Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47284412_47284414del | CA2262605257 | ITGB3 | c.362-31_362-29del (n.362-31_362-29del) c.327-31_327-29del | dbSNP gnomAD v4 |
17 | g.47284412A= | CA2262605263 | ITGB3 | c.362-31A= (n.362-31A=) c.327-31A= | |
17 | g.47284412A>G | CA291224626 | ITGB3 | c.362-31A>G (n.362-31A>G) c.327-31A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284412A>T | CA2594684419 | ITGB3 | c.362-31A>T (n.362-31A>T) c.327-31A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284412_47284415delinsAGAT | CA2262605262 | ITGB3 | c.362-31_362-28delinsAGAT (n.362-31_362-28delinsAGAT) c.327-31_327-28delinsAGAT | |
17 | g.47284413G>A | CA8622942 | ITGB3 | c.362-30G>A (n.362-30G>A) c.327-30G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284413G= | CA2262605264 | ITGB3 | c.362-30G= (n.362-30G=) c.327-30G= | |
17 | g.47284413_47284415del | CA8622941 | ITGB3 | c.362-30_362-28del (n.362-30_362-28del) c.327-30_327-28del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47284414A= | CA2262605265 | ITGB3 | c.362-29A= (n.362-29A=) c.327-29A= | |
17 | g.47284414A>C | CA2638435386 | ITGB3 | c.362-29A>C (n.362-29A>C) c.327-29A>C | gnomAD v4 |
17 | g.47284414A>G | CA8622943 | ITGB3 | c.362-29A>G (n.362-29A>G) c.327-29A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284415T>C | CA2638435387 | ITGB3 | c.362-28T>C (n.362-28T>C) c.327-28T>C | gnomAD v4 |
17 | g.47284420dup | CA2576302223 | ITGB3 | c.362-23dup (n.362-23dup) c.327-23dup | |
17 | g.47284420A= | CA2262605266 | ITGB3 | c.362-23A= (n.362-23A=) c.327-23A= | |
17 | g.47284420A>G | CA626378300 | ITGB3 | c.362-23A>G (n.362-23A>G) c.327-23A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284421C>T | CA2638435388 | ITGB3 | c.362-22C>T (n.362-22C>T) c.327-22C>T | gnomAD v4 |
17 | g.47284422T>C | CA291224628 | ITGB3 | c.362-21T>C (n.362-21T>C) c.327-21T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284422T= | CA2262605267 | ITGB3 | c.362-21T= (n.362-21T=) c.327-21T= | |
17 | g.47284423A= | CA2262605268 | ITGB3 | c.362-20A= (n.362-20A=) c.327-20A= | |
17 | g.47284423A>G | CA8622944 | ITGB3 | c.362-20A>G (n.362-20A>G) c.327-20A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284424A= | CA2262605269 | ITGB3 | c.362-19A= (n.362-19A=) c.327-19A= | |
17 | g.47284424A>T | CA291224629 | ITGB3 | c.362-19A>T (n.362-19A>T) c.327-19A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284425C= | CA2262605270 | ITGB3 | c.362-18C= (n.362-18C=) c.327-18C= | |
17 | g.47284425C>T | CA8622945 | ITGB3 | c.362-18C>T (n.362-18C>T) c.327-18C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47284426A>G | CA2516157193 | ITGB3 | c.362-17A>G (n.362-17A>G) c.327-17A>G | |
17 | g.47284427T>C | CA626378302 | ITGB3 | c.362-16T>C (n.362-16T>C) c.327-16T>C | dbSNP gnomAD v2 |
17 | g.47284427T>G | CA2638435389 | ITGB3 | c.362-16T>G (n.362-16T>G) c.327-16T>G | gnomAD v4 |
17 | g.47284427T= | CA2262605271 | ITGB3 | c.362-16T= (n.362-16T=) c.327-16T= | |
17 | g.47284429T>G | CA2638435390 | ITGB3 | c.362-14T>G (n.362-14T>G) c.327-14T>G | gnomAD v4 |
17 | g.47284430T>A | CA2638435391 | ITGB3 | c.362-13T>A (n.362-13T>A) c.327-13T>A | gnomAD v4 |
17 | g.47284432C>G | CA2697560134 | ITGB3 | c.362-11C>G (n.362-11C>G) c.327-11C>G | ClinVar |
17 | g.47284435C>A | CA2638435392 | ITGB3 | c.362-8C>A (n.362-8C>A) c.327-8C>A | gnomAD v4 |
17 | g.47284436C= | CA2262605272 | ITGB3 | c.362-7C= (n.362-7C=) c.327-7C= | |
17 | g.47284436C>T | CA626378305 | ITGB3 | c.362-7C>T (n.362-7C>T) c.327-7C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284439C= | CA2262605273 | ITGB3 | c.362-4C= (n.362-4C=) c.327-4C= | |
17 | g.47284439C>G | CA2262605274 | ITGB3 | c.362-4C>G (n.362-4C>G) c.327-4C>G | dbSNP gnomAD v4 |
17 | g.47284440C= | CA2262605275 | ITGB3 | c.362-3C= (n.362-3C=) c.327-3C= | |
17 | g.47284440C>G | CA8622946 | ITGB3 | c.362-3C>G (n.362-3C>G) c.327-3C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47284441A>C | CA400021512 | ITGB3 | c.362-2A>C (n.362-2A>C) c.327-2A>C | |
17 | g.47284441A>G | CA400021515 | ITGB3 | c.362-2A>G (n.362-2A>G) c.327-2A>G | |
17 | g.47284441A>T | CA400021519 | ITGB3 | c.362-2A>T (n.362-2A>T) c.327-2A>T | |
17 | g.47284442G>A | CA400021523 | ITGB3 | c.362-1G>A (n.362-1G>A) c.327-1G>A | ClinVar dbSNP |
17 | g.47284442G>C | CA400021527 | ITGB3 | c.362-1G>C (n.362-1G>C) c.327-1G>C | |
17 | g.47284442G= | CA2262605276 | ITGB3 | c.362-1G= (n.362-1G=) c.327-1G= | |
17 | g.47284442G>T | CA400021531 | ITGB3 | c.362-1G>T (n.362-1G>T) c.327-1G>T | |
17 | g.47284443A= | CA2262605277 | ITGB3 | c.362A= (p.Asp121=) c.327A= | |
17 | g.47284443A>C | CA400021534 | ITGB3 | c.362A>C (p.Asp121Ala) c.327A>C | |
17 | g.47284443A>G | CA291224632 | ITGB3 | c.362A>G (p.Asp121Gly) c.327A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284443A>T | CA400021532 | ITGB3 | c.362A>T (p.Asp121Val) c.327A>T | |
17 | g.47284444T>A | CA400021536 | ITGB3 | c.363T>A (p.Asp121Glu) c.328T>A | dbSNP |