Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169552649C>A | CA343128594 | F5 | c.1204G>T (p.Glu402Ter) c.793G>T (p.Glu265Ter) | |
1 | g.169552649C= | CA1206146862 | F5 | c.1204G= (p.Glu402=) c.793G= (p.Glu265=) | |
1 | g.169552649C>G | CA343128596 | F5 | c.1204G>C (p.Glu402Gln) c.793G>C (p.Glu265Gln) | |
1 | g.169552649C>T | CA343128595 | F5 | c.1204G>A (p.Glu402Lys) c.793G>A (p.Glu265Lys) | dbSNP |
1 | g.169552650A>C | CA343128598 | F5 | c.1203T>G (p.Asp401Glu) c.792T>G (p.Asp264Glu) | gnomAD v4 |
1 | g.169552650A>G | CA421732545 | F5 | c.1203T>C (p.Asp401=) c.792T>C (p.Asp264=) | |
1 | g.169552650A>T | CA343128602 | F5 | c.1203T>A (p.Asp401Glu) c.792T>A (p.Asp264Glu) | |
1 | g.169552651T>A | CA343128605 | F5 | c.1202A>T (p.Asp401Val) c.791A>T (p.Asp264Val) | |
1 | g.169552651T>C | CA343128607 | F5 | c.1202A>G (p.Asp401Gly) c.791A>G (p.Asp264Gly) | gnomAD v4 |
1 | g.169552651T>G | CA343128608 | F5 | c.1202A>C (p.Asp401Ala) c.791A>C (p.Asp264Ala) | |
1 | g.169552652C>A | CA343128610 | F5 | c.1201G>T (p.Asp401Tyr) c.790G>T (p.Asp264Tyr) | |
1 | g.169552652C>G | CA343128613 | F5 | c.1201G>C (p.Asp401His) c.790G>C (p.Asp264His) | gnomAD v4 |
1 | g.169552652C>T | CA343128615 | F5 | c.1201G>A (p.Asp401Asn) c.790G>A (p.Asp264Asn) | |
1 | g.169552653T>A | CA343128620 | F5 | c.1200A>T (p.Glu400Asp) c.789A>T (p.Glu263Asp) | |
1 | g.169552653T>C | CA421732546 | F5 | c.1200A>G (p.Glu400=) c.789A>G (p.Glu263=) | |
1 | g.169552653T>G | CA343128619 | F5 | c.1200A>C (p.Glu400Asp) c.789A>C (p.Glu263Asp) | |
1 | g.169552654T>A | CA1234391 | F5 | c.1199A>T (p.Glu400Val) c.788A>T (p.Glu263Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552654T>C | CA343128628 | F5 | c.1199A>G (p.Glu400Gly) c.788A>G (p.Glu263Gly) | |
1 | g.169552654T>G | CA343128630 | F5 | c.1199A>C (p.Glu400Ala) c.788A>C (p.Glu263Ala) | |
1 | g.169552654T= | CA1206146864 | F5 | c.1199A= (p.Glu400=) c.788A= (p.Glu263=) | |
1 | g.169552655C>A | CA343128634 | F5 | c.1198G>T (p.Glu400Ter) c.787G>T (p.Glu263Ter) | |
1 | g.169552655C= | CA1206146874 | F5 | c.1198G= (p.Glu400=) c.787G= (p.Glu263=) | |
1 | g.169552655C>G | CA343128636 | F5 | c.1198G>C (p.Glu400Gln) c.787G>C (p.Glu263Gln) | |
1 | g.169552655C>T | CA1234393 | F5 | c.1198G>A (p.Glu400Lys) c.787G>A (p.Glu263Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.169552655_169552664delinsCGTACTGTGT | CA1206146871 | F5 | c.1189_1198delinsACACAGTACG (p.Thr397=) c.778_787delinsACACAGTACG (p.Thr260=) | |
1 | g.169552656G>A | CA421732547 | F5 | c.1197C>T (p.Tyr399=) c.786C>T (p.Tyr262=) | ClinVar dbSNP gnomAD v4 |
1 | g.169552656G>C | CA343128643 | F5 | c.1197C>G (p.Tyr399Ter) c.786C>G (p.Tyr262Ter) | |
1 | g.169552656G= | CA1206146884 | F5 | c.1197C= (p.Tyr399=) c.786C= (p.Tyr262=) | |
1 | g.169552656G>T | CA343128656 | F5 | c.1197C>A (p.Tyr399Ter) c.786C>A (p.Tyr262Ter) | |
1 | g.169552660_169552668del | CA1234392 | F5 | c.1189_1197del (p.Thr397_Tyr399del) c.778_786del (p.Thr260_Tyr262del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552657T>A | CA343128661 | F5 | c.1196A>T (p.Tyr399Phe) c.785A>T (p.Tyr262Phe) | |
1 | g.169552657T>C | CA343128663 | F5 | c.1196A>G (p.Tyr399Cys) c.785A>G (p.Tyr262Cys) | |
1 | g.169552657T>G | CA343128666 | F5 | c.1196A>C (p.Tyr399Ser) c.785A>C (p.Tyr262Ser) | |
1 | g.169552658A= | CA1206146892 | F5 | c.1195T= (p.Tyr399=) c.784T= (p.Tyr262=) | |
1 | g.169552658A>C | CA343128668 | F5 | c.1195T>G (p.Tyr399Asp) c.784T>G (p.Tyr262Asp) | |
1 | g.169552658A>G | CA1234394 | F5 | c.1195T>C (p.Tyr399His) c.784T>C (p.Tyr262His) | dbSNP ExAC gnomAD v2 |
1 | g.169552658A>T | CA343128673 | F5 | c.1195T>A (p.Tyr399Asn) c.784T>A (p.Tyr262Asn) | dbSNP |
1 | g.169552659C>A | CA343128674 | F5 | c.1194G>T (p.Gln398His) c.783G>T (p.Gln261His) | |
1 | g.169552659C= | CA1206146895 | F5 | c.1194G= (p.Gln398=) c.783G= (p.Gln261=) | |
1 | g.169552659C>G | CA343128677 | F5 | c.1194G>C (p.Gln398His) c.783G>C (p.Gln261His) | |
1 | g.169552659C>T | CA421732548 | F5 | c.1194G>A (p.Gln398=) c.783G>A (p.Gln261=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552660T>A | CA343128681 | F5 | c.1193A>T (p.Gln398Leu) c.782A>T (p.Gln261Leu) | |
1 | g.169552660T>C | CA343128682 | F5 | c.1193A>G (p.Gln398Arg) c.782A>G (p.Gln261Arg) | |
1 | g.169552660T>G | CA343128683 | F5 | c.1193A>C (p.Gln398Pro) c.782A>C (p.Gln261Pro) | gnomAD v4 |
1 | g.169552661G>A | CA343128684 | F5 | c.1192C>T (p.Gln398Ter) c.781C>T (p.Gln261Ter) | gnomAD v4 |
1 | g.169552661G>C | CA343128688 | F5 | c.1192C>G (p.Gln398Glu) c.781C>G (p.Gln261Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552661G= | CA1206146897 | F5 | c.1192C= (p.Gln398=) c.781C= (p.Gln261=) | |
1 | g.169552661G>T | CA343128686 | F5 | c.1192C>A (p.Gln398Lys) c.781C>A (p.Gln261Lys) | |
1 | g.169552662T>A | CA421732549 | F5 | c.1191A>T (p.Thr397=) c.780A>T (p.Thr260=) | |
1 | g.169552662T>C | CA421732550 | F5 | c.1191A>G (p.Thr397=) c.780A>G (p.Thr260=) | gnomAD v4 |
1 | g.169552662T>G | CA421732551 | F5 | c.1191A>C (p.Thr397=) c.780A>C (p.Thr260=) | gnomAD v4 |
1 | g.169552663G>A | CA343128696 | F5 | c.1190C>T (p.Thr397Ile) c.779C>T (p.Thr260Ile) | |
1 | g.169552663G>C | CA343128698 | F5 | c.1190C>G (p.Thr397Arg) c.779C>G (p.Thr260Arg) | |
1 | g.169552663G>T | CA343128700 | F5 | c.1190C>A (p.Thr397Lys) c.779C>A (p.Thr260Lys) | |
1 | g.169552664T>A | CA343128704 | F5 | c.1189A>T (p.Thr397Ser) c.778A>T (p.Thr260Ser) | |
1 | g.169552664T>C | CA1234395 | F5 | c.1189A>G (p.Thr397Ala) c.778A>G (p.Thr260Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552664T>G | CA343128717 | F5 | c.1189A>C (p.Thr397Pro) c.778A>C (p.Thr260Pro) | |
1 | g.169552664T= | CA1206146899 | F5 | c.1189A= (p.Thr397=) c.778A= (p.Thr260=) | |
1 | g.169552665G>A | CA421732552 | F5 | c.1188C>T (p.Tyr396=) c.777C>T (p.Tyr259=) | |
1 | g.169552665G>C | CA343128720 | F5 | c.1188C>G (p.Tyr396Ter) c.777C>G (p.Tyr259Ter) | |
1 | g.169552665G>T | CA343128721 | F5 | c.1188C>A (p.Tyr396Ter) c.777C>A (p.Tyr259Ter) | |
1 | g.169552666T>A | CA343128724 | F5 | c.1187A>T (p.Tyr396Phe) c.776A>T (p.Tyr259Phe) | |
1 | g.169552666T>C | CA343128727 | F5 | c.1187A>G (p.Tyr396Cys) c.776A>G (p.Tyr259Cys) | COSMIC |
1 | g.169552666T>G | CA343128729 | F5 | c.1187A>C (p.Tyr396Ser) c.776A>C (p.Tyr259Ser) | |
1 | g.169552667A>C | CA343128737 | F5 | c.1186T>G (p.Tyr396Asp) c.775T>G (p.Tyr259Asp) | |
1 | g.169552667A>G | CA343128733 | F5 | c.1186T>C (p.Tyr396His) c.775T>C (p.Tyr259His) | |
1 | g.169552667A>T | CA343128732 | F5 | c.1186T>A (p.Tyr396Asn) c.775T>A (p.Tyr259Asn) | |
1 | g.169552668C>A | CA343128740 | F5 | c.1185G>T (p.Met395Ile) c.774G>T (p.Met258Ile) | |
1 | g.169552668C>G | CA343128742 | F5 | c.1185G>C (p.Met395Ile) c.774G>C (p.Met258Ile) | |
1 | g.169552668C>T | CA343128743 | F5 | c.1185G>A (p.Met395Ile) c.774G>A (p.Met258Ile) | |
1 | g.169552669A>C | CA343128748 | F5 | c.1184T>G (p.Met395Arg) c.773T>G (p.Met258Arg) | |
1 | g.169552669A>G | CA343128751 | F5 | c.1184T>C (p.Met395Thr) c.773T>C (p.Met258Thr) | |
1 | g.169552669A>T | CA343128753 | F5 | c.1184T>A (p.Met395Lys) c.773T>A (p.Met258Lys) | |
1 | g.169552670T>A | CA343128756 | F5 | c.1183A>T (p.Met395Leu) c.772A>T (p.Met258Leu) | |
1 | g.169552670T>C | CA343128764 | F5 | c.1183A>G (p.Met395Val) c.772A>G (p.Met258Val) | |
1 | g.169552670T>G | CA343128766 | F5 | c.1183A>C (p.Met395Leu) c.772A>C (p.Met258Leu) | |
1 | g.169552671A>C | CA421732553 | F5 | c.1182T>G (p.Val394=) c.771T>G (p.Val257=) | |
1 | g.169552671A>G | CA421732554 | F5 | c.1182T>C (p.Val394=) c.771T>C (p.Val257=) | gnomAD v4 |
1 | g.169552671A>T | CA421732555 | F5 | c.1182T>A (p.Val394=) c.771T>A (p.Val257=) | |
1 | g.169552672A= | CA1141894938 | F5 | c.1181T= (p.Val394=) c.770T= (p.Val257=) | |
1 | g.169552672A>C | CA343128770 | F5 | c.1181T>G (p.Val394Gly) c.770T>G (p.Val257Gly) | |
1 | g.169552672A>G | CA1234396 | F5 | c.1181T>C (p.Val394Ala) c.770T>C (p.Val257Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552672A>T | CA343128777 | F5 | c.1181T>A (p.Val394Asp) c.770T>A (p.Val257Asp) | |
1 | g.169552673C>A | CA343128790 | F5 | c.1180G>T (p.Val394Phe) c.769G>T (p.Val257Phe) | |
1 | g.169552673C>G | CA343128792 | F5 | c.1180G>C (p.Val394Leu) c.769G>C (p.Val257Leu) | |
1 | g.169552673C>T | CA343128782 | F5 | c.1180G>A (p.Val394Ile) c.769G>A (p.Val257Ile) | |
1 | g.169552674T>A | CA343128795 | F5 | c.1179A>T (p.Lys393Asn) c.768A>T (p.Lys256Asn) | |
1 | g.169552674T>C | CA421732556 | F5 | c.1179A>G (p.Lys393=) c.768A>G (p.Lys256=) | |
1 | g.169552674T>G | CA343128800 | F5 | c.1179A>C (p.Lys393Asn) c.768A>C (p.Lys256Asn) | |
1 | g.169552675T>A | CA343128803 | F5 | c.1178A>T (p.Lys393Ile) c.767A>T (p.Lys256Ile) | |
1 | g.169552675T>C | CA343128819 | F5 | c.1178A>G (p.Lys393Arg) c.767A>G (p.Lys256Arg) | |
1 | g.169552675T>G | CA343128824 | F5 | c.1178A>C (p.Lys393Thr) c.767A>C (p.Lys256Thr) | |
1 | g.169552676T>A | CA343128837 | F5 | c.1177A>T (p.Lys393Ter) c.766A>T (p.Lys256Ter) | |
1 | g.169552676T>C | CA343128831 | F5 | c.1177A>G (p.Lys393Glu) c.766A>G (p.Lys256Glu) | |
1 | g.169552676T>G | CA343128835 | F5 | c.1177A>C (p.Lys393Gln) c.766A>C (p.Lys256Gln) | |
1 | g.169552677C>A | CA343128841 | F5 | c.1176G>T (p.Lys392Asn) c.765G>T (p.Lys255Asn) | |
1 | g.169552677C>G | CA343128845 | F5 | c.1176G>C (p.Lys392Asn) c.765G>C (p.Lys255Asn) | COSMIC |
1 | g.169552677C>T | CA421732557 | F5 | c.1176G>A (p.Lys392=) c.765G>A (p.Lys255=) | |
1 | g.169552678T>A | CA343128848 | F5 | c.1175A>T (p.Lys392Met) c.764A>T (p.Lys255Met) | |
1 | g.169552678T>C | CA1234397 | F5 | c.1175A>G (p.Lys392Arg) c.764A>G (p.Lys255Arg) | dbSNP ExAC gnomAD v2 |
1 | g.169552678T>G | CA343128851 | F5 | c.1175A>C (p.Lys392Thr) c.764A>C (p.Lys255Thr) | |
1 | g.169552678T= | CA1143643189 | F5 | c.1175A= (p.Lys392=) c.764A= (p.Lys255=) | |
1 | g.169552679T>A | CA343128856 | F5 | c.1174A>T (p.Lys392Ter) c.763A>T (p.Lys255Ter) | |
1 | g.169552679T>C | CA343128852 | F5 | c.1174A>G (p.Lys392Glu) c.763A>G (p.Lys255Glu) | |
1 | g.169552679T>G | CA343128854 | F5 | c.1174A>C (p.Lys392Gln) c.763A>C (p.Lys255Gln) | |
1 | g.169552680A>C | CA343128859 | F5 | c.1173T>G (p.Tyr391Ter) c.762T>G (p.Tyr254Ter) | |
1 | g.169552680A>G | CA421732558 | F5 | c.1173T>C (p.Tyr391=) c.762T>C (p.Tyr254=) | |
1 | g.169552680A>T | CA343128862 | F5 | c.1173T>A (p.Tyr391Ter) c.762T>A (p.Tyr254Ter) | |
1 | g.169552681T>A | CA343128863 | F5 | c.1172A>T (p.Tyr391Phe) c.761A>T (p.Tyr254Phe) | |
1 | g.169552681T>C | CA1234398 | F5 | c.1172A>G (p.Tyr391Cys) c.761A>G (p.Tyr254Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552681T>G | CA343128864 | F5 | c.1172A>C (p.Tyr391Ser) c.761A>C (p.Tyr254Ser) | |
1 | g.169552681T= | CA1206146906 | F5 | c.1172A= (p.Tyr391=) c.761A= (p.Tyr254=) | |
1 | g.169552682A>C | CA343128865 | F5 | c.1171T>G (p.Tyr391Asp) c.760T>G (p.Tyr254Asp) | |
1 | g.169552682A>G | CA343128866 | F5 | c.1171T>C (p.Tyr391His) c.760T>C (p.Tyr254His) | |
1 | g.169552682A>T | CA343128867 | F5 | c.1171T>A (p.Tyr391Asn) c.760T>A (p.Tyr254Asn) | |
1 | g.169552683A= | CA1206146908 | F5 | c.1170T= (p.His390=) c.759T= (p.His253=) | |
1 | g.169552683A>C | CA343128873 | F5 | c.1170T>G (p.His390Gln) c.759T>G (p.His253Gln) | |
1 | g.169552683A>G | CA421732561 | F5 | c.1170T>C (p.His390=) c.759T>C (p.His253=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552683A>T | CA343128875 | F5 | c.1170T>A (p.His390Gln) c.759T>A (p.His253Gln) | |
1 | g.169552684T>A | CA343128879 | F5 | c.1169A>T (p.His390Leu) c.758A>T (p.His253Leu) | |
1 | g.169552684T>C | CA343128882 | F5 | c.1169A>G (p.His390Arg) c.758A>G (p.His253Arg) | gnomAD v4 |
1 | g.169552684T>G | CA343128885 | F5 | c.1169A>C (p.His390Pro) c.758A>C (p.His253Pro) | |
1 | g.169552685G>A | CA343128890 | F5 | c.1168C>T (p.His390Tyr) c.757C>T (p.His253Tyr) | |
1 | g.169552685G>C | CA343128894 | F5 | c.1168C>G (p.His390Asp) c.757C>G (p.His253Asp) | gnomAD v4 |
1 | g.169552685G>T | CA343128892 | F5 | c.1168C>A (p.His390Asn) c.757C>A (p.His253Asn) | COSMIC |
1 | g.169552686T>A | CA343128896 | F5 | c.1167A>T (p.Lys389Asn) c.756A>T (p.Lys252Asn) | |
1 | g.169552686T>C | CA421732564 | F5 | c.1167A>G (p.Lys389=) c.756A>G (p.Lys252=) | |
1 | g.169552686T>G | CA343128898 | F5 | c.1167A>C (p.Lys389Asn) c.756A>C (p.Lys252Asn) | |
1 | g.169552687T>A | CA343128911 | F5 | c.1166A>T (p.Lys389Ile) c.755A>T (p.Lys252Ile) | |
1 | g.169552687T>C | CA343128913 | F5 | c.1166A>G (p.Lys389Arg) c.755A>G (p.Lys252Arg) | |
1 | g.169552687T>G | CA343128918 | F5 | c.1166A>C (p.Lys389Thr) c.755A>C (p.Lys252Thr) | |
1 | g.169552688T>A | CA343128923 | F5 | c.1165A>T (p.Lys389Ter) c.754A>T (p.Lys252Ter) | |
1 | g.169552688T>C | CA343128929 | F5 | c.1165A>G (p.Lys389Glu) c.754A>G (p.Lys252Glu) | |
1 | g.169552688T>G | CA343128932 | F5 | c.1165A>C (p.Lys389Gln) c.754A>C (p.Lys252Gln) | |
1 | g.169552689T>A | CA421732565 | F5 | c.1164A>T (p.Gly388=) c.753A>T (p.Gly251=) | |
1 | g.169552689T>C | CA421732566 | F5 | c.1164A>G (p.Gly388=) c.753A>G (p.Gly251=) | |
1 | g.169552689T>G | CA32388720 | F5 | c.1164A>C (p.Gly388=) c.753A>C (p.Gly251=) | dbSNP gnomAD v4 |
1 | g.169552689T= | CA1206146913 | F5 | c.1164A= (p.Gly388=) c.753A= (p.Gly251=) | |
1 | g.169552689_169552690delinsTC | CA1206146911 | F5 | c.1163_1164delinsGA (p.Gly388=) c.752_753delinsGA (p.Gly251=) | |
1 | g.169552690C>A | CA343128937 | F5 | c.1163G>T (p.Gly388Val) c.752G>T (p.Gly251Val) | |
1 | g.169552690C>G | CA343128939 | F5 | c.1163G>C (p.Gly388Ala) c.752G>C (p.Gly251Ala) | |
1 | g.169552690C>T | CA343128943 | F5 | c.1163G>A (p.Gly388Glu) c.752G>A (p.Gly251Glu) | |
1 | g.169552691del | CA1234399 | F5 | c.1163del (p.Gly388GlufsTer22) c.752del (p.Gly251GlufsTer22) | dbSNP ExAC gnomAD v2 |
1 | g.169552691C>A | CA343128975 | F5 | c.1162G>T (p.Gly388Ter) c.751G>T (p.Gly251Ter) | |
1 | g.169552691C>G | CA343128961 | F5 | c.1162G>C (p.Gly388Arg) c.751G>C (p.Gly251Arg) | |
1 | g.169552691C>T | CA343128971 | F5 | c.1162G>A (p.Gly388Arg) c.751G>A (p.Gly251Arg) | |
1 | g.169552692A= | CA1148239639 | F5 | c.1161T= (p.Ile387=) c.750T= (p.Ile250=) | |
1 | g.169552692A>C | CA343128982 | F5 | c.1161T>G (p.Ile387Met) c.750T>G (p.Ile250Met) | |
1 | g.169552692A>G | CA421732567 | F5 | c.1161T>C (p.Ile387=) c.750T>C (p.Ile250=) | |
1 | g.169552692A>T | CA1234400 | F5 | c.1161T>A (p.Ile387=) c.750T>A (p.Ile250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552693A= | CA1141580512 | F5 | c.1160T= (p.Ile387=) c.749T= (p.Ile250=) | |
1 | g.169552693A>C | CA343128987 | F5 | c.1160T>G (p.Ile387Ser) c.749T>G (p.Ile250Ser) | |
1 | g.169552693A>G | CA251561 | F5 | c.1160T>C (p.Ile387Thr) c.749T>C (p.Ile250Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.169552693A>T | CA343128989 | F5 | c.1160T>A (p.Ile387Asn) c.749T>A (p.Ile250Asn) | |
1 | g.169552694T>A | CA343128991 | F5 | c.1159A>T (p.Ile387Phe) c.748A>T (p.Ile250Phe) | |
1 | g.169552694T>C | CA343128995 | F5 | c.1159A>G (p.Ile387Val) c.748A>G (p.Ile250Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552694T>G | CA343128998 | F5 | c.1159A>C (p.Ile387Leu) c.748A>C (p.Ile250Leu) | |
1 | g.169552694T= | CA1206146927 | F5 | c.1159A= (p.Ile387=) c.748A= (p.Ile250=) | |
1 | g.169552695T>A | CA343129002 | F5 | c.1158A>T (p.Gln386His) c.747A>T (p.Gln249His) | |
1 | g.169552695T>C | CA1234401 | F5 | c.1158A>G (p.Gln386=) c.747A>G (p.Gln249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552695T>G | CA343129021 | F5 | c.1158A>C (p.Gln386His) c.747A>C (p.Gln249His) | gnomAD v4 |
1 | g.169552695T= | CA1142252155 | F5 | c.1158A= (p.Gln386=) c.747A= (p.Gln249=) | |
1 | g.169552696T>A | CA343129028 | F5 | c.1157A>T (p.Gln386Leu) c.746A>T (p.Gln249Leu) | |
1 | g.169552696T>C | CA343129027 | F5 | c.1157A>G (p.Gln386Arg) c.746A>G (p.Gln249Arg) | |
1 | g.169552696T>G | CA343129026 | F5 | c.1157A>C (p.Gln386Pro) c.746A>C (p.Gln249Pro) | |
1 | g.169552697G>A | CA343129030 | F5 | c.1156C>T (p.Gln386Ter) c.745C>T (p.Gln249Ter) | |
1 | g.169552697G>C | CA343129036 | F5 | c.1156C>G (p.Gln386Glu) c.745C>G (p.Gln249Glu) | |
1 | g.169552697G>T | CA343129031 | F5 | c.1156C>A (p.Gln386Lys) c.745C>A (p.Gln249Lys) | gnomAD v4 |
1 | g.169552698G>A | CA421732568 | F5 | c.1155C>T (p.Asn385=) c.744C>T (p.Asn248=) | |
1 | g.169552698G>C | CA343129043 | F5 | c.1155C>G (p.Asn385Lys) c.744C>G (p.Asn248Lys) | gnomAD v4 |
1 | g.169552698G>T | CA343129046 | F5 | c.1155C>A (p.Asn385Lys) c.744C>A (p.Asn248Lys) | |
1 | g.169552699T>A | CA343129049 | F5 | c.1154A>T (p.Asn385Ile) c.743A>T (p.Asn248Ile) | |
1 | g.169552699T>C | CA1234402 | F5 | c.1154A>G (p.Asn385Ser) c.743A>G (p.Asn248Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552699T>G | CA343129059 | F5 | c.1154A>C (p.Asn385Thr) c.743A>C (p.Asn248Thr) | |
1 | g.169552699T= | CA1143818117 | F5 | c.1154A= (p.Asn385=) c.743A= (p.Asn248=) | |
1 | g.169552700T>A | CA343129067 | F5 | c.1153A>T (p.Asn385Tyr) c.742A>T (p.Asn248Tyr) | |
1 | g.169552700T>C | CA343129078 | F5 | c.1153A>G (p.Asn385Asp) c.742A>G (p.Asn248Asp) | gnomAD v4 |
1 | g.169552700T>G | CA343129082 | F5 | c.1153A>C (p.Asn385His) c.742A>C (p.Asn248His) | |
1 | g.169552701T>A | CA421732569 | F5 | c.1152A>T (p.Ser384=) c.741A>T (p.Ser247=) | |
1 | g.169552701T>C | CA421732570 | F5 | c.1152A>G (p.Ser384=) c.741A>G (p.Ser247=) | |
1 | g.169552701T>G | CA421732571 | F5 | c.1152A>C (p.Ser384=) c.741A>C (p.Ser247=) | gnomAD v4 |
1 | g.169552702G>A | CA343129088 | F5 | c.1151C>T (p.Ser384Leu) c.740C>T (p.Ser247Leu) | gnomAD v4 |
1 | g.169552702G>C | CA343129098 | F5 | c.1151C>G (p.Ser384Ter) c.740C>G (p.Ser247Ter) | dbSNP gnomAD v4 |
1 | g.169552702G= | CA1206146939 | F5 | c.1151C= (p.Ser384=) c.740C= (p.Ser247=) | |
1 | g.169552702G>T | CA343129100 | F5 | c.1151C>A (p.Ser384Ter) c.740C>A (p.Ser247Ter) | |
1 | g.169552703A>C | CA343129108 | F5 | c.1150T>G (p.Ser384Ala) c.739T>G (p.Ser247Ala) | |
1 | g.169552703A>G | CA343129111 | F5 | c.1150T>C (p.Ser384Pro) c.739T>C (p.Ser247Pro) | gnomAD v4 |
1 | g.169552703A>T | CA343129114 | F5 | c.1150T>A (p.Ser384Thr) c.739T>A (p.Ser247Thr) | |
1 | g.169552704G>A | CA421732572 | F5 | c.1149C>T (p.Phe383=) c.738C>T (p.Phe246=) | dbSNP gnomAD v4 |
1 | g.169552704G>C | CA343129120 | F5 | c.1149C>G (p.Phe383Leu) c.738C>G (p.Phe246Leu) | |
1 | g.169552704G= | CA1206146943 | F5 | c.1149C= (p.Phe383=) c.738C= (p.Phe246=) | |
1 | g.169552704G>T | CA343129117 | F5 | c.1149C>A (p.Phe383Leu) c.738C>A (p.Phe246Leu) | |
1 | g.169552705A= | CA1206146945 | F5 | c.1148T= (p.Phe383=) c.737T= (p.Phe246=) | |
1 | g.169552705A>C | CA343129125 | F5 | c.1148T>G (p.Phe383Cys) c.737T>G (p.Phe246Cys) | |
1 | g.169552705A>G | CA343129126 | F5 | c.1148T>C (p.Phe383Ser) c.737T>C (p.Phe246Ser) | dbSNP |
1 | g.169552705A>T | CA343129127 | F5 | c.1148T>A (p.Phe383Tyr) c.737T>A (p.Phe246Tyr) | |
1 | g.169552706A= | CA1206146947 | F5 | c.1147T= (p.Phe383=) c.736T= (p.Phe246=) | |
1 | g.169552706A>C | CA343129128 | F5 | c.1147T>G (p.Phe383Val) c.736T>G (p.Phe246Val) | |
1 | g.169552706A>G | CA32388728 | F5 | c.1147T>C (p.Phe383Leu) c.736T>C (p.Phe246Leu) | dbSNP |
1 | g.169552706A>T | CA343129134 | F5 | c.1147T>A (p.Phe383Ile) c.736T>A (p.Phe246Ile) | |
1 | g.169552707A>C | CA343129139 | F5 | c.1146T>G (p.Asn382Lys) c.735T>G (p.Asn245Lys) | |
1 | g.169552707A>G | CA421732573 | F5 | c.1146T>C (p.Asn382=) c.735T>C (p.Asn245=) | gnomAD v4 |
1 | g.169552707A>T | CA343129142 | F5 | c.1146T>A (p.Asn382Lys) c.735T>A (p.Asn245Lys) | |
1 | g.169552708T>A | CA343129146 | F5 | c.1145A>T (p.Asn382Ile) c.734A>T (p.Asn245Ile) | |
1 | g.169552708T>C | CA343129150 | F5 | c.1145A>G (p.Asn382Ser) c.734A>G (p.Asn245Ser) | |
1 | g.169552708T>G | CA343129152 | F5 | c.1145A>C (p.Asn382Thr) c.734A>C (p.Asn245Thr) | |
1 | g.169552709T>A | CA343129168 | F5 | c.1144A>T (p.Asn382Tyr) c.733A>T (p.Asn245Tyr) | |
1 | g.169552709T>C | CA343129162 | F5 | c.1144A>G (p.Asn382Asp) c.733A>G (p.Asn245Asp) | |
1 | g.169552709T>G | CA343129157 | F5 | c.1144A>C (p.Asn382His) c.733A>C (p.Asn245His) | |
1 | g.169552710A= | CA1148348567 | F5 | c.1143T= (p.Asp381=) c.732T= (p.Asp244=) | |
1 | g.169552710A>C | CA343129175 | F5 | c.1143T>G (p.Asp381Glu) c.732T>G (p.Asp244Glu) | |
1 | g.169552710A>G | CA421732574 | F5 | c.1143T>C (p.Asp381=) c.732T>C (p.Asp244=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552710A>T | CA1234403 | F5 | c.1143T>A (p.Asp381Glu) c.732T>A (p.Asp244Glu) | dbSNP ExAC gnomAD v2 |
1 | g.169552711T>A | CA343129184 | F5 | c.1142A>T (p.Asp381Val) c.731A>T (p.Asp244Val) | |
1 | g.169552711T>C | CA343129187 | F5 | c.1142A>G (p.Asp381Gly) c.731A>G (p.Asp244Gly) | |
1 | g.169552711T>G | CA343129189 | F5 | c.1142A>C (p.Asp381Ala) c.731A>C (p.Asp244Ala) | |
1 | g.169552712C>A | CA343129190 | F5 | c.1141G>T (p.Asp381Tyr) c.730G>T (p.Asp244Tyr) | |
1 | g.169552712C= | CA1206146953 | F5 | c.1141G= (p.Asp381=) c.730G= (p.Asp244=) | |
1 | g.169552712C>G | CA343129192 | F5 | c.1141G>C (p.Asp381His) c.730G>C (p.Asp244His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552712C>T | CA343129196 | F5 | c.1141G>A (p.Asp381Asn) c.730G>A (p.Asp244Asn) | dbSNP |
1 | g.169552713C>A | CA343129200 | F5 | c.1140G>T (p.Leu380Phe) c.729G>T (p.Leu243Phe) | |
1 | g.169552713C= | CA1206146957 | F5 | c.1140G= (p.Leu380=) c.729G= (p.Leu243=) | |
1 | g.169552713C>G | CA1234404 | F5 | c.1140G>C (p.Leu380Phe) c.729G>C (p.Leu243Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552713C>T | CA32388732 | F5 | c.1140G>A (p.Leu380=) c.729G>A (p.Leu243=) | dbSNP |
1 | g.169552714A>C | CA343129211 | F5 | c.1139T>G (p.Leu380Trp) c.728T>G (p.Leu243Trp) | gnomAD v4 |
1 | g.169552714A>G | CA343129205 | F5 | c.1139T>C (p.Leu380Ser) c.728T>C (p.Leu243Ser) | |
1 | g.169552714A>T | CA343129203 | F5 | c.1139T>A (p.Leu380Ter) c.728T>A (p.Leu243Ter) | |
1 | g.169552715A>C | CA343129214 | F5 | c.1138T>G (p.Leu380Val) c.727T>G (p.Leu243Val) | |
1 | g.169552715A>G | CA421732575 | F5 | c.1138T>C (p.Leu380=) c.727T>C (p.Leu243=) | gnomAD v4 |
1 | g.169552715A>T | CA343129217 | F5 | c.1138T>A (p.Leu380Met) c.727T>A (p.Leu243Met) | |
1 | g.169552716A= | CA1206146962 | F5 | c.1137T= (p.His379=) c.726T= (p.His242=) | |
1 | g.169552716A>C | CA343129225 | F5 | c.1137T>G (p.His379Gln) c.726T>G (p.His242Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552716A>G | CA1234405 | F5 | c.1137T>C (p.His379=) c.726T>C (p.His242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552716A>T | CA343129238 | F5 | c.1137T>A (p.His379Gln) c.726T>A (p.His242Gln) | |
1 | g.169552717T>A | CA343129243 | F5 | c.1136A>T (p.His379Leu) c.725A>T (p.His242Leu) | |
1 | g.169552717T>C | CA343129255 | F5 | c.1136A>G (p.His379Arg) c.725A>G (p.His242Arg) | |
1 | g.169552717T>G | CA343129262 | F5 | c.1136A>C (p.His379Pro) c.725A>C (p.His242Pro) | |
1 | g.169552718G>A | CA343129268 | F5 | c.1135C>T (p.His379Tyr) c.724C>T (p.His242Tyr) | |
1 | g.169552718G>C | CA343129282 | F5 | c.1135C>G (p.His379Asp) c.724C>G (p.His242Asp) | |
1 | g.169552718G>T | CA343129289 | F5 | c.1135C>A (p.His379Asn) c.724C>A (p.His242Asn) | |
1 | g.169552719C>A | CA343129293 | F5 | c.1134G>T (p.Gln378His) c.723G>T (p.Gln241His) | |
1 | g.169552719C>G | CA343129298 | F5 | c.1134G>C (p.Gln378His) c.723G>C (p.Gln241His) | |
1 | g.169552719C>T | CA421732576 | F5 | c.1134G>A (p.Gln378=) c.723G>A (p.Gln241=) | |
1 | g.169552720T>A | CA343129306 | F5 | c.1133A>T (p.Gln378Leu) c.722A>T (p.Gln241Leu) | |
1 | g.169552720T>C | CA343129317 | F5 | c.1133A>G (p.Gln378Arg) c.722A>G (p.Gln241Arg) | |
1 | g.169552720T>G | CA343129300 | F5 | c.1133A>C (p.Gln378Pro) c.722A>C (p.Gln241Pro) | |
1 | g.169552721G>A | CA343129324 | F5 | c.1132C>T (p.Gln378Ter) c.721C>T (p.Gln241Ter) | gnomAD v4 |
1 | g.169552721G>C | CA1234406 | F5 | c.1132C>G (p.Gln378Glu) c.721C>G (p.Gln241Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552721G= | CA1206146965 | F5 | c.1132C= (p.Gln378=) c.721C= (p.Gln241=) | |
1 | g.169552721G>T | CA343129321 | F5 | c.1132C>A (p.Gln378Lys) c.721C>A (p.Gln241Lys) | |
1 | g.169552722A>C | CA421732577 | F5 | c.1131T>G (p.Ser377=) c.720T>G (p.Ser240=) | |
1 | g.169552722A>G | CA421732578 | F5 | c.1131T>C (p.Ser377=) c.720T>C (p.Ser240=) | |
1 | g.169552722A>T | CA421732579 | F5 | c.1131T>A (p.Ser377=) c.720T>A (p.Ser240=) | |
1 | g.169552723G>A | CA343129329 | F5 | c.1130C>T (p.Ser377Phe) c.719C>T (p.Ser240Phe) | |
1 | g.169552723G>C | CA343129336 | F5 | c.1130C>G (p.Ser377Cys) c.719C>G (p.Ser240Cys) | |
1 | g.169552723G>T | CA343129340 | F5 | c.1130C>A (p.Ser377Tyr) c.719C>A (p.Ser240Tyr) | |
1 | g.169552724A>C | CA343129354 | F5 | c.1129T>G (p.Ser377Ala) c.718T>G (p.Ser240Ala) | |
1 | g.169552724A>G | CA343129356 | F5 | c.1129T>C (p.Ser377Pro) c.718T>C (p.Ser240Pro) | |
1 | g.169552724A>T | CA343129358 | F5 | c.1129T>A (p.Ser377Thr) c.718T>A (p.Ser240Thr) | |
1 | g.169552725C>A | CA1234407 | F5 | c.1128G>T (p.Arg376Ser) c.717G>T (p.Arg239Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552725C= | CA1143910965 | F5 | c.1128G= (p.Arg376=) c.717G= (p.Arg239=) | |
1 | g.169552725C>G | CA343129367 | F5 | c.1128G>C (p.Arg376Ser) c.717G>C (p.Arg239Ser) | |
1 | g.169552725C>T | CA421732580 | F5 | c.1128G>A (p.Arg376=) c.717G>A (p.Arg239=) | COSMIC |
1 | g.169552726C>A | CA343129370 | F5 | c.1127G>T (p.Arg376Met) c.716G>T (p.Arg239Met) | |
1 | g.169552726C>G | CA343129378 | F5 | c.1127G>C (p.Arg376Thr) c.716G>C (p.Arg239Thr) | |
1 | g.169552726C>T | CA343129380 | F5 | c.1127G>A (p.Arg376Lys) c.716G>A (p.Arg239Lys) | COSMIC |
1 | g.169552727T>A | CA343129393 | F5 | c.1126A>T (p.Arg376Trp) c.715A>T (p.Arg239Trp) | |
1 | g.169552727T>C | CA343129386 | F5 | c.1126A>G (p.Arg376Gly) c.715A>G (p.Arg239Gly) | |
1 | g.169552727T>G | CA421732581 | F5 | c.1126A>C (p.Arg376=) c.715A>C (p.Arg239=) | |
1 | g.169552728G>A | CA421732582 | F5 | c.1125C>T (p.Tyr375=) c.714C>T (p.Tyr238=) | |
1 | g.169552728G>C | CA343129400 | F5 | c.1125C>G (p.Tyr375Ter) c.714C>G (p.Tyr238Ter) | dbSNP |
1 | g.169552728G= | CA1206146973 | F5 | c.1125C= (p.Tyr375=) c.714C= (p.Tyr238=) | |
1 | g.169552728G>T | CA343129404 | F5 | c.1125C>A (p.Tyr375Ter) c.714C>A (p.Tyr238Ter) | |
1 | g.169552729T>A | CA343129411 | F5 | c.1124A>T (p.Tyr375Phe) c.713A>T (p.Tyr238Phe) | |
1 | g.169552729T>C | CA1234408 | F5 | c.1124A>G (p.Tyr375Cys) c.713A>G (p.Tyr238Cys) | dbSNP ExAC gnomAD v2 |
1 | g.169552729T>G | CA343129421 | F5 | c.1124A>C (p.Tyr375Ser) c.713A>C (p.Tyr238Ser) | |
1 | g.169552729T= | CA1206146976 | F5 | c.1124A= (p.Tyr375=) c.713A= (p.Tyr238=) | |
1 | g.169552730A>C | CA343129426 | F5 | c.1123T>G (p.Tyr375Asp) c.712T>G (p.Tyr238Asp) | |
1 | g.169552730A>G | CA343129428 | F5 | c.1123T>C (p.Tyr375His) c.712T>C (p.Tyr238His) | |
1 | g.169552730A>T | CA343129429 | F5 | c.1123T>A (p.Tyr375Asn) c.712T>A (p.Tyr238Asn) | |
1 | g.169552731T>A | CA343129430 | F5 | c.1122A>T (p.Lys374Asn) c.711A>T (p.Lys237Asn) | |
1 | g.169552731T>C | CA421732583 | F5 | c.1122A>G (p.Lys374=) c.711A>G (p.Lys237=) | |
1 | g.169552731T>G | CA343129431 | F5 | c.1122A>C (p.Lys374Asn) c.711A>C (p.Lys237Asn) | |
1 | g.169552732T>A | CA343129432 | F5 | c.1121A>T (p.Lys374Ile) c.710A>T (p.Lys237Ile) | |
1 | g.169552732T>C | CA343129437 | F5 | c.1121A>G (p.Lys374Arg) c.710A>G (p.Lys237Arg) | |
1 | g.169552732T>G | CA343129456 | F5 | c.1121A>C (p.Lys374Thr) c.710A>C (p.Lys237Thr) | |
1 | g.169552733T>A | CA343129476 | F5 | c.1120A>T (p.Lys374Ter) c.709A>T (p.Lys237Ter) | |
1 | g.169552733T>C | CA343129473 | F5 | c.1120A>G (p.Lys374Glu) c.709A>G (p.Lys237Glu) | |
1 | g.169552733T>G | CA343129464 | F5 | c.1120A>C (p.Lys374Gln) c.709A>C (p.Lys237Gln) | |
1 | g.169552734T>A | CA343129483 | F5 | c.1119A>T (p.Lys373Asn) c.708A>T (p.Lys236Asn) | gnomAD v4 |
1 | g.169552734T>C | CA421732584 | F5 | c.1119A>G (p.Lys373=) c.708A>G (p.Lys236=) | |
1 | g.169552734T>G | CA343129488 | F5 | c.1119A>C (p.Lys373Asn) c.708A>C (p.Lys236Asn) | |
1 | g.169552735C>A | CA343129502 | F5 | c.1119-1G>T (n.1119-1G>T) c.708-1G>T (n.708-1G>T) | |
1 | g.169552735C>G | CA343129505 | F5 | c.1119-1G>C (n.1119-1G>C) c.708-1G>C (n.708-1G>C) | COSMIC |
1 | g.169552735C>T | CA343129508 | F5 | c.1119-1G>A (n.1119-1G>A) c.708-1G>A (n.708-1G>A) | |
1 | g.169552736T>A | CA343129510 | F5 | c.1119-2A>T (n.1119-2A>T) c.708-2A>T (n.708-2A>T) | |
1 | g.169552736T>C | CA343129512 | F5 | c.1119-2A>G (n.1119-2A>G) c.708-2A>G (n.708-2A>G) | |
1 | g.169552736T>G | CA343129513 | F5 | c.1119-2A>C (n.1119-2A>C) c.708-2A>C (n.708-2A>C) | |
1 | g.169552737T>A | CA1234409 | F5 | c.1119-3A>T (n.1119-3A>T) c.708-3A>T (n.708-3A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552737T>C | CA2568912502 | F5 | c.1119-3A>G (n.1119-3A>G) c.708-3A>G (n.708-3A>G) | |
1 | g.169552737T= | CA1206146979 | F5 | c.1119-3A= (n.1119-3A=) c.708-3A= (n.708-3A=) | |
1 | g.169552738A= | CA1206146981 | F5 | c.1119-4T= (n.1119-4T=) c.708-4T= (n.708-4T=) | |
1 | g.169552738A>C | CA527131297 | F5 | c.1119-4T>G (n.1119-4T>G) c.708-4T>G (n.708-4T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552741G>A | CA2499214294 | F5 | c.1119-7C>T (n.1119-7C>T) c.708-7C>T (n.708-7C>T) | |
1 | g.169552742T= | CA1206146983 | F5 | c.1119-8A= (n.1119-8A=) c.708-8A= (n.708-8A=) | |
1 | g.169552742_169552743insA | CA1234410 | F5 | c.1119-9_1119-8insT (n.1119-9_1119-8insT) c.708-9_708-8insT (n.708-9_708-8insT) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552743G>A | CA1234411 | F5 | c.1119-9C>T (n.1119-9C>T) c.708-9C>T (n.708-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552743G= | CA1206146987 | F5 | c.1119-9C= (n.1119-9C=) c.708-9C= (n.708-9C=) | |
1 | g.169552743G>T | CA2739275394 | F5 | c.1119-9C>A (n.1119-9C>A) c.708-9C>A (n.708-9C>A) | ClinVar |
1 | g.169552744A= | CA1206146991 | F5 | c.1119-10T= (n.1119-10T=) c.708-10T= (n.708-10T=) | |
1 | g.169552744A>C | CA2649036150 | F5 | c.1119-10T>G (n.1119-10T>G) c.708-10T>G (n.708-10T>G) | gnomAD v4 |
1 | g.169552744A>T | CA527131298 | F5 | c.1119-10T>A (n.1119-10T>A) c.708-10T>A (n.708-10T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552745A= | CA1206146992 | F5 | c.1119-11T= (n.1119-11T=) c.708-11T= (n.708-11T=) | |
1 | g.169552745A>C | CA527131299 | F5 | c.1119-11T>G (n.1119-11T>G) c.708-11T>G (n.708-11T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552745A>G | CA1206146994 | F5 | c.1119-11T>C (n.1119-11T>C) c.708-11T>C (n.708-11T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.169552746G>A | CA527131300 | F5 | c.1119-12C>T (n.1119-12C>T) c.708-12C>T (n.708-12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552746G>C | CA2573948617 | F5 | c.1119-12C>G (n.1119-12C>G) c.708-12C>G (n.708-12C>G) | gnomAD v4 |
1 | g.169552746G= | CA1206146996 | F5 | c.1119-12C= (n.1119-12C=) c.708-12C= (n.708-12C=) | |
1 | g.169552747T>A | CA527131301 | F5 | c.1119-13A>T (n.1119-13A>T) c.708-13A>T (n.708-13A>T) | gnomAD v2 |
1 | g.169552747T>C | CA2746577913 | F5 | c.1119-13A>G (n.1119-13A>G) c.708-13A>G (n.708-13A>G) | |
1 | g.169552747dup | CA1206146998 | F5 | c.1119-13dup (n.1119-13dup) c.708-13dup (n.708-13dup) | dbSNP gnomAD v4 |
1 | g.169552747_169552748delinsTA | CA1206147000 | F5 | c.1119-14_1119-13delinsTA (n.1119-14_1119-13delinsTA) c.708-14_708-13delinsTA (n.708-14_708-13delinsTA) | |
1 | g.169552748A= | CA1206147004 | F5 | c.1119-14T= (n.1119-14T=) c.708-14T= (n.708-14T=) | |
1 | g.169552748A>T | CA1206147006 | F5 | c.1119-14T>A (n.1119-14T>A) c.708-14T>A (n.708-14T>A) | dbSNP gnomAD v4 |
1 | g.169552756dup | CA1234413 | F5 | c.1119-14dup (n.1119-14dup) c.708-14dup (n.708-14dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552755_169552756dup | CA2649036152 | F5 | c.1119-15_1119-14dup (n.1119-15_1119-14dup) c.708-15_708-14dup (n.708-15_708-14dup) | gnomAD v4 |
1 | g.169552756del | CA1234412 | F5 | c.1119-14del (n.1119-14del) c.708-14del (n.708-14del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552749A= | CA1206147008 | F5 | c.1119-15T= (n.1119-15T=) c.708-15T= (n.708-15T=) | |
1 | g.169552749_169552762delinsAAAAAAAATTAAAC | CA1206147010 | F5 | c.1119-28_1119-15delinsGTTTAATTTTTTTT (n.1119-28_1119-15delinsGTTTAATTTTTTTT) c.708-28_708-15delinsGTTTAATTTTTTTT (n.708-28_708-15delinsGTTTAATTTTTTTT) |