Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.55954014_55954067del | CA2619237507 | gnomAD v4 | ||
12 | g.55954026_55954029del | CA2038177223 | dbSNP | ||
12 | g.55954028G>T | CA2619237538 | gnomAD v4 | ||
12 | g.55954028_55954029delinsGT | CA2038177239 | |||
12 | g.55954029del | CA237587662 | dbSNP gnomAD v4 | ||
12 | g.55954030G>T | CA2619237540 | gnomAD v4 | ||
12 | g.55954032T>C | CA2505635311 | |||
12 | g.55954034C>A | CA2619237541 | gnomAD v4 | ||
12 | g.55954035A= | CA2038177242 | |||
12 | g.55954035A>C | CA690141466 | dbSNP | ||
12 | g.55954035A>G | CA2619237542 | gnomAD v4 | ||
12 | g.55954036C>A | CA2619237546 | gnomAD v4 | ||
12 | g.55954036C= | CA2038177245 | |||
12 | g.55954036C>G | CA237587664 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.55954039C>A | CA2619237552 | gnomAD v4 | ||
12 | g.55954039C>T | CA2539938020 | gnomAD v4 | ||
12 | g.55954040C>A | CA2619237555 | gnomAD v4 | ||
12 | g.55954040C>T | CA2545106943 | gnomAD v4 | ||
12 | g.55954041T>A | CA2619237559 | gnomAD v4 | ||
12 | g.55954043_55954044del | CA2619237562 | gnomAD v4 | ||
12 | g.55954043C>A | CA690141468 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.55954043C= | CA2038177247 | |||
12 | g.55954043C>T | CA237587673 | dbSNP | ||
12 | g.55954044T>C | CA2619237567 | gnomAD v4 | ||
12 | g.55954045T>G | CA2619237569 | gnomAD v4 | ||
12 | g.55954047T>A | CA2581091162 | |||
12 | g.55954047T>C | CA237587677 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.55954047T>G | CA2581091161 | |||
12 | g.55954047T= | CA2038177256 | |||
12 | g.55954049T>A | CA237587686 | dbSNP | ||
12 | g.55954049T= | CA2038177259 | |||
12 | g.55954050A= | CA2038177262 | |||
12 | g.55954050A>G | CA690141471 | dbSNP gnomAD v4 | ||
12 | g.55954050_55954051delinsAC | CA2038177264 | |||
12 | g.55954051C>A | CA2619237578 | gnomAD v4 | ||
12 | g.55954051C= | CA2038177270 | |||
12 | g.55954051C>T | CA2038177274 | dbSNP gnomAD v4 | ||
12 | g.55954052del | CA2038177266 | dbSNP | ||
12 | g.55954052C>A | CA2619237580 | gnomAD v4 | ||
12 | g.55954052C= | CA2038177279 | |||
12 | g.55954052C>G | CA2038177280 | dbSNP | ||
12 | g.55954052C>T | CA237587692 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.55954053T>C | CA2619237584 | gnomAD v4 | ||
12 | g.55954054T>A | CA690141473 | dbSNP | ||
12 | g.55954054T= | CA2038177284 | |||
12 | g.55954055C>A | CA2619237586 | gnomAD v4 | ||
12 | g.55954055C>T | CA2619237588 | gnomAD v4 | ||
12 | g.55954056A>C | CA2619237589 | gnomAD v4 | ||
12 | g.55954056A>G | CA2619237590 | gnomAD v4 | ||
12 | g.55954057C>A | CA2619237593 | gnomAD v4 | ||
12 | g.55954058T>A | CA2038177287 | dbSNP | ||
12 | g.55954058T= | CA2038177285 | |||
12 | g.55954059C>A | CA2619237596 | gnomAD v4 | ||
12 | g.55954060C>A | CA2619237599 | gnomAD v4 | ||
12 | g.55954060C>T | CA2619237598 | gnomAD v4 | ||
12 | g.55954061T>A | CA2619237601 | gnomAD v4 | ||
12 | g.55954062T>A | CA2619237603 | gnomAD v4 | ||
12 | g.55954063A>G | CA2619237604 | gnomAD v4 | ||
12 | g.55954063A>T | CA2619237605 | gnomAD v4 | ||
12 | g.55954066T>A | CA2619237607 | gnomAD v4 | ||
12 | g.55954067G>T | CA2619237610 | gnomAD v4 | ||
12 | g.55954069C= | CA2038177290 | |||
12 | g.55954069C>T | CA237587697 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.55954070G>A | CA605248674 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.55954070G= | CA2038177293 | |||
12 | g.55954070G>T | CA2619237613 | gnomAD v4 | ||
12 | g.55954072A>G | CA2619237615 | gnomAD v4 | ||
12 | g.55954073G>C | CA2038177300 | dbSNP | ||
12 | g.55954073G= | CA2038177298 | |||
12 | g.55954073G>T | CA2619237617 | gnomAD v4 | ||
12 | g.55954074A>C | CA2619237619 | gnomAD v4 | ||
12 | g.55954076T>G | CA913726083 | gnomAD v2 | ||
12 | g.55954078T>C | CA237587701 | dbSNP | ||
12 | g.55954078T= | CA2038177302 | |||
12 | g.55954078_55954079delinsTC | CA2038177304 | |||
12 | g.55954079C= | CA2038177307 | |||
12 | g.55954079C>T | CA2038177309 | dbSNP gnomAD v4 | ||
12 | g.55954081del | CA2038177306 | dbSNP gnomAD v4 | ||
12 | g.55954080C>A | CA2619237624 | gnomAD v4 | ||
12 | g.55954080C>T | CA2619237627 | gnomAD v4 | ||
12 | g.55954081C>A | CA2619237630 | gnomAD v4 | ||
12 | g.55954083A>G | CA2619237631 | gnomAD v4 | ||
12 | g.55954084G>T | CA2619237633 | gnomAD v4 | ||
12 | g.55954086A= | CA2038177314 | |||
12 | g.55954086A>G | CA2619237635 | gnomAD v4 | ||
12 | g.55954086A>T | CA237587706 | dbSNP | ||
12 | g.55954087G>A | CA2038177318 | dbSNP gnomAD v4 | ||
12 | g.55954087G= | CA2038177317 | |||
12 | g.55954087G>T | CA2619237638 | gnomAD v4 | ||
12 | g.55954088C>A | CA2619237640 | gnomAD v4 | ||
12 | g.55954088C>G | CA2619237641 | gnomAD v4 | ||
12 | g.55954090A= | CA2038177320 | |||
12 | g.55954090A>G | CA947964246 | dbSNP gnomAD v3 gnomAD v4 | ||
12 | g.55954091C>A | CA2619237642 | gnomAD v4 | ||
12 | g.55954091C= | CA2038177322 | |||
12 | g.55954091C>T | CA237587710 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.55954092A>T | CA2619237645 | gnomAD v4 | ||
12 | g.55954094A>G | CA2619237650 | gnomAD v4 | ||
12 | g.55954098del | CA2619237648 | gnomAD v4 | ||
12 | g.55954097A>C | CA2619237652 | gnomAD v4 | ||
12 | g.55954099C>A | CA655047471 | gnomAD v4 COSMIC | ||
12 | g.55954100C>A | CA2619237658 | gnomAD v4 | ||
12 | g.55954100C= | CA2038177325 | |||
12 | g.55954100C>G | CA2038177326 | dbSNP | ||
12 | g.55954100C>T | CA2619237657 | gnomAD v4 | ||
12 | g.55954101A>G | CA2619237660 | gnomAD v4 | ||
12 | g.55954102G>A | CA237587713 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
12 | g.55954102G= | CA2038177333 | |||
12 | g.55954102G>T | CA237587714 | dbSNP | ||
12 | g.55954103C>A | CA2619237664 | gnomAD v4 | ||
12 | g.55954103C>T | CA2619237666 | gnomAD v4 | ||
12 | g.55954104A>G | CA2619237668 | gnomAD v4 | ||
12 | g.55954106C>A | CA2619237670 | PMEL | c.*108G>T (n.*108G>T) | gnomAD v4 |
12 | g.55954108G>T | CA2619237673 | PMEL | c.*106C>A (n.*106C>A) | gnomAD v4 |
12 | g.55954109G>A | CA2619237674 | PMEL | c.*105C>T (n.*105C>T) | gnomAD v4 |
12 | g.55954109G>C | CA2619237676 | PMEL | c.*105C>G (n.*105C>G) | gnomAD v4 |
12 | g.55954109G>T | CA2619237677 | PMEL | c.*105C>A (n.*105C>A) | gnomAD v4 |
12 | g.55954110C>A | CA2619237678 | PMEL | c.*104G>T (n.*104G>T) | gnomAD v4 |
12 | g.55954110C>G | CA2619237679 | PMEL | c.*104G>C (n.*104G>C) | gnomAD v4 |
12 | g.55954113T>C | CA2619237681 | PMEL | c.*101A>G (n.*101A>G) | gnomAD v4 |
12 | g.55954114G>A | CA2619237691 | PMEL | c.*100C>T (n.*100C>T) | gnomAD v4 |
12 | g.55954114G>C | CA2619237693 | PMEL | c.*100C>G (n.*100C>G) | gnomAD v4 |
12 | g.55954114G>T | CA2575185579 | PMEL | c.*100C>A (n.*100C>A) | gnomAD v4 |
12 | g.55954115A>C | CA2840376163 | PMEL | c.*99T>G (n.*99T>G) | |
12 | g.55954115A>T | CA2619237695 | PMEL | c.*99T>A (n.*99T>A) | gnomAD v4 |
12 | g.55954116G>A | CA2038177341 | PMEL | c.*98C>T (n.*98C>T) | dbSNP gnomAD v4 |
12 | g.55954116G= | CA2038177339 | PMEL | c.*98C= (n.*98C=) | |
12 | g.55954116G>T | CA2575185580 | PMEL | c.*98C>A (n.*98C>A) | gnomAD v4 |
12 | g.55954118A= | CA2038177343 | PMEL | c.*96T= (n.*96T=) | |
12 | g.55954118A>G | CA237587718 | PMEL | c.*96T>C (n.*96T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.55954118A>T | CA2575185581 | PMEL | c.*96T>A (n.*96T>A) | |
12 | g.55954119T>G | CA2796095935 | PMEL | c.*95A>C (n.*95A>C) | |
12 | g.55954122A= | CA2038177345 | PMEL | c.*92T= (n.*92T=) | |
12 | g.55954122A>T | CA2038177346 | PMEL | c.*92T>A (n.*92T>A) | dbSNP |
12 | g.55954123T>C | CA237587724 | PMEL | c.*91A>G (n.*91A>G) | dbSNP gnomAD v4 |
12 | g.55954123T= | CA2038177349 | PMEL | c.*91A= (n.*91A=) | |
12 | g.55954124T>C | CA2619237699 | PMEL | c.*90A>G (n.*90A>G) | gnomAD v4 |
12 | g.55954126C>A | CA2575185582 | PMEL | c.*88G>T (n.*88G>T) | |
12 | g.55954126C>T | CA2619237702 | PMEL | c.*88G>A (n.*88G>A) | gnomAD v4 |
12 | g.55954127del | CA2619237704 | PMEL | c.*87del (n.*87del) | gnomAD v4 |
12 | g.55954127A= | CA2038177352 | PMEL | c.*87T= (n.*87T=) | |
12 | g.55954127A>G | CA690141486 | PMEL | c.*87T>C (n.*87T>C) | dbSNP gnomAD v4 |
12 | g.55954128G>A | CA2619237707 | PMEL | c.*86C>T (n.*86C>T) | gnomAD v4 |
12 | g.55954128G>T | CA2575185583 | PMEL | c.*86C>A (n.*86C>A) | gnomAD v4 |