Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.197705407_197707188dup | CA645372705 | MARS2 | c.2_*1dup (n.2_*1dup) | ClinVar |
2 | g.197706404G>A | CA430823653 | MARS2 | c.999G>A (p.Gln333=) | |
2 | g.197706404G>C | CA350213553 | MARS2 | c.999G>C (p.Gln333His) | |
2 | g.197706404G>T | CA350213554 | MARS2 | c.999G>T (p.Gln333His) | |
2 | g.197706405C>A | CA350213555 | MARS2 | c.1000C>A (p.Arg334Ser) | |
2 | g.197706405C= | CA1319360359 | MARS2 | c.1000C= (p.Arg334=) | |
2 | g.197706405C>G | CA350213556 | MARS2 | c.1000C>G (p.Arg334Gly) | |
2 | g.197706405C>T | CA350213557 | MARS2 | c.1000C>T (p.Arg334Cys) | dbSNP gnomAD v4 |
2 | g.197706406G>A | CA2044673 | MARS2 | c.1001G>A (p.Arg334His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.197706406G>C | CA350213559 | MARS2 | c.1001G>C (p.Arg334Pro) | |
2 | g.197706406G= | CA1319360361 | MARS2 | c.1001G= (p.Arg334=) | |
2 | g.197706406G>T | CA350213558 | MARS2 | c.1001G>T (p.Arg334Leu) | |
2 | g.197706407C>A | CA430823670 | MARS2 | c.1002C>A (p.Arg334=) | |
2 | g.197706407C>G | CA430823667 | MARS2 | c.1002C>G (p.Arg334=) | |
2 | g.197706407C>T | CA430823668 | MARS2 | c.1002C>T (p.Arg334=) | |
2 | g.197706408A>C | CA350213560 | MARS2 | c.1003A>C (p.Ile335Leu) | |
2 | g.197706408A>G | CA350213561 | MARS2 | c.1003A>G (p.Ile335Val) | gnomAD v4 |
2 | g.197706408A>T | CA350213562 | MARS2 | c.1003A>T (p.Ile335Phe) | |
2 | g.197706409T>A | CA350213563 | MARS2 | c.1004T>A (p.Ile335Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.197706409T>C | CA350213564 | MARS2 | c.1004T>C (p.Ile335Thr) | |
2 | g.197706409T>G | CA350213565 | MARS2 | c.1004T>G (p.Ile335Ser) | |
2 | g.197706409T= | CA1319360365 | MARS2 | c.1004T= (p.Ile335=) | |
2 | g.197706410C>A | CA430823676 | MARS2 | c.1005C>A (p.Ile335=) | |
2 | g.197706410C>G | CA350213566 | MARS2 | c.1005C>G (p.Ile335Met) | |
2 | g.197706410C>T | CA430823677 | MARS2 | c.1005C>T (p.Ile335=) | gnomAD v4 |
2 | g.197706411T>A | CA350213567 | MARS2 | c.1006T>A (p.Cys336Ser) | |
2 | g.197706411T>C | CA350213568 | MARS2 | c.1006T>C (p.Cys336Arg) | |
2 | g.197706411T>G | CA350213569 | MARS2 | c.1006T>G (p.Cys336Gly) | |
2 | g.197706412G>A | CA350213572 | MARS2 | c.1007G>A (p.Cys336Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.197706412G>C | CA350213571 | MARS2 | c.1007G>C (p.Cys336Ser) | |
2 | g.197706412G= | CA1319360368 | MARS2 | c.1007G= (p.Cys336=) | |
2 | g.197706412G>T | CA350213570 | MARS2 | c.1007G>T (p.Cys336Phe) | |
2 | g.197706413T>A | CA350213573 | MARS2 | c.1008T>A (p.Cys336Ter) | |
2 | g.197706413T>C | CA430823685 | MARS2 | c.1008T>C (p.Cys336=) | |
2 | g.197706413T>G | CA350213574 | MARS2 | c.1008T>G (p.Cys336Trp) | |
2 | g.197706414G>A | CA350213575 | MARS2 | c.1009G>A (p.Val337Ile) | |
2 | g.197706414G>C | CA350213576 | MARS2 | c.1009G>C (p.Val337Leu) | dbSNP gnomAD v4 |
2 | g.197706414G= | CA1319360370 | MARS2 | c.1009G= (p.Val337=) | |
2 | g.197706414G>T | CA350213577 | MARS2 | c.1009G>T (p.Val337Phe) | |
2 | g.197706415T>A | CA350213578 | MARS2 | c.1010T>A (p.Val337Asp) | |
2 | g.197706415T>C | CA350213579 | MARS2 | c.1010T>C (p.Val337Ala) | |
2 | g.197706415T>G | CA350213580 | MARS2 | c.1010T>G (p.Val337Gly) | |
2 | g.197706416C>A | CA430823693 | MARS2 | c.1011C>A (p.Val337=) | |
2 | g.197706416C= | CA1319360373 | MARS2 | c.1011C= (p.Val337=) | |
2 | g.197706416C>G | CA430823694 | MARS2 | c.1011C>G (p.Val337=) | |
2 | g.197706416C>T | CA2044674 | MARS2 | c.1011C>T (p.Val337=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.197706417C>A | CA350213581 | MARS2 | c.1012C>A (p.His338Asn) | |
2 | g.197706417C>G | CA350213582 | MARS2 | c.1012C>G (p.His338Asp) | |
2 | g.197706417C>T | CA350213583 | MARS2 | c.1012C>T (p.His338Tyr) | |
2 | g.197706418A= | CA1319360377 | MARS2 | c.1013A= (p.His338=) |