Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.191357054_191357085del | CA2669071516 | CCDC50 | c.50-34_50-3del (n.50-34_50-3del) | gnomAD v4 |
3 | g.191357084C>A | CA2581890929 | CCDC50 | c.50-4C>A (n.50-4C>A) | |
3 | g.191357084C= | CA1429201688 | CCDC50 | c.50-4C= (n.50-4C=) | |
3 | g.191357084C>G | CA142716 | CCDC50 | c.50-4C>G (n.50-4C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191357084C>T | CA2581890930 | CCDC50 | c.50-4C>T (n.50-4C>T) | |
3 | g.191357085T>C | CA2669071546 | CCDC50 | c.50-3T>C (n.50-3T>C) | gnomAD v4 |
3 | g.191357086A>C | CA355760585 | CCDC50 | c.50-2A>C (n.50-2A>C) | |
3 | g.191357086A>G | CA355760586 | CCDC50 | c.50-2A>G (n.50-2A>G) | gnomAD v4 |
3 | g.191357086A>T | CA355760587 | CCDC50 | c.50-2A>T (n.50-2A>T) | |
3 | g.191357087G>A | CA355760588 | CCDC50 | c.50-1G>A (n.50-1G>A) | |
3 | g.191357087G>C | CA355760589 | CCDC50 | c.50-1G>C (n.50-1G>C) | |
3 | g.191357087G>T | CA355760590 | CCDC50 | c.50-1G>T (n.50-1G>T) | |
3 | g.191357088T>A | CA355760593 | CCDC50 | c.50T>A (p.Val17Glu) | |
3 | g.191357088T>C | CA355760591 | CCDC50 | c.50T>C (p.Val17Ala) | |
3 | g.191357088T>G | CA355760592 | CCDC50 | c.50T>G (p.Val17Gly) | |
3 | g.191357089A= | CA1429201700 | CCDC50 | c.51A= (p.Val17=) | |
3 | g.191357089A>C | CA437420603 | CCDC50 | c.51A>C (p.Val17=) | |
3 | g.191357089A>G | CA437420604 | CCDC50 | c.51A>G (p.Val17=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191357089A>T | CA437420605 | CCDC50 | c.51A>T (p.Val17=) | |
3 | g.191357090T>A | CA355760594 | CCDC50 | c.52T>A (p.Cys18Ser) | |
3 | g.191357090T>C | CA355760595 | CCDC50 | c.52T>C (p.Cys18Arg) | |
3 | g.191357090T>G | CA355760596 | CCDC50 | c.52T>G (p.Cys18Gly) | |
3 | g.191357090_191357091del | CA2704889302 | CCDC50 | c.52_53del (p.Cys18ProfsTer21) | dbSNP |
3 | g.191357091G>A | CA355760597 | CCDC50 | c.53G>A (p.Cys18Tyr) | |
3 | g.191357091G>C | CA355760598 | CCDC50 | c.53G>C (p.Cys18Ser) | dbSNP gnomAD v2 |
3 | g.191357091G= | CA1429201708 | CCDC50 | c.53G= (p.Cys18=) | |
3 | g.191357091G>T | CA355760599 | CCDC50 | c.53G>T (p.Cys18Phe) | |
3 | g.191357092C>A | CA355760600 | CCDC50 | c.54C>A (p.Cys18Ter) | gnomAD v4 |
3 | g.191357092C= | CA1429201710 | CCDC50 | c.54C= (p.Cys18=) | |
3 | g.191357092C>G | CA355760601 | CCDC50 | c.54C>G (p.Cys18Trp) | |
3 | g.191357092C>T | CA437420606 | CCDC50 | c.54C>T (p.Cys18=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.191357093C>A | CA437420607 | CCDC50 | c.55C>A (p.Arg19=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.191357093C= | CA1429201714 | CCDC50 | c.55C= (p.Arg19=) | |
3 | g.191357093C>G | CA355760602 | CCDC50 | c.55C>G (p.Arg19Gly) | COSMIC |
3 | g.191357093C>T | CA2755138 | CCDC50 | c.55C>T (p.Arg19Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191357094G>A | CA2755139 | CCDC50 | c.56G>A (p.Arg19Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191357094G>C | CA355760603 | CCDC50 | c.56G>C (p.Arg19Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191357094G= | CA1429201722 | CCDC50 | c.56G= (p.Arg19=) | |
3 | g.191357094G>T | CA355760604 | CCDC50 | c.56G>T (p.Arg19Leu) | |
3 | g.191357095A>C | CA437420608 | CCDC50 | c.57A>C (p.Arg19=) | |
3 | g.191357095A>G | CA437420609 | CCDC50 | c.57A>G (p.Arg19=) | gnomAD v4 COSMIC |
3 | g.191357095A>T | CA437420610 | CCDC50 | c.57A>T (p.Arg19=) | |
3 | g.191357096G>A | CA355760605 | CCDC50 | c.58G>A (p.Asp20Asn) | |
3 | g.191357096G>C | CA355760607 | CCDC50 | c.58G>C (p.Asp20His) | COSMIC |
3 | g.191357096G>T | CA355760606 | CCDC50 | c.58G>T (p.Asp20Tyr) | |
3 | g.191357097A>C | CA355760608 | CCDC50 | c.59A>C (p.Asp20Ala) | |
3 | g.191357097A>G | CA355760609 | CCDC50 | c.59A>G (p.Asp20Gly) | |
3 | g.191357097A>T | CA355760610 | CCDC50 | c.59A>T (p.Asp20Val) | |
3 | g.191357098T>A | CA355760611 | CCDC50 | c.60T>A (p.Asp20Glu) | |
3 | g.191357098T>C | CA437420611 | CCDC50 | c.60T>C (p.Asp20=) |