UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69948991T>C | CA2666480404 | MITF | c.715-60T>C (n.715-60T>C) c.712-60T>C (n.712-60T>C) n.937-60T>C c.688-60T>C (n.688-60T>C) c.763-60T>C (n.763-60T>C) c.442-60T>C (n.442-60T>C) c.760-60T>C (n.760-60T>C) c.439-60T>C (n.439-60T>C) c.607-60T>C (n.607-60T>C) c.*89-60T>C (n.*89-60T>C) c.274-60T>C (n.274-60T>C) c.595-60T>C (n.595-60T>C) | gnomAD v4 |
| 3 | g.69948992C>A | CA2666480405 | MITF | c.715-59C>A (n.715-59C>A) c.712-59C>A (n.712-59C>A) n.937-59C>A c.688-59C>A (n.688-59C>A) c.763-59C>A (n.763-59C>A) c.442-59C>A (n.442-59C>A) c.760-59C>A (n.760-59C>A) c.439-59C>A (n.439-59C>A) c.607-59C>A (n.607-59C>A) c.*89-59C>A (n.*89-59C>A) c.274-59C>A (n.274-59C>A) c.595-59C>A (n.595-59C>A) | gnomAD v4 |
| 3 | g.69948993T>G | CA2666480406 | MITF | c.715-58T>G (n.715-58T>G) c.712-58T>G (n.712-58T>G) n.937-58T>G c.688-58T>G (n.688-58T>G) c.763-58T>G (n.763-58T>G) c.442-58T>G (n.442-58T>G) c.760-58T>G (n.760-58T>G) c.439-58T>G (n.439-58T>G) c.607-58T>G (n.607-58T>G) c.*89-58T>G (n.*89-58T>G) c.274-58T>G (n.274-58T>G) c.595-58T>G (n.595-58T>G) | gnomAD v4 |
| 3 | g.69948994G>A | CA2577819573 | MITF | c.715-57G>A (n.715-57G>A) c.712-57G>A (n.712-57G>A) n.937-57G>A c.688-57G>A (n.688-57G>A) c.763-57G>A (n.763-57G>A) c.442-57G>A (n.442-57G>A) c.760-57G>A (n.760-57G>A) c.439-57G>A (n.439-57G>A) c.607-57G>A (n.607-57G>A) c.*89-57G>A (n.*89-57G>A) c.274-57G>A (n.274-57G>A) c.595-57G>A (n.595-57G>A) | |
| 3 | g.69948994G= | CA1373440538 | MITF | c.715-57G= (n.715-57G=) c.712-57G= (n.712-57G=) n.937-57G= c.688-57G= (n.688-57G=) c.763-57G= (n.763-57G=) c.442-57G= (n.442-57G=) c.760-57G= (n.760-57G=) c.439-57G= (n.439-57G=) c.607-57G= (n.607-57G=) c.*89-57G= (n.*89-57G=) c.274-57G= (n.274-57G=) c.595-57G= (n.595-57G=) | |
| 3 | g.69948994G>T | CA1373440540 | MITF | c.715-57G>T (n.715-57G>T) c.712-57G>T (n.712-57G>T) n.937-57G>T c.688-57G>T (n.688-57G>T) c.763-57G>T (n.763-57G>T) c.442-57G>T (n.442-57G>T) c.760-57G>T (n.760-57G>T) c.439-57G>T (n.439-57G>T) c.607-57G>T (n.607-57G>T) c.*89-57G>T (n.*89-57G>T) c.274-57G>T (n.274-57G>T) c.595-57G>T (n.595-57G>T) | dbSNP |
| 3 | g.69948995A>T | CA2666480411 | MITF | c.715-56A>T (n.715-56A>T) c.712-56A>T (n.712-56A>T) n.937-56A>T c.688-56A>T (n.688-56A>T) c.763-56A>T (n.763-56A>T) c.442-56A>T (n.442-56A>T) c.760-56A>T (n.760-56A>T) c.439-56A>T (n.439-56A>T) c.607-56A>T (n.607-56A>T) c.*89-56A>T (n.*89-56A>T) c.274-56A>T (n.274-56A>T) c.595-56A>T (n.595-56A>T) | gnomAD v4 |
| 3 | g.69949000dup | CA543812455 | MITF | c.715-51dup (n.715-51dup) c.712-51dup (n.712-51dup) n.937-51dup c.688-51dup (n.688-51dup) c.763-51dup (n.763-51dup) c.442-51dup (n.442-51dup) c.760-51dup (n.760-51dup) c.439-51dup (n.439-51dup) c.607-51dup (n.607-51dup) c.*89-51dup (n.*89-51dup) c.274-51dup (n.274-51dup) c.595-51dup (n.595-51dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.69948999A>G | CA2666480413 | MITF | c.715-52A>G (n.715-52A>G) c.712-52A>G (n.712-52A>G) n.937-52A>G c.688-52A>G (n.688-52A>G) c.763-52A>G (n.763-52A>G) c.442-52A>G (n.442-52A>G) c.760-52A>G (n.760-52A>G) c.439-52A>G (n.439-52A>G) c.607-52A>G (n.607-52A>G) c.*89-52A>G (n.*89-52A>G) c.274-52A>G (n.274-52A>G) c.595-52A>G (n.595-52A>G) | gnomAD v4 |
| 3 | g.69949000A= | CA1373440544 | MITF | c.715-51A= (n.715-51A=) c.712-51A= (n.712-51A=) n.937-51A= c.688-51A= (n.688-51A=) c.763-51A= (n.763-51A=) c.442-51A= (n.442-51A=) c.760-51A= (n.760-51A=) c.439-51A= (n.439-51A=) c.607-51A= (n.607-51A=) c.*89-51A= (n.*89-51A=) c.274-51A= (n.274-51A=) c.595-51A= (n.595-51A=) | |
| 3 | g.69949000A>C | CA543812456 | MITF | c.715-51A>C (n.715-51A>C) c.712-51A>C (n.712-51A>C) n.937-51A>C c.688-51A>C (n.688-51A>C) c.763-51A>C (n.763-51A>C) c.442-51A>C (n.442-51A>C) c.760-51A>C (n.760-51A>C) c.439-51A>C (n.439-51A>C) c.607-51A>C (n.607-51A>C) c.*89-51A>C (n.*89-51A>C) c.274-51A>C (n.274-51A>C) c.595-51A>C (n.595-51A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949000A>G | CA2666480415 | MITF | c.715-51A>G (n.715-51A>G) c.712-51A>G (n.712-51A>G) n.937-51A>G c.688-51A>G (n.688-51A>G) c.763-51A>G (n.763-51A>G) c.442-51A>G (n.442-51A>G) c.760-51A>G (n.760-51A>G) c.439-51A>G (n.439-51A>G) c.607-51A>G (n.607-51A>G) c.*89-51A>G (n.*89-51A>G) c.274-51A>G (n.274-51A>G) c.595-51A>G (n.595-51A>G) | gnomAD v4 |
| 3 | g.69949001C>A | CA2490467 | MITF | c.715-50C>A (n.715-50C>A) c.712-50C>A (n.712-50C>A) n.937-50C>A c.688-50C>A (n.688-50C>A) c.763-50C>A (n.763-50C>A) c.442-50C>A (n.442-50C>A) c.760-50C>A (n.760-50C>A) c.439-50C>A (n.439-50C>A) c.607-50C>A (n.607-50C>A) c.*89-50C>A (n.*89-50C>A) c.274-50C>A (n.274-50C>A) c.595-50C>A (n.595-50C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69949001C= | CA1373440548 | MITF | c.715-50C= (n.715-50C=) c.712-50C= (n.712-50C=) n.937-50C= c.688-50C= (n.688-50C=) c.763-50C= (n.763-50C=) c.442-50C= (n.442-50C=) c.760-50C= (n.760-50C=) c.439-50C= (n.439-50C=) c.607-50C= (n.607-50C=) c.*89-50C= (n.*89-50C=) c.274-50C= (n.274-50C=) c.595-50C= (n.595-50C=) | |
| 3 | g.69949002A= | CA1373440551 | MITF | c.715-49A= (n.715-49A=) c.712-49A= (n.712-49A=) n.937-49A= c.688-49A= (n.688-49A=) c.763-49A= (n.763-49A=) c.442-49A= (n.442-49A=) c.760-49A= (n.760-49A=) c.439-49A= (n.439-49A=) c.607-49A= (n.607-49A=) c.*89-49A= (n.*89-49A=) c.274-49A= (n.274-49A=) c.595-49A= (n.595-49A=) | |
| 3 | g.69949002A>C | CA77001729 | MITF | c.715-49A>C (n.715-49A>C) c.712-49A>C (n.712-49A>C) n.937-49A>C c.688-49A>C (n.688-49A>C) c.763-49A>C (n.763-49A>C) c.442-49A>C (n.442-49A>C) c.760-49A>C (n.760-49A>C) c.439-49A>C (n.439-49A>C) c.607-49A>C (n.607-49A>C) c.*89-49A>C (n.*89-49A>C) c.274-49A>C (n.274-49A>C) c.595-49A>C (n.595-49A>C) | dbSNP |
| 3 | g.69949002A>G | CA77001730 | MITF | c.715-49A>G (n.715-49A>G) c.712-49A>G (n.712-49A>G) n.937-49A>G c.688-49A>G (n.688-49A>G) c.763-49A>G (n.763-49A>G) c.442-49A>G (n.442-49A>G) c.760-49A>G (n.760-49A>G) c.439-49A>G (n.439-49A>G) c.607-49A>G (n.607-49A>G) c.*89-49A>G (n.*89-49A>G) c.274-49A>G (n.274-49A>G) c.595-49A>G (n.595-49A>G) | dbSNP gnomAD v4 |
| 3 | g.69949002A>T | CA2666480421 | MITF | c.715-49A>T (n.715-49A>T) c.712-49A>T (n.712-49A>T) n.937-49A>T c.688-49A>T (n.688-49A>T) c.763-49A>T (n.763-49A>T) c.442-49A>T (n.442-49A>T) c.760-49A>T (n.760-49A>T) c.439-49A>T (n.439-49A>T) c.607-49A>T (n.607-49A>T) c.*89-49A>T (n.*89-49A>T) c.274-49A>T (n.274-49A>T) c.595-49A>T (n.595-49A>T) | gnomAD v4 |
| 3 | g.69949003T>C | CA77001731 | MITF | c.715-48T>C (n.715-48T>C) c.712-48T>C (n.712-48T>C) n.937-48T>C c.688-48T>C (n.688-48T>C) c.763-48T>C (n.763-48T>C) c.442-48T>C (n.442-48T>C) c.760-48T>C (n.760-48T>C) c.439-48T>C (n.439-48T>C) c.607-48T>C (n.607-48T>C) c.*89-48T>C (n.*89-48T>C) c.274-48T>C (n.274-48T>C) c.595-48T>C (n.595-48T>C) | dbSNP |
| 3 | g.69949003T= | CA1373440552 | MITF | c.715-48T= (n.715-48T=) c.712-48T= (n.712-48T=) n.937-48T= c.688-48T= (n.688-48T=) c.763-48T= (n.763-48T=) c.442-48T= (n.442-48T=) c.760-48T= (n.760-48T=) c.439-48T= (n.439-48T=) c.607-48T= (n.607-48T=) c.*89-48T= (n.*89-48T=) c.274-48T= (n.274-48T=) c.595-48T= (n.595-48T=) | |
| 3 | g.69949004G>A | CA2666480423 | MITF | c.715-47G>A (n.715-47G>A) c.712-47G>A (n.712-47G>A) n.937-47G>A c.688-47G>A (n.688-47G>A) c.763-47G>A (n.763-47G>A) c.442-47G>A (n.442-47G>A) c.760-47G>A (n.760-47G>A) c.439-47G>A (n.439-47G>A) c.607-47G>A (n.607-47G>A) c.*89-47G>A (n.*89-47G>A) c.274-47G>A (n.274-47G>A) c.595-47G>A (n.595-47G>A) | gnomAD v4 |
| 3 | g.69949005G>A | CA2666480425 | MITF | c.715-46G>A (n.715-46G>A) c.712-46G>A (n.712-46G>A) n.937-46G>A c.688-46G>A (n.688-46G>A) c.763-46G>A (n.763-46G>A) c.442-46G>A (n.442-46G>A) c.760-46G>A (n.760-46G>A) c.439-46G>A (n.439-46G>A) c.607-46G>A (n.607-46G>A) c.*89-46G>A (n.*89-46G>A) c.274-46G>A (n.274-46G>A) c.595-46G>A (n.595-46G>A) | dbSNP gnomAD v4 |
| 3 | g.69949006G>A | CA2490468 | MITF | c.715-45G>A (n.715-45G>A) c.712-45G>A (n.712-45G>A) n.937-45G>A c.688-45G>A (n.688-45G>A) c.763-45G>A (n.763-45G>A) c.442-45G>A (n.442-45G>A) c.760-45G>A (n.760-45G>A) c.439-45G>A (n.439-45G>A) c.607-45G>A (n.607-45G>A) c.*89-45G>A (n.*89-45G>A) c.274-45G>A (n.274-45G>A) c.595-45G>A (n.595-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69949006G= | CA1373440555 | MITF | c.715-45G= (n.715-45G=) c.712-45G= (n.712-45G=) n.937-45G= c.688-45G= (n.688-45G=) c.763-45G= (n.763-45G=) c.442-45G= (n.442-45G=) c.760-45G= (n.760-45G=) c.439-45G= (n.439-45G=) c.607-45G= (n.607-45G=) c.*89-45G= (n.*89-45G=) c.274-45G= (n.274-45G=) c.595-45G= (n.595-45G=) | |
| 3 | g.69949006G>T | CA1373440556 | MITF | c.715-45G>T (n.715-45G>T) c.712-45G>T (n.712-45G>T) n.937-45G>T c.688-45G>T (n.688-45G>T) c.763-45G>T (n.763-45G>T) c.442-45G>T (n.442-45G>T) c.760-45G>T (n.760-45G>T) c.439-45G>T (n.439-45G>T) c.607-45G>T (n.607-45G>T) c.*89-45G>T (n.*89-45G>T) c.274-45G>T (n.274-45G>T) c.595-45G>T (n.595-45G>T) | dbSNP |
| 3 | g.69949008A>G | CA2666480427 | MITF | c.715-43A>G (n.715-43A>G) c.712-43A>G (n.712-43A>G) n.937-43A>G c.688-43A>G (n.688-43A>G) c.763-43A>G (n.763-43A>G) c.442-43A>G (n.442-43A>G) c.760-43A>G (n.760-43A>G) c.439-43A>G (n.439-43A>G) c.607-43A>G (n.607-43A>G) c.*89-43A>G (n.*89-43A>G) c.274-43A>G (n.274-43A>G) c.595-43A>G (n.595-43A>G) | gnomAD v4 |
| 3 | g.69949009T>C | CA2577819575 | MITF | c.715-42T>C (n.715-42T>C) c.712-42T>C (n.712-42T>C) n.937-42T>C c.688-42T>C (n.688-42T>C) c.763-42T>C (n.763-42T>C) c.442-42T>C (n.442-42T>C) c.760-42T>C (n.760-42T>C) c.439-42T>C (n.439-42T>C) c.607-42T>C (n.607-42T>C) c.*89-42T>C (n.*89-42T>C) c.274-42T>C (n.274-42T>C) c.595-42T>C (n.595-42T>C) | gnomAD v4 |
| 3 | g.69949010T>C | CA2703185411 | MITF | c.715-41T>C (n.715-41T>C) c.712-41T>C (n.712-41T>C) n.937-41T>C c.688-41T>C (n.688-41T>C) c.763-41T>C (n.763-41T>C) c.442-41T>C (n.442-41T>C) c.760-41T>C (n.760-41T>C) c.439-41T>C (n.439-41T>C) c.607-41T>C (n.607-41T>C) c.*89-41T>C (n.*89-41T>C) c.274-41T>C (n.274-41T>C) c.595-41T>C (n.595-41T>C) | dbSNP |
| 3 | g.69949011G>A | CA2702840813 | MITF | c.715-40G>A (n.715-40G>A) c.712-40G>A (n.712-40G>A) n.937-40G>A c.688-40G>A (n.688-40G>A) c.763-40G>A (n.763-40G>A) c.442-40G>A (n.442-40G>A) c.760-40G>A (n.760-40G>A) c.439-40G>A (n.439-40G>A) c.607-40G>A (n.607-40G>A) c.*89-40G>A (n.*89-40G>A) c.274-40G>A (n.274-40G>A) c.595-40G>A (n.595-40G>A) | dbSNP |
| 3 | g.69949011G>C | CA2490469 | MITF | c.715-40G>C (n.715-40G>C) c.712-40G>C (n.712-40G>C) n.937-40G>C c.688-40G>C (n.688-40G>C) c.763-40G>C (n.763-40G>C) c.442-40G>C (n.442-40G>C) c.760-40G>C (n.760-40G>C) c.439-40G>C (n.439-40G>C) c.607-40G>C (n.607-40G>C) c.*89-40G>C (n.*89-40G>C) c.274-40G>C (n.274-40G>C) c.595-40G>C (n.595-40G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69949011G= | CA1373440559 | MITF | c.715-40G= (n.715-40G=) c.712-40G= (n.712-40G=) n.937-40G= c.688-40G= (n.688-40G=) c.763-40G= (n.763-40G=) c.442-40G= (n.442-40G=) c.760-40G= (n.760-40G=) c.439-40G= (n.439-40G=) c.607-40G= (n.607-40G=) c.*89-40G= (n.*89-40G=) c.274-40G= (n.274-40G=) c.595-40G= (n.595-40G=) | |
| 3 | g.69949011G>T | CA909886834 | MITF | c.715-40G>T (n.715-40G>T) c.712-40G>T (n.712-40G>T) n.937-40G>T c.688-40G>T (n.688-40G>T) c.763-40G>T (n.763-40G>T) c.442-40G>T (n.442-40G>T) c.760-40G>T (n.760-40G>T) c.439-40G>T (n.439-40G>T) c.607-40G>T (n.607-40G>T) c.*89-40G>T (n.*89-40G>T) c.274-40G>T (n.274-40G>T) c.595-40G>T (n.595-40G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69949012T>C | CA2666480428 | MITF | c.715-39T>C (n.715-39T>C) c.712-39T>C (n.712-39T>C) n.937-39T>C c.688-39T>C (n.688-39T>C) c.763-39T>C (n.763-39T>C) c.442-39T>C (n.442-39T>C) c.760-39T>C (n.760-39T>C) c.439-39T>C (n.439-39T>C) c.607-39T>C (n.607-39T>C) c.*89-39T>C (n.*89-39T>C) c.274-39T>C (n.274-39T>C) c.595-39T>C (n.595-39T>C) | gnomAD v4 |
| 3 | g.69949013_69949016delinsTCAA | CA1373440561 | MITF | c.715-38_715-35delinsTCAA (n.715-38_715-35delinsTCAA) c.712-38_712-35delinsTCAA (n.712-38_712-35delinsTCAA) n.937-38_937-35delinsTCAA c.688-38_688-35delinsTCAA (n.688-38_688-35delinsTCAA) c.763-38_763-35delinsTCAA (n.763-38_763-35delinsTCAA) c.442-38_442-35delinsTCAA (n.442-38_442-35delinsTCAA) c.760-38_760-35delinsTCAA (n.760-38_760-35delinsTCAA) c.439-38_439-35delinsTCAA (n.439-38_439-35delinsTCAA) c.607-38_607-35delinsTCAA (n.607-38_607-35delinsTCAA) c.*89-38_*89-35delinsTCAA (n.*89-38_*89-35delinsTCAA) c.274-38_274-35delinsTCAA (n.274-38_274-35delinsTCAA) c.595-38_595-35delinsTCAA (n.595-38_595-35delinsTCAA) | |
| 3 | g.69949014C>A | CA1373440564 | MITF | c.715-37C>A (n.715-37C>A) c.712-37C>A (n.712-37C>A) n.937-37C>A c.688-37C>A (n.688-37C>A) c.763-37C>A (n.763-37C>A) c.442-37C>A (n.442-37C>A) c.760-37C>A (n.760-37C>A) c.439-37C>A (n.439-37C>A) c.607-37C>A (n.607-37C>A) c.*89-37C>A (n.*89-37C>A) c.274-37C>A (n.274-37C>A) c.595-37C>A (n.595-37C>A) | dbSNP gnomAD v4 |
| 3 | g.69949014C= | CA1373440563 | MITF | c.715-37C= (n.715-37C=) c.712-37C= (n.712-37C=) n.937-37C= c.688-37C= (n.688-37C=) c.763-37C= (n.763-37C=) c.442-37C= (n.442-37C=) c.760-37C= (n.760-37C=) c.439-37C= (n.439-37C=) c.607-37C= (n.607-37C=) c.*89-37C= (n.*89-37C=) c.274-37C= (n.274-37C=) c.595-37C= (n.595-37C=) | |
| 3 | g.69949014C>T | CA77001732 | MITF | c.715-37C>T (n.715-37C>T) c.712-37C>T (n.712-37C>T) n.937-37C>T c.688-37C>T (n.688-37C>T) c.763-37C>T (n.763-37C>T) c.442-37C>T (n.442-37C>T) c.760-37C>T (n.760-37C>T) c.439-37C>T (n.439-37C>T) c.607-37C>T (n.607-37C>T) c.*89-37C>T (n.*89-37C>T) c.274-37C>T (n.274-37C>T) c.595-37C>T (n.595-37C>T) | dbSNP gnomAD v4 |
| 3 | g.69949016_69949018del | CA543812459 | MITF | c.715-35_715-33del (n.715-35_715-33del) c.712-35_712-33del (n.712-35_712-33del) n.937-35_937-33del c.688-35_688-33del (n.688-35_688-33del) c.763-35_763-33del (n.763-35_763-33del) c.442-35_442-33del (n.442-35_442-33del) c.760-35_760-33del (n.760-35_760-33del) c.439-35_439-33del (n.439-35_439-33del) c.607-35_607-33del (n.607-35_607-33del) c.*89-35_*89-33del (n.*89-35_*89-33del) c.274-35_274-33del (n.274-35_274-33del) c.595-35_595-33del (n.595-35_595-33del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949016A= | CA1373440568 | MITF | c.715-35A= (n.715-35A=) c.712-35A= (n.712-35A=) n.937-35A= c.688-35A= (n.688-35A=) c.763-35A= (n.763-35A=) c.442-35A= (n.442-35A=) c.760-35A= (n.760-35A=) c.439-35A= (n.439-35A=) c.607-35A= (n.607-35A=) c.*89-35A= (n.*89-35A=) c.274-35A= (n.274-35A=) c.595-35A= (n.595-35A=) | |
| 3 | g.69949016A>G | CA543812461 | MITF | c.715-35A>G (n.715-35A>G) c.712-35A>G (n.712-35A>G) n.937-35A>G c.688-35A>G (n.688-35A>G) c.763-35A>G (n.763-35A>G) c.442-35A>G (n.442-35A>G) c.760-35A>G (n.760-35A>G) c.439-35A>G (n.439-35A>G) c.607-35A>G (n.607-35A>G) c.*89-35A>G (n.*89-35A>G) c.274-35A>G (n.274-35A>G) c.595-35A>G (n.595-35A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949017C>T | CA2666480430 | MITF | c.715-34C>T (n.715-34C>T) c.712-34C>T (n.712-34C>T) n.937-34C>T c.688-34C>T (n.688-34C>T) c.763-34C>T (n.763-34C>T) c.442-34C>T (n.442-34C>T) c.760-34C>T (n.760-34C>T) c.439-34C>T (n.439-34C>T) c.607-34C>T (n.607-34C>T) c.*89-34C>T (n.*89-34C>T) c.274-34C>T (n.274-34C>T) c.595-34C>T (n.595-34C>T) | gnomAD v4 |
| 3 | g.69949019G= | CA1373440571 | MITF | c.715-32G= (n.715-32G=) c.712-32G= (n.712-32G=) n.937-32G= c.688-32G= (n.688-32G=) c.763-32G= (n.763-32G=) c.442-32G= (n.442-32G=) c.760-32G= (n.760-32G=) c.439-32G= (n.439-32G=) c.607-32G= (n.607-32G=) c.*89-32G= (n.*89-32G=) c.274-32G= (n.274-32G=) c.595-32G= (n.595-32G=) | |
| 3 | g.69949019G>T | CA2490470 | MITF | c.715-32G>T (n.715-32G>T) c.712-32G>T (n.712-32G>T) n.937-32G>T c.688-32G>T (n.688-32G>T) c.763-32G>T (n.763-32G>T) c.442-32G>T (n.442-32G>T) c.760-32G>T (n.760-32G>T) c.439-32G>T (n.439-32G>T) c.607-32G>T (n.607-32G>T) c.*89-32G>T (n.*89-32G>T) c.274-32G>T (n.274-32G>T) c.595-32G>T (n.595-32G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69949021T>A | CA2666480431 | MITF | c.715-30T>A (n.715-30T>A) c.712-30T>A (n.712-30T>A) n.937-30T>A c.688-30T>A (n.688-30T>A) c.763-30T>A (n.763-30T>A) c.442-30T>A (n.442-30T>A) c.760-30T>A (n.760-30T>A) c.439-30T>A (n.439-30T>A) c.607-30T>A (n.607-30T>A) c.*89-30T>A (n.*89-30T>A) c.274-30T>A (n.274-30T>A) c.595-30T>A (n.595-30T>A) | gnomAD v4 |
| 3 | g.69949021T>C | CA2666480432 | MITF | c.715-30T>C (n.715-30T>C) c.712-30T>C (n.712-30T>C) n.937-30T>C c.688-30T>C (n.688-30T>C) c.763-30T>C (n.763-30T>C) c.442-30T>C (n.442-30T>C) c.760-30T>C (n.760-30T>C) c.439-30T>C (n.439-30T>C) c.607-30T>C (n.607-30T>C) c.*89-30T>C (n.*89-30T>C) c.274-30T>C (n.274-30T>C) c.595-30T>C (n.595-30T>C) | gnomAD v4 |
| 3 | g.69949022A= | CA1373440574 | MITF | c.715-29A= (n.715-29A=) c.712-29A= (n.712-29A=) n.937-29A= c.688-29A= (n.688-29A=) c.763-29A= (n.763-29A=) c.442-29A= (n.442-29A=) c.760-29A= (n.760-29A=) c.439-29A= (n.439-29A=) c.607-29A= (n.607-29A=) c.*89-29A= (n.*89-29A=) c.274-29A= (n.274-29A=) c.595-29A= (n.595-29A=) | |
| 3 | g.69949022A>G | CA909886844 | MITF | c.715-29A>G (n.715-29A>G) c.712-29A>G (n.712-29A>G) n.937-29A>G c.688-29A>G (n.688-29A>G) c.763-29A>G (n.763-29A>G) c.442-29A>G (n.442-29A>G) c.760-29A>G (n.760-29A>G) c.439-29A>G (n.439-29A>G) c.607-29A>G (n.607-29A>G) c.*89-29A>G (n.*89-29A>G) c.274-29A>G (n.274-29A>G) c.595-29A>G (n.595-29A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69949022A>T | CA2666480433 | MITF | c.715-29A>T (n.715-29A>T) c.712-29A>T (n.712-29A>T) n.937-29A>T c.688-29A>T (n.688-29A>T) c.763-29A>T (n.763-29A>T) c.442-29A>T (n.442-29A>T) c.760-29A>T (n.760-29A>T) c.439-29A>T (n.439-29A>T) c.607-29A>T (n.607-29A>T) c.*89-29A>T (n.*89-29A>T) c.274-29A>T (n.274-29A>T) c.595-29A>T (n.595-29A>T) | gnomAD v4 |
| 3 | g.69949023A>T | CA2577819576 | MITF | c.715-28A>T (n.715-28A>T) c.712-28A>T (n.712-28A>T) n.937-28A>T c.688-28A>T (n.688-28A>T) c.763-28A>T (n.763-28A>T) c.442-28A>T (n.442-28A>T) c.760-28A>T (n.760-28A>T) c.439-28A>T (n.439-28A>T) c.607-28A>T (n.607-28A>T) c.*89-28A>T (n.*89-28A>T) c.274-28A>T (n.274-28A>T) c.595-28A>T (n.595-28A>T) | gnomAD v4 |
| 3 | g.69949024T>A | CA543812462 | MITF | c.715-27T>A (n.715-27T>A) c.712-27T>A (n.712-27T>A) n.937-27T>A c.688-27T>A (n.688-27T>A) c.763-27T>A (n.763-27T>A) c.442-27T>A (n.442-27T>A) c.760-27T>A (n.760-27T>A) c.439-27T>A (n.439-27T>A) c.607-27T>A (n.607-27T>A) c.*89-27T>A (n.*89-27T>A) c.274-27T>A (n.274-27T>A) c.595-27T>A (n.595-27T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949024T>C | CA543812463 | MITF | c.715-27T>C (n.715-27T>C) c.712-27T>C (n.712-27T>C) n.937-27T>C c.688-27T>C (n.688-27T>C) c.763-27T>C (n.763-27T>C) c.442-27T>C (n.442-27T>C) c.760-27T>C (n.760-27T>C) c.439-27T>C (n.439-27T>C) c.607-27T>C (n.607-27T>C) c.*89-27T>C (n.*89-27T>C) c.274-27T>C (n.274-27T>C) c.595-27T>C (n.595-27T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949024T>G | CA2666480434 | MITF | c.715-27T>G (n.715-27T>G) c.712-27T>G (n.712-27T>G) n.937-27T>G c.688-27T>G (n.688-27T>G) c.763-27T>G (n.763-27T>G) c.442-27T>G (n.442-27T>G) c.760-27T>G (n.760-27T>G) c.439-27T>G (n.439-27T>G) c.607-27T>G (n.607-27T>G) c.*89-27T>G (n.*89-27T>G) c.274-27T>G (n.274-27T>G) c.595-27T>G (n.595-27T>G) | gnomAD v4 |
| 3 | g.69949024T= | CA1373440577 | MITF | c.715-27T= (n.715-27T=) c.712-27T= (n.712-27T=) n.937-27T= c.688-27T= (n.688-27T=) c.763-27T= (n.763-27T=) c.442-27T= (n.442-27T=) c.760-27T= (n.760-27T=) c.439-27T= (n.439-27T=) c.607-27T= (n.607-27T=) c.*89-27T= (n.*89-27T=) c.274-27T= (n.274-27T=) c.595-27T= (n.595-27T=) | |
| 3 | g.69949027C>A | CA2666480435 | MITF | c.715-24C>A (n.715-24C>A) c.712-24C>A (n.712-24C>A) n.937-24C>A c.688-24C>A (n.688-24C>A) c.763-24C>A (n.763-24C>A) c.442-24C>A (n.442-24C>A) c.760-24C>A (n.760-24C>A) c.439-24C>A (n.439-24C>A) c.607-24C>A (n.607-24C>A) c.*89-24C>A (n.*89-24C>A) c.274-24C>A (n.274-24C>A) c.595-24C>A (n.595-24C>A) | gnomAD v4 |
| 3 | g.69949028T>G | CA1373440580 | MITF | c.715-23T>G (n.715-23T>G) c.712-23T>G (n.712-23T>G) n.937-23T>G c.688-23T>G (n.688-23T>G) c.763-23T>G (n.763-23T>G) c.442-23T>G (n.442-23T>G) c.760-23T>G (n.760-23T>G) c.439-23T>G (n.439-23T>G) c.607-23T>G (n.607-23T>G) c.*89-23T>G (n.*89-23T>G) c.274-23T>G (n.274-23T>G) c.595-23T>G (n.595-23T>G) | dbSNP gnomAD v4 |
| 3 | g.69949028T= | CA1373440579 | MITF | c.715-23T= (n.715-23T=) c.712-23T= (n.712-23T=) n.937-23T= c.688-23T= (n.688-23T=) c.763-23T= (n.763-23T=) c.442-23T= (n.442-23T=) c.760-23T= (n.760-23T=) c.439-23T= (n.439-23T=) c.607-23T= (n.607-23T=) c.*89-23T= (n.*89-23T=) c.274-23T= (n.274-23T=) c.595-23T= (n.595-23T=) | |
| 3 | g.69949029G>A | CA543812467 | MITF | c.715-22G>A (n.715-22G>A) c.712-22G>A (n.712-22G>A) n.937-22G>A c.688-22G>A (n.688-22G>A) c.763-22G>A (n.763-22G>A) c.442-22G>A (n.442-22G>A) c.760-22G>A (n.760-22G>A) c.439-22G>A (n.439-22G>A) c.607-22G>A (n.607-22G>A) c.*89-22G>A (n.*89-22G>A) c.274-22G>A (n.274-22G>A) c.595-22G>A (n.595-22G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949029G>C | CA543812465 | MITF | c.715-22G>C (n.715-22G>C) c.712-22G>C (n.712-22G>C) n.937-22G>C c.688-22G>C (n.688-22G>C) c.763-22G>C (n.763-22G>C) c.442-22G>C (n.442-22G>C) c.760-22G>C (n.760-22G>C) c.439-22G>C (n.439-22G>C) c.607-22G>C (n.607-22G>C) c.*89-22G>C (n.*89-22G>C) c.274-22G>C (n.274-22G>C) c.595-22G>C (n.595-22G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949029G= | CA1373440583 | MITF | c.715-22G= (n.715-22G=) c.712-22G= (n.712-22G=) n.937-22G= c.688-22G= (n.688-22G=) c.763-22G= (n.763-22G=) c.442-22G= (n.442-22G=) c.760-22G= (n.760-22G=) c.439-22G= (n.439-22G=) c.607-22G= (n.607-22G=) c.*89-22G= (n.*89-22G=) c.274-22G= (n.274-22G=) c.595-22G= (n.595-22G=) | |
| 3 | g.69949029G>T | CA2577819577 | MITF | c.715-22G>T (n.715-22G>T) c.712-22G>T (n.712-22G>T) n.937-22G>T c.688-22G>T (n.688-22G>T) c.763-22G>T (n.763-22G>T) c.442-22G>T (n.442-22G>T) c.760-22G>T (n.760-22G>T) c.439-22G>T (n.439-22G>T) c.607-22G>T (n.607-22G>T) c.*89-22G>T (n.*89-22G>T) c.274-22G>T (n.274-22G>T) c.595-22G>T (n.595-22G>T) | |
| 3 | g.69949032A>C | CA2577819578 | MITF | c.715-19A>C (n.715-19A>C) c.712-19A>C (n.712-19A>C) n.937-19A>C c.688-19A>C (n.688-19A>C) c.763-19A>C (n.763-19A>C) c.442-19A>C (n.442-19A>C) c.760-19A>C (n.760-19A>C) c.439-19A>C (n.439-19A>C) c.607-19A>C (n.607-19A>C) c.*89-19A>C (n.*89-19A>C) c.274-19A>C (n.274-19A>C) c.595-19A>C (n.595-19A>C) | ClinVar gnomAD v4 |
| 3 | g.69949032A>G | CA2666480436 | MITF | c.715-19A>G (n.715-19A>G) c.712-19A>G (n.712-19A>G) n.937-19A>G c.688-19A>G (n.688-19A>G) c.763-19A>G (n.763-19A>G) c.442-19A>G (n.442-19A>G) c.760-19A>G (n.760-19A>G) c.439-19A>G (n.439-19A>G) c.607-19A>G (n.607-19A>G) c.*89-19A>G (n.*89-19A>G) c.274-19A>G (n.274-19A>G) c.595-19A>G (n.595-19A>G) | gnomAD v4 |
| 3 | g.69949032A>T | CA2666480437 | MITF | c.715-19A>T (n.715-19A>T) c.712-19A>T (n.712-19A>T) n.937-19A>T c.688-19A>T (n.688-19A>T) c.763-19A>T (n.763-19A>T) c.442-19A>T (n.442-19A>T) c.760-19A>T (n.760-19A>T) c.439-19A>T (n.439-19A>T) c.607-19A>T (n.607-19A>T) c.*89-19A>T (n.*89-19A>T) c.274-19A>T (n.274-19A>T) c.595-19A>T (n.595-19A>T) | gnomAD v4 |
| 3 | g.69949033C>A | CA543812469 | MITF | c.715-18C>A (n.715-18C>A) c.712-18C>A (n.712-18C>A) n.937-18C>A c.688-18C>A (n.688-18C>A) c.763-18C>A (n.763-18C>A) c.442-18C>A (n.442-18C>A) c.760-18C>A (n.760-18C>A) c.439-18C>A (n.439-18C>A) c.607-18C>A (n.607-18C>A) c.*89-18C>A (n.*89-18C>A) c.274-18C>A (n.274-18C>A) c.595-18C>A (n.595-18C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949033C= | CA1373440585 | MITF | c.715-18C= (n.715-18C=) c.712-18C= (n.712-18C=) n.937-18C= c.688-18C= (n.688-18C=) c.763-18C= (n.763-18C=) c.442-18C= (n.442-18C=) c.760-18C= (n.760-18C=) c.439-18C= (n.439-18C=) c.607-18C= (n.607-18C=) c.*89-18C= (n.*89-18C=) c.274-18C= (n.274-18C=) c.595-18C= (n.595-18C=) | |
| 3 | g.69949034T>C | CA543812470 | MITF | c.715-17T>C (n.715-17T>C) c.712-17T>C (n.712-17T>C) n.937-17T>C c.688-17T>C (n.688-17T>C) c.763-17T>C (n.763-17T>C) c.442-17T>C (n.442-17T>C) c.760-17T>C (n.760-17T>C) c.439-17T>C (n.439-17T>C) c.607-17T>C (n.607-17T>C) c.*89-17T>C (n.*89-17T>C) c.274-17T>C (n.274-17T>C) c.595-17T>C (n.595-17T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949034T= | CA1373440587 | MITF | c.715-17T= (n.715-17T=) c.712-17T= (n.712-17T=) n.937-17T= c.688-17T= (n.688-17T=) c.763-17T= (n.763-17T=) c.442-17T= (n.442-17T=) c.760-17T= (n.760-17T=) c.439-17T= (n.439-17T=) c.607-17T= (n.607-17T=) c.*89-17T= (n.*89-17T=) c.274-17T= (n.274-17T=) c.595-17T= (n.595-17T=) | |
| 3 | g.69949035G>A | CA2490472 | MITF | c.715-16G>A (n.715-16G>A) c.712-16G>A (n.712-16G>A) n.937-16G>A c.688-16G>A (n.688-16G>A) c.763-16G>A (n.763-16G>A) c.442-16G>A (n.442-16G>A) c.760-16G>A (n.760-16G>A) c.439-16G>A (n.439-16G>A) c.607-16G>A (n.607-16G>A) c.*89-16G>A (n.*89-16G>A) c.274-16G>A (n.274-16G>A) c.595-16G>A (n.595-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69949035G>C | CA2490471 | MITF | c.715-16G>C (n.715-16G>C) c.712-16G>C (n.712-16G>C) n.937-16G>C c.688-16G>C (n.688-16G>C) c.763-16G>C (n.763-16G>C) c.442-16G>C (n.442-16G>C) c.760-16G>C (n.760-16G>C) c.439-16G>C (n.439-16G>C) c.607-16G>C (n.607-16G>C) c.*89-16G>C (n.*89-16G>C) c.274-16G>C (n.274-16G>C) c.595-16G>C (n.595-16G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69949035G= | CA1373440591 | MITF | c.715-16G= (n.715-16G=) c.712-16G= (n.712-16G=) n.937-16G= c.688-16G= (n.688-16G=) c.763-16G= (n.763-16G=) c.442-16G= (n.442-16G=) c.760-16G= (n.760-16G=) c.439-16G= (n.439-16G=) c.607-16G= (n.607-16G=) c.*89-16G= (n.*89-16G=) c.274-16G= (n.274-16G=) c.595-16G= (n.595-16G=) | |
| 3 | g.69949036T>C | CA77001733 | MITF | c.715-15T>C (n.715-15T>C) c.712-15T>C (n.712-15T>C) n.937-15T>C c.688-15T>C (n.688-15T>C) c.763-15T>C (n.763-15T>C) c.442-15T>C (n.442-15T>C) c.760-15T>C (n.760-15T>C) c.439-15T>C (n.439-15T>C) c.607-15T>C (n.607-15T>C) c.*89-15T>C (n.*89-15T>C) c.274-15T>C (n.274-15T>C) c.595-15T>C (n.595-15T>C) | dbSNP gnomAD v4 |
| 3 | g.69949036T= | CA1373440596 | MITF | c.715-15T= (n.715-15T=) c.712-15T= (n.712-15T=) n.937-15T= c.688-15T= (n.688-15T=) c.763-15T= (n.763-15T=) c.442-15T= (n.442-15T=) c.760-15T= (n.760-15T=) c.439-15T= (n.439-15T=) c.607-15T= (n.607-15T=) c.*89-15T= (n.*89-15T=) c.274-15T= (n.274-15T=) c.595-15T= (n.595-15T=) | |
| 3 | g.69949047_69949048del | CA2666480438 | MITF | c.715-4_715-3del (n.715-4_715-3del) c.712-4_712-3del (n.712-4_712-3del) n.937-4_937-3del c.688-4_688-3del (n.688-4_688-3del) c.763-4_763-3del (n.763-4_763-3del) c.442-4_442-3del (n.442-4_442-3del) c.760-4_760-3del (n.760-4_760-3del) c.439-4_439-3del (n.439-4_439-3del) c.607-4_607-3del (n.607-4_607-3del) c.*89-4_*89-3del (n.*89-4_*89-3del) c.274-4_274-3del (n.274-4_274-3del) c.595-4_595-3del (n.595-4_595-3del) | gnomAD v4 |
| 3 | g.69949041C>A | CA2666480439 | MITF | c.715-10C>A (n.715-10C>A) c.712-10C>A (n.712-10C>A) n.937-10C>A c.688-10C>A (n.688-10C>A) c.763-10C>A (n.763-10C>A) c.442-10C>A (n.442-10C>A) c.760-10C>A (n.760-10C>A) c.439-10C>A (n.439-10C>A) c.607-10C>A (n.607-10C>A) c.*89-10C>A (n.*89-10C>A) c.274-10C>A (n.274-10C>A) c.595-10C>A (n.595-10C>A) | gnomAD v4 |
| 3 | g.69949043C>A | CA2666480440 | MITF | c.715-8C>A (n.715-8C>A) c.712-8C>A (n.712-8C>A) n.937-8C>A c.688-8C>A (n.688-8C>A) c.763-8C>A (n.763-8C>A) c.442-8C>A (n.442-8C>A) c.760-8C>A (n.760-8C>A) c.439-8C>A (n.439-8C>A) c.607-8C>A (n.607-8C>A) c.*89-8C>A (n.*89-8C>A) c.274-8C>A (n.274-8C>A) c.595-8C>A (n.595-8C>A) | gnomAD v4 |
| 3 | g.69949043C>T | CA2577819579 | MITF | c.715-8C>T (n.715-8C>T) c.712-8C>T (n.712-8C>T) n.937-8C>T c.688-8C>T (n.688-8C>T) c.763-8C>T (n.763-8C>T) c.442-8C>T (n.442-8C>T) c.760-8C>T (n.760-8C>T) c.439-8C>T (n.439-8C>T) c.607-8C>T (n.607-8C>T) c.*89-8C>T (n.*89-8C>T) c.274-8C>T (n.274-8C>T) c.595-8C>T (n.595-8C>T) | |
| 3 | g.69949044T>C | CA2666480441 | MITF | c.715-7T>C (n.715-7T>C) c.712-7T>C (n.712-7T>C) n.937-7T>C c.688-7T>C (n.688-7T>C) c.763-7T>C (n.763-7T>C) c.442-7T>C (n.442-7T>C) c.760-7T>C (n.760-7T>C) c.439-7T>C (n.439-7T>C) c.607-7T>C (n.607-7T>C) c.*89-7T>C (n.*89-7T>C) c.274-7T>C (n.274-7T>C) c.595-7T>C (n.595-7T>C) | gnomAD v4 |
| 3 | g.69949045C>A | CA2666480442 | MITF | c.715-6C>A (n.715-6C>A) c.712-6C>A (n.712-6C>A) n.937-6C>A c.688-6C>A (n.688-6C>A) c.763-6C>A (n.763-6C>A) c.442-6C>A (n.442-6C>A) c.760-6C>A (n.760-6C>A) c.439-6C>A (n.439-6C>A) c.607-6C>A (n.607-6C>A) c.*89-6C>A (n.*89-6C>A) c.274-6C>A (n.274-6C>A) c.595-6C>A (n.595-6C>A) | gnomAD v4 |
| 3 | g.69949047del | CA2558293336 | MITF | c.715-4del (n.715-4del) c.712-4del (n.712-4del) n.937-4del c.688-4del (n.688-4del) c.763-4del (n.763-4del) c.442-4del (n.442-4del) c.760-4del (n.760-4del) c.439-4del (n.439-4del) c.607-4del (n.607-4del) c.*89-4del (n.*89-4del) c.274-4del (n.274-4del) c.595-4del (n.595-4del) | |
| 3 | g.69949047C>A | CA2666480443 | MITF | c.715-4C>A (n.715-4C>A) c.712-4C>A (n.712-4C>A) n.937-4C>A c.688-4C>A (n.688-4C>A) c.763-4C>A (n.763-4C>A) c.442-4C>A (n.442-4C>A) c.760-4C>A (n.760-4C>A) c.439-4C>A (n.439-4C>A) c.607-4C>A (n.607-4C>A) c.*89-4C>A (n.*89-4C>A) c.274-4C>A (n.274-4C>A) c.595-4C>A (n.595-4C>A) | gnomAD v4 |
| 3 | g.69949047C= | CA1373440598 | MITF | c.715-4C= (n.715-4C=) c.712-4C= (n.712-4C=) n.937-4C= c.688-4C= (n.688-4C=) c.763-4C= (n.763-4C=) c.442-4C= (n.442-4C=) c.760-4C= (n.760-4C=) c.439-4C= (n.439-4C=) c.607-4C= (n.607-4C=) c.*89-4C= (n.*89-4C=) c.274-4C= (n.274-4C=) c.595-4C= (n.595-4C=) | |
| 3 | g.69949047C>G | CA543812474 | MITF | c.715-4C>G (n.715-4C>G) c.712-4C>G (n.712-4C>G) n.937-4C>G c.688-4C>G (n.688-4C>G) c.763-4C>G (n.763-4C>G) c.442-4C>G (n.442-4C>G) c.760-4C>G (n.760-4C>G) c.439-4C>G (n.439-4C>G) c.607-4C>G (n.607-4C>G) c.*89-4C>G (n.*89-4C>G) c.274-4C>G (n.274-4C>G) c.595-4C>G (n.595-4C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949048T>C | CA1373440600 | MITF | c.715-3T>C (n.715-3T>C) c.712-3T>C (n.712-3T>C) n.937-3T>C c.688-3T>C (n.688-3T>C) c.763-3T>C (n.763-3T>C) c.442-3T>C (n.442-3T>C) c.760-3T>C (n.760-3T>C) c.439-3T>C (n.439-3T>C) c.607-3T>C (n.607-3T>C) c.*89-3T>C (n.*89-3T>C) c.274-3T>C (n.274-3T>C) c.595-3T>C (n.595-3T>C) | dbSNP |
| 3 | g.69949048T= | CA1373440599 | MITF | c.715-3T= (n.715-3T=) c.712-3T= (n.712-3T=) n.937-3T= c.688-3T= (n.688-3T=) c.763-3T= (n.763-3T=) c.442-3T= (n.442-3T=) c.760-3T= (n.760-3T=) c.439-3T= (n.439-3T=) c.607-3T= (n.607-3T=) c.*89-3T= (n.*89-3T=) c.274-3T= (n.274-3T=) c.595-3T= (n.595-3T=) | |
| 3 | g.69949049del | CA2545674719 | MITF | c.715-2del (n.715-2del) c.712-2del (n.712-2del) n.937-2del c.688-2del (n.688-2del) c.763-2del (n.763-2del) c.442-2del (n.442-2del) c.760-2del (n.760-2del) c.439-2del (n.439-2del) c.607-2del (n.607-2del) c.*89-2del (n.*89-2del) c.274-2del (n.274-2del) c.595-2del (n.595-2del) | |
| 3 | g.69949049A= | CA1373440604 | MITF | c.715-2A= (n.715-2A=) c.712-2A= (n.712-2A=) n.937-2A= c.688-2A= (n.688-2A=) c.763-2A= (n.763-2A=) c.442-2A= (n.442-2A=) c.760-2A= (n.760-2A=) c.439-2A= (n.439-2A=) c.607-2A= (n.607-2A=) c.*89-2A= (n.*89-2A=) c.274-2A= (n.274-2A=) c.595-2A= (n.595-2A=) | |
| 3 | g.69949049A>C | CA353561234 | MITF | c.715-2A>C (n.715-2A>C) c.712-2A>C (n.712-2A>C) n.937-2A>C c.688-2A>C (n.688-2A>C) c.763-2A>C (n.763-2A>C) c.442-2A>C (n.442-2A>C) c.760-2A>C (n.760-2A>C) c.439-2A>C (n.439-2A>C) c.607-2A>C (n.607-2A>C) c.*89-2A>C (n.*89-2A>C) c.274-2A>C (n.274-2A>C) c.595-2A>C (n.595-2A>C) | ClinVar dbSNP |
| 3 | g.69949049A>G | CA353561235 | MITF | c.715-2A>G (n.715-2A>G) c.712-2A>G (n.712-2A>G) n.937-2A>G c.688-2A>G (n.688-2A>G) c.763-2A>G (n.763-2A>G) c.442-2A>G (n.442-2A>G) c.760-2A>G (n.760-2A>G) c.439-2A>G (n.439-2A>G) c.607-2A>G (n.607-2A>G) c.*89-2A>G (n.*89-2A>G) c.274-2A>G (n.274-2A>G) c.595-2A>G (n.595-2A>G) | |
| 3 | g.69949049A>T | CA353561236 | MITF | c.715-2A>T (n.715-2A>T) c.712-2A>T (n.712-2A>T) n.937-2A>T c.688-2A>T (n.688-2A>T) c.763-2A>T (n.763-2A>T) c.442-2A>T (n.442-2A>T) c.760-2A>T (n.760-2A>T) c.439-2A>T (n.439-2A>T) c.607-2A>T (n.607-2A>T) c.*89-2A>T (n.*89-2A>T) c.274-2A>T (n.274-2A>T) c.595-2A>T (n.595-2A>T) | |
| 3 | g.69949050G>A | CA353561237 | MITF | c.715-1G>A (n.715-1G>A) c.712-1G>A (n.712-1G>A) n.937-1G>A c.688-1G>A (n.688-1G>A) c.763-1G>A (n.763-1G>A) c.442-1G>A (n.442-1G>A) c.760-1G>A (n.760-1G>A) c.439-1G>A (n.439-1G>A) c.607-1G>A (n.607-1G>A) c.*89-1G>A (n.*89-1G>A) c.274-1G>A (n.274-1G>A) c.595-1G>A (n.595-1G>A) | |
| 3 | g.69949050G>C | CA353561238 | MITF | c.715-1G>C (n.715-1G>C) c.712-1G>C (n.712-1G>C) n.937-1G>C c.688-1G>C (n.688-1G>C) c.763-1G>C (n.763-1G>C) c.442-1G>C (n.442-1G>C) c.760-1G>C (n.760-1G>C) c.439-1G>C (n.439-1G>C) c.607-1G>C (n.607-1G>C) c.*89-1G>C (n.*89-1G>C) c.274-1G>C (n.274-1G>C) c.595-1G>C (n.595-1G>C) | |
| 3 | g.69949050G>T | CA353561239 | MITF | c.715-1G>T (n.715-1G>T) c.712-1G>T (n.712-1G>T) n.937-1G>T c.688-1G>T (n.688-1G>T) c.763-1G>T (n.763-1G>T) c.442-1G>T (n.442-1G>T) c.760-1G>T (n.760-1G>T) c.439-1G>T (n.439-1G>T) c.607-1G>T (n.607-1G>T) c.*89-1G>T (n.*89-1G>T) c.274-1G>T (n.274-1G>T) c.595-1G>T (n.595-1G>T) | |
| 3 | g.69949051T>A | CA353561241 | MITF | c.715T>A (p.Leu239Met) c.712T>A (p.Leu238Met) n.937T>A c.688T>A (p.Leu230Met) c.763T>A (p.Leu255Met) c.442T>A (p.Leu148Met) c.760T>A (p.Leu254Met) c.439T>A (p.Leu147Met) c.607T>A (p.Leu203Met) c.*89T>A (n.*89T>A) c.274T>A (p.Leu92Met) c.595T>A (p.Leu199Met) | |
| 3 | g.69949051T>C | CA434305841 | MITF | c.715T>C (p.Leu239=) c.712T>C (p.Leu238=) n.937T>C c.688T>C (p.Leu230=) c.763T>C (p.Leu255=) c.442T>C (p.Leu148=) c.760T>C (p.Leu254=) c.439T>C (p.Leu147=) c.607T>C (p.Leu203=) c.*89T>C (n.*89T>C) c.274T>C (p.Leu92=) c.595T>C (p.Leu199=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69949051T>G | CA353561240 | MITF | c.715T>G (p.Leu239Val) c.712T>G (p.Leu238Val) n.937T>G c.688T>G (p.Leu230Val) c.763T>G (p.Leu255Val) c.442T>G (p.Leu148Val) c.760T>G (p.Leu254Val) c.439T>G (p.Leu147Val) c.607T>G (p.Leu203Val) c.*89T>G (n.*89T>G) c.274T>G (p.Leu92Val) c.595T>G (p.Leu199Val) | |
| 3 | g.69949051T= | CA1373440609 | MITF | c.715T= (p.Leu239=) c.712T= (p.Leu238=) n.937T= c.688T= (p.Leu230=) c.763T= (p.Leu255=) c.442T= (p.Leu148=) c.760T= (p.Leu254=) c.439T= (p.Leu147=) c.607T= (p.Leu203=) c.*89T= (n.*89T=) c.274T= (p.Leu92=) c.595T= (p.Leu199=) | |
| 3 | g.69949052T>A | CA353561242 | MITF | c.716T>A (p.Leu239Ter) c.713T>A (p.Leu238Ter) n.938T>A c.689T>A (p.Leu230Ter) c.764T>A (p.Leu255Ter) c.443T>A (p.Leu148Ter) c.761T>A (p.Leu254Ter) c.440T>A (p.Leu147Ter) c.608T>A (p.Leu203Ter) c.*90T>A (n.*90T>A) c.275T>A (p.Leu92Ter) c.596T>A (p.Leu199Ter) | ClinVar |
| 3 | g.69949052T>C | CA353561243 | MITF | c.716T>C (p.Leu239Ser) c.713T>C (p.Leu238Ser) n.938T>C c.689T>C (p.Leu230Ser) c.764T>C (p.Leu255Ser) c.443T>C (p.Leu148Ser) c.761T>C (p.Leu254Ser) c.440T>C (p.Leu147Ser) c.608T>C (p.Leu203Ser) c.*90T>C (n.*90T>C) c.275T>C (p.Leu92Ser) c.596T>C (p.Leu199Ser) | ClinVar |
| 3 | g.69949052T>G | CA353561244 | MITF | c.716T>G (p.Leu239Trp) c.713T>G (p.Leu238Trp) n.938T>G c.689T>G (p.Leu230Trp) c.764T>G (p.Leu255Trp) c.443T>G (p.Leu148Trp) c.761T>G (p.Leu254Trp) c.440T>G (p.Leu147Trp) c.608T>G (p.Leu203Trp) c.*90T>G (n.*90T>G) c.275T>G (p.Leu92Trp) c.596T>G (p.Leu199Trp) | |
| 3 | g.69949053G>A | CA434305842 | MITF | c.717G>A (p.Leu239=) c.714G>A (p.Leu238=) n.939G>A c.690G>A (p.Leu230=) c.765G>A (p.Leu255=) c.444G>A (p.Leu148=) c.762G>A (p.Leu254=) c.441G>A (p.Leu147=) c.609G>A (p.Leu203=) c.*91G>A (n.*91G>A) c.276G>A (p.Leu92=) c.597G>A (p.Leu199=) | |
| 3 | g.69949053G>C | CA353561245 | MITF | c.717G>C (p.Leu239Phe) c.714G>C (p.Leu238Phe) n.939G>C c.690G>C (p.Leu230Phe) c.765G>C (p.Leu255Phe) c.444G>C (p.Leu148Phe) c.762G>C (p.Leu254Phe) c.441G>C (p.Leu147Phe) c.609G>C (p.Leu203Phe) c.*91G>C (n.*91G>C) c.276G>C (p.Leu92Phe) c.597G>C (p.Leu199Phe) | |
| 3 | g.69949053G>T | CA353561246 | MITF | c.717G>T (p.Leu239Phe) c.714G>T (p.Leu238Phe) n.939G>T c.690G>T (p.Leu230Phe) c.765G>T (p.Leu255Phe) c.444G>T (p.Leu148Phe) c.762G>T (p.Leu254Phe) c.441G>T (p.Leu147Phe) c.609G>T (p.Leu203Phe) c.*91G>T (n.*91G>T) c.276G>T (p.Leu92Phe) c.597G>T (p.Leu199Phe) | |
| 3 | g.69949054C>A | CA77001734 | MITF | c.718C>A (p.Pro240Thr) c.715C>A (p.Pro239Thr) n.940C>A c.691C>A (p.Pro231Thr) c.766C>A (p.Pro256Thr) c.445C>A (p.Pro149Thr) c.763C>A (p.Pro255Thr) c.442C>A (p.Pro148Thr) c.610C>A (p.Pro204Thr) c.*92C>A (n.*92C>A) c.277C>A (p.Pro93Thr) c.598C>A (p.Pro200Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.69949054C= | CA1373440613 | MITF | c.718C= (p.Pro240=) c.715C= (p.Pro239=) n.940C= c.691C= (p.Pro231=) c.766C= (p.Pro256=) c.445C= (p.Pro149=) c.763C= (p.Pro255=) c.442C= (p.Pro148=) c.610C= (p.Pro204=) c.*92C= (n.*92C=) c.277C= (p.Pro93=) c.598C= (p.Pro200=) | |
| 3 | g.69949054C>G | CA353561247 | MITF | c.718C>G (p.Pro240Ala) c.715C>G (p.Pro239Ala) n.940C>G c.691C>G (p.Pro231Ala) c.766C>G (p.Pro256Ala) c.445C>G (p.Pro149Ala) c.763C>G (p.Pro255Ala) c.442C>G (p.Pro148Ala) c.610C>G (p.Pro204Ala) c.*92C>G (n.*92C>G) c.277C>G (p.Pro93Ala) c.598C>G (p.Pro200Ala) | |
| 3 | g.69949054C>T | CA353561248 | MITF | c.718C>T (p.Pro240Ser) c.715C>T (p.Pro239Ser) n.940C>T c.691C>T (p.Pro231Ser) c.766C>T (p.Pro256Ser) c.445C>T (p.Pro149Ser) c.763C>T (p.Pro255Ser) c.442C>T (p.Pro148Ser) c.610C>T (p.Pro204Ser) c.*92C>T (n.*92C>T) c.277C>T (p.Pro93Ser) c.598C>T (p.Pro200Ser) | COSMIC COSMIC |
| 3 | g.69949055C>A | CA353561249 | MITF | c.719C>A (p.Pro240His) c.716C>A (p.Pro239His) n.941C>A c.692C>A (p.Pro231His) c.767C>A (p.Pro256His) c.446C>A (p.Pro149His) c.764C>A (p.Pro255His) c.443C>A (p.Pro148His) c.611C>A (p.Pro204His) c.*93C>A (n.*93C>A) c.278C>A (p.Pro93His) c.599C>A (p.Pro200His) | |
| 3 | g.69949055C>G | CA353561251 | MITF | c.719C>G (p.Pro240Arg) c.716C>G (p.Pro239Arg) n.941C>G c.692C>G (p.Pro231Arg) c.767C>G (p.Pro256Arg) c.446C>G (p.Pro149Arg) c.764C>G (p.Pro255Arg) c.443C>G (p.Pro148Arg) c.611C>G (p.Pro204Arg) c.*93C>G (n.*93C>G) c.278C>G (p.Pro93Arg) c.599C>G (p.Pro200Arg) | |
| 3 | g.69949055C>T | CA353561250 | MITF | c.719C>T (p.Pro240Leu) c.716C>T (p.Pro239Leu) n.941C>T c.692C>T (p.Pro231Leu) c.767C>T (p.Pro256Leu) c.446C>T (p.Pro149Leu) c.764C>T (p.Pro255Leu) c.443C>T (p.Pro148Leu) c.611C>T (p.Pro204Leu) c.*93C>T (n.*93C>T) c.278C>T (p.Pro93Leu) c.599C>T (p.Pro200Leu) | dbSNP |
| 3 | g.69949056T>A | CA434305845 | MITF | c.720T>A (p.Pro240=) c.717T>A (p.Pro239=) n.942T>A c.693T>A (p.Pro231=) c.768T>A (p.Pro256=) c.447T>A (p.Pro149=) c.765T>A (p.Pro255=) c.444T>A (p.Pro148=) c.612T>A (p.Pro204=) c.*94T>A (n.*94T>A) c.279T>A (p.Pro93=) c.600T>A (p.Pro200=) | |
| 3 | g.69949056T>C | CA2490473 | MITF | c.720T>C (p.Pro240=) c.717T>C (p.Pro239=) n.942T>C c.693T>C (p.Pro231=) c.768T>C (p.Pro256=) c.447T>C (p.Pro149=) c.765T>C (p.Pro255=) c.444T>C (p.Pro148=) c.612T>C (p.Pro204=) c.*94T>C (n.*94T>C) c.279T>C (p.Pro93=) c.600T>C (p.Pro200=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69949056T>G | CA434305844 | MITF | c.720T>G (p.Pro240=) c.717T>G (p.Pro239=) n.942T>G c.693T>G (p.Pro231=) c.768T>G (p.Pro256=) c.447T>G (p.Pro149=) c.765T>G (p.Pro255=) c.444T>G (p.Pro148=) c.612T>G (p.Pro204=) c.*94T>G (n.*94T>G) c.279T>G (p.Pro93=) c.600T>G (p.Pro200=) | |
| 3 | g.69949056T= | CA1373440616 | MITF | c.720T= (p.Pro240=) c.717T= (p.Pro239=) n.942T= c.693T= (p.Pro231=) c.768T= (p.Pro256=) c.447T= (p.Pro149=) c.765T= (p.Pro255=) c.444T= (p.Pro148=) c.612T= (p.Pro204=) c.*94T= (n.*94T=) c.279T= (p.Pro93=) c.600T= (p.Pro200=) | |
| 3 | g.69949057G>A | CA77001735 | MITF | c.721G>A (p.Val241Ile) c.718G>A (p.Val240Ile) n.943G>A c.694G>A (p.Val232Ile) c.769G>A (p.Val257Ile) c.448G>A (p.Val150Ile) c.766G>A (p.Val256Ile) c.445G>A (p.Val149Ile) c.613G>A (p.Val205Ile) c.*95G>A (n.*95G>A) c.280G>A (p.Val94Ile) c.601G>A (p.Val201Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949057G>C | CA353561252 | MITF | c.721G>C (p.Val241Leu) c.718G>C (p.Val240Leu) n.943G>C c.694G>C (p.Val232Leu) c.769G>C (p.Val257Leu) c.448G>C (p.Val150Leu) c.766G>C (p.Val256Leu) c.445G>C (p.Val149Leu) c.613G>C (p.Val205Leu) c.*95G>C (n.*95G>C) c.280G>C (p.Val94Leu) c.601G>C (p.Val201Leu) | |
| 3 | g.69949057G= | CA1373440618 | MITF | c.721G= (p.Val241=) c.718G= (p.Val240=) n.943G= c.694G= (p.Val232=) c.769G= (p.Val257=) c.448G= (p.Val150=) c.766G= (p.Val256=) c.445G= (p.Val149=) c.613G= (p.Val205=) c.*95G= (n.*95G=) c.280G= (p.Val94=) c.601G= (p.Val201=) | |
| 3 | g.69949057G>T | CA353561253 | MITF | c.721G>T (p.Val241Phe) c.718G>T (p.Val240Phe) n.943G>T c.694G>T (p.Val232Phe) c.769G>T (p.Val257Phe) c.448G>T (p.Val150Phe) c.766G>T (p.Val256Phe) c.445G>T (p.Val149Phe) c.613G>T (p.Val205Phe) c.*95G>T (n.*95G>T) c.280G>T (p.Val94Phe) c.601G>T (p.Val201Phe) | |
| 3 | g.69949058T>A | CA353561254 | MITF | c.722T>A (p.Val241Asp) c.719T>A (p.Val240Asp) n.944T>A c.695T>A (p.Val232Asp) c.770T>A (p.Val257Asp) c.449T>A (p.Val150Asp) c.767T>A (p.Val256Asp) c.446T>A (p.Val149Asp) c.614T>A (p.Val205Asp) c.*96T>A (n.*96T>A) c.281T>A (p.Val94Asp) c.602T>A (p.Val201Asp) | ClinVar dbSNP |
| 3 | g.69949058T>C | CA353561256 | MITF | c.722T>C (p.Val241Ala) c.719T>C (p.Val240Ala) n.944T>C c.695T>C (p.Val232Ala) c.770T>C (p.Val257Ala) c.449T>C (p.Val150Ala) c.767T>C (p.Val256Ala) c.446T>C (p.Val149Ala) c.614T>C (p.Val205Ala) c.*96T>C (n.*96T>C) c.281T>C (p.Val94Ala) c.602T>C (p.Val201Ala) | |
| 3 | g.69949058T>G | CA353561255 | MITF | c.722T>G (p.Val241Gly) c.719T>G (p.Val240Gly) n.944T>G c.695T>G (p.Val232Gly) c.770T>G (p.Val257Gly) c.449T>G (p.Val150Gly) c.767T>G (p.Val256Gly) c.446T>G (p.Val149Gly) c.614T>G (p.Val205Gly) c.*96T>G (n.*96T>G) c.281T>G (p.Val94Gly) c.602T>G (p.Val201Gly) | |
| 3 | g.69949059C>A | CA434305846 | MITF | c.723C>A (p.Val241=) c.720C>A (p.Val240=) n.945C>A c.696C>A (p.Val232=) c.771C>A (p.Val257=) c.450C>A (p.Val150=) c.768C>A (p.Val256=) c.447C>A (p.Val149=) c.615C>A (p.Val205=) c.*97C>A (n.*97C>A) c.282C>A (p.Val94=) c.603C>A (p.Val201=) | |
| 3 | g.69949059C= | CA1373440621 | MITF | c.723C= (p.Val241=) c.720C= (p.Val240=) n.945C= c.696C= (p.Val232=) c.771C= (p.Val257=) c.450C= (p.Val150=) c.768C= (p.Val256=) c.447C= (p.Val149=) c.615C= (p.Val205=) c.*97C= (n.*97C=) c.282C= (p.Val94=) c.603C= (p.Val201=) | |
| 3 | g.69949059C>G | CA434305847 | MITF | c.723C>G (p.Val241=) c.720C>G (p.Val240=) n.945C>G c.696C>G (p.Val232=) c.771C>G (p.Val257=) c.450C>G (p.Val150=) c.768C>G (p.Val256=) c.447C>G (p.Val149=) c.615C>G (p.Val205=) c.*97C>G (n.*97C>G) c.282C>G (p.Val94=) c.603C>G (p.Val201=) | |
| 3 | g.69949059C>T | CA434305848 | MITF | c.723C>T (p.Val241=) c.720C>T (p.Val240=) n.945C>T c.696C>T (p.Val232=) c.771C>T (p.Val257=) c.450C>T (p.Val150=) c.768C>T (p.Val256=) c.447C>T (p.Val149=) c.615C>T (p.Val205=) c.*97C>T (n.*97C>T) c.282C>T (p.Val94=) c.603C>T (p.Val201=) | |
| 3 | g.69949060T>A | CA353561257 | MITF | c.724T>A (p.Ser242Thr) c.721T>A (p.Ser241Thr) n.946T>A c.697T>A (p.Ser233Thr) c.772T>A (p.Ser258Thr) c.451T>A (p.Ser151Thr) c.769T>A (p.Ser257Thr) c.448T>A (p.Ser150Thr) c.616T>A (p.Ser206Thr) c.*98T>A (n.*98T>A) c.283T>A (p.Ser95Thr) c.604T>A (p.Ser202Thr) | gnomAD v4 |
| 3 | g.69949060T>C | CA353561258 | MITF | c.724T>C (p.Ser242Pro) c.721T>C (p.Ser241Pro) n.946T>C c.697T>C (p.Ser233Pro) c.772T>C (p.Ser258Pro) c.451T>C (p.Ser151Pro) c.769T>C (p.Ser257Pro) c.448T>C (p.Ser150Pro) c.616T>C (p.Ser206Pro) c.*98T>C (n.*98T>C) c.283T>C (p.Ser95Pro) c.604T>C (p.Ser202Pro) | |
| 3 | g.69949060T>G | CA353561259 | MITF | c.724T>G (p.Ser242Ala) c.721T>G (p.Ser241Ala) n.946T>G c.697T>G (p.Ser233Ala) c.772T>G (p.Ser258Ala) c.451T>G (p.Ser151Ala) c.769T>G (p.Ser257Ala) c.448T>G (p.Ser150Ala) c.616T>G (p.Ser206Ala) c.*98T>G (n.*98T>G) c.283T>G (p.Ser95Ala) c.604T>G (p.Ser202Ala) | |
| 3 | g.69949061_69949073dup | CA658796342 | MITF | c.725_737dup (p.Asp247GlyfsTer5) c.722_734dup (p.Asp246GlyfsTer5) n.947_959dup c.698_710dup (p.Asp238GlyfsTer5) c.773_785dup (p.Asp263GlyfsTer5) c.452_464dup (p.Asp156GlyfsTer5) c.770_782dup (p.Asp262GlyfsTer5) c.449_461dup (p.Asp155GlyfsTer5) c.617_629dup (p.Asp211GlyfsTer5) c.*99_*111dup (n.*99_*111dup) c.284_296dup (p.Asp100GlyfsTer5) c.605_617dup (p.Asp207GlyfsTer5) | ClinVar dbSNP |
| 3 | g.69949061C>A | CA353561260 | MITF | c.725C>A (p.Ser242Ter) c.722C>A (p.Ser241Ter) n.947C>A c.698C>A (p.Ser233Ter) c.773C>A (p.Ser258Ter) c.452C>A (p.Ser151Ter) c.770C>A (p.Ser257Ter) c.449C>A (p.Ser150Ter) c.617C>A (p.Ser206Ter) c.*99C>A (n.*99C>A) c.284C>A (p.Ser95Ter) c.605C>A (p.Ser202Ter) | gnomAD v4 |
| 3 | g.69949061C= | CA1373440625 | MITF | c.725C= (p.Ser242=) c.722C= (p.Ser241=) n.947C= c.698C= (p.Ser233=) c.773C= (p.Ser258=) c.452C= (p.Ser151=) c.770C= (p.Ser257=) c.449C= (p.Ser150=) c.617C= (p.Ser206=) c.*99C= (n.*99C=) c.284C= (p.Ser95=) c.605C= (p.Ser202=) | |
| 3 | g.69949061C>G | CA353561261 | MITF | c.725C>G (p.Ser242Trp) c.722C>G (p.Ser241Trp) n.947C>G c.698C>G (p.Ser233Trp) c.773C>G (p.Ser258Trp) c.452C>G (p.Ser151Trp) c.770C>G (p.Ser257Trp) c.449C>G (p.Ser150Trp) c.617C>G (p.Ser206Trp) c.*99C>G (n.*99C>G) c.284C>G (p.Ser95Trp) c.605C>G (p.Ser202Trp) | |
| 3 | g.69949061C>T | CA2490474 | MITF | c.725C>T (p.Ser242Leu) c.722C>T (p.Ser241Leu) n.947C>T c.698C>T (p.Ser233Leu) c.773C>T (p.Ser258Leu) c.452C>T (p.Ser151Leu) c.770C>T (p.Ser257Leu) c.449C>T (p.Ser150Leu) c.617C>T (p.Ser206Leu) c.*99C>T (n.*99C>T) c.284C>T (p.Ser95Leu) c.605C>T (p.Ser202Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69949062G>A | CA77001736 | MITF | c.726G>A (p.Ser242=) c.723G>A (p.Ser241=) n.948G>A c.699G>A (p.Ser233=) c.774G>A (p.Ser258=) c.453G>A (p.Ser151=) c.771G>A (p.Ser257=) c.450G>A (p.Ser150=) c.618G>A (p.Ser206=) c.*100G>A (n.*100G>A) c.285G>A (p.Ser95=) c.606G>A (p.Ser202=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69949062G>C | CA434305849 | MITF | c.726G>C (p.Ser242=) c.723G>C (p.Ser241=) n.948G>C c.699G>C (p.Ser233=) c.774G>C (p.Ser258=) c.453G>C (p.Ser151=) c.771G>C (p.Ser257=) c.450G>C (p.Ser150=) c.618G>C (p.Ser206=) c.*100G>C (n.*100G>C) c.285G>C (p.Ser95=) c.606G>C (p.Ser202=) | |
| 3 | g.69949062G= | CA1373440629 | MITF | c.726G= (p.Ser242=) c.723G= (p.Ser241=) n.948G= c.699G= (p.Ser233=) c.774G= (p.Ser258=) c.453G= (p.Ser151=) c.771G= (p.Ser257=) c.450G= (p.Ser150=) c.618G= (p.Ser206=) c.*100G= (n.*100G=) c.285G= (p.Ser95=) c.606G= (p.Ser202=) | |
| 3 | g.69949062G>T | CA434305850 | MITF | c.726G>T (p.Ser242=) c.723G>T (p.Ser241=) n.948G>T c.699G>T (p.Ser233=) c.774G>T (p.Ser258=) c.453G>T (p.Ser151=) c.771G>T (p.Ser257=) c.450G>T (p.Ser150=) c.618G>T (p.Ser206=) c.*100G>T (n.*100G>T) c.285G>T (p.Ser95=) c.606G>T (p.Ser202=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69949063G>A | CA353561262 | MITF | c.727G>A (p.Gly243Arg) c.724G>A (p.Gly242Arg) n.949G>A c.700G>A (p.Gly234Arg) c.775G>A (p.Gly259Arg) c.454G>A (p.Gly152Arg) c.772G>A (p.Gly258Arg) c.451G>A (p.Gly151Arg) c.619G>A (p.Gly207Arg) c.*101G>A (n.*101G>A) c.286G>A (p.Gly96Arg) c.607G>A (p.Gly203Arg) | |
| 3 | g.69949063G>C | CA353561263 | MITF | c.727G>C (p.Gly243Arg) c.724G>C (p.Gly242Arg) n.949G>C c.700G>C (p.Gly234Arg) c.775G>C (p.Gly259Arg) c.454G>C (p.Gly152Arg) c.772G>C (p.Gly258Arg) c.451G>C (p.Gly151Arg) c.619G>C (p.Gly207Arg) c.*101G>C (n.*101G>C) c.286G>C (p.Gly96Arg) c.607G>C (p.Gly203Arg) | dbSNP |
| 3 | g.69949063G>T | CA353561264 | MITF | c.727G>T (p.Gly243Ter) c.724G>T (p.Gly242Ter) n.949G>T c.700G>T (p.Gly234Ter) c.775G>T (p.Gly259Ter) c.454G>T (p.Gly152Ter) c.772G>T (p.Gly258Ter) c.451G>T (p.Gly151Ter) c.619G>T (p.Gly207Ter) c.*101G>T (n.*101G>T) c.286G>T (p.Gly96Ter) c.607G>T (p.Gly203Ter) | |
| 3 | g.69949064G>A | CA353561265 | MITF | c.728G>A (p.Gly243Glu) c.725G>A (p.Gly242Glu) n.950G>A c.701G>A (p.Gly234Glu) c.776G>A (p.Gly259Glu) c.455G>A (p.Gly152Glu) c.773G>A (p.Gly258Glu) c.452G>A (p.Gly151Glu) c.620G>A (p.Gly207Glu) c.*102G>A (n.*102G>A) c.287G>A (p.Gly96Glu) c.608G>A (p.Gly203Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949064G>C | CA353561266 | MITF | c.728G>C (p.Gly243Ala) c.725G>C (p.Gly242Ala) n.950G>C c.701G>C (p.Gly234Ala) c.776G>C (p.Gly259Ala) c.455G>C (p.Gly152Ala) c.773G>C (p.Gly258Ala) c.452G>C (p.Gly151Ala) c.620G>C (p.Gly207Ala) c.*102G>C (n.*102G>C) c.287G>C (p.Gly96Ala) c.608G>C (p.Gly203Ala) | |
| 3 | g.69949064G= | CA1373440636 | MITF | c.728G= (p.Gly243=) c.725G= (p.Gly242=) n.950G= c.701G= (p.Gly234=) c.776G= (p.Gly259=) c.455G= (p.Gly152=) c.773G= (p.Gly258=) c.452G= (p.Gly151=) c.620G= (p.Gly207=) c.*102G= (n.*102G=) c.287G= (p.Gly96=) c.608G= (p.Gly203=) | |
| 3 | g.69949064G>T | CA353561267 | MITF | c.728G>T (p.Gly243Val) c.725G>T (p.Gly242Val) n.950G>T c.701G>T (p.Gly234Val) c.776G>T (p.Gly259Val) c.455G>T (p.Gly152Val) c.773G>T (p.Gly258Val) c.452G>T (p.Gly151Val) c.620G>T (p.Gly207Val) c.*102G>T (n.*102G>T) c.287G>T (p.Gly96Val) c.608G>T (p.Gly203Val) | |
| 3 | g.69949065A>C | CA434305851 | MITF | c.729A>C (p.Gly243=) c.726A>C (p.Gly242=) n.951A>C c.702A>C (p.Gly234=) c.777A>C (p.Gly259=) c.456A>C (p.Gly152=) c.774A>C (p.Gly258=) c.453A>C (p.Gly151=) c.621A>C (p.Gly207=) c.*103A>C (n.*103A>C) c.288A>C (p.Gly96=) c.609A>C (p.Gly203=) | |
| 3 | g.69949065A>G | CA434305852 | MITF | c.729A>G (p.Gly243=) c.726A>G (p.Gly242=) n.951A>G c.702A>G (p.Gly234=) c.777A>G (p.Gly259=) c.456A>G (p.Gly152=) c.774A>G (p.Gly258=) c.453A>G (p.Gly151=) c.621A>G (p.Gly207=) c.*103A>G (n.*103A>G) c.288A>G (p.Gly96=) c.609A>G (p.Gly203=) | |
| 3 | g.69949065A>T | CA434305853 | MITF | c.729A>T (p.Gly243=) c.726A>T (p.Gly242=) n.951A>T c.702A>T (p.Gly234=) c.777A>T (p.Gly259=) c.456A>T (p.Gly152=) c.774A>T (p.Gly258=) c.453A>T (p.Gly151=) c.621A>T (p.Gly207=) c.*103A>T (n.*103A>T) c.288A>T (p.Gly96=) c.609A>T (p.Gly203=) | |
| 3 | g.69949066A>C | CA353561268 | MITF | c.730A>C (p.Asn244His) c.727A>C (p.Asn243His) n.952A>C c.703A>C (p.Asn235His) c.778A>C (p.Asn260His) c.457A>C (p.Asn153His) c.775A>C (p.Asn259His) c.454A>C (p.Asn152His) c.622A>C (p.Asn208His) c.*104A>C (n.*104A>C) c.289A>C (p.Asn97His) c.610A>C (p.Asn204His) | |
| 3 | g.69949066A>G | CA353561270 | MITF | c.730A>G (p.Asn244Asp) c.727A>G (p.Asn243Asp) n.952A>G c.703A>G (p.Asn235Asp) c.778A>G (p.Asn260Asp) c.457A>G (p.Asn153Asp) c.775A>G (p.Asn259Asp) c.454A>G (p.Asn152Asp) c.622A>G (p.Asn208Asp) c.*104A>G (n.*104A>G) c.289A>G (p.Asn97Asp) c.610A>G (p.Asn204Asp) | |
| 3 | g.69949066A>T | CA353561269 | MITF | c.730A>T (p.Asn244Tyr) c.727A>T (p.Asn243Tyr) n.952A>T c.703A>T (p.Asn235Tyr) c.778A>T (p.Asn260Tyr) c.457A>T (p.Asn153Tyr) c.775A>T (p.Asn259Tyr) c.454A>T (p.Asn152Tyr) c.622A>T (p.Asn208Tyr) c.*104A>T (n.*104A>T) c.289A>T (p.Asn97Tyr) c.610A>T (p.Asn204Tyr) | |
| 3 | g.69949067A>C | CA353561271 | MITF | c.731A>C (p.Asn244Thr) c.728A>C (p.Asn243Thr) n.953A>C c.704A>C (p.Asn235Thr) c.779A>C (p.Asn260Thr) c.458A>C (p.Asn153Thr) c.776A>C (p.Asn259Thr) c.455A>C (p.Asn152Thr) c.623A>C (p.Asn208Thr) c.*105A>C (n.*105A>C) c.290A>C (p.Asn97Thr) c.611A>C (p.Asn204Thr) | |
| 3 | g.69949067A>G | CA353561272 | MITF | c.731A>G (p.Asn244Ser) c.728A>G (p.Asn243Ser) n.953A>G c.704A>G (p.Asn235Ser) c.779A>G (p.Asn260Ser) c.458A>G (p.Asn153Ser) c.776A>G (p.Asn259Ser) c.455A>G (p.Asn152Ser) c.623A>G (p.Asn208Ser) c.*105A>G (n.*105A>G) c.290A>G (p.Asn97Ser) c.611A>G (p.Asn204Ser) | |
| 3 | g.69949067A>T | CA353561273 | MITF | c.731A>T (p.Asn244Ile) c.728A>T (p.Asn243Ile) n.953A>T c.704A>T (p.Asn235Ile) c.779A>T (p.Asn260Ile) c.458A>T (p.Asn153Ile) c.776A>T (p.Asn259Ile) c.455A>T (p.Asn152Ile) c.623A>T (p.Asn208Ile) c.*105A>T (n.*105A>T) c.290A>T (p.Asn97Ile) c.611A>T (p.Asn204Ile) | gnomAD v4 |
| 3 | g.69949068C>A | CA353561274 | MITF | c.732C>A (p.Asn244Lys) c.729C>A (p.Asn243Lys) n.954C>A c.705C>A (p.Asn235Lys) c.780C>A (p.Asn260Lys) c.459C>A (p.Asn153Lys) c.777C>A (p.Asn259Lys) c.456C>A (p.Asn152Lys) c.624C>A (p.Asn208Lys) c.*106C>A (n.*106C>A) c.291C>A (p.Asn97Lys) c.612C>A (p.Asn204Lys) | |
| 3 | g.69949068C>G | CA353561275 | MITF | c.732C>G (p.Asn244Lys) c.729C>G (p.Asn243Lys) n.954C>G c.705C>G (p.Asn235Lys) c.780C>G (p.Asn260Lys) c.459C>G (p.Asn153Lys) c.777C>G (p.Asn259Lys) c.456C>G (p.Asn152Lys) c.624C>G (p.Asn208Lys) c.*106C>G (n.*106C>G) c.291C>G (p.Asn97Lys) c.612C>G (p.Asn204Lys) | |
| 3 | g.69949068C>T | CA434305854 | MITF | c.732C>T (p.Asn244=) c.729C>T (p.Asn243=) n.954C>T c.705C>T (p.Asn235=) c.780C>T (p.Asn260=) c.459C>T (p.Asn153=) c.777C>T (p.Asn259=) c.456C>T (p.Asn152=) c.624C>T (p.Asn208=) c.*106C>T (n.*106C>T) c.291C>T (p.Asn97=) c.612C>T (p.Asn204=) | |
| 3 | g.69949069T>A | CA353561276 | MITF | c.733T>A (p.Leu245Met) c.730T>A (p.Leu244Met) n.955T>A c.706T>A (p.Leu236Met) c.781T>A (p.Leu261Met) c.460T>A (p.Leu154Met) c.778T>A (p.Leu260Met) c.457T>A (p.Leu153Met) c.625T>A (p.Leu209Met) c.*107T>A (n.*107T>A) c.292T>A (p.Leu98Met) c.613T>A (p.Leu205Met) | |
| 3 | g.69949069T>C | CA434305855 | MITF | c.733T>C (p.Leu245=) c.730T>C (p.Leu244=) n.955T>C c.706T>C (p.Leu236=) c.781T>C (p.Leu261=) c.460T>C (p.Leu154=) c.778T>C (p.Leu260=) c.457T>C (p.Leu153=) c.625T>C (p.Leu209=) c.*107T>C (n.*107T>C) c.292T>C (p.Leu98=) c.613T>C (p.Leu205=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949069T>G | CA353561277 | MITF | c.733T>G (p.Leu245Val) c.730T>G (p.Leu244Val) n.955T>G c.706T>G (p.Leu236Val) c.781T>G (p.Leu261Val) c.460T>G (p.Leu154Val) c.778T>G (p.Leu260Val) c.457T>G (p.Leu153Val) c.625T>G (p.Leu209Val) c.*107T>G (n.*107T>G) c.292T>G (p.Leu98Val) c.613T>G (p.Leu205Val) | |
| 3 | g.69949069T= | CA1373440639 | MITF | c.733T= (p.Leu245=) c.730T= (p.Leu244=) n.955T= c.706T= (p.Leu236=) c.781T= (p.Leu261=) c.460T= (p.Leu154=) c.778T= (p.Leu260=) c.457T= (p.Leu153=) c.625T= (p.Leu209=) c.*107T= (n.*107T=) c.292T= (p.Leu98=) c.613T= (p.Leu205=) | |
| 3 | g.69949070T>A | CA353561278 | MITF | c.734T>A (p.Leu245Ter) c.731T>A (p.Leu244Ter) n.956T>A c.707T>A (p.Leu236Ter) c.782T>A (p.Leu261Ter) c.461T>A (p.Leu154Ter) c.779T>A (p.Leu260Ter) c.458T>A (p.Leu153Ter) c.626T>A (p.Leu209Ter) c.*108T>A (n.*108T>A) c.293T>A (p.Leu98Ter) c.614T>A (p.Leu205Ter) | |
| 3 | g.69949070T>C | CA353561279 | MITF | c.734T>C (p.Leu245Ser) c.731T>C (p.Leu244Ser) n.956T>C c.707T>C (p.Leu236Ser) c.782T>C (p.Leu261Ser) c.461T>C (p.Leu154Ser) c.779T>C (p.Leu260Ser) c.458T>C (p.Leu153Ser) c.626T>C (p.Leu209Ser) c.*108T>C (n.*108T>C) c.293T>C (p.Leu98Ser) c.614T>C (p.Leu205Ser) | |
| 3 | g.69949070T>G | CA353561280 | MITF | c.734T>G (p.Leu245Trp) c.731T>G (p.Leu244Trp) n.956T>G c.707T>G (p.Leu236Trp) c.782T>G (p.Leu261Trp) c.461T>G (p.Leu154Trp) c.779T>G (p.Leu260Trp) c.458T>G (p.Leu153Trp) c.626T>G (p.Leu209Trp) c.*108T>G (n.*108T>G) c.293T>G (p.Leu98Trp) c.614T>G (p.Leu205Trp) | |
| 3 | g.69949071G>A | CA434305856 | MITF | c.735G>A (p.Leu245=) c.732G>A (p.Leu244=) n.957G>A c.708G>A (p.Leu236=) c.783G>A (p.Leu261=) c.462G>A (p.Leu154=) c.780G>A (p.Leu260=) c.459G>A (p.Leu153=) c.627G>A (p.Leu209=) c.*109G>A (n.*109G>A) c.294G>A (p.Leu98=) c.615G>A (p.Leu205=) | |
| 3 | g.69949071G>C | CA353561281 | MITF | c.735G>C (p.Leu245Phe) c.732G>C (p.Leu244Phe) n.957G>C c.708G>C (p.Leu236Phe) c.783G>C (p.Leu261Phe) c.462G>C (p.Leu154Phe) c.780G>C (p.Leu260Phe) c.459G>C (p.Leu153Phe) c.627G>C (p.Leu209Phe) c.*109G>C (n.*109G>C) c.294G>C (p.Leu98Phe) c.615G>C (p.Leu205Phe) | |
| 3 | g.69949071G>T | CA353561282 | MITF | c.735G>T (p.Leu245Phe) c.732G>T (p.Leu244Phe) n.957G>T c.708G>T (p.Leu236Phe) c.783G>T (p.Leu261Phe) c.462G>T (p.Leu154Phe) c.780G>T (p.Leu260Phe) c.459G>T (p.Leu153Phe) c.627G>T (p.Leu209Phe) c.*109G>T (n.*109G>T) c.294G>T (p.Leu98Phe) c.615G>T (p.Leu205Phe) | |
| 3 | g.69949072A>C | CA353561285 | MITF | c.736A>C (p.Ile246Leu) c.733A>C (p.Ile245Leu) n.958A>C c.709A>C (p.Ile237Leu) c.784A>C (p.Ile262Leu) c.463A>C (p.Ile155Leu) c.781A>C (p.Ile261Leu) c.460A>C (p.Ile154Leu) c.628A>C (p.Ile210Leu) c.*110A>C (n.*110A>C) c.295A>C (p.Ile99Leu) c.616A>C (p.Ile206Leu) | |
| 3 | g.69949072A>G | CA353561283 | MITF | c.736A>G (p.Ile246Val) c.733A>G (p.Ile245Val) n.958A>G c.709A>G (p.Ile237Val) c.784A>G (p.Ile262Val) c.463A>G (p.Ile155Val) c.781A>G (p.Ile261Val) c.460A>G (p.Ile154Val) c.628A>G (p.Ile210Val) c.*110A>G (n.*110A>G) c.295A>G (p.Ile99Val) c.616A>G (p.Ile206Val) | |
| 3 | g.69949072A>T | CA353561284 | MITF | c.736A>T (p.Ile246Phe) c.733A>T (p.Ile245Phe) n.958A>T c.709A>T (p.Ile237Phe) c.784A>T (p.Ile262Phe) c.463A>T (p.Ile155Phe) c.781A>T (p.Ile261Phe) c.460A>T (p.Ile154Phe) c.628A>T (p.Ile210Phe) c.*110A>T (n.*110A>T) c.295A>T (p.Ile99Phe) c.616A>T (p.Ile206Phe) | |
| 3 | g.69949073T>A | CA353561286 | MITF | c.737T>A (p.Ile246Asn) c.734T>A (p.Ile245Asn) n.959T>A c.710T>A (p.Ile237Asn) c.785T>A (p.Ile262Asn) c.464T>A (p.Ile155Asn) c.782T>A (p.Ile261Asn) c.461T>A (p.Ile154Asn) c.629T>A (p.Ile210Asn) c.*111T>A (n.*111T>A) c.296T>A (p.Ile99Asn) c.617T>A (p.Ile206Asn) | |
| 3 | g.69949073T>C | CA353561287 | MITF | c.737T>C (p.Ile246Thr) c.734T>C (p.Ile245Thr) n.959T>C c.710T>C (p.Ile237Thr) c.785T>C (p.Ile262Thr) c.464T>C (p.Ile155Thr) c.782T>C (p.Ile261Thr) c.461T>C (p.Ile154Thr) c.629T>C (p.Ile210Thr) c.*111T>C (n.*111T>C) c.296T>C (p.Ile99Thr) c.617T>C (p.Ile206Thr) | gnomAD v4 |
| 3 | g.69949073T>G | CA353561288 | MITF | c.737T>G (p.Ile246Ser) c.734T>G (p.Ile245Ser) n.959T>G c.710T>G (p.Ile237Ser) c.785T>G (p.Ile262Ser) c.464T>G (p.Ile155Ser) c.782T>G (p.Ile261Ser) c.461T>G (p.Ile154Ser) c.629T>G (p.Ile210Ser) c.*111T>G (n.*111T>G) c.296T>G (p.Ile99Ser) c.617T>G (p.Ile206Ser) | |
| 3 | g.69949074T>A | CA434305857 | MITF | c.738T>A (p.Ile246=) c.735T>A (p.Ile245=) n.960T>A c.711T>A (p.Ile237=) c.786T>A (p.Ile262=) c.465T>A (p.Ile155=) c.783T>A (p.Ile261=) c.462T>A (p.Ile154=) c.630T>A (p.Ile210=) c.*112T>A (n.*112T>A) c.297T>A (p.Ile99=) c.618T>A (p.Ile206=) | |
| 3 | g.69949074T>C | CA434305858 | MITF | c.738T>C (p.Ile246=) c.735T>C (p.Ile245=) n.960T>C c.711T>C (p.Ile237=) c.786T>C (p.Ile262=) c.465T>C (p.Ile155=) c.783T>C (p.Ile261=) c.462T>C (p.Ile154=) c.630T>C (p.Ile210=) c.*112T>C (n.*112T>C) c.297T>C (p.Ile99=) c.618T>C (p.Ile206=) | |
| 3 | g.69949074T>G | CA353561289 | MITF | c.738T>G (p.Ile246Met) c.735T>G (p.Ile245Met) n.960T>G c.711T>G (p.Ile237Met) c.786T>G (p.Ile262Met) c.465T>G (p.Ile155Met) c.783T>G (p.Ile261Met) c.462T>G (p.Ile154Met) c.630T>G (p.Ile210Met) c.*112T>G (n.*112T>G) c.297T>G (p.Ile99Met) c.618T>G (p.Ile206Met) | |
| 3 | g.69949075G>A | CA353561290 | MITF | c.739G>A (p.Asp247Asn) c.736G>A (p.Asp246Asn) n.961G>A c.712G>A (p.Asp238Asn) c.787G>A (p.Asp263Asn) c.466G>A (p.Asp156Asn) c.784G>A (p.Asp262Asn) c.463G>A (p.Asp155Asn) c.631G>A (p.Asp211Asn) c.*113G>A (n.*113G>A) c.298G>A (p.Asp100Asn) c.619G>A (p.Asp207Asn) | gnomAD v4 |
| 3 | g.69949075G>C | CA353561291 | MITF | c.739G>C (p.Asp247His) c.736G>C (p.Asp246His) n.961G>C c.712G>C (p.Asp238His) c.787G>C (p.Asp263His) c.466G>C (p.Asp156His) c.784G>C (p.Asp262His) c.463G>C (p.Asp155His) c.631G>C (p.Asp211His) c.*113G>C (n.*113G>C) c.298G>C (p.Asp100His) c.619G>C (p.Asp207His) | |
| 3 | g.69949075G>T | CA353561292 | MITF | c.739G>T (p.Asp247Tyr) c.736G>T (p.Asp246Tyr) n.961G>T c.712G>T (p.Asp238Tyr) c.787G>T (p.Asp263Tyr) c.466G>T (p.Asp156Tyr) c.784G>T (p.Asp262Tyr) c.463G>T (p.Asp155Tyr) c.631G>T (p.Asp211Tyr) c.*113G>T (n.*113G>T) c.298G>T (p.Asp100Tyr) c.619G>T (p.Asp207Tyr) | |
| 3 | g.69949076A>C | CA353561293 | MITF | c.740A>C (p.Asp247Ala) c.737A>C (p.Asp246Ala) n.962A>C c.713A>C (p.Asp238Ala) c.788A>C (p.Asp263Ala) c.467A>C (p.Asp156Ala) c.785A>C (p.Asp262Ala) c.464A>C (p.Asp155Ala) c.632A>C (p.Asp211Ala) c.*114A>C (n.*114A>C) c.299A>C (p.Asp100Ala) c.620A>C (p.Asp207Ala) | ClinVar |
| 3 | g.69949076A>G | CA353561294 | MITF | c.740A>G (p.Asp247Gly) c.737A>G (p.Asp246Gly) n.962A>G c.713A>G (p.Asp238Gly) c.788A>G (p.Asp263Gly) c.467A>G (p.Asp156Gly) c.785A>G (p.Asp262Gly) c.464A>G (p.Asp155Gly) c.632A>G (p.Asp211Gly) c.*114A>G (n.*114A>G) c.299A>G (p.Asp100Gly) c.620A>G (p.Asp207Gly) | |
| 3 | g.69949076A>T | CA353561295 | MITF | c.740A>T (p.Asp247Val) c.737A>T (p.Asp246Val) n.962A>T c.713A>T (p.Asp238Val) c.788A>T (p.Asp263Val) c.467A>T (p.Asp156Val) c.785A>T (p.Asp262Val) c.464A>T (p.Asp155Val) c.632A>T (p.Asp211Val) c.*114A>T (n.*114A>T) c.299A>T (p.Asp100Val) c.620A>T (p.Asp207Val) | |
| 3 | g.69949077T>A | CA353561296 | MITF | c.741T>A (p.Asp247Glu) c.738T>A (p.Asp246Glu) n.963T>A c.714T>A (p.Asp238Glu) c.789T>A (p.Asp263Glu) c.468T>A (p.Asp156Glu) c.786T>A (p.Asp262Glu) c.465T>A (p.Asp155Glu) c.633T>A (p.Asp211Glu) c.*115T>A (n.*115T>A) c.300T>A (p.Asp100Glu) c.621T>A (p.Asp207Glu) | |
| 3 | g.69949077T>C | CA434305859 | MITF | c.741T>C (p.Asp247=) c.738T>C (p.Asp246=) n.963T>C c.714T>C (p.Asp238=) c.789T>C (p.Asp263=) c.468T>C (p.Asp156=) c.786T>C (p.Asp262=) c.465T>C (p.Asp155=) c.633T>C (p.Asp211=) c.*115T>C (n.*115T>C) c.300T>C (p.Asp100=) c.621T>C (p.Asp207=) | |
| 3 | g.69949077T>G | CA353561297 | MITF | c.741T>G (p.Asp247Glu) c.738T>G (p.Asp246Glu) n.963T>G c.714T>G (p.Asp238Glu) c.789T>G (p.Asp263Glu) c.468T>G (p.Asp156Glu) c.786T>G (p.Asp262Glu) c.465T>G (p.Asp155Glu) c.633T>G (p.Asp211Glu) c.*115T>G (n.*115T>G) c.300T>G (p.Asp100Glu) c.621T>G (p.Asp207Glu) | |
| 3 | g.69949078C>A | CA353561299 | MITF | c.742C>A (p.Leu248Ile) c.739C>A (p.Leu247Ile) n.964C>A c.715C>A (p.Leu239Ile) c.790C>A (p.Leu264Ile) c.469C>A (p.Leu157Ile) c.787C>A (p.Leu263Ile) c.466C>A (p.Leu156Ile) c.634C>A (p.Leu212Ile) c.*116C>A (n.*116C>A) c.301C>A (p.Leu101Ile) c.622C>A (p.Leu208Ile) | |
| 3 | g.69949078C>G | CA353561300 | MITF | c.742C>G (p.Leu248Val) c.739C>G (p.Leu247Val) n.964C>G c.715C>G (p.Leu239Val) c.790C>G (p.Leu264Val) c.469C>G (p.Leu157Val) c.787C>G (p.Leu263Val) c.466C>G (p.Leu156Val) c.634C>G (p.Leu212Val) c.*116C>G (n.*116C>G) c.301C>G (p.Leu101Val) c.622C>G (p.Leu208Val) | gnomAD v4 |
| 3 | g.69949078C>T | CA353561298 | MITF | c.742C>T (p.Leu248Phe) c.739C>T (p.Leu247Phe) n.964C>T c.715C>T (p.Leu239Phe) c.790C>T (p.Leu264Phe) c.469C>T (p.Leu157Phe) c.787C>T (p.Leu263Phe) c.466C>T (p.Leu156Phe) c.634C>T (p.Leu212Phe) c.*116C>T (n.*116C>T) c.301C>T (p.Leu101Phe) c.622C>T (p.Leu208Phe) | |
| 3 | g.69949079T>A | CA353561303 | MITF | c.743T>A (p.Leu248His) c.740T>A (p.Leu247His) n.965T>A c.716T>A (p.Leu239His) c.791T>A (p.Leu264His) c.470T>A (p.Leu157His) c.788T>A (p.Leu263His) c.467T>A (p.Leu156His) c.635T>A (p.Leu212His) c.*117T>A (n.*117T>A) c.302T>A (p.Leu101His) c.623T>A (p.Leu208His) | |
| 3 | g.69949079T>C | CA353561301 | MITF | c.743T>C (p.Leu248Pro) c.740T>C (p.Leu247Pro) n.965T>C c.716T>C (p.Leu239Pro) c.791T>C (p.Leu264Pro) c.470T>C (p.Leu157Pro) c.788T>C (p.Leu263Pro) c.467T>C (p.Leu156Pro) c.635T>C (p.Leu212Pro) c.*117T>C (n.*117T>C) c.302T>C (p.Leu101Pro) c.623T>C (p.Leu208Pro) | ClinVar |
| 3 | g.69949079T>G | CA353561302 | MITF | c.743T>G (p.Leu248Arg) c.740T>G (p.Leu247Arg) n.965T>G c.716T>G (p.Leu239Arg) c.791T>G (p.Leu264Arg) c.470T>G (p.Leu157Arg) c.788T>G (p.Leu263Arg) c.467T>G (p.Leu156Arg) c.635T>G (p.Leu212Arg) c.*117T>G (n.*117T>G) c.302T>G (p.Leu101Arg) c.623T>G (p.Leu208Arg) | |
| 3 | g.69949080T>A | CA434305860 | MITF | c.744T>A (p.Leu248=) c.741T>A (p.Leu247=) n.966T>A c.717T>A (p.Leu239=) c.792T>A (p.Leu264=) c.471T>A (p.Leu157=) c.789T>A (p.Leu263=) c.468T>A (p.Leu156=) c.636T>A (p.Leu212=) c.*118T>A (n.*118T>A) c.303T>A (p.Leu101=) c.624T>A (p.Leu208=) | |
| 3 | g.69949080T>C | CA434305861 | MITF | c.744T>C (p.Leu248=) c.741T>C (p.Leu247=) n.966T>C c.717T>C (p.Leu239=) c.792T>C (p.Leu264=) c.471T>C (p.Leu157=) c.789T>C (p.Leu263=) c.468T>C (p.Leu156=) c.636T>C (p.Leu212=) c.*118T>C (n.*118T>C) c.303T>C (p.Leu101=) c.624T>C (p.Leu208=) | |
| 3 | g.69949080T>G | CA434305862 | MITF | c.744T>G (p.Leu248=) c.741T>G (p.Leu247=) n.966T>G c.717T>G (p.Leu239=) c.792T>G (p.Leu264=) c.471T>G (p.Leu157=) c.789T>G (p.Leu263=) c.468T>G (p.Leu156=) c.636T>G (p.Leu212=) c.*118T>G (n.*118T>G) c.303T>G (p.Leu101=) c.624T>G (p.Leu208=) | |
| 3 | g.69949081T>A | CA353561304 | MITF | c.745T>A (p.Tyr249Asn) c.742T>A (p.Tyr248Asn) n.967T>A c.718T>A (p.Tyr240Asn) c.793T>A (p.Tyr265Asn) c.472T>A (p.Tyr158Asn) c.790T>A (p.Tyr264Asn) c.469T>A (p.Tyr157Asn) c.637T>A (p.Tyr213Asn) c.*119T>A (n.*119T>A) c.304T>A (p.Tyr102Asn) c.625T>A (p.Tyr209Asn) | |
| 3 | g.69949081T>C | CA353561305 | MITF | c.745T>C (p.Tyr249His) c.742T>C (p.Tyr248His) n.967T>C c.718T>C (p.Tyr240His) c.793T>C (p.Tyr265His) c.472T>C (p.Tyr158His) c.790T>C (p.Tyr264His) c.469T>C (p.Tyr157His) c.637T>C (p.Tyr213His) c.*119T>C (n.*119T>C) c.304T>C (p.Tyr102His) c.625T>C (p.Tyr209His) | |
| 3 | g.69949081T>G | CA353561306 | MITF | c.745T>G (p.Tyr249Asp) c.742T>G (p.Tyr248Asp) n.967T>G c.718T>G (p.Tyr240Asp) c.793T>G (p.Tyr265Asp) c.472T>G (p.Tyr158Asp) c.790T>G (p.Tyr264Asp) c.469T>G (p.Tyr157Asp) c.637T>G (p.Tyr213Asp) c.*119T>G (n.*119T>G) c.304T>G (p.Tyr102Asp) c.625T>G (p.Tyr209Asp) | |
| 3 | g.69949082A= | CA1373440645 | MITF | c.746A= (p.Tyr249=) c.743A= (p.Tyr248=) n.968A= c.719A= (p.Tyr240=) c.794A= (p.Tyr265=) c.473A= (p.Tyr158=) c.791A= (p.Tyr264=) c.470A= (p.Tyr157=) c.638A= (p.Tyr213=) c.*120A= (n.*120A=) c.305A= (p.Tyr102=) c.626A= (p.Tyr209=) | |
| 3 | g.69949082A>C | CA353561307 | MITF | c.746A>C (p.Tyr249Ser) c.743A>C (p.Tyr248Ser) n.968A>C c.719A>C (p.Tyr240Ser) c.794A>C (p.Tyr265Ser) c.473A>C (p.Tyr158Ser) c.791A>C (p.Tyr264Ser) c.470A>C (p.Tyr157Ser) c.638A>C (p.Tyr213Ser) c.*120A>C (n.*120A>C) c.305A>C (p.Tyr102Ser) c.626A>C (p.Tyr209Ser) | |
| 3 | g.69949082A>G | CA16043400 | MITF | c.746A>G (p.Tyr249Cys) c.743A>G (p.Tyr248Cys) n.968A>G c.719A>G (p.Tyr240Cys) c.794A>G (p.Tyr265Cys) c.473A>G (p.Tyr158Cys) c.791A>G (p.Tyr264Cys) c.470A>G (p.Tyr157Cys) c.638A>G (p.Tyr213Cys) c.*120A>G (n.*120A>G) c.305A>G (p.Tyr102Cys) c.626A>G (p.Tyr209Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949082A>T | CA353561308 | MITF | c.746A>T (p.Tyr249Phe) c.743A>T (p.Tyr248Phe) n.968A>T c.719A>T (p.Tyr240Phe) c.794A>T (p.Tyr265Phe) c.473A>T (p.Tyr158Phe) c.791A>T (p.Tyr264Phe) c.470A>T (p.Tyr157Phe) c.638A>T (p.Tyr213Phe) c.*120A>T (n.*120A>T) c.305A>T (p.Tyr102Phe) c.626A>T (p.Tyr209Phe) | gnomAD v4 |
| 3 | g.69949083T>A | CA353561309 | MITF | c.747T>A (p.Tyr249Ter) c.744T>A (p.Tyr248Ter) n.969T>A c.720T>A (p.Tyr240Ter) c.795T>A (p.Tyr265Ter) c.474T>A (p.Tyr158Ter) c.792T>A (p.Tyr264Ter) c.471T>A (p.Tyr157Ter) c.639T>A (p.Tyr213Ter) c.*121T>A (n.*121T>A) c.306T>A (p.Tyr102Ter) c.627T>A (p.Tyr209Ter) | |
| 3 | g.69949083T>C | CA434305863 | MITF | c.747T>C (p.Tyr249=) c.744T>C (p.Tyr248=) n.969T>C c.720T>C (p.Tyr240=) c.795T>C (p.Tyr265=) c.474T>C (p.Tyr158=) c.792T>C (p.Tyr264=) c.471T>C (p.Tyr157=) c.639T>C (p.Tyr213=) c.*121T>C (n.*121T>C) c.306T>C (p.Tyr102=) c.627T>C (p.Tyr209=) | dbSNP gnomAD v4 |
| 3 | g.69949083T>G | CA353561310 | MITF | c.747T>G (p.Tyr249Ter) c.744T>G (p.Tyr248Ter) n.969T>G c.720T>G (p.Tyr240Ter) c.795T>G (p.Tyr265Ter) c.474T>G (p.Tyr158Ter) c.792T>G (p.Tyr264Ter) c.471T>G (p.Tyr157Ter) c.639T>G (p.Tyr213Ter) c.*121T>G (n.*121T>G) c.306T>G (p.Tyr102Ter) c.627T>G (p.Tyr209Ter) | |
| 3 | g.69949083T= | CA1373440653 | MITF | c.747T= (p.Tyr249=) c.744T= (p.Tyr248=) n.969T= c.720T= (p.Tyr240=) c.795T= (p.Tyr265=) c.474T= (p.Tyr158=) c.792T= (p.Tyr264=) c.471T= (p.Tyr157=) c.639T= (p.Tyr213=) c.*121T= (n.*121T=) c.306T= (p.Tyr102=) c.627T= (p.Tyr209=) | |
| 3 | g.69949084G>A | CA353561311 | MITF | c.748G>A (p.Gly250Arg) c.745G>A (p.Gly249Arg) n.970G>A c.721G>A (p.Gly241Arg) c.796G>A (p.Gly266Arg) c.475G>A (p.Gly159Arg) c.793G>A (p.Gly265Arg) c.640G>A (p.Gly214Arg) c.*122G>A (n.*122G>A) c.307G>A (p.Gly103Arg) c.628G>A (p.Gly210Arg) | ClinVar gnomAD v4 |
| 3 | g.69949084G>C | CA353561312 | MITF | c.748G>C (p.Gly250Arg) c.745G>C (p.Gly249Arg) n.970G>C c.721G>C (p.Gly241Arg) c.796G>C (p.Gly266Arg) c.475G>C (p.Gly159Arg) c.793G>C (p.Gly265Arg) c.640G>C (p.Gly214Arg) c.*122G>C (n.*122G>C) c.307G>C (p.Gly103Arg) c.628G>C (p.Gly210Arg) | |
| 3 | g.69949084G>T | CA353561313 | MITF | c.748G>T (p.Gly250Ter) c.745G>T (p.Gly249Ter) n.970G>T c.721G>T (p.Gly241Ter) c.796G>T (p.Gly266Ter) c.475G>T (p.Gly159Ter) c.793G>T (p.Gly265Ter) c.640G>T (p.Gly214Ter) c.*122G>T (n.*122G>T) c.307G>T (p.Gly103Ter) c.628G>T (p.Gly210Ter) | |
| 3 | g.69949085G>A | CA353561315 | MITF | c.749G>A (p.Gly250Glu) c.746G>A (p.Gly249Glu) n.971G>A c.722G>A (p.Gly241Glu) c.797G>A (p.Gly266Glu) c.476G>A (p.Gly159Glu) c.794G>A (p.Gly265Glu) c.641G>A (p.Gly214Glu) c.*123G>A (n.*123G>A) c.308G>A (p.Gly103Glu) c.629G>A (p.Gly210Glu) | |
| 3 | g.69949085G>C | CA353561316 | MITF | c.749G>C (p.Gly250Ala) c.746G>C (p.Gly249Ala) n.971G>C c.722G>C (p.Gly241Ala) c.797G>C (p.Gly266Ala) c.476G>C (p.Gly159Ala) c.794G>C (p.Gly265Ala) c.641G>C (p.Gly214Ala) c.*123G>C (n.*123G>C) c.308G>C (p.Gly103Ala) c.629G>C (p.Gly210Ala) | |
| 3 | g.69949085G>T | CA353561314 | MITF | c.749G>T (p.Gly250Val) c.746G>T (p.Gly249Val) n.971G>T c.722G>T (p.Gly241Val) c.797G>T (p.Gly266Val) c.476G>T (p.Gly159Val) c.794G>T (p.Gly265Val) c.641G>T (p.Gly214Val) c.*123G>T (n.*123G>T) c.308G>T (p.Gly103Val) c.629G>T (p.Gly210Val) | |
| 3 | g.69949086A= | CA1373440657 | MITF | c.750A= (p.Gly250=) c.747A= (p.Gly249=) n.972A= c.723A= (p.Gly241=) c.798A= (p.Gly266=) c.477A= (p.Gly159=) c.795A= (p.Gly265=) c.642A= (p.Gly214=) c.*124A= (n.*124A=) c.309A= (p.Gly103=) c.630A= (p.Gly210=) | |
| 3 | g.69949086A>C | CA77001737 | MITF | c.750A>C (p.Gly250=) c.747A>C (p.Gly249=) n.972A>C c.723A>C (p.Gly241=) c.798A>C (p.Gly266=) c.477A>C (p.Gly159=) c.795A>C (p.Gly265=) c.642A>C (p.Gly214=) c.*124A>C (n.*124A>C) c.309A>C (p.Gly103=) c.630A>C (p.Gly210=) | dbSNP |
| 3 | g.69949086A>G | CA434305864 | MITF | c.750A>G (p.Gly250=) c.747A>G (p.Gly249=) n.972A>G c.723A>G (p.Gly241=) c.798A>G (p.Gly266=) c.477A>G (p.Gly159=) c.795A>G (p.Gly265=) c.642A>G (p.Gly214=) c.*124A>G (n.*124A>G) c.309A>G (p.Gly103=) c.630A>G (p.Gly210=) | |
| 3 | g.69949086A>T | CA434305865 | MITF | c.750A>T (p.Gly250=) c.747A>T (p.Gly249=) n.972A>T c.723A>T (p.Gly241=) c.798A>T (p.Gly266=) c.477A>T (p.Gly159=) c.795A>T (p.Gly265=) c.642A>T (p.Gly214=) c.*124A>T (n.*124A>T) c.309A>T (p.Gly103=) c.630A>T (p.Gly210=) | |
| 3 | g.69949087A>C | CA353561317 | MITF | c.751A>C (p.Asn251His) c.748A>C (p.Asn250His) n.973A>C c.724A>C (p.Asn242His) c.799A>C (p.Asn267His) c.478A>C (p.Asn160His) c.796A>C (p.Asn266His) c.643A>C (p.Asn215His) c.*125A>C (n.*125A>C) c.310A>C (p.Asn104His) c.631A>C (p.Asn211His) | |
| 3 | g.69949087A>G | CA353561318 | MITF | c.751A>G (p.Asn251Asp) c.748A>G (p.Asn250Asp) n.973A>G c.724A>G (p.Asn242Asp) c.799A>G (p.Asn267Asp) c.478A>G (p.Asn160Asp) c.796A>G (p.Asn266Asp) c.643A>G (p.Asn215Asp) c.*125A>G (n.*125A>G) c.310A>G (p.Asn104Asp) c.631A>G (p.Asn211Asp) | |
| 3 | g.69949087A>T | CA353561319 | MITF | c.751A>T (p.Asn251Tyr) c.748A>T (p.Asn250Tyr) n.973A>T c.724A>T (p.Asn242Tyr) c.799A>T (p.Asn267Tyr) c.478A>T (p.Asn160Tyr) c.796A>T (p.Asn266Tyr) c.643A>T (p.Asn215Tyr) c.*125A>T (n.*125A>T) c.310A>T (p.Asn104Tyr) c.631A>T (p.Asn211Tyr) | |
| 3 | g.69949088A>C | CA353561320 | MITF | c.752A>C (p.Asn251Thr) c.749A>C (p.Asn250Thr) n.974A>C c.725A>C (p.Asn242Thr) c.800A>C (p.Asn267Thr) c.479A>C (p.Asn160Thr) c.797A>C (p.Asn266Thr) c.644A>C (p.Asn215Thr) c.*126A>C (n.*126A>C) c.311A>C (p.Asn104Thr) c.632A>C (p.Asn211Thr) | |
| 3 | g.69949088A>G | CA353561321 | MITF | c.752A>G (p.Asn251Ser) c.749A>G (p.Asn250Ser) n.974A>G c.725A>G (p.Asn242Ser) c.800A>G (p.Asn267Ser) c.479A>G (p.Asn160Ser) c.797A>G (p.Asn266Ser) c.644A>G (p.Asn215Ser) c.*126A>G (n.*126A>G) c.311A>G (p.Asn104Ser) c.632A>G (p.Asn211Ser) | |
| 3 | g.69949088A>T | CA353561322 | MITF | c.752A>T (p.Asn251Ile) c.749A>T (p.Asn250Ile) n.974A>T c.725A>T (p.Asn242Ile) c.800A>T (p.Asn267Ile) c.479A>T (p.Asn160Ile) c.797A>T (p.Asn266Ile) c.644A>T (p.Asn215Ile) c.*126A>T (n.*126A>T) c.311A>T (p.Asn104Ile) c.632A>T (p.Asn211Ile) | |
| 3 | g.69949089C>A | CA2490475 | MITF | c.753C>A (p.Asn251Lys) c.750C>A (p.Asn250Lys) n.975C>A c.726C>A (p.Asn242Lys) c.801C>A (p.Asn267Lys) c.480C>A (p.Asn160Lys) c.798C>A (p.Asn266Lys) c.645C>A (p.Asn215Lys) c.*127C>A (n.*127C>A) c.312C>A (p.Asn104Lys) c.633C>A (p.Asn211Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69949089C= | CA1373440660 | MITF | c.753C= (p.Asn251=) c.750C= (p.Asn250=) n.975C= c.726C= (p.Asn242=) c.801C= (p.Asn267=) c.480C= (p.Asn160=) c.798C= (p.Asn266=) c.645C= (p.Asn215=) c.*127C= (n.*127C=) c.312C= (p.Asn104=) c.633C= (p.Asn211=) | |
| 3 | g.69949089C>G | CA353561323 | MITF | c.753C>G (p.Asn251Lys) c.750C>G (p.Asn250Lys) n.975C>G c.726C>G (p.Asn242Lys) c.801C>G (p.Asn267Lys) c.480C>G (p.Asn160Lys) c.798C>G (p.Asn266Lys) c.645C>G (p.Asn215Lys) c.*127C>G (n.*127C>G) c.312C>G (p.Asn104Lys) c.633C>G (p.Asn211Lys) | |
| 3 | g.69949089C>T | CA434305866 | MITF | c.753C>T (p.Asn251=) c.750C>T (p.Asn250=) n.975C>T c.726C>T (p.Asn242=) c.801C>T (p.Asn267=) c.480C>T (p.Asn160=) c.798C>T (p.Asn266=) c.645C>T (p.Asn215=) c.*127C>T (n.*127C>T) c.312C>T (p.Asn104=) c.633C>T (p.Asn211=) | |
| 3 | g.69949090C>A | CA353561324 | MITF | c.754C>A (p.Gln252Lys) c.751C>A (p.Gln251Lys) n.976C>A c.727C>A (p.Gln243Lys) c.802C>A (p.Gln268Lys) c.481C>A (p.Gln161Lys) c.799C>A (p.Gln267Lys) c.646C>A (p.Gln216Lys) c.*128C>A (n.*128C>A) c.313C>A (p.Gln105Lys) c.634C>A (p.Gln212Lys) | |
| 3 | g.69949090C= | CA1373440663 | MITF | c.754C= (p.Gln252=) c.751C= (p.Gln251=) n.976C= c.727C= (p.Gln243=) c.802C= (p.Gln268=) c.481C= (p.Gln161=) c.799C= (p.Gln267=) c.646C= (p.Gln216=) c.*128C= (n.*128C=) c.313C= (p.Gln105=) c.634C= (p.Gln212=) | |
| 3 | g.69949090C>G | CA2490476 | MITF | c.754C>G (p.Gln252Glu) c.751C>G (p.Gln251Glu) n.976C>G c.727C>G (p.Gln243Glu) c.802C>G (p.Gln268Glu) c.481C>G (p.Gln161Glu) c.799C>G (p.Gln267Glu) c.646C>G (p.Gln216Glu) c.*128C>G (n.*128C>G) c.313C>G (p.Gln105Glu) c.634C>G (p.Gln212Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69949090C>T | CA353561325 | MITF | c.754C>T (p.Gln252Ter) c.751C>T (p.Gln251Ter) n.976C>T c.727C>T (p.Gln243Ter) c.802C>T (p.Gln268Ter) c.481C>T (p.Gln161Ter) c.799C>T (p.Gln267Ter) c.646C>T (p.Gln216Ter) c.*128C>T (n.*128C>T) c.313C>T (p.Gln105Ter) c.634C>T (p.Gln212Ter) | |
| 3 | g.69949091A= | CA1373440665 | MITF | c.755A= (p.Gln252=) c.752A= (p.Gln251=) n.977A= c.728A= (p.Gln243=) c.803A= (p.Gln268=) c.482A= (p.Gln161=) c.800A= (p.Gln267=) c.647A= (p.Gln216=) c.*129A= (n.*129A=) c.314A= (p.Gln105=) c.635A= (p.Gln212=) | |
| 3 | g.69949091A>C | CA353561326 | MITF | c.755A>C (p.Gln252Pro) c.752A>C (p.Gln251Pro) n.977A>C c.728A>C (p.Gln243Pro) c.803A>C (p.Gln268Pro) c.482A>C (p.Gln161Pro) c.800A>C (p.Gln267Pro) c.647A>C (p.Gln216Pro) c.*129A>C (n.*129A>C) c.314A>C (p.Gln105Pro) c.635A>C (p.Gln212Pro) | |
| 3 | g.69949091A>G | CA77001738 | MITF | c.755A>G (p.Gln252Arg) c.752A>G (p.Gln251Arg) n.977A>G c.728A>G (p.Gln243Arg) c.803A>G (p.Gln268Arg) c.482A>G (p.Gln161Arg) c.800A>G (p.Gln267Arg) c.647A>G (p.Gln216Arg) c.*129A>G (n.*129A>G) c.314A>G (p.Gln105Arg) c.635A>G (p.Gln212Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69949091A>T | CA353561327 | MITF | c.755A>T (p.Gln252Leu) c.752A>T (p.Gln251Leu) n.977A>T c.728A>T (p.Gln243Leu) c.803A>T (p.Gln268Leu) c.482A>T (p.Gln161Leu) c.800A>T (p.Gln267Leu) c.647A>T (p.Gln216Leu) c.*129A>T (n.*129A>T) c.314A>T (p.Gln105Leu) c.635A>T (p.Gln212Leu) |