Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.197705407_197707188dupCA645372705MARS2c.2_*1dup (n.2_*1dup)
ClinVar
2g.197706503C>ACA430823935MARS2c.1098C>A (p.Thr366=)
2g.197706503C=CA1319360505MARS2c.1098C= (p.Thr366=)
2g.197706503C>GCA430823937MARS2c.1098C>G (p.Thr366=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.197706503C>TCA62878852MARS2c.1098C>T (p.Thr366=)
dbSNP gnomAD v3 gnomAD v4
2g.197706504G>ACA350213772MARS2c.1099G>A (p.Val367Met)
2g.197706504G>CCA350213773MARS2c.1099G>C (p.Val367Leu)
2g.197706504G=CA1319360507MARS2c.1099G= (p.Val367=)
2g.197706504G>TCA2044691MARS2c.1099G>T (p.Val367Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.197706505T>ACA350213775MARS2c.1100T>A (p.Val367Glu)
2g.197706505T>CCA350213774MARS2c.1100T>C (p.Val367Ala)
2g.197706505T>GCA350213776MARS2c.1100T>G (p.Val367Gly)
2g.197706505T=CA1319360511MARS2c.1100T= (p.Val367=)
2g.197706505_197706506insACA2662524357MARS2c.1100_1101insA (p.Asp368GlyfsTer18)
gnomAD v4
2g.197706505_197706506insAGCA916747672MARS2c.1100_1101insAG (p.Asp368GlyfsTer29)
dbSNP
2g.197706506G>ACA430823942MARS2c.1101G>A (p.Val367=)
2g.197706506G>CCA430823944MARS2c.1101G>C (p.Val367=)
2g.197706506G>TCA430823943MARS2c.1101G>T (p.Val367=)
2g.197706507G>ACA350213777MARS2c.1102G>A (p.Asp368Asn)
2g.197706507G>CCA350213778MARS2c.1102G>C (p.Asp368His)
2g.197706507G=CA1319360514MARS2c.1102G= (p.Asp368=)
2g.197706507G>TCA350213779MARS2c.1102G>T (p.Asp368Tyr)
dbSNP gnomAD v4
2g.197706507_197706508insTCA2662524358MARS2c.1102_1103insT (p.Asp368ValfsTer18)
gnomAD v4
2g.197706508A>CCA350213780MARS2c.1103A>C (p.Asp368Ala)
2g.197706508A>GCA350213781MARS2c.1103A>G (p.Asp368Gly)
2g.197706508A>TCA350213782MARS2c.1103A>T (p.Asp368Val)
2g.197706509T>ACA350213783MARS2c.1104T>A (p.Asp368Glu)
2g.197706509T>CCA430823949MARS2c.1104T>C (p.Asp368=)
gnomAD v4
2g.197706509T>GCA350213784MARS2c.1104T>G (p.Asp368Glu)
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=)

Number of alleles fetched