Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240874541_240875273delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC | CA1339333857 | AGXT | c.680+479_776+69delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC n.333-568_428+69delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC | |
2 | g.240874542_240875273delinsTGAGA | CA275848 | AGXT | c.680+480_776+69delinsTGAGA n.333-567_428+69delinsTGAGA | ClinVar dbSNP |
2 | g.240875157C>A | CA351318138 | AGXT | c.729C>A (p.Asp243Glu) n.381C>A | |
2 | g.240875157C= | CA1339334190 | AGXT | c.729C= (p.Asp243=) n.381C= | |
2 | g.240875157C>G | CA351318140 | AGXT | c.729C>G (p.Asp243Glu) n.381C>G | |
2 | g.240875157C>T | CA432024403 | AGXT | c.729C>T (p.Asp243=) n.381C>T | ClinVar dbSNP gnomAD v4 |
2 | g.240875158A= | CA1339334191 | AGXT | c.730A= (p.Ile244=) n.382A= | |
2 | g.240875158A>C | CA351318141 | AGXT | c.730A>C (p.Ile244Leu) n.382A>C | |
2 | g.240875158A>G | CA2209221 | AGXT | c.730A>G (p.Ile244Val) n.382A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875158A>T | CA351318144 | AGXT | c.730A>T (p.Ile244Phe) n.382A>T | |
2 | g.240875159T>A | CA351318146 | AGXT | c.731T>A (p.Ile244Asn) n.383T>A | ClinVar |
2 | g.240875159T>C | CA340445 | AGXT | c.731T>C (p.Ile244Thr) n.383T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875159T>G | CA351318148 | AGXT | c.731T>G (p.Ile244Ser) n.383T>G | |
2 | g.240875159T= | CA1339334192 | AGXT | c.731T= (p.Ile244=) n.383T= | |
2 | g.240875160C>A | CA2209222 | AGXT | c.732C>A (p.Ile244=) n.384C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875160C= | CA1339334193 | AGXT | c.732C= (p.Ile244=) n.384C= | |
2 | g.240875160C>G | CA68179721 | AGXT | c.732C>G (p.Ile244Met) n.384C>G | dbSNP gnomAD v4 |
2 | g.240875160C>T | CA432024405 | AGXT | c.732C>T (p.Ile244=) n.384C>T | |
2 | g.240875161A>C | CA351318155 | AGXT | c.733A>C (p.Lys245Gln) n.385A>C | |
2 | g.240875161A>G | CA351318157 | AGXT | c.733A>G (p.Lys245Glu) n.385A>G | |
2 | g.240875161A>T | CA351318158 | AGXT | c.733A>T (p.Lys245Ter) n.385A>T | |
2 | g.240875161_240875162del | CA915940274 | AGXT | c.733_734del (p.Lys245ValfsTer9) n.385_386del | ClinVar |
2 | g.240875162A>C | CA351318161 | AGXT | c.734A>C (p.Lys245Thr) n.386A>C | |
2 | g.240875162A>G | CA351318162 | AGXT | c.734A>G (p.Lys245Arg) n.386A>G | |
2 | g.240875162A>T | CA351318164 | AGXT | c.734A>T (p.Lys245Met) n.386A>T | |
2 | g.240875163G>A | CA2209223 | AGXT | c.735G>A (p.Lys245=) n.387G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875163G>C | CA351318167 | AGXT | c.735G>C (p.Lys245Asn) n.387G>C | |
2 | g.240875163G= | CA1339334194 | AGXT | c.735G= (p.Lys245=) n.387G= | |
2 | g.240875163G>T | CA351318169 | AGXT | c.735G>T (p.Lys245Asn) n.387G>T | |
2 | g.240875164T>A | CA351318170 | AGXT | c.736T>A (p.Trp246Arg) n.388T>A | |
2 | g.240875164T>C | CA351318171 | AGXT | c.736T>C (p.Trp246Arg) n.388T>C | gnomAD v4 |
2 | g.240875164T>G | CA351318173 | AGXT | c.736T>G (p.Trp246Gly) n.388T>G | |
2 | g.240875165G>A | CA274296 | AGXT | c.737G>A (p.Trp246Ter) n.389G>A | ClinVar dbSNP |
2 | g.240875165G>C | CA351318175 | AGXT | c.737G>C (p.Trp246Ser) n.389G>C | |
2 | g.240875165G= | CA1339334195 | AGXT | c.737G= (p.Trp246=) n.389G= | |
2 | g.240875165G>T | CA351318174 | AGXT | c.737G>T (p.Trp246Leu) n.389G>T | |
2 | g.240875166G>A | CA340447 | AGXT | c.738G>A (p.Trp246Ter) n.390G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240875166G>C | CA351318176 | AGXT | c.738G>C (p.Trp246Cys) n.390G>C | |
2 | g.240875166G= | CA1339334196 | AGXT | c.738G= (p.Trp246=) n.390G= | |
2 | g.240875166G>T | CA351318177 | AGXT | c.738G>T (p.Trp246Cys) n.390G>T | |
2 | g.240875167C>A | CA351318179 | AGXT | c.739C>A (p.Leu247Met) n.391C>A | |
2 | g.240875167C>G | CA351318181 | AGXT | c.739C>G (p.Leu247Val) n.391C>G | |
2 | g.240875167C>T | CA432024407 | AGXT | c.739C>T (p.Leu247=) n.391C>T | |
2 | g.240875168T>A | CA351318184 | AGXT | c.740T>A (p.Leu247Gln) n.392T>A | |
2 | g.240875168T>C | CA351318185 | AGXT | c.740T>C (p.Leu247Pro) n.392T>C | |
2 | g.240875168T>G | CA2209224 | AGXT | c.740T>G (p.Leu247Arg) n.392T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875168T= | CA1339334197 | AGXT | c.740T= (p.Leu247=) n.392T= | |
2 | g.240875169G>A | CA432024409 | AGXT | c.741G>A (p.Leu247=) n.393G>A | ClinVar dbSNP |
2 | g.240875169G>C | CA432024411 | AGXT | c.741G>C (p.Leu247=) n.393G>C | |
2 | g.240875169G>T | CA432024410 | AGXT | c.741G>T (p.Leu247=) n.393G>T | |
2 | g.240875170G>A | CA68179728 | AGXT | c.742G>A (p.Ala248Thr) n.394G>A | dbSNP |
2 | g.240875170G>C | CA351318189 | AGXT | c.742G>C (p.Ala248Pro) n.394G>C | |
2 | g.240875170G= | CA1339334199 | AGXT | c.742G= (p.Ala248=) n.394G= | |
2 | g.240875170G>T | CA275588 | AGXT | c.742G>T (p.Ala248Ser) n.394G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875170_240875171delinsGC | CA1339334198 | AGXT | c.742_743delinsGC (p.Ala248=) n.394_395delinsGC | |
2 | g.240875171C>A | CA351318193 | AGXT | c.743C>A (p.Ala248Asp) n.395C>A | gnomAD v4 |
2 | g.240875171C= | CA1339334200 | AGXT | c.743C= (p.Ala248=) n.395C= | |
2 | g.240875171C>G | CA351318192 | AGXT | c.743C>G (p.Ala248Gly) n.395C>G | dbSNP gnomAD v4 |
2 | g.240875171C>T | CA2209225 | AGXT | c.743C>T (p.Ala248Val) n.395C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875172del | CA275850 | AGXT | c.744del (p.Asn249ThrfsTer24) n.396del | ClinVar dbSNP |
2 | g.240875172C>A | CA432024412 | AGXT | c.744C>A (p.Ala248=) n.396C>A | |
2 | g.240875172C>G | CA432024413 | AGXT | c.744C>G (p.Ala248=) n.396C>G | |
2 | g.240875172C>T | CA432024414 | AGXT | c.744C>T (p.Ala248=) n.396C>T | |
2 | g.240875173A= | CA1339334201 | AGXT | c.745A= (p.Asn249=) n.397A= | |
2 | g.240875173A>C | CA351318196 | AGXT | c.745A>C (p.Asn249His) n.397A>C | dbSNP |
2 | g.240875173A>G | CA351318199 | AGXT | c.745A>G (p.Asn249Asp) n.397A>G | gnomAD v4 |
2 | g.240875173A>T | CA351318201 | AGXT | c.745A>T (p.Asn249Tyr) n.397A>T | |
2 | g.240875174A>C | CA351318203 | AGXT | c.746A>C (p.Asn249Thr) n.398A>C | |
2 | g.240875174A>G | CA351318206 | AGXT | c.746A>G (p.Asn249Ser) n.398A>G | |
2 | g.240875174A>T | CA351318207 | AGXT | c.746A>T (p.Asn249Ile) n.398A>T | |
2 | g.240875175C>A | CA351318209 | AGXT | c.747C>A (p.Asn249Lys) n.399C>A | |
2 | g.240875175C>G | CA351318210 | AGXT | c.747C>G (p.Asn249Lys) n.399C>G | |
2 | g.240875175C>T | CA432024415 | AGXT | c.747C>T (p.Asn249=) n.399C>T | |
2 | g.240875176T>A | CA351318211 | AGXT | c.748T>A (p.Phe250Ile) n.400T>A | |
2 | g.240875176T>C | CA351318212 | AGXT | c.748T>C (p.Phe250Leu) n.400T>C | |
2 | g.240875176T>G | CA351318213 | AGXT | c.748T>G (p.Phe250Val) n.400T>G | COSMIC |
2 | g.240875177T>A | CA351318215 | AGXT | c.749T>A (p.Phe250Tyr) n.401T>A | |
2 | g.240875177T>C | CA351318216 | AGXT | c.749T>C (p.Phe250Ser) n.401T>C | |
2 | g.240875177T>G | CA351318214 | AGXT | c.749T>G (p.Phe250Cys) n.401T>G | |
2 | g.240875178C>A | CA351318218 | AGXT | c.750C>A (p.Phe250Leu) n.402C>A | |
2 | g.240875178C>G | CA351318217 | AGXT | c.750C>G (p.Phe250Leu) n.402C>G | |
2 | g.240875178C>T | CA432024416 | AGXT | c.750C>T (p.Phe250=) n.402C>T | |
2 | g.240875179T>A | CA351318219 | AGXT | c.751T>A (p.Trp251Arg) n.403T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875179T>C | CA2209226 | AGXT | c.751T>C (p.Trp251Arg) n.403T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875179T>G | CA351318220 | AGXT | c.751T>G (p.Trp251Gly) n.403T>G | |
2 | g.240875179T= | CA1339334203 | AGXT | c.751T= (p.Trp251=) n.403T= | |
2 | g.240875179_240875180delinsAA | CA275851 | AGXT | c.751_752delinsAA (p.Trp251Lys) n.403_404delinsAA | ClinVar dbSNP |
2 | g.240875179_240875180delinsTG | CA1339334202 | AGXT | c.751_752delinsTG (p.Trp251=) n.403_404delinsTG | |
2 | g.240875180G>A | CA274094 | AGXT | c.752G>A (p.Trp251Ter) n.404G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875180G>C | CA351318222 | AGXT | c.752G>C (p.Trp251Ser) n.404G>C | gnomAD v4 |
2 | g.240875180G= | CA1339334204 | AGXT | c.752G= (p.Trp251=) n.404G= | |
2 | g.240875180G>T | CA351318221 | AGXT | c.752G>T (p.Trp251Leu) n.404G>T | |
2 | g.240875181G>A | CA275734 | AGXT | c.753G>A (p.Trp251Ter) n.405G>A | ClinVar dbSNP |
2 | g.240875181G>C | CA351318223 | AGXT | c.753G>C (p.Trp251Cys) n.405G>C | |
2 | g.240875181G= | CA1339334205 | AGXT | c.753G= (p.Trp251=) n.405G= | |
2 | g.240875181G>T | CA351318224 | AGXT | c.753G>T (p.Trp251Cys) n.405G>T | |
2 | g.240875182G>A | CA351318225 | AGXT | c.754G>A (p.Gly252Ser) n.406G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875182G>C | CA351318226 | AGXT | c.754G>C (p.Gly252Arg) n.406G>C | |
2 | g.240875182G= | CA1339334206 | AGXT | c.754G= (p.Gly252=) n.406G= | |
2 | g.240875182G>T | CA351318227 | AGXT | c.754G>T (p.Gly252Cys) n.406G>T | |
2 | g.240875183G>A | CA351318228 | AGXT | c.755G>A (p.Gly252Asp) n.407G>A | |
2 | g.240875183G>C | CA351318230 | AGXT | c.755G>C (p.Gly252Ala) n.407G>C | |
2 | g.240875183G>T | CA351318229 | AGXT | c.755G>T (p.Gly252Val) n.407G>T | gnomAD v4 |
2 | g.240875184C>A | CA432024419 | AGXT | c.756C>A (p.Gly252=) n.408C>A | |
2 | g.240875184C>G | CA432024421 | AGXT | c.756C>G (p.Gly252=) n.408C>G | |
2 | g.240875184C>T | CA432024418 | AGXT | c.756C>T (p.Gly252=) n.408C>T | |
2 | g.240875185T>A | CA351318231 | AGXT | c.757T>A (p.Cys253Ser) n.409T>A | |
2 | g.240875185T>C | CA275736 | AGXT | c.757T>C (p.Cys253Arg) n.409T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875185T>G | CA351318232 | AGXT | c.757T>G (p.Cys253Gly) n.409T>G | |
2 | g.240875185T= | CA1339334207 | AGXT | c.757T= (p.Cys253=) n.409T= | |
2 | g.240875187_240875188del | CA2577302676 | AGXT | c.759_760del (p.Cys253Ter) n.411_412del | |
2 | g.240875186G>A | CA351318233 | AGXT | c.758G>A (p.Cys253Tyr) n.410G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875186G>C | CA2209227 | AGXT | c.758G>C (p.Cys253Ser) n.410G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875186G= | CA1339334208 | AGXT | c.758G= (p.Cys253=) n.410G= | |
2 | g.240875186G>T | CA351318234 | AGXT | c.758G>T (p.Cys253Phe) n.410G>T | COSMIC |
2 | g.240875187T>A | CA351318235 | AGXT | c.759T>A (p.Cys253Ter) n.411T>A | |
2 | g.240875187T>C | CA432024422 | AGXT | c.759T>C (p.Cys253=) n.411T>C | ClinVar dbSNP gnomAD v4 |
2 | g.240875187T>G | CA351318236 | AGXT | c.759T>G (p.Cys253Trp) n.411T>G | |
2 | g.240875188G>A | CA351318237 | AGXT | c.760G>A (p.Asp254Asn) n.412G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875188G>C | CA351318238 | AGXT | c.760G>C (p.Asp254His) n.412G>C | |
2 | g.240875188G= | CA1339334209 | AGXT | c.760G= (p.Asp254=) n.412G= | |
2 | g.240875188G>T | CA351318239 | AGXT | c.760G>T (p.Asp254Tyr) n.412G>T | |
2 | g.240875188_240875189insT | CA2697550618 | AGXT | c.760_761insT (p.Asp254ValfsTer?) n.412_413insT | ClinVar |
2 | g.240875189A= | CA1339334210 | AGXT | c.761A= (p.Asp254=) n.413A= | |
2 | g.240875189A>C | CA351318242 | AGXT | c.761A>C (p.Asp254Ala) n.413A>C | dbSNP |
2 | g.240875189A>G | CA351318241 | AGXT | c.761A>G (p.Asp254Gly) n.413A>G | |
2 | g.240875189A>T | CA351318240 | AGXT | c.761A>T (p.Asp254Val) n.413A>T | |
2 | g.240875190C>A | CA351318243 | AGXT | c.762C>A (p.Asp254Glu) n.414C>A | |
2 | g.240875190C= | CA1339334211 | AGXT | c.762C= (p.Asp254=) n.414C= | |
2 | g.240875190C>G | CA351318244 | AGXT | c.762C>G (p.Asp254Glu) n.414C>G | |
2 | g.240875190C>T | CA2209228 | AGXT | c.762C>T (p.Asp254=) n.414C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875191G>A | CA2209229 | AGXT | c.763G>A (p.Asp255Asn) n.415G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875191G>C | CA351318245 | AGXT | c.763G>C (p.Asp255His) n.415G>C | |
2 | g.240875191G= | CA1339334212 | AGXT | c.763G= (p.Asp255=) n.415G= | |
2 | g.240875191G>T | CA351318246 | AGXT | c.763G>T (p.Asp255Tyr) n.415G>T | gnomAD v4 |
2 | g.240875192A>C | CA351318247 | AGXT | c.764A>C (p.Asp255Ala) n.416A>C | |
2 | g.240875192A>G | CA351318248 | AGXT | c.764A>G (p.Asp255Gly) n.416A>G | gnomAD v4 |
2 | g.240875192A>T | CA351318249 | AGXT | c.764A>T (p.Asp255Val) n.416A>T | |
2 | g.240875193C>A | CA351318250 | AGXT | c.765C>A (p.Asp255Glu) n.417C>A | |
2 | g.240875193C= | CA1339334213 | AGXT | c.765C= (p.Asp255=) n.417C= | |
2 | g.240875193C>G | CA351318251 | AGXT | c.765C>G (p.Asp255Glu) n.417C>G | |
2 | g.240875193C>T | CA432024426 | AGXT | c.765C>T (p.Asp255=) n.417C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875194del | CA2586971641 | AGXT | c.766del (p.Gln256SerfsTer17) n.418del | ClinVar |
2 | g.240875194C>A | CA351318252 | AGXT | c.766C>A (p.Gln256Lys) n.418C>A | |
2 | g.240875194C>G | CA351318253 | AGXT | c.766C>G (p.Gln256Glu) n.418C>G | |
2 | g.240875194C>T | CA351318254 | AGXT | c.766C>T (p.Gln256Ter) n.418C>T | |
2 | g.240875195A>C | CA351318257 | AGXT | c.767A>C (p.Gln256Pro) n.419A>C | |
2 | g.240875195A>G | CA351318256 | AGXT | c.767A>G (p.Gln256Arg) n.419A>G | |
2 | g.240875195A>T | CA351318255 | AGXT | c.767A>T (p.Gln256Leu) n.419A>T | |
2 | g.240875196G>A | CA432024429 | AGXT | c.768G>A (p.Gln256=) n.420G>A | |
2 | g.240875196G>C | CA351318258 | AGXT | c.768G>C (p.Gln256His) n.420G>C | |
2 | g.240875196G>T | CA351318259 | AGXT | c.768G>T (p.Gln256His) n.420G>T | gnomAD v4 |
2 | g.240875197C>A | CA351318260 | AGXT | c.769C>A (p.Pro257Thr) n.421C>A | |
2 | g.240875197C>G | CA351318261 | AGXT | c.769C>G (p.Pro257Ala) n.421C>G | |
2 | g.240875197C>T | CA351318262 | AGXT | c.769C>T (p.Pro257Ser) n.421C>T | |
2 | g.240875198C>A | CA2209230 | AGXT | c.770C>A (p.Pro257His) n.422C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875198C= | CA1339334214 | AGXT | c.770C= (p.Pro257=) n.422C= | |
2 | g.240875198C>G | CA351318263 | AGXT | c.770C>G (p.Pro257Arg) n.422C>G | |
2 | g.240875198C>T | CA351318264 | AGXT | c.770C>T (p.Pro257Leu) n.422C>T | dbSNP |
2 | g.240875199C>A | CA432024432 | AGXT | c.771C>A (p.Pro257=) n.423C>A | ClinVar |
2 | g.240875199C= | CA1339334215 | AGXT | c.771C= (p.Pro257=) n.423C= | |
2 | g.240875199C>G | CA432024433 | AGXT | c.771C>G (p.Pro257=) n.423C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875199C>T | CA432024434 | AGXT | c.771C>T (p.Pro257=) n.423C>T | gnomAD v4 |
2 | g.240875200A>C | CA432024435 | AGXT | c.772A>C (p.Arg258=) n.424A>C | |
2 | g.240875200A>G | CA351318265 | AGXT | c.772A>G (p.Arg258Gly) n.424A>G | gnomAD v4 |
2 | g.240875200A>T | CA351318266 | AGXT | c.772A>T (p.Arg258Trp) n.424A>T | |
2 | g.240875201G>A | CA351318267 | AGXT | c.773G>A (p.Arg258Lys) n.425G>A | |
2 | g.240875201G>C | CA351318268 | AGXT | c.773G>C (p.Arg258Thr) n.425G>C | gnomAD v4 |
2 | g.240875201G>T | CA351318269 | AGXT | c.773G>T (p.Arg258Met) n.425G>T | |
2 | g.240875202G>A | CA432024439 | AGXT | c.774G>A (p.Arg258=) n.426G>A | ClinVar gnomAD v4 COSMIC |
2 | g.240875202G>C | CA351318270 | AGXT | c.774G>C (p.Arg258Ser) n.426G>C | |
2 | g.240875202G= | CA1339334216 | AGXT | c.774G= (p.Arg258=) n.426G= | |
2 | g.240875202G>T | CA2209231 | AGXT | c.774G>T (p.Arg258Ser) n.426G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875203A= | CA1339334217 | AGXT | c.775A= (p.Met259=) n.427A= | |
2 | g.240875203A>C | CA68179741 | AGXT | c.775A>C (p.Met259Leu) n.427A>C | dbSNP gnomAD v4 |
2 | g.240875203A>G | CA351318272 | AGXT | c.775A>G (p.Met259Val) n.427A>G | |
2 | g.240875203A>T | CA351318271 | AGXT | c.775A>T (p.Met259Leu) n.427A>T | |
2 | g.240875204T>A | CA351318273 | AGXT | c.776T>A (p.Met259Lys) n.428T>A | |
2 | g.240875204T>C | CA351318275 | AGXT | c.776T>C (p.Met259Thr) n.428T>C | dbSNP gnomAD v4 |
2 | g.240875204T>G | CA351318274 | AGXT | c.776T>G (p.Met259Arg) n.428T>G | |
2 | g.240875204T= | CA1339334218 | AGXT | c.776T= (p.Met259=) n.428T= | |
2 | g.240875205G>A | CA275797 | AGXT | c.776+1G>A (n.776+1G>A) n.428+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875205G>C | CA275798 | AGXT | c.776+1G>C (n.776+1G>C) n.428+1G>C | ClinVar dbSNP gnomAD v4 |
2 | g.240875205G= | CA1339334219 | AGXT | c.776+1G= (n.776+1G=) n.428+1G= | |
2 | g.240875205G>T | CA351318276 | AGXT | c.776+1G>T (n.776+1G>T) n.428+1G>T | |
2 | g.240875206T>A | CA351318277 | AGXT | c.776+2T>A (n.776+2T>A) n.428+2T>A | |
2 | g.240875206T>C | CA351318279 | AGXT | c.776+2T>C (n.776+2T>C) n.428+2T>C | |
2 | g.240875206T>G | CA351318278 | AGXT | c.776+2T>G (n.776+2T>G) n.428+2T>G | ClinVar dbSNP gnomAD v4 |
2 | g.240875206T= | CA1339334220 | AGXT | c.776+2T= (n.776+2T=) n.428+2T= | |
2 | g.240875207del | CA2577302677 | AGXT | c.776+3del (n.776+3del) n.428+3del | ClinVar |
2 | g.240875209G= | CA1339334221 | AGXT | c.776+5G= (n.776+5G=) n.428+5G= | |
2 | g.240875209G>T | CA2209232 | AGXT | c.776+5G>T (n.776+5G>T) n.428+5G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875210G>A | CA2664009078 | AGXT | c.776+6G>A (n.776+6G>A) n.428+6G>A | gnomAD v4 |
2 | g.240875211C>A | CA2580068038 | AGXT | c.776+7C>A (n.776+7C>A) n.428+7C>A | ClinVar |
2 | g.240875212C>T | CA2577302678 | AGXT | c.776+8C>T (n.776+8C>T) n.428+8C>T | |
2 | g.240875214G>T | CA2664009079 | AGXT | c.776+10G>T (n.776+10G>T) n.428+10G>T | gnomAD v4 |
2 | g.240875215G>A | CA68179746 | AGXT | c.776+11G>A (n.776+11G>A) n.428+11G>A | dbSNP |
2 | g.240875215G= | CA1339334222 | AGXT | c.776+11G= (n.776+11G=) n.428+11G= | |
2 | g.240875215G>T | CA540536936 | AGXT | c.776+11G>T (n.776+11G>T) n.428+11G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875216C>A | CA766965078 | AGXT | c.776+12C>A (n.776+12C>A) n.428+12C>A | dbSNP gnomAD v4 |
2 | g.240875216C= | CA1339334223 | AGXT | c.776+12C= (n.776+12C=) n.428+12C= | |
2 | g.240875216C>G | CA2664009080 | AGXT | c.776+12C>G (n.776+12C>G) n.428+12C>G | gnomAD v4 |
2 | g.240875216C>T | CA2664009081 | AGXT | c.776+12C>T (n.776+12C>T) n.428+12C>T | gnomAD v4 |
2 | g.240875218G>A | CA2664009082 | AGXT | c.776+14G>A (n.776+14G>A) n.428+14G>A | gnomAD v4 |
2 | g.240875219G>A | CA2664009083 | AGXT | c.776+15G>A (n.776+15G>A) n.428+15G>A | ClinVar gnomAD v4 |
2 | g.240875220G>A | CA540536939 | AGXT | c.776+16G>A (n.776+16G>A) n.428+16G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875220G= | CA1339334224 | AGXT | c.776+16G= (n.776+16G=) n.428+16G= | |
2 | g.240875222T>C | CA2664009084 | AGXT | c.776+18T>C (n.776+18T>C) n.428+18T>C | gnomAD v4 |
2 | g.240875222_240875223delinsTG | CA1339334225 | AGXT | c.776+18_776+19delinsTG (n.776+18_776+19delinsTG) n.428+18_428+19delinsTG | |
2 | g.240875223G>A | CA2577302679 | AGXT | c.776+19G>A (n.776+19G>A) n.428+19G>A | |
2 | g.240875225del | CA2209233 | AGXT | c.776+21del (n.776+21del) n.428+21del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875224G>A | CA540536945 | AGXT | c.776+20G>A (n.776+20G>A) n.428+20G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875224G= | CA1339334226 | AGXT | c.776+20G= (n.776+20G=) n.428+20G= | |
2 | g.240875225G>C | CA2577302680 | AGXT | c.776+21G>C (n.776+21G>C) n.428+21G>C | |
2 | g.240875226A= | CA1339334227 | AGXT | c.776+22A= (n.776+22A=) n.428+22A= | |
2 | g.240875226A>T | CA1339334228 | AGXT | c.776+22A>T (n.776+22A>T) n.428+22A>T | dbSNP |
2 | g.240875227del | CA2664009085 | AGXT | c.776+23del (n.776+23del) n.428+23del | gnomAD v4 |
2 | g.240875227A= | CA1339334229 | AGXT | c.776+23A= (n.776+23A=) n.428+23A= | |
2 | g.240875227A>G | CA540536947 | AGXT | c.776+23A>G (n.776+23A>G) n.428+23A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875228G>A | CA2664009086 | AGXT | c.776+24G>A (n.776+24G>A) n.428+24G>A | gnomAD v4 |
2 | g.240875229G>A | CA2664009087 | AGXT | c.776+25G>A (n.776+25G>A) n.428+25G>A | gnomAD v4 |
2 | g.240875230T>G | CA1339334231 | AGXT | c.776+26T>G (n.776+26T>G) n.428+26T>G | dbSNP |
2 | g.240875230T= | CA1339334230 | AGXT | c.776+26T= (n.776+26T=) n.428+26T= | |
2 | g.240875231G>A | CA1339334234 | AGXT | c.776+27G>A (n.776+27G>A) n.428+27G>A | dbSNP gnomAD v4 |
2 | g.240875231G= | CA1339334233 | AGXT | c.776+27G= (n.776+27G=) n.428+27G= | |
2 | g.240875231G>T | CA1339334232 | AGXT | c.776+27G>T (n.776+27G>T) n.428+27G>T | dbSNP gnomAD v4 |
2 | g.240875232G>A | CA2209234 | AGXT | c.776+28G>A (n.776+28G>A) n.428+28G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875232G>C | CA540536948 | AGXT | c.776+28G>C (n.776+28G>C) n.428+28G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875232G= | CA1339334235 | AGXT | c.776+28G= (n.776+28G=) n.428+28G= | |
2 | g.240875232G>T | CA2664009088 | AGXT | c.776+28G>T (n.776+28G>T) n.428+28G>T | gnomAD v4 |
2 | g.240875233A>G | CA2664009089 | AGXT | c.776+29A>G (n.776+29A>G) n.428+29A>G | gnomAD v4 |
2 | g.240875234G>A | CA2664009090 | AGXT | c.776+30G>A (n.776+30G>A) n.428+30G>A | gnomAD v4 |
2 | g.240875234G>T | CA2577302681 | AGXT | c.776+30G>T (n.776+30G>T) n.428+30G>T | gnomAD v4 |
2 | g.240875236G>A | CA1044068949 | AGXT | c.776+32G>A (n.776+32G>A) n.428+32G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875236G= | CA1339334236 | AGXT | c.776+32G= (n.776+32G=) n.428+32G= | |
2 | g.240875237C>A | CA2664009091 | AGXT | c.776+33C>A (n.776+33C>A) n.428+33C>A | gnomAD v4 |
2 | g.240875237C= | CA1339334237 | AGXT | c.776+33C= (n.776+33C=) n.428+33C= | |
2 | g.240875237C>T | CA68179750 | AGXT | c.776+33C>T (n.776+33C>T) n.428+33C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875238G>A | CA2209236 | AGXT | c.776+34G>A (n.776+34G>A) n.428+34G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875238G>C | CA2209237 | AGXT | c.776+34G>C (n.776+34G>C) n.428+34G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875238G= | CA1339334238 | AGXT | c.776+34G= (n.776+34G=) n.428+34G= | |
2 | g.240875238G>T | CA2209235 | AGXT | c.776+34G>T (n.776+34G>T) n.428+34G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875240T>A | CA2577302682 | AGXT | c.776+36T>A (n.776+36T>A) n.428+36T>A | |
2 | g.240875241G>A | CA540536957 | AGXT | c.776+37G>A (n.776+37G>A) n.428+37G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875241G= | CA1339334239 | AGXT | c.776+37G= (n.776+37G=) n.428+37G= | |
2 | g.240875242G>A | CA766965093 | AGXT | c.776+38G>A (n.776+38G>A) n.428+38G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875242G= | CA1339334240 | AGXT | c.776+38G= (n.776+38G=) n.428+38G= | |
2 | g.240875243G>A | CA766965095 | AGXT | c.776+39G>A (n.776+39G>A) n.428+39G>A | dbSNP gnomAD v4 |
2 | g.240875243G= | CA1339334241 | AGXT | c.776+39G= (n.776+39G=) n.428+39G= | |
2 | g.240875244C>A | CA2664009092 | AGXT | c.776+40C>A (n.776+40C>A) n.428+40C>A | gnomAD v4 |
2 | g.240875245A= | CA1339334242 | AGXT | c.776+41A= (n.776+41A=) n.428+41A= | |
2 | g.240875245A>G | CA2209238 | AGXT | c.776+41A>G (n.776+41A>G) n.428+41A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875245A>T | CA2664009093 | AGXT | c.776+41A>T (n.776+41A>T) n.428+41A>T | gnomAD v4 |
2 | g.240875246T>C | CA2664009094 | AGXT | c.776+42T>C (n.776+42T>C) n.428+42T>C | gnomAD v4 |
2 | g.240875247G>A | CA68179757 | AGXT | c.776+43G>A (n.776+43G>A) n.428+43G>A | dbSNP gnomAD v4 |
2 | g.240875247G= | CA1339334243 | AGXT | c.776+43G= (n.776+43G=) n.428+43G= | |
2 | g.240875249C>A | CA2577302683 | AGXT | c.776+45C>A (n.776+45C>A) n.428+45C>A | gnomAD v4 |
2 | g.240875250T>G | CA2209239 | AGXT | c.776+46T>G (n.776+46T>G) n.428+46T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875250T= | CA1339334244 | AGXT | c.776+46T= (n.776+46T=) n.428+46T= | |
2 | g.240875251G>A | CA2577302684 | AGXT | c.776+47G>A (n.776+47G>A) n.428+47G>A | gnomAD v4 |
2 | g.240875253G>A | CA2209240 | AGXT | c.776+49G>A (n.776+49G>A) n.428+49G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875253G= | CA1339334245 | AGXT | c.776+49G= (n.776+49G=) n.428+49G= | |
2 | g.240875257_240875267del | CA2664009095 | AGXT | c.776+53_776+63del (n.776+53_776+63del) n.428+53_428+63del | gnomAD v4 |
2 | g.240875256G>A | CA540536960 | AGXT | c.776+52G>A (n.776+52G>A) n.428+52G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875256G= | CA1339334246 | AGXT | c.776+52G= (n.776+52G=) n.428+52G= | |
2 | g.240875257T>C | CA2664009096 | AGXT | c.776+53T>C (n.776+53T>C) n.428+53T>C | gnomAD v4 |
2 | g.240875257T>G | CA1339334247 | AGXT | c.776+53T>G (n.776+53T>G) n.428+53T>G | dbSNP |
2 | g.240875257T= | CA1339334248 | AGXT | c.776+53T= (n.776+53T=) n.428+53T= | |
2 | g.240875257_240875258delinsTG | CA1339334249 | AGXT | c.776+53_776+54delinsTG (n.776+53_776+54delinsTG) n.428+53_428+54delinsTG |