Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47377022A>CCA346723955EPCAMc.500A>C (p.Gln167Pro)
c.584A>C (p.Gln195Pro)
n.349A>C
2g.47377022A>GCA346723956EPCAMc.500A>G (p.Gln167Arg)
c.584A>G (p.Gln195Arg)
n.349A>G
 dbSNP gnomAD v4
2g.47377022A>TCA346723954EPCAMc.500A>T (p.Gln167Leu)
c.584A>T (p.Gln195Leu)
n.349A>T
 dbSNP
2g.47377024_47377026delCA2576960546EPCAMc.502_504del (p.Lys168del)
c.586_588del (p.Lys196del)
n.351_353del
 gnomAD v4
2g.47377023G>ACA336699EPCAMc.501G>A (p.Gln167=)
c.585G>A (p.Gln195=)
n.350G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47377023G>CCA346723957EPCAMc.501G>C (p.Gln167His)
c.585G>C (p.Gln195His)
n.350G>C
 dbSNP
2g.47377023G=CA2495810599EPCAMc.501G= (p.Gln167=)
c.585G= (p.Gln195=)
n.350G=
2g.47377023G>TCA346723958EPCAMc.501G>T (p.Gln167His)
c.585G>T (p.Gln195His)
n.350G>T
2g.47377024A>CCA346723959EPCAMc.502A>C (p.Lys168Gln)
c.586A>C (p.Lys196Gln)
n.351A>C
2g.47377024A>GCA346723960EPCAMc.502A>G (p.Lys168Glu)
c.586A>G (p.Lys196Glu)
n.351A>G
2g.47377024A>TCA346723961EPCAMc.502A>T (p.Lys168Ter)
c.586A>T (p.Lys196Ter)
n.351A>T
 dbSNP
2g.47377025A>CCA346723964EPCAMc.503A>C (p.Lys168Thr)
c.587A>C (p.Lys196Thr)
n.352A>C
2g.47377025A>GCA346723962EPCAMc.503A>G (p.Lys168Arg)
c.587A>G (p.Lys196Arg)
n.352A>G
2g.47377025A>TCA346723963EPCAMc.503A>T (p.Lys168Met)
c.587A>T (p.Lys196Met)
n.352A>T
2g.47377027_47377029delCA2586964809EPCAMc.505_507del (p.Glu169del)
c.589_591del (p.Glu197del)
n.354_356del
 gnomAD v4
2g.47377026G>ACA425947353EPCAMc.504G>A (p.Lys168=)
c.588G>A (p.Lys196=)
n.353G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.47377026G>CCA346723965EPCAMc.504G>C (p.Lys168Asn)
c.588G>C (p.Lys196Asn)
n.353G>C
 dbSNP
2g.47377026G=CA2495810600EPCAMc.504G= (p.Lys168=)
c.588G= (p.Lys196=)
n.353G=
2g.47377026G>TCA346723966EPCAMc.504G>T (p.Lys168Asn)
c.588G>T (p.Lys196Asn)
n.353G>T
2g.47377027G>ACA346723967EPCAMc.505G>A (p.Glu169Lys)
c.589G>A (p.Glu197Lys)
n.354G>A
 dbSNP
2g.47377027G>CCA346723968EPCAMc.505G>C (p.Glu169Gln)
c.589G>C (p.Glu197Gln)
n.354G>C
 dbSNP
2g.47377027G>TCA346723969EPCAMc.505G>T (p.Glu169Ter)
c.589G>T (p.Glu197Ter)
n.354G>T
 dbSNP
2g.47377028A=CA2495810601EPCAMc.506A= (p.Glu169=)
c.590A= (p.Glu197=)
n.355A=
2g.47377028A>CCA46641833EPCAMc.506A>C (p.Glu169Ala)
c.590A>C (p.Glu197Ala)
n.355A>C
 dbSNP gnomAD v3 gnomAD v4
2g.47377028A>GCA346723971EPCAMc.506A>G (p.Glu169Gly)
c.590A>G (p.Glu197Gly)
n.355A>G
2g.47377028A>TCA346723970EPCAMc.506A>T (p.Glu169Val)
c.590A>T (p.Glu197Val)
n.355A>T
2g.47377029G>ACA425947354EPCAMc.507G>A (p.Glu169=)
c.591G>A (p.Glu197=)
n.356G>A
2g.47377029G>CCA1649038EPCAMc.507G>C (p.Glu169Asp)
c.591G>C (p.Glu197Asp)
n.356G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.47377029G=CA2495810602EPCAMc.507G= (p.Glu169=)
c.591G= (p.Glu197=)
n.356G=
2g.47377029G>TCA346723972EPCAMc.507G>T (p.Glu169Asp)
c.591G>T (p.Glu197Asp)
n.356G>T
 dbSNP
2g.47377029_47377032delinsGATCCA2495810603EPCAMc.507_510delinsGATC (p.Glu169=)
c.591_594delinsGATC (p.Glu197=)
n.356_359delinsGATC
2g.47377030A>CCA346723973EPCAMc.508A>C (p.Ile170Leu)
c.592A>C (p.Ile198Leu)
n.357A>C
2g.47377030A>GCA346723974EPCAMc.508A>G (p.Ile170Val)
c.592A>G (p.Ile198Val)
n.357A>G
 dbSNP
2g.47377030A>TCA346723975EPCAMc.508A>T (p.Ile170Phe)
c.592A>T (p.Ile198Phe)
n.357A>T
 dbSNP
2g.47377031_47377033delCA532337731EPCAMc.509_511del (p.Ile170del)
c.593_595del (p.Ile198del)
n.358_360del
 ClinVar dbSNP gnomAD v2
2g.47377031T>ACA346723976EPCAMc.509T>A (p.Ile170Asn)
c.593T>A (p.Ile198Asn)
n.358T>A
 dbSNP
2g.47377031T>CCA346723977EPCAMc.509T>C (p.Ile170Thr)
c.593T>C (p.Ile198Thr)
n.358T>C
 gnomAD v4
2g.47377031T>GCA346723978EPCAMc.509T>G (p.Ile170Ser)
c.593T>G (p.Ile198Ser)
n.358T>G
 dbSNP
2g.47377032C>ACA425947357EPCAMc.510C>A (p.Ile170=)
c.594C>A (p.Ile198=)
n.359C>A
 dbSNP gnomAD v4
2g.47377032C>GCA346723979EPCAMc.510C>G (p.Ile170Met)
c.594C>G (p.Ile198Met)
n.359C>G
 dbSNP
2g.47377032C>TCA425947358EPCAMc.510C>T (p.Ile170=)
c.594C>T (p.Ile198=)
n.359C>T
 dbSNP gnomAD v4 COSMIC
2g.47377034_47377035delCA2576960547EPCAMc.512_513del (p.Thr171AsnfsTer16)
c.596_597del (p.Thr199AsnfsTer16)
n.361_362del
2g.47377033A>CCA346723980EPCAMc.511A>C (p.Thr171Pro)
c.595A>C (p.Thr199Pro)
n.360A>C
2g.47377033A>GCA346723981EPCAMc.511A>G (p.Thr171Ala)
c.595A>G (p.Thr199Ala)
n.360A>G
2g.47377033A>TCA346723982EPCAMc.511A>T (p.Thr171Ser)
c.595A>T (p.Thr199Ser)
n.360A>T
 dbSNP
2g.47377034C>ACA346723984EPCAMc.512C>A (p.Thr171Lys)
c.596C>A (p.Thr199Lys)
n.361C>A
2g.47377034C>GCA346723985EPCAMc.512C>G (p.Thr171Arg)
c.596C>G (p.Thr199Arg)
n.361C>G
 dbSNP
2g.47377034C>TCA346723983EPCAMc.512C>T (p.Thr171Ile)
c.596C>T (p.Thr199Ile)
n.361C>T
 dbSNP gnomAD v4
2g.47377035A>CCA425947363EPCAMc.513A>C (p.Thr171=)
c.597A>C (p.Thr199=)
n.362A>C
2g.47377035A>GCA425947365EPCAMc.513A>G (p.Thr171=)
c.597A>G (p.Thr199=)
n.362A>G
 gnomAD v4

Number of alleles fetched