| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.179128019_179128020del | CA2676855658 | ADAMTS2 | c.2558_2559del (p.Ser853CysfsTer?) | gnomAD v4 |
| 5 | g.179128018G>A | CA362423044 | ADAMTS2 | c.2558C>T (p.Ser853Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179128018G>C | CA16605344 | ADAMTS2 | c.2558C>G (p.Ser853Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179128018G>T | CA362423050 | ADAMTS2 | c.2558C>A (p.Ser853Tyr) | |
| 5 | g.179128019A>C | CA3595518 | ADAMTS2 | c.2557T>G (p.Ser853Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179128019A>G | CA362423052 | ADAMTS2 | c.2557T>C (p.Ser853Pro) | |
| 5 | g.179128019A>T | CA362423054 | ADAMTS2 | c.2557T>A (p.Ser853Thr) | |
| 5 | g.179128020G>A | CA448032620 | ADAMTS2 | c.2556C>T (p.Asp852=) | COSMIC |
| 5 | g.179128020G>C | CA362423057 | ADAMTS2 | c.2556C>G (p.Asp852Glu) | |
| 5 | g.179128020G>T | CA362423059 | ADAMTS2 | c.2556C>A (p.Asp852Glu) | |
| 5 | g.179128021T>A | CA362423066 | ADAMTS2 | c.2555A>T (p.Asp852Val) | |
| 5 | g.179128021T>C | CA362423064 | ADAMTS2 | c.2555A>G (p.Asp852Gly) | |
| 5 | g.179128021T>G | CA362423061 | ADAMTS2 | c.2555A>C (p.Asp852Ala) | |
| 5 | g.179128022C>A | CA362423068 | ADAMTS2 | c.2554G>T (p.Asp852Tyr) | gnomAD v4 |
| 5 | g.179128022C>G | CA362423072 | ADAMTS2 | c.2554G>C (p.Asp852His) | |
| 5 | g.179128022C>T | CA362423071 | ADAMTS2 | c.2554G>A (p.Asp852Asn) | |
| 5 | g.179128023del | CA2676855668 | ADAMTS2 | c.2554del (p.Asp852ThrfsTer9) | gnomAD v4 |
| 5 | g.179128023C>A | CA362423075 | ADAMTS2 | c.2553G>T (p.Glu851Asp) | dbSNP |
| 5 | g.179128023C>G | CA362423078 | ADAMTS2 | c.2553G>C (p.Glu851Asp) | |
| 5 | g.179128023C>T | CA448032643 | ADAMTS2 | c.2553G>A (p.Glu851=) | gnomAD v4 |
| 5 | g.179128024T>A | CA362423080 | ADAMTS2 | c.2552A>T (p.Glu851Val) | |
| 5 | g.179128024T>C | CA362423082 | ADAMTS2 | c.2552A>G (p.Glu851Gly) | |
| 5 | g.179128024T>G | CA362423085 | ADAMTS2 | c.2552A>C (p.Glu851Ala) | |
| 5 | g.179128025C>A | CA362423088 | ADAMTS2 | c.2551G>T (p.Glu851Ter) | |
| 5 | g.179128025C>G | CA362423091 | ADAMTS2 | c.2551G>C (p.Glu851Gln) | |
| 5 | g.179128025C>T | CA362423093 | ADAMTS2 | c.2551G>A (p.Glu851Lys) | gnomAD v4 |
| 5 | g.179128026T>A | CA362423101 | ADAMTS2 | c.2550A>T (p.Glu850Asp) | |
| 5 | g.179128026T>C | CA448032664 | ADAMTS2 | c.2550A>G (p.Glu850=) | |
| 5 | g.179128026T>G | CA362423103 | ADAMTS2 | c.2550A>C (p.Glu850Asp) | |
| 5 | g.179128027T>A | CA362423111 | ADAMTS2 | c.2549A>T (p.Glu850Val) | |
| 5 | g.179128027T>C | CA362423108 | ADAMTS2 | c.2549A>G (p.Glu850Gly) | |
| 5 | g.179128027T>G | CA362423106 | ADAMTS2 | c.2549A>C (p.Glu850Ala) | |
| 5 | g.179128028C>A | CA362423115 | ADAMTS2 | c.2548G>T (p.Glu850Ter) | |
| 5 | g.179128028C>G | CA362423117 | ADAMTS2 | c.2548G>C (p.Glu850Gln) | |
| 5 | g.179128028C>T | CA362423118 | ADAMTS2 | c.2548G>A (p.Glu850Lys) | dbSNP gnomAD v4 COSMIC |
| 5 | g.179128029C>A | CA448032687 | ADAMTS2 | c.2547G>T (p.Leu849=) | |
| 5 | g.179128029C>G | CA448032690 | ADAMTS2 | c.2547G>C (p.Leu849=) | |
| 5 | g.179128029C>T | CA448032693 | ADAMTS2 | c.2547G>A (p.Leu849=) | ClinVar dbSNP |
| 5 | g.179128030A>C | CA362423121 | ADAMTS2 | c.2546T>G (p.Leu849Arg) | |
| 5 | g.179128030A>G | CA362423122 | ADAMTS2 | c.2546T>C (p.Leu849Pro) | |
| 5 | g.179128030A>T | CA362423123 | ADAMTS2 | c.2546T>A (p.Leu849Gln) | |
| 5 | g.179128031G>A | CA448032706 | ADAMTS2 | c.2545C>T (p.Leu849=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179128031G>C | CA362423124 | ADAMTS2 | c.2545C>G (p.Leu849Val) | |
| 5 | g.179128031G>T | CA362423125 | ADAMTS2 | c.2545C>A (p.Leu849Met) | COSMIC |
| 5 | g.179128032G>A | CA448032714 | ADAMTS2 | c.2544C>T (p.Val848=) | |
| 5 | g.179128032G>C | CA448032718 | ADAMTS2 | c.2544C>G (p.Val848=) | |
| 5 | g.179128032G>T | CA448032721 | ADAMTS2 | c.2544C>A (p.Val848=) | |
| 5 | g.179128033A>C | CA362423127 | ADAMTS2 | c.2543T>G (p.Val848Gly) | |
| 5 | g.179128033A>G | CA362423130 | ADAMTS2 | c.2543T>C (p.Val848Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179128033A>T | CA362423133 | ADAMTS2 | c.2543T>A (p.Val848Asp) |