Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.197705407_197707188dupCA645372705MARS2c.2_*1dup (n.2_*1dup)
ClinVar
2g.197706510G>ACA2044692MARS2c.1105G>A (p.Gly369Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.197706510G>CCA350213787MARS2c.1105G>C (p.Gly369Arg)
2g.197706510G=CA1319360517MARS2c.1105G= (p.Gly369=)
2g.197706510G>TCA350213788MARS2c.1105G>T (p.Gly369Cys)
2g.197706511G>ACA350213790MARS2c.1106G>A (p.Gly369Asp)
2g.197706511G>CCA350213791MARS2c.1106G>C (p.Gly369Ala)
2g.197706511G>TCA350213793MARS2c.1106G>T (p.Gly369Val)
2g.197706512C>ACA430823958MARS2c.1107C>A (p.Gly369=)
2g.197706512C>GCA430823960MARS2c.1107C>G (p.Gly369=)
2g.197706512C>TCA430823962MARS2c.1107C>T (p.Gly369=)
gnomAD v4
2g.197706513T>ACA350213797MARS2c.1108T>A (p.Phe370Ile)
2g.197706513T>CCA350213796MARS2c.1108T>C (p.Phe370Leu)
2g.197706513T>GCA350213794MARS2c.1108T>G (p.Phe370Val)
2g.197706514T>ACA350213799MARS2c.1109T>A (p.Phe370Tyr)
2g.197706514T>CCA350213800MARS2c.1109T>C (p.Phe370Ser)
2g.197706514T>GCA350213801MARS2c.1109T>G (p.Phe370Cys)
2g.197706515C>ACA350213803MARS2c.1110C>A (p.Phe370Leu)
2g.197706515C>GCA350213805MARS2c.1110C>G (p.Phe370Leu)
2g.197706515C>TCA430823975MARS2c.1110C>T (p.Phe370=)
2g.197706516C>ACA350213807MARS2c.1111C>A (p.Arg371Ser)
2g.197706516C=CA1319360519MARS2c.1111C= (p.Arg371=)
2g.197706516C>GCA350213808MARS2c.1111C>G (p.Arg371Gly)
2g.197706516C>TCA2044693MARS2c.1111C>T (p.Arg371Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.197706518_197706532dupCA2662524359MARS2c.1113_1127dup (p.Arg376_Gln377insTyrPheLeuLeuArg)
gnomAD v4
2g.197706517G>ACA350213818MARS2c.1112G>A (p.Arg371His)
dbSNP gnomAD v3 gnomAD v4
2g.197706517G>CCA350213821MARS2c.1112G>C (p.Arg371Pro)
2g.197706517G=CA1319360521MARS2c.1112G= (p.Arg371=)
2g.197706517G>TCA350213823MARS2c.1112G>T (p.Arg371Leu)
gnomAD v4
2g.197706518C>ACA430823979MARS2c.1113C>A (p.Arg371=)
2g.197706518C=CA1319360523MARS2c.1113C= (p.Arg371=)
2g.197706518C>GCA2044694MARS2c.1113C>G (p.Arg371=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.197706518C>TCA430823980MARS2c.1113C>T (p.Arg371=)
2g.197706519T>ACA350213826MARS2c.1114T>A (p.Tyr372Asn)
2g.197706519T>CCA350213828MARS2c.1114T>C (p.Tyr372His)
2g.197706519T>GCA350213829MARS2c.1114T>G (p.Tyr372Asp)
2g.197706520A>CCA350213833MARS2c.1115A>C (p.Tyr372Ser)
2g.197706520A>GCA350213834MARS2c.1115A>G (p.Tyr372Cys)
gnomAD v4
2g.197706520A>TCA350213831MARS2c.1115A>T (p.Tyr372Phe)
2g.197706521C>ACA350213836MARS2c.1116C>A (p.Tyr372Ter)
2g.197706521C>GCA350213837MARS2c.1116C>G (p.Tyr372Ter)
2g.197706521C>TCA430823985MARS2c.1116C>T (p.Tyr372=)
gnomAD v4
2g.197706522T>ACA350213839MARS2c.1117T>A (p.Phe373Ile)
2g.197706522T>CCA350213841MARS2c.1117T>C (p.Phe373Leu)
dbSNP
2g.197706522T>GCA350213842MARS2c.1117T>G (p.Phe373Val)
2g.197706523T>ACA350213843MARS2c.1118T>A (p.Phe373Tyr)
2g.197706523T>CCA350213845MARS2c.1118T>C (p.Phe373Ser)
2g.197706523T>GCA350213846MARS2c.1118T>G (p.Phe373Cys)
2g.197706524T>ACA350213848MARS2c.1119T>A (p.Phe373Leu)
2g.197706524T>CCA430823993MARS2c.1119T>C (p.Phe373=)

Number of alleles fetched