Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.45476548C>A | CA433433045 | LARS2 | c.939C>A (p.Ala313=) c.*807C>A (n.*807C>A) c.810C>A (p.Ala270=) | |
3 | g.45476548C>G | CA433433046 | LARS2 | c.939C>G (p.Ala313=) c.*807C>G (n.*807C>G) c.810C>G (p.Ala270=) | |
3 | g.45476548C>T | CA433433047 | LARS2 | c.939C>T (p.Ala313=) c.*807C>T (n.*807C>T) c.810C>T (p.Ala270=) | |
3 | g.45476549A>C | CA352423767 | LARS2 | c.940A>C (p.Ile314Leu) c.*808A>C (n.*808A>C) c.811A>C (p.Ile271Leu) | gnomAD v4 |
3 | g.45476549A>G | CA352423768 | LARS2 | c.940A>G (p.Ile314Val) c.*808A>G (n.*808A>G) c.811A>G (p.Ile271Val) | |
3 | g.45476549A>T | CA352423769 | LARS2 | c.940A>T (p.Ile314Phe) c.*808A>T (n.*808A>T) c.811A>T (p.Ile271Phe) | gnomAD v4 |
3 | g.45476550T>A | CA352423774 | LARS2 | c.941T>A (p.Ile314Asn) c.*809T>A (n.*809T>A) c.812T>A (p.Ile271Asn) | |
3 | g.45476550T>C | CA352423772 | LARS2 | c.941T>C (p.Ile314Thr) c.*809T>C (n.*809T>C) c.812T>C (p.Ile271Thr) | |
3 | g.45476550T>G | CA352423773 | LARS2 | c.941T>G (p.Ile314Ser) c.*809T>G (n.*809T>G) c.812T>G (p.Ile271Ser) | |
3 | g.45476551C>A | CA433433048 | LARS2 | c.942C>A (p.Ile314=) c.*810C>A (n.*810C>A) c.813C>A (p.Ile271=) | |
3 | g.45476551C>G | CA352423776 | LARS2 | c.942C>G (p.Ile314Met) c.*810C>G (n.*810C>G) c.813C>G (p.Ile271Met) | gnomAD v4 |
3 | g.45476551C>T | CA433433049 | LARS2 | c.942C>T (p.Ile314=) c.*810C>T (n.*810C>T) c.813C>T (p.Ile271=) | COSMIC |
3 | g.45476552T>A | CA352423778 | LARS2 | c.943T>A (p.Ser315Thr) c.*811T>A (n.*811T>A) c.814T>A (p.Ser272Thr) | |
3 | g.45476552T>C | CA2349456 | LARS2 | c.943T>C (p.Ser315Pro) c.*811T>C (n.*811T>C) c.814T>C (p.Ser272Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476552T>G | CA352423779 | LARS2 | c.943T>G (p.Ser315Ala) c.*811T>G (n.*811T>G) c.814T>G (p.Ser272Ala) | |
3 | g.45476552T= | CA1361691390 | LARS2 | c.943T= (p.Ser315=) c.*811T= (n.*811T=) c.814T= (p.Ser272=) | |
3 | g.45476553C>A | CA352423781 | LARS2 | c.944C>A (p.Ser315Ter) c.*812C>A (n.*812C>A) c.815C>A (p.Ser272Ter) | |
3 | g.45476553C= | CA1361691391 | LARS2 | c.944C= (p.Ser315=) c.*812C= (n.*812C=) c.815C= (p.Ser272=) | |
3 | g.45476553C>G | CA352423783 | LARS2 | c.944C>G (p.Ser315Trp) c.*812C>G (n.*812C>G) c.815C>G (p.Ser272Trp) | |
3 | g.45476553C>T | CA2349457 | LARS2 | c.944C>T (p.Ser315Leu) c.*812C>T (n.*812C>T) c.815C>T (p.Ser272Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.45476554G>A | CA2349459 | LARS2 | c.945G>A (p.Ser315=) c.*813G>A (n.*813G>A) c.816G>A (p.Ser272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476554G>C | CA2349458 | LARS2 | c.945G>C (p.Ser315=) c.*813G>C (n.*813G>C) c.816G>C (p.Ser272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476554G= | CA1361691392 | LARS2 | c.945G= (p.Ser315=) c.*813G= (n.*813G=) c.816G= (p.Ser272=) | |
3 | g.45476554G>T | CA433433050 | LARS2 | c.945G>T (p.Ser315=) c.*813G>T (n.*813G>T) c.816G>T (p.Ser272=) | dbSNP gnomAD v2 |
3 | g.45476555C>A | CA352423787 | LARS2 | c.946C>A (p.Pro316Thr) c.*814C>A (n.*814C>A) c.817C>A (p.Pro273Thr) | |
3 | g.45476555C>G | CA352423788 | LARS2 | c.946C>G (p.Pro316Ala) c.*814C>G (n.*814C>G) c.817C>G (p.Pro273Ala) | |
3 | g.45476555C>T | CA352423789 | LARS2 | c.946C>T (p.Pro316Ser) c.*814C>T (n.*814C>T) c.817C>T (p.Pro273Ser) | |
3 | g.45476556C>A | CA352423791 | LARS2 | c.947C>A (p.Pro316His) c.*815C>A (n.*815C>A) c.818C>A (p.Pro273His) | |
3 | g.45476556C= | CA1361691393 | LARS2 | c.947C= (p.Pro316=) c.*815C= (n.*815C=) c.818C= (p.Pro273=) | |
3 | g.45476556C>G | CA352423793 | LARS2 | c.947C>G (p.Pro316Arg) c.*815C>G (n.*815C>G) c.818C>G (p.Pro273Arg) | |
3 | g.45476556C>T | CA352423790 | LARS2 | c.947C>T (p.Pro316Leu) c.*815C>T (n.*815C>T) c.818C>T (p.Pro273Leu) | dbSNP |
3 | g.45476557C>A | CA433433051 | LARS2 | c.948C>A (p.Pro316=) c.*816C>A (n.*816C>A) c.819C>A (p.Pro273=) | |
3 | g.45476557C= | CA1361691394 | LARS2 | c.948C= (p.Pro316=) c.*816C= (n.*816C=) c.819C= (p.Pro273=) | |
3 | g.45476557C>G | CA433433052 | LARS2 | c.948C>G (p.Pro316=) c.*816C>G (n.*816C>G) c.819C>G (p.Pro273=) | |
3 | g.45476557C>T | CA433433053 | LARS2 | c.948C>T (p.Pro316=) c.*816C>T (n.*816C>T) c.819C>T (p.Pro273=) | dbSNP gnomAD v4 |
3 | g.45476558A>C | CA352423797 | LARS2 | c.949A>C (p.Ser317Arg) c.*817A>C (n.*817A>C) c.820A>C (p.Ser274Arg) | |
3 | g.45476558A>G | CA352423795 | LARS2 | c.949A>G (p.Ser317Gly) c.*817A>G (n.*817A>G) c.820A>G (p.Ser274Gly) | |
3 | g.45476558A>T | CA352423798 | LARS2 | c.949A>T (p.Ser317Cys) c.*817A>T (n.*817A>T) c.820A>T (p.Ser274Cys) | |
3 | g.45476559G>A | CA352423800 | LARS2 | c.950G>A (p.Ser317Asn) c.*818G>A (n.*818G>A) c.821G>A (p.Ser274Asn) | dbSNP |
3 | g.45476559G>C | CA352423801 | LARS2 | c.950G>C (p.Ser317Thr) c.*818G>C (n.*818G>C) c.821G>C (p.Ser274Thr) | |
3 | g.45476559G= | CA1361691395 | LARS2 | c.950G= (p.Ser317=) c.*818G= (n.*818G=) c.821G= (p.Ser274=) | |
3 | g.45476559G>T | CA352423803 | LARS2 | c.950G>T (p.Ser317Ile) c.*818G>T (n.*818G>T) c.821G>T (p.Ser274Ile) | |
3 | g.45476560C>A | CA352423805 | LARS2 | c.951C>A (p.Ser317Arg) c.*819C>A (n.*819C>A) c.822C>A (p.Ser274Arg) | |
3 | g.45476560C>G | CA352423806 | LARS2 | c.951C>G (p.Ser317Arg) c.*819C>G (n.*819C>G) c.822C>G (p.Ser274Arg) | |
3 | g.45476560C>T | CA433433054 | LARS2 | c.951C>T (p.Ser317=) c.*819C>T (n.*819C>T) c.822C>T (p.Ser274=) | |
3 | g.45476561C>A | CA352423808 | LARS2 | c.952C>A (p.His318Asn) c.*820C>A (n.*820C>A) c.823C>A (p.His275Asn) | |
3 | g.45476561C>G | CA352423810 | LARS2 | c.952C>G (p.His318Asp) c.*820C>G (n.*820C>G) c.823C>G (p.His275Asp) | |
3 | g.45476561C>T | CA352423812 | LARS2 | c.952C>T (p.His318Tyr) c.*820C>T (n.*820C>T) c.823C>T (p.His275Tyr) | |
3 | g.45476562A= | CA1361691396 | LARS2 | c.953A= (p.His318=) c.*821A= (n.*821A=) c.824A= (p.His275=) | |
3 | g.45476562A>C | CA352423813 | LARS2 | c.953A>C (p.His318Pro) c.*821A>C (n.*821A>C) c.824A>C (p.His275Pro) | |
3 | g.45476562A>G | CA2349460 | LARS2 | c.953A>G (p.His318Arg) c.*821A>G (n.*821A>G) c.824A>G (p.His275Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476562A>T | CA352423816 | LARS2 | c.953A>T (p.His318Leu) c.*821A>T (n.*821A>T) c.824A>T (p.His275Leu) | |
3 | g.45476563C>A | CA352423817 | LARS2 | c.954C>A (p.His318Gln) c.*822C>A (n.*822C>A) c.825C>A (p.His275Gln) | |
3 | g.45476563C>G | CA352423818 | LARS2 | c.954C>G (p.His318Gln) c.*822C>G (n.*822C>G) c.825C>G (p.His275Gln) | |
3 | g.45476563C>T | CA433433055 | LARS2 | c.954C>T (p.His318=) c.*822C>T (n.*822C>T) c.825C>T (p.His275=) | |
3 | g.45476564A>C | CA433433056 | LARS2 | c.955A>C (p.Arg319=) c.*823A>C (n.*823A>C) c.826A>C (p.Arg276=) | |
3 | g.45476564A>G | CA352423819 | LARS2 | c.955A>G (p.Arg319Gly) c.*823A>G (n.*823A>G) c.826A>G (p.Arg276Gly) | |
3 | g.45476564A>T | CA352423821 | LARS2 | c.955A>T (p.Arg319Ter) c.*823A>T (n.*823A>T) c.826A>T (p.Arg276Ter) | |
3 | g.45476565G>A | CA352423822 | LARS2 | c.956G>A (p.Arg319Lys) c.*824G>A (n.*824G>A) c.827G>A (p.Arg276Lys) | |
3 | g.45476565G>C | CA352423824 | LARS2 | c.956G>C (p.Arg319Thr) c.*824G>C (n.*824G>C) c.827G>C (p.Arg276Thr) | |
3 | g.45476565G>T | CA352423825 | LARS2 | c.956G>T (p.Arg319Ile) c.*824G>T (n.*824G>T) c.827G>T (p.Arg276Ile) | |
3 | g.45476566A>C | CA352423826 | LARS2 | c.957A>C (p.Arg319Ser) c.*825A>C (n.*825A>C) c.828A>C (p.Arg276Ser) | gnomAD v4 |
3 | g.45476566A>G | CA433433057 | LARS2 | c.957A>G (p.Arg319=) c.*825A>G (n.*825A>G) c.828A>G (p.Arg276=) | |
3 | g.45476566A>T | CA352423828 | LARS2 | c.957A>T (p.Arg319Ser) c.*825A>T (n.*825A>T) c.828A>T (p.Arg276Ser) | |
3 | g.45476567C>A | CA352423830 | LARS2 | c.958C>A (p.Leu320Ile) c.*826C>A (n.*826C>A) c.829C>A (p.Leu277Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45476567C>G | CA352423832 | LARS2 | c.958C>G (p.Leu320Val) c.*826C>G (n.*826C>G) c.829C>G (p.Leu277Val) | |
3 | g.45476567C>T | CA352423833 | LARS2 | c.958C>T (p.Leu320Phe) c.*826C>T (n.*826C>T) c.829C>T (p.Leu277Phe) | |
3 | g.45476568T>A | CA352423835 | LARS2 | c.959T>A (p.Leu320His) c.*827T>A (n.*827T>A) c.830T>A (p.Leu277His) | |
3 | g.45476568T>C | CA352423837 | LARS2 | c.959T>C (p.Leu320Pro) c.*827T>C (n.*827T>C) c.830T>C (p.Leu277Pro) | |
3 | g.45476568T>G | CA352423839 | LARS2 | c.959T>G (p.Leu320Arg) c.*827T>G (n.*827T>G) c.830T>G (p.Leu277Arg) | |
3 | g.45476568T= | CA1361691397 | LARS2 | c.959T= (p.Leu320=) c.*827T= (n.*827T=) c.830T= (p.Leu277=) | |
3 | g.45476568_45476569insGGGCCATCTCGCCCAGC | CA1361691398 | LARS2 | c.959_960insGGGCCATCTCGCCCAGC (p.Leu321GlyfsTer13) c.*827_*828insGGGCCATCTCGCCCAGC (n.*827_*828insGGGCCATCTCGCCCAGC) c.830_831insGGGCCATCTCGCCCAGC (p.Leu278GlyfsTer13) | dbSNP gnomAD v4 |
3 | g.45476569C>A | CA433433058 | LARS2 | c.960C>A (p.Leu320=) c.*828C>A (n.*828C>A) c.831C>A (p.Leu277=) | |
3 | g.45476569C= | CA1361691399 | LARS2 | c.960C= (p.Leu320=) c.*828C= (n.*828C=) c.831C= (p.Leu277=) | |
3 | g.45476569C>G | CA433433059 | LARS2 | c.960C>G (p.Leu320=) c.*828C>G (n.*828C>G) c.831C>G (p.Leu277=) | |
3 | g.45476569C>T | CA2349461 | LARS2 | c.960C>T (p.Leu320=) c.*828C>T (n.*828C>T) c.831C>T (p.Leu277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476570C>A | CA352423842 | LARS2 | c.961C>A (p.Leu321Ile) c.*829C>A (n.*829C>A) c.832C>A (p.Leu278Ile) | |
3 | g.45476570C>G | CA352423841 | LARS2 | c.961C>G (p.Leu321Val) c.*829C>G (n.*829C>G) c.832C>G (p.Leu278Val) | |
3 | g.45476570C>T | CA433433060 | LARS2 | c.961C>T (p.Leu321=) c.*829C>T (n.*829C>T) c.832C>T (p.Leu278=) | |
3 | g.45476571T>A | CA352423844 | LARS2 | c.962T>A (p.Leu321Gln) c.*830T>A (n.*830T>A) c.833T>A (p.Leu278Gln) | |
3 | g.45476571T>C | CA352423846 | LARS2 | c.962T>C (p.Leu321Pro) c.*830T>C (n.*830T>C) c.833T>C (p.Leu278Pro) | gnomAD v4 |
3 | g.45476571T>G | CA352423847 | LARS2 | c.962T>G (p.Leu321Arg) c.*830T>G (n.*830T>G) c.833T>G (p.Leu278Arg) | |
3 | g.45476572A>C | CA433433061 | LARS2 | c.963A>C (p.Leu321=) c.*831A>C (n.*831A>C) c.834A>C (p.Leu278=) | gnomAD v4 |
3 | g.45476572A>G | CA433433062 | LARS2 | c.963A>G (p.Leu321=) c.*831A>G (n.*831A>G) c.834A>G (p.Leu278=) | gnomAD v4 |
3 | g.45476572A>T | CA433433063 | LARS2 | c.963A>T (p.Leu321=) c.*831A>T (n.*831A>T) c.834A>T (p.Leu278=) | |
3 | g.45476573C>A | CA352423849 | LARS2 | c.964C>A (p.His322Asn) c.*832C>A (n.*832C>A) c.835C>A (p.His279Asn) | |
3 | g.45476573C>G | CA352423850 | LARS2 | c.964C>G (p.His322Asp) c.*832C>G (n.*832C>G) c.835C>G (p.His279Asp) | |
3 | g.45476573C>T | CA352423852 | LARS2 | c.964C>T (p.His322Tyr) c.*832C>T (n.*832C>T) c.835C>T (p.His279Tyr) | gnomAD v4 |
3 | g.45476574A= | CA1361691400 | LARS2 | c.965A= (p.His322=) c.*833A= (n.*833A=) c.836A= (p.His279=) | |
3 | g.45476574A>C | CA352423856 | LARS2 | c.965A>C (p.His322Pro) c.*833A>C (n.*833A>C) c.836A>C (p.His279Pro) | |
3 | g.45476574A>G | CA2349462 | LARS2 | c.965A>G (p.His322Arg) c.*833A>G (n.*833A>G) c.836A>G (p.His279Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476574A>T | CA352423854 | LARS2 | c.965A>T (p.His322Leu) c.*833A>T (n.*833A>T) c.836A>T (p.His279Leu) | |
3 | g.45476575T>A | CA352423858 | LARS2 | c.966T>A (p.His322Gln) c.*834T>A (n.*834T>A) c.837T>A (p.His279Gln) | |
3 | g.45476575T>C | CA2349463 | LARS2 | c.966T>C (p.His322=) c.*834T>C (n.*834T>C) c.837T>C (p.His279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476575T>G | CA352423860 | LARS2 | c.966T>G (p.His322Gln) c.*834T>G (n.*834T>G) c.837T>G (p.His279Gln) | |
3 | g.45476575T= | CA1361691401 | LARS2 | c.966T= (p.His322=) c.*834T= (n.*834T=) c.837T= (p.His279=) | |
3 | g.45476576G>A | CA352423862 | LARS2 | c.967G>A (p.Gly323Arg) c.*835G>A (n.*835G>A) c.838G>A (p.Gly280Arg) | dbSNP gnomAD v4 |
3 | g.45476576G>C | CA352423863 | LARS2 | c.967G>C (p.Gly323Arg) c.*835G>C (n.*835G>C) c.838G>C (p.Gly280Arg) | |
3 | g.45476576G= | CA1361691402 | LARS2 | c.967G= (p.Gly323=) c.*835G= (n.*835G=) c.838G= (p.Gly280=) | |
3 | g.45476576G>T | CA352423865 | LARS2 | c.967G>T (p.Gly323Trp) c.*835G>T (n.*835G>T) c.838G>T (p.Gly280Trp) | |
3 | g.45476577G>A | CA352423867 | LARS2 | c.968G>A (p.Gly323Glu) c.*836G>A (n.*836G>A) c.839G>A (p.Gly280Glu) | |
3 | g.45476577G>C | CA352423870 | LARS2 | c.968G>C (p.Gly323Ala) c.*836G>C (n.*836G>C) c.839G>C (p.Gly280Ala) | |
3 | g.45476577G>T | CA352423868 | LARS2 | c.968G>T (p.Gly323Val) c.*836G>T (n.*836G>T) c.839G>T (p.Gly280Val) | |
3 | g.45476578G>A | CA433433064 | LARS2 | c.969G>A (p.Gly323=) c.*837G>A (n.*837G>A) c.840G>A (p.Gly280=) | gnomAD v4 |
3 | g.45476578G>C | CA433433065 | LARS2 | c.969G>C (p.Gly323=) c.*837G>C (n.*837G>C) c.840G>C (p.Gly280=) | gnomAD v4 |
3 | g.45476578G>T | CA433433066 | LARS2 | c.969G>T (p.Gly323=) c.*837G>T (n.*837G>T) c.840G>T (p.Gly280=) | |
3 | g.45476579C>A | CA352423872 | LARS2 | c.970C>A (p.His324Asn) c.*838C>A (n.*838C>A) c.841C>A (p.His281Asn) | |
3 | g.45476579C>G | CA352423874 | LARS2 | c.970C>G (p.His324Asp) c.*838C>G (n.*838C>G) c.841C>G (p.His281Asp) | |
3 | g.45476579C>T | CA352423875 | LARS2 | c.970C>T (p.His324Tyr) c.*838C>T (n.*838C>T) c.841C>T (p.His281Tyr) | |
3 | g.45476580A>C | CA352423877 | LARS2 | c.971A>C (p.His324Pro) c.*839A>C (n.*839A>C) c.842A>C (p.His281Pro) | |
3 | g.45476580A>G | CA352423879 | LARS2 | c.971A>G (p.His324Arg) c.*839A>G (n.*839A>G) c.842A>G (p.His281Arg) | |
3 | g.45476580A>T | CA352423880 | LARS2 | c.971A>T (p.His324Leu) c.*839A>T (n.*839A>T) c.842A>T (p.His281Leu) | |
3 | g.45476581C>A | CA2349464 | LARS2 | c.972C>A (p.His324Gln) c.*840C>A (n.*840C>A) c.843C>A (p.His281Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476581C= | CA1361691403 | LARS2 | c.972C= (p.His324=) c.*840C= (n.*840C=) c.843C= (p.His281=) | |
3 | g.45476581C>G | CA352423882 | LARS2 | c.972C>G (p.His324Gln) c.*840C>G (n.*840C>G) c.843C>G (p.His281Gln) | |
3 | g.45476581C>T | CA433433067 | LARS2 | c.972C>T (p.His324=) c.*840C>T (n.*840C>T) c.843C>T (p.His281=) | dbSNP gnomAD v4 |
3 | g.45476582del | CA2665386320 | LARS2 | c.973del (p.Ser325AlafsTer3) c.*841del (n.*841del) c.844del (p.Ser282AlafsTer3) | gnomAD v4 |
3 | g.45476582A>C | CA352423884 | LARS2 | c.973A>C (p.Ser325Arg) c.*841A>C (n.*841A>C) c.844A>C (p.Ser282Arg) | |
3 | g.45476582A>G | CA352423886 | LARS2 | c.973A>G (p.Ser325Gly) c.*841A>G (n.*841A>G) c.844A>G (p.Ser282Gly) | ClinVar |
3 | g.45476582A>T | CA352423887 | LARS2 | c.973A>T (p.Ser325Cys) c.*841A>T (n.*841A>T) c.844A>T (p.Ser282Cys) | |
3 | g.45476583G>A | CA352423891 | LARS2 | c.974G>A (p.Ser325Asn) c.*842G>A (n.*842G>A) c.845G>A (p.Ser282Asn) | gnomAD v4 |
3 | g.45476583G>C | CA352423889 | LARS2 | c.974G>C (p.Ser325Thr) c.*842G>C (n.*842G>C) c.845G>C (p.Ser282Thr) | gnomAD v4 |
3 | g.45476583G= | CA1361691404 | LARS2 | c.974G= (p.Ser325=) c.*842G= (n.*842G=) c.845G= (p.Ser282=) | |
3 | g.45476583G>T | CA73581478 | LARS2 | c.974G>T (p.Ser325Ile) c.*842G>T (n.*842G>T) c.845G>T (p.Ser282Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45476584C>A | CA352423893 | LARS2 | c.975C>A (p.Ser325Arg) c.*843C>A (n.*843C>A) c.846C>A (p.Ser282Arg) | |
3 | g.45476584C= | CA1361691405 | LARS2 | c.975C= (p.Ser325=) c.*843C= (n.*843C=) c.846C= (p.Ser282=) | |
3 | g.45476584C>G | CA352423895 | LARS2 | c.975C>G (p.Ser325Arg) c.*843C>G (n.*843C>G) c.846C>G (p.Ser282Arg) | |
3 | g.45476584C>T | CA73581480 | LARS2 | c.975C>T (p.Ser325=) c.*843C>T (n.*843C>T) c.846C>T (p.Ser282=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45476585T>A | CA352423896 | LARS2 | c.976T>A (p.Ser326Thr) c.*844T>A (n.*844T>A) c.847T>A (p.Ser283Thr) | |
3 | g.45476585T>C | CA352423898 | LARS2 | c.976T>C (p.Ser326Pro) c.*844T>C (n.*844T>C) c.847T>C (p.Ser283Pro) | |
3 | g.45476585T>G | CA352423900 | LARS2 | c.976T>G (p.Ser326Ala) c.*844T>G (n.*844T>G) c.847T>G (p.Ser283Ala) | |
3 | g.45476586C>A | CA2349465 | LARS2 | c.977C>A (p.Ser326Tyr) c.*845C>A (n.*845C>A) c.848C>A (p.Ser283Tyr) | dbSNP ExAC gnomAD v2 |
3 | g.45476586C= | CA1361691406 | LARS2 | c.977C= (p.Ser326=) c.*845C= (n.*845C=) c.848C= (p.Ser283=) | |
3 | g.45476586C>G | CA352423901 | LARS2 | c.977C>G (p.Ser326Cys) c.*845C>G (n.*845C>G) c.848C>G (p.Ser283Cys) | |
3 | g.45476586C>T | CA2349466 | LARS2 | c.977C>T (p.Ser326Phe) c.*845C>T (n.*845C>T) c.848C>T (p.Ser283Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476587T>A | CA433433068 | LARS2 | c.978T>A (p.Ser326=) c.*846T>A (n.*846T>A) c.849T>A (p.Ser283=) | dbSNP |
3 | g.45476587T>C | CA433433069 | LARS2 | c.978T>C (p.Ser326=) c.*846T>C (n.*846T>C) c.849T>C (p.Ser283=) | |
3 | g.45476587T>G | CA433433070 | LARS2 | c.978T>G (p.Ser326=) c.*846T>G (n.*846T>G) c.849T>G (p.Ser283=) | |
3 | g.45476587T= | CA1361691407 | LARS2 | c.978T= (p.Ser326=) c.*846T= (n.*846T=) c.849T= (p.Ser283=) | |
3 | g.45476588C>A | CA352423904 | LARS2 | c.979C>A (p.Leu327Met) c.*847C>A (n.*847C>A) c.850C>A (p.Leu284Met) | |
3 | g.45476588C>G | CA352423906 | LARS2 | c.979C>G (p.Leu327Val) c.*847C>G (n.*847C>G) c.850C>G (p.Leu284Val) | |
3 | g.45476588C>T | CA433433071 | LARS2 | c.979C>T (p.Leu327=) c.*847C>T (n.*847C>T) c.850C>T (p.Leu284=) | gnomAD v4 |
3 | g.45476589del | CA2665386321 | LARS2 | c.980del (p.Leu327ArgfsTer5) c.*848del (n.*848del) c.851del (p.Leu284ArgfsTer5) | gnomAD v4 |
3 | g.45476589T>A | CA352423908 | LARS2 | c.980T>A (p.Leu327Gln) c.*848T>A (n.*848T>A) c.851T>A (p.Leu284Gln) | |
3 | g.45476589T>C | CA352423909 | LARS2 | c.980T>C (p.Leu327Pro) c.*848T>C (n.*848T>C) c.851T>C (p.Leu284Pro) | |
3 | g.45476589T>G | CA352423911 | LARS2 | c.980T>G (p.Leu327Arg) c.*848T>G (n.*848T>G) c.851T>G (p.Leu284Arg) | |
3 | g.45476590G>A | CA433433072 | LARS2 | c.981G>A (p.Leu327=) c.*849G>A (n.*849G>A) c.852G>A (p.Leu284=) | |
3 | g.45476590G>C | CA433433073 | LARS2 | c.981G>C (p.Leu327=) c.*849G>C (n.*849G>C) c.852G>C (p.Leu284=) | |
3 | g.45476590G>T | CA433433074 | LARS2 | c.981G>T (p.Leu327=) c.*849G>T (n.*849G>T) c.852G>T (p.Leu284=) | |
3 | g.45476591A= | CA1361691408 | LARS2 | c.982A= (p.Lys328=) c.*850A= (n.*850A=) c.853A= (p.Lys285=) | |
3 | g.45476591A>C | CA352423915 | LARS2 | c.982A>C (p.Lys328Gln) c.*850A>C (n.*850A>C) c.853A>C (p.Lys285Gln) | |
3 | g.45476591A>G | CA73581494 | LARS2 | c.982A>G (p.Lys328Glu) c.*850A>G (n.*850A>G) c.853A>G (p.Lys285Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476591A>T | CA352423914 | LARS2 | c.982A>T (p.Lys328Ter) c.*850A>T (n.*850A>T) c.853A>T (p.Lys285Ter) | |
3 | g.45476592A>C | CA352423917 | LARS2 | c.983A>C (p.Lys328Thr) c.*851A>C (n.*851A>C) c.854A>C (p.Lys285Thr) | |
3 | g.45476592A>G | CA352423919 | LARS2 | c.983A>G (p.Lys328Arg) c.*851A>G (n.*851A>G) c.854A>G (p.Lys285Arg) | |
3 | g.45476592A>T | CA352423921 | LARS2 | c.983A>T (p.Lys328Met) c.*851A>T (n.*851A>T) c.854A>T (p.Lys285Met) | |
3 | g.45476593G>A | CA73581499 | LARS2 | c.984G>A (p.Lys328=) c.*852G>A (n.*852G>A) c.855G>A (p.Lys285=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45476593G>C | CA352423922 | LARS2 | c.984G>C (p.Lys328Asn) c.*852G>C (n.*852G>C) c.855G>C (p.Lys285Asn) | |
3 | g.45476593G= | CA1361691409 | LARS2 | c.984G= (p.Lys328=) c.*852G= (n.*852G=) c.855G= (p.Lys285=) | |
3 | g.45476593G>T | CA352423923 | LARS2 | c.984G>T (p.Lys328Asn) c.*852G>T (n.*852G>T) c.855G>T (p.Lys285Asn) | |
3 | g.45476594G>A | CA352423925 | LARS2 | c.985G>A (p.Glu329Lys) c.*853G>A (n.*853G>A) c.856G>A (p.Glu286Lys) | |
3 | g.45476594G>C | CA352423927 | LARS2 | c.985G>C (p.Glu329Gln) c.*853G>C (n.*853G>C) c.856G>C (p.Glu286Gln) | |
3 | g.45476594G>T | CA352423929 | LARS2 | c.985G>T (p.Glu329Ter) c.*853G>T (n.*853G>T) c.856G>T (p.Glu286Ter) | |
3 | g.45476595A>C | CA352423931 | LARS2 | c.986A>C (p.Glu329Ala) c.*854A>C (n.*854A>C) c.857A>C (p.Glu286Ala) | gnomAD v4 |
3 | g.45476595A>G | CA352423932 | LARS2 | c.986A>G (p.Glu329Gly) c.*854A>G (n.*854A>G) c.857A>G (p.Glu286Gly) | ClinVar |
3 | g.45476595A>T | CA352423934 | LARS2 | c.986A>T (p.Glu329Val) c.*854A>T (n.*854A>T) c.857A>T (p.Glu286Val) | |
3 | g.45476596A>C | CA352423936 | LARS2 | c.987A>C (p.Glu329Asp) c.*855A>C (n.*855A>C) c.858A>C (p.Glu286Asp) | |
3 | g.45476596A>G | CA433433075 | LARS2 | c.987A>G (p.Glu329=) c.*855A>G (n.*855A>G) c.858A>G (p.Glu286=) | |
3 | g.45476596A>T | CA352423937 | LARS2 | c.987A>T (p.Glu329Asp) c.*855A>T (n.*855A>T) c.858A>T (p.Glu286Asp) | |
3 | g.45476597G>A | CA352423938 | LARS2 | c.988G>A (p.Ala330Thr) c.*856G>A (n.*856G>A) c.859G>A (p.Ala287Thr) | |
3 | g.45476597G>C | CA352423941 | LARS2 | c.988G>C (p.Ala330Pro) c.*856G>C (n.*856G>C) c.859G>C (p.Ala287Pro) | |
3 | g.45476597G>T | CA352423940 | LARS2 | c.988G>T (p.Ala330Ser) c.*856G>T (n.*856G>T) c.859G>T (p.Ala287Ser) | |
3 | g.45476598C>A | CA352423943 | LARS2 | c.989C>A (p.Ala330Asp) c.*857C>A (n.*857C>A) c.860C>A (p.Ala287Asp) | |
3 | g.45476598C= | CA1361691410 | LARS2 | c.989C= (p.Ala330=) c.*857C= (n.*857C=) c.860C= (p.Ala287=) | |
3 | g.45476598C>G | CA352423944 | LARS2 | c.989C>G (p.Ala330Gly) c.*857C>G (n.*857C>G) c.860C>G (p.Ala287Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476598C>T | CA352423946 | LARS2 | c.989C>T (p.Ala330Val) c.*857C>T (n.*857C>T) c.860C>T (p.Ala287Val) | |
3 | g.45476599C>A | CA433433076 | LARS2 | c.990C>A (p.Ala330=) c.*858C>A (n.*858C>A) c.861C>A (p.Ala287=) | |
3 | g.45476599C>G | CA433433077 | LARS2 | c.990C>G (p.Ala330=) c.*858C>G (n.*858C>G) c.861C>G (p.Ala287=) | |
3 | g.45476599C>T | CA433433078 | LARS2 | c.990C>T (p.Ala330=) c.*858C>T (n.*858C>T) c.861C>T (p.Ala287=) | |
3 | g.45476600T>A | CA352423948 | LARS2 | c.991T>A (p.Leu331Met) c.*859T>A (n.*859T>A) c.862T>A (p.Leu288Met) | |
3 | g.45476600T>C | CA433433079 | LARS2 | c.991T>C (p.Leu331=) c.*859T>C (n.*859T>C) c.862T>C (p.Leu288=) | |
3 | g.45476600T>G | CA352423950 | LARS2 | c.991T>G (p.Leu331Val) c.*859T>G (n.*859T>G) c.862T>G (p.Leu288Val) | |
3 | g.45476601T>A | CA352423951 | LARS2 | c.992T>A (p.Leu331Ter) c.*860T>A (n.*860T>A) c.863T>A (p.Leu288Ter) | |
3 | g.45476601T>C | CA352423952 | LARS2 | c.992T>C (p.Leu331Ser) c.*860T>C (n.*860T>C) c.863T>C (p.Leu288Ser) | |
3 | g.45476601T>G | CA352423953 | LARS2 | c.992T>G (p.Leu331Trp) c.*860T>G (n.*860T>G) c.863T>G (p.Leu288Trp) | |
3 | g.45476602G>A | CA2349467 | LARS2 | c.993G>A (p.Leu331=) c.*861G>A (n.*861G>A) c.864G>A (p.Leu288=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476602G>C | CA352423955 | LARS2 | c.993G>C (p.Leu331Phe) c.*861G>C (n.*861G>C) c.864G>C (p.Leu288Phe) | |
3 | g.45476602G= | CA1361691411 | LARS2 | c.993G= (p.Leu331=) c.*861G= (n.*861G=) c.864G= (p.Leu288=) | |
3 | g.45476602G>T | CA352423957 | LARS2 | c.993G>T (p.Leu331Phe) c.*861G>T (n.*861G>T) c.864G>T (p.Leu288Phe) | dbSNP |
3 | g.45476604_45476606del | CA2665386322 | LARS2 | c.995_997del (p.Arg332del) c.*863_*865del (n.*863_*865del) c.866_868del (p.Arg289del) | gnomAD v4 |
3 | g.45476603A= | CA1361691412 | LARS2 | c.994A= (p.Arg332=) c.*862A= (n.*862A=) c.865A= (p.Arg289=) | |
3 | g.45476603A>C | CA433433080 | LARS2 | c.994A>C (p.Arg332=) c.*862A>C (n.*862A>C) c.865A>C (p.Arg289=) | |
3 | g.45476603A>G | CA352423959 | LARS2 | c.994A>G (p.Arg332Gly) c.*862A>G (n.*862A>G) c.865A>G (p.Arg289Gly) | |
3 | g.45476603A>T | CA352423960 | LARS2 | c.994A>T (p.Arg332Trp) c.*862A>T (n.*862A>T) c.865A>T (p.Arg289Trp) | |
3 | g.45476604G>A | CA352423965 | LARS2 | c.995G>A (p.Arg332Lys) c.*863G>A (n.*863G>A) c.866G>A (p.Arg289Lys) | |
3 | g.45476604G>C | CA352423961 | LARS2 | c.995G>C (p.Arg332Thr) c.*863G>C (n.*863G>C) c.866G>C (p.Arg289Thr) | |
3 | g.45476604G>T | CA352423963 | LARS2 | c.995G>T (p.Arg332Met) c.*863G>T (n.*863G>T) c.866G>T (p.Arg289Met) | |
3 | g.45476606_45476609dup | CA1361691413 | LARS2 | c.997_1000dup (p.Ala334AspfsTer?) c.*865_*868dup (n.*865_*868dup) c.868_871dup (p.Ala291AspfsTer?) | dbSNP |
3 | g.45476605G>A | CA433433081 | LARS2 | c.996G>A (p.Arg332=) c.*864G>A (n.*864G>A) c.867G>A (p.Arg289=) | |
3 | g.45476605G>C | CA352423966 | LARS2 | c.996G>C (p.Arg332Ser) c.*864G>C (n.*864G>C) c.867G>C (p.Arg289Ser) | |
3 | g.45476605G>T | CA352423968 | LARS2 | c.996G>T (p.Arg332Ser) c.*864G>T (n.*864G>T) c.867G>T (p.Arg289Ser) | COSMIC |
3 | g.45476606A= | CA1361691414 | LARS2 | c.997A= (p.Met333=) c.*865A= (n.*865A=) c.868A= (p.Met290=) | |
3 | g.45476606A>C | CA352423969 | LARS2 | c.997A>C (p.Met333Leu) c.*865A>C (n.*865A>C) c.868A>C (p.Met290Leu) | |
3 | g.45476606A>G | CA2349468 | LARS2 | c.997A>G (p.Met333Val) c.*865A>G (n.*865A>G) c.868A>G (p.Met290Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476606A>T | CA352423970 | LARS2 | c.997A>T (p.Met333Leu) c.*865A>T (n.*865A>T) c.868A>T (p.Met290Leu) | |
3 | g.45476607T>A | CA352423971 | LARS2 | c.998T>A (p.Met333Lys) c.*866T>A (n.*866T>A) c.869T>A (p.Met290Lys) | |
3 | g.45476607T>C | CA352423973 | LARS2 | c.998T>C (p.Met333Thr) c.*866T>C (n.*866T>C) c.869T>C (p.Met290Thr) | |
3 | g.45476607T>G | CA352423975 | LARS2 | c.998T>G (p.Met333Arg) c.*866T>G (n.*866T>G) c.869T>G (p.Met290Arg) | |
3 | g.45476608G>A | CA352423977 | LARS2 | c.999G>A (p.Met333Ile) c.*867G>A (n.*867G>A) c.870G>A (p.Met290Ile) | |
3 | g.45476608G>C | CA352423978 | LARS2 | c.999G>C (p.Met333Ile) c.*867G>C (n.*867G>C) c.870G>C (p.Met290Ile) | gnomAD v4 |
3 | g.45476608G>T | CA352423979 | LARS2 | c.999G>T (p.Met333Ile) c.*867G>T (n.*867G>T) c.870G>T (p.Met290Ile) | |
3 | g.45476609G>A | CA352423985 | LARS2 | c.1000G>A (p.Ala334Thr) c.*868G>A (n.*868G>A) c.871G>A (p.Ala291Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476609G>C | CA352423983 | LARS2 | c.1000G>C (p.Ala334Pro) c.*868G>C (n.*868G>C) c.871G>C (p.Ala291Pro) | |
3 | g.45476609G= | CA1361691415 | LARS2 | c.1000G= (p.Ala334=) c.*868G= (n.*868G=) c.871G= (p.Ala291=) | |
3 | g.45476609G>T | CA352423981 | LARS2 | c.1000G>T (p.Ala334Ser) c.*868G>T (n.*868G>T) c.871G>T (p.Ala291Ser) | |
3 | g.45476610C>A | CA352423986 | LARS2 | c.1001C>A (p.Ala334Asp) c.*869C>A (n.*869C>A) c.872C>A (p.Ala291Asp) | |
3 | g.45476610C>G | CA352423989 | LARS2 | c.1001C>G (p.Ala334Gly) c.*869C>G (n.*869C>G) c.872C>G (p.Ala291Gly) | |
3 | g.45476610C>T | CA352423987 | LARS2 | c.1001C>T (p.Ala334Val) c.*869C>T (n.*869C>T) c.872C>T (p.Ala291Val) | |
3 | g.45476611C>A | CA433433082 | LARS2 | c.1002C>A (p.Ala334=) c.*870C>A (n.*870C>A) c.873C>A (p.Ala291=) | |
3 | g.45476611C= | CA1361691416 | LARS2 | c.1002C= (p.Ala334=) c.*870C= (n.*870C=) c.873C= (p.Ala291=) | |
3 | g.45476611C>G | CA433433083 | LARS2 | c.1002C>G (p.Ala334=) c.*870C>G (n.*870C>G) c.873C>G (p.Ala291=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45476611C>T | CA433433084 | LARS2 | c.1002C>T (p.Ala334=) c.*870C>T (n.*870C>T) c.873C>T (p.Ala291=) | gnomAD v4 COSMIC |
3 | g.45476612C>A | CA352423991 | LARS2 | c.1003C>A (p.Leu335Ile) c.*871C>A (n.*871C>A) c.874C>A (p.Leu292Ile) | COSMIC |
3 | g.45476612C>G | CA352423994 | LARS2 | c.1003C>G (p.Leu335Val) c.*871C>G (n.*871C>G) c.874C>G (p.Leu292Val) | |
3 | g.45476612C>T | CA352423993 | LARS2 | c.1003C>T (p.Leu335Phe) c.*871C>T (n.*871C>T) c.874C>T (p.Leu292Phe) | |
3 | g.45476613T>A | CA352423996 | LARS2 | c.1004T>A (p.Leu335His) c.*872T>A (n.*872T>A) c.875T>A (p.Leu292His) | |
3 | g.45476613T>C | CA352424000 | LARS2 | c.1004T>C (p.Leu335Pro) c.*872T>C (n.*872T>C) c.875T>C (p.Leu292Pro) | |
3 | g.45476613T>G | CA352423998 | LARS2 | c.1004T>G (p.Leu335Arg) c.*872T>G (n.*872T>G) c.875T>G (p.Leu292Arg) | |
3 | g.45476614del | CA2665386323 | LARS2 | c.1005del (p.Val336SerfsTer10) c.*873del (n.*873del) c.876del (p.Val293SerfsTer10) | gnomAD v4 |
3 | g.45476614T>A | CA433433085 | LARS2 | c.1005T>A (p.Leu335=) c.*873T>A (n.*873T>A) c.876T>A (p.Leu292=) | |
3 | g.45476614T>C | CA433433086 | LARS2 | c.1005T>C (p.Leu335=) c.*873T>C (n.*873T>C) c.876T>C (p.Leu292=) | |
3 | g.45476614T>G | CA433433087 | LARS2 | c.1005T>G (p.Leu335=) c.*873T>G (n.*873T>G) c.876T>G (p.Leu292=) | |
3 | g.45476615G>A | CA352424001 | LARS2 | c.1006G>A (p.Val336Ile) c.*874G>A (n.*874G>A) c.877G>A (p.Val293Ile) | |
3 | g.45476615G>C | CA352424002 | LARS2 | c.1006G>C (p.Val336Leu) c.*874G>C (n.*874G>C) c.877G>C (p.Val293Leu) | |
3 | g.45476615G>T | CA352424004 | LARS2 | c.1006G>T (p.Val336Phe) c.*874G>T (n.*874G>T) c.877G>T (p.Val293Phe) | |
3 | g.45476616T>A | CA352424006 | LARS2 | c.1007T>A (p.Val336Asp) c.*875T>A (n.*875T>A) c.878T>A (p.Val293Asp) | |
3 | g.45476616T>C | CA2349469 | LARS2 | c.1007T>C (p.Val336Ala) c.*875T>C (n.*875T>C) c.878T>C (p.Val293Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476616T>G | CA352424008 | LARS2 | c.1007T>G (p.Val336Gly) c.*875T>G (n.*875T>G) c.878T>G (p.Val293Gly) | |
3 | g.45476616T= | CA1361691417 | LARS2 | c.1007T= (p.Val336=) c.*875T= (n.*875T=) c.878T= (p.Val293=) | |
3 | g.45476617C>A | CA433433088 | LARS2 | c.1008C>A (p.Val336=) c.*876C>A (n.*876C>A) c.879C>A (p.Val293=) | |
3 | g.45476617C= | CA1361691418 | LARS2 | c.1008C= (p.Val336=) c.*876C= (n.*876C=) c.879C= (p.Val293=) | |
3 | g.45476617C>G | CA2349471 | LARS2 | c.1008C>G (p.Val336=) c.*876C>G (n.*876C>G) c.879C>G (p.Val293=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476617C>T | CA2349470 | LARS2 | c.1008C>T (p.Val336=) c.*876C>T (n.*876C>T) c.879C>T (p.Val293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476618C>A | CA352424012 | LARS2 | c.1009C>A (p.Pro337Thr) c.*877C>A (n.*877C>A) c.880C>A (p.Pro294Thr) | gnomAD v4 |
3 | g.45476618C= | CA1361691419 | LARS2 | c.1009C= (p.Pro337=) c.*877C= (n.*877C=) c.880C= (p.Pro294=) | |
3 | g.45476618C>G | CA352424013 | LARS2 | c.1009C>G (p.Pro337Ala) c.*877C>G (n.*877C>G) c.880C>G (p.Pro294Ala) | gnomAD v4 |
3 | g.45476618C>T | CA352424014 | LARS2 | c.1009C>T (p.Pro337Ser) c.*877C>T (n.*877C>T) c.880C>T (p.Pro294Ser) | dbSNP gnomAD v4 |
3 | g.45476619C>A | CA352424019 | LARS2 | c.1010C>A (p.Pro337His) c.*878C>A (n.*878C>A) c.881C>A (p.Pro294His) | |
3 | g.45476619C>G | CA352424017 | LARS2 | c.1010C>G (p.Pro337Arg) c.*878C>G (n.*878C>G) c.881C>G (p.Pro294Arg) | |
3 | g.45476619C>T | CA352424016 | LARS2 | c.1010C>T (p.Pro337Leu) c.*878C>T (n.*878C>T) c.881C>T (p.Pro294Leu) | |
3 | g.45476620T>A | CA433433089 | LARS2 | c.1011T>A (p.Pro337=) c.*879T>A (n.*879T>A) c.882T>A (p.Pro294=) | |
3 | g.45476620T>C | CA433433090 | LARS2 | c.1011T>C (p.Pro337=) c.*879T>C (n.*879T>C) c.882T>C (p.Pro294=) | |
3 | g.45476620T>G | CA433433091 | LARS2 | c.1011T>G (p.Pro337=) c.*879T>G (n.*879T>G) c.882T>G (p.Pro294=) | |
3 | g.45476621G>A | CA352424021 | LARS2 | c.1012G>A (p.Gly338Ser) c.*880G>A (n.*880G>A) c.883G>A (p.Gly295Ser) | |
3 | g.45476621G>C | CA352424023 | LARS2 | c.1012G>C (p.Gly338Arg) c.*880G>C (n.*880G>C) c.883G>C (p.Gly295Arg) | |
3 | g.45476621G>T | CA352424024 | LARS2 | c.1012G>T (p.Gly338Cys) c.*880G>T (n.*880G>T) c.883G>T (p.Gly295Cys) | |
3 | g.45476622G>A | CA352424025 | LARS2 | c.1013G>A (p.Gly338Asp) c.*881G>A (n.*881G>A) c.884G>A (p.Gly295Asp) | COSMIC |
3 | g.45476622G>C | CA352424026 | LARS2 | c.1013G>C (p.Gly338Ala) c.*881G>C (n.*881G>C) c.884G>C (p.Gly295Ala) | |
3 | g.45476622G>T | CA352424027 | LARS2 | c.1013G>T (p.Gly338Val) c.*881G>T (n.*881G>T) c.884G>T (p.Gly295Val) | |
3 | g.45476623C>A | CA433433092 | LARS2 | c.1014C>A (p.Gly338=) c.*882C>A (n.*882C>A) c.885C>A (p.Gly295=) | |
3 | g.45476623C>G | CA433433094 | LARS2 | c.1014C>G (p.Gly338=) c.*882C>G (n.*882C>G) c.885C>G (p.Gly295=) | |
3 | g.45476623C>T | CA433433093 | LARS2 | c.1014C>T (p.Gly338=) c.*882C>T (n.*882C>T) c.885C>T (p.Gly295=) | |
3 | g.45476624A>C | CA352424029 | LARS2 | c.1015A>C (p.Lys339Gln) c.*883A>C (n.*883A>C) c.886A>C (p.Lys296Gln) | |
3 | g.45476624A>G | CA352424031 | LARS2 | c.1015A>G (p.Lys339Glu) c.*883A>G (n.*883A>G) c.886A>G (p.Lys296Glu) | |
3 | g.45476624A>T | CA352424032 | LARS2 | c.1015A>T (p.Lys339Ter) c.*883A>T (n.*883A>T) c.886A>T (p.Lys296Ter) | |
3 | g.45476625A>C | CA352424033 | LARS2 | c.1016A>C (p.Lys339Thr) c.*884A>C (n.*884A>C) c.887A>C (p.Lys296Thr) | |
3 | g.45476625A>G | CA352424034 | LARS2 | c.1016A>G (p.Lys339Arg) c.*884A>G (n.*884A>G) c.887A>G (p.Lys296Arg) | |
3 | g.45476625A>T | CA352424035 | LARS2 | c.1016A>T (p.Lys339Ile) c.*884A>T (n.*884A>T) c.887A>T (p.Lys296Ile) | |
3 | g.45476626A= | CA1361691420 | LARS2 | c.1017A= (p.Lys339=) c.*885A= (n.*885A=) c.888A= (p.Lys296=) | |
3 | g.45476626A>C | CA352424037 | LARS2 | c.1017A>C (p.Lys339Asn) c.*885A>C (n.*885A>C) c.888A>C (p.Lys296Asn) | |
3 | g.45476626A>G | CA73581526 | LARS2 | c.1017A>G (p.Lys339=) c.*885A>G (n.*885A>G) c.888A>G (p.Lys296=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.45476626A>T | CA352424038 | LARS2 | c.1017A>T (p.Lys339Asn) c.*885A>T (n.*885A>T) c.888A>T (p.Lys296Asn) | |
3 | g.45476627G>A | CA352424040 | LARS2 | c.1018G>A (p.Asp340Asn) c.*886G>A (n.*886G>A) c.889G>A (p.Asp297Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476627G>C | CA352424042 | LARS2 | c.1018G>C (p.Asp340His) c.*886G>C (n.*886G>C) c.889G>C (p.Asp297His) | |
3 | g.45476627G= | CA1361691421 | LARS2 | c.1018G= (p.Asp340=) c.*886G= (n.*886G=) c.889G= (p.Asp297=) | |
3 | g.45476627G>T | CA352424043 | LARS2 | c.1018G>T (p.Asp340Tyr) c.*886G>T (n.*886G>T) c.889G>T (p.Asp297Tyr) | |
3 | g.45476628G>A | CA352424045 | LARS2 | c.1018+1G>A (n.1018+1G>A) c.*886+1G>A (n.*886+1G>A) c.889+1G>A (n.889+1G>A) | |
3 | g.45476628G>C | CA352424047 | LARS2 | c.1018+1G>C (n.1018+1G>C) c.*886+1G>C (n.*886+1G>C) c.889+1G>C (n.889+1G>C) | |
3 | g.45476628G= | CA1361691422 | LARS2 | c.1018+1G= (n.1018+1G=) c.*886+1G= (n.*886+1G=) c.889+1G= (n.889+1G=) | |
3 | g.45476628G>T | CA352424049 | LARS2 | c.1018+1G>T (n.1018+1G>T) c.*886+1G>T (n.*886+1G>T) c.889+1G>T (n.889+1G>T) | dbSNP |
3 | g.45476629T>A | CA352424050 | LARS2 | c.1018+2T>A (n.1018+2T>A) c.*886+2T>A (n.*886+2T>A) c.889+2T>A (n.889+2T>A) | gnomAD v4 |
3 | g.45476629T>C | CA352424051 | LARS2 | c.1018+2T>C (n.1018+2T>C) c.*886+2T>C (n.*886+2T>C) c.889+2T>C (n.889+2T>C) | |
3 | g.45476629T>G | CA352424053 | LARS2 | c.1018+2T>G (n.1018+2T>G) c.*886+2T>G (n.*886+2T>G) c.889+2T>G (n.889+2T>G) | |
3 | g.45476630G>C | CA2756074112 | LARS2 | c.1018+3G>C (n.1018+3G>C) c.*886+3G>C (n.*886+3G>C) c.889+3G>C (n.889+3G>C) | |
3 | g.45476631A>C | CA2756074113 | LARS2 | c.1018+4A>C (n.1018+4A>C) c.*886+4A>C (n.*886+4A>C) c.889+4A>C (n.889+4A>C) | |
3 | g.45476632G= | CA1361691423 | LARS2 | c.1018+5G= (n.1018+5G=) c.*886+5G= (n.*886+5G=) c.889+5G= (n.889+5G=) | |
3 | g.45476632G>T | CA2349472 | LARS2 | c.1018+5G>T (n.1018+5G>T) c.*886+5G>T (n.*886+5G>T) c.889+5G>T (n.889+5G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476633C>T | CA2665386324 | LARS2 | c.1018+6C>T (n.1018+6C>T) c.*886+6C>T (n.*886+6C>T) c.889+6C>T (n.889+6C>T) | gnomAD v4 |
3 | g.45476636G= | CA1361691424 | LARS2 | c.1018+9G= (n.1018+9G=) c.*886+9G= (n.*886+9G=) c.889+9G= (n.889+9G=) | |
3 | g.45476636G>T | CA2349473 | LARS2 | c.1018+9G>T (n.1018+9G>T) c.*886+9G>T (n.*886+9G>T) c.889+9G>T (n.889+9G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476638A= | CA1361691425 | LARS2 | c.1018+11A= (n.1018+11A=) c.*886+11A= (n.*886+11A=) c.889+11A= (n.889+11A=) | |
3 | g.45476638A>C | CA543040664 | LARS2 | c.1018+11A>C (n.1018+11A>C) c.*886+11A>C (n.*886+11A>C) c.889+11A>C (n.889+11A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45476639A>T | CA2697550847 | LARS2 | c.1018+12A>T (n.1018+12A>T) c.*886+12A>T (n.*886+12A>T) c.889+12A>T (n.889+12A>T) | ClinVar |
3 | g.45476641T>C | CA2739278783 | LARS2 | c.1018+14T>C (n.1018+14T>C) c.*886+14T>C (n.*886+14T>C) c.889+14T>C (n.889+14T>C) | ClinVar |
3 | g.45476642T>A | CA907481534 | LARS2 | c.1018+15T>A (n.1018+15T>A) c.*886+15T>A (n.*886+15T>A) c.889+15T>A (n.889+15T>A) | dbSNP |
3 | g.45476642T>G | CA2577571006 | LARS2 | c.1018+15T>G (n.1018+15T>G) c.*886+15T>G (n.*886+15T>G) c.889+15T>G (n.889+15T>G) | |
3 | g.45476642T= | CA1361691426 | LARS2 | c.1018+15T= (n.1018+15T=) c.*886+15T= (n.*886+15T=) c.889+15T= (n.889+15T=) | |
3 | g.45476644dup | CA2349474 | LARS2 | c.1018+17dup (n.1018+17dup) c.*886+17dup (n.*886+17dup) c.889+17dup (n.889+17dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476645C>A | CA2739278784 | LARS2 | c.1018+18C>A (n.1018+18C>A) c.*886+18C>A (n.*886+18C>A) c.889+18C>A (n.889+18C>A) | ClinVar |
3 | g.45476645C= | CA1361691427 | LARS2 | c.1018+18C= (n.1018+18C=) c.*886+18C= (n.*886+18C=) c.889+18C= (n.889+18C=) | |
3 | g.45476645C>T | CA2349475 | LARS2 | c.1018+18C>T (n.1018+18C>T) c.*886+18C>T (n.*886+18C>T) c.889+18C>T (n.889+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476646G>A | CA2349476 | LARS2 | c.1018+19G>A (n.1018+19G>A) c.*886+19G>A (n.*886+19G>A) c.889+19G>A (n.889+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476646G= | CA1361691428 | LARS2 | c.1018+19G= (n.1018+19G=) c.*886+19G= (n.*886+19G=) c.889+19G= (n.889+19G=) | |
3 | g.45476646G>T | CA1361691429 | LARS2 | c.1018+19G>T (n.1018+19G>T) c.*886+19G>T (n.*886+19G>T) c.889+19G>T (n.889+19G>T) | dbSNP |
3 | g.45476647G>A | CA2665386325 | LARS2 | c.1018+20G>A (n.1018+20G>A) c.*886+20G>A (n.*886+20G>A) c.889+20G>A (n.889+20G>A) | gnomAD v4 |
3 | g.45476648C= | CA1361691430 | LARS2 | c.1018+21C= (n.1018+21C=) c.*886+21C= (n.*886+21C=) c.889+21C= (n.889+21C=) | |
3 | g.45476648C>T | CA907481544 | LARS2 | c.1018+21C>T (n.1018+21C>T) c.*886+21C>T (n.*886+21C>T) c.889+21C>T (n.889+21C>T) | dbSNP gnomAD v3 gnomAD v4 |