Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.117439681_117439701dup | CA2066046250 | NOS1 | n.470+12008_470+12028dup | dbSNP |
12 | g.117439680C>A | CA2580602343 | NOS1 | n.470+12021G>T | |
12 | g.117439680C= | CA2066046273 | NOS1 | n.470+12021G= | |
12 | g.117439680C>G | CA2580602342 | NOS1 | n.470+12021G>C | |
12 | g.117439680C>T | CA210712 | NOS1 | n.470+12021G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.117439681G>A | CA245041539 | NOS1 | n.470+12020C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.117439681G= | CA2066046280 | NOS1 | n.470+12020C= | |
12 | g.117439681G>T | CA2066046285 | NOS1 | n.470+12020C>A | dbSNP |
12 | g.117439682G>A | CA245041540 | NOS1 | n.470+12019C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.117439682G= | CA2066046287 | NOS1 | n.470+12019C= | |
12 | g.117439682G>T | CA607800319 | NOS1 | n.470+12019C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.117439685C>A | CA245041541 | NOS1 | n.470+12016G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.117439685C= | CA2066046296 | NOS1 | n.470+12016G= | |
12 | g.117439685C>T | CA684138770 | NOS1 | n.470+12016G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.117439688C= | CA2066046300 | NOS1 | n.470+12013G= | |
12 | g.117439688C>T | CA684138771 | NOS1 | n.470+12013G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.117439688_117439689insGG | CA2541801592 | NOS1 | n.470+12012_470+12013insCC | |
12 | g.117439689T>C | CA607800320 | NOS1 | n.470+12012A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.117439689T>G | CA2529034980 | NOS1 | n.470+12012A>C | |
12 | g.117439689T= | CA2066046301 | NOS1 | n.470+12012A= | |
12 | g.117439690G>A | CA245041542 | NOS1 | n.470+12011C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.117439690G= | CA2066046304 | NOS1 | n.470+12011C= | |
12 | g.117439692G>A | CA2066046306 | NOS1 | n.470+12009C>T | dbSNP |
12 | g.117439692G= | CA2066046305 | NOS1 | n.470+12009C= | |
12 | g.117439693T>C | CA2526299431 | NOS1 | n.470+12008A>G | |
12 | g.117439693T>G | CA245041543 | NOS1 | n.470+12008A>C | dbSNP |
12 | g.117439693T= | CA2066046308 | NOS1 | n.470+12008A= | |
12 | g.117439695G>A | CA2066046316 | NOS1 | n.470+12006C>T | dbSNP |
12 | g.117439695G= | CA2066046313 | NOS1 | n.470+12006C= | |
12 | g.117439697G>A | CA952313446 | NOS1 | n.470+12004C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.117439697G= | CA2066046317 | NOS1 | n.470+12004C= | |
12 | g.117439700G>A | CA2066046320 | NOS1 | n.470+12001C>T | dbSNP |
12 | g.117439700G= | CA2066046324 | NOS1 | n.470+12001C= | |
12 | g.117439702C= | CA2066046327 | NOS1 | n.470+11999G= | |
12 | g.117439702C>T | CA2066046328 | NOS1 | n.470+11999G>A | dbSNP |
12 | g.117439705G>A | CA2539589045 | NOS1 | n.470+11996C>T | |
12 | g.117439705G= | CA2066046331 | NOS1 | n.470+11996C= | |
12 | g.117439705G>T | CA952313449 | NOS1 | n.470+11996C>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.117439705_117439706delinsGC | CA2066046330 | NOS1 | n.470+11995_470+11996delinsGC | |
12 | g.117439706C>A | CA2066046337 | NOS1 | n.470+11995G>T | dbSNP |
12 | g.117439706C= | CA2066046335 | NOS1 | n.470+11995G= | |
12 | g.117439706C>G | CA607800321 | NOS1 | n.470+11995G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.117439707del | CA245041544 | NOS1 | n.470+11995del | dbSNP |
12 | g.117439708T>A | CA655345831 | NOS1 | n.470+11993A>T | COSMIC |
12 | g.117439708T>C | CA2529944065 | NOS1 | n.470+11993A>G | |
12 | g.117439711G>C | CA2066046347 | NOS1 | n.470+11990C>G | dbSNP |
12 | g.117439711G= | CA2066046341 | NOS1 | n.470+11990C= | |
12 | g.117439713_117439714delinsCA | CA2066046348 | NOS1 | n.470+11987_470+11988delinsTG | |
12 | g.117439714del | CA684138796 | NOS1 | n.470+11987del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.117439714A= | CA2066046350 | NOS1 | n.470+11987T= |