Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.197705407_197707188dupCA645372705MARS2c.2_*1dup (n.2_*1dup)
ClinVar
2g.197706085_197706353delinsGGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCATCA1319359945MARS2c.680_948delinsGGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCAT (p.Arg227=)
2g.197706087_197706354delCA150598MARS2c.682_949del (p.Gly228ProfsTer9)
ClinVar dbSNP
2g.197706302_197706305delinsTTGGCA1319360231MARS2c.897_900delinsTTGG (p.Ser299=)
2g.197706306_197706308delCA538917141MARS2c.901_903del (p.Trp301del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.197706304G>ACA350213329MARS2c.899G>A (p.Trp300Ter)
dbSNP gnomAD v4
2g.197706304G>CCA350213330MARS2c.899G>C (p.Trp300Ser)
dbSNP gnomAD v4
2g.197706304G=CA1319360234MARS2c.899G= (p.Trp300=)
2g.197706304G>TCA350213331MARS2c.899G>T (p.Trp300Leu)
2g.197706305G>ACA350213332MARS2c.900G>A (p.Trp300Ter)
2g.197706305G>CCA350213333MARS2c.900G>C (p.Trp300Cys)
2g.197706305G>TCA350213334MARS2c.900G>T (p.Trp300Cys)
2g.197706306T>ACA350213335MARS2c.901T>A (p.Trp301Arg)
2g.197706306T>CCA350213336MARS2c.901T>C (p.Trp301Arg)
gnomAD v4
2g.197706306T>GCA350213337MARS2c.901T>G (p.Trp301Gly)
2g.197706307G>ACA350213338MARS2c.902G>A (p.Trp301Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.197706307G>CCA350213340MARS2c.902G>C (p.Trp301Ser)
2g.197706307G=CA1319360236MARS2c.902G= (p.Trp301=)
2g.197706307G>TCA350213339MARS2c.902G>T (p.Trp301Leu)
2g.197706308G>ACA350213341MARS2c.903G>A (p.Trp301Ter)
2g.197706308G>CCA350213342MARS2c.903G>C (p.Trp301Cys)
2g.197706308G>TCA350213343MARS2c.903G>T (p.Trp301Cys)
2g.197706309C>ACA350213344MARS2c.904C>A (p.Pro302Thr)
2g.197706309C=CA1319360238MARS2c.904C= (p.Pro302=)
2g.197706309C>GCA350213345MARS2c.904C>G (p.Pro302Ala)
2g.197706309C>TCA62878761MARS2c.904C>T (p.Pro302Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.197706310C>ACA350213346MARS2c.905C>A (p.Pro302Gln)
2g.197706310C=CA1319360241MARS2c.905C= (p.Pro302=)
2g.197706310C>GCA350213347MARS2c.905C>G (p.Pro302Arg)
2g.197706310C>TCA350213348MARS2c.905C>T (p.Pro302Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.197706311G>ACA2044658MARS2c.906G>A (p.Pro302=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.197706311G>CCA430823613MARS2c.906G>C (p.Pro302=)
2g.197706311G=CA1319360244MARS2c.906G= (p.Pro302=)
2g.197706311G>TCA430823611MARS2c.906G>T (p.Pro302=)
2g.197706312G>ACA350213349MARS2c.907G>A (p.Ala303Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.197706312G>CCA350213350MARS2c.907G>C (p.Ala303Pro)
2g.197706312G=CA1319360249MARS2c.907G= (p.Ala303=)
2g.197706312G>TCA350213351MARS2c.907G>T (p.Ala303Ser)
2g.197706313C>ACA350213354MARS2c.908C>A (p.Ala303Asp)
2g.197706313C>GCA350213352MARS2c.908C>G (p.Ala303Gly)
2g.197706313C>TCA350213353MARS2c.908C>T (p.Ala303Val)
2g.197706314C>ACA430823628MARS2c.909C>A (p.Ala303=)
2g.197706314C>GCA430823632MARS2c.909C>G (p.Ala303=)
2g.197706314C>TCA430823633MARS2c.909C>T (p.Ala303=)
2g.197706315A>CCA350213355MARS2c.910A>C (p.Thr304Pro)
2g.197706315A>GCA350213356MARS2c.910A>G (p.Thr304Ala)
2g.197706315A>TCA350213357MARS2c.910A>T (p.Thr304Ser)
2g.197706316C>ACA350213358MARS2c.911C>A (p.Thr304Asn)
2g.197706316C>GCA350213359MARS2c.911C>G (p.Thr304Ser)
2g.197706316C>TCA350213360MARS2c.911C>T (p.Thr304Ile)

Number of alleles fetched