| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.179130005C>A | CA362423985 | ADAMTS2 | c.2384G>T (p.Trp795Leu) | |
| 5 | g.179130005C>G | CA362423986 | ADAMTS2 | c.2384G>C (p.Trp795Ser) | |
| 5 | g.179130005C>T | CA117558 | ADAMTS2 | c.2384G>A (p.Trp795Ter) | ClinVar dbSNP |
| 5 | g.179130006A>C | CA362423987 | ADAMTS2 | c.2383T>G (p.Trp795Gly) | |
| 5 | g.179130006A>G | CA362423988 | ADAMTS2 | c.2383T>C (p.Trp795Arg) | |
| 5 | g.179130006A>T | CA362423989 | ADAMTS2 | c.2383T>A (p.Trp795Arg) | |
| 5 | g.179130007C>A | CA362423990 | ADAMTS2 | c.2382G>T (p.Glu794Asp) | |
| 5 | g.179130007C>G | CA3595576 | ADAMTS2 | c.2382G>C (p.Glu794Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179130007C>T | CA10624271 | ADAMTS2 | c.2382G>A (p.Glu794=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179130008T>A | CA362423991 | ADAMTS2 | c.2381A>T (p.Glu794Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179130008T>C | CA362423992 | ADAMTS2 | c.2381A>G (p.Glu794Gly) | |
| 5 | g.179130008T>G | CA362423993 | ADAMTS2 | c.2381A>C (p.Glu794Ala) | |
| 5 | g.179130009C>A | CA362423995 | ADAMTS2 | c.2380G>T (p.Glu794Ter) | |
| 5 | g.179130009C>G | CA362423996 | ADAMTS2 | c.2380G>C (p.Glu794Gln) | |
| 5 | g.179130009C>T | CA362423997 | ADAMTS2 | c.2380G>A (p.Glu794Lys) | gnomAD v4 COSMIC |
| 5 | g.179130010C>A | CA448034478 | ADAMTS2 | c.2379G>T (p.Val793=) | |
| 5 | g.179130010C>G | CA448034480 | ADAMTS2 | c.2379G>C (p.Val793=) | |
| 5 | g.179130010C>T | CA448034476 | ADAMTS2 | c.2379G>A (p.Val793=) | dbSNP gnomAD v4 |
| 5 | g.179130011A>C | CA362424000 | ADAMTS2 | c.2378T>G (p.Val793Gly) | |
| 5 | g.179130011A>G | CA362424002 | ADAMTS2 | c.2378T>C (p.Val793Ala) | |
| 5 | g.179130011A>T | CA362424005 | ADAMTS2 | c.2378T>A (p.Val793Glu) | dbSNP |
| 5 | g.179130012C>A | CA362424013 | ADAMTS2 | c.2377G>T (p.Val793Leu) | |
| 5 | g.179130012C>G | CA362424015 | ADAMTS2 | c.2377G>C (p.Val793Leu) | gnomAD v4 |
| 5 | g.179130012C>T | CA3595577 | ADAMTS2 | c.2377G>A (p.Val793Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179130013G>A | CA3595578 | ADAMTS2 | c.2376C>T (p.Gly792=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179130013G>C | CA448034490 | ADAMTS2 | c.2376C>G (p.Gly792=) | |
| 5 | g.179130013G>T | CA448034488 | ADAMTS2 | c.2376C>A (p.Gly792=) | |
| 5 | g.179130014C>A | CA362424022 | ADAMTS2 | c.2375G>T (p.Gly792Val) | |
| 5 | g.179130014C>G | CA362424018 | ADAMTS2 | c.2375G>C (p.Gly792Ala) | |
| 5 | g.179130014C>T | CA362424020 | ADAMTS2 | c.2375G>A (p.Gly792Asp) | gnomAD v4 |
| 5 | g.179130015C>A | CA362424026 | ADAMTS2 | c.2374G>T (p.Gly792Cys) | |
| 5 | g.179130015C>G | CA362424028 | ADAMTS2 | c.2374G>C (p.Gly792Arg) | |
| 5 | g.179130015C>T | CA362424029 | ADAMTS2 | c.2374G>A (p.Gly792Ser) | COSMIC |
| 5 | g.179130016C>A | CA362424031 | ADAMTS2 | c.2373G>T (p.Met791Ile) | dbSNP |
| 5 | g.179130016C>G | CA362424034 | ADAMTS2 | c.2373G>C (p.Met791Ile) | |
| 5 | g.179130016C>T | CA362424036 | ADAMTS2 | c.2373G>A (p.Met791Ile) | |
| 5 | g.179130017del | CA2573139427 | ADAMTS2 | c.2372del (p.Met791ArgfsTer?) | ClinVar dbSNP |
| 5 | g.179130017A>C | CA362424039 | ADAMTS2 | c.2372T>G (p.Met791Arg) | |
| 5 | g.179130017A>G | CA362424041 | ADAMTS2 | c.2372T>C (p.Met791Thr) | gnomAD v4 |
| 5 | g.179130017A>T | CA362424043 | ADAMTS2 | c.2372T>A (p.Met791Lys) | |
| 5 | g.179130018T>A | CA362424044 | ADAMTS2 | c.2371A>T (p.Met791Leu) | |
| 5 | g.179130018T>C | CA3595579 | ADAMTS2 | c.2371A>G (p.Met791Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179130018T>G | CA362424045 | ADAMTS2 | c.2371A>C (p.Met791Leu) | |
| 5 | g.179130019G>A | CA448034511 | ADAMTS2 | c.2370C>T (p.Ala790=) | gnomAD v4 |
| 5 | g.179130019G>C | CA448034512 | ADAMTS2 | c.2370C>G (p.Ala790=) | |
| 5 | g.179130019G>T | CA448034514 | ADAMTS2 | c.2370C>A (p.Ala790=) | |
| 5 | g.179130020G>A | CA362424048 | ADAMTS2 | c.2369C>T (p.Ala790Val) | |
| 5 | g.179130020G>C | CA362424050 | ADAMTS2 | c.2369C>G (p.Ala790Gly) | |
| 5 | g.179130020G>T | CA362424047 | ADAMTS2 | c.2369C>A (p.Ala790Asp) | |
| 5 | g.179130021C>A | CA362424052 | ADAMTS2 | c.2368G>T (p.Ala790Ser) |