Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.52906031_52906034del | CA630392020 | DCC | c.413-13_413-10del (n.413-13_413-10del) c.214-13_214-10del c.344-13_344-10del (n.344-13_344-10del) c.334-13_334-10del n.326-13_326-10del c.334-13_334-10del (n.334-13_334-10del) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.52906034T>A | CA2303874996 | DCC | c.413-10T>A (n.413-10T>A) c.214-10T>A c.344-10T>A (n.344-10T>A) c.334-10T>A n.326-10T>A c.334-10T>A (n.334-10T>A) | dbSNP |
18 | g.52906034T>C | CA2641854675 | DCC | c.413-10T>C (n.413-10T>C) c.214-10T>C c.344-10T>C (n.344-10T>C) c.334-10T>C n.326-10T>C c.334-10T>C (n.334-10T>C) | gnomAD v4 |
18 | g.52906034T= | CA2303874995 | DCC | c.413-10T= (n.413-10T=) c.214-10T= c.344-10T= (n.344-10T=) c.334-10T= n.326-10T= c.334-10T= (n.334-10T=) | |
18 | g.52906035T>C | CA2641854676 | DCC | c.413-9T>C (n.413-9T>C) c.214-9T>C c.344-9T>C (n.344-9T>C) c.334-9T>C n.326-9T>C c.334-9T>C (n.334-9T>C) | gnomAD v4 |
18 | g.52906035T>G | CA2303874998 | DCC | c.413-9T>G (n.413-9T>G) c.214-9T>G c.344-9T>G (n.344-9T>G) c.334-9T>G n.326-9T>G c.334-9T>G (n.334-9T>G) | dbSNP |
18 | g.52906035T= | CA2303874997 | DCC | c.413-9T= (n.413-9T=) c.214-9T= c.344-9T= (n.344-9T=) c.334-9T= n.326-9T= c.334-9T= (n.334-9T=) | |
18 | g.52906037C>A | CA2641854677 | DCC | c.413-7C>A (n.413-7C>A) c.214-7C>A c.344-7C>A (n.344-7C>A) c.334-7C>A n.326-7C>A c.334-7C>A (n.334-7C>A) | gnomAD v4 |
18 | g.52906039C= | CA2303874999 | DCC | c.413-5C= (n.413-5C=) c.214-5C= c.344-5C= (n.344-5C=) c.334-5C= n.326-5C= c.334-5C= (n.334-5C=) | |
18 | g.52906039C>T | CA8966546 | DCC | c.413-5C>T (n.413-5C>T) c.214-5C>T c.344-5C>T (n.344-5C>T) c.334-5C>T n.326-5C>T c.334-5C>T (n.334-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906040C>A | CA2641854678 | DCC | c.413-4C>A (n.413-4C>A) c.214-4C>A c.344-4C>A (n.344-4C>A) c.334-4C>A n.326-4C>A c.334-4C>A (n.334-4C>A) | gnomAD v4 |
18 | g.52906040C>T | CA2576506467 | DCC | c.413-4C>T (n.413-4C>T) c.214-4C>T c.344-4C>T (n.344-4C>T) c.334-4C>T n.326-4C>T c.334-4C>T (n.334-4C>T) | gnomAD v4 |
18 | g.52906041T>C | CA2641854679 | DCC | c.413-3T>C (n.413-3T>C) c.214-3T>C c.344-3T>C (n.344-3T>C) c.334-3T>C n.326-3T>C c.334-3T>C (n.334-3T>C) | gnomAD v4 |
18 | g.52906042A>C | CA402513457 | DCC | c.413-2A>C (n.413-2A>C) c.214-2A>C c.344-2A>C (n.344-2A>C) c.334-2A>C n.326-2A>C c.334-2A>C (n.334-2A>C) | |
18 | g.52906042A>G | CA402513458 | DCC | c.413-2A>G (n.413-2A>G) c.214-2A>G c.344-2A>G (n.344-2A>G) c.334-2A>G n.326-2A>G c.334-2A>G (n.334-2A>G) | |
18 | g.52906042A>T | CA402513459 | DCC | c.413-2A>T (n.413-2A>T) c.214-2A>T c.344-2A>T (n.344-2A>T) c.334-2A>T n.326-2A>T c.334-2A>T (n.334-2A>T) | |
18 | g.52906043G>A | CA402513461 | DCC | c.413-1G>A (n.413-1G>A) c.214-1G>A c.344-1G>A (n.344-1G>A) c.334-1G>A n.326-1G>A c.334-1G>A (n.334-1G>A) | |
18 | g.52906043G>C | CA402513462 | DCC | c.413-1G>C (n.413-1G>C) c.214-1G>C c.344-1G>C (n.344-1G>C) c.334-1G>C n.326-1G>C c.334-1G>C (n.334-1G>C) | |
18 | g.52906043G>T | CA402513460 | DCC | c.413-1G>T (n.413-1G>T) c.214-1G>T c.344-1G>T (n.344-1G>T) c.334-1G>T n.326-1G>T c.334-1G>T (n.334-1G>T) | |
18 | g.52906044G>A | CA402513463 | DCC | c.413G>A (p.Gly138Glu) c.214G>A c.344G>A (p.Gly115Glu) c.334G>A n.326G>A c.334G>A (n.334G>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906044G>C | CA402513464 | DCC | c.413G>C (p.Gly138Ala) c.214G>C c.344G>C (p.Gly115Ala) c.334G>C n.326G>C c.334G>C (n.334G>C) | |
18 | g.52906044G= | CA2303875000 | DCC | c.413G= (p.Gly138=) c.214G= c.344G= (p.Gly115=) c.334G= n.326G= c.334G= (n.334G=) | |
18 | g.52906044G>T | CA402513465 | DCC | c.413G>T (p.Gly138Val) c.214G>T c.344G>T (p.Gly115Val) c.334G>T n.326G>T c.334G>T (n.334G>T) | |
18 | g.52906045A= | CA2303875001 | DCC | c.414A= (p.Gly138=) c.215A= c.345A= (p.Gly115=) c.335A= n.327A= c.335A= (n.335A=) | |
18 | g.52906045A>C | CA503999198 | DCC | c.414A>C (p.Gly138=) c.215A>C c.345A>C (p.Gly115=) c.335A>C n.327A>C c.335A>C (n.335A>C) | |
18 | g.52906045A>G | CA300657945 | DCC | c.414A>G (p.Gly138=) c.215A>G c.345A>G (p.Gly115=) c.335A>G n.327A>G c.335A>G (n.335A>G) | dbSNP |
18 | g.52906045A>T | CA8966547 | DCC | c.414A>T (p.Gly138=) c.215A>T c.345A>T (p.Gly115=) c.335A>T n.327A>T c.335A>T (n.335A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906046C>A | CA402513466 | DCC | c.415C>A (p.Pro139Thr) c.216C>A c.346C>A (p.Pro116Thr) c.336C>A n.328C>A c.336C>A (n.336C>A) | gnomAD v4 |
18 | g.52906046C>G | CA402513467 | DCC | c.415C>G (p.Pro139Ala) c.216C>G c.346C>G (p.Pro116Ala) c.336C>G n.328C>G c.336C>G (n.336C>G) | |
18 | g.52906046C>T | CA402513468 | DCC | c.415C>T (p.Pro139Ser) c.216C>T c.346C>T (p.Pro116Ser) c.336C>T n.328C>T c.336C>T (n.336C>T) | gnomAD v4 COSMIC |
18 | g.52906047del | CA2576506468 | DCC | c.416del (p.Pro139HisfsTer2) c.217del c.347del (p.Pro116HisfsTer2) c.337del n.329del c.337del (n.337del) | |
18 | g.52906047C>A | CA402513469 | DCC | c.416C>A (p.Pro139Gln) c.217C>A c.347C>A (p.Pro116Gln) c.337C>A n.329C>A c.337C>A (n.337C>A) | gnomAD v4 |
18 | g.52906047C= | CA2303875002 | DCC | c.416C= (p.Pro139=) c.217C= c.347C= (p.Pro116=) c.337C= n.329C= c.337C= (n.337C=) | |
18 | g.52906047C>G | CA402513470 | DCC | c.416C>G (p.Pro139Arg) c.217C>G c.347C>G (p.Pro116Arg) c.337C>G n.329C>G c.337C>G (n.337C>G) | |
18 | g.52906047C>T | CA402513471 | DCC | c.416C>T (p.Pro139Leu) c.217C>T c.347C>T (p.Pro116Leu) c.337C>T n.329C>T c.337C>T (n.337C>T) | dbSNP |
18 | g.52906048_52906049del | CA2576506469 | DCC | c.417_418del (p.Leu140GlufsTer22) c.218_219del c.348_349del (p.Leu117GlufsTer22) c.338_339del n.330_331del c.338_339del (n.338_339del) | |
18 | g.52906048A>C | CA503999201 | DCC | c.417A>C (p.Pro139=) c.218A>C c.348A>C (p.Pro116=) c.338A>C n.330A>C c.338A>C (n.338A>C) | |
18 | g.52906048A>G | CA503999200 | DCC | c.417A>G (p.Pro139=) c.218A>G c.348A>G (p.Pro116=) c.338A>G n.330A>G c.338A>G (n.338A>G) | |
18 | g.52906048A>T | CA503999199 | DCC | c.417A>T (p.Pro139=) c.218A>T c.348A>T (p.Pro116=) c.338A>T n.330A>T c.338A>T (n.338A>T) | |
18 | g.52906049C>A | CA402513472 | DCC | c.418C>A (p.Leu140Met) c.219C>A c.349C>A (p.Leu117Met) c.339C>A n.331C>A c.339C>A (n.339C>A) | |
18 | g.52906049C>G | CA402513473 | DCC | c.418C>G (p.Leu140Val) c.219C>G c.349C>G (p.Leu117Val) c.339C>G n.331C>G c.339C>G (n.339C>G) | |
18 | g.52906049C>T | CA503999202 | DCC | c.418C>T (p.Leu140=) c.219C>T c.349C>T (p.Leu117=) c.339C>T n.331C>T c.339C>T (n.339C>T) | |
18 | g.52906050T>A | CA402513476 | DCC | c.419T>A (p.Leu140Gln) c.220T>A c.350T>A (p.Leu117Gln) c.340T>A n.332T>A c.340T>A (n.340T>A) | gnomAD v3 gnomAD v4 |
18 | g.52906050T>C | CA402513475 | DCC | c.419T>C (p.Leu140Pro) c.220T>C c.350T>C (p.Leu117Pro) c.340T>C n.332T>C c.340T>C (n.340T>C) | gnomAD v4 |
18 | g.52906050T>G | CA402513474 | DCC | c.419T>G (p.Leu140Arg) c.220T>G c.350T>G (p.Leu117Arg) c.340T>G n.332T>G c.340T>G (n.340T>G) | |
18 | g.52906051G>A | CA503999203 | DCC | c.420G>A (p.Leu140=) c.221G>A c.351G>A (p.Leu117=) c.341G>A n.333G>A c.341G>A (n.341G>A) | gnomAD v4 COSMIC |
18 | g.52906051G>C | CA503999204 | DCC | c.420G>C (p.Leu140=) c.221G>C c.351G>C (p.Leu117=) c.341G>C n.333G>C c.341G>C (n.341G>C) | |
18 | g.52906051G>T | CA503999205 | DCC | c.420G>T (p.Leu140=) c.221G>T c.351G>T (p.Leu117=) c.341G>T n.333G>T c.341G>T (n.341G>T) | gnomAD v4 |
18 | g.52906052A= | CA2303875003 | DCC | c.421A= (p.Arg141=) c.222A= c.352A= (p.Arg118=) c.342A= n.334A= c.342A= (n.342A=) | |
18 | g.52906052A>C | CA503999206 | DCC | c.421A>C (p.Arg141=) c.222A>C c.352A>C (p.Arg118=) c.342A>C n.334A>C c.342A>C (n.342A>C) | |
18 | g.52906052A>G | CA8966548 | DCC | c.421A>G (p.Arg141Gly) c.222A>G c.352A>G (p.Arg118Gly) c.342A>G n.334A>G c.342A>G (n.342A>G) | dbSNP ExAC gnomAD v4 |
18 | g.52906052A>T | CA402513477 | DCC | c.421A>T (p.Arg141Trp) c.222A>T c.352A>T (p.Arg118Trp) c.342A>T n.334A>T c.342A>T (n.342A>T) | |
18 | g.52906053G>A | CA402513478 | DCC | c.422G>A (p.Arg141Lys) c.223G>A c.353G>A (p.Arg118Lys) c.343G>A n.335G>A c.343G>A (n.343G>A) | |
18 | g.52906053G>C | CA402513479 | DCC | c.422G>C (p.Arg141Thr) c.223G>C c.353G>C (p.Arg118Thr) c.343G>C n.335G>C c.343G>C (n.343G>C) | |
18 | g.52906053G>T | CA402513480 | DCC | c.422G>T (p.Arg141Met) c.223G>T c.353G>T (p.Arg118Met) c.343G>T n.335G>T c.343G>T (n.343G>T) | gnomAD v4 |
18 | g.52906054G>A | CA503999207 | DCC | c.423G>A (p.Arg141=) c.224G>A c.354G>A (p.Arg118=) c.344G>A n.336G>A c.344G>A (n.344G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906054G>C | CA402513481 | DCC | c.423G>C (p.Arg141Ser) c.224G>C c.354G>C (p.Arg118Ser) c.344G>C n.336G>C c.344G>C (n.344G>C) | gnomAD v4 |
18 | g.52906054G= | CA2303875004 | DCC | c.423G= (p.Arg141=) c.224G= c.354G= (p.Arg118=) c.344G= n.336G= c.344G= (n.344G=) | |
18 | g.52906054G>T | CA402513482 | DCC | c.423G>T (p.Arg141Ser) c.224G>T c.354G>T (p.Arg118Ser) c.344G>T n.336G>T c.344G>T (n.344G>T) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.52906055T>A | CA402513483 | DCC | c.424T>A (p.Phe142Ile) c.225T>A c.355T>A (p.Phe119Ile) c.345T>A n.337T>A c.345T>A (n.345T>A) | dbSNP |
18 | g.52906055T>C | CA402513484 | DCC | c.424T>C (p.Phe142Leu) c.225T>C c.355T>C (p.Phe119Leu) c.345T>C n.337T>C c.345T>C (n.345T>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906055T>G | CA402513485 | DCC | c.424T>G (p.Phe142Val) c.225T>G c.355T>G (p.Phe119Val) c.345T>G n.337T>G c.345T>G (n.345T>G) | |
18 | g.52906055T= | CA2303875005 | DCC | c.424T= (p.Phe142=) c.225T= c.355T= (p.Phe119=) c.345T= n.337T= c.345T= (n.345T=) | |
18 | g.52906056T>A | CA402513486 | DCC | c.425T>A (p.Phe142Tyr) c.226T>A c.356T>A (p.Phe119Tyr) c.346T>A n.338T>A c.346T>A (n.346T>A) | |
18 | g.52906056T>C | CA402513487 | DCC | c.425T>C (p.Phe142Ser) c.226T>C c.356T>C (p.Phe119Ser) c.346T>C n.338T>C c.346T>C (n.346T>C) | |
18 | g.52906056T>G | CA402513488 | DCC | c.425T>G (p.Phe142Cys) c.226T>G c.356T>G (p.Phe119Cys) c.346T>G n.338T>G c.346T>G (n.346T>G) | |
18 | g.52906057C>A | CA402513489 | DCC | c.426C>A (p.Phe142Leu) c.227C>A c.357C>A (p.Phe119Leu) c.347C>A n.339C>A c.347C>A (n.347C>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906057C= | CA2303875006 | DCC | c.426C= (p.Phe142=) c.227C= c.357C= (p.Phe119=) c.347C= n.339C= c.347C= (n.347C=) | |
18 | g.52906057C>G | CA402513490 | DCC | c.426C>G (p.Phe142Leu) c.227C>G c.357C>G (p.Phe119Leu) c.347C>G n.339C>G c.347C>G (n.347C>G) | |
18 | g.52906057C>T | CA503999208 | DCC | c.426C>T (p.Phe142=) c.227C>T c.357C>T (p.Phe119=) c.347C>T n.339C>T c.347C>T (n.347C>T) | gnomAD v4 COSMIC |
18 | g.52906058C>A | CA402513491 | DCC | c.427C>A (p.Leu143Ile) c.228C>A c.358C>A (p.Leu120Ile) c.348C>A n.340C>A c.348C>A (n.348C>A) | |
18 | g.52906058C>G | CA402513492 | DCC | c.427C>G (p.Leu143Val) c.228C>G c.358C>G (p.Leu120Val) c.348C>G n.340C>G c.348C>G (n.348C>G) | |
18 | g.52906058C>T | CA402513493 | DCC | c.427C>T (p.Leu143Phe) c.228C>T c.358C>T (p.Leu120Phe) c.348C>T n.340C>T c.348C>T (n.348C>T) | COSMIC |
18 | g.52906059T>A | CA402513494 | DCC | c.428T>A (p.Leu143His) c.229T>A c.359T>A (p.Leu120His) c.349T>A n.341T>A c.349T>A (n.349T>A) | |
18 | g.52906059T>C | CA402513495 | DCC | c.428T>C (p.Leu143Pro) c.229T>C c.359T>C (p.Leu120Pro) c.349T>C n.341T>C c.349T>C (n.349T>C) | |
18 | g.52906059T>G | CA402513496 | DCC | c.428T>G (p.Leu143Arg) c.229T>G c.359T>G (p.Leu120Arg) c.349T>G n.341T>G c.349T>G (n.349T>G) | |
18 | g.52906060T>A | CA503999209 | DCC | c.429T>A (p.Leu143=) c.230T>A c.360T>A (p.Leu120=) c.350T>A n.342T>A c.350T>A (n.350T>A) | |
18 | g.52906060T>C | CA503999210 | DCC | c.429T>C (p.Leu143=) c.230T>C c.360T>C (p.Leu120=) c.350T>C n.342T>C c.350T>C (n.350T>C) | |
18 | g.52906060T>G | CA503999211 | DCC | c.429T>G (p.Leu143=) c.230T>G c.360T>G (p.Leu120=) c.350T>G n.342T>G c.350T>G (n.350T>G) | |
18 | g.52906061T>A | CA402513497 | DCC | c.430T>A (p.Ser144Thr) c.231T>A c.361T>A (p.Ser121Thr) c.351T>A n.343T>A c.351T>A (n.351T>A) | dbSNP |
18 | g.52906061T>C | CA402513498 | DCC | c.430T>C (p.Ser144Pro) c.231T>C c.361T>C (p.Ser121Pro) c.351T>C n.343T>C c.351T>C (n.351T>C) | |
18 | g.52906061T>G | CA402513499 | DCC | c.430T>G (p.Ser144Ala) c.231T>G c.361T>G (p.Ser121Ala) c.351T>G n.343T>G c.351T>G (n.351T>G) | |
18 | g.52906061T= | CA2303875007 | DCC | c.430T= (p.Ser144=) c.231T= c.361T= (p.Ser121=) c.351T= n.343T= c.351T= (n.351T=) | |
18 | g.52906062C>A | CA402513500 | DCC | c.431C>A (p.Ser144Ter) c.232C>A c.362C>A (p.Ser121Ter) c.352C>A n.344C>A c.352C>A (n.352C>A) | gnomAD v4 |
18 | g.52906062C>G | CA402513501 | DCC | c.431C>G (p.Ser144Ter) c.232C>G c.362C>G (p.Ser121Ter) c.352C>G n.344C>G c.352C>G (n.352C>G) | |
18 | g.52906062C>T | CA402513502 | DCC | c.431C>T (p.Ser144Leu) c.232C>T c.362C>T (p.Ser121Leu) c.352C>T n.344C>T c.352C>T (n.352C>T) | gnomAD v4 |
18 | g.52906064_52906065del | CA2576506470 | DCC | c.433_434del (p.Gln145AspfsTer17) c.234_235del c.364_365del (p.Gln122AspfsTer17) c.354_355del n.346_347del c.354_355del (n.354_355del) | |
18 | g.52906062_52906066delinsCACAG | CA2303875008 | DCC | c.431_435delinsCACAG (p.Ser144=) c.232_236delinsCACAG c.362_366delinsCACAG (p.Ser121=) c.352_356delinsCACAG n.344_348delinsCACAG c.352_356delinsCACAG (n.352_356delinsCACAG) | |
18 | g.52906063A= | CA2303875009 | DCC | c.432A= (p.Ser144=) c.233A= c.363A= (p.Ser121=) c.353A= n.345A= c.353A= (n.353A=) | |
18 | g.52906063A>C | CA503999212 | DCC | c.432A>C (p.Ser144=) c.233A>C c.363A>C (p.Ser121=) c.353A>C n.345A>C c.353A>C (n.353A>C) | |
18 | g.52906063A>G | CA503999213 | DCC | c.432A>G (p.Ser144=) c.233A>G c.363A>G (p.Ser121=) c.353A>G n.345A>G c.353A>G (n.353A>G) | |
18 | g.52906063A>T | CA8966549 | DCC | c.432A>T (p.Ser144=) c.233A>T c.363A>T (p.Ser121=) c.353A>T n.345A>T c.353A>T (n.353A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906068_52906071del | CA990396985 | DCC | c.437_440del (p.Thr146AsnfsTer?) c.238_241del c.368_371del (p.Thr123AsnfsTer?) c.358_361del n.350_353del c.358_361del (n.358_361del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906064C>A | CA402513505 | DCC | c.433C>A (p.Gln145Lys) c.234C>A c.364C>A (p.Gln122Lys) c.354C>A n.346C>A c.354C>A (n.354C>A) | |
18 | g.52906064C>G | CA402513504 | DCC | c.433C>G (p.Gln145Glu) c.234C>G c.364C>G (p.Gln122Glu) c.354C>G n.346C>G c.354C>G (n.354C>G) | |
18 | g.52906064C>T | CA402513503 | DCC | c.433C>T (p.Gln145Ter) c.234C>T c.364C>T (p.Gln122Ter) c.354C>T n.346C>T c.354C>T (n.354C>T) | |
18 | g.52906065A= | CA2303875010 | DCC | c.434A= (p.Gln145=) c.235A= c.365A= (p.Gln122=) c.355A= n.347A= c.355A= (n.355A=) | |
18 | g.52906065A>C | CA300657946 | DCC | c.434A>C (p.Gln145Pro) c.235A>C c.365A>C (p.Gln122Pro) c.355A>C n.347A>C c.355A>C (n.355A>C) | dbSNP gnomAD v4 |
18 | g.52906065A>G | CA402513506 | DCC | c.434A>G (p.Gln145Arg) c.235A>G c.365A>G (p.Gln122Arg) c.355A>G n.347A>G c.355A>G (n.355A>G) | |
18 | g.52906065A>T | CA402513507 | DCC | c.434A>T (p.Gln145Leu) c.235A>T c.365A>T (p.Gln122Leu) c.355A>T n.347A>T c.355A>T (n.355A>T) | COSMIC |
18 | g.52906066G>A | CA503999214 | DCC | c.435G>A (p.Gln145=) c.236G>A c.366G>A (p.Gln122=) c.356G>A n.348G>A c.356G>A (n.356G>A) | |
18 | g.52906066G>C | CA402513508 | DCC | c.435G>C (p.Gln145His) c.236G>C c.366G>C (p.Gln122His) c.356G>C n.348G>C c.356G>C (n.356G>C) | |
18 | g.52906066G>T | CA402513509 | DCC | c.435G>T (p.Gln145His) c.236G>T c.366G>T (p.Gln122His) c.356G>T n.348G>T c.356G>T (n.356G>T) | |
18 | g.52906067A>C | CA402513510 | DCC | c.436A>C (p.Thr146Pro) c.237A>C c.367A>C (p.Thr123Pro) c.357A>C n.349A>C c.357A>C (n.357A>C) | |
18 | g.52906067A>G | CA402513511 | DCC | c.436A>G (p.Thr146Ala) c.237A>G c.367A>G (p.Thr123Ala) c.357A>G n.349A>G c.357A>G (n.357A>G) | gnomAD v4 |
18 | g.52906067A>T | CA402513512 | DCC | c.436A>T (p.Thr146Ser) c.237A>T c.367A>T (p.Thr123Ser) c.357A>T n.349A>T c.357A>T (n.357A>T) | |
18 | g.52906068C>A | CA402513513 | DCC | c.437C>A (p.Thr146Lys) c.238C>A c.368C>A (p.Thr123Lys) c.358C>A n.350C>A c.358C>A (n.358C>A) | |
18 | g.52906068C>G | CA402513514 | DCC | c.437C>G (p.Thr146Arg) c.238C>G c.368C>G (p.Thr123Arg) c.358C>G n.350C>G c.358C>G (n.358C>G) | |
18 | g.52906068C>T | CA402513515 | DCC | c.437C>T (p.Thr146Ile) c.238C>T c.368C>T (p.Thr123Ile) c.358C>T n.350C>T c.358C>T (n.358C>T) | |
18 | g.52906069A>C | CA503999215 | DCC | c.438A>C (p.Thr146=) c.239A>C c.369A>C (p.Thr123=) c.359A>C n.351A>C c.359A>C (n.359A>C) | |
18 | g.52906069A>G | CA503999217 | DCC | c.438A>G (p.Thr146=) c.239A>G c.369A>G (p.Thr123=) c.359A>G n.351A>G c.359A>G (n.359A>G) | |
18 | g.52906069A>T | CA503999216 | DCC | c.438A>T (p.Thr146=) c.239A>T c.369A>T (p.Thr123=) c.359A>T n.351A>T c.359A>T (n.359A>T) | |
18 | g.52906070G>A | CA402513516 | DCC | c.439G>A (p.Glu147Lys) c.240G>A c.370G>A (p.Glu124Lys) c.360G>A n.352G>A c.360G>A (n.360G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906070G>C | CA402513517 | DCC | c.439G>C (p.Glu147Gln) c.240G>C c.370G>C (p.Glu124Gln) c.360G>C n.352G>C c.360G>C (n.360G>C) | |
18 | g.52906070G= | CA2303875011 | DCC | c.439G= (p.Glu147=) c.240G= c.370G= (p.Glu124=) c.360G= n.352G= c.360G= (n.360G=) | |
18 | g.52906070G>T | CA402513518 | DCC | c.439G>T (p.Glu147Ter) c.240G>T c.370G>T (p.Glu124Ter) c.360G>T n.352G>T c.360G>T (n.360G>T) | COSMIC |
18 | g.52906071A>C | CA402513520 | DCC | c.440A>C (p.Glu147Ala) c.241A>C c.371A>C (p.Glu124Ala) c.361A>C n.353A>C c.361A>C (n.361A>C) | |
18 | g.52906071A>G | CA402513521 | DCC | c.440A>G (p.Glu147Gly) c.241A>G c.371A>G (p.Glu124Gly) c.361A>G n.353A>G c.361A>G (n.361A>G) | |
18 | g.52906071A>T | CA402513519 | DCC | c.440A>T (p.Glu147Val) c.241A>T c.371A>T (p.Glu124Val) c.361A>T n.353A>T c.361A>T (n.361A>T) | COSMIC |
18 | g.52906072A>C | CA402513522 | DCC | c.441A>C (p.Glu147Asp) c.242A>C c.372A>C (p.Glu124Asp) c.362A>C n.354A>C c.362A>C (n.362A>C) | |
18 | g.52906072A>G | CA503999291 | DCC | c.441A>G (p.Glu147=) c.242A>G c.372A>G (p.Glu124=) c.362A>G n.354A>G c.362A>G (n.362A>G) | |
18 | g.52906072A>T | CA402513523 | DCC | c.441A>T (p.Glu147Asp) c.242A>T c.372A>T (p.Glu124Asp) c.362A>T n.354A>T c.362A>T (n.362A>T) | |
18 | g.52906073T>A | CA402513524 | DCC | c.442T>A (p.Ser148Thr) c.243T>A c.373T>A (p.Ser125Thr) c.363T>A n.355T>A c.363T>A (n.363T>A) | gnomAD v4 |
18 | g.52906073T>C | CA402513525 | DCC | c.442T>C (p.Ser148Pro) c.243T>C c.373T>C (p.Ser125Pro) c.363T>C n.355T>C c.363T>C (n.363T>C) | |
18 | g.52906073T>G | CA402513526 | DCC | c.442T>G (p.Ser148Ala) c.243T>G c.373T>G (p.Ser125Ala) c.363T>G n.355T>G c.363T>G (n.363T>G) | |
18 | g.52906074C>A | CA300657947 | DCC | c.443C>A (p.Ser148Tyr) c.244C>A c.374C>A (p.Ser125Tyr) c.364C>A n.356C>A c.364C>A (n.364C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906074C= | CA2303875012 | DCC | c.443C= (p.Ser148=) c.244C= c.374C= (p.Ser125=) c.364C= n.356C= c.364C= (n.364C=) | |
18 | g.52906074C>G | CA402513527 | DCC | c.443C>G (p.Ser148Cys) c.244C>G c.374C>G (p.Ser125Cys) c.364C>G n.356C>G c.364C>G (n.364C>G) | |
18 | g.52906074C>T | CA402513528 | DCC | c.443C>T (p.Ser148Phe) c.244C>T c.374C>T (p.Ser125Phe) c.364C>T n.356C>T c.364C>T (n.364C>T) | |
18 | g.52906075T>A | CA503999294 | DCC | c.444T>A (p.Ser148=) c.245T>A c.375T>A (p.Ser125=) c.365T>A n.357T>A c.365T>A (n.365T>A) | |
18 | g.52906075T>C | CA503999295 | DCC | c.444T>C (p.Ser148=) c.245T>C c.375T>C (p.Ser125=) c.365T>C n.357T>C c.365T>C (n.365T>C) | |
18 | g.52906075T>G | CA503999296 | DCC | c.444T>G (p.Ser148=) c.245T>G c.375T>G (p.Ser125=) c.365T>G n.357T>G c.365T>G (n.365T>G) | |
18 | g.52906076G>A | CA402513529 | DCC | c.445G>A (p.Val149Ile) c.246G>A c.376G>A (p.Val126Ile) c.366G>A n.358G>A c.366G>A (n.366G>A) | |
18 | g.52906076G>C | CA402513530 | DCC | c.445G>C (p.Val149Leu) c.246G>C c.376G>C (p.Val126Leu) c.366G>C n.358G>C c.366G>C (n.366G>C) | |
18 | g.52906076G>T | CA402513531 | DCC | c.445G>T (p.Val149Phe) c.246G>T c.376G>T (p.Val126Phe) c.366G>T n.358G>T c.366G>T (n.366G>T) | |
18 | g.52906077T>A | CA402513532 | DCC | c.446T>A (p.Val149Asp) c.247T>A c.377T>A (p.Val126Asp) c.367T>A n.359T>A c.367T>A (n.367T>A) | |
18 | g.52906077T>C | CA402513533 | DCC | c.446T>C (p.Val149Ala) c.247T>C c.377T>C (p.Val126Ala) c.367T>C n.359T>C c.367T>C (n.367T>C) | |
18 | g.52906077T>G | CA402513534 | DCC | c.446T>G (p.Val149Gly) c.247T>G c.377T>G (p.Val126Gly) c.367T>G n.359T>G c.367T>G (n.367T>G) | |
18 | g.52906078C>A | CA503999298 | DCC | c.447C>A (p.Val149=) c.248C>A c.378C>A (p.Val126=) c.368C>A n.360C>A c.368C>A (n.368C>A) | |
18 | g.52906078C= | CA2303875013 | DCC | c.447C= (p.Val149=) c.248C= c.378C= (p.Val126=) c.368C= n.360C= c.368C= (n.368C=) | |
18 | g.52906078C>G | CA503999299 | DCC | c.447C>G (p.Val149=) c.248C>G c.378C>G (p.Val126=) c.368C>G n.360C>G c.368C>G (n.368C>G) | |
18 | g.52906078C>T | CA8966550 | DCC | c.447C>T (p.Val149=) c.248C>T c.378C>T (p.Val126=) c.368C>T n.360C>T c.368C>T (n.368C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.52906079A>C | CA402513535 | DCC | c.448A>C (p.Thr150Pro) c.249A>C c.379A>C (p.Thr127Pro) c.369A>C n.361A>C c.369A>C (n.369A>C) | |
18 | g.52906079A>G | CA402513536 | DCC | c.448A>G (p.Thr150Ala) c.249A>G c.379A>G (p.Thr127Ala) c.369A>G n.361A>G c.369A>G (n.369A>G) | |
18 | g.52906079A>T | CA402513537 | DCC | c.448A>T (p.Thr150Ser) c.249A>T c.379A>T (p.Thr127Ser) c.369A>T n.361A>T c.369A>T (n.369A>T) | |
18 | g.52906080C>A | CA8966551 | DCC | c.449C>A (p.Thr150Lys) c.250C>A c.380C>A (p.Thr127Lys) c.370C>A n.362C>A c.370C>A (n.370C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.52906080C= | CA2303875014 | DCC | c.449C= (p.Thr150=) c.250C= c.380C= (p.Thr127=) c.370C= n.362C= c.370C= (n.370C=) | |
18 | g.52906080C>G | CA402513538 | DCC | c.449C>G (p.Thr150Arg) c.250C>G c.380C>G (p.Thr127Arg) c.370C>G n.362C>G c.370C>G (n.370C>G) | |
18 | g.52906080C>T | CA402513539 | DCC | c.449C>T (p.Thr150Ile) c.250C>T c.380C>T (p.Thr127Ile) c.370C>T n.362C>T c.370C>T (n.370C>T) | COSMIC |
18 | g.52906081A>C | CA503999300 | DCC | c.450A>C (p.Thr150=) c.251A>C c.381A>C (p.Thr127=) c.371A>C n.363A>C c.371A>C (n.371A>C) | |
18 | g.52906081A>G | CA503999302 | DCC | c.450A>G (p.Thr150=) c.251A>G c.381A>G (p.Thr127=) c.371A>G n.363A>G c.371A>G (n.371A>G) | |
18 | g.52906081A>T | CA503999301 | DCC | c.450A>T (p.Thr150=) c.251A>T c.381A>T (p.Thr127=) c.371A>T n.363A>T c.371A>T (n.371A>T) | gnomAD v4 |
18 | g.52906082G>A | CA402513540 | DCC | c.451G>A (p.Ala151Thr) c.252G>A c.382G>A (p.Ala128Thr) c.372G>A n.364G>A c.372G>A (n.372G>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906082G>C | CA402513541 | DCC | c.451G>C (p.Ala151Pro) c.252G>C c.382G>C (p.Ala128Pro) c.372G>C n.364G>C c.372G>C (n.372G>C) | |
18 | g.52906082G= | CA2303875015 | DCC | c.451G= (p.Ala151=) c.252G= c.382G= (p.Ala128=) c.372G= n.364G= c.372G= (n.372G=) | |
18 | g.52906082G>T | CA402513542 | DCC | c.451G>T (p.Ala151Ser) c.252G>T c.382G>T (p.Ala128Ser) c.372G>T n.364G>T c.372G>T (n.372G>T) | |
18 | g.52906083C>A | CA402513543 | DCC | c.452C>A (p.Ala151Asp) c.253C>A c.383C>A (p.Ala128Asp) c.373C>A n.365C>A c.373C>A (n.373C>A) | COSMIC |
18 | g.52906083C= | CA2303875016 | DCC | c.452C= (p.Ala151=) c.253C= c.383C= (p.Ala128=) c.373C= n.365C= c.373C= (n.373C=) | |
18 | g.52906083C>G | CA402513544 | DCC | c.452C>G (p.Ala151Gly) c.253C>G c.383C>G (p.Ala128Gly) c.373C>G n.365C>G c.373C>G (n.373C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906083C>T | CA402513545 | DCC | c.452C>T (p.Ala151Val) c.253C>T c.383C>T (p.Ala128Val) c.373C>T n.365C>T c.373C>T (n.373C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906084C>A | CA503999303 | DCC | c.453C>A (p.Ala151=) c.254C>A c.384C>A (p.Ala128=) c.374C>A n.366C>A c.374C>A (n.374C>A) | |
18 | g.52906084C>G | CA503999304 | DCC | c.453C>G (p.Ala151=) c.254C>G c.384C>G (p.Ala128=) c.374C>G n.366C>G c.374C>G (n.374C>G) | |
18 | g.52906084C>T | CA503999305 | DCC | c.453C>T (p.Ala151=) c.254C>T c.384C>T (p.Ala128=) c.374C>T n.366C>T c.374C>T (n.374C>T) | gnomAD v4 |
18 | g.52906085T>A | CA402513548 | DCC | c.454T>A (p.Phe152Ile) c.255T>A c.385T>A (p.Phe129Ile) c.375T>A n.367T>A c.375T>A (n.375T>A) | |
18 | g.52906085T>C | CA402513547 | DCC | c.454T>C (p.Phe152Leu) c.255T>C c.385T>C (p.Phe129Leu) c.375T>C n.367T>C c.375T>C (n.375T>C) | |
18 | g.52906085T>G | CA402513546 | DCC | c.454T>G (p.Phe152Val) c.255T>G c.385T>G (p.Phe129Val) c.375T>G n.367T>G c.375T>G (n.375T>G) | gnomAD v4 |
18 | g.52906086T>A | CA402513549 | DCC | c.455T>A (p.Phe152Tyr) c.256T>A c.386T>A (p.Phe129Tyr) c.376T>A n.368T>A c.376T>A (n.376T>A) | |
18 | g.52906086T>C | CA402513551 | DCC | c.455T>C (p.Phe152Ser) c.256T>C c.386T>C (p.Phe129Ser) c.376T>C n.368T>C c.376T>C (n.376T>C) | |
18 | g.52906086T>G | CA402513550 | DCC | c.455T>G (p.Phe152Cys) c.256T>G c.386T>G (p.Phe129Cys) c.376T>G n.368T>G c.376T>G (n.376T>G) | |
18 | g.52906087C>A | CA402513552 | DCC | c.456C>A (p.Phe152Leu) c.257C>A c.387C>A (p.Phe129Leu) c.377C>A n.369C>A c.377C>A (n.377C>A) | |
18 | g.52906087C= | CA2303875017 | DCC | c.456C= (p.Phe152=) c.257C= c.387C= (p.Phe129=) c.377C= n.369C= c.377C= (n.377C=) | |
18 | g.52906087C>G | CA402513553 | DCC | c.456C>G (p.Phe152Leu) c.257C>G c.387C>G (p.Phe129Leu) c.377C>G n.369C>G c.377C>G (n.377C>G) | COSMIC |
18 | g.52906087C>T | CA8966552 | DCC | c.456C>T (p.Phe152=) c.257C>T c.387C>T (p.Phe129=) c.377C>T n.369C>T c.377C>T (n.377C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.52906088A>C | CA402513554 | DCC | c.457A>C (p.Met153Leu) c.258A>C c.388A>C (p.Met130Leu) c.378A>C n.370A>C c.378A>C (n.378A>C) | |
18 | g.52906088A>G | CA402513556 | DCC | c.457A>G (p.Met153Val) c.258A>G c.388A>G (p.Met130Val) c.378A>G n.370A>G c.378A>G (n.378A>G) | |
18 | g.52906088A>T | CA402513555 | DCC | c.457A>T (p.Met153Leu) c.258A>T c.388A>T (p.Met130Leu) c.378A>T n.370A>T c.378A>T (n.378A>T) | |
18 | g.52906089T>A | CA402513557 | DCC | c.458T>A (p.Met153Lys) c.259T>A c.389T>A (p.Met130Lys) c.379T>A n.371T>A c.379T>A (n.379T>A) | |
18 | g.52906089T>C | CA402513559 | DCC | c.458T>C (p.Met153Thr) c.259T>C c.389T>C (p.Met130Thr) c.379T>C n.371T>C c.379T>C (n.379T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906089T>G | CA402513558 | DCC | c.458T>G (p.Met153Arg) c.259T>G c.389T>G (p.Met130Arg) c.379T>G n.371T>G c.379T>G (n.379T>G) | |
18 | g.52906089T= | CA2303875018 | DCC | c.458T= (p.Met153=) c.259T= c.389T= (p.Met130=) c.379T= n.371T= c.379T= (n.379T=) | |
18 | g.52906090G>A | CA402513560 | DCC | c.459G>A (p.Met153Ile) c.260G>A c.390G>A (p.Met130Ile) c.380G>A n.372G>A c.380G>A (n.380G>A) | |
18 | g.52906090G>C | CA402513561 | DCC | c.459G>C (p.Met153Ile) c.260G>C c.390G>C (p.Met130Ile) c.380G>C n.372G>C c.380G>C (n.380G>C) | |
18 | g.52906090G>T | CA402513562 | DCC | c.459G>T (p.Met153Ile) c.260G>T c.390G>T (p.Met130Ile) c.380G>T n.372G>T c.380G>T (n.380G>T) | |
18 | g.52906091G>A | CA402513563 | DCC | c.460G>A (p.Gly154Arg) c.261G>A c.391G>A (p.Gly131Arg) c.381G>A n.373G>A c.381G>A (n.381G>A) | |
18 | g.52906091G>C | CA402513564 | DCC | c.460G>C (p.Gly154Arg) c.261G>C c.391G>C (p.Gly131Arg) c.381G>C n.373G>C c.381G>C (n.381G>C) | |
18 | g.52906091G>T | CA402513565 | DCC | c.460G>T (p.Gly154Ter) c.261G>T c.391G>T (p.Gly131Ter) c.381G>T n.373G>T c.381G>T (n.381G>T) | COSMIC |
18 | g.52906092G>A | CA402513566 | DCC | c.461G>A (p.Gly154Glu) c.262G>A c.392G>A (p.Gly131Glu) c.382G>A n.374G>A c.382G>A (n.382G>A) | |
18 | g.52906092G>C | CA8966553 | DCC | c.461G>C (p.Gly154Ala) c.262G>C c.392G>C (p.Gly131Ala) c.382G>C n.374G>C c.382G>C (n.382G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.52906092G= | CA2303875019 | DCC | c.461G= (p.Gly154=) c.262G= c.392G= (p.Gly131=) c.382G= n.374G= c.382G= (n.382G=) | |
18 | g.52906092G>T | CA402513567 | DCC | c.461G>T (p.Gly154Val) c.262G>T c.392G>T (p.Gly131Val) c.382G>T n.374G>T c.382G>T (n.382G>T) | |
18 | g.52906093A= | CA2303875020 | DCC | c.462A= (p.Gly154=) c.263A= c.393A= (p.Gly131=) c.383A= n.375A= c.383A= (n.383A=) | |
18 | g.52906093A>C | CA503999306 | DCC | c.462A>C (p.Gly154=) c.263A>C c.393A>C (p.Gly131=) c.383A>C n.375A>C c.383A>C (n.383A>C) | |
18 | g.52906093A>G | CA503999307 | DCC | c.462A>G (p.Gly154=) c.263A>G c.393A>G (p.Gly131=) c.383A>G n.375A>G c.383A>G (n.383A>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.52906093A>T | CA503999308 | DCC | c.462A>T (p.Gly154=) c.263A>T c.393A>T (p.Gly131=) c.383A>T n.375A>T c.383A>T (n.383A>T) | |
18 | g.52906094G>A | CA402513570 | DCC | c.463G>A (p.Asp155Asn) c.264G>A c.394G>A (p.Asp132Asn) c.384G>A n.376G>A c.384G>A (n.384G>A) | COSMIC COSMIC |
18 | g.52906094G>C | CA402513569 | DCC | c.463G>C (p.Asp155His) c.264G>C c.394G>C (p.Asp132His) c.384G>C n.376G>C c.384G>C (n.384G>C) | |
18 | g.52906094G>T | CA402513568 | DCC | c.463G>T (p.Asp155Tyr) c.264G>T c.394G>T (p.Asp132Tyr) c.384G>T n.376G>T c.384G>T (n.384G>T) | |
18 | g.52906095A>C | CA402513571 | DCC | c.464A>C (p.Asp155Ala) c.265A>C c.395A>C (p.Asp132Ala) c.385A>C n.377A>C c.385A>C (n.385A>C) | |
18 | g.52906095A>G | CA402513572 | DCC | c.464A>G (p.Asp155Gly) c.265A>G c.395A>G (p.Asp132Gly) c.385A>G n.377A>G c.385A>G (n.385A>G) | |
18 | g.52906095A>T | CA402513573 | DCC | c.464A>T (p.Asp155Val) c.265A>T c.395A>T (p.Asp132Val) c.385A>T n.377A>T c.385A>T (n.385A>T) | |
18 | g.52906096C>A | CA402513574 | DCC | c.465C>A (p.Asp155Glu) c.266C>A c.396C>A (p.Asp132Glu) c.386C>A n.378C>A c.386C>A (n.386C>A) | |
18 | g.52906096C= | CA2303875021 | DCC | c.465C= (p.Asp155=) c.266C= c.396C= (p.Asp132=) c.386C= n.378C= c.386C= (n.386C=) | |
18 | g.52906096C>G | CA402513575 | DCC | c.465C>G (p.Asp155Glu) c.266C>G c.396C>G (p.Asp132Glu) c.386C>G n.378C>G c.386C>G (n.386C>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.52906096C>T | CA300657948 | DCC | c.465C>T (p.Asp155=) c.266C>T c.396C>T (p.Asp132=) c.386C>T n.378C>T c.386C>T (n.386C>T) | dbSNP |
18 | g.52906097A= | CA2303875022 | DCC | c.466A= (p.Thr156=) c.267A= c.397A= (p.Thr133=) c.387A= n.379A= c.387A= (n.387A=) | |
18 | g.52906097A>C | CA402513576 | DCC | c.466A>C (p.Thr156Pro) c.267A>C c.397A>C (p.Thr133Pro) c.387A>C n.379A>C c.387A>C (n.387A>C) | gnomAD v4 |
18 | g.52906097A>G | CA8966554 | DCC | c.466A>G (p.Thr156Ala) c.267A>G c.397A>G (p.Thr133Ala) c.387A>G n.379A>G c.387A>G (n.387A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906097A>T | CA402513577 | DCC | c.466A>T (p.Thr156Ser) c.267A>T c.397A>T (p.Thr133Ser) c.387A>T n.379A>T c.387A>T (n.387A>T) | |
18 | g.52906098C>A | CA402513578 | DCC | c.467C>A (p.Thr156Lys) c.268C>A c.398C>A (p.Thr133Lys) c.388C>A n.380C>A c.388C>A (n.388C>A) | gnomAD v4 |
18 | g.52906098C>G | CA402513579 | DCC | c.467C>G (p.Thr156Arg) c.268C>G c.398C>G (p.Thr133Arg) c.388C>G n.380C>G c.388C>G (n.388C>G) | gnomAD v4 COSMIC COSMIC |
18 | g.52906098C>T | CA402513580 | DCC | c.467C>T (p.Thr156Ile) c.268C>T c.398C>T (p.Thr133Ile) c.388C>T n.380C>T c.388C>T (n.388C>T) | gnomAD v4 |
18 | g.52906099A>C | CA503999311 | DCC | c.468A>C (p.Thr156=) c.269A>C c.399A>C (p.Thr133=) c.389A>C n.381A>C c.389A>C (n.389A>C) | |
18 | g.52906099A>G | CA503999312 | DCC | c.468A>G (p.Thr156=) c.269A>G c.399A>G (p.Thr133=) c.389A>G n.381A>G c.389A>G (n.389A>G) | |
18 | g.52906099A>T | CA503999313 | DCC | c.468A>T (p.Thr156=) c.269A>T c.399A>T (p.Thr133=) c.389A>T n.381A>T c.389A>T (n.389A>T) | gnomAD v4 |
18 | g.52906100G>A | CA8966555 | DCC | c.469G>A (p.Val157Met) c.270G>A c.400G>A (p.Val134Met) c.390G>A n.382G>A c.390G>A (n.390G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.52906100G>C | CA402513582 | DCC | c.469G>C (p.Val157Leu) c.270G>C c.400G>C (p.Val134Leu) c.390G>C n.382G>C c.390G>C (n.390G>C) | gnomAD v4 |
18 | g.52906100G= | CA2303875023 | DCC | c.469G= (p.Val157=) c.270G= c.400G= (p.Val134=) c.390G= n.382G= c.390G= (n.390G=) | |
18 | g.52906100G>T | CA402513581 | DCC | c.469G>T (p.Val157Leu) c.270G>T c.400G>T (p.Val134Leu) c.390G>T n.382G>T c.390G>T (n.390G>T) | |
18 | g.52906101T>A | CA402513583 | DCC | c.470T>A (p.Val157Glu) c.271T>A c.401T>A (p.Val134Glu) c.391T>A n.383T>A c.391T>A (n.391T>A) | |
18 | g.52906101T>C | CA402513584 | DCC | c.470T>C (p.Val157Ala) c.271T>C c.401T>C (p.Val134Ala) c.391T>C n.383T>C c.391T>C (n.391T>C) | |
18 | g.52906101T>G | CA402513585 | DCC | c.470T>G (p.Val157Gly) c.271T>G c.401T>G (p.Val134Gly) c.391T>G n.383T>G c.391T>G (n.391T>G) | |
18 | g.52906102G>A | CA503999317 | DCC | c.471G>A (p.Val157=) c.272G>A c.402G>A (p.Val134=) c.392G>A n.384G>A c.392G>A (n.392G>A) | gnomAD v4 |
18 | g.52906102G>C | CA503999319 | DCC | c.471G>C (p.Val157=) c.272G>C c.402G>C (p.Val134=) c.392G>C n.384G>C c.392G>C (n.392G>C) | |
18 | g.52906102G>T | CA503999320 | DCC | c.471G>T (p.Val157=) c.272G>T c.402G>T (p.Val134=) c.392G>T n.384G>T c.392G>T (n.392G>T) | |
18 | g.52906103C>A | CA402513586 | DCC | c.472C>A (p.Leu158Ile) c.273C>A c.403C>A (p.Leu135Ile) c.393C>A n.385C>A c.393C>A (n.393C>A) | |
18 | g.52906103C>G | CA402513587 | DCC | c.472C>G (p.Leu158Val) c.273C>G c.403C>G (p.Leu135Val) c.393C>G n.385C>G c.393C>G (n.393C>G) | |
18 | g.52906103C>T | CA503999321 | DCC | c.472C>T (p.Leu158=) c.273C>T c.403C>T (p.Leu135=) c.393C>T n.385C>T c.393C>T (n.393C>T) | |
18 | g.52906104T>A | CA402513588 | DCC | c.473T>A (p.Leu158Gln) c.274T>A c.404T>A (p.Leu135Gln) c.394T>A n.386T>A c.394T>A (n.394T>A) | |
18 | g.52906104T>C | CA402513589 | DCC | c.473T>C (p.Leu158Pro) c.274T>C c.404T>C (p.Leu135Pro) c.394T>C n.386T>C c.394T>C (n.394T>C) | |
18 | g.52906104T>G | CA402513590 | DCC | c.473T>G (p.Leu158Arg) c.274T>G c.404T>G (p.Leu135Arg) c.394T>G n.386T>G c.394T>G (n.394T>G) | |
18 | g.52906105A= | CA2303875024 | DCC | c.474A= (p.Leu158=) c.275A= c.405A= (p.Leu135=) c.395A= n.387A= c.395A= (n.395A=) | |
18 | g.52906105A>C | CA8966556 | DCC | c.474A>C (p.Leu158=) c.275A>C c.405A>C (p.Leu135=) c.395A>C n.387A>C c.395A>C (n.395A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906105A>G | CA503999322 | DCC | c.474A>G (p.Leu158=) c.275A>G c.405A>G (p.Leu135=) c.395A>G n.387A>G c.395A>G (n.395A>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.52906105A>T | CA503999323 | DCC | c.474A>T (p.Leu158=) c.275A>T c.405A>T (p.Leu135=) c.395A>T n.387A>T c.395A>T (n.395A>T) | |
18 | g.52906106C>A | CA402513591 | DCC | c.475C>A (p.Leu159Ile) c.276C>A c.406C>A (p.Leu136Ile) c.396C>A n.388C>A c.396C>A (n.396C>A) | gnomAD v4 |
18 | g.52906106C>G | CA402513592 | DCC | c.475C>G (p.Leu159Val) c.276C>G c.406C>G (p.Leu136Val) c.396C>G n.388C>G c.396C>G (n.396C>G) | |
18 | g.52906106C>T | CA402513593 | DCC | c.475C>T (p.Leu159Phe) c.276C>T c.406C>T (p.Leu136Phe) c.396C>T n.388C>T c.396C>T (n.396C>T) | gnomAD v4 |
18 | g.52906107T>A | CA402513596 | DCC | c.476T>A (p.Leu159His) c.277T>A c.407T>A (p.Leu136His) c.397T>A n.389T>A c.397T>A (n.397T>A) | |
18 | g.52906107T>C | CA402513594 | DCC | c.476T>C (p.Leu159Pro) c.277T>C c.407T>C (p.Leu136Pro) c.397T>C n.389T>C c.397T>C (n.397T>C) | |
18 | g.52906107T>G | CA402513595 | DCC | c.476T>G (p.Leu159Arg) c.277T>G c.407T>G (p.Leu136Arg) c.397T>G n.389T>G c.397T>G (n.397T>G) | |
18 | g.52906108C>A | CA503999324 | DCC | c.477C>A (p.Leu159=) c.278C>A c.408C>A (p.Leu136=) c.398C>A n.390C>A c.398C>A (n.398C>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906108C= | CA2303875025 | DCC | c.477C= (p.Leu159=) c.278C= c.408C= (p.Leu136=) c.398C= n.390C= c.398C= (n.398C=) | |
18 | g.52906108C>G | CA503999325 | DCC | c.477C>G (p.Leu159=) c.278C>G c.408C>G (p.Leu136=) c.398C>G n.390C>G c.398C>G (n.398C>G) | dbSNP |
18 | g.52906108C>T | CA503999326 | DCC | c.477C>T (p.Leu159=) c.278C>T c.408C>T (p.Leu136=) c.398C>T n.390C>T c.398C>T (n.398C>T) | dbSNP gnomAD v4 |
18 | g.52906109A= | CA2303875026 | DCC | c.478A= (p.Lys160=) c.279A= c.409A= (p.Lys137=) c.399A= n.391A= c.399A= (n.399A=) | |
18 | g.52906109A>C | CA300657949 | DCC | c.478A>C (p.Lys160Gln) c.279A>C c.409A>C (p.Lys137Gln) c.399A>C n.391A>C c.399A>C (n.399A>C) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.52906109A>G | CA402513597 | DCC | c.478A>G (p.Lys160Glu) c.279A>G c.409A>G (p.Lys137Glu) c.399A>G n.391A>G c.399A>G (n.399A>G) | |
18 | g.52906109A>T | CA402513598 | DCC | c.478A>T (p.Lys160Ter) c.279A>T c.409A>T (p.Lys137Ter) c.399A>T n.391A>T c.399A>T (n.399A>T) | |
18 | g.52906110A>C | CA402513599 | DCC | c.479A>C (p.Lys160Thr) c.280A>C c.410A>C (p.Lys137Thr) c.400A>C n.392A>C c.400A>C (n.400A>C) | |
18 | g.52906110A>G | CA402513600 | DCC | c.479A>G (p.Lys160Arg) c.280A>G c.410A>G (p.Lys137Arg) c.400A>G n.392A>G c.400A>G (n.400A>G) | |
18 | g.52906110A>T | CA402513601 | DCC | c.479A>T (p.Lys160Met) c.280A>T c.410A>T (p.Lys137Met) c.400A>T n.392A>T c.400A>T (n.400A>T) | |
18 | g.52906111G>A | CA503999327 | DCC | c.480G>A (p.Lys160=) c.281G>A c.411G>A (p.Lys137=) c.401G>A n.393G>A c.401G>A (n.401G>A) | dbSNP gnomAD v2 |
18 | g.52906111G>C | CA402513602 | DCC | c.480G>C (p.Lys160Asn) c.281G>C c.411G>C (p.Lys137Asn) c.401G>C n.393G>C c.401G>C (n.401G>C) | |
18 | g.52906111G= | CA2303875027 | DCC | c.480G= (p.Lys160=) c.281G= c.411G= (p.Lys137=) c.401G= n.393G= c.401G= (n.401G=) | |
18 | g.52906111G>T | CA402513603 | DCC | c.480G>T (p.Lys160Asn) c.281G>T c.411G>T (p.Lys137Asn) c.401G>T n.393G>T c.401G>T (n.401G>T) | |
18 | g.52906112T>A | CA402513604 | DCC | c.481T>A (p.Cys161Ser) c.282T>A c.412T>A (p.Cys138Ser) c.402T>A n.394T>A c.402T>A (n.402T>A) | |
18 | g.52906112T>C | CA402513605 | DCC | c.481T>C (p.Cys161Arg) c.282T>C c.412T>C (p.Cys138Arg) c.402T>C n.394T>C c.402T>C (n.402T>C) | |
18 | g.52906112T>G | CA402513606 | DCC | c.481T>G (p.Cys161Gly) c.282T>G c.412T>G (p.Cys138Gly) c.402T>G n.394T>G c.402T>G (n.402T>G) | |
18 | g.52906113G>A | CA402513609 | DCC | c.482G>A (p.Cys161Tyr) c.283G>A c.413G>A (p.Cys138Tyr) c.403G>A n.395G>A c.403G>A (n.403G>A) | gnomAD v4 |
18 | g.52906113G>C | CA402513608 | DCC | c.482G>C (p.Cys161Ser) c.283G>C c.413G>C (p.Cys138Ser) c.403G>C n.395G>C c.403G>C (n.403G>C) | |
18 | g.52906113G>T | CA402513607 | DCC | c.482G>T (p.Cys161Phe) c.283G>T c.413G>T (p.Cys138Phe) c.403G>T n.395G>T c.403G>T (n.403G>T) | COSMIC COSMIC |
18 | g.52906114T>A | CA402513610 | DCC | c.483T>A (p.Cys161Ter) c.284T>A c.414T>A (p.Cys138Ter) c.404T>A n.396T>A c.404T>A (n.404T>A) | |
18 | g.52906114T>C | CA503999328 | DCC | c.483T>C (p.Cys161=) c.284T>C c.414T>C (p.Cys138=) c.404T>C n.396T>C c.404T>C (n.404T>C) | |
18 | g.52906114T>G | CA402513611 | DCC | c.483T>G (p.Cys161Trp) c.284T>G c.414T>G (p.Cys138Trp) c.404T>G n.396T>G c.404T>G (n.404T>G) | |
18 | g.52906115G>A | CA300657950 | DCC | c.484G>A (p.Glu162Lys) c.285G>A c.415G>A (p.Glu139Lys) c.405G>A n.397G>A c.405G>A (n.405G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906115G>C | CA402513612 | DCC | c.484G>C (p.Glu162Gln) c.285G>C c.415G>C (p.Glu139Gln) c.405G>C n.397G>C c.405G>C (n.405G>C) | |
18 | g.52906115G= | CA2303875028 | DCC | c.484G= (p.Glu162=) c.285G= c.415G= (p.Glu139=) c.405G= n.397G= c.405G= (n.405G=) | |
18 | g.52906115G>T | CA402513613 | DCC | c.484G>T (p.Glu162Ter) c.285G>T c.415G>T (p.Glu139Ter) c.405G>T n.397G>T c.405G>T (n.405G>T) | |
18 | g.52906116A>C | CA402513614 | DCC | c.485A>C (p.Glu162Ala) c.286A>C c.416A>C (p.Glu139Ala) c.406A>C n.398A>C c.406A>C (n.406A>C) | |
18 | g.52906116A>G | CA402513615 | DCC | c.485A>G (p.Glu162Gly) c.286A>G c.416A>G (p.Glu139Gly) c.406A>G n.398A>G c.406A>G (n.406A>G) | gnomAD v4 |
18 | g.52906116A>T | CA402513616 | DCC | c.485A>T (p.Glu162Val) c.286A>T c.416A>T (p.Glu139Val) c.406A>T n.398A>T c.406A>T (n.406A>T) | |
18 | g.52906117A>C | CA402513617 | DCC | c.486A>C (p.Glu162Asp) c.287A>C c.417A>C (p.Glu139Asp) c.407A>C n.399A>C c.407A>C (n.407A>C) | |
18 | g.52906117A>G | CA503999329 | DCC | c.486A>G (p.Glu162=) c.287A>G c.417A>G (p.Glu139=) c.407A>G n.399A>G c.407A>G (n.407A>G) | |
18 | g.52906117A>T | CA402513618 | DCC | c.486A>T (p.Glu162Asp) c.287A>T c.417A>T (p.Glu139Asp) c.407A>T n.399A>T c.407A>T (n.407A>T) | |
18 | g.52906118G>A | CA402513619 | DCC | c.487G>A (p.Val163Ile) c.288G>A c.418G>A (p.Val140Ile) c.408G>A n.400G>A c.408G>A (n.408G>A) | |
18 | g.52906118G>C | CA402513620 | DCC | c.487G>C (p.Val163Leu) c.288G>C c.418G>C (p.Val140Leu) c.408G>C n.400G>C c.408G>C (n.408G>C) | |
18 | g.52906118G>T | CA402513621 | DCC | c.487G>T (p.Val163Phe) c.288G>T c.418G>T (p.Val140Phe) c.408G>T n.400G>T c.408G>T (n.408G>T) | |
18 | g.52906119T>A | CA402513624 | DCC | c.488T>A (p.Val163Asp) c.289T>A c.419T>A (p.Val140Asp) c.409T>A n.401T>A c.409T>A (n.409T>A) | |
18 | g.52906119T>C | CA402513623 | DCC | c.488T>C (p.Val163Ala) c.289T>C c.419T>C (p.Val140Ala) c.409T>C n.401T>C c.409T>C (n.409T>C) | dbSNP gnomAD v4 |
18 | g.52906119T>G | CA402513622 | DCC | c.488T>G (p.Val163Gly) c.289T>G c.419T>G (p.Val140Gly) c.409T>G n.401T>G c.409T>G (n.409T>G) | |
18 | g.52906119T= | CA2303875029 | DCC | c.488T= (p.Val163=) c.289T= c.419T= (p.Val140=) c.409T= n.401T= c.409T= (n.409T=) | |
18 | g.52906120C>A | CA503999330 | DCC | c.489C>A (p.Val163=) c.290C>A c.420C>A (p.Val140=) c.410C>A n.402C>A c.410C>A (n.410C>A) | dbSNP |
18 | g.52906120C= | CA2303875030 | DCC | c.489C= (p.Val163=) c.290C= c.420C= (p.Val140=) c.410C= n.402C= c.410C= (n.410C=) | |
18 | g.52906120C>G | CA503999331 | DCC | c.489C>G (p.Val163=) c.290C>G c.420C>G (p.Val140=) c.410C>G n.402C>G c.410C>G (n.410C>G) | |
18 | g.52906120C>T | CA503999332 | DCC | c.489C>T (p.Val163=) c.290C>T c.420C>T (p.Val140=) c.410C>T n.402C>T c.410C>T (n.410C>T) | |
18 | g.52906121A= | CA2303875031 | DCC | c.490A= (p.Ile164=) c.291A= c.421A= (p.Ile141=) c.411A= n.403A= c.411A= (n.411A=) | |
18 | g.52906121A>C | CA402513625 | DCC | c.490A>C (p.Ile164Leu) c.291A>C c.421A>C (p.Ile141Leu) c.411A>C n.403A>C c.411A>C (n.411A>C) | |
18 | g.52906121A>G | CA402513626 | DCC | c.490A>G (p.Ile164Val) c.291A>G c.421A>G (p.Ile141Val) c.411A>G n.403A>G c.411A>G (n.411A>G) | dbSNP gnomAD v4 |
18 | g.52906121A>T | CA402513627 | DCC | c.490A>T (p.Ile164Phe) c.291A>T c.421A>T (p.Ile141Phe) c.411A>T n.403A>T c.411A>T (n.411A>T) | |
18 | g.52906122T>A | CA402513628 | DCC | c.491T>A (p.Ile164Asn) c.292T>A c.422T>A (p.Ile141Asn) c.412T>A n.404T>A c.412T>A (n.412T>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906122T>C | CA8966557 | DCC | c.491T>C (p.Ile164Thr) c.292T>C c.422T>C (p.Ile141Thr) c.412T>C n.404T>C c.412T>C (n.412T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906122T>G | CA402513629 | DCC | c.491T>G (p.Ile164Ser) c.292T>G c.422T>G (p.Ile141Ser) c.412T>G n.404T>G c.412T>G (n.412T>G) | |
18 | g.52906122T= | CA2303875032 | DCC | c.491T= (p.Ile164=) c.292T= c.422T= (p.Ile141=) c.412T= n.404T= c.412T= (n.412T=) | |
18 | g.52906123T>A | CA503999333 | DCC | c.492T>A (p.Ile164=) c.293T>A c.423T>A (p.Ile141=) c.413T>A n.405T>A c.413T>A (n.413T>A) | |
18 | g.52906123T>C | CA503999334 | DCC | c.492T>C (p.Ile164=) c.293T>C c.423T>C (p.Ile141=) c.413T>C n.405T>C c.413T>C (n.413T>C) | |
18 | g.52906123T>G | CA402513630 | DCC | c.492T>G (p.Ile164Met) c.293T>G c.423T>G (p.Ile141Met) c.413T>G n.405T>G c.413T>G (n.413T>G) | |
18 | g.52906124G>A | CA402513631 | DCC | c.493G>A (p.Gly165Arg) c.294G>A c.424G>A (p.Gly142Arg) c.414G>A n.406G>A c.414G>A (n.414G>A) | |
18 | g.52906124G>C | CA402513632 | DCC | c.493G>C (p.Gly165Arg) c.294G>C c.424G>C (p.Gly142Arg) c.414G>C n.406G>C c.414G>C (n.414G>C) | |
18 | g.52906124G>T | CA402513633 | DCC | c.493G>T (p.Gly165Trp) c.294G>T c.424G>T (p.Gly142Trp) c.414G>T n.406G>T c.414G>T (n.414G>T) | |
18 | g.52906125G>A | CA402513634 | DCC | c.494G>A (p.Gly165Glu) c.295G>A c.425G>A (p.Gly142Glu) c.415G>A n.407G>A c.415G>A (n.415G>A) | |
18 | g.52906125G>C | CA402513635 | DCC | c.494G>C (p.Gly165Ala) c.295G>C c.425G>C (p.Gly142Ala) c.415G>C n.407G>C c.415G>C (n.415G>C) | |
18 | g.52906125G>T | CA402513636 | DCC | c.494G>T (p.Gly165Val) c.295G>T c.425G>T (p.Gly142Val) c.415G>T n.407G>T c.415G>T (n.415G>T) | |
18 | g.52906126G>A | CA503999335 | DCC | c.495G>A (p.Gly165=) c.296G>A c.426G>A (p.Gly142=) c.416G>A n.408G>A c.416G>A (n.416G>A) | |
18 | g.52906126G>C | CA503999336 | DCC | c.495G>C (p.Gly165=) c.296G>C c.426G>C (p.Gly142=) c.416G>C n.408G>C c.416G>C (n.416G>C) | |
18 | g.52906126G>T | CA503999337 | DCC | c.495G>T (p.Gly165=) c.296G>T c.426G>T (p.Gly142=) c.416G>T n.408G>T c.416G>T (n.416G>T) | |
18 | g.52906127G>A | CA402513638 | DCC | c.496G>A (p.Glu166Lys) c.297G>A c.427G>A (p.Glu143Lys) c.417G>A n.409G>A c.417G>A (n.417G>A) | gnomAD v4 |
18 | g.52906127G>C | CA402513639 | DCC | c.496G>C (p.Glu166Gln) c.297G>C c.427G>C (p.Glu143Gln) c.417G>C n.409G>C c.417G>C (n.417G>C) | |
18 | g.52906127G>T | CA402513637 | DCC | c.496G>T (p.Glu166Ter) c.297G>T c.427G>T (p.Glu143Ter) c.417G>T n.409G>T c.417G>T (n.417G>T) | |
18 | g.52906128A= | CA2303875033 | DCC | c.497A= (p.Glu166=) c.298A= c.428A= (p.Glu143=) c.418A= n.410A= c.418A= (n.418A=) | |
18 | g.52906128A>C | CA402513640 | DCC | c.497A>C (p.Glu166Ala) c.298A>C c.428A>C (p.Glu143Ala) c.418A>C n.410A>C c.418A>C (n.418A>C) | |
18 | g.52906128A>G | CA8966558 | DCC | c.497A>G (p.Glu166Gly) c.298A>G c.428A>G (p.Glu143Gly) c.418A>G n.410A>G c.418A>G (n.418A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906128A>T | CA402513641 | DCC | c.497A>T (p.Glu166Val) c.298A>T c.428A>T (p.Glu143Val) c.418A>T n.410A>T c.418A>T (n.418A>T) | |
18 | g.52906129G>A | CA503999338 | DCC | c.498G>A (p.Glu166=) c.299G>A c.429G>A (p.Glu143=) c.419G>A n.411G>A c.419G>A (n.419G>A) | gnomAD v4 |
18 | g.52906129G>C | CA402513642 | DCC | c.498G>C (p.Glu166Asp) c.299G>C c.429G>C (p.Glu143Asp) c.419G>C n.411G>C c.419G>C (n.419G>C) | |
18 | g.52906129G>T | CA402513643 | DCC | c.498G>T (p.Glu166Asp) c.299G>T c.429G>T (p.Glu143Asp) c.419G>T n.411G>T c.419G>T (n.419G>T) | |
18 | g.52906130C>A | CA402513644 | DCC | c.499C>A (p.Pro167Thr) c.300C>A c.430C>A (p.Pro144Thr) c.420C>A n.412C>A c.420C>A (n.420C>A) | |
18 | g.52906130C>G | CA402513645 | DCC | c.499C>G (p.Pro167Ala) c.300C>G c.430C>G (p.Pro144Ala) c.420C>G n.412C>G c.420C>G (n.420C>G) | |
18 | g.52906130C>T | CA402513646 | DCC | c.499C>T (p.Pro167Ser) c.300C>T c.430C>T (p.Pro144Ser) c.420C>T n.412C>T c.420C>T (n.420C>T) | |
18 | g.52906131C>A | CA402513647 | DCC | c.500C>A (p.Pro167His) c.301C>A c.431C>A (p.Pro144His) c.421C>A n.413C>A c.421C>A (n.421C>A) | |
18 | g.52906131C>G | CA402513648 | DCC | c.500C>G (p.Pro167Arg) c.301C>G c.431C>G (p.Pro144Arg) c.421C>G n.413C>G c.421C>G (n.421C>G) | |
18 | g.52906131C>T | CA402513649 | DCC | c.500C>T (p.Pro167Leu) c.301C>T c.431C>T (p.Pro144Leu) c.421C>T n.413C>T c.421C>T (n.421C>T) | |
18 | g.52906132C>A | CA503999339 | DCC | c.501C>A (p.Pro167=) c.302C>A c.432C>A (p.Pro144=) c.422C>A n.414C>A c.422C>A (n.422C>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906132C= | CA2303875034 | DCC | c.501C= (p.Pro167=) c.302C= c.432C= (p.Pro144=) c.422C= n.414C= c.422C= (n.422C=) | |
18 | g.52906132C>G | CA503999340 | DCC | c.501C>G (p.Pro167=) c.302C>G c.432C>G (p.Pro144=) c.422C>G n.414C>G c.422C>G (n.422C>G) | |
18 | g.52906132C>T | CA503999341 | DCC | c.501C>T (p.Pro167=) c.302C>T c.432C>T (p.Pro144=) c.422C>T n.414C>T c.422C>T (n.422C>T) | dbSNP COSMIC COSMIC |
18 | g.52906133A= | CA2303875035 | DCC | c.502A= (p.Met168=) c.303A= c.433A= (p.Met145=) c.423A= n.415A= c.423A= (n.423A=) | |
18 | g.52906133A>C | CA402513652 | DCC | c.502A>C (p.Met168Leu) c.303A>C c.433A>C (p.Met145Leu) c.423A>C n.415A>C c.423A>C (n.423A>C) | |
18 | g.52906133A>G | CA402513651 | DCC | c.502A>G (p.Met168Val) c.303A>G c.433A>G (p.Met145Val) c.423A>G n.415A>G c.423A>G (n.423A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906133A>T | CA402513650 | DCC | c.502A>T (p.Met168Leu) c.303A>T c.433A>T (p.Met145Leu) c.423A>T n.415A>T c.423A>T (n.423A>T) |