Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54624900A=CA1785187661RP1c.1018A= (p.Arg340=)
c.787+2612A= (n.787+2612A=)
c.1039A= (p.Arg347=)
8g.54624900A>CCA4751307RP1c.1018A>C (p.Arg340=)
c.787+2612A>C (n.787+2612A>C)
c.1039A>C (p.Arg347=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54624900A>GCA177236597RP1c.1018A>G (p.Arg340Gly)
c.787+2612A>G (n.787+2612A>G)
c.1039A>G (p.Arg347Gly)
 ClinVar dbSNP gnomAD v4
8g.54624900A>TCA370989103RP1c.1018A>T (p.Arg340Ter)
c.787+2612A>T (n.787+2612A>T)
c.1039A>T (p.Arg347Ter)
8g.54624901G>ACA370989104RP1c.1019G>A (p.Arg340Lys)
c.787+2613G>A (n.787+2613G>A)
c.1040G>A (p.Arg347Lys)
8g.54624901G>CCA370989105RP1c.1019G>C (p.Arg340Thr)
c.787+2613G>C (n.787+2613G>C)
c.1040G>C (p.Arg347Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54624901G=CA1785187662RP1c.1019G= (p.Arg340=)
c.787+2613G= (n.787+2613G=)
c.1040G= (p.Arg347=)
8g.54624901G>TCA370989106RP1c.1019G>T (p.Arg340Ile)
c.787+2613G>T (n.787+2613G>T)
c.1040G>T (p.Arg347Ile)
 COSMIC
8g.54624901dupCA582187727RP1c.1019dup (p.Ile341AsnfsTer15)
c.787+2613dup (n.787+2613dup)
c.1040dup (p.Ile348AsnfsTer15)
 gnomAD v2
8g.54624902A>CCA370989107RP1c.1020A>C (p.Arg340Ser)
c.787+2614A>C (n.787+2614A>C)
c.1041A>C (p.Arg347Ser)
8g.54624902A>GCA461098208RP1c.1020A>G (p.Arg340=)
c.787+2614A>G (n.787+2614A>G)
c.1041A>G (p.Arg347=)
8g.54624902A>TCA370989108RP1c.1020A>T (p.Arg340Ser)
c.787+2614A>T (n.787+2614A>T)
c.1041A>T (p.Arg347Ser)
8g.54624903A>CCA370989109RP1c.1021A>C (p.Ile341Leu)
c.787+2615A>C (n.787+2615A>C)
c.1042A>C (p.Ile348Leu)
8g.54624903A>GCA370989111RP1c.1021A>G (p.Ile341Val)
c.787+2615A>G (n.787+2615A>G)
c.1042A>G (p.Ile348Val)
8g.54624903A>TCA370989110RP1c.1021A>T (p.Ile341Leu)
c.787+2615A>T (n.787+2615A>T)
c.1042A>T (p.Ile348Leu)
8g.54624904T>ACA370989112RP1c.1022T>A (p.Ile341Lys)
c.787+2616T>A (n.787+2616T>A)
c.1043T>A (p.Ile348Lys)
8g.54624904T>CCA370989113RP1c.1022T>C (p.Ile341Thr)
c.787+2616T>C (n.787+2616T>C)
c.1043T>C (p.Ile348Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.54624904T>GCA370989114RP1c.1022T>G (p.Ile341Arg)
c.787+2616T>G (n.787+2616T>G)
c.1043T>G (p.Ile348Arg)
8g.54624904T=CA1785187663RP1c.1022T= (p.Ile341=)
c.787+2616T= (n.787+2616T=)
c.1043T= (p.Ile348=)
8g.54624905A>CCA461098214RP1c.1023A>C (p.Ile341=)
c.787+2617A>C (n.787+2617A>C)
c.1044A>C (p.Ile348=)
8g.54624905A>GCA370989115RP1c.1023A>G (p.Ile341Met)
c.787+2617A>G (n.787+2617A>G)
c.1044A>G (p.Ile348Met)
8g.54624905A>TCA461098215RP1c.1023A>T (p.Ile341=)
c.787+2617A>T (n.787+2617A>T)
c.1044A>T (p.Ile348=)
 COSMIC
8g.54624906A>CCA370989116RP1c.1024A>C (p.Lys342Gln)
c.787+2618A>C (n.787+2618A>C)
c.1045A>C (p.Lys349Gln)
8g.54624906A>GCA370989118RP1c.1024A>G (p.Lys342Glu)
c.787+2618A>G (n.787+2618A>G)
c.1045A>G (p.Lys349Glu)
8g.54624906A>TCA370989117RP1c.1024A>T (p.Lys342Ter)
c.787+2618A>T (n.787+2618A>T)
c.1045A>T (p.Lys349Ter)
8g.54624907A>CCA370989119RP1c.1025A>C (p.Lys342Thr)
c.787+2619A>C (n.787+2619A>C)
c.1046A>C (p.Lys349Thr)
8g.54624907A>GCA370989120RP1c.1025A>G (p.Lys342Arg)
c.787+2619A>G (n.787+2619A>G)
c.1046A>G (p.Lys349Arg)
8g.54624907A>TCA370989121RP1c.1025A>T (p.Lys342Ile)
c.787+2619A>T (n.787+2619A>T)
c.1046A>T (p.Lys349Ile)
8g.54624908A>CCA370989122RP1c.1026A>C (p.Lys342Asn)
c.787+2620A>C (n.787+2620A>C)
c.1047A>C (p.Lys349Asn)
8g.54624908A>GCA461098219RP1c.1026A>G (p.Lys342=)
c.787+2620A>G (n.787+2620A>G)
c.1047A>G (p.Lys349=)
8g.54624908A>TCA370989123RP1c.1026A>T (p.Lys342Asn)
c.787+2620A>T (n.787+2620A>T)
c.1047A>T (p.Lys349Asn)
8g.54624909G>ACA370989124RP1c.1027G>A (p.Glu343Lys)
c.787+2621G>A (n.787+2621G>A)
c.1048G>A (p.Glu350Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.54624909G>CCA370989125RP1c.1027G>C (p.Glu343Gln)
c.787+2621G>C (n.787+2621G>C)
c.1048G>C (p.Glu350Gln)
8g.54624909G=CA1785187664RP1c.1027G= (p.Glu343=)
c.787+2621G= (n.787+2621G=)
c.1048G= (p.Glu350=)
8g.54624909G>TCA370989126RP1c.1027G>T (p.Glu343Ter)
c.787+2621G>T (n.787+2621G>T)
c.1048G>T (p.Glu350Ter)
8g.54624910A>CCA370989127RP1c.1028A>C (p.Glu343Ala)
c.787+2622A>C (n.787+2622A>C)
c.1049A>C (p.Glu350Ala)
8g.54624910A>GCA370989128RP1c.1028A>G (p.Glu343Gly)
c.787+2622A>G (n.787+2622A>G)
c.1049A>G (p.Glu350Gly)
8g.54624910A>TCA370989129RP1c.1028A>T (p.Glu343Val)
c.787+2622A>T (n.787+2622A>T)
c.1049A>T (p.Glu350Val)
8g.54624911G>ACA4751308RP1c.1029G>A (p.Glu343=)
c.787+2623G>A (n.787+2623G>A)
c.1050G>A (p.Glu350=)
 dbSNP ExAC gnomAD v2
8g.54624911G>CCA370989131RP1c.1029G>C (p.Glu343Asp)
c.787+2623G>C (n.787+2623G>C)
c.1050G>C (p.Glu350Asp)
8g.54624911G=CA1785187665RP1c.1029G= (p.Glu343=)
c.787+2623G= (n.787+2623G=)
c.1050G= (p.Glu350=)
8g.54624911G>TCA370989130RP1c.1029G>T (p.Glu343Asp)
c.787+2623G>T (n.787+2623G>T)
c.1050G>T (p.Glu350Asp)
8g.54624912G>ACA370989132RP1c.1030G>A (p.Glu344Lys)
c.787+2624G>A (n.787+2624G>A)
c.1051G>A (p.Glu351Lys)
 COSMIC
8g.54624912G>CCA370989134RP1c.1030G>C (p.Glu344Gln)
c.787+2624G>C (n.787+2624G>C)
c.1051G>C (p.Glu351Gln)
8g.54624912G>TCA370989133RP1c.1030G>T (p.Glu344Ter)
c.787+2624G>T (n.787+2624G>T)
c.1051G>T (p.Glu351Ter)
8g.54624913A=CA1785187666RP1c.1031A= (p.Glu344=)
c.787+2625A= (n.787+2625A=)
c.1052A= (p.Glu351=)
8g.54624913A>CCA370989135RP1c.1031A>C (p.Glu344Ala)
c.787+2625A>C (n.787+2625A>C)
c.1052A>C (p.Glu351Ala)
8g.54624913A>GCA370989137RP1c.1031A>G (p.Glu344Gly)
c.787+2625A>G (n.787+2625A>G)
c.1052A>G (p.Glu351Gly)
8g.54624913A>TCA370989136RP1c.1031A>T (p.Glu344Val)
c.787+2625A>T (n.787+2625A>T)
c.1052A>T (p.Glu351Val)
 dbSNP gnomAD v2
8g.54624914A=CA1785187667RP1c.1032A= (p.Glu344=)
c.787+2626A= (n.787+2626A=)
c.1053A= (p.Glu351=)

Number of alleles fetched