Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178856319G>A | CA2006885 | CCDC141 | c.2803C>T (p.Arg935Trp) c.1135C>T (p.Arg379Trp) c.2623C>T (p.Arg875Trp) c.859C>T (p.Arg287Trp) n.1352+27665G>A c.1513C>T (p.Arg505Trp) n.2992C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178856319G>C | CA349443661 | CCDC141 | c.2803C>G (p.Arg935Gly) c.1135C>G (p.Arg379Gly) c.2623C>G (p.Arg875Gly) c.859C>G (p.Arg287Gly) n.1352+27665G>C c.1513C>G (p.Arg505Gly) n.2992C>G | gnomAD v4 |
2 | g.178856319G= | CA1310652990 | CCDC141 | c.2803C= (p.Arg935=) c.1135C= (p.Arg379=) c.2623C= (p.Arg875=) c.859C= (p.Arg287=) n.1352+27665G= c.1513C= (p.Arg505=) n.2992C= | |
2 | g.178856319G>T | CA430102970 | CCDC141 | c.2803C>A (p.Arg935=) c.1135C>A (p.Arg379=) c.2623C>A (p.Arg875=) c.859C>A (p.Arg287=) n.1352+27665G>T c.1513C>A (p.Arg505=) n.2992C>A | dbSNP COSMIC COSMIC |
2 | g.178856320A>C | CA430102974 | CCDC141 | c.2802T>G (p.Ser934=) c.1134T>G (p.Ser378=) c.2622T>G (p.Ser874=) c.858T>G (p.Ser286=) n.1352+27666A>C c.1512T>G (p.Ser504=) n.2991T>G | |
2 | g.178856320A>G | CA430102978 | CCDC141 | c.2802T>C (p.Ser934=) c.1134T>C (p.Ser378=) c.2622T>C (p.Ser874=) c.858T>C (p.Ser286=) n.1352+27666A>G c.1512T>C (p.Ser504=) n.2991T>C | |
2 | g.178856320A>T | CA430102976 | CCDC141 | c.2802T>A (p.Ser934=) c.1134T>A (p.Ser378=) c.2622T>A (p.Ser874=) c.858T>A (p.Ser286=) n.1352+27666A>T c.1512T>A (p.Ser504=) n.2991T>A | |
2 | g.178856321G>A | CA349443667 | CCDC141 | c.2801C>T (p.Ser934Phe) c.1133C>T (p.Ser378Phe) c.2621C>T (p.Ser874Phe) c.857C>T (p.Ser286Phe) n.1352+27667G>A c.1511C>T (p.Ser504Phe) n.2990C>T | |
2 | g.178856321G>C | CA349443673 | CCDC141 | c.2801C>G (p.Ser934Cys) c.1133C>G (p.Ser378Cys) c.2621C>G (p.Ser874Cys) c.857C>G (p.Ser286Cys) n.1352+27667G>C c.1511C>G (p.Ser504Cys) n.2990C>G | |
2 | g.178856321G>T | CA349443678 | CCDC141 | c.2801C>A (p.Ser934Tyr) c.1133C>A (p.Ser378Tyr) c.2621C>A (p.Ser874Tyr) c.857C>A (p.Ser286Tyr) n.1352+27667G>T c.1511C>A (p.Ser504Tyr) n.2990C>A | gnomAD v4 COSMIC COSMIC |
2 | g.178856322A= | CA1310652991 | CCDC141 | c.2800T= (p.Ser934=) c.1132T= (p.Ser378=) c.2620T= (p.Ser874=) c.856T= (p.Ser286=) n.1352+27668A= c.1510T= (p.Ser504=) n.2989T= | |
2 | g.178856322A>C | CA349443685 | CCDC141 | c.2800T>G (p.Ser934Ala) c.1132T>G (p.Ser378Ala) c.2620T>G (p.Ser874Ala) c.856T>G (p.Ser286Ala) n.1352+27668A>C c.1510T>G (p.Ser504Ala) n.2989T>G | |
2 | g.178856322A>G | CA2006886 | CCDC141 | c.2800T>C (p.Ser934Pro) c.1132T>C (p.Ser378Pro) c.2620T>C (p.Ser874Pro) c.856T>C (p.Ser286Pro) n.1352+27668A>G c.1510T>C (p.Ser504Pro) n.2989T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178856322A>T | CA349443703 | CCDC141 | c.2800T>A (p.Ser934Thr) c.1132T>A (p.Ser378Thr) c.2620T>A (p.Ser874Thr) c.856T>A (p.Ser286Thr) n.1352+27668A>T c.1510T>A (p.Ser504Thr) n.2989T>A | |
2 | g.178856323T>A | CA349443718 | CCDC141 | c.2799A>T (p.Lys933Asn) c.1131A>T (p.Lys377Asn) c.2619A>T (p.Lys873Asn) c.855A>T (p.Lys285Asn) n.1352+27669T>A c.1509A>T (p.Lys503Asn) n.2988A>T | |
2 | g.178856323T>C | CA2006887 | CCDC141 | c.2799A>G (p.Lys933=) c.1131A>G (p.Lys377=) c.2619A>G (p.Lys873=) c.855A>G (p.Lys285=) n.1352+27669T>C c.1509A>G (p.Lys503=) n.2988A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178856323T>G | CA349443711 | CCDC141 | c.2799A>C (p.Lys933Asn) c.1131A>C (p.Lys377Asn) c.2619A>C (p.Lys873Asn) c.855A>C (p.Lys285Asn) n.1352+27669T>G c.1509A>C (p.Lys503Asn) n.2988A>C | |
2 | g.178856323T= | CA1310652992 | CCDC141 | c.2799A= (p.Lys933=) c.1131A= (p.Lys377=) c.2619A= (p.Lys873=) c.855A= (p.Lys285=) n.1352+27669T= c.1509A= (p.Lys503=) n.2988A= | |
2 | g.178856324T>A | CA349443722 | CCDC141 | c.2798A>T (p.Lys933Ile) c.1130A>T (p.Lys377Ile) c.2618A>T (p.Lys873Ile) c.854A>T (p.Lys285Ile) n.1352+27670T>A c.1508A>T (p.Lys503Ile) n.2987A>T | |
2 | g.178856324T>C | CA349443732 | CCDC141 | c.2798A>G (p.Lys933Arg) c.1130A>G (p.Lys377Arg) c.2618A>G (p.Lys873Arg) c.854A>G (p.Lys285Arg) n.1352+27670T>C c.1508A>G (p.Lys503Arg) n.2987A>G | |
2 | g.178856324T>G | CA349443729 | CCDC141 | c.2798A>C (p.Lys933Thr) c.1130A>C (p.Lys377Thr) c.2618A>C (p.Lys873Thr) c.854A>C (p.Lys285Thr) n.1352+27670T>G c.1508A>C (p.Lys503Thr) n.2987A>C | |
2 | g.178856325T>A | CA349443739 | CCDC141 | c.2797A>T (p.Lys933Ter) c.1129A>T (p.Lys377Ter) c.2617A>T (p.Lys873Ter) c.853A>T (p.Lys285Ter) n.1352+27671T>A c.1507A>T (p.Lys503Ter) n.2986A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178856325T>C | CA349443741 | CCDC141 | c.2797A>G (p.Lys933Glu) c.1129A>G (p.Lys377Glu) c.2617A>G (p.Lys873Glu) c.853A>G (p.Lys285Glu) n.1352+27671T>C c.1507A>G (p.Lys503Glu) n.2986A>G | |
2 | g.178856325T>G | CA349443740 | CCDC141 | c.2797A>C (p.Lys933Gln) c.1129A>C (p.Lys377Gln) c.2617A>C (p.Lys873Gln) c.853A>C (p.Lys285Gln) n.1352+27671T>G c.1507A>C (p.Lys503Gln) n.2986A>C | |
2 | g.178856325T= | CA1310652993 | CCDC141 | c.2797A= (p.Lys933=) c.1129A= (p.Lys377=) c.2617A= (p.Lys873=) c.853A= (p.Lys285=) n.1352+27671T= c.1507A= (p.Lys503=) n.2986A= | |
2 | g.178856326T>A | CA349443745 | CCDC141 | c.2796A>T (p.Glu932Asp) c.1128A>T (p.Glu376Asp) c.2616A>T (p.Glu872Asp) c.852A>T (p.Glu284Asp) n.1352+27672T>A c.1506A>T (p.Glu502Asp) n.2985A>T | |
2 | g.178856326T>C | CA430103421 | CCDC141 | c.2796A>G (p.Glu932=) c.1128A>G (p.Glu376=) c.2616A>G (p.Glu872=) c.852A>G (p.Glu284=) n.1352+27672T>C c.1506A>G (p.Glu502=) n.2985A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178856326T>G | CA349443748 | CCDC141 | c.2796A>C (p.Glu932Asp) c.1128A>C (p.Glu376Asp) c.2616A>C (p.Glu872Asp) c.852A>C (p.Glu284Asp) n.1352+27672T>G c.1506A>C (p.Glu502Asp) n.2985A>C | |
2 | g.178856326T= | CA1310652994 | CCDC141 | c.2796A= (p.Glu932=) c.1128A= (p.Glu376=) c.2616A= (p.Glu872=) c.852A= (p.Glu284=) n.1352+27672T= c.1506A= (p.Glu502=) n.2985A= | |
2 | g.178856327T>A | CA349443754 | CCDC141 | c.2795A>T (p.Glu932Val) c.1127A>T (p.Glu376Val) c.2615A>T (p.Glu872Val) c.851A>T (p.Glu284Val) n.1352+27673T>A c.1505A>T (p.Glu502Val) n.2984A>T | |
2 | g.178856327T>C | CA349443762 | CCDC141 | c.2795A>G (p.Glu932Gly) c.1127A>G (p.Glu376Gly) c.2615A>G (p.Glu872Gly) c.851A>G (p.Glu284Gly) n.1352+27673T>C c.1505A>G (p.Glu502Gly) n.2984A>G | |
2 | g.178856327T>G | CA349443772 | CCDC141 | c.2795A>C (p.Glu932Ala) c.1127A>C (p.Glu376Ala) c.2615A>C (p.Glu872Ala) c.851A>C (p.Glu284Ala) n.1352+27673T>G c.1505A>C (p.Glu502Ala) n.2984A>C | |
2 | g.178856327T= | CA1310652995 | CCDC141 | c.2795A= (p.Glu932=) c.1127A= (p.Glu376=) c.2615A= (p.Glu872=) c.851A= (p.Glu284=) n.1352+27673T= c.1505A= (p.Glu502=) n.2984A= | |
2 | g.178856328C>A | CA349443773 | CCDC141 | c.2794G>T (p.Glu932Ter) c.1126G>T (p.Glu376Ter) c.2614G>T (p.Glu872Ter) c.850G>T (p.Glu284Ter) n.1352+27674C>A c.1504G>T (p.Glu502Ter) n.2983G>T | |
2 | g.178856328C= | CA1310652996 | CCDC141 | c.2794G= (p.Glu932=) c.1126G= (p.Glu376=) c.2614G= (p.Glu872=) c.850G= (p.Glu284=) n.1352+27674C= c.1504G= (p.Glu502=) n.2983G= | |
2 | g.178856328C>G | CA349443774 | CCDC141 | c.2794G>C (p.Glu932Gln) c.1126G>C (p.Glu376Gln) c.2614G>C (p.Glu872Gln) c.850G>C (p.Glu284Gln) n.1352+27674C>G c.1504G>C (p.Glu502Gln) n.2983G>C | dbSNP |
2 | g.178856328C>T | CA60988068 | CCDC141 | c.2794G>A (p.Glu932Lys) c.1126G>A (p.Glu376Lys) c.2614G>A (p.Glu872Lys) c.850G>A (p.Glu284Lys) n.1352+27674C>T c.1504G>A (p.Glu502Lys) n.2983G>A | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.178856328dup | CA538093286 | CCDC141 | c.2794dup (p.Glu932GlyfsTer10) c.1126dup (p.Glu376GlyfsTer10) c.2614dup (p.Glu872GlyfsTer10) c.850dup (p.Glu284GlyfsTer10) n.1352+27674dup c.1504dup (p.Glu502GlyfsTer10) n.2983dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178856329A>C | CA349443782 | CCDC141 | c.2793T>G (p.Asn931Lys) c.1125T>G (p.Asn375Lys) c.2613T>G (p.Asn871Lys) c.849T>G (p.Asn283Lys) n.1352+27675A>C c.1503T>G (p.Asn501Lys) n.2982T>G | |
2 | g.178856329A>G | CA430103423 | CCDC141 | c.2793T>C (p.Asn931=) c.1125T>C (p.Asn375=) c.2613T>C (p.Asn871=) c.849T>C (p.Asn283=) n.1352+27675A>G c.1503T>C (p.Asn501=) n.2982T>C | |
2 | g.178856329A>T | CA349443783 | CCDC141 | c.2793T>A (p.Asn931Lys) c.1125T>A (p.Asn375Lys) c.2613T>A (p.Asn871Lys) c.849T>A (p.Asn283Lys) n.1352+27675A>T c.1503T>A (p.Asn501Lys) n.2982T>A | |
2 | g.178856330T>A | CA349443798 | CCDC141 | c.2792A>T (p.Asn931Ile) c.1124A>T (p.Asn375Ile) c.2612A>T (p.Asn871Ile) c.848A>T (p.Asn283Ile) n.1352+27676T>A c.1502A>T (p.Asn501Ile) n.2981A>T | |
2 | g.178856330T>C | CA349443790 | CCDC141 | c.2792A>G (p.Asn931Ser) c.1124A>G (p.Asn375Ser) c.2612A>G (p.Asn871Ser) c.848A>G (p.Asn283Ser) n.1352+27676T>C c.1502A>G (p.Asn501Ser) n.2981A>G | |
2 | g.178856330T>G | CA349443785 | CCDC141 | c.2792A>C (p.Asn931Thr) c.1124A>C (p.Asn375Thr) c.2612A>C (p.Asn871Thr) c.848A>C (p.Asn283Thr) n.1352+27676T>G c.1502A>C (p.Asn501Thr) n.2981A>C | |
2 | g.178856331T>A | CA349443810 | CCDC141 | c.2791A>T (p.Asn931Tyr) c.1123A>T (p.Asn375Tyr) c.2611A>T (p.Asn871Tyr) c.847A>T (p.Asn283Tyr) n.1352+27677T>A c.1501A>T (p.Asn501Tyr) n.2980A>T | |
2 | g.178856331T>C | CA2006888 | CCDC141 | c.2791A>G (p.Asn931Asp) c.1123A>G (p.Asn375Asp) c.2611A>G (p.Asn871Asp) c.847A>G (p.Asn283Asp) n.1352+27677T>C c.1501A>G (p.Asn501Asp) n.2980A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178856331T>G | CA349443817 | CCDC141 | c.2791A>C (p.Asn931His) c.1123A>C (p.Asn375His) c.2611A>C (p.Asn871His) c.847A>C (p.Asn283His) n.1352+27677T>G c.1501A>C (p.Asn501His) n.2980A>C | |
2 | g.178856331T= | CA1310652997 | CCDC141 | c.2791A= (p.Asn931=) c.1123A= (p.Asn375=) c.2611A= (p.Asn871=) c.847A= (p.Asn283=) n.1352+27677T= c.1501A= (p.Asn501=) n.2980A= | |
2 | g.178856332T>A | CA349443821 | CCDC141 | c.2790A>T (p.Lys930Asn) c.1122A>T (p.Lys374Asn) c.2610A>T (p.Lys870Asn) c.846A>T (p.Lys282Asn) n.1352+27678T>A c.1500A>T (p.Lys500Asn) n.2979A>T | |
2 | g.178856332T>C | CA430103427 | CCDC141 | c.2790A>G (p.Lys930=) c.1122A>G (p.Lys374=) c.2610A>G (p.Lys870=) c.846A>G (p.Lys282=) n.1352+27678T>C c.1500A>G (p.Lys500=) n.2979A>G |