| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2411634C>A | CA379132387 | TRPM5 | c.2607+1G>T (n.2607+1G>T) c.2589+1G>T (n.2589+1G>T) c.2868+1G>T (n.2868+1G>T) c.2661+1G>T (n.2661+1G>T) | |
| 11 | g.2411634C= | CA1948131459 | TRPM5 | c.2607+1G= (n.2607+1G=) c.2589+1G= (n.2589+1G=) c.2868+1G= (n.2868+1G=) c.2661+1G= (n.2661+1G=) | |
| 11 | g.2411634C>G | CA379132388 | TRPM5 | c.2607+1G>C (n.2607+1G>C) c.2589+1G>C (n.2589+1G>C) c.2868+1G>C (n.2868+1G>C) c.2661+1G>C (n.2661+1G>C) | |
| 11 | g.2411634C>T | CA5821006 | TRPM5 | c.2607+1G>A (n.2607+1G>A) c.2589+1G>A (n.2589+1G>A) c.2868+1G>A (n.2868+1G>A) c.2661+1G>A (n.2661+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2411635C>A | CA379132391 | TRPM5 | c.2607G>T (p.Met869Ile) c.2589G>T (p.Met863Ile) c.2868G>T (p.Met956Ile) c.2661G>T (p.Met887Ile) | |
| 11 | g.2411635C>G | CA379132390 | TRPM5 | c.2607G>C (p.Met869Ile) c.2589G>C (p.Met863Ile) c.2868G>C (p.Met956Ile) c.2661G>C (p.Met887Ile) | |
| 11 | g.2411635C>T | CA379132389 | TRPM5 | c.2607G>A (p.Met869Ile) c.2589G>A (p.Met863Ile) c.2868G>A (p.Met956Ile) c.2661G>A (p.Met887Ile) | gnomAD v4 |
| 11 | g.2411636A>C | CA379132392 | TRPM5 | c.2606T>G (p.Met869Arg) c.2588T>G (p.Met863Arg) c.2867T>G (p.Met956Arg) c.2660T>G (p.Met887Arg) | |
| 11 | g.2411636A>G | CA379132393 | TRPM5 | c.2606T>C (p.Met869Thr) c.2588T>C (p.Met863Thr) c.2867T>C (p.Met956Thr) c.2660T>C (p.Met887Thr) | |
| 11 | g.2411636A>T | CA379132394 | TRPM5 | c.2606T>A (p.Met869Lys) c.2588T>A (p.Met863Lys) c.2867T>A (p.Met956Lys) c.2660T>A (p.Met887Lys) | |
| 11 | g.2411637T>A | CA379132395 | TRPM5 | c.2605A>T (p.Met869Leu) c.2587A>T (p.Met863Leu) c.2866A>T (p.Met956Leu) c.2659A>T (p.Met887Leu) | |
| 11 | g.2411637T>C | CA216322501 | TRPM5 | c.2605A>G (p.Met869Val) c.2587A>G (p.Met863Val) c.2866A>G (p.Met956Val) c.2659A>G (p.Met887Val) | dbSNP |
| 11 | g.2411637T>G | CA379132396 | TRPM5 | c.2605A>C (p.Met869Leu) c.2587A>C (p.Met863Leu) c.2866A>C (p.Met956Leu) c.2659A>C (p.Met887Leu) | |
| 11 | g.2411637T= | CA1948131463 | TRPM5 | c.2605A= (p.Met869=) c.2587A= (p.Met863=) c.2866A= (p.Met956=) c.2659A= (p.Met887=) | |
| 11 | g.2411638G>A | CA472415381 | TRPM5 | c.2604C>T (p.Arg868=) c.2586C>T (p.Arg862=) c.2865C>T (p.Arg955=) c.2658C>T (p.Arg886=) | |
| 11 | g.2411638G>C | CA472415382 | TRPM5 | c.2604C>G (p.Arg868=) c.2586C>G (p.Arg862=) c.2865C>G (p.Arg955=) c.2658C>G (p.Arg886=) | |
| 11 | g.2411638G= | CA1948131467 | TRPM5 | c.2604C= (p.Arg868=) c.2586C= (p.Arg862=) c.2865C= (p.Arg955=) c.2658C= (p.Arg886=) | |
| 11 | g.2411638G>T | CA5821007 | TRPM5 | c.2604C>A (p.Arg868=) c.2586C>A (p.Arg862=) c.2865C>A (p.Arg955=) c.2658C>A (p.Arg886=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2411639C>A | CA379132397 | TRPM5 | c.2603G>T (p.Arg868Leu) c.2585G>T (p.Arg862Leu) c.2864G>T (p.Arg955Leu) c.2657G>T (p.Arg886Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2411639C= | CA1948131471 | TRPM5 | c.2603G= (p.Arg868=) c.2585G= (p.Arg862=) c.2864G= (p.Arg955=) c.2657G= (p.Arg886=) | |
| 11 | g.2411639C>G | CA379132398 | TRPM5 | c.2603G>C (p.Arg868Pro) c.2585G>C (p.Arg862Pro) c.2864G>C (p.Arg955Pro) c.2657G>C (p.Arg886Pro) | |
| 11 | g.2411639C>T | CA5821008 | TRPM5 | c.2603G>A (p.Arg868His) c.2585G>A (p.Arg862His) c.2864G>A (p.Arg955His) c.2657G>A (p.Arg886His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2411640G>A | CA5821009 | TRPM5 | c.2602C>T (p.Arg868Cys) c.2584C>T (p.Arg862Cys) c.2863C>T (p.Arg955Cys) c.2656C>T (p.Arg886Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2411640G>C | CA379132399 | TRPM5 | c.2602C>G (p.Arg868Gly) c.2584C>G (p.Arg862Gly) c.2863C>G (p.Arg955Gly) c.2656C>G (p.Arg886Gly) | |
| 11 | g.2411640G= | CA1948131476 | TRPM5 | c.2602C= (p.Arg868=) c.2584C= (p.Arg862=) c.2863C= (p.Arg955=) c.2656C= (p.Arg886=) | |
| 11 | g.2411640G>T | CA379132400 | TRPM5 | c.2602C>A (p.Arg868Ser) c.2584C>A (p.Arg862Ser) c.2863C>A (p.Arg955Ser) c.2656C>A (p.Arg886Ser) | gnomAD v4 |
| 11 | g.2411641C>A | CA379132402 | TRPM5 | c.2601G>T (p.Glu867Asp) c.2583G>T (p.Glu861Asp) c.2862G>T (p.Glu954Asp) c.2655G>T (p.Glu885Asp) | |
| 11 | g.2411641C>G | CA379132401 | TRPM5 | c.2601G>C (p.Glu867Asp) c.2583G>C (p.Glu861Asp) c.2862G>C (p.Glu954Asp) c.2655G>C (p.Glu885Asp) | gnomAD v4 |
| 11 | g.2411641C>T | CA472415386 | TRPM5 | c.2601G>A (p.Glu867=) c.2583G>A (p.Glu861=) c.2862G>A (p.Glu954=) c.2655G>A (p.Glu885=) | gnomAD v4 |
| 11 | g.2411642T>A | CA379132403 | TRPM5 | c.2600A>T (p.Glu867Val) c.2582A>T (p.Glu861Val) c.2861A>T (p.Glu954Val) c.2654A>T (p.Glu885Val) | |
| 11 | g.2411642T>C | CA379132404 | TRPM5 | c.2600A>G (p.Glu867Gly) c.2582A>G (p.Glu861Gly) c.2861A>G (p.Glu954Gly) c.2654A>G (p.Glu885Gly) | |
| 11 | g.2411642T>G | CA379132405 | TRPM5 | c.2600A>C (p.Glu867Ala) c.2582A>C (p.Glu861Ala) c.2861A>C (p.Glu954Ala) c.2654A>C (p.Glu885Ala) | |
| 11 | g.2411643C>A | CA379132406 | TRPM5 | c.2599G>T (p.Glu867Ter) c.2581G>T (p.Glu861Ter) c.2860G>T (p.Glu954Ter) c.2653G>T (p.Glu885Ter) | |
| 11 | g.2411643C>G | CA379132407 | TRPM5 | c.2599G>C (p.Glu867Gln) c.2581G>C (p.Glu861Gln) c.2860G>C (p.Glu954Gln) c.2653G>C (p.Glu885Gln) | |
| 11 | g.2411643C>T | CA379132408 | TRPM5 | c.2599G>A (p.Glu867Lys) c.2581G>A (p.Glu861Lys) c.2860G>A (p.Glu954Lys) c.2653G>A (p.Glu885Lys) | |
| 11 | g.2411644T>A | CA472415387 | TRPM5 | c.2598A>T (p.Val866=) c.2580A>T (p.Val860=) c.2859A>T (p.Val953=) c.2652A>T (p.Val884=) | |
| 11 | g.2411644T>C | CA472415389 | TRPM5 | c.2598A>G (p.Val866=) c.2580A>G (p.Val860=) c.2859A>G (p.Val953=) c.2652A>G (p.Val884=) | |
| 11 | g.2411644T>G | CA472415388 | TRPM5 | c.2598A>C (p.Val866=) c.2580A>C (p.Val860=) c.2859A>C (p.Val953=) c.2652A>C (p.Val884=) | |
| 11 | g.2411645A= | CA1948131479 | TRPM5 | c.2597T= (p.Val866=) c.2579T= (p.Val860=) c.2858T= (p.Val953=) c.2651T= (p.Val884=) | |
| 11 | g.2411645A>C | CA379132409 | TRPM5 | c.2597T>G (p.Val866Gly) c.2579T>G (p.Val860Gly) c.2858T>G (p.Val953Gly) c.2651T>G (p.Val884Gly) | |
| 11 | g.2411645A>G | CA5821010 | TRPM5 | c.2597T>C (p.Val866Ala) c.2579T>C (p.Val860Ala) c.2858T>C (p.Val953Ala) c.2651T>C (p.Val884Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2411645A>T | CA379132410 | TRPM5 | c.2597T>A (p.Val866Glu) c.2579T>A (p.Val860Glu) c.2858T>A (p.Val953Glu) c.2651T>A (p.Val884Glu) | |
| 11 | g.2411646C>A | CA5821011 | TRPM5 | c.2596G>T (p.Val866Leu) c.2578G>T (p.Val860Leu) c.2857G>T (p.Val953Leu) c.2650G>T (p.Val884Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2411646C= | CA1948131484 | TRPM5 | c.2596G= (p.Val866=) c.2578G= (p.Val860=) c.2857G= (p.Val953=) c.2650G= (p.Val884=) | |
| 11 | g.2411646C>G | CA379132411 | TRPM5 | c.2596G>C (p.Val866Leu) c.2578G>C (p.Val860Leu) c.2857G>C (p.Val953Leu) c.2650G>C (p.Val884Leu) | |
| 11 | g.2411646C>T | CA379132412 | TRPM5 | c.2596G>A (p.Val866Ile) c.2578G>A (p.Val860Ile) c.2857G>A (p.Val953Ile) c.2650G>A (p.Val884Ile) | dbSNP |
| 11 | g.2411647C>A | CA5821012 | TRPM5 | c.2595G>T (p.Val865=) c.2577G>T (p.Val859=) c.2856G>T (p.Val952=) c.2649G>T (p.Val883=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2411647C= | CA1948131488 | TRPM5 | c.2595G= (p.Val865=) c.2577G= (p.Val859=) c.2856G= (p.Val952=) c.2649G= (p.Val883=) | |
| 11 | g.2411647C>G | CA472415390 | TRPM5 | c.2595G>C (p.Val865=) c.2577G>C (p.Val859=) c.2856G>C (p.Val952=) c.2649G>C (p.Val883=) | dbSNP |
| 11 | g.2411647C>T | CA472415391 | TRPM5 | c.2595G>A (p.Val865=) c.2577G>A (p.Val859=) c.2856G>A (p.Val952=) c.2649G>A (p.Val883=) |