UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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 | |
| 22 | g.50627329C>A | CA219014 | ARSA | c.302G>T (p.Gly101Val) c.44G>T (p.Gly15Val) n.693G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627329C= | CA2410959552 | ARSA | c.302G= (p.Gly101=) c.44G= (p.Gly15=) n.693G= | |
| 22 | g.50627329C>G | CA412181454 | ARSA | c.302G>C (p.Gly101Ala) c.44G>C (p.Gly15Ala) n.693G>C | gnomAD v4 |
| 22 | g.50627329C>T | CA115958 | ARSA | c.302G>A (p.Gly101Asp) c.44G>A (p.Gly15Asp) n.693G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627335dup | CA10325060 | ARSA | c.302dup (p.Leu102ProfsTer?) c.44dup (p.Leu16ProfsTer?) n.693dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627334_50627335dup | CA2819314736 | ARSA | c.301_302dup (p.Leu102AlafsTer7) c.43_44dup (p.Leu16AlafsTer7) n.692_693dup | |
| 22 | g.50627335del | CA10325059 | ARSA | c.302del (p.Gly101AlafsTer7) c.44del (p.Gly15AlafsTer7) n.693del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50627330C>A | CA325531597 | ARSA | c.301G>T (p.Gly101Cys) c.43G>T (p.Gly15Cys) n.692G>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627330C= | CA2410959553 | ARSA | c.301G= (p.Gly101=) c.43G= (p.Gly15=) n.692G= | |
| 22 | g.50627330C>G | CA412181467 | ARSA | c.301G>C (p.Gly101Arg) c.43G>C (p.Gly15Arg) n.692G>C | gnomAD v4 |
| 22 | g.50627330C>T | CA412181468 | ARSA | c.301G>A (p.Gly101Ser) c.43G>A (p.Gly15Ser) n.692G>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627331C>A | CA515391566 | ARSA | c.300G>T (p.Gly100=) c.42G>T (p.Gly14=) n.691G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627331C= | CA2410959554 | ARSA | c.300G= (p.Gly100=) c.42G= (p.Gly14=) n.691G= | |
| 22 | g.50627331C>G | CA515391567 | ARSA | c.300G>C (p.Gly100=) c.42G>C (p.Gly14=) n.691G>C | ClinVar dbSNP |
| 22 | g.50627331C>T | CA515391568 | ARSA | c.300G>A (p.Gly100=) c.42G>A (p.Gly14=) n.691G>A | ClinVar |
| 22 | g.50627332C>A | CA412181474 | ARSA | c.299G>T (p.Gly100Val) c.41G>T (p.Gly14Val) n.690G>T | gnomAD v4 |
| 22 | g.50627332C= | CA2410959555 | ARSA | c.299G= (p.Gly100=) c.41G= (p.Gly14=) n.690G= | |
| 22 | g.50627332C>G | CA412181482 | ARSA | c.299G>C (p.Gly100Ala) c.41G>C (p.Gly14Ala) n.690G>C | gnomAD v4 |
| 22 | g.50627332C>T | CA412181483 | ARSA | c.299G>A (p.Gly100Glu) c.41G>A (p.Gly14Glu) n.690G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627333C>A | CA412181486 | ARSA | c.298G>T (p.Gly100Trp) c.40G>T (p.Gly14Trp) n.689G>T | |
| 22 | g.50627333C= | CA2410959556 | ARSA | c.298G= (p.Gly100=) c.40G= (p.Gly14=) n.689G= | |
| 22 | g.50627333C>G | CA10325062 | ARSA | c.298G>C (p.Gly100Arg) c.40G>C (p.Gly14Arg) n.689G>C | dbSNP ExAC gnomAD v2 |
| 22 | g.50627333C>T | CA412181492 | ARSA | c.298G>A (p.Gly100Arg) c.40G>A (p.Gly14Arg) n.689G>A | dbSNP gnomAD v4 |
| 22 | g.50627334C>A | CA515391569 | ARSA | c.297G>T (p.Arg99=) c.39G>T (p.Arg13=) n.688G>T | |
| 22 | g.50627334C= | CA2410959557 | ARSA | c.297G= (p.Arg99=) c.39G= (p.Arg13=) n.688G= | |
| 22 | g.50627334C>G | CA325531599 | ARSA | c.297G>C (p.Arg99=) c.39G>C (p.Arg13=) n.688G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627334C>T | CA515391570 | ARSA | c.297G>A (p.Arg99=) c.39G>A (p.Arg13=) n.688G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627335C>A | CA412181503 | ARSA | c.296G>T (p.Arg99Leu) c.38G>T (p.Arg13Leu) n.687G>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627335C= | CA2410959558 | ARSA | c.296G= (p.Arg99=) c.38G= (p.Arg13=) n.687G= | |
| 22 | g.50627335C>G | CA10325063 | ARSA | c.296G>C (p.Arg99Pro) c.38G>C (p.Arg13Pro) n.687G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627335C>T | CA10325064 | ARSA | c.296G>A (p.Arg99Gln) c.38G>A (p.Arg13Gln) n.687G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627336G>A | CA412181512 | ARSA | c.295C>T (p.Arg99Trp) c.37C>T (p.Arg13Trp) n.686C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627336G>C | CA412181517 | ARSA | c.295C>G (p.Arg99Gly) c.37C>G (p.Arg13Gly) n.686C>G | gnomAD v4 |
| 22 | g.50627336G= | CA2410959559 | ARSA | c.295C= (p.Arg99=) c.37C= (p.Arg13=) n.686C= | |
| 22 | g.50627336G>T | CA515391571 | ARSA | c.295C>A (p.Arg99=) c.37C>A (p.Arg13=) n.686C>A | gnomAD v4 |
| 22 | g.50627338dup | CA658824689 | ARSA | c.295dup (p.Arg99ProfsTer?) c.37dup (p.Arg13ProfsTer?) n.686dup | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627337G>A | CA515391572 | ARSA | c.294C>T (p.Ser98=) c.36C>T (p.Ser12=) n.685C>T | dbSNP gnomAD v4 |
| 22 | g.50627337G>C | CA515391573 | ARSA | c.294C>G (p.Ser98=) c.36C>G (p.Ser12=) n.685C>G | ClinVar dbSNP |
| 22 | g.50627337G= | CA2410959560 | ARSA | c.294C= (p.Ser98=) c.36C= (p.Ser12=) n.685C= | |
| 22 | g.50627337G>T | CA515391574 | ARSA | c.294C>A (p.Ser98=) c.36C>A (p.Ser12=) n.685C>A | |
| 22 | g.50627337_50627338insA | CA916083828 | ARSA | c.293_294insT (p.Arg99ProfsTer?) c.35_36insT (p.Arg13ProfsTer?) n.684_685insT | |
| 22 | g.50627338G>A | CA115960 | ARSA | c.293C>T (p.Ser98Phe) c.35C>T (p.Ser12Phe) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627338G>C | CA412181539 | ARSA | c.293C>G (p.Ser98Cys) c.35C>G (p.Ser12Cys) n.684C>G | |
| 22 | g.50627338G= | CA2410959561 | ARSA | c.293C= (p.Ser98=) c.35C= (p.Ser12=) n.684C= | |
| 22 | g.50627338G>T | CA412181529 | ARSA | c.293C>A (p.Ser98Tyr) c.35C>A (p.Ser12Tyr) n.684C>A | gnomAD v4 |
| 22 | g.50627338_50627339delinsAG | CA115971 | ARSA | c.292_293delinsCT (p.Ser98Leu) c.34_35delinsCT (p.Ser12Leu) n.683_684delinsCT | ClinVar dbSNP |
| 22 | g.50627338_50627339delinsGA | CA2410959562 | ARSA | c.292_293delinsTC (p.Ser98=) c.34_35delinsTC (p.Ser12=) n.683_684delinsTC | |
| 22 | g.50627339A>C | CA412181547 | ARSA | c.292T>G (p.Ser98Ala) c.34T>G (p.Ser12Ala) n.683T>G | |
| 22 | g.50627339A>G | CA412181546 | ARSA | c.292T>C (p.Ser98Pro) c.34T>C (p.Ser12Pro) n.683T>C | |
| 22 | g.50627339A>T | CA412181548 | ARSA | c.292T>A (p.Ser98Thr) c.34T>A (p.Ser12Thr) n.683T>A | |
| 22 | g.50627339delinsGG | CA2695231031 | ARSA | c.292delinsCC (p.Ser98ProfsTer?) c.34delinsCC (p.Ser12ProfsTer?) n.683delinsCC | |
| 22 | g.50627339dup | CA2657593962 | ARSA | c.292dup (p.Ser98PhefsTer?) c.34dup (p.Ser12PhefsTer?) n.683dup | gnomAD v4 |
| 22 | g.50627340G>A | CA515391575 | ARSA | c.291C>T (p.Ser97=) c.33C>T (p.Ser11=) n.682C>T | ClinVar dbSNP |
| 22 | g.50627340G>C | CA412181550 | ARSA | c.291C>G (p.Ser97Arg) c.33C>G (p.Ser11Arg) n.682C>G | |
| 22 | g.50627340G= | CA2410959563 | ARSA | c.291C= (p.Ser97=) c.33C= (p.Ser11=) n.682C= | |
| 22 | g.50627340G>T | CA412181554 | ARSA | c.291C>A (p.Ser97Arg) c.33C>A (p.Ser11Arg) n.682C>A | dbSNP gnomAD v4 |
| 22 | g.50627341C>A | CA412181558 | ARSA | c.290G>T (p.Ser97Ile) c.32G>T (p.Ser11Ile) n.681G>T | |
| 22 | g.50627341C= | CA2410959564 | ARSA | c.290G= (p.Ser97=) c.32G= (p.Ser11=) n.681G= | |
| 22 | g.50627341C>G | CA412181560 | ARSA | c.290G>C (p.Ser97Thr) c.32G>C (p.Ser11Thr) n.681G>C | |
| 22 | g.50627341C>T | CA219012 | ARSA | c.290G>A (p.Ser97Asn) c.32G>A (p.Ser11Asn) n.681G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627342T>A | CA412181570 | ARSA | c.289A>T (p.Ser97Cys) c.31A>T (p.Ser11Cys) n.680A>T | |
| 22 | g.50627342T>C | CA412181567 | ARSA | c.289A>G (p.Ser97Gly) c.31A>G (p.Ser11Gly) n.680A>G | |
| 22 | g.50627342T>G | CA412181565 | ARSA | c.289A>C (p.Ser97Arg) c.31A>C (p.Ser11Arg) n.680A>C | |
| 22 | g.50627343G>A | CA515391576 | ARSA | c.288C>T (p.Pro96=) c.30C>T (p.Pro10=) n.679C>T | |
| 22 | g.50627343G>C | CA515391577 | ARSA | c.288C>G (p.Pro96=) c.30C>G (p.Pro10=) n.679C>G | |
| 22 | g.50627343G>T | CA515391578 | ARSA | c.288C>A (p.Pro96=) c.30C>A (p.Pro10=) n.679C>A | gnomAD v4 |
| 22 | g.50627344G>A | CA412181575 | ARSA | c.287C>T (p.Pro96Leu) c.29C>T (p.Pro10Leu) n.678C>T | |
| 22 | g.50627344G>C | CA412181578 | ARSA | c.287C>G (p.Pro96Arg) c.29C>G (p.Pro10Arg) n.678C>G | |
| 22 | g.50627344G>T | CA412181583 | ARSA | c.287C>A (p.Pro96His) c.29C>A (p.Pro10His) n.678C>A | |
| 22 | g.50627345G>A | CA412181590 | ARSA | c.286C>T (p.Pro96Ser) c.28C>T (p.Pro10Ser) n.677C>T | gnomAD v4 |
| 22 | g.50627345G>C | CA219010 | ARSA | c.286C>G (p.Pro96Ala) c.28C>G (p.Pro10Ala) n.677C>G | ClinVar dbSNP |
| 22 | g.50627345G= | CA2410959565 | ARSA | c.286C= (p.Pro96=) c.28C= (p.Pro10=) n.677C= | |
| 22 | g.50627345G>T | CA412181595 | ARSA | c.286C>A (p.Pro96Thr) c.28C>A (p.Pro10Thr) n.677C>A | gnomAD v4 |
| 22 | g.50627346C>A | CA515391579 | ARSA | c.285G>T (p.Val95=) c.27G>T (p.Val9=) n.676G>T | gnomAD v4 |
| 22 | g.50627346C>G | CA515391580 | ARSA | c.285G>C (p.Val95=) c.27G>C (p.Val9=) n.676G>C | gnomAD v4 |
| 22 | g.50627346C>T | CA515391581 | ARSA | c.285G>A (p.Val95=) c.27G>A (p.Val9=) n.676G>A | |
| 22 | g.50627347A>C | CA412181597 | ARSA | c.284T>G (p.Val95Gly) c.26T>G (p.Val9Gly) n.675T>G | |
| 22 | g.50627347A>G | CA412181600 | ARSA | c.284T>C (p.Val95Ala) c.26T>C (p.Val9Ala) n.675T>C | gnomAD v4 |
| 22 | g.50627347A>T | CA412181599 | ARSA | c.284T>A (p.Val95Glu) c.26T>A (p.Val9Glu) n.675T>A | |
| 22 | g.50627348C>A | CA412181601 | ARSA | c.283G>T (p.Val95Leu) c.25G>T (p.Val9Leu) n.674G>T | |
| 22 | g.50627348C= | CA2410959566 | ARSA | c.283G= (p.Val95=) c.25G= (p.Val9=) n.674G= | |
| 22 | g.50627348C>G | CA412181602 | ARSA | c.283G>C (p.Val95Leu) c.25G>C (p.Val9Leu) n.674G>C | |
| 22 | g.50627348C>T | CA10325065 | ARSA | c.283G>A (p.Val95Met) c.25G>A (p.Val9Met) n.674G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627349C>A | CA515391582 | ARSA | c.282G>T (p.Leu94=) c.24G>T (p.Leu8=) n.673G>T | gnomAD v4 |
| 22 | g.50627349C>G | CA515391583 | ARSA | c.282G>C (p.Leu94=) c.24G>C (p.Leu8=) n.673G>C | |
| 22 | g.50627349C>T | CA515391584 | ARSA | c.282G>A (p.Leu94=) c.24G>A (p.Leu8=) n.673G>A | |
| 22 | g.50627350A>C | CA412181609 | ARSA | c.281T>G (p.Leu94Arg) c.23T>G (p.Leu8Arg) n.672T>G | |
| 22 | g.50627350A>G | CA412181613 | ARSA | c.281T>C (p.Leu94Pro) c.23T>C (p.Leu8Pro) n.672T>C | gnomAD v4 |
| 22 | g.50627350A>T | CA412181616 | ARSA | c.281T>A (p.Leu94Gln) c.23T>A (p.Leu8Gln) n.672T>A | |
| 22 | g.50627351G>A | CA10325067 | ARSA | c.280C>T (p.Leu94=) c.22C>T (p.Leu8=) n.671C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627351G>C | CA10325066 | ARSA | c.280C>G (p.Leu94Val) c.22C>G (p.Leu8Val) n.671C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627351G= | CA2410959567 | ARSA | c.280C= (p.Leu94=) c.22C= (p.Leu8=) n.671C= | |
| 22 | g.50627351G>T | CA412181624 | ARSA | c.280C>A (p.Leu94Met) c.22C>A (p.Leu8Met) n.671C>A | |
| 22 | g.50627352G>A | CA10325068 | ARSA | c.279C>T (p.Val93=) c.21C>T (p.Val7=) n.670C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627352G>C | CA515391586 | ARSA | c.279C>G (p.Val93=) c.21C>G (p.Val7=) n.670C>G | |
| 22 | g.50627352G= | CA2410959568 | ARSA | c.279C= (p.Val93=) c.21C= (p.Val7=) n.670C= | |
| 22 | g.50627352G>T | CA515391585 | ARSA | c.279C>A (p.Val93=) c.21C>A (p.Val7=) n.670C>A | gnomAD v4 |
| 22 | g.50627353A>C | CA412181642 | ARSA | c.278T>G (p.Val93Gly) c.20T>G (p.Val7Gly) n.669T>G | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627353A>G | CA412181635 | ARSA | c.278T>C (p.Val93Ala) c.20T>C (p.Val7Ala) n.669T>C | |
| 22 | g.50627353A>T | CA412181629 | ARSA | c.278T>A (p.Val93Asp) c.20T>A (p.Val7Asp) n.669T>A | |
| 22 | g.50627354C>A | CA412181650 | ARSA | c.277G>T (p.Val93Phe) c.19G>T (p.Val7Phe) n.668G>T | gnomAD v4 |
| 22 | g.50627354C= | CA2410959569 | ARSA | c.277G= (p.Val93=) c.19G= (p.Val7=) n.668G= | |
| 22 | g.50627354C>G | CA412181654 | ARSA | c.277G>C (p.Val93Leu) c.19G>C (p.Val7Leu) n.668G>C | |
| 22 | g.50627354C>T | CA10325069 | ARSA | c.277G>A (p.Val93Ile) c.19G>A (p.Val7Ile) n.668G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627355G>A | CA515391587 | ARSA | c.276C>T (p.Gly92=) c.18C>T (p.Gly6=) n.667C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627355G>C | CA515391588 | ARSA | c.276C>G (p.Gly92=) c.18C>G (p.Gly6=) n.667C>G | |
| 22 | g.50627355G= | CA2410959570 | ARSA | c.276C= (p.Gly92=) c.18C= (p.Gly6=) n.667C= | |
| 22 | g.50627355G>T | CA325531603 | ARSA | c.276C>A (p.Gly92=) c.18C>A (p.Gly6=) n.667C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627356C>A | CA412181669 | ARSA | c.275G>T (p.Gly92Val) c.17G>T (p.Gly6Val) n.666G>T | |
| 22 | g.50627356C= | CA2410959571 | ARSA | c.275G= (p.Gly92=) c.17G= (p.Gly6=) n.666G= | |
| 22 | g.50627356C>G | CA412181671 | ARSA | c.275G>C (p.Gly92Ala) c.17G>C (p.Gly6Ala) n.666G>C | |
| 22 | g.50627356C>T | CA10325070 | ARSA | c.275G>A (p.Gly92Asp) c.17G>A (p.Gly6Asp) n.666G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627357C>A | CA412181675 | ARSA | c.274G>T (p.Gly92Cys) c.16G>T (p.Gly6Cys) n.665G>T | |
| 22 | g.50627357C>G | CA412181677 | ARSA | c.274G>C (p.Gly92Arg) c.16G>C (p.Gly6Arg) n.665G>C | |
| 22 | g.50627357C>T | CA412181680 | ARSA | c.274G>A (p.Gly92Ser) c.16G>A (p.Gly6Ser) n.665G>A | gnomAD v4 |
| 22 | g.50627358A= | CA2410959572 | ARSA | c.273T= (p.Pro91=) c.15T= (p.Pro5=) n.664T= | |
| 22 | g.50627358A>C | CA10325071 | ARSA | c.273T>G (p.Pro91=) c.15T>G (p.Pro5=) n.664T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627358A>G | CA515391589 | ARSA | c.273T>C (p.Pro91=) c.15T>C (p.Pro5=) n.664T>C | |
| 22 | g.50627358A>T | CA515391590 | ARSA | c.273T>A (p.Pro91=) c.15T>A (p.Pro5=) n.664T>A | |
| 22 | g.50627358_50627359delinsAG | CA2410959573 | ARSA | c.272_273delinsCT (p.Pro91=) c.14_15delinsCT (p.Pro5=) n.663_664delinsCT | |
| 22 | g.50627359G>A | CA412181681 | ARSA | c.272C>T (p.Pro91Leu) c.14C>T (p.Pro5Leu) n.663C>T | dbSNP gnomAD v2 |
| 22 | g.50627359G>C | CA412181683 | ARSA | c.272C>G (p.Pro91Arg) c.14C>G (p.Pro5Arg) n.663C>G | gnomAD v4 |
| 22 | g.50627359G= | CA2410959575 | ARSA | c.272C= (p.Pro91=) c.14C= (p.Pro5=) n.663C= | |
| 22 | g.50627359G>T | CA412181687 | ARSA | c.272C>A (p.Pro91His) c.14C>A (p.Pro5His) n.663C>A | gnomAD v4 |
| 22 | g.50627361del | CA2410959574 | ARSA | c.272del (p.Pro91LeufsTer17) c.14del (p.Pro5LeufsTer17) n.663del | ClinVar dbSNP |
| 22 | g.50627360G>A | CA412181691 | ARSA | c.271C>T (p.Pro91Ser) c.13C>T (p.Pro5Ser) n.662C>T | |
| 22 | g.50627360G>C | CA412181689 | ARSA | c.271C>G (p.Pro91Ala) c.13C>G (p.Pro5Ala) n.662C>G | |
| 22 | g.50627360G>T | CA412181690 | ARSA | c.271C>A (p.Pro91Thr) c.13C>A (p.Pro5Thr) n.662C>A | |
| 22 | g.50627361G>A | CA10325072 | ARSA | c.270C>T (p.Tyr90=) c.12C>T (p.Tyr4=) n.661C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627361G>C | CA412181694 | ARSA | c.270C>G (p.Tyr90Ter) c.12C>G (p.Tyr4Ter) n.661C>G | |
| 22 | g.50627361G= | CA2410959576 | ARSA | c.270C= (p.Tyr90=) c.12C= (p.Tyr4=) n.661C= | |
| 22 | g.50627361G>T | CA412181697 | ARSA | c.270C>A (p.Tyr90Ter) c.12C>A (p.Tyr4Ter) n.661C>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627362T>A | CA412181700 | ARSA | c.269A>T (p.Tyr90Phe) c.11A>T (p.Tyr4Phe) n.660A>T | |
| 22 | g.50627362T>C | CA10325073 | ARSA | c.269A>G (p.Tyr90Cys) c.11A>G (p.Tyr4Cys) n.660A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627362T>G | CA412181706 | ARSA | c.269A>C (p.Tyr90Ser) c.11A>C (p.Tyr4Ser) n.660A>C | |
| 22 | g.50627362T= | CA2410959577 | ARSA | c.269A= (p.Tyr90=) c.11A= (p.Tyr4=) n.660A= | |
| 22 | g.50627363A>C | CA412181708 | ARSA | c.268T>G (p.Tyr90Asp) c.10T>G (p.Tyr4Asp) n.659T>G | |
| 22 | g.50627363A>G | CA412181710 | ARSA | c.268T>C (p.Tyr90His) c.10T>C (p.Tyr4His) n.659T>C | |
| 22 | g.50627363A>T | CA412181713 | ARSA | c.268T>A (p.Tyr90Asn) c.10T>A (p.Tyr4Asn) n.659T>A | |
| 22 | g.50627364C>A | CA412181716 | ARSA | c.267G>T (p.Met89Ile) c.9G>T (p.Met3Ile) n.658G>T | |
| 22 | g.50627364C= | CA2410959578 | ARSA | c.267G= (p.Met89=) c.9G= (p.Met3=) n.658G= | |
| 22 | g.50627364C>G | CA412181719 | ARSA | c.267G>C (p.Met89Ile) c.9G>C (p.Met3Ile) n.658G>C | |
| 22 | g.50627364C>T | CA325531604 | ARSA | c.267G>A (p.Met89Ile) c.9G>A (p.Met3Ile) n.658G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627365A= | CA2410959579 | ARSA | c.266T= (p.Met89=) c.8T= (p.Met3=) n.657T= | |
| 22 | g.50627365A>C | CA412181729 | ARSA | c.266T>G (p.Met89Arg) c.8T>G (p.Met3Arg) n.657T>G | dbSNP gnomAD v4 |
| 22 | g.50627365A>G | CA412181727 | ARSA | c.266T>C (p.Met89Thr) c.8T>C (p.Met3Thr) n.657T>C | gnomAD v4 |
| 22 | g.50627365A>T | CA412181725 | ARSA | c.266T>A (p.Met89Lys) c.8T>A (p.Met3Lys) n.657T>A | |
| 22 | g.50627366T>A | CA412181730 | ARSA | c.265A>T (p.Met89Leu) c.7A>T (p.Met3Leu) n.656A>T | |
| 22 | g.50627366T>C | CA412181733 | ARSA | c.265A>G (p.Met89Val) c.7A>G (p.Met3Val) n.656A>G | dbSNP gnomAD v4 |
| 22 | g.50627366T>G | CA412181731 | ARSA | c.265A>C (p.Met89Leu) c.7A>C (p.Met3Leu) n.656A>C | |
| 22 | g.50627366T= | CA2410959580 | ARSA | c.265A= (p.Met89=) c.7A= (p.Met3=) n.656A= | |
| 22 | g.50627367del | CA2695231032 | ARSA | c.264del (p.Met89CysfsTer19) c.6del (p.Met3CysfsTer19) n.655del | |
| 22 | g.50627367G>A | CA515391591 | ARSA | c.264C>T (p.Gly88=) c.6C>T (p.Gly2=) n.655C>T | ClinVar |
| 22 | g.50627367G>C | CA515391592 | ARSA | c.264C>G (p.Gly88=) c.6C>G (p.Gly2=) n.655C>G | ClinVar dbSNP |
| 22 | g.50627367G= | CA2410959581 | ARSA | c.264C= (p.Gly88=) c.6C= (p.Gly2=) n.655C= | |
| 22 | g.50627367G>T | CA515391593 | ARSA | c.264C>A (p.Gly88=) c.6C>A (p.Gly2=) n.655C>A | |
| 22 | g.50627367_50627368delinsGC | CA2410959582 | ARSA | c.263_264delinsGC (p.Gly88=) c.5_6delinsGC (p.Gly2=) n.654_655delinsGC | |
| 22 | g.50627368C>A | CA412181734 | ARSA | c.263G>T (p.Gly88Val) c.5G>T (p.Gly2Val) n.654G>T | |
| 22 | g.50627368C= | CA2410959584 | ARSA | c.263G= (p.Gly88=) c.5G= (p.Gly2=) n.654G= | |
| 22 | g.50627368C>G | CA412181742 | ARSA | c.263G>C (p.Gly88Ala) c.5G>C (p.Gly2Ala) n.654G>C | |
| 22 | g.50627368C>T | CA115969 | ARSA | c.263G>A (p.Gly88Asp) c.5G>A (p.Gly2Asp) n.654G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627370del | CA2410959583 | ARSA | c.263del (p.Gly88AlafsTer20) c.5del (p.Gly2AlafsTer20) n.654del | ClinVar dbSNP |
| 22 | g.50627369C>A | CA412181747 | ARSA | c.262G>T (p.Gly88Cys) c.4G>T (p.Gly2Cys) n.653G>T | gnomAD v4 |
| 22 | g.50627369C>G | CA412181749 | ARSA | c.262G>C (p.Gly88Arg) c.4G>C (p.Gly2Arg) n.653G>C | gnomAD v4 |
| 22 | g.50627369C>T | CA412181755 | ARSA | c.262G>A (p.Gly88Ser) c.4G>A (p.Gly2Ser) n.653G>A | |
| 22 | g.50627370C>A | CA412181758 | ARSA | c.261G>T (p.Met87Ile) c.3G>T (p.Met1Ile) n.652G>T | gnomAD v4 |
| 22 | g.50627370C= | CA2410959585 | ARSA | c.261G= (p.Met87=) c.3G= (p.Met1=) n.652G= | |
| 22 | g.50627370C>G | CA412181761 | ARSA | c.261G>C (p.Met87Ile) c.3G>C (p.Met1Ile) n.652G>C | |
| 22 | g.50627370C>T | CA412181763 | ARSA | c.261G>A (p.Met87Ile) c.3G>A (p.Met1Ile) n.652G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627371A>C | CA412181766 | ARSA | c.260T>G (p.Met87Arg) c.2T>G (p.Met1Arg) n.651T>G | |
| 22 | g.50627371A>G | CA412181769 | ARSA | c.260T>C (p.Met87Thr) c.2T>C (p.Met1Thr) n.651T>C | |
| 22 | g.50627371A>T | CA412181772 | ARSA | c.260T>A (p.Met87Lys) c.2T>A (p.Met1Lys) n.651T>A | |
| 22 | g.50627372T>A | CA412181780 | ARSA | c.259A>T (p.Met87Leu) c.1A>T (p.Met1Leu) n.650A>T | |
| 22 | g.50627372T>C | CA412181775 | ARSA | c.259A>G (p.Met87Val) c.1A>G (p.Met1Val) n.650A>G | dbSNP |
| 22 | g.50627372T>G | CA412181777 | ARSA | c.259A>C (p.Met87Leu) c.1A>C (p.Met1Leu) n.650A>C | |
| 22 | g.50627372T= | CA2410959586 | ARSA | c.259A= (p.Met87=) c.1A= (p.Met1=) n.650A= | |
| 22 | g.50627373C>A | CA515391596 | ARSA | c.258G>T (p.Arg86=) c.-1G>T (n.-1G>T) n.649G>T | ClinVar |
| 22 | g.50627373C>G | CA515391595 | ARSA | c.258G>C (p.Arg86=) c.-1G>C (n.-1G>C) n.649G>C | |
| 22 | g.50627373C>T | CA515391594 | ARSA | c.258G>A (p.Arg86=) c.-1G>A (n.-1G>A) n.649G>A | |
| 22 | g.50627374C>A | CA412181784 | ARSA | c.257G>T (p.Arg86Leu) c.-2G>T (n.-2G>T) n.648G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.50627374C= | CA2410959587 | ARSA | c.257G= (p.Arg86=) c.-2G= (n.-2G=) n.648G= | |
| 22 | g.50627374C>G | CA412181786 | ARSA | c.257G>C (p.Arg86Pro) c.-2G>C (n.-2G>C) n.648G>C | |
| 22 | g.50627374C>T | CA115965 | ARSA | c.257G>A (p.Arg86Gln) c.-2G>A (n.-2G>A) n.648G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627375G>A | CA219008 | ARSA | c.256C>T (p.Arg86Trp) c.-3C>T (n.-3C>T) n.647C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627375G>C | CA412181794 | ARSA | c.256C>G (p.Arg86Gly) c.-3C>G (n.-3C>G) n.647C>G | ClinVar gnomAD v4 |
| 22 | g.50627375G= | CA2410959588 | ARSA | c.256C= (p.Arg86=) c.-3C= (n.-3C=) n.647C= | |
| 22 | g.50627375G>T | CA515391597 | ARSA | c.256C>A (p.Arg86=) c.-3C>A (n.-3C>A) n.647C>A | gnomAD v4 |
| 22 | g.50627376A= | CA2410959589 | ARSA | c.255T= (p.Val85=) c.-4T= (n.-4T=) n.646T= | |
| 22 | g.50627376A>C | CA515391598 | ARSA | c.255T>G (p.Val85=) c.-4T>G (n.-4T>G) n.646T>G | |
| 22 | g.50627376A>G | CA515391599 | ARSA | c.255T>C (p.Val85=) c.-4T>C (n.-4T>C) n.646T>C | |
| 22 | g.50627376A>T | CA515391600 | ARSA | c.255T>A (p.Val85=) c.-4T>A (n.-4T>A) n.646T>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627377A>C | CA412181798 | ARSA | c.254T>G (p.Val85Gly) c.-5T>G (n.-5T>G) n.645T>G | |
| 22 | g.50627377A>G | CA412181807 | ARSA | c.254T>C (p.Val85Ala) c.-5T>C (n.-5T>C) n.645T>C | |
| 22 | g.50627377A>T | CA412181813 | ARSA | c.254T>A (p.Val85Asp) c.-5T>A (n.-5T>A) n.645T>A | |
| 22 | g.50627378C>A | CA412181815 | ARSA | c.253G>T (p.Val85Phe) c.-6G>T (n.-6G>T) n.644G>T | gnomAD v4 |
| 22 | g.50627378C>G | CA412181816 | ARSA | c.253G>C (p.Val85Leu) c.-6G>C (n.-6G>C) n.644G>C | gnomAD v4 |
| 22 | g.50627378C>T | CA412181819 | ARSA | c.253G>A (p.Val85Ile) c.-6G>A (n.-6G>A) n.644G>A | |
| 22 | g.50627379C>A | CA515391601 | ARSA | c.252G>T (p.Pro84=) c.-7G>T (n.-7G>T) n.643G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627379C= | CA2410959590 | ARSA | c.252G= (p.Pro84=) c.-7G= (n.-7G=) n.643G= | |
| 22 | g.50627379C>G | CA515391603 | ARSA | c.252G>C (p.Pro84=) c.-7G>C (n.-7G>C) n.643G>C | ClinVar gnomAD v4 |
| 22 | g.50627379C>T | CA515391602 | ARSA | c.252G>A (p.Pro84=) c.-7G>A (n.-7G>A) n.643G>A | ClinVar gnomAD v4 |
| 22 | g.50627380G>A | CA10325074 | ARSA | c.251C>T (p.Pro84Leu) c.-8C>T (n.-8C>T) n.642C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627380G>C | CA412181831 | ARSA | c.251C>G (p.Pro84Arg) c.-8C>G (n.-8C>G) n.642C>G | ClinVar |
| 22 | g.50627380G= | CA2410959591 | ARSA | c.251C= (p.Pro84=) c.-8C= (n.-8C=) n.642C= | |
| 22 | g.50627380G>T | CA412181825 | ARSA | c.251C>A (p.Pro84Gln) c.-8C>A (n.-8C>A) n.642C>A | gnomAD v4 |
| 22 | g.50627381G>A | CA412181848 | ARSA | c.250C>T (p.Pro84Ser) c.-9C>T (n.-9C>T) n.641C>T | |
| 22 | g.50627381G>C | CA412181850 | ARSA | c.250C>G (p.Pro84Ala) c.-9C>G (n.-9C>G) n.641C>G | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627381G= | CA2410959592 | ARSA | c.250C= (p.Pro84=) c.-9C= (n.-9C=) n.641C= | |
| 22 | g.50627381G>T | CA412181853 | ARSA | c.250C>A (p.Pro84Thr) c.-9C>A (n.-9C>A) n.641C>A | |
| 22 | g.50627382G>A | CA515391604 | ARSA | c.249C>T (p.Leu83=) c.-10C>T (n.-10C>T) n.640C>T | |
| 22 | g.50627382G>C | CA10325075 | ARSA | c.249C>G (p.Leu83=) c.-10C>G (n.-10C>G) n.640C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627382G= | CA2410959593 | ARSA | c.249C= (p.Leu83=) c.-10C= (n.-10C=) n.640C= | |
| 22 | g.50627382G>T | CA515391605 | ARSA | c.249C>A (p.Leu83=) c.-10C>A (n.-10C>A) n.640C>A | gnomAD v4 |
| 22 | g.50627383A= | CA2410959594 | ARSA | c.248T= (p.Leu83=) c.-11T= (n.-11T=) n.639T= | |
| 22 | g.50627383A>C | CA412181859 | ARSA | c.248T>G (p.Leu83Arg) c.-11T>G (n.-11T>G) n.639T>G | |
| 22 | g.50627383A>G | CA412181861 | ARSA | c.248T>C (p.Leu83Pro) c.-11T>C (n.-11T>C) n.639T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627383A>T | CA412181863 | ARSA | c.248T>A (p.Leu83His) c.-11T>A (n.-11T>A) n.639T>A | |
| 22 | g.50627384G>A | CA412181867 | ARSA | c.247C>T (p.Leu83Phe) c.-12C>T (n.-12C>T) n.638C>T | ClinVar dbSNP |
| 22 | g.50627384G>C | CA412181869 | ARSA | c.247C>G (p.Leu83Val) c.-12C>G (n.-12C>G) n.638C>G | gnomAD v4 |
| 22 | g.50627384G= | CA2410959595 | ARSA | c.247C= (p.Leu83=) c.-12C= (n.-12C=) n.638C= | |
| 22 | g.50627384G>T | CA412181871 | ARSA | c.247C>A (p.Leu83Ile) c.-12C>A (n.-12C>A) n.638C>A | |
| 22 | g.50627385C>A | CA515391606 | ARSA | c.246G>T (p.Arg82=) c.-13G>T (n.-13G>T) n.637G>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627385C= | CA2410959596 | ARSA | c.246G= (p.Arg82=) c.-13G= (n.-13G=) n.637G= | |
| 22 | g.50627385C>G | CA515391607 | ARSA | c.246G>C (p.Arg82=) c.-13G>C (n.-13G>C) n.637G>C | |
| 22 | g.50627385C>T | CA515391608 | ARSA | c.246G>A (p.Arg82=) c.-13G>A (n.-13G>A) n.637G>A | gnomAD v4 COSMIC |
| 22 | g.50627386C>A | CA412181874 | ARSA | c.245G>T (p.Arg82Leu) c.-14G>T (n.-14G>T) n.636G>T | ClinVar gnomAD v4 |
| 22 | g.50627386C= | CA2410959597 | ARSA | c.245G= (p.Arg82=) c.-14G= (n.-14G=) n.636G= | |
| 22 | g.50627386C>G | CA412181877 | ARSA | c.245G>C (p.Arg82Pro) c.-14G>C (n.-14G>C) n.636G>C | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627386C>T | CA10325076 | ARSA | c.245G>A (p.Arg82Gln) c.-14G>A (n.-14G>A) n.636G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627386_50627387delinsCG | CA2410959598 | ARSA | c.244_245delinsCG (p.Arg82=) c.-15_-14delinsCG (n.-15_-14delinsCG) n.635_636delinsCG | |
| 22 | g.50627387G>A | CA412181884 | ARSA | c.244C>T (p.Arg82Trp) c.-15C>T (n.-15C>T) n.635C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627387G>C | CA412181882 | ARSA | c.244C>G (p.Arg82Gly) c.-15C>G (n.-15C>G) n.635C>G | |
| 22 | g.50627387G= | CA2410959599 | ARSA | c.244C= (p.Arg82=) c.-15C= (n.-15C=) n.635C= | |
| 22 | g.50627387G>T | CA515391609 | ARSA | c.244C>A (p.Arg82=) c.-15C>A (n.-15C>A) n.635C>A | gnomAD v4 |
| 22 | g.50627388del | CA913190485 | ARSA | c.244del (p.Arg82GlyfsTer26) c.-15del (n.-15del) n.635del | ClinVar dbSNP |
| 22 | g.50627388G>A | CA10325077 | ARSA | c.243C>T (p.Gly81=) c.-16C>T (n.-16C>T) n.634C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50627388G>C | CA515391611 | ARSA | c.243C>G (p.Gly81=) c.-16C>G (n.-16C>G) n.634C>G | |
| 22 | g.50627388G= | CA2410959600 | ARSA | c.243C= (p.Gly81=) c.-16C= (n.-16C=) n.634C= | |
| 22 | g.50627388G>T | CA515391610 | ARSA | c.243C>A (p.Gly81=) c.-16C>A (n.-16C>A) n.634C>A | |
| 22 | g.50627389C>A | CA412181887 | ARSA | c.242G>T (p.Gly81Val) c.-17G>T (n.-17G>T) n.633G>T | gnomAD v4 |
| 22 | g.50627389C= | CA2410959601 | ARSA | c.242G= (p.Gly81=) c.-17G= (n.-17G=) n.633G= | |
| 22 | g.50627389C>G | CA412181888 | ARSA | c.242G>C (p.Gly81Ala) c.-17G>C (n.-17G>C) n.633G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627389C>T | CA412181892 | ARSA | c.242G>A (p.Gly81Asp) c.-17G>A (n.-17G>A) n.633G>A | gnomAD v4 |
| 22 | g.50627390C>A | CA412181894 | ARSA | c.241G>T (p.Gly81Cys) c.-18G>T (n.-18G>T) n.632G>T | COSMIC |
| 22 | g.50627390C= | CA2410959602 | ARSA | c.241G= (p.Gly81=) c.-18G= (n.-18G=) n.632G= | |
| 22 | g.50627390C>G | CA412181897 | ARSA | c.241G>C (p.Gly81Arg) c.-18G>C (n.-18G>C) n.632G>C | gnomAD v2 gnomAD v4 |
| 22 | g.50627390C>T | CA10325078 | ARSA | c.241G>A (p.Gly81Ser) c.-18G>A (n.-18G>A) n.632G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627391G>A | CA10325079 | ARSA | c.240C>T (p.Thr80=) c.-19C>T (n.-19C>T) n.631C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627391G>C | CA515391613 | ARSA | c.240C>G (p.Thr80=) c.-19C>G (n.-19C>G) n.631C>G | |
| 22 | g.50627391G= | CA2410959603 | ARSA | c.240C= (p.Thr80=) c.-19C= (n.-19C=) n.631C= | |
| 22 | g.50627391G>T | CA515391612 | ARSA | c.240C>A (p.Thr80=) c.-19C>A (n.-19C>A) n.631C>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627392dup | CA278480 | ARSA | c.240dup (p.Gly81ArgfsTer?) c.-19dup (n.-19dup) n.631dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627392G>A | CA412181904 | ARSA | c.239C>T (p.Thr80Ile) c.-20C>T (n.-20C>T) n.630C>T | gnomAD v4 |
| 22 | g.50627392G>C | CA412181906 | ARSA | c.239C>G (p.Thr80Ser) c.-20C>G (n.-20C>G) n.630C>G | |
| 22 | g.50627392G>T | CA412181908 | ARSA | c.239C>A (p.Thr80Asn) c.-20C>A (n.-20C>A) n.630C>A | gnomAD v4 |
| 22 | g.50627393T>A | CA412181911 | ARSA | c.238A>T (p.Thr80Ser) c.-21A>T (n.-21A>T) n.629A>T | |
| 22 | g.50627393T>C | CA412181914 | ARSA | c.238A>G (p.Thr80Ala) c.-21A>G (n.-21A>G) n.629A>G | |
| 22 | g.50627393T>G | CA412181915 | ARSA | c.238A>C (p.Thr80Pro) c.-21A>C (n.-21A>C) n.629A>C | gnomAD v4 |
| 22 | g.50627394C>A | CA515391614 | ARSA | c.237G>T (p.Leu79=) c.-22G>T (n.-22G>T) n.628G>T | gnomAD v4 |
| 22 | g.50627394C= | CA2410959604 | ARSA | c.237G= (p.Leu79=) c.-22G= (n.-22G=) n.628G= | |
| 22 | g.50627394C>G | CA515391615 | ARSA | c.237G>C (p.Leu79=) c.-22G>C (n.-22G>C) n.628G>C | |
| 22 | g.50627394C>T | CA10325080 | ARSA | c.237G>A (p.Leu79=) c.-22G>A (n.-22G>A) n.628G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627395A>C | CA412181925 | ARSA | c.236T>G (p.Leu79Arg) c.-23T>G (n.-23T>G) n.627T>G | |
| 22 | g.50627395A>G | CA412181921 | ARSA | c.236T>C (p.Leu79Pro) c.-23T>C (n.-23T>C) n.627T>C | gnomAD v4 |
| 22 | g.50627395A>T | CA412181923 | ARSA | c.236T>A (p.Leu79Gln) c.-23T>A (n.-23T>A) n.627T>A | |
| 22 | g.50627396G>A | CA515391616 | ARSA | c.235C>T (p.Leu79=) c.-24C>T (n.-24C>T) n.626C>T | |
| 22 | g.50627396G>C | CA412181929 | ARSA | c.235C>G (p.Leu79Val) c.-24C>G (n.-24C>G) n.626C>G | |
| 22 | g.50627396G>T | CA412181931 | ARSA | c.235C>A (p.Leu79Met) c.-24C>A (n.-24C>A) n.626C>A | gnomAD v4 |
| 22 | g.50627397G>A | CA515391617 | ARSA | c.234C>T (p.Leu78=) c.-25C>T (n.-25C>T) n.625C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627397G>C | CA515391618 | ARSA | c.234C>G (p.Leu78=) c.-25C>G (n.-25C>G) n.625C>G | |
| 22 | g.50627397G= | CA2410959605 | ARSA | c.234C= (p.Leu78=) c.-25C= (n.-25C=) n.625C= | |
| 22 | g.50627397G>T | CA515391619 | ARSA | c.234C>A (p.Leu78=) c.-25C>A (n.-25C>A) n.625C>A | gnomAD v4 |
| 22 | g.50627398_50627399del | CA2657593968 | ARSA | c.233_234del (p.Leu78ProfsTer?) c.-26_-25del (n.-26_-25del) n.624_625del | gnomAD v4 |
| 22 | g.50627398A= | CA2410959606 | ARSA | c.233T= (p.Leu78=) c.-26T= (n.-26T=) n.624T= | |
| 22 | g.50627398A>C | CA412181934 | ARSA | c.233T>G (p.Leu78Arg) c.-26T>G (n.-26T>G) n.624T>G | |
| 22 | g.50627398A>G | CA219006 | ARSA | c.233T>C (p.Leu78Pro) c.-26T>C (n.-26T>C) n.624T>C | ClinVar dbSNP |
| 22 | g.50627398A>T | CA412181940 | ARSA | c.233T>A (p.Leu78His) c.-26T>A (n.-26T>A) n.624T>A | |
| 22 | g.50627399G>A | CA412181944 | ARSA | c.232C>T (p.Leu78Phe) c.-27C>T (n.-27C>T) n.623C>T | gnomAD v4 |
| 22 | g.50627399G>C | CA412181951 | ARSA | c.232C>G (p.Leu78Val) c.-27C>G (n.-27C>G) n.623C>G | |
| 22 | g.50627399G>T | CA412181948 | ARSA | c.232C>A (p.Leu78Ile) c.-27C>A (n.-27C>A) n.623C>A | gnomAD v4 |
| 22 | g.50627399_50627400delinsAA | CA915952317 | ARSA | c.231_232delinsTT (p.Leu78Phe) c.-28_-27delinsTT (n.-28_-27delinsTT) n.622_623delinsTT | ClinVar dbSNP |
| 22 | g.50627399_50627400delinsGG | CA2410959607 | ARSA | c.231_232delinsCC (p.Ala77=) c.-28_-27delinsCC (n.-28_-27delinsCC) n.622_623delinsCC | |
| 22 | g.50627400G>A | CA515391620 | ARSA | c.231C>T (p.Ala77=) c.-28C>T (n.-28C>T) n.622C>T | gnomAD v4 |
| 22 | g.50627400G>C | CA10325081 | ARSA | c.231C>G (p.Ala77=) c.-28C>G (n.-28C>G) n.622C>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 22 | g.50627400G= | CA2410959608 | ARSA | c.231C= (p.Ala77=) c.-28C= (n.-28C=) n.622C= | |
| 22 | g.50627400G>T | CA515391621 | ARSA | c.231C>A (p.Ala77=) c.-28C>A (n.-28C>A) n.622C>A | |
| 22 | g.50627401G>A | CA325531616 | ARSA | c.230C>T (p.Ala77Val) c.-29C>T (n.-29C>T) n.621C>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627401G>C | CA412181957 | ARSA | c.230C>G (p.Ala77Gly) c.-29C>G (n.-29C>G) n.621C>G | |
| 22 | g.50627401G= | CA2410959609 | ARSA | c.230C= (p.Ala77=) c.-29C= (n.-29C=) n.621C= | |
| 22 | g.50627401G>T | CA412181960 | ARSA | c.230C>A (p.Ala77Asp) c.-29C>A (n.-29C>A) n.621C>A | gnomAD v4 |
| 22 | g.50627402C>A | CA10325082 | ARSA | c.229G>T (p.Ala77Ser) c.-30G>T (n.-30G>T) n.620G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627402C= | CA2410959610 | ARSA | c.229G= (p.Ala77=) c.-30G= (n.-30G=) n.620G= | |
| 22 | g.50627402C>G | CA412181963 | ARSA | c.229G>C (p.Ala77Pro) c.-30G>C (n.-30G>C) n.620G>C | ClinVar dbSNP |
| 22 | g.50627402C>T | CA412181967 | ARSA | c.229G>A (p.Ala77Thr) c.-30G>A (n.-30G>A) n.620G>A | dbSNP gnomAD v4 |
| 22 | g.50627403G>A | CA10325083 | ARSA | c.228C>T (p.Ala76=) c.-31C>T (n.-31C>T) n.619C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627403G>C | CA515391622 | ARSA | c.228C>G (p.Ala76=) c.-31C>G (n.-31C>G) n.619C>G | |
| 22 | g.50627403G= | CA2410959611 | ARSA | c.228C= (p.Ala76=) c.-31C= (n.-31C=) n.619C= | |
| 22 | g.50627403G>T | CA515391623 | ARSA | c.228C>A (p.Ala76=) c.-31C>A (n.-31C>A) n.619C>A | gnomAD v4 |
| 22 | g.50627403_50627404insTA | CA16042045 | ARSA | c.227_228insTA (p.Ala77ThrfsTer4) c.-32_-31insTA (n.-32_-31insTA) n.618_619insTA | ClinVar dbSNP |
| 22 | g.50627404G>A | CA412181975 | ARSA | c.227C>T (p.Ala76Val) c.-32C>T (n.-32C>T) n.618C>T | |
| 22 | g.50627404G>C | CA412181979 | ARSA | c.227C>G (p.Ala76Gly) c.-32C>G (n.-32C>G) n.618C>G | |
| 22 | g.50627404G>T | CA412181981 | ARSA | c.227C>A (p.Ala76Asp) c.-32C>A (n.-32C>A) n.618C>A | |
| 22 | g.50627405C>A | CA412181983 | ARSA | c.226G>T (p.Ala76Ser) c.-33G>T (n.-33G>T) n.617G>T | gnomAD v4 |
| 22 | g.50627405C= | CA2410959612 | ARSA | c.226G= (p.Ala76=) c.-33G= (n.-33G=) n.617G= | |
| 22 | g.50627405C>G | CA412181985 | ARSA | c.226G>C (p.Ala76Pro) c.-33G>C (n.-33G>C) n.617G>C | |
| 22 | g.50627405C>T | CA412181987 | ARSA | c.226G>A (p.Ala76Thr) c.-33G>A (n.-33G>A) n.617G>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627406C>A | CA412181991 | ARSA | c.225G>T (p.Arg75Ser) c.-34G>T (n.-34G>T) n.616G>T | |
| 22 | g.50627406C>G | CA412181994 | ARSA | c.225G>C (p.Arg75Ser) c.-34G>C (n.-34G>C) n.616G>C | |
| 22 | g.50627406C>T | CA515391624 | ARSA | c.225G>A (p.Arg75=) c.-34G>A (n.-34G>A) n.616G>A | gnomAD v4 |
| 22 | g.50627407C>A | CA412181998 | ARSA | c.225-1G>T (n.225-1G>T) c.-34-1G>T (n.-34-1G>T) n.616-1G>T | dbSNP |
| 22 | g.50627407C>G | CA412182001 | ARSA | c.225-1G>C (n.225-1G>C) c.-34-1G>C (n.-34-1G>C) n.616-1G>C | ClinVar |
| 22 | g.50627407C>T | CA412182004 | ARSA | c.225-1G>A (n.225-1G>A) c.-34-1G>A (n.-34-1G>A) n.616-1G>A | gnomAD v4 |
| 22 | g.50627408T>A | CA412182014 | ARSA | c.225-2A>T (n.225-2A>T) c.-34-2A>T (n.-34-2A>T) n.616-2A>T | |
| 22 | g.50627408T>C | CA412182008 | ARSA | c.225-2A>G (n.225-2A>G) c.-34-2A>G (n.-34-2A>G) n.616-2A>G | ClinVar dbSNP |
| 22 | g.50627408T>G | CA412182011 | ARSA | c.225-2A>C (n.225-2A>C) c.-34-2A>C (n.-34-2A>C) n.616-2A>C | |
| 22 | g.50627408T= | CA2410959613 | ARSA | c.225-2A= (n.225-2A=) c.-34-2A= (n.-34-2A=) n.616-2A= | |
| 22 | g.50627409G>A | CA10325084 | ARSA | c.225-3C>T (n.225-3C>T) c.-34-3C>T (n.-34-3C>T) n.616-3C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627409G>C | CA640358607 | ARSA | c.225-3C>G (n.225-3C>G) c.-34-3C>G (n.-34-3C>G) n.616-3C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627409G= | CA2410959614 | ARSA | c.225-3C= (n.225-3C=) c.-34-3C= (n.-34-3C=) n.616-3C= | |
| 22 | g.50627409G>T | CA2657593969 | ARSA | c.225-3C>A (n.225-3C>A) c.-34-3C>A (n.-34-3C>A) n.616-3C>A | gnomAD v4 |
| 22 | g.50627410C>A | CA640358608 | ARSA | c.225-4G>T (n.225-4G>T) c.-34-4G>T (n.-34-4G>T) n.616-4G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627410C= | CA2410959615 | ARSA | c.225-4G= (n.225-4G=) c.-34-4G= (n.-34-4G=) n.616-4G= | |
| 22 | g.50627410C>T | CA10325085 | ARSA | c.225-4G>A (n.225-4G>A) c.-34-4G>A (n.-34-4G>A) n.616-4G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627411G>A | CA10325086 | ARSA | c.225-5C>T (n.225-5C>T) c.-34-5C>T (n.-34-5C>T) n.616-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627411G>C | CA233481 | ARSA | c.225-5C>G (n.225-5C>G) c.-34-5C>G (n.-34-5C>G) n.616-5C>G | ClinVar dbSNP |
| 22 | g.50627411G= | CA2410959616 | ARSA | c.225-5C= (n.225-5C=) c.-34-5C= (n.-34-5C=) n.616-5C= | |
| 22 | g.50627411G>T | CA2657593970 | ARSA | c.225-5C>A (n.225-5C>A) c.-34-5C>A (n.-34-5C>A) n.616-5C>A | gnomAD v4 |
| 22 | g.50627412G>A | CA640358609 | ARSA | c.225-6C>T (n.225-6C>T) c.-34-6C>T (n.-34-6C>T) n.616-6C>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627412G= | CA2410959617 | ARSA | c.225-6C= (n.225-6C=) c.-34-6C= (n.-34-6C=) n.616-6C= | |
| 22 | g.50627413G>A | CA2577767874 | ARSA | c.225-7C>T (n.225-7C>T) c.-34-7C>T (n.-34-7C>T) n.616-7C>T | |
| 22 | g.50627415C= | CA2410959618 | ARSA | c.225-9G= (n.225-9G=) c.-34-9G= (n.-34-9G=) n.616-9G= | |
| 22 | g.50627415C>G | CA325531624 | ARSA | c.225-9G>C (n.225-9G>C) c.-34-9G>C (n.-34-9G>C) n.616-9G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627415C>T | CA2499226242 | ARSA | c.225-9G>A (n.225-9G>A) c.-34-9G>A (n.-34-9G>A) n.616-9G>A | ClinVar dbSNP |
| 22 | g.50627416A= | CA2410959619 | ARSA | c.225-10T= (n.225-10T=) c.-34-10T= (n.-34-10T=) n.616-10T= | |
| 22 | g.50627416A>C | CA754075898 | ARSA | c.225-10T>G (n.225-10T>G) c.-34-10T>G (n.-34-10T>G) n.616-10T>G | dbSNP |
| 22 | g.50627417A= | CA2410959620 | ARSA | c.225-11T= (n.225-11T=) c.-34-11T= (n.-34-11T=) n.616-11T= | |
| 22 | g.50627417A>C | CA325531625 | ARSA | c.225-11T>G (n.225-11T>G) c.-34-11T>G (n.-34-11T>G) n.616-11T>G | dbSNP |
| 22 | g.50627418G>A | CA2580100009 | ARSA | c.225-12C>T (n.225-12C>T) c.-34-12C>T (n.-34-12C>T) n.616-12C>T | ClinVar gnomAD v4 |
| 22 | g.50627418G>T | CA2657593971 | ARSA | c.225-12C>A (n.225-12C>A) c.-34-12C>A (n.-34-12C>A) n.616-12C>A | gnomAD v4 |
| 22 | g.50627419T>C | CA640358610 | ARSA | c.225-13A>G (n.225-13A>G) c.-34-13A>G (n.-34-13A>G) n.616-13A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627419T= | CA2410959621 | ARSA | c.225-13A= (n.225-13A=) c.-34-13A= (n.-34-13A=) n.616-13A= | |
| 22 | g.50627420C>A | CA2657593972 | ARSA | c.225-14G>T (n.225-14G>T) c.-34-14G>T (n.-34-14G>T) n.616-14G>T | gnomAD v4 |
| 22 | g.50627420C= | CA2410959622 | ARSA | c.225-14G= (n.225-14G=) c.-34-14G= (n.-34-14G=) n.616-14G= | |
| 22 | g.50627420C>T | CA640358611 | ARSA | c.225-14G>A (n.225-14G>A) c.-34-14G>A (n.-34-14G>A) n.616-14G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627422_50627423del | CA2577767878 | ARSA | c.225-15_225-14del (n.225-15_225-14del) c.-34-15_-34-14del (n.-34-15_-34-14del) n.616-15_616-14del | ClinVar |