Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.197705407_197707188dup | CA645372705 | MARS2 | c.2_*1dup (n.2_*1dup) | ClinVar |
2 | g.197706499A= | CA1319360500 | MARS2 | c.1094A= (p.Tyr365=) | |
2 | g.197706499A>C | CA350213762 | MARS2 | c.1094A>C (p.Tyr365Ser) | |
2 | g.197706499A>G | CA320245 | MARS2 | c.1094A>G (p.Tyr365Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.197706499A>T | CA350213763 | MARS2 | c.1094A>T (p.Tyr365Phe) | |
2 | g.197706500T>A | CA350213764 | MARS2 | c.1095T>A (p.Tyr365Ter) | |
2 | g.197706500T>C | CA430823929 | MARS2 | c.1095T>C (p.Tyr365=) | |
2 | g.197706500T>G | CA350213765 | MARS2 | c.1095T>G (p.Tyr365Ter) | |
2 | g.197706501A>C | CA350213766 | MARS2 | c.1096A>C (p.Thr366Pro) | |
2 | g.197706501A>G | CA350213767 | MARS2 | c.1096A>G (p.Thr366Ala) | gnomAD v4 |
2 | g.197706501A>T | CA350213768 | MARS2 | c.1096A>T (p.Thr366Ser) | |
2 | g.197706502C>A | CA350213769 | MARS2 | c.1097C>A (p.Thr366Asn) | |
2 | g.197706502C>G | CA350213770 | MARS2 | c.1097C>G (p.Thr366Ser) | gnomAD v4 |
2 | g.197706502C>T | CA350213771 | MARS2 | c.1097C>T (p.Thr366Ile) | gnomAD v4 |
2 | g.197706503C>A | CA430823935 | MARS2 | c.1098C>A (p.Thr366=) | |
2 | g.197706503C= | CA1319360505 | MARS2 | c.1098C= (p.Thr366=) | |
2 | g.197706503C>G | CA430823937 | MARS2 | c.1098C>G (p.Thr366=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.197706503C>T | CA62878852 | MARS2 | c.1098C>T (p.Thr366=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.197706504G>A | CA350213772 | MARS2 | c.1099G>A (p.Val367Met) | |
2 | g.197706504G>C | CA350213773 | MARS2 | c.1099G>C (p.Val367Leu) | |
2 | g.197706504G= | CA1319360507 | MARS2 | c.1099G= (p.Val367=) | |
2 | g.197706504G>T | CA2044691 | MARS2 | c.1099G>T (p.Val367Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.197706505T>A | CA350213775 | MARS2 | c.1100T>A (p.Val367Glu) | |
2 | g.197706505T>C | CA350213774 | MARS2 | c.1100T>C (p.Val367Ala) | |
2 | g.197706505T>G | CA350213776 | MARS2 | c.1100T>G (p.Val367Gly) | |
2 | g.197706505T= | CA1319360511 | MARS2 | c.1100T= (p.Val367=) | |
2 | g.197706505_197706506insA | CA2662524357 | MARS2 | c.1100_1101insA (p.Asp368GlyfsTer18) | gnomAD v4 |
2 | g.197706505_197706506insAG | CA916747672 | MARS2 | c.1100_1101insAG (p.Asp368GlyfsTer29) | dbSNP |
2 | g.197706506G>A | CA430823942 | MARS2 | c.1101G>A (p.Val367=) | |
2 | g.197706506G>C | CA430823944 | MARS2 | c.1101G>C (p.Val367=) | |
2 | g.197706506G>T | CA430823943 | MARS2 | c.1101G>T (p.Val367=) | |
2 | g.197706507G>A | CA350213777 | MARS2 | c.1102G>A (p.Asp368Asn) | |
2 | g.197706507G>C | CA350213778 | MARS2 | c.1102G>C (p.Asp368His) | |
2 | g.197706507G= | CA1319360514 | MARS2 | c.1102G= (p.Asp368=) | |
2 | g.197706507G>T | CA350213779 | MARS2 | c.1102G>T (p.Asp368Tyr) | dbSNP gnomAD v4 |
2 | g.197706507_197706508insT | CA2662524358 | MARS2 | c.1102_1103insT (p.Asp368ValfsTer18) | gnomAD v4 |
2 | g.197706508A>C | CA350213780 | MARS2 | c.1103A>C (p.Asp368Ala) | |
2 | g.197706508A>G | CA350213781 | MARS2 | c.1103A>G (p.Asp368Gly) | |
2 | g.197706508A>T | CA350213782 | MARS2 | c.1103A>T (p.Asp368Val) | |
2 | g.197706509T>A | CA350213783 | MARS2 | c.1104T>A (p.Asp368Glu) | |
2 | g.197706509T>C | CA430823949 | MARS2 | c.1104T>C (p.Asp368=) | gnomAD v4 |
2 | g.197706509T>G | CA350213784 | MARS2 | c.1104T>G (p.Asp368Glu) | |
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=) |