Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.191375386T>A | CA142721 | CCDC50 | c.773T>A (p.Ile258Asn) c.449-4773T>A (n.449-4773T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375386T>C | CA355764451 | CCDC50 | c.773T>C (p.Ile258Thr) c.449-4773T>C (n.449-4773T>C) | |
3 | g.191375386T>G | CA2755327 | CCDC50 | c.773T>G (p.Ile258Ser) c.449-4773T>G (n.449-4773T>G) | dbSNP ExAC gnomAD v2 |
3 | g.191375386T= | CA1429222264 | CCDC50 | c.773T= (p.Ile258=) c.449-4773T= (n.449-4773T=) | |
3 | g.191375387T>A | CA437637942 | CCDC50 | c.774T>A (p.Ile258=) c.449-4772T>A (n.449-4772T>A) | |
3 | g.191375387T>C | CA437637943 | CCDC50 | c.774T>C (p.Ile258=) c.449-4772T>C (n.449-4772T>C) | gnomAD v4 |
3 | g.191375387T>G | CA355764452 | CCDC50 | c.774T>G (p.Ile258Met) c.449-4772T>G (n.449-4772T>G) | |
3 | g.191375388A>C | CA355764453 | CCDC50 | c.775A>C (p.Asn259His) c.449-4771A>C (n.449-4771A>C) | |
3 | g.191375388A>G | CA355764454 | CCDC50 | c.775A>G (p.Asn259Asp) c.449-4771A>G (n.449-4771A>G) | |
3 | g.191375388A>T | CA355764455 | CCDC50 | c.775A>T (p.Asn259Tyr) c.449-4771A>T (n.449-4771A>T) | |
3 | g.191375389A= | CA1429222265 | CCDC50 | c.776A= (p.Asn259=) c.449-4770A= (n.449-4770A=) | |
3 | g.191375389A>C | CA355764456 | CCDC50 | c.776A>C (p.Asn259Thr) c.449-4770A>C (n.449-4770A>C) | |
3 | g.191375389A>G | CA355764457 | CCDC50 | c.776A>G (p.Asn259Ser) c.449-4770A>G (n.449-4770A>G) | |
3 | g.191375389A>T | CA355764458 | CCDC50 | c.776A>T (p.Asn259Ile) c.449-4770A>T (n.449-4770A>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375390C>A | CA355764459 | CCDC50 | c.777C>A (p.Asn259Lys) c.449-4769C>A (n.449-4769C>A) | |
3 | g.191375390C>G | CA355764460 | CCDC50 | c.777C>G (p.Asn259Lys) c.449-4769C>G (n.449-4769C>G) | |
3 | g.191375390C>T | CA437637962 | CCDC50 | c.777C>T (p.Asn259=) c.449-4769C>T (n.449-4769C>T) | gnomAD v4 |
3 | g.191375390_191375391insTAAT | CA658820634 | CCDC50 | c.777_778insTAAT (p.His260Ter) c.449-4769_449-4768insTAAT (n.449-4769_449-4768insTAAT) | |
3 | g.191375391C>A | CA355764461 | CCDC50 | c.778C>A (p.His260Asn) c.449-4768C>A (n.449-4768C>A) | |
3 | g.191375391C>G | CA355764462 | CCDC50 | c.778C>G (p.His260Asp) c.449-4768C>G (n.449-4768C>G) | |
3 | g.191375391C>T | CA355764463 | CCDC50 | c.778C>T (p.His260Tyr) c.449-4768C>T (n.449-4768C>T) | gnomAD v4 |
3 | g.191375392A>C | CA355764464 | CCDC50 | c.779A>C (p.His260Pro) c.449-4767A>C (n.449-4767A>C) | gnomAD v4 |
3 | g.191375392A>G | CA355764465 | CCDC50 | c.779A>G (p.His260Arg) c.449-4767A>G (n.449-4767A>G) | gnomAD v4 |
3 | g.191375392A>T | CA355764466 | CCDC50 | c.779A>T (p.His260Leu) c.449-4767A>T (n.449-4767A>T) | |
3 | g.191375393T>A | CA355764467 | CCDC50 | c.780T>A (p.His260Gln) c.449-4766T>A (n.449-4766T>A) | |
3 | g.191375393T>C | CA437637976 | CCDC50 | c.780T>C (p.His260=) c.449-4766T>C (n.449-4766T>C) | |
3 | g.191375393T>G | CA355764468 | CCDC50 | c.780T>G (p.His260Gln) c.449-4766T>G (n.449-4766T>G) | |
3 | g.191375394C>A | CA355764469 | CCDC50 | c.781C>A (p.Gln261Lys) c.449-4765C>A (n.449-4765C>A) | |
3 | g.191375394C>G | CA355764470 | CCDC50 | c.781C>G (p.Gln261Glu) c.449-4765C>G (n.449-4765C>G) | |
3 | g.191375394C>T | CA355764471 | CCDC50 | c.781C>T (p.Gln261Ter) c.449-4765C>T (n.449-4765C>T) | |
3 | g.191375395A= | CA1429222266 | CCDC50 | c.782A= (p.Gln261=) c.449-4764A= (n.449-4764A=) | |
3 | g.191375395A>C | CA355764472 | CCDC50 | c.782A>C (p.Gln261Pro) c.449-4764A>C (n.449-4764A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375395A>G | CA355764473 | CCDC50 | c.782A>G (p.Gln261Arg) c.449-4764A>G (n.449-4764A>G) | gnomAD v4 |
3 | g.191375395A>T | CA355764474 | CCDC50 | c.782A>T (p.Gln261Leu) c.449-4764A>T (n.449-4764A>T) | |
3 | g.191375396G>A | CA437637985 | CCDC50 | c.783G>A (p.Gln261=) c.449-4763G>A (n.449-4763G>A) | dbSNP gnomAD v4 |
3 | g.191375396G>C | CA355764475 | CCDC50 | c.783G>C (p.Gln261His) c.449-4763G>C (n.449-4763G>C) | |
3 | g.191375396G= | CA1429222267 | CCDC50 | c.783G= (p.Gln261=) c.449-4763G= (n.449-4763G=) | |
3 | g.191375396G>T | CA2755328 | CCDC50 | c.783G>T (p.Gln261His) c.449-4763G>T (n.449-4763G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375397A>C | CA355764476 | CCDC50 | c.784A>C (p.Thr262Pro) c.449-4762A>C (n.449-4762A>C) | |
3 | g.191375397A>G | CA355764477 | CCDC50 | c.784A>G (p.Thr262Ala) c.449-4762A>G (n.449-4762A>G) | |
3 | g.191375397A>T | CA355764478 | CCDC50 | c.784A>T (p.Thr262Ser) c.449-4762A>T (n.449-4762A>T) | |
3 | g.191375397_191375398insTAGAGCTTGACTGG | CA2669072418 | CCDC50 | c.784_785insTAGAGCTTGACTGG (p.Thr262IlefsTer?) c.449-4762_449-4761insTAGAGCTTGACTGG (n.449-4762_449-4761insTAGAGCTTGACTGG) | gnomAD v4 |
3 | g.191375398C>A | CA355764479 | CCDC50 | c.785C>A (p.Thr262Asn) c.449-4761C>A (n.449-4761C>A) | gnomAD v4 |
3 | g.191375398C>G | CA355764480 | CCDC50 | c.785C>G (p.Thr262Ser) c.449-4761C>G (n.449-4761C>G) | gnomAD v4 |
3 | g.191375398C>T | CA355764481 | CCDC50 | c.785C>T (p.Thr262Ile) c.449-4761C>T (n.449-4761C>T) | |
3 | g.191375399T>A | CA437637999 | CCDC50 | c.786T>A (p.Thr262=) c.449-4760T>A (n.449-4760T>A) | |
3 | g.191375399T>C | CA437638000 | CCDC50 | c.786T>C (p.Thr262=) c.449-4760T>C (n.449-4760T>C) | |
3 | g.191375399T>G | CA437638002 | CCDC50 | c.786T>G (p.Thr262=) c.449-4760T>G (n.449-4760T>G) | gnomAD v4 |
3 | g.191375400C>A | CA437638003 | CCDC50 | c.787C>A (p.Arg263=) c.449-4759C>A (n.449-4759C>A) | |
3 | g.191375400C= | CA1429222268 | CCDC50 | c.787C= (p.Arg263=) c.449-4759C= (n.449-4759C=) |