| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.4862821_4862825dup | CA2586973673 | MSX1 | c.590_594dup (p.Ile199CysfsTer20) n.302_306dup | |
| 4 | g.4862822G>A | CA438366047 | MSX1 | c.591G>A (p.Leu197=) n.303G>A | |
| 4 | g.4862822G>C | CA438366049 | MSX1 | c.591G>C (p.Leu197=) n.303G>C | |
| 4 | g.4862822G>T | CA438366051 | MSX1 | c.591G>T (p.Leu197=) n.303G>T | |
| 4 | g.4862823T>A | CA356138432 | MSX1 | c.592T>A (p.Ser198Thr) n.304T>A | |
| 4 | g.4862823T>C | CA356138433 | MSX1 | c.592T>C (p.Ser198Pro) n.304T>C | |
| 4 | g.4862823T>G | CA356138434 | MSX1 | c.592T>G (p.Ser198Ala) n.304T>G | |
| 4 | g.4862824C>A | CA356138435 | MSX1 | c.593C>A (p.Ser198Tyr) n.305C>A | |
| 4 | g.4862824C>G | CA356138436 | MSX1 | c.593C>G (p.Ser198Cys) n.305C>G | |
| 4 | g.4862824C>T | CA356138437 | MSX1 | c.593C>T (p.Ser198Phe) n.305C>T | |
| 4 | g.4862825C>A | CA438366052 | MSX1 | c.594C>A (p.Ser198=) n.306C>A | |
| 4 | g.4862825C>G | CA438366054 | MSX1 | c.594C>G (p.Ser198=) n.306C>G | |
| 4 | g.4862825C>T | CA438366055 | MSX1 | c.594C>T (p.Ser198=) n.306C>T | |
| 4 | g.4862826A= | CA1435013666 | MSX1 | c.595A= (p.Ile199=) n.307A= | |
| 4 | g.4862826A>C | CA356138438 | MSX1 | c.595A>C (p.Ile199Leu) n.307A>C | |
| 4 | g.4862826A>G | CA356138439 | MSX1 | c.595A>G (p.Ile199Val) n.307A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862826A>T | CA356138440 | MSX1 | c.595A>T (p.Ile199Phe) n.307A>T | |
| 4 | g.4862827T>A | CA356138442 | MSX1 | c.596T>A (p.Ile199Asn) n.308T>A | |
| 4 | g.4862827T>C | CA356138443 | MSX1 | c.596T>C (p.Ile199Thr) n.308T>C | |
| 4 | g.4862827T>G | CA356138441 | MSX1 | c.596T>G (p.Ile199Ser) n.308T>G | |
| 4 | g.4862828C>A | CA438366059 | MSX1 | c.597C>A (p.Ile199=) n.309C>A | |
| 4 | g.4862828C= | CA1435013667 | MSX1 | c.597C= (p.Ile199=) n.309C= | |
| 4 | g.4862828C>G | CA356138444 | MSX1 | c.597C>G (p.Ile199Met) n.309C>G | |
| 4 | g.4862828C>T | CA2833080 | MSX1 | c.597C>T (p.Ile199=) n.309C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862829G>A | CA356138445 | MSX1 | c.598G>A (p.Ala200Thr) n.310G>A | gnomAD v4 |
| 4 | g.4862829G>C | CA356138447 | MSX1 | c.598G>C (p.Ala200Pro) n.310G>C | |
| 4 | g.4862829G>T | CA356138446 | MSX1 | c.598G>T (p.Ala200Ser) n.310G>T | |
| 4 | g.4862830C>A | CA356138448 | MSX1 | c.599C>A (p.Ala200Asp) n.311C>A | COSMIC |
| 4 | g.4862830C= | CA1435013668 | MSX1 | c.599C= (p.Ala200=) n.311C= | |
| 4 | g.4862830C>G | CA356138449 | MSX1 | c.599C>G (p.Ala200Gly) n.311C>G | |
| 4 | g.4862830C>T | CA356138450 | MSX1 | c.599C>T (p.Ala200Val) n.311C>T | ClinVar dbSNP |
| 4 | g.4862831C>A | CA438366061 | MSX1 | c.600C>A (p.Ala200=) n.312C>A | |
| 4 | g.4862831C= | CA1435013669 | MSX1 | c.600C= (p.Ala200=) n.312C= | |
| 4 | g.4862831C>G | CA438366062 | MSX1 | c.600C>G (p.Ala200=) n.312C>G | |
| 4 | g.4862831C>T | CA438366063 | MSX1 | c.600C>T (p.Ala200=) n.312C>T | gnomAD v4 |
| 4 | g.4862832G>A | CA356138451 | MSX1 | c.601G>A (p.Glu201Lys) n.313G>A | |
| 4 | g.4862832G>C | CA356138452 | MSX1 | c.601G>C (p.Glu201Gln) n.313G>C | gnomAD v4 |
| 4 | g.4862832G>T | CA356138453 | MSX1 | c.601G>T (p.Glu201Ter) n.313G>T | |
| 4 | g.4862833_4862834dup | CA549707243 | MSX1 | c.602_603dup (p.Arg202SerfsTer16) n.314_315dup | dbSNP gnomAD v2 |
| 4 | g.4862833A>C | CA356138454 | MSX1 | c.602A>C (p.Glu201Ala) n.314A>C | |
| 4 | g.4862833A>G | CA356138455 | MSX1 | c.602A>G (p.Glu201Gly) n.314A>G | |
| 4 | g.4862833A>T | CA356138456 | MSX1 | c.602A>T (p.Glu201Val) n.314A>T | |
| 4 | g.4862834G>A | CA438366065 | MSX1 | c.603G>A (p.Glu201=) n.315G>A | |
| 4 | g.4862834G>C | CA356138457 | MSX1 | c.603G>C (p.Glu201Asp) n.315G>C | |
| 4 | g.4862834G>T | CA356138458 | MSX1 | c.603G>T (p.Glu201Asp) n.315G>T | |
| 4 | g.4862839_4862840del | CA2586973674 | MSX1 | c.608_609del (p.Ala203GlyfsTer10) n.320_321del | |
| 4 | g.4862835C>A | CA356138460 | MSX1 | c.604C>A (p.Arg202Ser) n.316C>A | |
| 4 | g.4862835C= | CA1435013670 | MSX1 | c.604C= (p.Arg202=) n.316C= | |
| 4 | g.4862835C>G | CA2833081 | MSX1 | c.604C>G (p.Arg202Gly) n.316C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862835C>T | CA356138459 | MSX1 | c.604C>T (p.Arg202Cys) n.316C>T | gnomAD v4 |