (n.*493T>A) c.854T>A (p.Leu285Gln) c.866T>A (p.Leu289Gln) c.136-406T>A c.136-187T>A n.902T>A n.322T>A c.785T>A (p.Leu262Gln) | |
11 | g.2166962_2166966del | CA2611964590 | TH | c.769_773del (p.Leu257GlyfsTer?) c.*458_*462del (n.*458_*462del) c.696-410_696-406del (n.696-410_696-406del) c.*489_*493del (n.*489_*493del) c.850_854del (p.Leu284GlyfsTer?) c.862_866del (p.Leu288GlyfsTer?) c.136-410_136-406del c.136-191_136-187del n.898_902del n.318_322del c.781_785del (p.Leu261GlyfsTer?) | gnomAD v4 |
11 | g.2166956G>A | CA472414341 | TH | c.772C>T (p.Leu258=) c.*461C>T (n.*461C>T) c.696-407C>T (n.696-407C>T) c.*492C>T (n.*492C>T) c.853C>T (p.Leu285=) c.865C>T (p.Leu289=) c.136-407C>T c.136-188C>T n.901C>T n.321C>T c.784C>T (p.Leu262=) | gnomAD v4 |
11 | g.2166956G>C | CA379126804 | TH | c.772C>G (p.Leu258Val) c.*461C>G (n.*461C>G) c.696-407C>G (n.696-407C>G) c.*492C>G (n.*492C>G) c.853C>G (p.Leu285Val) c.865C>G (p.Leu289Val) c.136-407C>G c.136-188C>G n.901C>G n.321C>G c.784C>G (p.Leu262Val) | |
11 | g.2166956G>T | CA379126806 | TH | c.772C>A (p.Leu258Met) c.*461C>A (n.*461C>A) c.696-407C>A (n.696-407C>A) c.*492C>A (n.*492C>A) c.853C>A (p.Leu285Met) c.865C>A (p.Leu289Met) c.136-407C>A c.136-188C>A n.901C>A n.321C>A c.784C>A (p.Leu262Met) | |
11 | g.2166957C>A | CA379126808 | TH | c.771G>T (p.Leu257Phe) c.*460G>T (n.*460G>T) c.696-408G>T (n.696-408G>T) c.*491G>T (n.*491G>T) c.852G>T (p.Leu284Phe) c.864G>T (p.Leu288Phe) c.136-408G>T c.136-189G>T n.900G>T n.320G>T c.783G>T (p.Leu261Phe) | gnomAD v4 |
11 | g.2166957C= | CA1948005892 | TH | c.771G= (p.Leu257=) c.*460G= (n.*460G=) c.696-408G= (n.696-408G=) c.*491G= (n.*491G=) c.852G= (p.Leu284=) c.864G= (p.Leu288=) c.136-408G= c.136-189G= n.900G= n.320G= c.783G= (p.Leu261=) | |
11 | g.2166957C>G | CA379126809 | TH | c.771G>C (p.Leu257Phe) c.*460G>C (n.*460G>C) c.696-408G>C (n.696-408G>C) c.*491G>C (n.*491G>C) c.852G>C (p.Leu284Phe) c.864G>C (p.Leu288Phe) c.136-408G>C c.136-189G>C n.900G>C n.320G>C c.783G>C (p.Leu261Phe) | dbSNP |
11 | g.2166957C>T | CA472414342 | TH | c.771G>A (p.Leu257=) c.*460G>A (n.*460G>A) c.696-408G>A (n.696-408G>A) c.*491G>A (n.*491G>A) c.852G>A (p.Leu284=) c.864G>A (p.Leu288=) c.136-408G>A c.136-189G>A n.900G>A n.320G>A c.783G>A (p.Leu261=) | |
11 | g.2166958A>C | CA379126812 | TH | c.770T>G (p.Leu257Trp) c.*459T>G (n.*459T>G) c.696-409T>G (n.696-409T>G) c.*490T>G (n.*490T>G) c.851T>G (p.Leu284Trp) c.863T>G (p.Leu288Trp) c.136-409T>G c.136-190T>G n.899T>G n.319T>G c.782T>G (p.Leu261Trp) | |
11 | g.2166958A>G | CA379126814 | TH | c.770T>C (p.Leu257Ser) c.*459T>C (n.*459T>C) c.696-409T>C (n.696-409T>C) c.*490T>C (n.*490T>C) c.851T>C (p.Leu284Ser) c.863T>C (p.Leu288Ser) c.136-409T>C c.136-190T>C n.899T>C n.319T>C c.782T>C (p.Leu261Ser) | gnomAD v4 |
11 | g.2166958A>T | CA379126815 | TH | c.770T>A (p.Leu257Ter) c.*459T>A (n.*459T>A) c.696-409T>A (n.696-409T>A) c.*490T>A (n.*490T>A) c.851T>A (p.Leu284Ter) c.863T>A (p.Leu288Ter) c.136-409T>A c.136-190T>A n.899T>A n.319T>A c.782T>A (p.Leu261Ter) | |
11 | g.2166959A= | CA1948005898 | TH | c.769T= (p.Leu257=) c.*458T= (n.*458T=) c.696-410T= (n.696-410T=) c.*489T= (n.*489T=) c.850T= (p.Leu284=) c.862T= (p.Leu288=) c.136-410T= c.136-191T= n.898T= n.318T= c.781T= (p.Leu261=) | |
11 | g.2166959A>C | CA379126818 | TH | c.769T>G (p.Leu257Val) c.*458T>G (n.*458T>G) c.696-410T>G (n.696-410T>G) c.*489T>G (n.*489T>G) c.850T>G (p.Leu284Val) c.862T>G (p.Leu288Val) c.136-410T>G c.136-191T>G n.898T>G n.318T>G c.781T>G (p.Leu261Val) | |
11 | g.2166959A>G | CA5818494 | TH | c.769T>C (p.Leu257=) c.*458T>C (n.*458T>C) c.696-410T>C (n.696-410T>C) c.*489T>C (n.*489T>C) c.850T>C (p.Leu284=) c.862T>C (p.Leu288=) c.136-410T>C c.136-191T>C n.898T>C n.318T>C c.781T>C (p.Leu261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166959A>T | CA379126820 | TH | c.769T>A (p.Leu257Met) c.*458T>A (n.*458T>A) c.696-410T>A (n.696-410T>A) c.*489T>A (n.*489T>A) c.850T>A (p.Leu284Met) c.862T>A (p.Leu288Met) c.136-410T>A c.136-191T>A n.898T>A n.318T>A c.781T>A (p.Leu261Met) | |
11 | g.2166960A= | CA1948005901 | TH | c.768T= (p.Ala256=) c.*457T= (n.*457T=) c.696-411T= (n.696-411T=) c.*488T= (n.*488T=) c.849T= (p.Ala283=) c.861T= (p.Ala287=) c.136-411T= c.136-192T= n.897T= n.317T= c.780T= (p.Ala260=) | |
11 | g.2166960A>C | CA472414345 | TH | c.768T>G (p.Ala256=) c.*457T>G (n.*457T>G) c.696-411T>G (n.696-411T>G) c.*488T>G (n.*488T>G) c.849T>G (p.Ala283=) c.861T>G (p.Ala287=) c.136-411T>G c.136-192T>G n.897T>G n.317T>G c.780T>G (p.Ala260=) | |
11 | g.2166960A>G | CA472414343 | TH | c.768T>C (p.Ala256=) c.*457T>C (n.*457T>C) c.696-411T>C (n.696-411T>C) c.*488T>C (n.*488T>C) c.849T>C (p.Ala283=) c.861T>C (p.Ala287=) c.136-411T>C c.136-192T>C n.897T>C n.317T>C c.780T>C (p.Ala260=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166960A>T | CA472414344 | TH | c.768T>A (p.Ala256=) c.*457T>A (n.*457T>A) c.696-411T>A (n.696-411T>A) c.*488T>A (n.*488T>A) c.849T>A (p.Ala283=) c.861T>A (p.Ala287=) c.136-411T>A c.136-192T>A n.897T>A n.317T>A c.780T>A (p.Ala260=) | |
11 | g.2166961_2166963del | CA2611964602 | TH | c.766_768del (p.Ala256del) c.*455_*457del (n.*455_*457del) c.696-413_696-411del (n.696-413_696-411del) c.*486_*488del (n.*486_*488del) c.847_849del (p.Ala283del) c.859_861del (p.Ala287del) c.136-413_136-411del c.136-194_136-192del n.895_897del n.315_317del c.778_780del (p.Ala260del) | gnomAD v4 |
11 | g.2166961G>A | CA5818495 | TH | c.767C>T (p.Ala256Val) c.*456C>T (n.*456C>T) c.696-412C>T (n.696-412C>T) c.*487C>T (n.*487C>T) c.848C>T (p.Ala283Val) c.860C>T (p.Ala287Val) c.136-412C>T c.136-193C>T n.896C>T n.316C>T c.779C>T (p.Ala260Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166961G>C | CA379126825 | TH | c.767C>G (p.Ala256Gly) c.*456C>G (n.*456C>G) c.696-412C>G (n.696-412C>G) c.*487C>G (n.*487C>G) c.848C>G (p.Ala283Gly) c.860C>G (p.Ala287Gly) c.136-412C>G c.136-193C>G n.896C>G n.316C>G c.779C>G (p.Ala260Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166961G= | CA1948005903 | TH | c.767C= (p.Ala256=) c.*456C= (n.*456C=) c.696-412C= (n.696-412C=) c.*487C= (n.*487C=) c.848C= (p.Ala283=) c.860C= (p.Ala287=) c.136-412C= c.136-193C= n.896C= n.316C= c.779C= (p.Ala260=) | |
11 | g.2166961G>T | CA379126827 | TH | c.767C>A (p.Ala256Asp) c.*456C>A (n.*456C>A) c.696-412C>A (n.696-412C>A) c.*487C>A (n.*487C>A) c.848C>A (p.Ala283Asp) c.860C>A (p.Ala287Asp) c.136-412C>A c.136-193C>A n.896C>A n.316C>A c.779C>A (p.Ala260Asp) | COSMIC |
11 | g.2166962C>A | CA5818496 | TH | c.766G>T (p.Ala256Ser) c.*455G>T (n.*455G>T) c.696-413G>T (n.696-413G>T) c.*486G>T (n.*486G>T) c.847G>T (p.Ala283Ser) c.859G>T (p.Ala287Ser) c.136-413G>T c.136-194G>T n.895G>T n.315G>T c.778G>T (p.Ala260Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166962C= | CA1948005908 | TH | c.766G= (p.Ala256=) c.*455G= (n.*455G=) c.696-413G= (n.696-413G=) c.*486G= (n.*486G=) c.847G= (p.Ala283=) c.859G= (p.Ala287=) c.136-413G= c.136-194G= n.895G= n.315G= c.778G= (p.Ala260=) | |
11 | g.2166962C>G | CA379126832 | TH | c.766G>C (p.Ala256Pro) c.*455G>C (n.*455G>C) c.696-413G>C (n.696-413G>C) c.*486G>C (n.*486G>C) c.847G>C (p.Ala283Pro) c.859G>C (p.Ala287Pro) c.136-413G>C c.136-194G>C n.895G>C n.315G>C c.778G>C (p.Ala260Pro) | |
11 | g.2166962C>T | CA379126834 | TH | c.766G>A (p.Ala256Thr) c.*455G>A (n.*455G>A) c.696-413G>A (n.696-413G>A) c.*486G>A (n.*486G>A) c.847G>A (p.Ala283Thr) c.859G>A (p.Ala287Thr) c.136-413G>A c.136-194G>A n.895G>A n.315G>A c.778G>A (p.Ala260Thr) | |
11 | g.2166963A= | CA1948005917 | TH | c.765T= (p.Phe255=) c.*454T= (n.*454T=) c.696-414T= (n.696-414T=) c.*485T= (n.*485T=) c.846T= (p.Phe282=) c.858T= (p.Phe286=) c.136-414T= c.136-195T= n.894T= n.314T= c.777T= (p.Phe259=) | |
11 | g.2166963A>C | CA379126837 | TH | c.765T>G (p.Phe255Leu) c.*454T>G (n.*454T>G) c.696-414T>G (n.696-414T>G) c.*485T>G (n.*485T>G) c.846T>G (p.Phe282Leu) c.858T>G (p.Phe286Leu) c.136-414T>G c.136-195T>G n.894T>G n.314T>G c.777T>G (p.Phe259Leu) | ClinVar gnomAD v4 |
11 | g.2166963A>G | CA5818497 | TH | c.765T>C (p.Phe255=) c.*454T>C (n.*454T>C) c.696-414T>C (n.696-414T>C) c.*485T>C (n.*485T>C) c.846T>C (p.Phe282=) c.858T>C (p.Phe286=) c.136-414T>C c.136-195T>C n.894T>C n.314T>C c.777T>C (p.Phe259=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166963A>T | CA379126840 | TH | c.765T>A (p.Phe255Leu) c.*454T>A (n.*454T>A) c.696-414T>A (n.696-414T>A) c.*485T>A (n.*485T>A) c.846T>A (p.Phe282Leu) c.858T>A (p.Phe286Leu) c.136-414T>A c.136-195T>A n.894T>A n.314T>A c.777T>A (p.Phe259Leu) | |
11 | g.2166965dup | CA597431467 | TH | c.765dup (p.Ala256CysfsTer?) c.*454dup (n.*454dup) c.696-414dup (n.696-414dup) c.*485dup (n.*485dup) c.846dup (p.Ala283CysfsTer?) c.858dup (p.Ala287CysfsTer?) c.136-414dup c.136-195dup n.894dup n.314dup c.777dup (p.Ala260CysfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166964A>C | CA379126847 | TH | c.764T>G (p.Phe255Cys) c.*453T>G (n.*453T>G) c.696-415T>G (n.696-415T>G) c.*484T>G (n.*484T>G) c.845T>G (p.Phe282Cys) c.857T>G (p.Phe286Cys) c.136-415T>G c.136-196T>G n.893T>G n.313T>G c.776T>G (p.Phe259Cys) | |
11 | g.2166964A>G | CA379126845 | TH | c.764T>C (p.Phe255Ser) c.*453T>C (n.*453T>C) c.696-415T>C (n.696-415T>C) c.*484T>C (n.*484T>C) c.845T>C (p.Phe282Ser) c.857T>C (p.Phe286Ser) c.136-415T>C c.136-196T>C n.893T>C n.313T>C c.776T>C (p.Phe259Ser) | |
11 | g.2166964A>T | CA379126842 | TH | c.764T>A (p.Phe255Tyr) c.*453T>A (n.*453T>A) c.696-415T>A (n.696-415T>A) c.*484T>A (n.*484T>A) c.845T>A (p.Phe282Tyr) c.857T>A (p.Phe286Tyr) c.136-415T>A c.136-196T>A n.893T>A n.313T>A c.776T>A (p.Phe259Tyr) | |
11 | g.2166965A>C | CA379126849 | TH | c.763T>G (p.Phe255Val) c.*452T>G (n.*452T>G) c.696-416T>G (n.696-416T>G) c.*483T>G (n.*483T>G) c.844T>G (p.Phe282Val) c.856T>G (p.Phe286Val) c.136-416T>G c.136-197T>G n.892T>G n.312T>G c.775T>G (p.Phe259Val) | |
11 | g.2166965A>G | CA379126851 | TH | c.763T>C (p.Phe255Leu) c.*452T>C (n.*452T>C) c.696-416T>C (n.696-416T>C) c.*483T>C (n.*483T>C) c.844T>C (p.Phe282Leu) c.856T>C (p.Phe286Leu) c.136-416T>C c.136-197T>C n.892T>C n.312T>C c.775T>C (p.Phe259Leu) | |
11 | g.2166965A>T | CA379126853 | TH | c.763T>A (p.Phe255Ile) c.*452T>A (n.*452T>A) c.696-416T>A (n.696-416T>A) c.*483T>A (n.*483T>A) c.844T>A (p.Phe282Ile) c.856T>A (p.Phe286Ile) c.136-416T>A c.136-197T>A n.892T>A n.312T>A c.775T>A (p.Phe259Ile) | |
11 | g.2166965_2166966delinsAG | CA1948005920 | TH | c.762_763delinsCT (p.Ala254=) c.*451_*452delinsCT (n.*451_*452delinsCT) c.696-417_696-416delinsCT (n.696-417_696-416delinsCT) c.*482_*483delinsCT (n.*482_*483delinsCT) c.843_844delinsCT (p.Ala281=) c.855_856delinsCT (p.Ala285=) c.136-417_136-416delinsCT c.136-198_136-197delinsCT n.891_892delinsCT n.311_312delinsCT c.774_775delinsCT (p.Ala258=) | |
11 | g.2166966G>A | CA472414346 | TH | c.762C>T (p.Ala254=) c.*451C>T (n.*451C>T) c.696-417C>T (n.696-417C>T) c.*482C>T (n.*482C>T) c.843C>T (p.Ala281=) c.855C>T (p.Ala285=) c.136-417C>T c.136-198C>T n.891C>T n.311C>T c.774C>T (p.Ala258=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166966G>C | CA472414347 | TH | c.762C>G (p.Ala254=) c.*451C>G (n.*451C>G) c.696-417C>G (n.696-417C>G) c.*482C>G (n.*482C>G) c.843C>G (p.Ala281=) c.855C>G (p.Ala285=) c.136-417C>G c.136-198C>G n.891C>G n.311C>G c.774C>G (p.Ala258=) | |
11 | g.2166966G= | CA1948005923 | TH | c.762C= (p.Ala254=) c.*451C= (n.*451C=) c.696-417C= (n.696-417C=) c.*482C= (n.*482C=) c.843C= (p.Ala281=) c.855C= (p.Ala285=) c.136-417C= c.136-198C= n.891C= n.311C= c.774C= (p.Ala258=) | |
11 | g.2166966G>T | CA472414348 | TH | c.762C>A (p.Ala254=) c.*451C>A (n.*451C>A) c.696-417C>A (n.696-417C>A) c.*482C>A (n.*482C>A) c.843C>A (p.Ala281=) c.855C>A (p.Ala285=) c.136-417C>A c.136-198C>A n.891C>A n.311C>A c.774C>A (p.Ala258=) | gnomAD v4 |
11 | g.2166967del | CA1948005922 | TH | c.762del (p.Phe255LeufsTer25) c.*451del (n.*451del) c.696-417del (n.696-417del) c.*482del (n.*482del) c.843del (p.Phe282LeufsTer25) c.855del (p.Phe286LeufsTer25) c.136-417del c.136-198del n.891del n.311del c.774del (p.Phe259LeufsTer25) | dbSNP |
11 | g.2166967G>A | CA379126856 | TH | c.761C>T (p.Ala254Val) c.*450C>T (n.*450C>T) c.696-418C>T (n.696-418C>T) c.*481C>T (n.*481C>T) c.842C>T (p.Ala281Val) c.854C>T (p.Ala285Val) c.136-418C>T c.136-199C>T n.890C>T n.310C>T c.773C>T (p.Ala258Val) | gnomAD v4 |
11 | g.2166967G>C | CA379126858 | TH | c.761C>G (p.Ala254Gly) c.*450C>G (n.*450C>G) c.696-418C>G (n.696-418C>G) c.*481C>G (n.*481C>G) c.842C>G (p.Ala281Gly) c.854C>G (p.Ala285Gly) c.136-418C>G c.136-199C>G n.890C>G n.310C>G c.773C>G (p.Ala258Gly) | |
11 | g.2166967G>T | CA379126860 | TH | c.761C>A (p.Ala254Asp) c.*450C>A (n.*450C>A) c.696-418C>A (n.696-418C>A) c.*481C>A (n.*481C>A) c.842C>A (p.Ala281Asp) c.854C>A (p.Ala285Asp) c.136-418C>A c.136-199C>A n.890C>A n.310C>A c.773C>A (p.Ala258Asp) | gnomAD v4 |
11 | g.2166968C>A | CA379126863 | TH | c.760G>T (p.Ala254Ser) c.*449G>T (n.*449G>T) c.696-419G>T (n.696-419G>T) c.*480G>T (n.*480G>T) c.841G>T (p.Ala281Ser) c.853G>T (p.Ala285Ser) c.136-419G>T c.136-200G>T n.889G>T n.309G>T c.772G>T (p.Ala258Ser) | gnomAD v4 |
11 | g.2166968C>G | CA379126865 | TH | c.760G>C (p.Ala254Pro) c.*449G>C (n.*449G>C) c.696-419G>C (n.696-419G>C) c.*480G>C (n.*480G>C) c.841G>C (p.Ala281Pro) c.853G>C (p.Ala285Pro) c.136-419G>C c.136-200G>C n.889G>C n.309G>C c.772G>C (p.Ala258Pro) | gnomAD v4 |
11 | g.2166968C>T | CA379126867 | TH | c.760G>A (p.Ala254Thr) c.*449G>A (n.*449G>A) c.696-419G>A (n.696-419G>A) c.*480G>A (n.*480G>A) c.841G>A (p.Ala281Thr) c.853G>A (p.Ala285Thr) c.136-419G>A c.136-200G>A n.889G>A n.309G>A c.772G>A (p.Ala258Thr) | |
11 | g.2166969C>A | CA379126870 | TH | c.759G>T (p.Glu253Asp) c.*448G>T (n.*448G>T) c.696-420G>T (n.696-420G>T) c.*479G>T (n.*479G>T) c.840G>T (p.Glu280Asp) c.852G>T (p.Glu284Asp) c.136-420G>T c.136-201G>T n.888G>T n.308G>T c.771G>T (p.Glu257Asp) | |
11 | g.2166969C= | CA1948005927 | TH | c.759G= (p.Glu253=) c.*448G= (n.*448G=) c.696-420G= (n.696-420G=) c.*479G= (n.*479G=) c.840G= (p.Glu280=) c.852G= (p.Glu284=) c.136-420G= c.136-201G= n.888G= n.308G= c.771G= (p.Glu257=) | |
11 | g.2166969C>G | CA5818498 | TH | c.759G>C (p.Glu253Asp) c.*448G>C (n.*448G>C) c.696-420G>C (n.696-420G>C) c.*479G>C (n.*479G>C) c.840G>C (p.Glu280Asp) c.852G>C (p.Glu284Asp) c.136-420G>C c.136-201G>C n.888G>C n.308G>C c.771G>C (p.Glu257Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166969C>T | CA472414349 | TH | c.759G>A (p.Glu253=) c.*448G>A (n.*448G>A) c.696-420G>A (n.696-420G>A) c.*479G>A (n.*479G>A) c.840G>A (p.Glu280=) c.852G>A (p.Glu284=) c.136-420G>A c.136-201G>A n.888G>A n.308G>A c.771G>A (p.Glu257=) | ClinVar dbSNP |
11 | g.2166970T>A | CA5818499 | TH | c.758A>T (p.Glu253Val) c.*447A>T (n.*447A>T) c.696-421A>T (n.696-421A>T) c.*478A>T (n.*478A>T) c.839A>T (p.Glu280Val) c.851A>T (p.Glu284Val) c.136-421A>T c.136-202A>T n.887A>T n.307A>T c.770A>T (p.Glu257Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166970T>C | CA379126875 | TH | c.758A>G (p.Glu253Gly) c.*447A>G (n.*447A>G) c.696-421A>G (n.696-421A>G) c.*478A>G (n.*478A>G) c.839A>G (p.Glu280Gly) c.851A>G (p.Glu284Gly) c.136-421A>G c.136-202A>G n.887A>G n.307A>G c.770A>G (p.Glu257Gly) | gnomAD v4 |
11 | g.2166970T>G | CA379126874 | TH | c.758A>C (p.Glu253Ala) c.*447A>C (n.*447A>C) c.696-421A>C (n.696-421A>C) c.*478A>C (n.*478A>C) c.839A>C (p.Glu280Ala) c.851A>C (p.Glu284Ala) c.136-421A>C c.136-202A>C n.887A>C n.307A>C c.770A>C (p.Glu257Ala) | |
11 | g.2166970T= | CA1948005931 | TH | c.758A= (p.Glu253=) c.*447A= (n.*447A=) c.696-421A= (n.696-421A=) c.*478A= (n.*478A=) c.839A= (p.Glu280=) c.851A= (p.Glu284=) c.136-421A= c.136-202A= n.887A= n.307A= c.770A= (p.Glu257=) | |
11 | g.2166970_2166971insA | CA2790191070 | TH | c.757_758insT (p.Glu253ValfsTer?) c.*446_*447insT (n.*446_*447insT) c.696-422_696-421insT (n.696-422_696-421insT) c.*477_*478insT (n.*477_*478insT) c.838_839insT (p.Glu280ValfsTer?) c.850_851insT (p.Glu284ValfsTer?) c.136-422_136-421insT c.136-203_136-202insT n.886_887insT n.306_307insT c.769_770insT (p.Glu257ValfsTer?) | |
11 | g.2166971C>A | CA379126878 | TH | c.757G>T (p.Glu253Ter) c.*446G>T (n.*446G>T) c.696-422G>T (n.696-422G>T) c.*477G>T (n.*477G>T) c.838G>T (p.Glu280Ter) c.850G>T (p.Glu284Ter) c.136-422G>T c.136-203G>T n.886G>T n.306G>T c.769G>T (p.Glu257Ter) | gnomAD v4 |
11 | g.2166971C= | CA1948005936 | TH | c.757G= (p.Glu253=) c.*446G= (n.*446G=) c.696-422G= (n.696-422G=) c.*477G= (n.*477G=) c.838G= (p.Glu280=) c.850G= (p.Glu284=) c.136-422G= c.136-203G= n.886G= n.306G= c.769G= (p.Glu257=) | |
11 | g.2166971C>G | CA379126881 | TH | c.757G>C (p.Glu253Gln) c.*446G>C (n.*446G>C) c.696-422G>C (n.696-422G>C) c.*477G>C (n.*477G>C) c.838G>C (p.Glu280Gln) c.850G>C (p.Glu284Gln) c.136-422G>C c.136-203G>C n.886G>C n.306G>C c.769G>C (p.Glu257Gln) | |
11 | g.2166971C>T | CA379126883 | TH | c.757G>A (p.Glu253Lys) c.*446G>A (n.*446G>A) c.696-422G>A (n.696-422G>A) c.*477G>A (n.*477G>A) c.838G>A (p.Glu280Lys) c.850G>A (p.Glu284Lys) c.136-422G>A c.136-203G>A n.886G>A n.306G>A c.769G>A (p.Glu257Lys) | dbSNP gnomAD v4 |
11 | g.2166972C>A | CA472414352 | TH | c.756G>T (p.Leu252=) c.*445G>T (n.*445G>T) c.696-423G>T (n.696-423G>T) c.*476G>T (n.*476G>T) c.837G>T (p.Leu279=) c.849G>T (p.Leu283=) c.136-423G>T c.136-204G>T n.885G>T n.305G>T c.768G>T (p.Leu256=) | gnomAD v4 |
11 | g.2166972C= | CA1948005938 | TH | c.756G= (p.Leu252=) c.*445G= (n.*445G=) c.696-423G= (n.696-423G=) c.*476G= (n.*476G=) c.837G= (p.Leu279=) c.849G= (p.Leu283=) c.136-423G= c.136-204G= n.885G= n.305G= c.768G= (p.Leu256=) | |
11 | g.2166972C>G | CA472414350 | TH | c.756G>C (p.Leu252=) c.*445G>C (n.*445G>C) c.696-423G>C (n.696-423G>C) c.*476G>C (n.*476G>C) c.837G>C (p.Leu279=) c.849G>C (p.Leu283=) c.136-423G>C c.136-204G>C n.885G>C n.305G>C c.768G>C (p.Leu256=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166972C>T | CA472414351 | TH | c.756G>A (p.Leu252=) c.*445G>A (n.*445G>A) c.696-423G>A (n.696-423G>A) c.*476G>A (n.*476G>A) c.837G>A (p.Leu279=) c.849G>A (p.Leu283=) c.136-423G>A c.136-204G>A n.885G>A n.305G>A c.768G>A (p.Leu256=) | |
11 | g.2166973A= | CA1948005942 | TH | c.755T= (p.Leu252=) c.*444T= (n.*444T=) c.696-424T= (n.696-424T=) c.*475T= (n.*475T=) c.836T= (p.Leu279=) c.848T= (p.Leu283=) c.136-424T= c.136-205T= n.884T= n.304T= c.767T= (p.Leu256=) | |
11 | g.2166973A>C | CA216285510 | TH | c.755T>G (p.Leu252Arg) c.*444T>G (n.*444T>G) c.696-424T>G (n.696-424T>G) c.*475T>G (n.*475T>G) c.836T>G (p.Leu279Arg) c.848T>G (p.Leu283Arg) c.136-424T>G c.136-205T>G n.884T>G n.304T>G c.767T>G (p.Leu256Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166973A>G | CA379126887 | TH | c.755T>C (p.Leu252Pro) c.*444T>C (n.*444T>C) c.696-424T>C (n.696-424T>C) c.*475T>C (n.*475T>C) c.836T>C (p.Leu279Pro) c.848T>C (p.Leu283Pro) c.136-424T>C c.136-205T>C n.884T>C n.304T>C c.767T>C (p.Leu256Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166973A>T | CA379126888 | TH | c.755T>A (p.Leu252Gln) c.*444T>A (n.*444T>A) c.696-424T>A (n.696-424T>A) c.*475T>A (n.*475T>A) c.836T>A (p.Leu279Gln) c.848T>A (p.Leu283Gln) c.136-424T>A c.136-205T>A n.884T>A n.304T>A c.767T>A (p.Leu256Gln) | |
11 | g.2166974G>A | CA472414353 | TH | c.754C>T (p.Leu252=) c.*443C>T (n.*443C>T) c.696-425C>T (n.696-425C>T) c.*474C>T (n.*474C>T) c.835C>T (p.Leu279=) c.847C>T (p.Leu283=) c.136-425C>T c.136-206C>T n.883C>T n.303C>T c.766C>T (p.Leu256=) | |
11 | g.2166974G>C | CA379126892 | TH | c.754C>G (p.Leu252Val) c.*443C>G (n.*443C>G) c.696-425C>G (n.696-425C>G) c.*474C>G (n.*474C>G) c.835C>G (p.Leu279Val) c.847C>G (p.Leu283Val) c.136-425C>G c.136-206C>G n.883C>G n.303C>G c.766C>G (p.Leu256Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166974G= | CA1948005946 | TH | c.754C= (p.Leu252=) c.*443C= (n.*443C=) c.696-425C= (n.696-425C=) c.*474C= (n.*474C=) c.835C= (p.Leu279=) c.847C= (p.Leu283=) c.136-425C= c.136-206C= n.883C= n.303C= c.766C= (p.Leu256=) | |
11 | g.2166974G>T | CA379126893 | TH | c.754C>A (p.Leu252Met) c.*443C>A (n.*443C>A) c.696-425C>A (n.696-425C>A) c.*474C>A (n.*474C>A) c.835C>A (p.Leu279Met) c.847C>A (p.Leu283Met) c.136-425C>A c.136-206C>A n.883C>A n.303C>A c.766C>A (p.Leu256Met) | |
11 | g.2166975G>A | CA472414354 | TH | c.753C>T (p.His251=) c.*442C>T (n.*442C>T) c.696-426C>T (n.696-426C>T) c.*473C>T (n.*473C>T) c.834C>T (p.His278=) c.846C>T (p.His282=) c.136-426C>T c.136-207C>T n.882C>T n.302C>T c.765C>T (p.His255=) | gnomAD v4 |
11 | g.2166975G>C | CA379126896 | TH | c.753C>G (p.His251Gln) c.*442C>G (n.*442C>G) c.696-426C>G (n.696-426C>G) c.*473C>G (n.*473C>G) c.834C>G (p.His278Gln) c.846C>G (p.His282Gln) c.136-426C>G c.136-207C>G n.882C>G n.302C>G c.765C>G (p.His255Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166975G= | CA1948005948 | TH | c.753C= (p.His251=) c.*442C= (n.*442C=) c.696-426C= (n.696-426C=) c.*473C= (n.*473C=) c.834C= (p.His278=) c.846C= (p.His282=) c.136-426C= c.136-207C= n.882C= n.302C= c.765C= (p.His255=) | |
11 | g.2166975G>T | CA379126898 | TH | c.753C>A (p.His251Gln) c.*442C>A (n.*442C>A) c.696-426C>A (n.696-426C>A) c.*473C>A (n.*473C>A) c.834C>A (p.His278Gln) c.846C>A (p.His282Gln) c.136-426C>A c.136-207C>A n.882C>A n.302C>A c.765C>A (p.His255Gln) | |
11 | g.2166976T>A | CA379126900 | TH | c.752A>T (p.His251Leu) c.*441A>T (n.*441A>T) c.696-427A>T (n.696-427A>T) c.*472A>T (n.*472A>T) c.833A>T (p.His278Leu) c.845A>T (p.His282Leu) c.136-427A>T c.136-208A>T n.881A>T n.301A>T c.764A>T (p.His255Leu) | |
11 | g.2166976T>C | CA379126903 | TH | c.752A>G (p.His251Arg) c.*441A>G (n.*441A>G) c.696-427A>G (n.696-427A>G) c.*472A>G (n.*472A>G) c.833A>G (p.His278Arg) c.845A>G (p.His282Arg) c.136-427A>G c.136-208A>G n.881A>G n.301A>G c.764A>G (p.His255Arg) | |
11 | g.2166976T>G | CA379126905 | TH | c.752A>C (p.His251Pro) c.*441A>C (n.*441A>C) c.696-427A>C (n.696-427A>C) c.*472A>C (n.*472A>C) c.833A>C (p.His278Pro) c.845A>C (p.His282Pro) c.136-427A>C c.136-208A>C n.881A>C n.301A>C c.764A>C (p.His255Pro) | |
11 | g.2166977G>A | CA379126912 | TH | c.751C>T (p.His251Tyr) c.*440C>T (n.*440C>T) c.696-428C>T (n.696-428C>T) c.*471C>T (n.*471C>T) c.832C>T (p.His278Tyr) c.844C>T (p.His282Tyr) c.136-428C>T c.136-209C>T n.880C>T n.300C>T c.763C>T (p.His255Tyr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166977G>C | CA379126909 | TH | c.751C>G (p.His251Asp) c.*440C>G (n.*440C>G) c.696-428C>G (n.696-428C>G) c.*471C>G (n.*471C>G) c.832C>G (p.His278Asp) c.844C>G (p.His282Asp) c.136-428C>G c.136-209C>G n.880C>G n.300C>G c.763C>G (p.His255Asp) | |
11 | g.2166977G= | CA1948005952 | TH | c.751C= (p.His251=) c.*440C= (n.*440C=) c.696-428C= (n.696-428C=) c.*471C= (n.*471C=) c.832C= (p.His278=) c.844C= (p.His282=) c.136-428C= c.136-209C= n.880C= n.300C= c.763C= (p.His255=) | |
11 | g.2166977G>T | CA379126907 | TH | c.751C>A (p.His251Asn) c.*440C>A (n.*440C>A) c.696-428C>A (n.696-428C>A) c.*471C>A (n.*471C>A) c.832C>A (p.His278Asn) c.844C>A (p.His282Asn) c.136-428C>A c.136-209C>A n.880C>A n.300C>A c.763C>A (p.His255Asn) | gnomAD v4 |
11 | g.2166978C>A | CA379126917 | TH | c.750G>T (p.Glu250Asp) c.*439G>T (n.*439G>T) c.696-429G>T (n.696-429G>T) c.*470G>T (n.*470G>T) c.831G>T (p.Glu277Asp) c.843G>T (p.Glu281Asp) c.136-429G>T c.136-210G>T n.879G>T n.299G>T c.762G>T (p.Glu254Asp) | gnomAD v4 |
11 | g.2166978C>G | CA379126914 | TH | c.750G>C (p.Glu250Asp) c.*439G>C (n.*439G>C) c.696-429G>C (n.696-429G>C) c.*470G>C (n.*470G>C) c.831G>C (p.Glu277Asp) c.843G>C (p.Glu281Asp) c.136-429G>C c.136-210G>C n.879G>C n.299G>C c.762G>C (p.Glu254Asp) | |
11 | g.2166978C>T | CA472414355 | TH | c.750G>A (p.Glu250=) c.*439G>A (n.*439G>A) c.696-429G>A (n.696-429G>A) c.*470G>A (n.*470G>A) c.831G>A (p.Glu277=) c.843G>A (p.Glu281=) c.136-429G>A c.136-210G>A n.879G>A n.299G>A c.762G>A (p.Glu254=) | |
11 | g.2166979T>A | CA10582880 | TH | c.749A>T (p.Glu250Val) c.*438A>T (n.*438A>T) c.696-430A>T (n.696-430A>T) c.*469A>T (n.*469A>T) c.830A>T (p.Glu277Val) c.842A>T (p.Glu281Val) c.136-430A>T c.136-211A>T n.878A>T n.298A>T c.761A>T (p.Glu254Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166979T>C | CA379126919 | TH | c.749A>G (p.Glu250Gly) c.*438A>G (n.*438A>G) c.696-430A>G (n.696-430A>G) c.*469A>G (n.*469A>G) c.830A>G (p.Glu277Gly) c.842A>G (p.Glu281Gly) c.136-430A>G c.136-211A>G n.878A>G n.298A>G c.761A>G (p.Glu254Gly) | |
11 | g.2166979T>G | CA379126921 | TH | c.749A>C (p.Glu250Ala) c.*438A>C (n.*438A>C) c.696-430A>C (n.696-430A>C) c.*469A>C (n.*469A>C) c.830A>C (p.Glu277Ala) c.842A>C (p.Glu281Ala) c.136-430A>C c.136-211A>C n.878A>C n.298A>C c.761A>C (p.Glu254Ala) | |
11 | g.2166979T= | CA1948005955 | TH | c.749A= (p.Glu250=) c.*438A= (n.*438A=) c.696-430A= (n.696-430A=) c.*469A= (n.*469A=) c.830A= (p.Glu277=) c.842A= (p.Glu281=) c.136-430A= c.136-211A= n.878A= n.298A= c.761A= (p.Glu254=) | |
11 | g.2166980C>A | CA379126925 | TH | c.748G>T (p.Glu250Ter) c.*437G>T (n.*437G>T) c.696-431G>T (n.696-431G>T) c.*468G>T (n.*468G>T) c.829G>T (p.Glu277Ter) c.841G>T (p.Glu281Ter) c.136-431G>T c.136-212G>T n.877G>T n.297G>T c.760G>T (p.Glu254Ter) | gnomAD v4 COSMIC |
11 | g.2166980C= | CA1948005962 | TH | c.748G= (p.Glu250=) c.*437G= (n.*437G=) c.696-431G= (n.696-431G=) c.*468G= (n.*468G=) c.829G= (p.Glu277=) c.841G= (p.Glu281=) c.136-431G= c.136-212G= n.877G= n.297G= c.760G= (p.Glu254=) | |
11 | g.2166980C>G | CA247843 | TH | c.748G>C (p.Glu250Gln) c.*437G>C (n.*437G>C) c.696-431G>C (n.696-431G>C) c.*468G>C (n.*468G>C) c.829G>C (p.Glu277Gln) c.841G>C (p.Glu281Gln) c.136-431G>C c.136-212G>C n.877G>C n.297G>C c.760G>C (p.Glu254Gln) | ClinVar dbSNP |
11 | g.2166980C>T | CA379126929 | TH | c.748G>A (p.Glu250Lys) c.*437G>A (n.*437G>A) c.696-431G>A (n.696-431G>A) c.*468G>A (n.*468G>A) c.829G>A (p.Glu277Lys) c.841G>A (p.Glu281Lys) c.136-431G>A c.136-212G>A n.877G>A n.297G>A c.760G>A (p.Glu254Lys) | |
11 | g.2166983del | CA2580082590 | TH | c.748del (p.Glu250SerfsTer30) c.*437del (n.*437del) c.696-431del (n.696-431del) c.*468del (n.*468del) c.829del (p.Glu277SerfsTer30) c.841del (p.Glu281SerfsTer30) c.136-431del c.136-212del n.877del n.297del c.760del (p.Glu254SerfsTer30) | ClinVar gnomAD v4 |
11 | g.2166981C>A | CA472414356 | TH | c.747G>T (p.Gly249=) c.*436G>T (n.*436G>T) c.696-432G>T (n.696-432G>T) c.*467G>T (n.*467G>T) c.828G>T (p.Gly276=) c.840G>T (p.Gly280=) c.136-432G>T c.136-213G>T n.876G>T n.296G>T c.759G>T (p.Gly253=) | gnomAD v4 |
11 | g.2166981C>G | CA472414358 | TH | c.747G>C (p.Gly249=) c.*436G>C (n.*436G>C) c.696-432G>C (n.696-432G>C) c.*467G>C (n.*467G>C) c.828G>C (p.Gly276=) c.840G>C (p.Gly280=) c.136-432G>C c.136-213G>C n.876G>C n.296G>C c.759G>C (p.Gly253=) | |
11 | g.2166981C>T | CA472414357 | TH | c.747G>A (p.Gly249=) c.*436G>A (n.*436G>A) c.696-432G>A (n.696-432G>A) c.*467G>A (n.*467G>A) c.828G>A (p.Gly276=) c.840G>A (p.Gly280=) c.136-432G>A c.136-213G>A n.876G>A n.296G>A c.759G>A (p.Gly253=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166982C>A | CA379126932 | TH | c.746G>T (p.Gly249Val) c.*435G>T (n.*435G>T) c.696-433G>T (n.696-433G>T) c.*466G>T (n.*466G>T) c.827G>T (p.Gly276Val) c.839G>T (p.Gly280Val) c.136-433G>T c.136-214G>T n.875G>T n.295G>T c.758G>T (p.Gly253Val) | gnomAD v4 |
11 | g.2166982C>G | CA379126934 | TH | c.746G>C (p.Gly249Ala) c.*435G>C (n.*435G>C) c.696-433G>C (n.696-433G>C) c.*466G>C (n.*466G>C) c.827G>C (p.Gly276Ala) c.839G>C (p.Gly280Ala) c.136-433G>C c.136-214G>C n.875G>C n.295G>C c.758G>C (p.Gly253Ala) | |
11 | g.2166982C>T | CA379126936 | TH | c.746G>A (p.Gly249Glu) c.*435G>A (n.*435G>A) c.696-433G>A (n.696-433G>A) c.*466G>A (n.*466G>A) c.827G>A (p.Gly276Glu) c.839G>A (p.Gly280Glu) c.136-433G>A c.136-214G>A n.875G>A n.295G>A c.758G>A (p.Gly253Glu) | gnomAD v4 |
11 | g.2166983C>A | CA216285541 | TH | c.745G>T (p.Gly249Trp) c.*434G>T (n.*434G>T) c.696-434G>T (n.696-434G>T) c.*465G>T (n.*465G>T) c.826G>T (p.Gly276Trp) c.838G>T (p.Gly280Trp) c.136-434G>T c.136-215G>T n.874G>T n.294G>T c.757G>T (p.Gly253Trp) | dbSNP gnomAD v4 |
11 | g.2166983C= | CA1948005967 | TH | c.745G= (p.Gly249=) c.*434G= (n.*434G=) c.696-434G= (n.696-434G=) c.*465G= (n.*465G=) c.826G= (p.Gly276=) c.838G= (p.Gly280=) c.136-434G= c.136-215G= n.874G= n.294G= c.757G= (p.Gly253=) | |
11 | g.2166983C>G | CA379126940 | TH | c.745G>C (p.Gly249Arg) c.*434G>C (n.*434G>C) c.696-434G>C (n.696-434G>C) c.*465G>C (n.*465G>C) c.826G>C (p.Gly276Arg) c.838G>C (p.Gly280Arg) c.136-434G>C c.136-215G>C n.874G>C n.294G>C c.757G>C (p.Gly253Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166983C>T | CA5818500 | TH | c.745G>A (p.Gly249Arg) c.*434G>A (n.*434G>A) c.696-434G>A (n.696-434G>A) c.*465G>A (n.*465G>A) c.826G>A (p.Gly276Arg) c.838G>A (p.Gly280Arg) c.136-434G>A c.136-215G>A n.874G>A n.294G>A c.757G>A (p.Gly253Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166984G>A | CA472414359 | TH | c.744C>T (p.Cys248=) c.*433C>T (n.*433C>T) c.696-435C>T (n.696-435C>T) c.*464C>T (n.*464C>T) c.825C>T (p.Cys275=) c.837C>T (p.Cys279=) c.136-435C>T c.136-216C>T n.873C>T n.293C>T c.756C>T (p.Cys252=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166984G>C | CA379126943 | TH | c.744C>G (p.Cys248Trp) c.*433C>G (n.*433C>G) c.696-435C>G (n.696-435C>G) c.*464C>G (n.*464C>G) c.825C>G (p.Cys275Trp) c.837C>G (p.Cys279Trp) c.136-435C>G c.136-216C>G n.873C>G n.293C>G c.756C>G (p.Cys252Trp) | |
11 | g.2166984G= | CA1948005971 | TH | c.744C= (p.Cys248=) c.*433C= (n.*433C=) c.696-435C= (n.696-435C=) c.*464C= (n.*464C=) c.825C= (p.Cys275=) c.837C= (p.Cys279=) c.136-435C= c.136-216C= n.873C= n.293C= c.756C= (p.Cys252=) | |
11 | g.2166984G>T | CA379126945 | TH | c.744C>A (p.Cys248Ter) c.*433C>A (n.*433C>A) c.696-435C>A (n.696-435C>A) c.*464C>A (n.*464C>A) c.825C>A (p.Cys275Ter) c.837C>A (p.Cys279Ter) c.136-435C>A c.136-216C>A n.873C>A n.293C>A c.756C>A (p.Cys252Ter) | gnomAD v4 |
11 | g.2166985C>A | CA379126952 | TH | c.743G>T (p.Cys248Phe) c.*432G>T (n.*432G>T) c.696-436G>T (n.696-436G>T) c.*463G>T (n.*463G>T) c.824G>T (p.Cys275Phe) c.836G>T (p.Cys279Phe) c.136-436G>T c.136-217G>T n.872G>T n.292G>T c.755G>T (p.Cys252Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166985C= | CA1948005974 | TH | c.743G= (p.Cys248=) c.*432G= (n.*432G=) c.696-436G= (n.696-436G=) c.*463G= (n.*463G=) c.824G= (p.Cys275=) c.836G= (p.Cys279=) c.136-436G= c.136-217G= n.872G= n.292G= c.755G= (p.Cys252=) | |
11 | g.2166985C>G | CA379126948 | TH | c.743G>C (p.Cys248Ser) c.*432G>C (n.*432G>C) c.696-436G>C (n.696-436G>C) c.*463G>C (n.*463G>C) c.824G>C (p.Cys275Ser) c.836G>C (p.Cys279Ser) c.136-436G>C c.136-217G>C n.872G>C n.292G>C c.755G>C (p.Cys252Ser) | |
11 | g.2166985C>T | CA379126950 | TH | c.743G>A (p.Cys248Tyr) c.*432G>A (n.*432G>A) c.696-436G>A (n.696-436G>A) c.*463G>A (n.*463G>A) c.824G>A (p.Cys275Tyr) c.836G>A (p.Cys279Tyr) c.136-436G>A c.136-217G>A n.872G>A n.292G>A c.755G>A (p.Cys252Tyr) | gnomAD v4 |
11 | g.2166985_2166989dup | CA2580082591 | TH | c.739_743dup (p.Cys248TrpfsTer?) c.*428_*432dup (n.*428_*432dup) c.696-440_696-436dup (n.696-440_696-436dup) c.*459_*463dup (n.*459_*463dup) c.820_824dup (p.Cys275TrpfsTer?) c.832_836dup (p.Cys279TrpfsTer?) c.136-440_136-436dup c.136-221_136-217dup n.868_872dup n.288_292dup c.751_755dup (p.Cys252TrpfsTer?) | ClinVar |
11 | g.2166986A>C | CA379126953 | TH | c.742T>G (p.Cys248Gly) c.*431T>G (n.*431T>G) c.696-437T>G (n.696-437T>G) c.*462T>G (n.*462T>G) c.823T>G (p.Cys275Gly) c.835T>G (p.Cys279Gly) c.136-437T>G c.136-218T>G n.871T>G n.291T>G c.754T>G (p.Cys252Gly) | |
11 | g.2166986A>G | CA379126954 | TH | c.742T>C (p.Cys248Arg) c.*431T>C (n.*431T>C) c.696-437T>C (n.696-437T>C) c.*462T>C (n.*462T>C) c.823T>C (p.Cys275Arg) c.835T>C (p.Cys279Arg) c.136-437T>C c.136-218T>C n.871T>C n.291T>C c.754T>C (p.Cys252Arg) | |
11 | g.2166986A>T | CA379126956 | TH | c.742T>A (p.Cys248Ser) c.*431T>A (n.*431T>A) c.696-437T>A (n.696-437T>A) c.*462T>A (n.*462T>A) c.823T>A (p.Cys275Ser) c.835T>A (p.Cys279Ser) c.136-437T>A c.136-218T>A n.871T>A n.291T>A c.754T>A (p.Cys252Ser) | gnomAD v4 |
11 | g.2166987G>A | CA472414360 | TH | c.741C>T (p.Ala247=) c.*430C>T (n.*430C>T) c.696-438C>T (n.696-438C>T) c.*461C>T (n.*461C>T) c.822C>T (p.Ala274=) c.834C>T (p.Ala278=) c.136-438C>T c.136-219C>T n.870C>T n.290C>T c.753C>T (p.Ala251=) | |
11 | g.2166987G>C | CA472414361 | TH | c.741C>G (p.Ala247=) c.*430C>G (n.*430C>G) c.696-438C>G (n.696-438C>G) c.*461C>G (n.*461C>G) c.822C>G (p.Ala274=) c.834C>G (p.Ala278=) c.136-438C>G c.136-219C>G n.870C>G n.290C>G c.753C>G (p.Ala251=) | |
11 | g.2166987G>T | CA472414362 | TH | c.741C>A (p.Ala247=) c.*430C>A (n.*430C>A) c.696-438C>A (n.696-438C>A) c.*461C>A (n.*461C>A) c.822C>A (p.Ala274=) c.834C>A (p.Ala278=) c.136-438C>A c.136-219C>A n.870C>A n.290C>A c.753C>A (p.Ala251=) | |
11 | g.2166988G>A | CA379126959 | TH | c.740C>T (p.Ala247Val) c.*429C>T (n.*429C>T) c.696-439C>T (n.696-439C>T) c.*460C>T (n.*460C>T) c.821C>T (p.Ala274Val) c.833C>T (p.Ala278Val) c.136-439C>T c.136-220C>T n.869C>T n.289C>T c.752C>T (p.Ala251Val) | dbSNP gnomAD v4 |
11 | g.2166988G>C | CA379126961 | TH | c.740C>G (p.Ala247Gly) c.*429C>G (n.*429C>G) c.696-439C>G (n.696-439C>G) c.*460C>G (n.*460C>G) c.821C>G (p.Ala274Gly) c.833C>G (p.Ala278Gly) c.136-439C>G c.136-220C>G n.869C>G n.289C>G c.752C>G (p.Ala251Gly) | |
11 | g.2166988G= | CA1948005976 | TH | c.740C= (p.Ala247=) c.*429C= (n.*429C=) c.696-439C= (n.696-439C=) c.*460C= (n.*460C=) c.821C= (p.Ala274=) c.833C= (p.Ala278=) c.136-439C= c.136-220C= n.869C= n.289C= c.752C= (p.Ala251=) | |
11 | g.2166988G>T | CA5818501 | TH | c.740C>A (p.Ala247Asp) c.*429C>A (n.*429C>A) c.696-439C>A (n.696-439C>A) c.*460C>A (n.*460C>A) c.821C>A (p.Ala274Asp) c.833C>A (p.Ala278Asp) c.136-439C>A c.136-220C>A n.869C>A n.289C>A c.752C>A (p.Ala251Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166989C>A | CA379126965 | TH | c.739G>T (p.Ala247Ser) c.*428G>T (n.*428G>T) c.696-440G>T (n.696-440G>T) c.*459G>T (n.*459G>T) c.820G>T (p.Ala274Ser) c.832G>T (p.Ala278Ser) c.136-440G>T c.136-221G>T n.868G>T n.288G>T c.751G>T (p.Ala251Ser) | gnomAD v4 |
11 | g.2166989C= | CA1948005980 | TH | c.739G= (p.Ala247=) c.*428G= (n.*428G=) c.696-440G= (n.696-440G=) c.*459G= (n.*459G=) c.820G= (p.Ala274=) c.832G= (p.Ala278=) c.136-440G= c.136-221G= n.868G= n.288G= c.751G= (p.Ala251=) | |
11 | g.2166989C>G | CA5818502 | TH | c.739G>C (p.Ala247Pro) c.*428G>C (n.*428G>C) c.696-440G>C (n.696-440G>C) c.*459G>C (n.*459G>C) c.820G>C (p.Ala274Pro) c.832G>C (p.Ala278Pro) c.136-440G>C c.136-221G>C n.868G>C n.288G>C c.751G>C (p.Ala251Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166989C>T | CA379126968 | TH | c.739G>A (p.Ala247Thr) c.*428G>A (n.*428G>A) c.696-440G>A (n.696-440G>A) c.*459G>A (n.*459G>A) c.820G>A (p.Ala274Thr) c.832G>A (p.Ala278Thr) c.136-440G>A c.136-221G>A n.868G>A n.288G>A c.751G>A (p.Ala251Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.2166990G>A | CA472414363 | TH | c.738C>T (p.His246=) c.*427C>T (n.*427C>T) c.696-441C>T (n.696-441C>T) c.*458C>T (n.*458C>T) c.819C>T (p.His273=) c.831C>T (p.His277=) c.136-441C>T c.136-222C>T n.867C>T n.287C>T c.750C>T (p.His250=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166990G>C | CA379126971 | TH | c.738C>G (p.His246Gln) c.*427C>G (n.*427C>G) c.696-441C>G (n.696-441C>G) c.*458C>G (n.*458C>G) c.819C>G (p.His273Gln) c.831C>G (p.His277Gln) c.136-441C>G c.136-222C>G n.867C>G n.287C>G c.750C>G (p.His250Gln) | dbSNP |
11 | g.2166990G= | CA1948005984 | TH | c.738C= (p.His246=) c.*427C= (n.*427C=) c.696-441C= (n.696-441C=) c.*458C= (n.*458C=) c.819C= (p.His273=) c.831C= (p.His277=) c.136-441C= c.136-222C= n.867C= n.287C= c.750C= (p.His250=) | |
11 | g.2166990G>T | CA5818503 | TH | c.738C>A (p.His246Gln) c.*427C>A (n.*427C>A) c.696-441C>A (n.696-441C>A) c.*458C>A (n.*458C>A) c.819C>A (p.His273Gln) c.831C>A (p.His277Gln) c.136-441C>A c.136-222C>A n.867C>A n.287C>A c.750C>A (p.His250Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166991T>A | CA379126980 | TH | c.737A>T (p.His246Leu) c.*426A>T (n.*426A>T) c.696-442A>T (n.696-442A>T) c.*457A>T (n.*457A>T) c.818A>T (p.His273Leu) c.830A>T (p.His277Leu) c.136-442A>T c.136-223A>T n.866A>T n.286A>T c.749A>T (p.His250Leu) | |
11 | g.2166991T>C | CA379126977 | TH | c.737A>G (p.His246Arg) c.*426A>G (n.*426A>G) c.696-442A>G (n.696-442A>G) c.*457A>G (n.*457A>G) c.818A>G (p.His273Arg) c.830A>G (p.His277Arg) c.136-442A>G c.136-223A>G n.866A>G n.286A>G c.749A>G (p.His250Arg) | gnomAD v4 |
11 | g.2166991T>G | CA379126975 | TH | c.737A>C (p.His246Pro) c.*426A>C (n.*426A>C) c.696-442A>C (n.696-442A>C) c.*457A>C (n.*457A>C) c.818A>C (p.His273Pro) c.830A>C (p.His277Pro) c.136-442A>C c.136-223A>C n.866A>C n.286A>C c.749A>C (p.His250Pro) | |
11 | g.2166992G>A | CA379126982 | TH | c.736C>T (p.His246Tyr) c.*425C>T (n.*425C>T) c.696-443C>T (n.696-443C>T) c.*456C>T (n.*456C>T) c.817C>T (p.His273Tyr) c.829C>T (p.His277Tyr) c.136-443C>T c.136-224C>T n.865C>T n.285C>T c.748C>T (p.His250Tyr) | gnomAD v4 |
11 | g.2166992G>C | CA379126984 | TH | c.736C>G (p.His246Asp) c.*425C>G (n.*425C>G) c.696-443C>G (n.696-443C>G) c.*456C>G (n.*456C>G) c.817C>G (p.His273Asp) c.829C>G (p.His277Asp) c.136-443C>G c.136-224C>G n.865C>G n.285C>G c.748C>G (p.His250Asp) | |
11 | g.2166992G>T | CA379126986 | TH | c.736C>A (p.His246Asn) c.*425C>A (n.*425C>A) c.696-443C>A (n.696-443C>A) c.*456C>A (n.*456C>A) c.817C>A (p.His273Asn) c.829C>A (p.His277Asn) c.136-443C>A c.136-224C>A n.865C>A n.285C>A c.748C>A (p.His250Asn) | gnomAD v4 |
11 | g.2166993C>A | CA5818504 | TH | c.735G>T (p.Thr245=) c.*424G>T (n.*424G>T) c.695+442G>T (n.695+442G>T) c.*455G>T (n.*455G>T) c.816G>T (p.Thr272=) c.828G>T (p.Thr276=) c.135+442G>T c.136-225G>T n.864G>T n.284G>T c.747G>T (p.Thr249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166993C= | CA1948005992 | TH | c.735G= (p.Thr245=) c.*424G= (n.*424G=) c.695+442G= (n.695+442G=) c.*455G= (n.*455G=) c.816G= (p.Thr272=) c.828G= (p.Thr276=) c.135+442G= c.136-225G= n.864G= n.284G= c.747G= (p.Thr249=) | |
11 | g.2166993C>G | CA472414365 | TH | c.735G>C (p.Thr245=) c.*424G>C (n.*424G>C) c.695+442G>C (n.695+442G>C) c.*455G>C (n.*455G>C) c.816G>C (p.Thr272=) c.828G>C (p.Thr276=) c.135+442G>C c.136-225G>C n.864G>C n.284G>C c.747G>C (p.Thr249=) | gnomAD v4 |
11 | g.2166993C>T | CA472414364 | TH | c.735G>A (p.Thr245=) c.*424G>A (n.*424G>A) c.695+442G>A (n.695+442G>A) c.*455G>A (n.*455G>A) c.816G>A (p.Thr272=) c.828G>A (p.Thr276=) c.135+442G>A c.136-225G>A n.864G>A n.284G>A c.747G>A (p.Thr249=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2166993_2166998dup | CA2611964843 | TH | c.730_735dup (p.Thr245_His246insAlaThr) c.*419_*424dup (n.*419_*424dup) c.695+437_695+442dup (n.695+437_695+442dup) c.*450_*455dup (n.*450_*455dup) c.811_816dup (p.Thr272_His273insAlaThr) c.823_828dup (p.Thr276_His277insAlaThr) c.135+437_135+442dup c.136-230_136-225dup n.859_864dup n.279_284dup c.742_747dup (p.Thr249_His250insAlaThr) | gnomAD v4 |
11 | g.2166994G>A | CA379126990 | TH | c.734C>T (p.Thr245Met) c.*423C>T (n.*423C>T) c.695+441C>T (n.695+441C>T) c.*454C>T (n.*454C>T) c.815C>T (p.Thr272Met) c.827C>T (p.Thr276Met) c.135+441C>T c.136-226C>T n.863C>T n.283C>T c.746C>T (p.Thr249Met) | gnomAD v4 |
11 | g.2166994G>C | CA379126992 | TH | c.734C>G (p.Thr245Arg) c.*423C>G (n.*423C>G) c.695+441C>G (n.695+441C>G) c.*454C>G (n.*454C>G) c.815C>G (p.Thr272Arg) c.827C>G (p.Thr276Arg) c.135+441C>G c.136-226C>G n.863C>G n.283C>G c.746C>G (p.Thr249Arg) | |
11 | g.2166994G= | CA1948005996 | TH | c.734C= (p.Thr245=) c.*423C= (n.*423C=) c.695+441C= (n.695+441C=) c.*454C= (n.*454C=) c.815C= (p.Thr272=) c.827C= (p.Thr276=) c.135+441C= c.136-226C= n.863C= n.283C= c.746C= (p.Thr249=) | |
11 | g.2166994G>T | CA379126994 | TH | c.734C>A (p.Thr245Lys) c.*423C>A (n.*423C>A) c.695+441C>A (n.695+441C>A) c.*454C>A (n.*454C>A) c.815C>A (p.Thr272Lys) c.827C>A (p.Thr276Lys) c.135+441C>A c.136-226C>A n.863C>A n.283C>A c.746C>A (p.Thr249Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2166995T>A | CA379126996 | TH | c.733A>T (p.Thr245Ser) c.*422A>T (n.*422A>T) c.695+440A>T (n.695+440A>T) c.*453A>T (n.*453A>T) c.814A>T (p.Thr272Ser) c.826A>T (p.Thr276Ser) c.135+440A>T c.136-227A>T n.862A>T n.282A>T c.745A>T (p.Thr249Ser) | |
11 | g.2166995T>C | CA379126998 | TH | c.733A>G (p.Thr245Ala) c.*422A>G (n.*422A>G) c.695+440A>G (n.695+440A>G) c.*453A>G (n.*453A>G) c.814A>G (p.Thr272Ala) c.826A>G (p.Thr276Ala) c.135+440A>G c.136-227A>G n.862A>G n.282A>G c.745A>G (p.Thr249Ala) | |
11 | g.2166995T>G | CA278132 | TH | c.733A>C (p.Thr245Pro) c.*422A>C (n.*422A>C) c.695+440A>C (n.695+440A>C) c.*453A>C (n.*453A>C) c.814A>C (p.Thr272Pro) c.826A>C (p.Thr276Pro) c.135+440A>C c.136-227A>C n.862A>C n.282A>C c.745A>C (p.Thr249Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166995T= | CA1948006004 | TH | c.733A= (p.Thr245=) c.*422A= (n.*422A=) c.695+440A= (n.695+440A=) c.*453A= (n.*453A=) c.814A= (p.Thr272=) c.826A= (p.Thr276=) c.135+440A= c.136-227A= n.862A= n.282A= c.745A= (p.Thr249=) | |
11 | g.2166996G>A | CA472414368 | TH | c.732C>T (p.Ala244=) c.*421C>T (n.*421C>T) c.695+439C>T (n.695+439C>T) c.*452C>T (n.*452C>T) c.813C>T (p.Ala271=) c.825C>T (p.Ala275=) c.135+439C>T c.136-228C>T n.861C>T n.281C>T c.744C>T (p.Ala248=) | ClinVar dbSNP gnomAD v4 |
11 | g.2166996G>C | CA472414366 | TH | c.732C>G (p.Ala244=) c.*421C>G (n.*421C>G) c.695+439C>G (n.695+439C>G) c.*452C>G (n.*452C>G) c.813C>G (p.Ala271=) c.825C>G (p.Ala275=) c.135+439C>G c.136-228C>G n.861C>G n.281C>G c.744C>G (p.Ala248=) | |
11 | g.2166996G= | CA1948006010 | TH | c.732C= (p.Ala244=) c.*421C= (n.*421C=) c.695+439C= (n.695+439C=) c.*452C= (n.*452C=) c.813C= (p.Ala271=) c.825C= (p.Ala275=) c.135+439C= c.136-228C= n.861C= n.281C= c.744C= (p.Ala248=) | |
11 | g.2166996G>T | CA472414367 | TH | c.732C>A (p.Ala244=) c.*421C>A (n.*421C>A) c.695+439C>A (n.695+439C>A) c.*452C>A (n.*452C>A) c.813C>A (p.Ala271=) c.825C>A (p.Ala275=) c.135+439C>A c.136-228C>A n.861C>A n.281C>A c.744C>A (p.Ala248=) | gnomAD v4 |
11 | g.2166997G>A | CA379127001 | TH | c.731C>T (p.Ala244Val) c.*420C>T (n.*420C>T) c.695+438C>T (n.695+438C>T) c.*451C>T (n.*451C>T) c.812C>T (p.Ala271Val) c.824C>T (p.Ala275Val) c.135+438C>T c.136-229C>T n.860C>T n.280C>T c.743C>T (p.Ala248Val) | dbSNP |
11 | g.2166997G>C | CA379127003 | TH | c.731C>G (p.Ala244Gly) c.*420C>G (n.*420C>G) c.695+438C>G (n.695+438C>G) c.*451C>G (n.*451C>G) c.812C>G (p.Ala271Gly) c.824C>G (p.Ala275Gly) c.135+438C>G c.136-229C>G n.860C>G n.280C>G c.743C>G (p.Ala248Gly) | |
11 | g.2166997G>T | CA379127005 | TH | c.731C>A (p.Ala244Asp) c.*420C>A (n.*420C>A) c.695+438C>A (n.695+438C>A) c.*451C>A (n.*451C>A) c.812C>A (p.Ala271Asp) c.824C>A (p.Ala275Asp) c.135+438C>A c.136-229C>A n.860C>A n.280C>A c.743C>A (p.Ala248Asp) | gnomAD v4 |
11 | g.2166998_2166999dup | CA597431468 | TH | c.730_731dup (p.Thr245ProfsTer?) c.*419_*420dup (n.*419_*420dup) c.695+437_695+438dup (n.695+437_695+438dup) c.*450_*451dup (n.*450_*451dup) c.811_812dup (p.Thr272ProfsTer?) c.823_824dup (p.Thr276ProfsTer?) c.135+437_135+438dup c.136-230_136-229dup n.859_860dup n.279_280dup c.742_743dup (p.Thr249ProfsTer?) | dbSNP gnomAD v2 |
11 | g.2166998C>A | CA379127009 | TH | c.730G>T (p.Ala244Ser) c.*419G>T (n.*419G>T) c.695+437G>T (n.695+437G>T) c.*450G>T (n.*450G>T) c.811G>T (p.Ala271Ser) c.823G>T (p.Ala275Ser) c.135+437G>T c.136-230G>T n.859G>T n.279G>T c.742G>T (p.Ala248Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166998C= | CA1948006014 | TH | c.730G= (p.Ala244=) c.*419G= (n.*419G=) c.695+437G= (n.695+437G=) c.*450G= (n.*450G=) c.811G= (p.Ala271=) c.823G= (p.Ala275=) c.135+437G= c.136-230G= n.859G= n.279G= c.742G= (p.Ala248=) | |
11 | g.2166998C>G | CA5818506 | TH | c.730G>C (p.Ala244Pro) c.*419G>C (n.*419G>C) c.695+437G>C (n.695+437G>C) c.*450G>C (n.*450G>C) c.811G>C (p.Ala271Pro) c.823G>C (p.Ala275Pro) c.135+437G>C c.136-230G>C n.859G>C n.279G>C c.742G>C (p.Ala248Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2166998C>T | CA5818505 | TH | c.730G>A (p.Ala244Thr) c.*419G>A (n.*419G>A) c.695+437G>A (n.695+437G>A) c.*450G>A (n.*450G>A) c.811G>A (p.Ala271Thr) c.823G>A (p.Ala275Thr) c.135+437G>A c.136-230G>A n.859G>A n.279G>A c.742G>A (p.Ala248Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2166999G>A | CA10582881 | TH | c.729C>T (p.Tyr243=) c.*418C>T (n.*418C>T) c.695+436C>T (n.695+436C>T) c.*449C>T (n.*449C>T) c.810C>T (p.Tyr270=) c.822C>T (p.Tyr274=) c.135+436C>T c.136-231C>T n.858C>T n.278C>T c.741C>T (p.Tyr247=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2166999G>C | CA379127012 | TH | c.729C>G (p.Tyr243Ter) c.*418C>G (n.*418C>G) c.695+436C>G (n.695+436C>G) c.*449C>G (n.*449C>G) c.810C>G (p.Tyr270Ter) c.822C>G (p.Tyr274Ter) c.135+436C>G c.136-231C>G n.858C>G n.278C>G c.741C>G (p.Tyr247Ter) | gnomAD v4 |
11 | g.2166999G= | CA1948006020 | TH | c.729C= (p.Tyr243=) c.*418C= (n.*418C=) c.695+436C= (n.695+436C=) c.*449C= (n.*449C=) c.810C= (p.Tyr270=) c.822C= (p.Tyr274=) c.135+436C= c.136-231C= n.858C= n.278C= c.741C= (p.Tyr247=) | |
11 | g.2166999G>T | CA379127014 | TH | c.729C>A (p.Tyr243Ter) c.*418C>A (n.*418C>A) c.695+436C>A (n.695+436C>A) c.*449C>A (n.*449C>A) c.810C>A (p.Tyr270Ter) c.822C>A (p.Tyr274Ter) c.135+436C>A c.136-231C>A n.858C>A n.278C>A c.741C>A (p.Tyr247Ter) | gnomAD v4 |
11 | g.2167000T>A | CA379127016 | TH | c.728A>T (p.Tyr243Phe) c.*417A>T (n.*417A>T) c.695+435A>T (n.695+435A>T) c.*448A>T (n.*448A>T) c.809A>T (p.Tyr270Phe) c.821A>T (p.Tyr274Phe) c.135+435A>T c.136-232A>T n.857A>T n.277A>T c.740A>T (p.Tyr247Phe) | |
11 | g.2167000T>C | CA379127018 | TH | c.728A>G (p.Tyr243Cys) c.*417A>G (n.*417A>G) c.695+435A>G (n.695+435A>G) c.*448A>G (n.*448A>G) c.809A>G (p.Tyr270Cys) c.821A>G (p.Tyr274Cys) c.135+435A>G c.136-232A>G n.857A>G n.277A>G c.740A>G (p.Tyr247Cys) | gnomAD v4 |
11 | g.2167000T>G | CA379127020 | TH | c.728A>C (p.Tyr243Ser) c.*417A>C (n.*417A>C) c.695+435A>C (n.695+435A>C) c.*448A>C (n.*448A>C) c.809A>C (p.Tyr270Ser) c.821A>C (p.Tyr274Ser) c.135+435A>C c.136-232A>C n.857A>C n.277A>C c.740A>C (p.Tyr247Ser) | |
11 | g.2167001A= | CA1948006024 | TH | c.727T= (p.Tyr243=) c.*416T= (n.*416T=) c.695+434T= (n.695+434T=) c.*447T= (n.*447T=) c.808T= (p.Tyr270=) c.820T= (p.Tyr274=) c.135+434T= c.136-233T= n.856T= n.276T= c.739T= (p.Tyr247=) | |
11 | g.2167001A>C | CA379127024 | TH | c.727T>G (p.Tyr243Asp) c.*416T>G (n.*416T>G) c.695+434T>G (n.695+434T>G) c.*447T>G (n.*447T>G) c.808T>G (p.Tyr270Asp) c.820T>G (p.Tyr274Asp) c.135+434T>G c.136-233T>G n.856T>G n.276T>G c.739T>G (p.Tyr247Asp) | |
11 | g.2167001A>G | CA379127025 | TH | c.727T>C (p.Tyr243His) c.*416T>C (n.*416T>C) c.695+434T>C (n.695+434T>C) c.*447T>C (n.*447T>C) c.808T>C (p.Tyr270His) c.820T>C (p.Tyr274His) c.135+434T>C c.136-233T>C n.856T>C n.276T>C c.739T>C (p.Tyr247His) | ClinVar dbSNP gnomAD v4 |
11 | g.2167001A>T | CA379127027 | TH | c.727T>A (p.Tyr243Asn) c.*416T>A (n.*416T>A) c.695+434T>A (n.695+434T>A) c.*447T>A (n.*447T>A) c.808T>A (p.Tyr270Asn) c.820T>A (p.Tyr274Asn) c.135+434T>A c.136-233T>A n.856T>A n.276T>A c.739T>A (p.Tyr247Asn) | gnomAD v4 |
11 | g.2167002G>A | CA472414369 | TH | c.726C>T (p.Leu242=) c.*415C>T (n.*415C>T) c.695+433C>T (n.695+433C>T) c.*446C>T (n.*446C>T) c.807C>T (p.Leu269=) c.819C>T (p.Leu273=) c.135+433C>T c.136-234C>T n.855C>T n.275C>T c.738C>T (p.Leu246=) | |
11 | g.2167002G>C | CA472414370 | TH | c.726C>G (p.Leu242=) c.*415C>G (n.*415C>G) c.695+433C>G (n.695+433C>G) c.*446C>G (n.*446C>G) c.807C>G (p.Leu269=) c.819C>G (p.Leu273=) c.135+433C>G c.136-234C>G n.855C>G n.275C>G c.738C>G (p.Leu246=) | dbSNP gnomAD v4 COSMIC |
11 | g.2167002G= | CA1948006030 | TH | c.726C= (p.Leu242=) c.*415C= (n.*415C=) c.695+433C= (n.695+433C=) c.*446C= (n.*446C=) c.807C= (p.Leu269=) c.819C= (p.Leu273=) c.135+433C= c.136-234C= n.855C= n.275C= c.738C= (p.Leu246=) | |
11 | g.2167002G>T | CA472414371 | TH | c.726C>A (p.Leu242=) c.*415C>A (n.*415C>A) c.695+433C>A (n.695+433C>A) c.*446C>A (n.*446C>A) c.807C>A (p.Leu269=) c.819C>A (p.Leu273=) c.135+433C>A c.136-234C>A n.855C>A n.275C>A c.738C>A (p.Leu246=) | gnomAD v4 |
11 | g.2167003A= | CA1948006036 | TH | c.725T= (p.Leu242=) c.*414T= (n.*414T=) c.695+432T= (n.695+432T=) c.*445T= (n.*445T=) c.806T= (p.Leu269=) c.818T= (p.Leu273=) c.135+432T= c.136-235T= n.854T= n.274T= c.737T= (p.Leu246=) | |
11 | g.2167003A>C | CA379127029 | TH | c.725T>G (p.Leu242Arg) c.*414T>G (n.*414T>G) c.695+432T>G (n.695+432T>G) c.*445T>G (n.*445T>G) c.806T>G (p.Leu269Arg) c.818T>G (p.Leu273Arg) c.135+432T>G c.136-235T>G n.854T>G n.274T>G c.737T>G (p.Leu246Arg) | |
11 | g.2167003A>G | CA379127030 | TH | c.725T>C (p.Leu242Pro) c.*414T>C (n.*414T>C) c.695+432T>C (n.695+432T>C) c.*445T>C (n.*445T>C) c.806T>C (p.Leu269Pro) c.818T>C (p.Leu273Pro) c.135+432T>C c.136-235T>C n.854T>C n.274T>C c.737T>C (p.Leu246Pro) | dbSNP |
11 | g.2167003A>T | CA379127032 | TH | c.725T>A (p.Leu242His) c.*414T>A (n.*414T>A) c.695+432T>A (n.695+432T>A) c.*445T>A (n.*445T>A) c.806T>A (p.Leu269His) c.818T>A (p.Leu273His) c.135+432T>A c.136-235T>A n.854T>A n.274T>A c.737T>A (p.Leu246His) | gnomAD v4 |
11 | g.2167003_2167004delinsAG | CA1948006037 | TH | c.724_725delinsCT (p.Leu242=) c.*413_*414delinsCT (n.*413_*414delinsCT) c.695+431_695+432delinsCT (n.695+431_695+432delinsCT) c.*444_*445delinsCT (n.*444_*445delinsCT) c.805_806delinsCT (p.Leu269=) c.817_818delinsCT (p.Leu273=) c.135+431_135+432delinsCT c.136-236_136-235delinsCT n.853_854delinsCT n.273_274delinsCT c.736_737delinsCT (p.Leu246=) | |
11 | g.2167004G>A | CA379127036 | TH | c.724C>T (p.Leu242Phe) c.*413C>T (n.*413C>T) c.695+431C>T (n.695+431C>T) c.*444C>T (n.*444C>T) c.805C>T (p.Leu269Phe) c.817C>T (p.Leu273Phe) c.135+431C>T c.136-236C>T n.853C>T n.273C>T c.736C>T (p.Leu246Phe) | ClinVar dbSNP gnomAD v4 |
11 | g.2167004G>C | CA379127039 | TH | c.724C>G (p.Leu242Val) c.*413C>G (n.*413C>G) c.695+431C>G (n.695+431C>G) c.*444C>G (n.*444C>G) c.805C>G (p.Leu269Val) c.817C>G (p.Leu273Val) c.135+431C>G c.136-236C>G n.853C>G n.273C>G c.736C>G (p.Leu246Val) | |
11 | g.2167004G= | CA1948006045 | TH | c.724C= (p.Leu242=) c.*413C= (n.*413C=) c.695+431C= (n.695+431C=) c.*444C= (n.*444C=) c.805C= (p.Leu269=) c.817C= (p.Leu273=) c.135+431C= c.136-236C= n.853C= n.273C= c.736C= (p.Leu246=) | |
11 | g.2167004G>T | CA379127035 | TH | c.724C>A (p.Leu242Ile) c.*413C>A (n.*413C>A) c.695+431C>A (n.695+431C>A) c.*444C>A (n.*444C>A) c.805C>A (p.Leu269Ile) c.817C>A (p.Leu273Ile) c.135+431C>A c.136-236C>A n.853C>A n.273C>A c.736C>A (p.Leu246Ile) | gnomAD v4 |
11 | g.2167005del | CA1948006043 | TH | c.724del (p.Leu242SerfsTer?) c.*413del (n.*413del) c.695+431del (n.695+431del) c.*444del (n.*444del) c.805del (p.Leu269SerfsTer?) c.817del (p.Leu273SerfsTer?) c.135+431del c.136-236del n.853del n.273del c.736del (p.Leu246SerfsTer?) | dbSNP |
11 | g.2167005G>A | CA472414372 | TH | c.723C>T (p.Gly241=) c.*412C>T (n.*412C>T) c.695+430C>T (n.695+430C>T) c.*443C>T (n.*443C>T) c.804C>T (p.Gly268=) c.816C>T (p.Gly272=) c.135+430C>T c.136-237C>T n.852C>T n.272C>T c.735C>T (p.Gly245=) | ClinVar gnomAD v4 |
11 | g.2167005G>C | CA472414373 | TH | c.723C>G (p.Gly241=) c.*412C>G (n.*412C>G) c.695+430C>G (n.695+430C>G) c.*443C>G (n.*443C>G) c.804C>G (p.Gly268=) c.816C>G (p.Gly272=) c.135+430C>G c.136-237C>G n.852C>G n.272C>G c.735C>G (p.Gly245=) | |
11 | g.2167005G= | CA1948006051 | TH | c.723C= (p.Gly241=) c.*412C= (n.*412C=) c.695+430C= (n.695+430C=) c.*443C= (n.*443C=) c.804C= (p.Gly268=) c.816C= (p.Gly272=) c.135+430C= c.136-237C= n.852C= n.272C= c.735C= (p.Gly245=) | |
11 | g.2167005G>T | CA5818507 | TH | c.723C>A (p.Gly241=) c.*412C>A (n.*412C>A) c.695+430C>A (n.695+430C>A) c.*443C>A (n.*443C>A) c.804C>A (p.Gly268=) c.816C>A (p.Gly272=) c.135+430C>A c.136-237C>A n.852C>A n.272C>A c.735C>A (p.Gly245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2167006C>A | CA379127045 | TH | c.722G>T (p.Gly241Val) c.*411G>T (n.*411G>T) c.695+429G>T (n.695+429G>T) c.*442G>T (n.*442G>T) c.803G>T (p.Gly268Val) c.815G>T (p.Gly272Val) c.135+429G>T c.136-238G>T n.851G>T n.271G>T c.734G>T (p.Gly245Val) | gnomAD v4 |
11 | g.2167006C>G | CA379127044 | TH | c.722G>C (p.Gly241Ala) c.*411G>C (n.*411G>C) c.695+429G>C (n.695+429G>C) c.*442G>C (n.*442G>C) c.803G>C (p.Gly268Ala) c.815G>C (p.Gly272Ala) c.135+429G>C c.136-238G>C n.851G>C n.271G>C c.734G>C (p.Gly245Ala) | gnomAD v4 |
11 | g.2167006C>T | CA379127051 | TH | c.722G>A (p.Gly241Asp) c.*411G>A (n.*411G>A) c.695+429G>A (n.695+429G>A) c.*442G>A (n.*442G>A) c.803G>A (p.Gly268Asp) c.815G>A (p.Gly272Asp) c.135+429G>A c.136-238G>A n.851G>A n.271G>A c.734G>A (p.Gly245Asp) | ClinVar gnomAD v4 |
11 | g.2167008del | CA2611964930 | TH | c.722del (p.Gly241AlafsTer?) c.*411del (n.*411del) c.695+429del (n.695+429del) c.*442del (n.*442del) c.803del (p.Gly268AlafsTer?) c.815del (p.Gly272AlafsTer?) c.135+429del c.136-238del n.851del n.271del c.734del (p.Gly245AlafsTer?) | gnomAD v4 |
11 | g.2167007C>A | CA5818508 | TH | c.721G>T (p.Gly241Cys) c.*410G>T (n.*410G>T) c.695+428G>T (n.695+428G>T) c.*441G>T (n.*441G>T) c.802G>T (p.Gly268Cys) c.814G>T (p.Gly272Cys) c.135+428G>T c.136-239G>T n.850G>T n.270G>T c.733G>T (p.Gly245Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2167007C= | CA1948006055 | TH | c.721G= (p.Gly241=) c.*410G= (n.*410G=) c.695+428G= (n.695+428G=) c.*441G= (n.*441G=) c.802G= (p.Gly268=) c.814G= (p.Gly272=) c.135+428G= c.136-239G= n.850G= n.270G= c.733G= (p.Gly245=) | |
11 | g.2167007C>G | CA379127054 | TH | c.721G>C (p.Gly241Arg) c.*410G>C (n.*410G>C) c.695+428G>C (n.695+428G>C) c.*441G>C (n.*441G>C) c.802G>C (p.Gly268Arg) c.814G>C (p.Gly272Arg) c.135+428G>C c.136-239G>C n.850G>C n.270G>C c.733G>C (p.Gly245Arg) | |
11 | g.2167007C>T | CA379127057 | TH | c.721G>A (p.Gly241Ser) c.*410G>A (n.*410G>A) c.695+428G>A (n.695+428G>A) c.*441G>A (n.*441G>A) c.802G>A (p.Gly268Ser) c.814G>A (p.Gly272Ser) c.135+428G>A c.136-239G>A n.850G>A n.270G>A c.733G>A (p.Gly245Ser) | gnomAD v4 |
11 | g.2167008C>A | CA379127059 | TH | c.720G>T (p.Lys240Asn) c.*409G>T (n.*409G>T) c.695+427G>T (n.695+427G>T) c.*440G>T (n.*440G>T) c.801G>T (p.Lys267Asn) c.813G>T (p.Lys271Asn) c.135+427G>T c.136-240G>T n.849G>T n.269G>T c.732G>T (p.Lys244Asn) | gnomAD v4 |
11 | g.2167008C= | CA1948006059 | TH | c.720G= (p.Lys240=) c.*409G= (n.*409G=) c.695+427G= (n.695+427G=) c.*440G= (n.*440G=) c.801G= (p.Lys267=) c.813G= (p.Lys271=) c.135+427G= c.136-240G= n.849G= n.269G= c.732G= (p.Lys244=) | |
11 | g.2167008C>G | CA379127061 | TH | c.720G>C (p.Lys240Asn) c.*409G>C (n.*409G>C) c.695+427G>C (n.695+427G>C) c.*440G>C (n.*440G>C) c.801G>C (p.Lys267Asn) c.813G>C (p.Lys271Asn) c.135+427G>C c.136-240G>C n.849G>C n.269G>C c.732G>C (p.Lys244Asn) | gnomAD v4 |
11 | g.2167008C>T | CA5818509 | TH | c.720G>A (p.Lys240=) c.*409G>A (n.*409G>A) c.695+427G>A (n.695+427G>A) c.*440G>A (n.*440G>A) c.801G>A (p.Lys267=) c.813G>A (p.Lys271=) c.135+427G>A c.136-240G>A n.849G>A n.269G>A c.732G>A (p.Lys244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |