| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.4862815A>C | CA356138414 | MSX1 | c.584A>C (p.Gln195Pro) n.296A>C | gnomAD v4 |
| 4 | g.4862815A>G | CA356138415 | MSX1 | c.584A>G (p.Gln195Arg) n.296A>G | |
| 4 | g.4862815A>T | CA356138416 | MSX1 | c.584A>T (p.Gln195Leu) n.296A>T | |
| 4 | g.4862816G>A | CA438366040 | MSX1 | c.585G>A (p.Gln195=) n.297G>A | |
| 4 | g.4862816G>C | CA356138417 | MSX1 | c.585G>C (p.Gln195His) n.297G>C | |
| 4 | g.4862816G>T | CA356138418 | MSX1 | c.585G>T (p.Gln195His) n.297G>T | |
| 4 | g.4862817T>A | CA356138419 | MSX1 | c.586T>A (p.Tyr196Asn) n.298T>A | |
| 4 | g.4862817T>C | CA356138420 | MSX1 | c.586T>C (p.Tyr196His) n.298T>C | |
| 4 | g.4862817T>G | CA356138421 | MSX1 | c.586T>G (p.Tyr196Asp) n.298T>G | |
| 4 | g.4862818A>C | CA356138422 | MSX1 | c.587A>C (p.Tyr196Ser) n.299A>C | |
| 4 | g.4862818A>G | CA356138423 | MSX1 | c.587A>G (p.Tyr196Cys) n.299A>G | |
| 4 | g.4862818A>T | CA356138424 | MSX1 | c.587A>T (p.Tyr196Phe) n.299A>T | |
| 4 | g.4862819C>A | CA356138425 | MSX1 | c.588C>A (p.Tyr196Ter) n.300C>A | |
| 4 | g.4862819C= | CA1435013665 | MSX1 | c.588C= (p.Tyr196=) n.300C= | |
| 4 | g.4862819C>G | CA356138426 | MSX1 | c.588C>G (p.Tyr196Ter) n.300C>G | |
| 4 | g.4862819C>T | CA438366044 | MSX1 | c.588C>T (p.Tyr196=) n.300C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862821_4862825dup | CA2586973673 | MSX1 | c.590_594dup (p.Ile199CysfsTer20) n.302_306dup | |
| 4 | g.4862820C>A | CA356138427 | MSX1 | c.589C>A (p.Leu197Met) n.301C>A | |
| 4 | g.4862820C>G | CA356138428 | MSX1 | c.589C>G (p.Leu197Val) n.301C>G | |
| 4 | g.4862820C>T | CA438366045 | MSX1 | c.589C>T (p.Leu197=) n.301C>T | |
| 4 | g.4862821T>A | CA356138429 | MSX1 | c.590T>A (p.Leu197Gln) n.302T>A | |
| 4 | g.4862821T>C | CA356138430 | MSX1 | c.590T>C (p.Leu197Pro) n.302T>C | |
| 4 | g.4862821T>G | CA356138431 | MSX1 | c.590T>G (p.Leu197Arg) n.302T>G | |
| 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 |