Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.197705407_197707188dup | CA645372705 | MARS2 | c.2_*1dup (n.2_*1dup) | ClinVar |
2 | g.197706510G>A | CA2044692 | MARS2 | c.1105G>A (p.Gly369Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.197706510G>C | CA350213787 | MARS2 | c.1105G>C (p.Gly369Arg) | |
2 | g.197706510G= | CA1319360517 | MARS2 | c.1105G= (p.Gly369=) | |
2 | g.197706510G>T | CA350213788 | MARS2 | c.1105G>T (p.Gly369Cys) | |
2 | g.197706511G>A | CA350213790 | MARS2 | c.1106G>A (p.Gly369Asp) | |
2 | g.197706511G>C | CA350213791 | MARS2 | c.1106G>C (p.Gly369Ala) | |
2 | g.197706511G>T | CA350213793 | MARS2 | c.1106G>T (p.Gly369Val) | |
2 | g.197706512C>A | CA430823958 | MARS2 | c.1107C>A (p.Gly369=) | |
2 | g.197706512C>G | CA430823960 | MARS2 | c.1107C>G (p.Gly369=) | |
2 | g.197706512C>T | CA430823962 | MARS2 | c.1107C>T (p.Gly369=) | gnomAD v4 |
2 | g.197706513T>A | CA350213797 | MARS2 | c.1108T>A (p.Phe370Ile) | |
2 | g.197706513T>C | CA350213796 | MARS2 | c.1108T>C (p.Phe370Leu) | |
2 | g.197706513T>G | CA350213794 | MARS2 | c.1108T>G (p.Phe370Val) | |
2 | g.197706514T>A | CA350213799 | MARS2 | c.1109T>A (p.Phe370Tyr) | |
2 | g.197706514T>C | CA350213800 | MARS2 | c.1109T>C (p.Phe370Ser) | |
2 | g.197706514T>G | CA350213801 | MARS2 | c.1109T>G (p.Phe370Cys) | |
2 | g.197706515C>A | CA350213803 | MARS2 | c.1110C>A (p.Phe370Leu) | |
2 | g.197706515C>G | CA350213805 | MARS2 | c.1110C>G (p.Phe370Leu) | |
2 | g.197706515C>T | CA430823975 | MARS2 | c.1110C>T (p.Phe370=) | |
2 | g.197706516C>A | CA350213807 | MARS2 | c.1111C>A (p.Arg371Ser) | |
2 | g.197706516C= | CA1319360519 | MARS2 | c.1111C= (p.Arg371=) | |
2 | g.197706516C>G | CA350213808 | MARS2 | c.1111C>G (p.Arg371Gly) | |
2 | g.197706516C>T | CA2044693 | MARS2 | c.1111C>T (p.Arg371Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.197706518_197706532dup | CA2662524359 | MARS2 | c.1113_1127dup (p.Arg376_Gln377insTyrPheLeuLeuArg) | gnomAD v4 |
2 | g.197706517G>A | CA350213818 | MARS2 | c.1112G>A (p.Arg371His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.197706517G>C | CA350213821 | MARS2 | c.1112G>C (p.Arg371Pro) | |
2 | g.197706517G= | CA1319360521 | MARS2 | c.1112G= (p.Arg371=) | |
2 | g.197706517G>T | CA350213823 | MARS2 | c.1112G>T (p.Arg371Leu) | gnomAD v4 |
2 | g.197706518C>A | CA430823979 | MARS2 | c.1113C>A (p.Arg371=) | |
2 | g.197706518C= | CA1319360523 | MARS2 | c.1113C= (p.Arg371=) | |
2 | g.197706518C>G | CA2044694 | MARS2 | c.1113C>G (p.Arg371=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.197706518C>T | CA430823980 | MARS2 | c.1113C>T (p.Arg371=) | |
2 | g.197706519T>A | CA350213826 | MARS2 | c.1114T>A (p.Tyr372Asn) | |
2 | g.197706519T>C | CA350213828 | MARS2 | c.1114T>C (p.Tyr372His) | |
2 | g.197706519T>G | CA350213829 | MARS2 | c.1114T>G (p.Tyr372Asp) | |
2 | g.197706520A>C | CA350213833 | MARS2 | c.1115A>C (p.Tyr372Ser) | |
2 | g.197706520A>G | CA350213834 | MARS2 | c.1115A>G (p.Tyr372Cys) | gnomAD v4 |
2 | g.197706520A>T | CA350213831 | MARS2 | c.1115A>T (p.Tyr372Phe) | |
2 | g.197706521C>A | CA350213836 | MARS2 | c.1116C>A (p.Tyr372Ter) | |
2 | g.197706521C>G | CA350213837 | MARS2 | c.1116C>G (p.Tyr372Ter) | |
2 | g.197706521C>T | CA430823985 | MARS2 | c.1116C>T (p.Tyr372=) | gnomAD v4 |
2 | g.197706522T>A | CA350213839 | MARS2 | c.1117T>A (p.Phe373Ile) | |
2 | g.197706522T>C | CA350213841 | MARS2 | c.1117T>C (p.Phe373Leu) | dbSNP |
2 | g.197706522T>G | CA350213842 | MARS2 | c.1117T>G (p.Phe373Val) | |
2 | g.197706523T>A | CA350213843 | MARS2 | c.1118T>A (p.Phe373Tyr) | |
2 | g.197706523T>C | CA350213845 | MARS2 | c.1118T>C (p.Phe373Ser) | |
2 | g.197706523T>G | CA350213846 | MARS2 | c.1118T>G (p.Phe373Cys) | |
2 | g.197706524T>A | CA350213848 | MARS2 | c.1119T>A (p.Phe373Leu) | |
2 | g.197706524T>C | CA430823993 | MARS2 | c.1119T>C (p.Phe373=) |