Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627298_50627364del | CA2697552823 | ARSA | c.269_335del (p.Tyr90SerfsTer?) c.11_77del (p.Tyr4SerfsTer?) n.660_726del | ClinVar |
22 | g.50627316C>A | CA412181301 | ARSA | c.315G>T (p.Glu105Asp) c.57G>T (p.Glu19Asp) n.706G>T | |
22 | g.50627316C>G | CA412181303 | ARSA | c.315G>C (p.Glu105Asp) c.57G>C (p.Glu19Asp) n.706G>C | |
22 | g.50627316C>T | CA515391554 | ARSA | c.315G>A (p.Glu105=) c.57G>A (p.Glu19=) n.706G>A | |
22 | g.50627317T>A | CA412181316 | ARSA | c.314A>T (p.Glu105Val) c.56A>T (p.Glu19Val) n.705A>T | |
22 | g.50627317T>C | CA412181315 | ARSA | c.314A>G (p.Glu105Gly) c.56A>G (p.Glu19Gly) n.705A>G | gnomAD v4 |
22 | g.50627317T>G | CA412181311 | ARSA | c.314A>C (p.Glu105Ala) c.56A>C (p.Glu19Ala) n.705A>C | |
22 | g.50627318C>A | CA412181317 | ARSA | c.313G>T (p.Glu105Ter) c.55G>T (p.Glu19Ter) n.704G>T | gnomAD v4 |
22 | g.50627318C>G | CA412181318 | ARSA | c.313G>C (p.Glu105Gln) c.55G>C (p.Glu19Gln) n.704G>C | |
22 | g.50627318C>T | CA412181320 | ARSA | c.313G>A (p.Glu105Lys) c.55G>A (p.Glu19Lys) n.704G>A | |
22 | g.50627319C>A | CA515391555 | ARSA | c.312G>T (p.Leu104=) c.54G>T (p.Leu18=) n.703G>T | |
22 | g.50627319C>G | CA515391556 | ARSA | c.312G>C (p.Leu104=) c.54G>C (p.Leu18=) n.703G>C | |
22 | g.50627319C>T | CA515391557 | ARSA | c.312G>A (p.Leu104=) c.54G>A (p.Leu18=) n.703G>A | ClinVar |
22 | g.50627320del | CA2580099998 | ARSA | c.311del (p.Leu104ArgfsTer4) c.53del (p.Leu18ArgfsTer4) n.702del | ClinVar |
22 | g.50627320A= | CA2410959546 | ARSA | c.311T= (p.Leu104=) c.53T= (p.Leu18=) n.702T= | |
22 | g.50627320A>C | CA412181321 | ARSA | c.311T>G (p.Leu104Arg) c.53T>G (p.Leu18Arg) n.702T>G | gnomAD v4 |
22 | g.50627320A>G | CA325531593 | ARSA | c.311T>C (p.Leu104Pro) c.53T>C (p.Leu18Pro) n.702T>C | dbSNP gnomAD v4 |
22 | g.50627320A>T | CA412181340 | ARSA | c.311T>A (p.Leu104Gln) c.53T>A (p.Leu18Gln) n.702T>A | gnomAD v4 |
22 | g.50627321G>A | CA515391558 | ARSA | c.310C>T (p.Leu104=) c.52C>T (p.Leu18=) n.701C>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627321G>C | CA412181348 | ARSA | c.310C>G (p.Leu104Val) c.52C>G (p.Leu18Val) n.701C>G | |
22 | g.50627321G>T | CA412181351 | ARSA | c.310C>A (p.Leu104Met) c.52C>A (p.Leu18Met) n.701C>A | gnomAD v4 |
22 | g.50627324del | CA2657593945 | ARSA | c.310del (p.Leu104TrpfsTer4) c.52del (p.Leu18TrpfsTer4) n.701del | gnomAD v4 |
22 | g.50627322G>A | CA10325057 | ARSA | c.309C>T (p.Pro103=) c.51C>T (p.Pro17=) n.700C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627322G>C | CA515391559 | ARSA | c.309C>G (p.Pro103=) c.51C>G (p.Pro17=) n.700C>G | |
22 | g.50627322G= | CA2410959547 | ARSA | c.309C= (p.Pro103=) c.51C= (p.Pro17=) n.700C= | |
22 | g.50627322G>T | CA515391560 | ARSA | c.309C>A (p.Pro103=) c.51C>A (p.Pro17=) n.700C>A | |
22 | g.50627323G>A | CA412181367 | ARSA | c.308C>T (p.Pro103Leu) c.50C>T (p.Pro17Leu) n.699C>T | gnomAD v4 |
22 | g.50627323G>C | CA412181375 | ARSA | c.308C>G (p.Pro103Arg) c.50C>G (p.Pro17Arg) n.699C>G | ClinVar |
22 | g.50627323G>T | CA412181378 | ARSA | c.308C>A (p.Pro103His) c.50C>A (p.Pro17His) n.699C>A | gnomAD v4 |
22 | g.50627324G>A | CA412181390 | ARSA | c.307C>T (p.Pro103Ser) c.49C>T (p.Pro17Ser) n.698C>T | gnomAD v4 |
22 | g.50627324G>C | CA412181386 | ARSA | c.307C>G (p.Pro103Ala) c.49C>G (p.Pro17Ala) n.698C>G | |
22 | g.50627324G>T | CA412181383 | ARSA | c.307C>A (p.Pro103Thr) c.49C>A (p.Pro17Thr) n.698C>A | gnomAD v4 |
22 | g.50627325C>A | CA515391561 | ARSA | c.306G>T (p.Leu102=) c.48G>T (p.Leu16=) n.697G>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627325C= | CA2410959548 | ARSA | c.306G= (p.Leu102=) c.48G= (p.Leu16=) n.697G= | |
22 | g.50627325C>G | CA515391562 | ARSA | c.306G>C (p.Leu102=) c.48G>C (p.Leu16=) n.697G>C | |
22 | g.50627325C>T | CA10325058 | ARSA | c.306G>A (p.Leu102=) c.48G>A (p.Leu16=) n.697G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627326A>C | CA412181392 | ARSA | c.305T>G (p.Leu102Arg) c.47T>G (p.Leu16Arg) n.696T>G | |
22 | g.50627326A>G | CA412181395 | ARSA | c.305T>C (p.Leu102Pro) c.47T>C (p.Leu16Pro) n.696T>C | gnomAD v4 |
22 | g.50627326A>T | CA412181396 | ARSA | c.305T>A (p.Leu102Gln) c.47T>A (p.Leu16Gln) n.696T>A | |
22 | g.50627326_50627327delinsAG | CA2410959549 | ARSA | c.304_305delinsCT (p.Leu102=) c.46_47delinsCT (p.Leu16=) n.695_696delinsCT | |
22 | g.50627327G>A | CA515391563 | ARSA | c.304C>T (p.Leu102=) c.46C>T (p.Leu16=) n.695C>T | gnomAD v4 |
22 | g.50627327G>C | CA412181399 | ARSA | c.304C>G (p.Leu102Val) c.46C>G (p.Leu16Val) n.695C>G | |
22 | g.50627327G>T | CA412181401 | ARSA | c.304C>A (p.Leu102Met) c.46C>A (p.Leu16Met) n.695C>A | gnomAD v4 |
22 | g.50627328del | CA278486 | ARSA | c.304del (p.Leu102CysfsTer6) c.46del (p.Leu16CysfsTer6) n.695del | ClinVar dbSNP gnomAD v4 |
22 | g.50627328G>A | CA10325061 | ARSA | c.303C>T (p.Gly101=) c.45C>T (p.Gly15=) n.694C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627328G>C | CA515391565 | ARSA | c.303C>G (p.Gly101=) c.45C>G (p.Gly15=) n.694C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627328G= | CA2410959551 | ARSA | c.303C= (p.Gly101=) c.45C= (p.Gly15=) n.694C= | |
22 | g.50627328G>T | CA515391564 | ARSA | c.303C>A (p.Gly101=) c.45C>A (p.Gly15=) n.694C>A | dbSNP gnomAD v4 |
22 | g.50627328_50627329delinsAA | CA2573158322 | ARSA | c.302_303delinsTT (p.Gly101Val) c.44_45delinsTT (p.Gly15Val) n.693_694delinsTT | ClinVar dbSNP |
22 | g.50627328_50627329delinsGC | CA2410959550 | ARSA | c.302_303delinsGC (p.Gly101=) c.44_45delinsGC (p.Gly15=) n.693_694delinsGC |