Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.48224300A>C | CA395824766 | ABCC11 | c.525T>G (p.Ile175Met) n.923T>G c.327T>G (p.Ile109Met) n.3203T>G | gnomAD v4 |
16 | g.48224300A>G | CA495128974 | ABCC11 | c.525T>C (p.Ile175=) n.923T>C c.327T>C (p.Ile109=) n.3203T>C | |
16 | g.48224300A>T | CA495128973 | ABCC11 | c.525T>A (p.Ile175=) n.923T>A c.327T>A (p.Ile109=) n.3203T>A | gnomAD v4 |
16 | g.48224301dup | CA2633067835 | ABCC11 | c.525dup (p.Ala176CysfsTer?) n.923dup c.327dup (p.Ala110CysfsTer?) n.3203dup | gnomAD v4 |
16 | g.48224301A= | CA2220718238 | ABCC11 | c.524T= (p.Ile175=) n.922T= c.326T= (p.Ile109=) n.3202T= | |
16 | g.48224301A>C | CA395824768 | ABCC11 | c.524T>G (p.Ile175Ser) n.922T>G c.326T>G (p.Ile109Ser) n.3202T>G | |
16 | g.48224301A>G | CA8044172 | ABCC11 | c.524T>C (p.Ile175Thr) n.922T>C c.326T>C (p.Ile109Thr) n.3202T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48224301A>T | CA395824767 | ABCC11 | c.524T>A (p.Ile175Asn) n.922T>A c.326T>A (p.Ile109Asn) n.3202T>A | |
16 | g.48224302T>A | CA395824770 | ABCC11 | c.523A>T (p.Ile175Phe) n.921A>T c.325A>T (p.Ile109Phe) n.3201A>T | |
16 | g.48224302T>C | CA395824769 | ABCC11 | c.523A>G (p.Ile175Val) n.921A>G c.325A>G (p.Ile109Val) n.3201A>G | |
16 | g.48224302T>G | CA395824771 | ABCC11 | c.523A>C (p.Ile175Leu) n.921A>C c.325A>C (p.Ile109Leu) n.3201A>C | |
16 | g.48224303G>A | CA8044173 | ABCC11 | c.522C>T (p.Cys174=) n.920C>T c.324C>T (p.Cys108=) n.3200C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.48224303G>C | CA395824772 | ABCC11 | c.522C>G (p.Cys174Trp) n.920C>G c.324C>G (p.Cys108Trp) n.3200C>G | |
16 | g.48224303G= | CA2220718241 | ABCC11 | c.522C= (p.Cys174=) n.920C= c.324C= (p.Cys108=) n.3200C= | |
16 | g.48224303G>T | CA395824773 | ABCC11 | c.522C>A (p.Cys174Ter) n.920C>A c.324C>A (p.Cys108Ter) n.3200C>A | |
16 | g.48224304C>A | CA395824774 | ABCC11 | c.521G>T (p.Cys174Phe) n.919G>T c.323G>T (p.Cys108Phe) n.3199G>T | |
16 | g.48224304C>G | CA395824775 | ABCC11 | c.521G>C (p.Cys174Ser) n.919G>C c.323G>C (p.Cys108Ser) n.3199G>C | |
16 | g.48224304C>T | CA395824776 | ABCC11 | c.521G>A (p.Cys174Tyr) n.919G>A c.323G>A (p.Cys108Tyr) n.3199G>A | dbSNP |
16 | g.48224305A>C | CA395824777 | ABCC11 | c.520T>G (p.Cys174Gly) n.918T>G c.322T>G (p.Cys108Gly) n.3198T>G | |
16 | g.48224305A>G | CA395824778 | ABCC11 | c.520T>C (p.Cys174Arg) n.918T>C c.322T>C (p.Cys108Arg) n.3198T>C | |
16 | g.48224305A>T | CA395824779 | ABCC11 | c.520T>A (p.Cys174Ser) n.918T>A c.322T>A (p.Cys108Ser) n.3198T>A | |
16 | g.48224306G>A | CA495128975 | ABCC11 | c.519C>T (p.Phe173=) n.917C>T c.321C>T (p.Phe107=) n.3197C>T | |
16 | g.48224306G>C | CA395824780 | ABCC11 | c.519C>G (p.Phe173Leu) n.917C>G c.321C>G (p.Phe107Leu) n.3197C>G | |
16 | g.48224306G>T | CA395824781 | ABCC11 | c.519C>A (p.Phe173Leu) n.917C>A c.321C>A (p.Phe107Leu) n.3197C>A | |
16 | g.48224307A>C | CA395824784 | ABCC11 | c.518T>G (p.Phe173Cys) n.916T>G c.320T>G (p.Phe107Cys) n.3196T>G | |
16 | g.48224307A>G | CA395824783 | ABCC11 | c.518T>C (p.Phe173Ser) n.916T>C c.320T>C (p.Phe107Ser) n.3196T>C | |
16 | g.48224307A>T | CA395824782 | ABCC11 | c.518T>A (p.Phe173Tyr) n.916T>A c.320T>A (p.Phe107Tyr) n.3196T>A | |
16 | g.48224308A= | CA2220718245 | ABCC11 | c.517T= (p.Phe173=) n.915T= c.319T= (p.Phe107=) n.3195T= | |
16 | g.48224308A>C | CA280264453 | ABCC11 | c.517T>G (p.Phe173Val) n.915T>G c.319T>G (p.Phe107Val) n.3195T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.48224308A>G | CA395824785 | ABCC11 | c.517T>C (p.Phe173Leu) n.915T>C c.319T>C (p.Phe107Leu) n.3195T>C | |
16 | g.48224308A>T | CA395824786 | ABCC11 | c.517T>A (p.Phe173Ile) n.915T>A c.319T>A (p.Phe107Ile) n.3195T>A | |
16 | g.48224309G>A | CA495128977 | ABCC11 | c.516C>T (p.Cys172=) n.914C>T c.318C>T (p.Cys106=) n.3194C>T | |
16 | g.48224309G>C | CA395824787 | ABCC11 | c.516C>G (p.Cys172Trp) n.914C>G c.318C>G (p.Cys106Trp) n.3194C>G | |
16 | g.48224309G>T | CA395824788 | ABCC11 | c.516C>A (p.Cys172Ter) n.914C>A c.318C>A (p.Cys106Ter) n.3194C>A | gnomAD v4 COSMIC |
16 | g.48224310C>A | CA395824789 | ABCC11 | c.515G>T (p.Cys172Phe) n.913G>T c.317G>T (p.Cys106Phe) n.3193G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.48224310C= | CA2220718254 | ABCC11 | c.515G= (p.Cys172=) n.913G= c.317G= (p.Cys106=) n.3193G= | |
16 | g.48224310C>G | CA395824790 | ABCC11 | c.515G>C (p.Cys172Ser) n.913G>C c.317G>C (p.Cys106Ser) n.3193G>C | |
16 | g.48224310C>T | CA395824791 | ABCC11 | c.515G>A (p.Cys172Tyr) n.913G>A c.317G>A (p.Cys106Tyr) n.3193G>A | |
16 | g.48224311A>C | CA395824792 | ABCC11 | c.514T>G (p.Cys172Gly) n.912T>G c.316T>G (p.Cys106Gly) n.3192T>G | |
16 | g.48224311A>G | CA395824793 | ABCC11 | c.514T>C (p.Cys172Arg) n.912T>C c.316T>C (p.Cys106Arg) n.3192T>C | |
16 | g.48224311A>T | CA395824794 | ABCC11 | c.514T>A (p.Cys172Ser) n.912T>A c.316T>A (p.Cys106Ser) n.3192T>A | gnomAD v4 |
16 | g.48224312G>A | CA495128978 | ABCC11 | c.513C>T (p.Ile171=) n.911C>T c.315C>T (p.Ile105=) n.3191C>T | dbSNP gnomAD v4 COSMIC |
16 | g.48224312G>C | CA395824795 | ABCC11 | c.513C>G (p.Ile171Met) n.911C>G c.315C>G (p.Ile105Met) n.3191C>G | |
16 | g.48224312G>T | CA495128979 | ABCC11 | c.513C>A (p.Ile171=) n.911C>A c.315C>A (p.Ile105=) n.3191C>A | |
16 | g.48224313A>C | CA395824797 | ABCC11 | c.512T>G (p.Ile171Ser) n.910T>G c.314T>G (p.Ile105Ser) n.3190T>G | |
16 | g.48224313A>G | CA395824798 | ABCC11 | c.512T>C (p.Ile171Thr) n.910T>C c.314T>C (p.Ile105Thr) n.3190T>C | |
16 | g.48224313A>T | CA395824796 | ABCC11 | c.512T>A (p.Ile171Asn) n.910T>A c.314T>A (p.Ile105Asn) n.3190T>A | |
16 | g.48224314T>A | CA395824799 | ABCC11 | c.511A>T (p.Ile171Phe) n.909A>T c.313A>T (p.Ile105Phe) n.3189A>T | |
16 | g.48224314T>C | CA395824800 | ABCC11 | c.511A>G (p.Ile171Val) n.909A>G c.313A>G (p.Ile105Val) n.3189A>G | |
16 | g.48224314T>G | CA395824801 | ABCC11 | c.511A>C (p.Ile171Leu) n.909A>C c.313A>C (p.Ile105Leu) n.3189A>C |