Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47377010_47377014del | CA2658944343 | EPCAM | c.492-4_492del c.576-4_576del n.341-4_341del | gnomAD v4 |
2 | g.47377011C>A | CA2658944344 | EPCAM | c.492-3C>A (n.492-3C>A) c.576-3C>A (n.576-3C>A) n.341-3C>A | gnomAD v4 |
2 | g.47377011C= | CA2495810589 | EPCAM | c.492-3C= (n.492-3C=) c.576-3C= (n.576-3C=) n.341-3C= | |
2 | g.47377011C>G | CA2495810590 | EPCAM | c.492-3C>G (n.492-3C>G) c.576-3C>G (n.576-3C>G) n.341-3C>G | dbSNP |
2 | g.47377011C>T | CA532337726 | EPCAM | c.492-3C>T (n.492-3C>T) c.576-3C>T (n.576-3C>T) n.341-3C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47377012A= | CA2495810591 | EPCAM | c.492-2A= (n.492-2A=) c.576-2A= (n.576-2A=) n.341-2A= | |
2 | g.47377012A>C | CA346723938 | EPCAM | c.492-2A>C (n.492-2A>C) c.576-2A>C (n.576-2A>C) n.341-2A>C | |
2 | g.47377012A>G | CA171017 | EPCAM | c.492-2A>G (n.492-2A>G) c.576-2A>G (n.576-2A>G) n.341-2A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47377012A>T | CA346723939 | EPCAM | c.492-2A>T (n.492-2A>T) c.576-2A>T (n.576-2A>T) n.341-2A>T | dbSNP |
2 | g.47377013G>A | CA346723940 | EPCAM | c.492-1G>A (n.492-1G>A) c.576-1G>A (n.576-1G>A) n.341-1G>A | dbSNP gnomAD v4 |
2 | g.47377013G>C | CA346723941 | EPCAM | c.492-1G>C (n.492-1G>C) c.576-1G>C (n.576-1G>C) n.341-1G>C | dbSNP |
2 | g.47377013G= | CA2495810592 | EPCAM | c.492-1G= (n.492-1G=) c.576-1G= (n.576-1G=) n.341-1G= | |
2 | g.47377013G>T | CA46641819 | EPCAM | c.492-1G>T (n.492-1G>T) c.576-1G>T (n.576-1G>T) n.341-1G>T | dbSNP gnomAD v4 |
2 | g.47377014T>A | CA425947333 | EPCAM | c.492T>A (p.Thr164=) c.576T>A (p.Thr192=) n.341T>A | dbSNP |
2 | g.47377014T>C | CA425947334 | EPCAM | c.492T>C (p.Thr164=) c.576T>C (p.Thr192=) n.341T>C | gnomAD v4 |
2 | g.47377014T>G | CA425947335 | EPCAM | c.492T>G (p.Thr164=) c.576T>G (p.Thr192=) n.341T>G | |
2 | g.47377015G>A | CA287880 | EPCAM | c.493G>A (p.Ala165Thr) c.577G>A (p.Ala193Thr) n.342G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377015G>C | CA346723943 | EPCAM | c.493G>C (p.Ala165Pro) c.577G>C (p.Ala193Pro) n.342G>C | dbSNP |
2 | g.47377015G= | CA2495810593 | EPCAM | c.493G= (p.Ala165=) c.577G= (p.Ala193=) n.342G= | |
2 | g.47377015G>T | CA346723942 | EPCAM | c.493G>T (p.Ala165Ser) c.577G>T (p.Ala193Ser) n.342G>T | gnomAD v4 |
2 | g.47377016C>A | CA346723944 | EPCAM | c.494C>A (p.Ala165Glu) c.578C>A (p.Ala193Glu) n.343C>A | gnomAD v4 |
2 | g.47377016C= | CA2495810594 | EPCAM | c.494C= (p.Ala165=) c.578C= (p.Ala193=) n.343C= | |
2 | g.47377016C>G | CA346723945 | EPCAM | c.494C>G (p.Ala165Gly) c.578C>G (p.Ala193Gly) n.343C>G | dbSNP |
2 | g.47377016C>T | CA1649037 | EPCAM | c.494C>T (p.Ala165Val) c.578C>T (p.Ala193Val) n.343C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47377017A>C | CA425947338 | EPCAM | c.495A>C (p.Ala165=) c.579A>C (p.Ala193=) n.344A>C | gnomAD v4 |
2 | g.47377017A>G | CA425947339 | EPCAM | c.495A>G (p.Ala165=) c.579A>G (p.Ala193=) n.344A>G | ClinVar |
2 | g.47377017A>T | CA425947341 | EPCAM | c.495A>T (p.Ala165=) c.579A>T (p.Ala193=) n.344A>T | dbSNP |
2 | g.47377018C>A | CA346723946 | EPCAM | c.496C>A (p.Leu166Ile) c.580C>A (p.Leu194Ile) n.345C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377018C= | CA2495810595 | EPCAM | c.496C= (p.Leu166=) c.580C= (p.Leu194=) n.345C= | |
2 | g.47377018C>G | CA346723947 | EPCAM | c.496C>G (p.Leu166Val) c.580C>G (p.Leu194Val) n.345C>G | dbSNP |
2 | g.47377018C>T | CA332785 | EPCAM | c.496C>T (p.Leu166Phe) c.580C>T (p.Leu194Phe) n.345C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377019T>A | CA346723948 | EPCAM | c.497T>A (p.Leu166His) c.581T>A (p.Leu194His) n.346T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47377019T>C | CA346723949 | EPCAM | c.497T>C (p.Leu166Pro) c.581T>C (p.Leu194Pro) n.346T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47377019T>G | CA346723950 | EPCAM | c.497T>G (p.Leu166Arg) c.581T>G (p.Leu194Arg) n.346T>G | |
2 | g.47377019T= | CA2495810596 | EPCAM | c.497T= (p.Leu166=) c.581T= (p.Leu194=) n.346T= | |
2 | g.47377020T>A | CA425947344 | EPCAM | c.498T>A (p.Leu166=) c.582T>A (p.Leu194=) n.347T>A | dbSNP |
2 | g.47377020T>C | CA425947345 | EPCAM | c.498T>C (p.Leu166=) c.582T>C (p.Leu194=) n.347T>C | |
2 | g.47377020T>G | CA425947346 | EPCAM | c.498T>G (p.Leu166=) c.582T>G (p.Leu194=) n.347T>G | |
2 | g.47377020T= | CA2495810597 | EPCAM | c.498T= (p.Leu166=) c.582T= (p.Leu194=) n.347T= | |
2 | g.47377021C>A | CA346723951 | EPCAM | c.499C>A (p.Gln167Lys) c.583C>A (p.Gln195Lys) n.348C>A | gnomAD v4 |
2 | g.47377021C= | CA2495810598 | EPCAM | c.499C= (p.Gln167=) c.583C= (p.Gln195=) n.348C= | |
2 | g.47377021C>G | CA346723952 | EPCAM | c.499C>G (p.Gln167Glu) c.583C>G (p.Gln195Glu) n.348C>G | dbSNP |
2 | g.47377021C>T | CA346723953 | EPCAM | c.499C>T (p.Gln167Ter) c.583C>T (p.Gln195Ter) n.348C>T | dbSNP |
2 | g.47377021dup | CA122702 | EPCAM | c.499dup (p.Gln167ProfsTer21) c.583dup (p.Gln195ProfsTer21) n.348dup | ClinVar dbSNP gnomAD v4 |
2 | g.47377022A>C | CA346723955 | EPCAM | c.500A>C (p.Gln167Pro) c.584A>C (p.Gln195Pro) n.349A>C | |
2 | g.47377022A>G | CA346723956 | EPCAM | c.500A>G (p.Gln167Arg) c.584A>G (p.Gln195Arg) n.349A>G | dbSNP gnomAD v4 |
2 | g.47377022A>T | CA346723954 | EPCAM | c.500A>T (p.Gln167Leu) c.584A>T (p.Gln195Leu) n.349A>T | dbSNP |
2 | g.47377024_47377026del | CA2576960546 | EPCAM | c.502_504del (p.Lys168del) c.586_588del (p.Lys196del) n.351_353del | gnomAD v4 |
2 | g.47377023G>A | CA336699 | EPCAM | c.501G>A (p.Gln167=) c.585G>A (p.Gln195=) n.350G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377023G>C | CA346723957 | EPCAM | c.501G>C (p.Gln167His) c.585G>C (p.Gln195His) n.350G>C | dbSNP |
2 | g.47377023G= | CA2495810599 | EPCAM | c.501G= (p.Gln167=) c.585G= (p.Gln195=) n.350G= | |
2 | g.47377023G>T | CA346723958 | EPCAM | c.501G>T (p.Gln167His) c.585G>T (p.Gln195His) n.350G>T | |
2 | g.47377024A>C | CA346723959 | EPCAM | c.502A>C (p.Lys168Gln) c.586A>C (p.Lys196Gln) n.351A>C | |
2 | g.47377024A>G | CA346723960 | EPCAM | c.502A>G (p.Lys168Glu) c.586A>G (p.Lys196Glu) n.351A>G | |
2 | g.47377024A>T | CA346723961 | EPCAM | c.502A>T (p.Lys168Ter) c.586A>T (p.Lys196Ter) n.351A>T | dbSNP |
2 | g.47377025A>C | CA346723964 | EPCAM | c.503A>C (p.Lys168Thr) c.587A>C (p.Lys196Thr) n.352A>C | |
2 | g.47377025A>G | CA346723962 | EPCAM | c.503A>G (p.Lys168Arg) c.587A>G (p.Lys196Arg) n.352A>G | |
2 | g.47377025A>T | CA346723963 | EPCAM | c.503A>T (p.Lys168Met) c.587A>T (p.Lys196Met) n.352A>T | |
2 | g.47377027_47377029del | CA2586964809 | EPCAM | c.505_507del (p.Glu169del) c.589_591del (p.Glu197del) n.354_356del | gnomAD v4 |
2 | g.47377026G>A | CA425947353 | EPCAM | c.504G>A (p.Lys168=) c.588G>A (p.Lys196=) n.353G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.47377026G>C | CA346723965 | EPCAM | c.504G>C (p.Lys168Asn) c.588G>C (p.Lys196Asn) n.353G>C | dbSNP |
2 | g.47377026G= | CA2495810600 | EPCAM | c.504G= (p.Lys168=) c.588G= (p.Lys196=) n.353G= | |
2 | g.47377026G>T | CA346723966 | EPCAM | c.504G>T (p.Lys168Asn) c.588G>T (p.Lys196Asn) n.353G>T | |
2 | g.47377027G>A | CA346723967 | EPCAM | c.505G>A (p.Glu169Lys) c.589G>A (p.Glu197Lys) n.354G>A | dbSNP |
2 | g.47377027G>C | CA346723968 | EPCAM | c.505G>C (p.Glu169Gln) c.589G>C (p.Glu197Gln) n.354G>C | dbSNP |
2 | g.47377027G>T | CA346723969 | EPCAM | c.505G>T (p.Glu169Ter) c.589G>T (p.Glu197Ter) n.354G>T | dbSNP |
2 | g.47377028A= | CA2495810601 | EPCAM | c.506A= (p.Glu169=) c.590A= (p.Glu197=) n.355A= | |
2 | g.47377028A>C | CA46641833 | EPCAM | c.506A>C (p.Glu169Ala) c.590A>C (p.Glu197Ala) n.355A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47377028A>G | CA346723971 | EPCAM | c.506A>G (p.Glu169Gly) c.590A>G (p.Glu197Gly) n.355A>G | |
2 | g.47377028A>T | CA346723970 | EPCAM | c.506A>T (p.Glu169Val) c.590A>T (p.Glu197Val) n.355A>T | |
2 | g.47377029G>A | CA425947354 | EPCAM | c.507G>A (p.Glu169=) c.591G>A (p.Glu197=) n.356G>A | |
2 | g.47377029G>C | CA1649038 | EPCAM | c.507G>C (p.Glu169Asp) c.591G>C (p.Glu197Asp) n.356G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47377029G= | CA2495810602 | EPCAM | c.507G= (p.Glu169=) c.591G= (p.Glu197=) n.356G= | |
2 | g.47377029G>T | CA346723972 | EPCAM | c.507G>T (p.Glu169Asp) c.591G>T (p.Glu197Asp) n.356G>T | dbSNP |
2 | g.47377029_47377032delinsGATC | CA2495810603 | EPCAM | c.507_510delinsGATC (p.Glu169=) c.591_594delinsGATC (p.Glu197=) n.356_359delinsGATC | |
2 | g.47377030A>C | CA346723973 | EPCAM | c.508A>C (p.Ile170Leu) c.592A>C (p.Ile198Leu) n.357A>C | |
2 | g.47377030A>G | CA346723974 | EPCAM | c.508A>G (p.Ile170Val) c.592A>G (p.Ile198Val) n.357A>G | dbSNP |
2 | g.47377030A>T | CA346723975 | EPCAM | c.508A>T (p.Ile170Phe) c.592A>T (p.Ile198Phe) n.357A>T | dbSNP |
2 | g.47377031_47377033del | CA532337731 | EPCAM | c.509_511del (p.Ile170del) c.593_595del (p.Ile198del) n.358_360del | ClinVar dbSNP gnomAD v2 |
2 | g.47377031T>A | CA346723976 | EPCAM | c.509T>A (p.Ile170Asn) c.593T>A (p.Ile198Asn) n.358T>A | dbSNP |
2 | g.47377031T>C | CA346723977 | EPCAM | c.509T>C (p.Ile170Thr) c.593T>C (p.Ile198Thr) n.358T>C | gnomAD v4 |
2 | g.47377031T>G | CA346723978 | EPCAM | c.509T>G (p.Ile170Ser) c.593T>G (p.Ile198Ser) n.358T>G | dbSNP |
2 | g.47377032C>A | CA425947357 | EPCAM | c.510C>A (p.Ile170=) c.594C>A (p.Ile198=) n.359C>A | dbSNP gnomAD v4 |
2 | g.47377032C>G | CA346723979 | EPCAM | c.510C>G (p.Ile170Met) c.594C>G (p.Ile198Met) n.359C>G | dbSNP |
2 | g.47377032C>T | CA425947358 | EPCAM | c.510C>T (p.Ile170=) c.594C>T (p.Ile198=) n.359C>T | dbSNP gnomAD v4 COSMIC |
2 | g.47377034_47377035del | CA2576960547 | EPCAM | c.512_513del (p.Thr171AsnfsTer16) c.596_597del (p.Thr199AsnfsTer16) n.361_362del | |
2 | g.47377033A>C | CA346723980 | EPCAM | c.511A>C (p.Thr171Pro) c.595A>C (p.Thr199Pro) n.360A>C | |
2 | g.47377033A>G | CA346723981 | EPCAM | c.511A>G (p.Thr171Ala) c.595A>G (p.Thr199Ala) n.360A>G | |
2 | g.47377033A>T | CA346723982 | EPCAM | c.511A>T (p.Thr171Ser) c.595A>T (p.Thr199Ser) n.360A>T | dbSNP |
2 | g.47377034C>A | CA346723984 | EPCAM | c.512C>A (p.Thr171Lys) c.596C>A (p.Thr199Lys) n.361C>A | |
2 | g.47377034C>G | CA346723985 | EPCAM | c.512C>G (p.Thr171Arg) c.596C>G (p.Thr199Arg) n.361C>G | dbSNP |
2 | g.47377034C>T | CA346723983 | EPCAM | c.512C>T (p.Thr171Ile) c.596C>T (p.Thr199Ile) n.361C>T | dbSNP gnomAD v4 |
2 | g.47377035A>C | CA425947363 | EPCAM | c.513A>C (p.Thr171=) c.597A>C (p.Thr199=) n.362A>C | |
2 | g.47377035A>G | CA425947365 | EPCAM | c.513A>G (p.Thr171=) c.597A>G (p.Thr199=) n.362A>G | gnomAD v4 |
2 | g.47377035A>T | CA425947366 | EPCAM | c.513A>T (p.Thr171=) c.597A>T (p.Thr199=) n.362A>T | |
2 | g.47377036A= | CA2495810604 | EPCAM | c.514A= (p.Thr172=) c.598A= (p.Thr200=) n.363A= | |
2 | g.47377036A>C | CA346723986 | EPCAM | c.514A>C (p.Thr172Pro) c.598A>C (p.Thr200Pro) n.363A>C | dbSNP |
2 | g.47377036A>G | CA46641868 | EPCAM | c.514A>G (p.Thr172Ala) c.598A>G (p.Thr200Ala) n.363A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377036A>T | CA346723987 | EPCAM | c.514A>T (p.Thr172Ser) c.598A>T (p.Thr200Ser) n.363A>T | dbSNP |
2 | g.47377037C>A | CA346723988 | EPCAM | c.515C>A (p.Thr172Lys) c.599C>A (p.Thr200Lys) n.364C>A | dbSNP |
2 | g.47377037C= | CA2495810605 | EPCAM | c.515C= (p.Thr172=) c.599C= (p.Thr200=) n.364C= | |
2 | g.47377037C>G | CA346723989 | EPCAM | c.515C>G (p.Thr172Arg) c.599C>G (p.Thr200Arg) n.364C>G | dbSNP |
2 | g.47377037C>T | CA332082 | EPCAM | c.515C>T (p.Thr172Met) c.599C>T (p.Thr200Met) n.364C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47377038G>A | CA338339 | EPCAM | c.516G>A (p.Thr172=) c.600G>A (p.Thr200=) n.365G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377038G>C | CA1649039 | EPCAM | c.516G>C (p.Thr172=) c.600G>C (p.Thr200=) n.365G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47377038G= | CA2495810606 | EPCAM | c.516G= (p.Thr172=) c.600G= (p.Thr200=) n.365G= | |
2 | g.47377038G>T | CA425947368 | EPCAM | c.516G>T (p.Thr172=) c.600G>T (p.Thr200=) n.365G>T | dbSNP |
2 | g.47377039C>A | CA346723990 | EPCAM | c.517C>A (p.Arg173Ser) c.601C>A (p.Arg201Ser) n.366C>A | ClinVar dbSNP gnomAD v4 |
2 | g.47377039C= | CA2495810607 | EPCAM | c.517C= (p.Arg173=) c.601C= (p.Arg201=) n.366C= | |
2 | g.47377039C>G | CA346723991 | EPCAM | c.517C>G (p.Arg173Gly) c.601C>G (p.Arg201Gly) n.366C>G | ClinVar dbSNP |
2 | g.47377039C>T | CA1649040 | EPCAM | c.517C>T (p.Arg173Cys) c.601C>T (p.Arg201Cys) n.366C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377039dup | CA2586964812 | EPCAM | c.517dup (p.Arg173ProfsTer15) c.601dup (p.Arg201ProfsTer15) n.366dup | |
2 | g.47377040G>A | CA337460 | EPCAM | c.518G>A (p.Arg173His) c.602G>A (p.Arg201His) n.367G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377040G>C | CA346723992 | EPCAM | c.518G>C (p.Arg173Pro) c.602G>C (p.Arg201Pro) n.367G>C | dbSNP |
2 | g.47377040G= | CA2495810608 | EPCAM | c.518G= (p.Arg173=) c.602G= (p.Arg201=) n.367G= | |
2 | g.47377040G>T | CA346723993 | EPCAM | c.518G>T (p.Arg173Leu) c.602G>T (p.Arg201Leu) n.367G>T | gnomAD v4 |
2 | g.47377041T>A | CA425947370 | EPCAM | c.519T>A (p.Arg173=) c.603T>A (p.Arg201=) n.368T>A | |
2 | g.47377041T>C | CA425947371 | EPCAM | c.519T>C (p.Arg173=) c.603T>C (p.Arg201=) n.368T>C | |
2 | g.47377041T>G | CA425947372 | EPCAM | c.519T>G (p.Arg173=) c.603T>G (p.Arg201=) n.368T>G | dbSNP |
2 | g.47377042T>A | CA346723994 | EPCAM | c.520T>A (p.Tyr174Asn) c.604T>A (p.Tyr202Asn) n.369T>A | dbSNP |
2 | g.47377042T>C | CA346723995 | EPCAM | c.520T>C (p.Tyr174His) c.604T>C (p.Tyr202His) n.369T>C | |
2 | g.47377042T>G | CA346723996 | EPCAM | c.520T>G (p.Tyr174Asp) c.604T>G (p.Tyr202Asp) n.369T>G | |
2 | g.47377043A>C | CA346723999 | EPCAM | c.521A>C (p.Tyr174Ser) c.605A>C (p.Tyr202Ser) n.370A>C | dbSNP |
2 | g.47377043A>G | CA346723998 | EPCAM | c.521A>G (p.Tyr174Cys) c.605A>G (p.Tyr202Cys) n.370A>G | ClinVar gnomAD v4 COSMIC |
2 | g.47377043A>T | CA346723997 | EPCAM | c.521A>T (p.Tyr174Phe) c.605A>T (p.Tyr202Phe) n.370A>T | |
2 | g.47377044T>A | CA346724000 | EPCAM | c.522T>A (p.Tyr174Ter) c.606T>A (p.Tyr202Ter) n.371T>A | dbSNP |
2 | g.47377044T>C | CA425947375 | EPCAM | c.522T>C (p.Tyr174=) c.606T>C (p.Tyr202=) n.371T>C | |
2 | g.47377044T>G | CA346724001 | EPCAM | c.522T>G (p.Tyr174Ter) c.606T>G (p.Tyr202Ter) n.371T>G | dbSNP |
2 | g.47377045C>A | CA346724002 | EPCAM | c.523C>A (p.Gln175Lys) c.607C>A (p.Gln203Lys) n.372C>A | gnomAD v4 |
2 | g.47377045C= | CA2495810609 | EPCAM | c.523C= (p.Gln175=) c.607C= (p.Gln203=) n.372C= | |
2 | g.47377045C>G | CA346724003 | EPCAM | c.523C>G (p.Gln175Glu) c.607C>G (p.Gln203Glu) n.372C>G | ClinVar dbSNP |
2 | g.47377045C>T | CA10581981 | EPCAM | c.523C>T (p.Gln175Ter) c.607C>T (p.Gln203Ter) n.372C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47377046A= | CA2495810610 | EPCAM | c.524A= (p.Gln175=) c.608A= (p.Gln203=) n.373A= | |
2 | g.47377046A>C | CA346724004 | EPCAM | c.524A>C (p.Gln175Pro) c.608A>C (p.Gln203Pro) n.373A>C | |
2 | g.47377046A>G | CA346724005 | EPCAM | c.524A>G (p.Gln175Arg) c.608A>G (p.Gln203Arg) n.373A>G | dbSNP |
2 | g.47377046A>T | CA346724006 | EPCAM | c.524A>T (p.Gln175Leu) c.608A>T (p.Gln203Leu) n.373A>T | |
2 | g.47377047A>C | CA346724007 | EPCAM | c.525A>C (p.Gln175His) c.609A>C (p.Gln203His) n.374A>C | |
2 | g.47377047A>G | CA425947376 | EPCAM | c.525A>G (p.Gln175=) c.609A>G (p.Gln203=) n.374A>G | ClinVar gnomAD v4 |
2 | g.47377047A>T | CA346724008 | EPCAM | c.525A>T (p.Gln175His) c.609A>T (p.Gln203His) n.374A>T | dbSNP |
2 | g.47377048C>A | CA346724009 | EPCAM | c.526C>A (p.Leu176Met) c.610C>A (p.Leu204Met) n.375C>A | gnomAD v4 |
2 | g.47377048C= | CA2495810611 | EPCAM | c.526C= (p.Leu176=) c.610C= (p.Leu204=) n.375C= | |
2 | g.47377048C>G | CA346724010 | EPCAM | c.526C>G (p.Leu176Val) c.610C>G (p.Leu204Val) n.375C>G | dbSNP gnomAD v4 |
2 | g.47377048C>T | CA425947378 | EPCAM | c.526C>T (p.Leu176=) c.610C>T (p.Leu204=) n.375C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47377049T>A | CA346724013 | EPCAM | c.527T>A (p.Leu176Gln) c.611T>A (p.Leu204Gln) n.376T>A | |
2 | g.47377049T>C | CA346724012 | EPCAM | c.527T>C (p.Leu176Pro) c.611T>C (p.Leu204Pro) n.376T>C | ClinVar gnomAD v4 |
2 | g.47377049T>G | CA346724011 | EPCAM | c.527T>G (p.Leu176Arg) c.611T>G (p.Leu204Arg) n.376T>G | |
2 | g.47377050G>A | CA425947379 | EPCAM | c.528G>A (p.Leu176=) c.612G>A (p.Leu204=) n.377G>A | dbSNP COSMIC |
2 | g.47377050G>C | CA425947382 | EPCAM | c.528G>C (p.Leu176=) c.612G>C (p.Leu204=) n.377G>C | dbSNP |
2 | g.47377050G>T | CA425947380 | EPCAM | c.528G>T (p.Leu176=) c.612G>T (p.Leu204=) n.377G>T | gnomAD v4 |
2 | g.47377051G>A | CA346724016 | EPCAM | c.529G>A (p.Asp177Asn) c.613G>A (p.Asp205Asn) n.378G>A | |
2 | g.47377051G>C | CA346724014 | EPCAM | c.529G>C (p.Asp177His) c.613G>C (p.Asp205His) n.378G>C | ClinVar dbSNP |
2 | g.47377051G>T | CA346724015 | EPCAM | c.529G>T (p.Asp177Tyr) c.613G>T (p.Asp205Tyr) n.378G>T | gnomAD v4 |
2 | g.47377052A>C | CA346724017 | EPCAM | c.530A>C (p.Asp177Ala) c.614A>C (p.Asp205Ala) n.379A>C | |
2 | g.47377052A>G | CA346724018 | EPCAM | c.530A>G (p.Asp177Gly) c.614A>G (p.Asp205Gly) n.379A>G | |
2 | g.47377052A>T | CA346724019 | EPCAM | c.530A>T (p.Asp177Val) c.614A>T (p.Asp205Val) n.379A>T | dbSNP |
2 | g.47377053T>A | CA346724020 | EPCAM | c.531T>A (p.Asp177Glu) c.615T>A (p.Asp205Glu) n.380T>A | dbSNP |
2 | g.47377053T>C | CA425947385 | EPCAM | c.531T>C (p.Asp177=) c.615T>C (p.Asp205=) n.380T>C | dbSNP |
2 | g.47377053T>G | CA346724021 | EPCAM | c.531T>G (p.Asp177Glu) c.615T>G (p.Asp205Glu) n.380T>G | |
2 | g.47377053T= | CA2495810612 | EPCAM | c.531T= (p.Asp177=) c.615T= (p.Asp205=) n.380T= | |
2 | g.47377054C>A | CA346724022 | EPCAM | c.532C>A (p.Pro178Thr) c.616C>A (p.Pro206Thr) n.381C>A | dbSNP gnomAD v4 |
2 | g.47377054C= | CA2495810613 | EPCAM | c.532C= (p.Pro178=) c.616C= (p.Pro206=) n.381C= | |
2 | g.47377054C>G | CA1649041 | EPCAM | c.532C>G (p.Pro178Ala) c.616C>G (p.Pro206Ala) n.381C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47377054C>T | CA346724023 | EPCAM | c.532C>T (p.Pro178Ser) c.616C>T (p.Pro206Ser) n.381C>T | dbSNP |
2 | g.47377055C>A | CA346724024 | EPCAM | c.533C>A (p.Pro178Gln) c.617C>A (p.Pro206Gln) n.382C>A | |
2 | g.47377055C= | CA2495810614 | EPCAM | c.533C= (p.Pro178=) c.617C= (p.Pro206=) n.382C= | |
2 | g.47377055C>G | CA346724025 | EPCAM | c.533C>G (p.Pro178Arg) c.617C>G (p.Pro206Arg) n.382C>G | ClinVar dbSNP |
2 | g.47377055C>T | CA350089 | EPCAM | c.533C>T (p.Pro178Leu) c.617C>T (p.Pro206Leu) n.382C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377056A>C | CA425947387 | EPCAM | c.534A>C (p.Pro178=) c.618A>C (p.Pro206=) n.383A>C | |
2 | g.47377056A>G | CA425947388 | EPCAM | c.534A>G (p.Pro178=) c.618A>G (p.Pro206=) n.383A>G | |
2 | g.47377056A>T | CA425947389 | EPCAM | c.534A>T (p.Pro178=) c.618A>T (p.Pro206=) n.383A>T | |
2 | g.47377059del | CA2658944345 | EPCAM | c.537del (p.Lys179AsnfsTer?) c.621del (p.Lys207AsnfsTer?) n.386del | gnomAD v4 |
2 | g.47377057A>C | CA346724028 | EPCAM | c.535A>C (p.Lys179Gln) c.619A>C (p.Lys207Gln) n.384A>C | |
2 | g.47377057A>G | CA346724026 | EPCAM | c.535A>G (p.Lys179Glu) c.619A>G (p.Lys207Glu) n.384A>G | |
2 | g.47377057A>T | CA346724027 | EPCAM | c.535A>T (p.Lys179Ter) c.619A>T (p.Lys207Ter) n.384A>T | |
2 | g.47377058A>C | CA346724029 | EPCAM | c.536A>C (p.Lys179Thr) c.620A>C (p.Lys207Thr) n.385A>C | |
2 | g.47377058A>G | CA346724030 | EPCAM | c.536A>G (p.Lys179Arg) c.620A>G (p.Lys207Arg) n.385A>G | |
2 | g.47377058A>T | CA346724031 | EPCAM | c.536A>T (p.Lys179Ile) c.620A>T (p.Lys207Ile) n.385A>T | |
2 | g.47377059A= | CA2495810615 | EPCAM | c.537A= (p.Lys179=) c.621A= (p.Lys207=) n.386A= | |
2 | g.47377059A>C | CA346724032 | EPCAM | c.537A>C (p.Lys179Asn) c.621A>C (p.Lys207Asn) n.386A>C | |
2 | g.47377059A>G | CA425947393 | EPCAM | c.537A>G (p.Lys179=) c.621A>G (p.Lys207=) n.386A>G | gnomAD v4 |
2 | g.47377059A>T | CA46641900 | EPCAM | c.537A>T (p.Lys179Asn) c.621A>T (p.Lys207Asn) n.386A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47377060T>A | CA346724033 | EPCAM | c.538T>A (p.Phe180Ile) c.622T>A (p.Phe208Ile) n.387T>A | dbSNP COSMIC |
2 | g.47377060T>C | CA346724034 | EPCAM | c.538T>C (p.Phe180Leu) c.622T>C (p.Phe208Leu) n.387T>C | gnomAD v4 |
2 | g.47377060T>G | CA346724035 | EPCAM | c.538T>G (p.Phe180Val) c.622T>G (p.Phe208Val) n.387T>G | |
2 | g.47377062del | CA2586964817 | EPCAM | c.540del (p.Phe180LeufsTer30) c.624del (p.Phe208LeufsTer30) n.389del | |
2 | g.47377061T>A | CA346724036 | EPCAM | c.539T>A (p.Phe180Tyr) c.623T>A (p.Phe208Tyr) n.388T>A | |
2 | g.47377061T>C | CA346724037 | EPCAM | c.539T>C (p.Phe180Ser) c.623T>C (p.Phe208Ser) n.388T>C | dbSNP |
2 | g.47377061T>G | CA346724038 | EPCAM | c.539T>G (p.Phe180Cys) c.623T>G (p.Phe208Cys) n.388T>G | |
2 | g.47377062T>A | CA346724039 | EPCAM | c.540T>A (p.Phe180Leu) c.624T>A (p.Phe208Leu) n.389T>A | dbSNP |
2 | g.47377062T>C | CA425947395 | EPCAM | c.540T>C (p.Phe180=) c.624T>C (p.Phe208=) n.389T>C | |
2 | g.47377062T>G | CA346724040 | EPCAM | c.540T>G (p.Phe180Leu) c.624T>G (p.Phe208Leu) n.389T>G | |
2 | g.47377063A>C | CA346724042 | EPCAM | c.541A>C (p.Ile181Leu) c.625A>C (p.Ile209Leu) n.390A>C | |
2 | g.47377063A>G | CA346724043 | EPCAM | c.541A>G (p.Ile181Val) c.625A>G (p.Ile209Val) n.390A>G | dbSNP |
2 | g.47377063A>T | CA346724041 | EPCAM | c.541A>T (p.Ile181Phe) c.625A>T (p.Ile209Phe) n.390A>T | |
2 | g.47377064T>A | CA346724044 | EPCAM | c.542T>A (p.Ile181Asn) c.626T>A (p.Ile209Asn) n.391T>A | dbSNP |
2 | g.47377064T>C | CA346724046 | EPCAM | c.542T>C (p.Ile181Thr) c.626T>C (p.Ile209Thr) n.391T>C | |
2 | g.47377064T>G | CA346724045 | EPCAM | c.542T>G (p.Ile181Ser) c.626T>G (p.Ile209Ser) n.391T>G | |
2 | g.47377065C>A | CA425947397 | EPCAM | c.543C>A (p.Ile181=) c.627C>A (p.Ile209=) n.392C>A | dbSNP gnomAD v4 |
2 | g.47377065C>G | CA346724047 | EPCAM | c.543C>G (p.Ile181Met) c.627C>G (p.Ile209Met) n.392C>G | dbSNP gnomAD v4 |
2 | g.47377065C>T | CA425947399 | EPCAM | c.543C>T (p.Ile181=) c.627C>T (p.Ile209=) n.392C>T | ClinVar |
2 | g.47377066A>C | CA346724048 | EPCAM | c.544A>C (p.Thr182Pro) c.628A>C (p.Thr210Pro) n.393A>C | dbSNP |
2 | g.47377066A>G | CA346724049 | EPCAM | c.544A>G (p.Thr182Ala) c.628A>G (p.Thr210Ala) n.393A>G | dbSNP gnomAD v4 |
2 | g.47377066A>T | CA346724050 | EPCAM | c.544A>T (p.Thr182Ser) c.628A>T (p.Thr210Ser) n.393A>T | dbSNP |
2 | g.47377067C>A | CA346724051 | EPCAM | c.545C>A (p.Thr182Lys) c.629C>A (p.Thr210Lys) n.394C>A | dbSNP gnomAD v4 |
2 | g.47377067C= | CA2495810616 | EPCAM | c.545C= (p.Thr182=) c.629C= (p.Thr210=) n.394C= | |
2 | g.47377067C>G | CA346724052 | EPCAM | c.545C>G (p.Thr182Arg) c.629C>G (p.Thr210Arg) n.394C>G | ClinVar dbSNP |
2 | g.47377067C>T | CA346724053 | EPCAM | c.545C>T (p.Thr182Met) c.629C>T (p.Thr210Met) n.394C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377068G>A | CA1649042 | EPCAM | c.546G>A (p.Thr182=) c.630G>A (p.Thr210=) n.395G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377068G>C | CA425947431 | EPCAM | c.546G>C (p.Thr182=) c.630G>C (p.Thr210=) n.395G>C | dbSNP |
2 | g.47377068G= | CA2495810617 | EPCAM | c.546G= (p.Thr182=) c.630G= (p.Thr210=) n.395G= | |
2 | g.47377068G>T | CA425947432 | EPCAM | c.546G>T (p.Thr182=) c.630G>T (p.Thr210=) n.395G>T | |
2 | g.47377069A= | CA2495810618 | EPCAM | c.547A= (p.Ser183=) c.631A= (p.Ser211=) n.396A= | |
2 | g.47377069A>C | CA346724054 | EPCAM | c.547A>C (p.Ser183Arg) c.631A>C (p.Ser211Arg) n.396A>C | |
2 | g.47377069A>G | CA346724055 | EPCAM | c.547A>G (p.Ser183Gly) c.631A>G (p.Ser211Gly) n.396A>G | gnomAD v4 |
2 | g.47377069A>T | CA346724056 | EPCAM | c.547A>T (p.Ser183Cys) c.631A>T (p.Ser211Cys) n.396A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377070G>A | CA346724059 | EPCAM | c.548G>A (p.Ser183Asn) c.632G>A (p.Ser211Asn) n.397G>A | dbSNP gnomAD v4 |
2 | g.47377070G>C | CA346724058 | EPCAM | c.548G>C (p.Ser183Thr) c.632G>C (p.Ser211Thr) n.397G>C | dbSNP |
2 | g.47377070G>T | CA346724057 | EPCAM | c.548G>T (p.Ser183Ile) c.632G>T (p.Ser211Ile) n.397G>T | |
2 | g.47377071T>A | CA346724060 | EPCAM | c.549T>A (p.Ser183Arg) c.633T>A (p.Ser211Arg) n.398T>A | dbSNP |
2 | g.47377071T>C | CA425947447 | EPCAM | c.549T>C (p.Ser183=) c.633T>C (p.Ser211=) n.398T>C | |
2 | g.47377071T>G | CA346724061 | EPCAM | c.549T>G (p.Ser183Arg) c.633T>G (p.Ser211Arg) n.398T>G | |
2 | g.47377072A= | CA2495810619 | EPCAM | c.550A= (p.Ile184=) c.634A= (p.Ile212=) n.399A= | |
2 | g.47377072A>C | CA346724062 | EPCAM | c.550A>C (p.Ile184Leu) c.634A>C (p.Ile212Leu) n.399A>C | |
2 | g.47377072A>G | CA346724063 | EPCAM | c.550A>G (p.Ile184Val) c.634A>G (p.Ile212Val) n.399A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47377072A>T | CA346724064 | EPCAM | c.550A>T (p.Ile184Phe) c.634A>T (p.Ile212Phe) n.399A>T | dbSNP |
2 | g.47377073T>A | CA346724065 | EPCAM | c.551T>A (p.Ile184Asn) c.635T>A (p.Ile212Asn) n.400T>A | |
2 | g.47377073T>C | CA346724066 | EPCAM | c.551T>C (p.Ile184Thr) c.635T>C (p.Ile212Thr) n.400T>C | |
2 | g.47377073T>G | CA1649043 | EPCAM | c.551T>G (p.Ile184Ser) c.635T>G (p.Ile212Ser) n.400T>G | dbSNP ExAC gnomAD v2 |
2 | g.47377073T= | CA2495810620 | EPCAM | c.551T= (p.Ile184=) c.635T= (p.Ile212=) n.400T= | |
2 | g.47377076del | CA2658944346 | EPCAM | c.554del (p.Leu185CysfsTer25) c.638del (p.Leu213CysfsTer25) n.403del | gnomAD v4 |
2 | g.47377074T>A | CA425947462 | EPCAM | c.552T>A (p.Ile184=) c.636T>A (p.Ile212=) n.401T>A | COSMIC |
2 | g.47377074T>C | CA425947464 | EPCAM | c.552T>C (p.Ile184=) c.636T>C (p.Ile212=) n.401T>C | |
2 | g.47377074T>G | CA346724067 | EPCAM | c.552T>G (p.Ile184Met) c.636T>G (p.Ile212Met) n.401T>G | |
2 | g.47377075T>A | CA346724068 | EPCAM | c.553T>A (p.Leu185Met) c.637T>A (p.Leu213Met) n.402T>A | |
2 | g.47377075T>C | CA425947471 | EPCAM | c.553T>C (p.Leu185=) c.637T>C (p.Leu213=) n.402T>C | |
2 | g.47377075T>G | CA346724069 | EPCAM | c.553T>G (p.Leu185Val) c.637T>G (p.Leu213Val) n.402T>G | |
2 | g.47377076T>A | CA346724072 | EPCAM | c.554T>A (p.Leu185Ter) c.638T>A (p.Leu213Ter) n.403T>A | |
2 | g.47377076T>C | CA346724071 | EPCAM | c.554T>C (p.Leu185Ser) c.638T>C (p.Leu213Ser) n.403T>C | |
2 | g.47377076T>G | CA346724070 | EPCAM | c.554T>G (p.Leu185Trp) c.638T>G (p.Leu213Trp) n.403T>G | |
2 | g.47377077G>A | CA425947480 | EPCAM | c.555G>A (p.Leu185=) c.639G>A (p.Leu213=) n.404G>A | dbSNP |
2 | g.47377077G>C | CA346724073 | EPCAM | c.555G>C (p.Leu185Phe) c.639G>C (p.Leu213Phe) n.404G>C | dbSNP |
2 | g.47377077G= | CA2495810621 | EPCAM | c.555G= (p.Leu185=) c.639G= (p.Leu213=) n.404G= | |
2 | g.47377077G>T | CA346724074 | EPCAM | c.555G>T (p.Leu185Phe) c.639G>T (p.Leu213Phe) n.404G>T | dbSNP |
2 | g.47377078G>A | CA346724075 | EPCAM | c.555+1G>A (n.555+1G>A) c.639+1G>A (n.639+1G>A) n.404+1G>A | gnomAD v4 |
2 | g.47377078G>C | CA346724076 | EPCAM | c.555+1G>C (n.555+1G>C) c.639+1G>C (n.639+1G>C) n.404+1G>C | dbSNP gnomAD v4 |
2 | g.47377078G>T | CA346724077 | EPCAM | c.555+1G>T (n.555+1G>T) c.639+1G>T (n.639+1G>T) n.404+1G>T | |
2 | g.47377079T>A | CA346724078 | EPCAM | c.555+2T>A (n.555+2T>A) c.639+2T>A (n.639+2T>A) n.404+2T>A | dbSNP |
2 | g.47377079T>C | CA346724079 | EPCAM | c.555+2T>C (n.555+2T>C) c.639+2T>C (n.639+2T>C) n.404+2T>C | dbSNP gnomAD v4 |
2 | g.47377079T>G | CA346724080 | EPCAM | c.555+2T>G (n.555+2T>G) c.639+2T>G (n.639+2T>G) n.404+2T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377079T= | CA2495810622 | EPCAM | c.555+2T= (n.555+2T=) c.639+2T= (n.639+2T=) n.404+2T= | |
2 | g.47377080A>G | CA2658944347 | EPCAM | c.555+3A>G (n.555+3A>G) c.639+3A>G (n.639+3A>G) n.404+3A>G | gnomAD v4 |
2 | g.47377080A>T | CA2699188959 | EPCAM | c.555+3A>T (n.555+3A>T) c.639+3A>T (n.639+3A>T) n.404+3A>T | dbSNP |
2 | g.47377081T>A | CA2699189223 | EPCAM | c.555+4T>A (n.555+4T>A) c.639+4T>A (n.639+4T>A) n.404+4T>A | dbSNP |
2 | g.47377081T>G | CA2658944348 | EPCAM | c.555+4T>G (n.555+4T>G) c.639+4T>G (n.639+4T>G) n.404+4T>G | gnomAD v4 |
2 | g.47377082G>A | CA2699189224 | EPCAM | c.555+5G>A (n.555+5G>A) c.639+5G>A (n.639+5G>A) n.404+5G>A | dbSNP |
2 | g.47377082G>C | CA2699189225 | EPCAM | c.555+5G>C (n.555+5G>C) c.639+5G>C (n.639+5G>C) n.404+5G>C | dbSNP |
2 | g.47377083A= | CA2495810624 | EPCAM | c.555+6A= (n.555+6A=) c.639+6A= (n.639+6A=) n.404+6A= | |
2 | g.47377083A>G | CA2495810625 | EPCAM | c.555+6A>G (n.555+6A>G) c.639+6A>G (n.639+6A>G) n.404+6A>G | dbSNP gnomAD v4 |
2 | g.47377083A>T | CA2699137176 | EPCAM | c.555+6A>T (n.555+6A>T) c.639+6A>T (n.639+6A>T) n.404+6A>T | dbSNP |
2 | g.47377083_47377085delinsATT | CA2495810623 | EPCAM | c.555+6_555+8delinsATT (n.555+6_555+8delinsATT) c.639+6_639+8delinsATT (n.639+6_639+8delinsATT) n.404+6_404+8delinsATT | |
2 | g.47377084T>A | CA349299 | EPCAM | c.555+7T>A (n.555+7T>A) c.639+7T>A (n.639+7T>A) n.404+7T>A | ClinVar dbSNP |
2 | g.47377084T>C | CA2658944350 | EPCAM | c.555+7T>C (n.555+7T>C) c.639+7T>C (n.639+7T>C) n.404+7T>C | gnomAD v4 |
2 | g.47377084T= | CA2495810626 | EPCAM | c.555+7T= (n.555+7T=) c.639+7T= (n.639+7T=) n.404+7T= | |
2 | g.47377089dup | CA913090559 | EPCAM | c.555+12dup (n.555+12dup) c.639+12dup (n.639+12dup) n.404+12dup | gnomAD v4 |
2 | g.47377089del | CA2658944349 | EPCAM | c.555+12del (n.555+12del) c.639+12del (n.639+12del) n.404+12del | gnomAD v4 |
2 | g.47377088_47377089del | CA1649044 | EPCAM | c.555+11_555+12del (n.555+11_555+12del) c.639+11_639+12del (n.639+11_639+12del) n.404+11_404+12del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47377085T>A | CA2699189226 | EPCAM | c.555+8T>A (n.555+8T>A) c.639+8T>A (n.639+8T>A) n.404+8T>A | dbSNP |
2 | g.47377086T>C | CA769444288 | EPCAM | c.555+9T>C (n.555+9T>C) c.639+9T>C (n.639+9T>C) n.404+9T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47377086T= | CA2495810627 | EPCAM | c.555+9T= (n.555+9T=) c.639+9T= (n.639+9T=) n.404+9T= | |
2 | g.47377087T>A | CA2699137177 | EPCAM | c.555+10T>A (n.555+10T>A) c.639+10T>A (n.639+10T>A) n.404+10T>A | dbSNP |
2 | g.47377087T>C | CA2495810629 | EPCAM | c.555+10T>C (n.555+10T>C) c.639+10T>C (n.639+10T>C) n.404+10T>C | dbSNP |
2 | g.47377087T= | CA2495810628 | EPCAM | c.555+10T= (n.555+10T=) c.639+10T= (n.639+10T=) n.404+10T= | |
2 | g.47377089T>A | CA2699100956 | EPCAM | c.555+12T>A (n.555+12T>A) c.639+12T>A (n.639+12T>A) n.404+12T>A | dbSNP |
2 | g.47377089T>C | CA769444291 | EPCAM | c.555+12T>C (n.555+12T>C) c.639+12T>C (n.639+12T>C) n.404+12T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47377089T= | CA2495810630 | EPCAM | c.555+12T= (n.555+12T=) c.639+12T= (n.639+12T=) n.404+12T= | |
2 | g.47377090A= | CA2495810631 | EPCAM | c.555+13A= (n.555+13A=) c.639+13A= (n.639+13A=) n.404+13A= | |
2 | g.47377090A>G | CA532337755 | EPCAM | c.555+13A>G (n.555+13A>G) c.639+13A>G (n.639+13A>G) n.404+13A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47377090A>T | CA2699119082 | EPCAM | c.555+13A>T (n.555+13A>T) c.639+13A>T (n.639+13A>T) n.404+13A>T | dbSNP |
2 | g.47377091del | CA2658944351 | EPCAM | c.555+14del (n.555+14del) c.639+14del (n.639+14del) n.404+14del | gnomAD v4 |
2 | g.47377091A= | CA2495810632 | EPCAM | c.555+14A= (n.555+14A=) c.639+14A= (n.639+14A=) n.404+14A= | |
2 | g.47377091A>G | CA1649045 | EPCAM | c.555+14A>G (n.555+14A>G) c.639+14A>G (n.639+14A>G) n.404+14A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47377092del | CA2699189231 | EPCAM | c.555+15del (n.555+15del) c.639+15del (n.639+15del) n.404+15del | dbSNP |
2 | g.47377092T>A | CA2699189229 | EPCAM | c.555+15T>A (n.555+15T>A) c.639+15T>A (n.639+15T>A) n.404+15T>A | dbSNP |
2 | g.47377092T>C | CA2658944352 | EPCAM | c.555+15T>C (n.555+15T>C) c.639+15T>C (n.639+15T>C) n.404+15T>C | gnomAD v4 |
2 | g.47377093A>G | CA2658944353 | EPCAM | c.555+16A>G (n.555+16A>G) c.639+16A>G (n.639+16A>G) n.404+16A>G | gnomAD v4 |
2 | g.47377094A>C | CA2658944355 | EPCAM | c.555+17A>C (n.555+17A>C) c.639+17A>C (n.639+17A>C) n.404+17A>C | gnomAD v4 |
2 | g.47377096_47377099del | CA2658944354 | EPCAM | c.555+19_555+22del (n.555+19_555+22del) c.639+19_639+22del (n.639+19_639+22del) n.404+19_404+22del | gnomAD v4 |
2 | g.47377095G>A | CA2658944356 | EPCAM | c.555+18G>A (n.555+18G>A) c.639+18G>A (n.639+18G>A) n.404+18G>A | dbSNP gnomAD v4 |
2 | g.47377096T>C | CA2658944357 | EPCAM | c.555+19T>C (n.555+19T>C) c.639+19T>C (n.639+19T>C) n.404+19T>C | gnomAD v4 |
2 | g.47377096T>G | CA532337758 | EPCAM | c.555+19T>G (n.555+19T>G) c.639+19T>G (n.639+19T>G) n.404+19T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47377096T= | CA2495810633 | EPCAM | c.555+19T= (n.555+19T=) c.639+19T= (n.639+19T=) n.404+19T= | |
2 | g.47377097G>A | CA2658944358 | EPCAM | c.555+20G>A (n.555+20G>A) c.639+20G>A (n.639+20G>A) n.404+20G>A | dbSNP gnomAD v4 |
2 | g.47377097G>C | CA2699189246 | EPCAM | c.555+20G>C (n.555+20G>C) c.639+20G>C (n.639+20G>C) n.404+20G>C | dbSNP |
2 | g.47377097G>T | CA2658944359 | EPCAM | c.555+20G>T (n.555+20G>T) c.639+20G>T (n.639+20G>T) n.404+20G>T | gnomAD v4 |
2 | g.47377099G>A | CA647036666 | EPCAM | c.555+22G>A (n.555+22G>A) c.639+22G>A (n.639+22G>A) n.404+22G>A | dbSNP COSMIC |
2 | g.47377099G>C | CA2658944360 | EPCAM | c.555+22G>C (n.555+22G>C) c.639+22G>C (n.639+22G>C) n.404+22G>C | dbSNP gnomAD v4 |
2 | g.47377100C>A | CA2658944361 | EPCAM | c.555+23C>A (n.555+23C>A) c.639+23C>A (n.639+23C>A) n.404+23C>A | gnomAD v4 |
2 | g.47377100C= | CA2495810634 | EPCAM | c.555+23C= (n.555+23C=) c.639+23C= (n.639+23C=) n.404+23C= | |
2 | g.47377100C>G | CA2658944362 | EPCAM | c.555+23C>G (n.555+23C>G) c.639+23C>G (n.639+23C>G) n.404+23C>G | gnomAD v4 |
2 | g.47377100C>T | CA2495810635 | EPCAM | c.555+23C>T (n.555+23C>T) c.639+23C>T (n.639+23C>T) n.404+23C>T | dbSNP gnomAD v4 |
2 | g.47377103del | CA2576960555 | EPCAM | c.555+26del (n.555+26del) c.639+26del (n.639+26del) n.404+26del | |
2 | g.47377103T>A | CA2576960556 | EPCAM | c.555+26T>A (n.555+26T>A) c.639+26T>A (n.639+26T>A) n.404+26T>A | |
2 | g.47377104A>G | CA2658944363 | EPCAM | c.555+27A>G (n.555+27A>G) c.639+27A>G (n.639+27A>G) n.404+27A>G | dbSNP gnomAD v4 |
2 | g.47377105G>A | CA2699081440 | EPCAM | c.555+28G>A (n.555+28G>A) c.639+28G>A (n.639+28G>A) n.404+28G>A | dbSNP |
2 | g.47377105G>C | CA2699081439 | EPCAM | c.555+28G>C (n.555+28G>C) c.639+28G>C (n.639+28G>C) n.404+28G>C | dbSNP |
2 | g.47377105G= | CA2495810636 | EPCAM | c.555+28G= (n.555+28G=) c.639+28G= (n.639+28G=) n.404+28G= | |
2 | g.47377105G>T | CA1649046 | EPCAM | c.555+28G>T (n.555+28G>T) c.639+28G>T (n.639+28G>T) n.404+28G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377106C>A | CA2576960557 | EPCAM | c.555+29C>A (n.555+29C>A) c.639+29C>A (n.639+29C>A) n.404+29C>A | gnomAD v4 |
2 | g.47377106C= | CA2495810637 | EPCAM | c.555+29C= (n.555+29C=) c.639+29C= (n.639+29C=) n.404+29C= | |
2 | g.47377106C>G | CA2576960558 | EPCAM | c.555+29C>G (n.555+29C>G) c.639+29C>G (n.639+29C>G) n.404+29C>G | |
2 | g.47377106C>T | CA532337762 | EPCAM | c.555+29C>T (n.555+29C>T) c.639+29C>T (n.639+29C>T) n.404+29C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47377107A>G | CA2658944364 | EPCAM | c.555+30A>G (n.555+30A>G) c.639+30A>G (n.639+30A>G) n.404+30A>G | gnomAD v4 |
2 | g.47377108G>A | CA2658944365 | EPCAM | c.555+31G>A (n.555+31G>A) c.639+31G>A (n.639+31G>A) n.404+31G>A | dbSNP gnomAD v4 |
2 | g.47377109A>T | CA2699189347 | EPCAM | c.555+32A>T (n.555+32A>T) c.639+32A>T (n.639+32A>T) n.404+32A>T | dbSNP |
2 | g.47377110C>A | CA2576960560 | EPCAM | c.555+33C>A (n.555+33C>A) c.639+33C>A (n.639+33C>A) n.404+33C>A | gnomAD v4 |
2 | g.47377110C= | CA2495810638 | EPCAM | c.555+33C= (n.555+33C=) c.639+33C= (n.639+33C=) n.404+33C= | |
2 | g.47377110C>G | CA532337763 | EPCAM | c.555+33C>G (n.555+33C>G) c.639+33C>G (n.639+33C>G) n.404+33C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47377110C>T | CA2576960559 | EPCAM | c.555+33C>T (n.555+33C>T) c.639+33C>T (n.639+33C>T) n.404+33C>T | dbSNP |
2 | g.47377110_47377114delinsCAGTT | CA2495810639 | EPCAM | c.555+33_555+37delinsCAGTT (n.555+33_555+37delinsCAGTT) c.639+33_639+37delinsCAGTT (n.639+33_639+37delinsCAGTT) n.404+33_404+37delinsCAGTT | |
2 | g.47377111A= | CA2495810642 | EPCAM | c.555+34A= (n.555+34A=) c.639+34A= (n.639+34A=) n.404+34A= | |
2 | g.47377111A>G | CA46641926 | EPCAM | c.555+34A>G (n.555+34A>G) c.639+34A>G (n.639+34A>G) n.404+34A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47377111A>T | CA2749800295 | EPCAM | c.555+34A>T (n.555+34A>T) c.639+34A>T (n.639+34A>T) n.404+34A>T | |
2 | g.47377111_47377112delinsAG | CA2495810641 | EPCAM | c.555+34_555+35delinsAG (n.555+34_555+35delinsAG) c.639+34_639+35delinsAG (n.639+34_639+35delinsAG) n.404+34_404+35delinsAG | |
2 | g.47377111_47377114del | CA2495810640 | EPCAM | c.555+34_555+37del (n.555+34_555+37del) c.639+34_639+37del (n.639+34_639+37del) n.404+34_404+37del | dbSNP |