Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
3 | g.191375400C>G | CA89778694 | CCDC50 | c.787C>G (p.Arg263Gly) c.449-4759C>G (n.449-4759C>G) | dbSNP gnomAD v4 COSMIC |
3 | g.191375400C>T | CA2755329 | CCDC50 | c.787C>T (p.Arg263Ter) c.449-4759C>T (n.449-4759C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375401G>A | CA355764482 | CCDC50 | c.788G>A (p.Arg263Gln) c.449-4758G>A (n.449-4758G>A) | dbSNP gnomAD v4 COSMIC |
3 | g.191375401G>C | CA2755330 | CCDC50 | c.788G>C (p.Arg263Pro) c.449-4758G>C (n.449-4758G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375401G= | CA1429222269 | CCDC50 | c.788G= (p.Arg263=) c.449-4758G= (n.449-4758G=) | |
3 | g.191375401G>T | CA355764483 | CCDC50 | c.788G>T (p.Arg263Leu) c.449-4758G>T (n.449-4758G>T) | |
3 | g.191375402A>C | CA437638011 | CCDC50 | c.789A>C (p.Arg263=) c.449-4757A>C (n.449-4757A>C) | |
3 | g.191375402A>G | CA437638008 | CCDC50 | c.789A>G (p.Arg263=) c.449-4757A>G (n.449-4757A>G) | |
3 | g.191375402A>T | CA437638010 | CCDC50 | c.789A>T (p.Arg263=) c.449-4757A>T (n.449-4757A>T) | gnomAD v4 |
3 | g.191375403A>C | CA355764484 | CCDC50 | c.790A>C (p.Asn264His) c.449-4756A>C (n.449-4756A>C) | |
3 | g.191375403A>G | CA355764485 | CCDC50 | c.790A>G (p.Asn264Asp) c.449-4756A>G (n.449-4756A>G) | |
3 | g.191375403A>T | CA355764486 | CCDC50 | c.790A>T (p.Asn264Tyr) c.449-4756A>T (n.449-4756A>T) | |
3 | g.191375404A= | CA1429222270 | CCDC50 | c.791A= (p.Asn264=) c.449-4755A= (n.449-4755A=) | |
3 | g.191375404A>C | CA355764487 | CCDC50 | c.791A>C (p.Asn264Thr) c.449-4755A>C (n.449-4755A>C) | |
3 | g.191375404A>G | CA2755331 | CCDC50 | c.791A>G (p.Asn264Ser) c.449-4755A>G (n.449-4755A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375404A>T | CA355764488 | CCDC50 | c.791A>T (p.Asn264Ile) c.449-4755A>T (n.449-4755A>T) | |
3 | g.191375405T>A | CA355764489 | CCDC50 | c.792T>A (p.Asn264Lys) c.449-4754T>A (n.449-4754T>A) | |
3 | g.191375405T>C | CA437638019 | CCDC50 | c.792T>C (p.Asn264=) c.449-4754T>C (n.449-4754T>C) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.191375405T>G | CA355764490 | CCDC50 | c.792T>G (p.Asn264Lys) c.449-4754T>G (n.449-4754T>G) | |
3 | g.191375405T= | CA1429222271 | CCDC50 | c.792T= (p.Asn264=) c.449-4754T= (n.449-4754T=) | |
3 | g.191375406T>A | CA355764491 | CCDC50 | c.793T>A (p.Trp265Arg) c.449-4753T>A (n.449-4753T>A) | |
3 | g.191375406T>C | CA355764492 | CCDC50 | c.793T>C (p.Trp265Arg) c.449-4753T>C (n.449-4753T>C) | |
3 | g.191375406T>G | CA355764493 | CCDC50 | c.793T>G (p.Trp265Gly) c.449-4753T>G (n.449-4753T>G) | |
3 | g.191375407G>A | CA355764496 | CCDC50 | c.794G>A (p.Trp265Ter) c.449-4752G>A (n.449-4752G>A) | |
3 | g.191375407G>C | CA355764495 | CCDC50 | c.794G>C (p.Trp265Ser) c.449-4752G>C (n.449-4752G>C) | |
3 | g.191375407G>T | CA355764494 | CCDC50 | c.794G>T (p.Trp265Leu) c.449-4752G>T (n.449-4752G>T) | |
3 | g.191375408G>A | CA355764497 | CCDC50 | c.795G>A (p.Trp265Ter) c.449-4751G>A (n.449-4751G>A) | dbSNP |
3 | g.191375408G>C | CA355764498 | CCDC50 | c.795G>C (p.Trp265Cys) c.449-4751G>C (n.449-4751G>C) | |
3 | g.191375408G= | CA1429222272 | CCDC50 | c.795G= (p.Trp265=) c.449-4751G= (n.449-4751G=) | |
3 | g.191375408G>T | CA355764499 | CCDC50 | c.795G>T (p.Trp265Cys) c.449-4751G>T (n.449-4751G>T) | |
3 | g.191375409G>A | CA355764500 | CCDC50 | c.796G>A (p.Glu266Lys) c.449-4750G>A (n.449-4750G>A) | gnomAD v4 |
3 | g.191375409G>C | CA2755332 | CCDC50 | c.796G>C (p.Glu266Gln) c.449-4750G>C (n.449-4750G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375409G= | CA1429222273 | CCDC50 | c.796G= (p.Glu266=) c.449-4750G= (n.449-4750G=) | |
3 | g.191375409G>T | CA355764501 | CCDC50 | c.796G>T (p.Glu266Ter) c.449-4750G>T (n.449-4750G>T) | gnomAD v4 |
3 | g.191375409_191375411delinsGAA | CA1429222274 | CCDC50 | c.796_798delinsGAA (p.Glu266=) c.449-4750_449-4748delinsGAA (n.449-4750_449-4748delinsGAA) | |
3 | g.191375410A= | CA1429222275 | CCDC50 | c.797A= (p.Glu266=) c.449-4749A= (n.449-4749A=) | |
3 | g.191375410A>C | CA355764502 | CCDC50 | c.797A>C (p.Glu266Ala) c.449-4749A>C (n.449-4749A>C) | |
3 | g.191375410A>G | CA89778698 | CCDC50 | c.797A>G (p.Glu266Gly) c.449-4749A>G (n.449-4749A>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.191375410A>T | CA355764503 | CCDC50 | c.797A>T (p.Glu266Val) c.449-4749A>T (n.449-4749A>T) | |
3 | g.191375413_191375414del | CA904369061 | CCDC50 | c.800_801del (p.Lys267ThrfsTer?) c.449-4746_449-4745del (n.449-4746_449-4745del) | dbSNP gnomAD v4 |
3 | g.191375411A>C | CA355764504 | CCDC50 | c.798A>C (p.Glu266Asp) c.449-4748A>C (n.449-4748A>C) | |
3 | g.191375411A>G | CA437638034 | CCDC50 | c.798A>G (p.Glu266=) c.449-4748A>G (n.449-4748A>G) | |
3 | g.191375411A>T | CA355764505 | CCDC50 | c.798A>T (p.Glu266Asp) c.449-4748A>T (n.449-4748A>T) | gnomAD v4 |
3 | g.191375412A= | CA1429222276 | CCDC50 | c.799A= (p.Lys267=) c.449-4747A= (n.449-4747A=) | |
3 | g.191375412A>C | CA355764506 | CCDC50 | c.799A>C (p.Lys267Gln) c.449-4747A>C (n.449-4747A>C) | |
3 | g.191375412A>G | CA355764507 | CCDC50 | c.799A>G (p.Lys267Glu) c.449-4747A>G (n.449-4747A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375412A>T | CA355764508 | CCDC50 | c.799A>T (p.Lys267Ter) c.449-4747A>T (n.449-4747A>T) | |
3 | g.191375413A= | CA1429222277 | CCDC50 | c.800A= (p.Lys267=) c.449-4746A= (n.449-4746A=) | |
3 | g.191375413A>C | CA355764509 | CCDC50 | c.800A>C (p.Lys267Thr) c.449-4746A>C (n.449-4746A>C) | |
3 | g.191375413A>G | CA2755333 | CCDC50 | c.800A>G (p.Lys267Arg) c.449-4746A>G (n.449-4746A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375413A>T | CA355764510 | CCDC50 | c.800A>T (p.Lys267Ile) c.449-4746A>T (n.449-4746A>T) | |
3 | g.191375414A>C | CA355764511 | CCDC50 | c.801A>C (p.Lys267Asn) c.449-4745A>C (n.449-4745A>C) | |
3 | g.191375414A>G | CA437638047 | CCDC50 | c.801A>G (p.Lys267=) c.449-4745A>G (n.449-4745A>G) | |
3 | g.191375414A>T | CA355764512 | CCDC50 | c.801A>T (p.Lys267Asn) c.449-4745A>T (n.449-4745A>T) | |
3 | g.191375415_191375416del | CA2669072421 | CCDC50 | c.802_803del (p.Gln268ValfsTer?) c.449-4744_449-4743del (n.449-4744_449-4743del) | gnomAD v4 |
3 | g.191375415C>A | CA355764513 | CCDC50 | c.802C>A (p.Gln268Lys) c.449-4744C>A (n.449-4744C>A) | gnomAD v4 |
3 | g.191375415C= | CA1429222278 | CCDC50 | c.802C= (p.Gln268=) c.449-4744C= (n.449-4744C=) | |
3 | g.191375415C>G | CA355764515 | CCDC50 | c.802C>G (p.Gln268Glu) c.449-4744C>G (n.449-4744C>G) | gnomAD v4 |
3 | g.191375415C>T | CA355764514 | CCDC50 | c.802C>T (p.Gln268Ter) c.449-4744C>T (n.449-4744C>T) | gnomAD v4 |
3 | g.191375416A= | CA1429222279 | CCDC50 | c.803A= (p.Gln268=) c.449-4743A= (n.449-4743A=) | |
3 | g.191375416A>C | CA355764517 | CCDC50 | c.803A>C (p.Gln268Pro) c.449-4743A>C (n.449-4743A>C) | |
3 | g.191375416A>G | CA2755335 | CCDC50 | c.803A>G (p.Gln268Arg) c.449-4743A>G (n.449-4743A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375416A>T | CA355764516 | CCDC50 | c.803A>T (p.Gln268Leu) c.449-4743A>T (n.449-4743A>T) | |
3 | g.191375416dup | CA2755334 | CCDC50 | c.803dup (p.Ser269ValfsTer?) c.449-4743dup (n.449-4743dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375417G>A | CA10576612 | CCDC50 | c.804G>A (p.Gln268=) c.449-4742G>A (n.449-4742G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.191375417G>C | CA355764518 | CCDC50 | c.804G>C (p.Gln268His) c.449-4742G>C (n.449-4742G>C) | |
3 | g.191375417G= | CA1429222280 | CCDC50 | c.804G= (p.Gln268=) c.449-4742G= (n.449-4742G=) | |
3 | g.191375417G>T | CA355764519 | CCDC50 | c.804G>T (p.Gln268His) c.449-4742G>T (n.449-4742G>T) | |
3 | g.191375418T>A | CA355764520 | CCDC50 | c.805T>A (p.Ser269Thr) c.449-4741T>A (n.449-4741T>A) | |
3 | g.191375418T>C | CA355764521 | CCDC50 | c.805T>C (p.Ser269Pro) c.449-4741T>C (n.449-4741T>C) | gnomAD v4 |
3 | g.191375418T>G | CA355764522 | CCDC50 | c.805T>G (p.Ser269Ala) c.449-4741T>G (n.449-4741T>G) | |
3 | g.191375419C>A | CA355764523 | CCDC50 | c.806C>A (p.Ser269Tyr) c.449-4740C>A (n.449-4740C>A) | |
3 | g.191375419C>G | CA355764524 | CCDC50 | c.806C>G (p.Ser269Cys) c.449-4740C>G (n.449-4740C>G) | gnomAD v4 |
3 | g.191375419C>T | CA355764525 | CCDC50 | c.806C>T (p.Ser269Phe) c.449-4740C>T (n.449-4740C>T) | |
3 | g.191375420T>A | CA437638065 | CCDC50 | c.807T>A (p.Ser269=) c.449-4739T>A (n.449-4739T>A) | |
3 | g.191375420T>C | CA437638066 | CCDC50 | c.807T>C (p.Ser269=) c.449-4739T>C (n.449-4739T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375420T>G | CA437638068 | CCDC50 | c.807T>G (p.Ser269=) c.449-4739T>G (n.449-4739T>G) | |
3 | g.191375420T= | CA1429222281 | CCDC50 | c.807T= (p.Ser269=) c.449-4739T= (n.449-4739T=) | |
3 | g.191375421C>A | CA437638069 | CCDC50 | c.808C>A (p.Arg270=) c.449-4738C>A (n.449-4738C>A) | |
3 | g.191375421C= | CA1429222282 | CCDC50 | c.808C= (p.Arg270=) c.449-4738C= (n.449-4738C=) | |
3 | g.191375421C>G | CA2755337 | CCDC50 | c.808C>G (p.Arg270Gly) c.449-4738C>G (n.449-4738C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375421C>T | CA2755336 | CCDC50 | c.808C>T (p.Arg270Ter) c.449-4738C>T (n.449-4738C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375422G>A | CA355764526 | CCDC50 | c.809G>A (p.Arg270Gln) c.449-4737G>A (n.449-4737G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.191375422G>C | CA355764527 | CCDC50 | c.809G>C (p.Arg270Pro) c.449-4737G>C (n.449-4737G>C) | |
3 | g.191375422G= | CA1429222283 | CCDC50 | c.809G= (p.Arg270=) c.449-4737G= (n.449-4737G=) | |
3 | g.191375422G>T | CA355764528 | CCDC50 | c.809G>T (p.Arg270Leu) c.449-4737G>T (n.449-4737G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375423A>C | CA437638075 | CCDC50 | c.810A>C (p.Arg270=) c.449-4736A>C (n.449-4736A>C) | |
3 | g.191375423A>G | CA437638076 | CCDC50 | c.810A>G (p.Arg270=) c.449-4736A>G (n.449-4736A>G) | |
3 | g.191375423A>T | CA437638077 | CCDC50 | c.810A>T (p.Arg270=) c.449-4736A>T (n.449-4736A>T) | |
3 | g.191375424C>A | CA355764530 | CCDC50 | c.811C>A (p.His271Asn) c.449-4735C>A (n.449-4735C>A) | |
3 | g.191375424C= | CA1429222284 | CCDC50 | c.811C= (p.His271=) c.449-4735C= (n.449-4735C=) | |
3 | g.191375424C>G | CA355764529 | CCDC50 | c.811C>G (p.His271Asp) c.449-4735C>G (n.449-4735C>G) | |
3 | g.191375424C>T | CA2755338 | CCDC50 | c.811C>T (p.His271Tyr) c.449-4735C>T (n.449-4735C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375425A>C | CA355764531 | CCDC50 | c.812A>C (p.His271Pro) c.449-4734A>C (n.449-4734A>C) | |
3 | g.191375425A>G | CA355764532 | CCDC50 | c.812A>G (p.His271Arg) c.449-4734A>G (n.449-4734A>G) | gnomAD v4 |
3 | g.191375425A>T | CA355764533 | CCDC50 | c.812A>T (p.His271Leu) c.449-4734A>T (n.449-4734A>T) | |
3 | g.191375426C>A | CA355764534 | CCDC50 | c.813C>A (p.His271Gln) c.449-4733C>A (n.449-4733C>A) | |
3 | g.191375426C= | CA1429222285 | CCDC50 | c.813C= (p.His271=) c.449-4733C= (n.449-4733C=) | |
3 | g.191375426C>G | CA355764535 | CCDC50 | c.813C>G (p.His271Gln) c.449-4733C>G (n.449-4733C>G) | |
3 | g.191375426C>T | CA2755339 | CCDC50 | c.813C>T (p.His271=) c.449-4733C>T (n.449-4733C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375427C>A | CA355764536 | CCDC50 | c.814C>A (p.Gln272Lys) c.449-4732C>A (n.449-4732C>A) | |
3 | g.191375427C= | CA1429222286 | CCDC50 | c.814C= (p.Gln272=) c.449-4732C= (n.449-4732C=) | |
3 | g.191375427C>G | CA355764537 | CCDC50 | c.814C>G (p.Gln272Glu) c.449-4732C>G (n.449-4732C>G) | |
3 | g.191375427C>T | CA355764538 | CCDC50 | c.814C>T (p.Gln272Ter) c.449-4732C>T (n.449-4732C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375428A>C | CA355764539 | CCDC50 | c.815A>C (p.Gln272Pro) c.449-4731A>C (n.449-4731A>C) | |
3 | g.191375428A>G | CA355764540 | CCDC50 | c.815A>G (p.Gln272Arg) c.449-4731A>G (n.449-4731A>G) | gnomAD v4 |
3 | g.191375428A>T | CA355764541 | CCDC50 | c.815A>T (p.Gln272Leu) c.449-4731A>T (n.449-4731A>T) | |
3 | g.191375429A>C | CA355764542 | CCDC50 | c.816A>C (p.Gln272His) c.449-4730A>C (n.449-4730A>C) | |
3 | g.191375429A>G | CA437638090 | CCDC50 | c.816A>G (p.Gln272=) c.449-4730A>G (n.449-4730A>G) | |
3 | g.191375429A>T | CA355764543 | CCDC50 | c.816A>T (p.Gln272His) c.449-4730A>T (n.449-4730A>T) | gnomAD v4 |
3 | g.191375430G>A | CA355764544 | CCDC50 | c.817G>A (p.Asp273Asn) c.449-4729G>A (n.449-4729G>A) | dbSNP gnomAD v4 |
3 | g.191375430G>C | CA355764545 | CCDC50 | c.817G>C (p.Asp273His) c.449-4729G>C (n.449-4729G>C) | |
3 | g.191375430G= | CA1429222287 | CCDC50 | c.817G= (p.Asp273=) c.449-4729G= (n.449-4729G=) | |
3 | g.191375430G>T | CA89778704 | CCDC50 | c.817G>T (p.Asp273Tyr) c.449-4729G>T (n.449-4729G>T) | dbSNP |
3 | g.191375431A>C | CA355764546 | CCDC50 | c.818A>C (p.Asp273Ala) c.449-4728A>C (n.449-4728A>C) | |
3 | g.191375431A>G | CA355764547 | CCDC50 | c.818A>G (p.Asp273Gly) c.449-4728A>G (n.449-4728A>G) | |
3 | g.191375431A>T | CA355764548 | CCDC50 | c.818A>T (p.Asp273Val) c.449-4728A>T (n.449-4728A>T) | |
3 | g.191375432T>A | CA355764549 | CCDC50 | c.819T>A (p.Asp273Glu) c.449-4727T>A (n.449-4727T>A) | |
3 | g.191375432T>C | CA437638102 | CCDC50 | c.819T>C (p.Asp273=) c.449-4727T>C (n.449-4727T>C) | |
3 | g.191375432T>G | CA355764550 | CCDC50 | c.819T>G (p.Asp273Glu) c.449-4727T>G (n.449-4727T>G) | |
3 | g.191375433C>A | CA437638103 | CCDC50 | c.820C>A (p.Arg274=) c.449-4726C>A (n.449-4726C>A) | gnomAD v4 |
3 | g.191375433C= | CA1429222288 | CCDC50 | c.820C= (p.Arg274=) c.449-4726C= (n.449-4726C=) | |
3 | g.191375433C>G | CA355764551 | CCDC50 | c.820C>G (p.Arg274Gly) c.449-4726C>G (n.449-4726C>G) | ClinVar dbSNP gnomAD v4 |
3 | g.191375433C>T | CA89778705 | CCDC50 | c.820C>T (p.Arg274Ter) c.449-4726C>T (n.449-4726C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375434G>A | CA2755340 | CCDC50 | c.821G>A (p.Arg274Gln) c.449-4725G>A (n.449-4725G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375434G>C | CA355764554 | CCDC50 | c.821G>C (p.Arg274Pro) c.449-4725G>C (n.449-4725G>C) | |
3 | g.191375434G= | CA1429222289 | CCDC50 | c.821G= (p.Arg274=) c.449-4725G= (n.449-4725G=) | |
3 | g.191375434G>T | CA355764556 | CCDC50 | c.821G>T (p.Arg274Leu) c.449-4725G>T (n.449-4725G>T) | dbSNP |
3 | g.191375435A>C | CA437638110 | CCDC50 | c.822A>C (p.Arg274=) c.449-4724A>C (n.449-4724A>C) | |
3 | g.191375435A>G | CA437638113 | CCDC50 | c.822A>G (p.Arg274=) c.449-4724A>G (n.449-4724A>G) | |
3 | g.191375435A>T | CA437638111 | CCDC50 | c.822A>T (p.Arg274=) c.449-4724A>T (n.449-4724A>T) | |
3 | g.191375436C>A | CA355764562 | CCDC50 | c.823C>A (p.Leu275Ile) c.449-4723C>A (n.449-4723C>A) | |
3 | g.191375436C>G | CA355764559 | CCDC50 | c.823C>G (p.Leu275Val) c.449-4723C>G (n.449-4723C>G) | |
3 | g.191375436C>T | CA355764561 | CCDC50 | c.823C>T (p.Leu275Phe) c.449-4723C>T (n.449-4723C>T) | gnomAD v4 |
3 | g.191375437T>A | CA355764564 | CCDC50 | c.824T>A (p.Leu275His) c.449-4722T>A (n.449-4722T>A) | |
3 | g.191375437T>C | CA355764566 | CCDC50 | c.824T>C (p.Leu275Pro) c.449-4722T>C (n.449-4722T>C) | dbSNP |
3 | g.191375437T>G | CA355764568 | CCDC50 | c.824T>G (p.Leu275Arg) c.449-4722T>G (n.449-4722T>G) | |
3 | g.191375437T= | CA1429222290 | CCDC50 | c.824T= (p.Leu275=) c.449-4722T= (n.449-4722T=) | |
3 | g.191375438T>A | CA437638121 | CCDC50 | c.825T>A (p.Leu275=) c.449-4721T>A (n.449-4721T>A) | |
3 | g.191375438T>C | CA437638124 | CCDC50 | c.825T>C (p.Leu275=) c.449-4721T>C (n.449-4721T>C) | |
3 | g.191375438T>G | CA437638127 | CCDC50 | c.825T>G (p.Leu275=) c.449-4721T>G (n.449-4721T>G) | |
3 | g.191375439T>A | CA355764570 | CCDC50 | c.826T>A (p.Ser276Thr) c.449-4720T>A (n.449-4720T>A) | |
3 | g.191375439T>C | CA355764571 | CCDC50 | c.826T>C (p.Ser276Pro) c.449-4720T>C (n.449-4720T>C) | |
3 | g.191375439T>G | CA355764573 | CCDC50 | c.826T>G (p.Ser276Ala) c.449-4720T>G (n.449-4720T>G) | |
3 | g.191375440C>A | CA355764576 | CCDC50 | c.827C>A (p.Ser276Ter) c.449-4719C>A (n.449-4719C>A) | gnomAD v4 |
3 | g.191375440C= | CA1429222291 | CCDC50 | c.827C= (p.Ser276=) c.449-4719C= (n.449-4719C=) | |
3 | g.191375440C>G | CA2755341 | CCDC50 | c.827C>G (p.Ser276Ter) c.449-4719C>G (n.449-4719C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375440C>T | CA355764579 | CCDC50 | c.827C>T (p.Ser276Leu) c.449-4719C>T (n.449-4719C>T) | gnomAD v4 |
3 | g.191375441A>C | CA437638134 | CCDC50 | c.828A>C (p.Ser276=) c.449-4718A>C (n.449-4718A>C) | |
3 | g.191375441A>G | CA437638138 | CCDC50 | c.828A>G (p.Ser276=) c.449-4718A>G (n.449-4718A>G) | |
3 | g.191375441A>T | CA437638141 | CCDC50 | c.828A>T (p.Ser276=) c.449-4718A>T (n.449-4718A>T) | |
3 | g.191375442C>A | CA355764581 | CCDC50 | c.829C>A (p.Pro277Thr) c.449-4717C>A (n.449-4717C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375442C= | CA1429222292 | CCDC50 | c.829C= (p.Pro277=) c.449-4717C= (n.449-4717C=) | |
3 | g.191375442C>G | CA355764583 | CCDC50 | c.829C>G (p.Pro277Ala) c.449-4717C>G (n.449-4717C>G) | |
3 | g.191375442C>T | CA355764585 | CCDC50 | c.829C>T (p.Pro277Ser) c.449-4717C>T (n.449-4717C>T) | gnomAD v4 |
3 | g.191375443C>A | CA355764587 | CCDC50 | c.830C>A (p.Pro277His) c.449-4716C>A (n.449-4716C>A) | dbSNP gnomAD v4 |
3 | g.191375443C= | CA1429222293 | CCDC50 | c.830C= (p.Pro277=) c.449-4716C= (n.449-4716C=) | |
3 | g.191375443C>G | CA355764590 | CCDC50 | c.830C>G (p.Pro277Arg) c.449-4716C>G (n.449-4716C>G) | gnomAD v4 |
3 | g.191375443C>T | CA355764589 | CCDC50 | c.830C>T (p.Pro277Leu) c.449-4716C>T (n.449-4716C>T) | |
3 | g.191375444C>A | CA437638143 | CCDC50 | c.831C>A (p.Pro277=) c.449-4715C>A (n.449-4715C>A) | |
3 | g.191375444C>G | CA437638144 | CCDC50 | c.831C>G (p.Pro277=) c.449-4715C>G (n.449-4715C>G) | |
3 | g.191375444C>T | CA437638146 | CCDC50 | c.831C>T (p.Pro277=) c.449-4715C>T (n.449-4715C>T) | COSMIC |
3 | g.191375445A>C | CA355764593 | CCDC50 | c.832A>C (p.Lys278Gln) c.449-4714A>C (n.449-4714A>C) | |
3 | g.191375445A>G | CA355764594 | CCDC50 | c.832A>G (p.Lys278Glu) c.449-4714A>G (n.449-4714A>G) | |
3 | g.191375445A>T | CA355764596 | CCDC50 | c.832A>T (p.Lys278Ter) c.449-4714A>T (n.449-4714A>T) | |
3 | g.191375446A>C | CA355764599 | CCDC50 | c.833A>C (p.Lys278Thr) c.449-4713A>C (n.449-4713A>C) | |
3 | g.191375446A>G | CA355764600 | CCDC50 | c.833A>G (p.Lys278Arg) c.449-4713A>G (n.449-4713A>G) | |
3 | g.191375446A>T | CA355764603 | CCDC50 | c.833A>T (p.Lys278Met) c.449-4713A>T (n.449-4713A>T) | |
3 | g.191375447G>A | CA437638153 | CCDC50 | c.834G>A (p.Lys278=) c.449-4712G>A (n.449-4712G>A) | |
3 | g.191375447G>C | CA355764605 | CCDC50 | c.834G>C (p.Lys278Asn) c.449-4712G>C (n.449-4712G>C) | |
3 | g.191375447G= | CA1429222294 | CCDC50 | c.834G= (p.Lys278=) c.449-4712G= (n.449-4712G=) | |
3 | g.191375447G>T | CA355764607 | CCDC50 | c.834G>T (p.Lys278Asn) c.449-4712G>T (n.449-4712G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375448T>A | CA355764609 | CCDC50 | c.835T>A (p.Ser279Thr) c.449-4711T>A (n.449-4711T>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.191375448T>C | CA355764613 | CCDC50 | c.835T>C (p.Ser279Pro) c.449-4711T>C (n.449-4711T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375448T>G | CA355764611 | CCDC50 | c.835T>G (p.Ser279Ala) c.449-4711T>G (n.449-4711T>G) | |
3 | g.191375448T= | CA1429222295 | CCDC50 | c.835T= (p.Ser279=) c.449-4711T= (n.449-4711T=) | |
3 | g.191375449C>A | CA355764615 | CCDC50 | c.836C>A (p.Ser279Tyr) c.449-4710C>A (n.449-4710C>A) | |
3 | g.191375449C>G | CA355764618 | CCDC50 | c.836C>G (p.Ser279Cys) c.449-4710C>G (n.449-4710C>G) | |
3 | g.191375449C>T | CA355764620 | CCDC50 | c.836C>T (p.Ser279Phe) c.449-4710C>T (n.449-4710C>T) | COSMIC |
3 | g.191375450C>A | CA437638170 | CCDC50 | c.837C>A (p.Ser279=) c.449-4709C>A (n.449-4709C>A) | |
3 | g.191375450C= | CA1429222296 | CCDC50 | c.837C= (p.Ser279=) c.449-4709C= (n.449-4709C=) | |
3 | g.191375450C>G | CA2755342 | CCDC50 | c.837C>G (p.Ser279=) c.449-4709C>G (n.449-4709C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375450C>T | CA437638168 | CCDC50 | c.837C>T (p.Ser279=) c.449-4709C>T (n.449-4709C>T) | gnomAD v4 |
3 | g.191375451T>A | CA355764622 | CCDC50 | c.838T>A (p.Ser280Thr) c.449-4708T>A (n.449-4708T>A) | dbSNP |
3 | g.191375451T>C | CA355764627 | CCDC50 | c.838T>C (p.Ser280Pro) c.449-4708T>C (n.449-4708T>C) | gnomAD v4 |
3 | g.191375451T>G | CA355764624 | CCDC50 | c.838T>G (p.Ser280Ala) c.449-4708T>G (n.449-4708T>G) | |
3 | g.191375451T= | CA1429222297 | CCDC50 | c.838T= (p.Ser280=) c.449-4708T= (n.449-4708T=) | |
3 | g.191375452C>A | CA355764629 | CCDC50 | c.839C>A (p.Ser280Ter) c.449-4707C>A (n.449-4707C>A) | |
3 | g.191375452C>G | CA355764631 | CCDC50 | c.839C>G (p.Ser280Ter) c.449-4707C>G (n.449-4707C>G) | |
3 | g.191375452C>T | CA355764633 | CCDC50 | c.839C>T (p.Ser280Leu) c.449-4707C>T (n.449-4707C>T) | |
3 | g.191375453A>C | CA437638178 | CCDC50 | c.840A>C (p.Ser280=) c.449-4706A>C (n.449-4706A>C) | |
3 | g.191375453A>G | CA437638179 | CCDC50 | c.840A>G (p.Ser280=) c.449-4706A>G (n.449-4706A>G) | |
3 | g.191375453A>T | CA437638180 | CCDC50 | c.840A>T (p.Ser280=) c.449-4706A>T (n.449-4706A>T) | |
3 | g.191375454C>A | CA355764635 | CCDC50 | c.841C>A (p.Gln281Lys) c.449-4705C>A (n.449-4705C>A) | |
3 | g.191375454C>G | CA355764636 | CCDC50 | c.841C>G (p.Gln281Glu) c.449-4705C>G (n.449-4705C>G) | |
3 | g.191375454C>T | CA355764637 | CCDC50 | c.841C>T (p.Gln281Ter) c.449-4705C>T (n.449-4705C>T) | |
3 | g.191375454_191375458delinsCAAAA | CA1429222298 | CCDC50 | c.841_845delinsCAAAA (p.Gln281=) c.449-4705_449-4701delinsCAAAA (n.449-4705_449-4701delinsCAAAA) | |
3 | g.191375455A>C | CA355764639 | CCDC50 | c.842A>C (p.Gln281Pro) c.449-4704A>C (n.449-4704A>C) | |
3 | g.191375455A>G | CA355764640 | CCDC50 | c.842A>G (p.Gln281Arg) c.449-4704A>G (n.449-4704A>G) | |
3 | g.191375455A>T | CA355764641 | CCDC50 | c.842A>T (p.Gln281Leu) c.449-4704A>T (n.449-4704A>T) | |
3 | g.191375456_191375459del | CA548798681 | CCDC50 | c.843_846del (p.Lys282GlnfsTer?) c.449-4703_449-4700del (n.449-4703_449-4700del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375456A>C | CA355764642 | CCDC50 | c.843A>C (p.Gln281His) c.449-4703A>C (n.449-4703A>C) | |
3 | g.191375456A>G | CA437638186 | CCDC50 | c.843A>G (p.Gln281=) c.449-4703A>G (n.449-4703A>G) | |
3 | g.191375456A>T | CA355764643 | CCDC50 | c.843A>T (p.Gln281His) c.449-4703A>T (n.449-4703A>T) | COSMIC |
3 | g.191375457A>C | CA355764644 | CCDC50 | c.844A>C (p.Lys282Gln) c.449-4702A>C (n.449-4702A>C) | |
3 | g.191375457A>G | CA355764646 | CCDC50 | c.844A>G (p.Lys282Glu) c.449-4702A>G (n.449-4702A>G) | gnomAD v4 |
3 | g.191375457A>T | CA355764645 | CCDC50 | c.844A>T (p.Lys282Ter) c.449-4702A>T (n.449-4702A>T) | |
3 | g.191375458A>C | CA355764649 | CCDC50 | c.845A>C (p.Lys282Thr) c.449-4701A>C (n.449-4701A>C) | |
3 | g.191375458A>G | CA355764650 | CCDC50 | c.845A>G (p.Lys282Arg) c.449-4701A>G (n.449-4701A>G) | |
3 | g.191375458A>T | CA355764651 | CCDC50 | c.845A>T (p.Lys282Ile) c.449-4701A>T (n.449-4701A>T) | |
3 | g.191375459A= | CA1429222299 | CCDC50 | c.846A= (p.Lys282=) c.449-4700A= (n.449-4700A=) | |
3 | g.191375459A>C | CA355764652 | CCDC50 | c.846A>C (p.Lys282Asn) c.449-4700A>C (n.449-4700A>C) | |
3 | g.191375459A>G | CA437638199 | CCDC50 | c.846A>G (p.Lys282=) c.449-4700A>G (n.449-4700A>G) | |
3 | g.191375459A>T | CA355764654 | CCDC50 | c.846A>T (p.Lys282Asn) c.449-4700A>T (n.449-4700A>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375460G>A | CA355764656 | CCDC50 | c.847G>A (p.Ala283Thr) c.449-4699G>A (n.449-4699G>A) | |
3 | g.191375460G>C | CA355764658 | CCDC50 | c.847G>C (p.Ala283Pro) c.449-4699G>C (n.449-4699G>C) | |
3 | g.191375460G>T | CA355764664 | CCDC50 | c.847G>T (p.Ala283Ser) c.449-4699G>T (n.449-4699G>T) | |
3 | g.191375460_191375462delinsGCA | CA1429222300 | CCDC50 | c.847_849delinsGCA (p.Ala283=) c.449-4699_449-4697delinsGCA (n.449-4699_449-4697delinsGCA) | |
3 | g.191375461C>A | CA355764666 | CCDC50 | c.848C>A (p.Ala283Glu) c.449-4698C>A (n.449-4698C>A) | |
3 | g.191375461C>G | CA355764668 | CCDC50 | c.848C>G (p.Ala283Gly) c.449-4698C>G (n.449-4698C>G) | |
3 | g.191375461C>T | CA355764669 | CCDC50 | c.848C>T (p.Ala283Val) c.449-4698C>T (n.449-4698C>T) | |
3 | g.191375461_191375462del | CA548798683 | CCDC50 | c.848_849del (p.Ala283GlyfsTer17) c.449-4698_449-4697del (n.449-4698_449-4697del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375462A>C | CA437638211 | CCDC50 | c.849A>C (p.Ala283=) c.449-4697A>C (n.449-4697A>C) | |
3 | g.191375462A>G | CA437638208 | CCDC50 | c.849A>G (p.Ala283=) c.449-4697A>G (n.449-4697A>G) | |
3 | g.191375462A>T | CA437638210 | CCDC50 | c.849A>T (p.Ala283=) c.449-4697A>T (n.449-4697A>T) | |
3 | g.191375463G>A | CA355764673 | CCDC50 | c.850G>A (p.Gly284Arg) c.449-4696G>A (n.449-4696G>A) | |
3 | g.191375463G>C | CA355764671 | CCDC50 | c.850G>C (p.Gly284Arg) c.449-4696G>C (n.449-4696G>C) | |
3 | g.191375463G>T | CA355764670 | CCDC50 | c.850G>T (p.Gly284Trp) c.449-4696G>T (n.449-4696G>T) | |
3 | g.191375464G>A | CA2755343 | CCDC50 | c.851G>A (p.Gly284Glu) c.449-4695G>A (n.449-4695G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375464G>C | CA355764675 | CCDC50 | c.851G>C (p.Gly284Ala) c.449-4695G>C (n.449-4695G>C) | |
3 | g.191375464G= | CA1429222301 | CCDC50 | c.851G= (p.Gly284=) c.449-4695G= (n.449-4695G=) | |
3 | g.191375464G>T | CA355764677 | CCDC50 | c.851G>T (p.Gly284Val) c.449-4695G>T (n.449-4695G>T) | |
3 | g.191375465G>A | CA437638221 | CCDC50 | c.852G>A (p.Gly284=) c.449-4694G>A (n.449-4694G>A) | |
3 | g.191375465G>C | CA437638222 | CCDC50 | c.852G>C (p.Gly284=) c.449-4694G>C (n.449-4694G>C) | |
3 | g.191375465G>T | CA437638223 | CCDC50 | c.852G>T (p.Gly284=) c.449-4694G>T (n.449-4694G>T) | |
3 | g.191375466C>A | CA355764680 | CCDC50 | c.853C>A (p.Leu285Ile) c.449-4693C>A (n.449-4693C>A) | |
3 | g.191375466C>G | CA355764681 | CCDC50 | c.853C>G (p.Leu285Val) c.449-4693C>G (n.449-4693C>G) | |
3 | g.191375466C>T | CA355764682 | CCDC50 | c.853C>T (p.Leu285Phe) c.449-4693C>T (n.449-4693C>T) | |
3 | g.191375467T>A | CA355764683 | CCDC50 | c.854T>A (p.Leu285His) c.449-4692T>A (n.449-4692T>A) | |
3 | g.191375467T>C | CA355764684 | CCDC50 | c.854T>C (p.Leu285Pro) c.449-4692T>C (n.449-4692T>C) | |
3 | g.191375467T>G | CA355764685 | CCDC50 | c.854T>G (p.Leu285Arg) c.449-4692T>G (n.449-4692T>G) | |
3 | g.191375468T>A | CA437638226 | CCDC50 | c.855T>A (p.Leu285=) c.449-4691T>A (n.449-4691T>A) | |
3 | g.191375468T>C | CA437638227 | CCDC50 | c.855T>C (p.Leu285=) c.449-4691T>C (n.449-4691T>C) | |
3 | g.191375468T>G | CA437638230 | CCDC50 | c.855T>G (p.Leu285=) c.449-4691T>G (n.449-4691T>G) | |
3 | g.191375469C>A | CA355764686 | CCDC50 | c.856C>A (p.His286Asn) c.449-4690C>A (n.449-4690C>A) | gnomAD v4 |
3 | g.191375469C>G | CA355764688 | CCDC50 | c.856C>G (p.His286Asp) c.449-4690C>G (n.449-4690C>G) | |
3 | g.191375469C>T | CA355764691 | CCDC50 | c.856C>T (p.His286Tyr) c.449-4690C>T (n.449-4690C>T) | COSMIC |
3 | g.191375470A>C | CA355764695 | CCDC50 | c.857A>C (p.His286Pro) c.449-4689A>C (n.449-4689A>C) | |
3 | g.191375470A>G | CA355764696 | CCDC50 | c.857A>G (p.His286Arg) c.449-4689A>G (n.449-4689A>G) | gnomAD v4 |
3 | g.191375470A>T | CA355764693 | CCDC50 | c.857A>T (p.His286Leu) c.449-4689A>T (n.449-4689A>T) | |
3 | g.191375471C>A | CA355764701 | CCDC50 | c.858C>A (p.His286Gln) c.449-4688C>A (n.449-4688C>A) | |
3 | g.191375471C= | CA1429222302 | CCDC50 | c.858C= (p.His286=) c.449-4688C= (n.449-4688C=) | |
3 | g.191375471C>G | CA355764699 | CCDC50 | c.858C>G (p.His286Gln) c.449-4688C>G (n.449-4688C>G) | |
3 | g.191375471C>T | CA2755344 | CCDC50 | c.858C>T (p.His286=) c.449-4688C>T (n.449-4688C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375472T>A | CA355764704 | CCDC50 | c.859T>A (p.Cys287Ser) c.449-4687T>A (n.449-4687T>A) | |
3 | g.191375472T>C | CA355764706 | CCDC50 | c.859T>C (p.Cys287Arg) c.449-4687T>C (n.449-4687T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375472T>G | CA355764708 | CCDC50 | c.859T>G (p.Cys287Gly) c.449-4687T>G (n.449-4687T>G) | |
3 | g.191375472T= | CA1429222303 | CCDC50 | c.859T= (p.Cys287=) c.449-4687T= (n.449-4687T=) | |
3 | g.191375473G>A | CA355764714 | CCDC50 | c.860G>A (p.Cys287Tyr) c.449-4686G>A (n.449-4686G>A) | |
3 | g.191375473G>C | CA355764712 | CCDC50 | c.860G>C (p.Cys287Ser) c.449-4686G>C (n.449-4686G>C) | |
3 | g.191375473G>T | CA355764710 | CCDC50 | c.860G>T (p.Cys287Phe) c.449-4686G>T (n.449-4686G>T) | |
3 | g.191375474C>A | CA355764715 | CCDC50 | c.861C>A (p.Cys287Ter) c.449-4685C>A (n.449-4685C>A) | |
3 | g.191375474C= | CA1429222304 | CCDC50 | c.861C= (p.Cys287=) c.449-4685C= (n.449-4685C=) | |
3 | g.191375474C>G | CA355764718 | CCDC50 | c.861C>G (p.Cys287Trp) c.449-4685C>G (n.449-4685C>G) | |
3 | g.191375474C>T | CA2755345 | CCDC50 | c.861C>T (p.Cys287=) c.449-4685C>T (n.449-4685C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375475A= | CA1429222305 | CCDC50 | c.862A= (p.Lys288=) c.449-4684A= (n.449-4684A=) | |
3 | g.191375475A>C | CA355764722 | CCDC50 | c.862A>C (p.Lys288Gln) c.449-4684A>C (n.449-4684A>C) | |
3 | g.191375475A>G | CA89778711 | CCDC50 | c.862A>G (p.Lys288Glu) c.449-4684A>G (n.449-4684A>G) | dbSNP gnomAD v4 |
3 | g.191375475A>T | CA355764725 | CCDC50 | c.862A>T (p.Lys288Ter) c.449-4684A>T (n.449-4684A>T) | |
3 | g.191375476A>C | CA355764730 | CCDC50 | c.863A>C (p.Lys288Thr) c.449-4683A>C (n.449-4683A>C) | |
3 | g.191375476A>G | CA355764727 | CCDC50 | c.863A>G (p.Lys288Arg) c.449-4683A>G (n.449-4683A>G) | |
3 | g.191375476A>T | CA355764728 | CCDC50 | c.863A>T (p.Lys288Met) c.449-4683A>T (n.449-4683A>T) | |
3 | g.191375477G>A | CA437638249 | CCDC50 | c.864G>A (p.Lys288=) c.449-4682G>A (n.449-4682G>A) | gnomAD v4 |
3 | g.191375477G>C | CA355764732 | CCDC50 | c.864G>C (p.Lys288Asn) c.449-4682G>C (n.449-4682G>C) | |
3 | g.191375477G>T | CA355764734 | CCDC50 | c.864G>T (p.Lys288Asn) c.449-4682G>T (n.449-4682G>T) | |
3 | g.191375478G>A | CA2755346 | CCDC50 | c.865G>A (p.Glu289Lys) c.449-4681G>A (n.449-4681G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375478G>C | CA355764737 | CCDC50 | c.865G>C (p.Glu289Gln) c.449-4681G>C (n.449-4681G>C) | |
3 | g.191375478G= | CA1429222306 | CCDC50 | c.865G= (p.Glu289=) c.449-4681G= (n.449-4681G=) | |
3 | g.191375478G>T | CA355764739 | CCDC50 | c.865G>T (p.Glu289Ter) c.449-4681G>T (n.449-4681G>T) | |
3 | g.191375479A>C | CA355764741 | CCDC50 | c.866A>C (p.Glu289Ala) c.449-4680A>C (n.449-4680A>C) | |
3 | g.191375479A>G | CA355764743 | CCDC50 | c.866A>G (p.Glu289Gly) c.449-4680A>G (n.449-4680A>G) | |
3 | g.191375479A>T | CA355764745 | CCDC50 | c.866A>T (p.Glu289Val) c.449-4680A>T (n.449-4680A>T) | |
3 | g.191375480A= | CA1429222307 | CCDC50 | c.867A= (p.Glu289=) c.449-4679A= (n.449-4679A=) | |
3 | g.191375480A>C | CA355764747 | CCDC50 | c.867A>C (p.Glu289Asp) c.449-4679A>C (n.449-4679A>C) | |
3 | g.191375480A>G | CA437638257 | CCDC50 | c.867A>G (p.Glu289=) c.449-4679A>G (n.449-4679A>G) | dbSNP |
3 | g.191375480A>T | CA355764748 | CCDC50 | c.867A>T (p.Glu289Asp) c.449-4679A>T (n.449-4679A>T) | |
3 | g.191375481G>A | CA355764749 | CCDC50 | c.868G>A (p.Val290Ile) c.449-4678G>A (n.449-4678G>A) | |
3 | g.191375481G>C | CA355764750 | CCDC50 | c.868G>C (p.Val290Leu) c.449-4678G>C (n.449-4678G>C) | |
3 | g.191375481G>T | CA355764751 | CCDC50 | c.868G>T (p.Val290Phe) c.449-4678G>T (n.449-4678G>T) | COSMIC |
3 | g.191375482T>A | CA355764753 | CCDC50 | c.869T>A (p.Val290Asp) c.449-4677T>A (n.449-4677T>A) | |
3 | g.191375482T>C | CA2755347 | CCDC50 | c.869T>C (p.Val290Ala) c.449-4677T>C (n.449-4677T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375482T>G | CA355764755 | CCDC50 | c.869T>G (p.Val290Gly) c.449-4677T>G (n.449-4677T>G) | |
3 | g.191375482T= | CA1429222308 | CCDC50 | c.869T= (p.Val290=) c.449-4677T= (n.449-4677T=) | |
3 | g.191375483T>A | CA437638261 | CCDC50 | c.870T>A (p.Val290=) c.449-4676T>A (n.449-4676T>A) | |
3 | g.191375483T>C | CA437638264 | CCDC50 | c.870T>C (p.Val290=) c.449-4676T>C (n.449-4676T>C) | gnomAD v4 |
3 | g.191375483T>G | CA437638262 | CCDC50 | c.870T>G (p.Val290=) c.449-4676T>G (n.449-4676T>G) | |
3 | g.191375484G>A | CA355764758 | CCDC50 | c.871G>A (p.Val291Ile) c.449-4675G>A (n.449-4675G>A) | |
3 | g.191375484G>C | CA355764760 | CCDC50 | c.871G>C (p.Val291Leu) c.449-4675G>C (n.449-4675G>C) | |
3 | g.191375484G>T | CA355764761 | CCDC50 | c.871G>T (p.Val291Leu) c.449-4675G>T (n.449-4675G>T) | |
3 | g.191375485T>A | CA355764762 | CCDC50 | c.872T>A (p.Val291Glu) c.449-4674T>A (n.449-4674T>A) | |
3 | g.191375485T>C | CA355764764 | CCDC50 | c.872T>C (p.Val291Ala) c.449-4674T>C (n.449-4674T>C) | |
3 | g.191375485T>G | CA355764766 | CCDC50 | c.872T>G (p.Val291Gly) c.449-4674T>G (n.449-4674T>G) | |
3 | g.191375486A= | CA1429222309 | CCDC50 | c.873A= (p.Val291=) c.449-4673A= (n.449-4673A=) | |
3 | g.191375486A>C | CA437638268 | CCDC50 | c.873A>C (p.Val291=) c.449-4673A>C (n.449-4673A>C) | |
3 | g.191375486A>G | CA437638269 | CCDC50 | c.873A>G (p.Val291=) c.449-4673A>G (n.449-4673A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375486A>T | CA437638270 | CCDC50 | c.873A>T (p.Val291=) c.449-4673A>T (n.449-4673A>T) | |
3 | g.191375487T>A | CA355764771 | CCDC50 | c.874T>A (p.Tyr292Asn) c.449-4672T>A (n.449-4672T>A) | |
3 | g.191375487T>C | CA355764768 | CCDC50 | c.874T>C (p.Tyr292His) c.449-4672T>C (n.449-4672T>C) | dbSNP gnomAD v4 |
3 | g.191375487T>G | CA355764770 | CCDC50 | c.874T>G (p.Tyr292Asp) c.449-4672T>G (n.449-4672T>G) | gnomAD v4 |
3 | g.191375487T= | CA1429222310 | CCDC50 | c.874T= (p.Tyr292=) c.449-4672T= (n.449-4672T=) | |
3 | g.191375488A= | CA1429222311 | CCDC50 | c.875A= (p.Tyr292=) c.449-4671A= (n.449-4671A=) | |
3 | g.191375488A>C | CA355764773 | CCDC50 | c.875A>C (p.Tyr292Ser) c.449-4671A>C (n.449-4671A>C) | |
3 | g.191375488A>G | CA355764774 | CCDC50 | c.875A>G (p.Tyr292Cys) c.449-4671A>G (n.449-4671A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375488A>T | CA355764775 | CCDC50 | c.875A>T (p.Tyr292Phe) c.449-4671A>T (n.449-4671A>T) | |
3 | g.191375489T>A | CA355764777 | CCDC50 | c.876T>A (p.Tyr292Ter) c.449-4670T>A (n.449-4670T>A) | |
3 | g.191375489T>C | CA437638278 | CCDC50 | c.876T>C (p.Tyr292=) c.449-4670T>C (n.449-4670T>C) | |
3 | g.191375489T>G | CA355764779 | CCDC50 | c.876T>G (p.Tyr292Ter) c.449-4670T>G (n.449-4670T>G) | |
3 | g.191375489dup | CA2577992225 | CCDC50 | c.876dup (p.Gly293TrpfsTer8) c.449-4670dup (n.449-4670dup) | |
3 | g.191375490G>A | CA355764782 | CCDC50 | c.877G>A (p.Gly293Arg) c.449-4669G>A (n.449-4669G>A) | COSMIC |
3 | g.191375490G>C | CA355764786 | CCDC50 | c.877G>C (p.Gly293Arg) c.449-4669G>C (n.449-4669G>C) | |
3 | g.191375490G>T | CA355764784 | CCDC50 | c.877G>T (p.Gly293Trp) c.449-4669G>T (n.449-4669G>T) | dbSNP |
3 | g.191375491G>A | CA89778714 | CCDC50 | c.878G>A (p.Gly293Glu) c.449-4668G>A (n.449-4668G>A) | dbSNP |
3 | g.191375491G>C | CA355764789 | CCDC50 | c.878G>C (p.Gly293Ala) c.449-4668G>C (n.449-4668G>C) | |
3 | g.191375491G= | CA1429222312 | CCDC50 | c.878G= (p.Gly293=) c.449-4668G= (n.449-4668G=) | |
3 | g.191375491G>T | CA355764791 | CCDC50 | c.878G>T (p.Gly293Val) c.449-4668G>T (n.449-4668G>T) | |
3 | g.191375492G>A | CA437637604 | CCDC50 | c.879G>A (p.Gly293=) c.449-4667G>A (n.449-4667G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375492G>C | CA437637605 | CCDC50 | c.879G>C (p.Gly293=) c.449-4667G>C (n.449-4667G>C) | |
3 | g.191375492G= | CA1429222313 | CCDC50 | c.879G= (p.Gly293=) c.449-4667G= (n.449-4667G=) | |
3 | g.191375492G>T | CA437637607 | CCDC50 | c.879G>T (p.Gly293=) c.449-4667G>T (n.449-4667G>T) |