OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 16 | g.48224315G>A | CA495128980 | ABCC11 | c.510C>T (p.Gly170=) n.908C>T c.312C>T (p.Gly104=) n.3188C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224315G>C | CA495128981 | ABCC11 | c.510C>G (p.Gly170=) n.908C>G c.312C>G (p.Gly104=) n.3188C>G | |
| 16 | g.48224315G= | CA2220718261 | ABCC11 | c.510C= (p.Gly170=) n.908C= c.312C= (p.Gly104=) n.3188C= | |
| 16 | g.48224315G>T | CA495128982 | ABCC11 | c.510C>A (p.Gly170=) n.908C>A c.312C>A (p.Gly104=) n.3188C>A | |
| 16 | g.48224315_48224316delinsGC | CA2220718267 | ABCC11 | c.509_510delinsGC (p.Gly170=) n.907_908delinsGC c.311_312delinsGC (p.Gly104=) n.3187_3188delinsGC | |
| 16 | g.48224316C>A | CA395824802 | ABCC11 | c.509G>T (p.Gly170Val) n.907G>T c.311G>T (p.Gly104Val) n.3187G>T | |
| 16 | g.48224316C>G | CA395824803 | ABCC11 | c.509G>C (p.Gly170Ala) n.907G>C c.311G>C (p.Gly104Ala) n.3187G>C | |
| 16 | g.48224316C>T | CA395824804 | ABCC11 | c.509G>A (p.Gly170Asp) n.907G>A c.311G>A (p.Gly104Asp) n.3187G>A | gnomAD v4 |
| 16 | g.48224318del | CA721148245 | ABCC11 | c.509del (p.Gly170AlafsTer14) n.907del c.311del (p.Gly104AlafsTer14) n.3187del | dbSNP |
| 16 | g.48224317C>A | CA395824807 | ABCC11 | c.508G>T (p.Gly170Cys) n.906G>T c.310G>T (p.Gly104Cys) n.3186G>T | |
| 16 | g.48224317C>G | CA395824805 | ABCC11 | c.508G>C (p.Gly170Arg) n.906G>C c.310G>C (p.Gly104Arg) n.3186G>C | |
| 16 | g.48224317C>T | CA395824806 | ABCC11 | c.508G>A (p.Gly170Ser) n.906G>A c.310G>A (p.Gly104Ser) n.3186G>A | |
| 16 | g.48224318C>A | CA495128983 | ABCC11 | c.507G>T (p.Leu169=) n.905G>T c.309G>T (p.Leu103=) n.3185G>T | |
| 16 | g.48224318C>G | CA495128984 | ABCC11 | c.507G>C (p.Leu169=) n.905G>C c.309G>C (p.Leu103=) n.3185G>C | |
| 16 | g.48224318C>T | CA495128985 | ABCC11 | c.507G>A (p.Leu169=) n.905G>A c.309G>A (p.Leu103=) n.3185G>A | gnomAD v4 |
| 16 | g.48224319A>C | CA395824808 | ABCC11 | c.506T>G (p.Leu169Arg) n.904T>G c.308T>G (p.Leu103Arg) n.3184T>G | |
| 16 | g.48224319A>G | CA395824809 | ABCC11 | c.506T>C (p.Leu169Pro) n.904T>C c.308T>C (p.Leu103Pro) n.3184T>C | |
| 16 | g.48224319A>T | CA395824810 | ABCC11 | c.506T>A (p.Leu169Gln) n.904T>A c.308T>A (p.Leu103Gln) n.3184T>A | |
| 16 | g.48224320G>A | CA495128986 | ABCC11 | c.505C>T (p.Leu169=) n.903C>T c.307C>T (p.Leu103=) n.3183C>T | gnomAD v4 |
| 16 | g.48224320G>C | CA395824811 | ABCC11 | c.505C>G (p.Leu169Val) n.903C>G c.307C>G (p.Leu103Val) n.3183C>G | |
| 16 | g.48224320G>T | CA395824812 | ABCC11 | c.505C>A (p.Leu169Met) n.903C>A c.307C>A (p.Leu103Met) n.3183C>A | |
| 16 | g.48224321A>C | CA495128987 | ABCC11 | c.504T>G (p.Leu168=) n.902T>G c.306T>G (p.Leu102=) n.3182T>G | |
| 16 | g.48224321A>G | CA495128988 | ABCC11 | c.504T>C (p.Leu168=) n.902T>C c.306T>C (p.Leu102=) n.3182T>C | |
| 16 | g.48224321A>T | CA495128989 | ABCC11 | c.504T>A (p.Leu168=) n.902T>A c.306T>A (p.Leu102=) n.3182T>A | |
| 16 | g.48224322A>C | CA395824813 | ABCC11 | c.503T>G (p.Leu168Arg) n.901T>G c.305T>G (p.Leu102Arg) n.3181T>G | |
| 16 | g.48224322A>G | CA395824815 | ABCC11 | c.503T>C (p.Leu168Pro) n.901T>C c.305T>C (p.Leu102Pro) n.3181T>C | |
| 16 | g.48224322A>T | CA395824814 | ABCC11 | c.503T>A (p.Leu168His) n.901T>A c.305T>A (p.Leu102His) n.3181T>A | |
| 16 | g.48224323G>A | CA395824816 | ABCC11 | c.502C>T (p.Leu168Phe) n.900C>T c.304C>T (p.Leu102Phe) n.3180C>T | |
| 16 | g.48224323G>C | CA395824817 | ABCC11 | c.502C>G (p.Leu168Val) n.900C>G c.304C>G (p.Leu102Val) n.3180C>G | gnomAD v4 |
| 16 | g.48224323G= | CA2220718278 | ABCC11 | c.502C= (p.Leu168=) n.900C= c.304C= (p.Leu102=) n.3180C= | |
| 16 | g.48224323G>T | CA395824818 | ABCC11 | c.502C>A (p.Leu168Ile) n.900C>A c.304C>A (p.Leu102Ile) n.3180C>A | dbSNP gnomAD v4 |
| 16 | g.48224324T>A | CA495128990 | ABCC11 | c.501A>T (p.Ala167=) n.899A>T c.303A>T (p.Ala101=) n.3179A>T | dbSNP gnomAD v4 |
| 16 | g.48224324T>C | CA495128992 | ABCC11 | c.501A>G (p.Ala167=) n.899A>G c.303A>G (p.Ala101=) n.3179A>G | |
| 16 | g.48224324T>G | CA495128991 | ABCC11 | c.501A>C (p.Ala167=) n.899A>C c.303A>C (p.Ala101=) n.3179A>C | |
| 16 | g.48224324T= | CA2220718288 | ABCC11 | c.501A= (p.Ala167=) n.899A= c.303A= (p.Ala101=) n.3179A= | |
| 16 | g.48224325G>A | CA395824819 | ABCC11 | c.500C>T (p.Ala167Val) n.898C>T c.302C>T (p.Ala101Val) n.3178C>T | dbSNP gnomAD v4 |
| 16 | g.48224325G>C | CA395824820 | ABCC11 | c.500C>G (p.Ala167Gly) n.898C>G c.302C>G (p.Ala101Gly) n.3178C>G | |
| 16 | g.48224325G>T | CA395824821 | ABCC11 | c.500C>A (p.Ala167Glu) n.898C>A c.302C>A (p.Ala101Glu) n.3178C>A | gnomAD v4 COSMIC |
| 16 | g.48224326C>A | CA395824822 | ABCC11 | c.499G>T (p.Ala167Ser) n.897G>T c.301G>T (p.Ala101Ser) n.3177G>T | COSMIC |
| 16 | g.48224326C= | CA2220718291 | ABCC11 | c.499G= (p.Ala167=) n.897G= c.301G= (p.Ala101=) n.3177G= | |
| 16 | g.48224326C>G | CA395824823 | ABCC11 | c.499G>C (p.Ala167Pro) n.897G>C c.301G>C (p.Ala101Pro) n.3177G>C | |
| 16 | g.48224326C>T | CA8044174 | ABCC11 | c.499G>A (p.Ala167Thr) n.897G>A c.301G>A (p.Ala101Thr) n.3177G>A | dbSNP ExAC gnomAD v2 |
| 16 | g.48224327A= | CA2220718301 | ABCC11 | c.498T= (p.Asp166=) n.896T= c.300T= (p.Asp100=) n.3176T= | |
| 16 | g.48224327A>C | CA395824824 | ABCC11 | c.498T>G (p.Asp166Glu) n.896T>G c.300T>G (p.Asp100Glu) n.3176T>G | |
| 16 | g.48224327A>G | CA8044175 | ABCC11 | c.498T>C (p.Asp166=) n.896T>C c.300T>C (p.Asp100=) n.3176T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224327A>T | CA395824825 | ABCC11 | c.498T>A (p.Asp166Glu) n.896T>A c.300T>A (p.Asp100Glu) n.3176T>A | |
| 16 | g.48224328T>A | CA395824827 | ABCC11 | c.497A>T (p.Asp166Val) n.895A>T c.299A>T (p.Asp100Val) n.3175A>T | |
| 16 | g.48224328T>C | CA395824828 | ABCC11 | c.497A>G (p.Asp166Gly) n.895A>G c.299A>G (p.Asp100Gly) n.3175A>G | |
| 16 | g.48224328T>G | CA395824826 | ABCC11 | c.497A>C (p.Asp166Ala) n.895A>C c.299A>C (p.Asp100Ala) n.3175A>C | |
| 16 | g.48224329C>A | CA395824829 | ABCC11 | c.496G>T (p.Asp166Tyr) n.894G>T c.298G>T (p.Asp100Tyr) n.3174G>T | |
| 16 | g.48224329C= | CA2220718305 | ABCC11 | c.496G= (p.Asp166=) n.894G= c.298G= (p.Asp100=) n.3174G= | |
| 16 | g.48224329C>G | CA395824830 | ABCC11 | c.496G>C (p.Asp166His) n.894G>C c.298G>C (p.Asp100His) n.3174G>C | |
| 16 | g.48224329C>T | CA8044176 | ABCC11 | c.496G>A (p.Asp166Asn) n.894G>A c.298G>A (p.Asp100Asn) n.3174G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224330G>A | CA8044177 | ABCC11 | c.495C>T (p.Phe165=) n.893C>T c.297C>T (p.Phe99=) n.3173C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.48224330G>C | CA395824832 | ABCC11 | c.495C>G (p.Phe165Leu) n.893C>G c.297C>G (p.Phe99Leu) n.3173C>G | |
| 16 | g.48224330G= | CA2220718308 | ABCC11 | c.495C= (p.Phe165=) n.893C= c.297C= (p.Phe99=) n.3173C= | |
| 16 | g.48224330G>T | CA395824831 | ABCC11 | c.495C>A (p.Phe165Leu) n.893C>A c.297C>A (p.Phe99Leu) n.3173C>A | |
| 16 | g.48224331A>C | CA395824833 | ABCC11 | c.494T>G (p.Phe165Cys) n.892T>G c.296T>G (p.Phe99Cys) n.3172T>G | |
| 16 | g.48224331A>G | CA395824834 | ABCC11 | c.494T>C (p.Phe165Ser) n.892T>C c.296T>C (p.Phe99Ser) n.3172T>C | |
| 16 | g.48224331A>T | CA395824835 | ABCC11 | c.494T>A (p.Phe165Tyr) n.892T>A c.296T>A (p.Phe99Tyr) n.3172T>A | |
| 16 | g.48224332A>C | CA395824836 | ABCC11 | c.493T>G (p.Phe165Val) n.891T>G c.295T>G (p.Phe99Val) n.3171T>G | |
| 16 | g.48224332A>G | CA395824837 | ABCC11 | c.493T>C (p.Phe165Leu) n.891T>C c.295T>C (p.Phe99Leu) n.3171T>C | |
| 16 | g.48224332A>T | CA395824838 | ABCC11 | c.493T>A (p.Phe165Ile) n.891T>A c.295T>A (p.Phe99Ile) n.3171T>A | |
| 16 | g.48224333A>C | CA395824839 | ABCC11 | c.492T>G (p.Ile164Met) n.890T>G c.294T>G (p.Ile98Met) n.3170T>G | |
| 16 | g.48224333A>G | CA495128995 | ABCC11 | c.492T>C (p.Ile164=) n.890T>C c.294T>C (p.Ile98=) n.3170T>C | |
| 16 | g.48224333A>T | CA495128994 | ABCC11 | c.492T>A (p.Ile164=) n.890T>A c.294T>A (p.Ile98=) n.3170T>A | |
| 16 | g.48224334A= | CA2220718314 | ABCC11 | c.491T= (p.Ile164=) n.889T= c.293T= (p.Ile98=) n.3169T= | |
| 16 | g.48224334A>C | CA395824840 | ABCC11 | c.491T>G (p.Ile164Ser) n.889T>G c.293T>G (p.Ile98Ser) n.3169T>G | |
| 16 | g.48224334A>G | CA8044178 | ABCC11 | c.491T>C (p.Ile164Thr) n.889T>C c.293T>C (p.Ile98Thr) n.3169T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224334A>T | CA395824841 | ABCC11 | c.491T>A (p.Ile164Asn) n.889T>A c.293T>A (p.Ile98Asn) n.3169T>A | |
| 16 | g.48224335T>A | CA395824844 | ABCC11 | c.490A>T (p.Ile164Phe) n.888A>T c.292A>T (p.Ile98Phe) n.3168A>T | |
| 16 | g.48224335T>C | CA395824842 | ABCC11 | c.490A>G (p.Ile164Val) n.888A>G c.292A>G (p.Ile98Val) n.3168A>G | |
| 16 | g.48224335T>G | CA395824843 | ABCC11 | c.490A>C (p.Ile164Leu) n.888A>C c.292A>C (p.Ile98Leu) n.3168A>C | |
| 16 | g.48224336C>A | CA395824845 | ABCC11 | c.489G>T (p.Leu163Phe) n.887G>T c.291G>T (p.Leu97Phe) n.3167G>T | COSMIC |
| 16 | g.48224336C>G | CA395824846 | ABCC11 | c.489G>C (p.Leu163Phe) n.887G>C c.291G>C (p.Leu97Phe) n.3167G>C | gnomAD v4 COSMIC |
| 16 | g.48224336C>T | CA495128996 | ABCC11 | c.489G>A (p.Leu163=) n.887G>A c.291G>A (p.Leu97=) n.3167G>A | |
| 16 | g.48224337A>C | CA395824847 | ABCC11 | c.488T>G (p.Leu163Trp) n.886T>G c.290T>G (p.Leu97Trp) n.3166T>G | |
| 16 | g.48224337A>G | CA395824848 | ABCC11 | c.488T>C (p.Leu163Ser) n.886T>C c.290T>C (p.Leu97Ser) n.3166T>C | COSMIC |
| 16 | g.48224337A>T | CA395824849 | ABCC11 | c.488T>A (p.Leu163Ter) n.886T>A c.290T>A (p.Leu97Ter) n.3166T>A | |
| 16 | g.48224338A= | CA2220718328 | ABCC11 | c.487T= (p.Leu163=) n.885T= c.289T= (p.Leu97=) n.3165T= | |
| 16 | g.48224338A>C | CA395824850 | ABCC11 | c.487T>G (p.Leu163Val) n.885T>G c.289T>G (p.Leu97Val) n.3165T>G | |
| 16 | g.48224338A>G | CA280264475 | ABCC11 | c.487T>C (p.Leu163=) n.885T>C c.289T>C (p.Leu97=) n.3165T>C | dbSNP |
| 16 | g.48224338A>T | CA395824851 | ABCC11 | c.487T>A (p.Leu163Met) n.885T>A c.289T>A (p.Leu97Met) n.3165T>A | |
| 16 | g.48224338_48224339delinsAC | CA2220718323 | ABCC11 | c.486_487delinsGT (p.Arg162=) n.884_885delinsGT c.288_289delinsGT (p.Arg96=) n.3164_3165delinsGT | |
| 16 | g.48224339C>A | CA395824852 | ABCC11 | c.486G>T (p.Arg162Ser) n.884G>T c.288G>T (p.Arg96Ser) n.3164G>T | |
| 16 | g.48224339C>G | CA395824853 | ABCC11 | c.486G>C (p.Arg162Ser) n.884G>C c.288G>C (p.Arg96Ser) n.3164G>C | |
| 16 | g.48224339C>T | CA495128997 | ABCC11 | c.486G>A (p.Arg162=) n.884G>A c.288G>A (p.Arg96=) n.3164G>A | |
| 16 | g.48224340del | CA8044179 | ABCC11 | c.486del (p.Arg162SerfsTer2) n.884del c.288del (p.Arg96SerfsTer2) n.3164del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224340C>A | CA395824854 | ABCC11 | c.485G>T (p.Arg162Met) n.883G>T c.287G>T (p.Arg96Met) n.3163G>T | |
| 16 | g.48224340C= | CA2220718335 | ABCC11 | c.485G= (p.Arg162=) n.883G= c.287G= (p.Arg96=) n.3163G= | |
| 16 | g.48224340C>G | CA395824855 | ABCC11 | c.485G>C (p.Arg162Thr) n.883G>C c.287G>C (p.Arg96Thr) n.3163G>C | |
| 16 | g.48224340C>T | CA280264481 | ABCC11 | c.485G>A (p.Arg162Lys) n.883G>A c.287G>A (p.Arg96Lys) n.3163G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224341T>A | CA395824856 | ABCC11 | c.484A>T (p.Arg162Trp) n.882A>T c.286A>T (p.Arg96Trp) n.3162A>T | |
| 16 | g.48224341T>C | CA395824857 | ABCC11 | c.484A>G (p.Arg162Gly) n.882A>G c.286A>G (p.Arg96Gly) n.3162A>G | |
| 16 | g.48224341T>G | CA495128998 | ABCC11 | c.484A>C (p.Arg162=) n.882A>C c.286A>C (p.Arg96=) n.3162A>C | |
| 16 | g.48224342T>A | CA495128999 | ABCC11 | c.483A>T (p.Thr161=) n.881A>T c.285A>T (p.Thr95=) n.3161A>T | |
| 16 | g.48224342T>C | CA495129000 | ABCC11 | c.483A>G (p.Thr161=) n.881A>G c.285A>G (p.Thr95=) n.3161A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224342T>G | CA495129001 | ABCC11 | c.483A>C (p.Thr161=) n.881A>C c.285A>C (p.Thr95=) n.3161A>C | |
| 16 | g.48224342T= | CA2220718371 | ABCC11 | c.483A= (p.Thr161=) n.881A= c.285A= (p.Thr95=) n.3161A= | |
| 16 | g.48224343G>A | CA395824858 | ABCC11 | c.482C>T (p.Thr161Ile) n.880C>T c.284C>T (p.Thr95Ile) n.3160C>T | |
| 16 | g.48224343G>C | CA395824859 | ABCC11 | c.482C>G (p.Thr161Arg) n.880C>G c.284C>G (p.Thr95Arg) n.3160C>G | |
| 16 | g.48224343G= | CA2220718393 | ABCC11 | c.482C= (p.Thr161=) n.880C= c.284C= (p.Thr95=) n.3160C= | |
| 16 | g.48224343G>T | CA8044180 | ABCC11 | c.482C>A (p.Thr161Lys) n.880C>A c.284C>A (p.Thr95Lys) n.3160C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224344T>A | CA395824860 | ABCC11 | c.481A>T (p.Thr161Ser) n.879A>T c.283A>T (p.Thr95Ser) n.3159A>T | |
| 16 | g.48224344T>C | CA8044181 | ABCC11 | c.481A>G (p.Thr161Ala) n.879A>G c.283A>G (p.Thr95Ala) n.3159A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224344T>G | CA395824861 | ABCC11 | c.481A>C (p.Thr161Pro) n.879A>C c.283A>C (p.Thr95Pro) n.3159A>C | |
| 16 | g.48224344T= | CA2220718398 | ABCC11 | c.481A= (p.Thr161=) n.879A= c.283A= (p.Thr95=) n.3159A= | |
| 16 | g.48224345T>A | CA395824862 | ABCC11 | c.480A>T (p.Arg160Ser) n.878A>T c.282A>T (p.Arg94Ser) n.3158A>T | |
| 16 | g.48224345T>C | CA495129002 | ABCC11 | c.480A>G (p.Arg160=) n.878A>G c.282A>G (p.Arg94=) n.3158A>G | |
| 16 | g.48224345T>G | CA395824863 | ABCC11 | c.480A>C (p.Arg160Ser) n.878A>C c.282A>C (p.Arg94Ser) n.3158A>C | |
| 16 | g.48224346C>A | CA395824864 | ABCC11 | c.479G>T (p.Arg160Ile) n.877G>T c.281G>T (p.Arg94Ile) n.3157G>T | |
| 16 | g.48224346C>G | CA395824865 | ABCC11 | c.479G>C (p.Arg160Thr) n.877G>C c.281G>C (p.Arg94Thr) n.3157G>C | |
| 16 | g.48224346C>T | CA395824866 | ABCC11 | c.479G>A (p.Arg160Lys) n.877G>A c.281G>A (p.Arg94Lys) n.3157G>A | gnomAD v4 |
| 16 | g.48224347T>A | CA395824867 | ABCC11 | c.478A>T (p.Arg160Ter) n.876A>T c.280A>T (p.Arg94Ter) n.3156A>T | |
| 16 | g.48224347T>C | CA395824868 | ABCC11 | c.478A>G (p.Arg160Gly) n.876A>G c.280A>G (p.Arg94Gly) n.3156A>G | |
| 16 | g.48224347T>G | CA495129003 | ABCC11 | c.478A>C (p.Arg160=) n.876A>C c.280A>C (p.Arg94=) n.3156A>C | |
| 16 | g.48224348C>A | CA395824869 | ABCC11 | c.477G>T (p.Gln159His) n.875G>T c.279G>T (p.Gln93His) n.3155G>T | |
| 16 | g.48224348C>G | CA395824870 | ABCC11 | c.477G>C (p.Gln159His) n.875G>C c.279G>C (p.Gln93His) n.3155G>C | |
| 16 | g.48224348C>T | CA495129004 | ABCC11 | c.477G>A (p.Gln159=) n.875G>A c.279G>A (p.Gln93=) n.3155G>A | |
| 16 | g.48224349T>A | CA395824871 | ABCC11 | c.476A>T (p.Gln159Leu) n.874A>T c.278A>T (p.Gln93Leu) n.3154A>T | |
| 16 | g.48224349T>C | CA8044182 | ABCC11 | c.476A>G (p.Gln159Arg) n.874A>G c.278A>G (p.Gln93Arg) n.3154A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.48224349T>G | CA395824872 | ABCC11 | c.476A>C (p.Gln159Pro) n.874A>C c.278A>C (p.Gln93Pro) n.3154A>C | |
| 16 | g.48224349T= | CA2220718414 | ABCC11 | c.476A= (p.Gln159=) n.874A= c.278A= (p.Gln93=) n.3154A= | |
| 16 | g.48224349_48224350delinsTG | CA2220718407 | ABCC11 | c.475_476delinsCA (p.Gln159=) n.873_874delinsCA c.277_278delinsCA (p.Gln93=) n.3153_3154delinsCA | |
| 16 | g.48224350G>A | CA395824873 | ABCC11 | c.475C>T (p.Gln159Ter) n.873C>T c.277C>T (p.Gln93Ter) n.3153C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.48224350G>C | CA395824874 | ABCC11 | c.475C>G (p.Gln159Glu) n.873C>G c.277C>G (p.Gln93Glu) n.3153C>G | |
| 16 | g.48224350G= | CA2220718423 | ABCC11 | c.475C= (p.Gln159=) n.873C= c.277C= (p.Gln93=) n.3153C= | |
| 16 | g.48224350G>T | CA395824875 | ABCC11 | c.475C>A (p.Gln159Lys) n.873C>A c.277C>A (p.Gln93Lys) n.3153C>A | |
| 16 | g.48224351del | CA8044183 | ABCC11 | c.475del (p.Gln159ArgfsTer5) n.873del c.475del (p.Gln159=) c.277del (p.Gln93ArgfsTer5) n.3153del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224351G>A | CA8044184 | ABCC11 | c.474C>T (p.Phe158=) n.872C>T c.276C>T (p.Phe92=) n.3152C>T | dbSNP ExAC gnomAD v2 |
| 16 | g.48224351G>C | CA395824876 | ABCC11 | c.474C>G (p.Phe158Leu) n.872C>G c.276C>G (p.Phe92Leu) n.3152C>G | gnomAD v4 |
| 16 | g.48224351G= | CA2220718433 | ABCC11 | c.474C= (p.Phe158=) n.872C= c.276C= (p.Phe92=) n.3152C= | |
| 16 | g.48224351G>T | CA8044185 | ABCC11 | c.474C>A (p.Phe158Leu) n.872C>A c.276C>A (p.Phe92Leu) n.3152C>A | dbSNP ExAC gnomAD v2 |
| 16 | g.48224352A>C | CA395824878 | ABCC11 | c.473T>G (p.Phe158Cys) n.871T>G c.275T>G (p.Phe92Cys) n.3151T>G | |
| 16 | g.48224352A>G | CA395824879 | ABCC11 | c.473T>C (p.Phe158Ser) n.871T>C c.275T>C (p.Phe92Ser) n.3151T>C | |
| 16 | g.48224352A>T | CA395824877 | ABCC11 | c.473T>A (p.Phe158Tyr) n.871T>A c.275T>A (p.Phe92Tyr) n.3151T>A | |
| 16 | g.48224353A>C | CA395824882 | ABCC11 | c.472T>G (p.Phe158Val) n.870T>G c.274T>G (p.Phe92Val) n.3150T>G | |
| 16 | g.48224353A>G | CA395824880 | ABCC11 | c.472T>C (p.Phe158Leu) n.870T>C c.274T>C (p.Phe92Leu) n.3150T>C | |
| 16 | g.48224353A>T | CA395824881 | ABCC11 | c.472T>A (p.Phe158Ile) n.870T>A c.274T>A (p.Phe92Ile) n.3150T>A | |
| 16 | g.48224354C>A | CA395824883 | ABCC11 | c.471G>T (p.Arg157Ser) n.869G>T c.273G>T (p.Arg91Ser) n.3149G>T | |
| 16 | g.48224354C>G | CA395824884 | ABCC11 | c.471G>C (p.Arg157Ser) n.869G>C c.273G>C (p.Arg91Ser) n.3149G>C | |
| 16 | g.48224354C>T | CA495129005 | ABCC11 | c.471G>A (p.Arg157=) n.869G>A c.273G>A (p.Arg91=) n.3149G>A | |
| 16 | g.48224355C>A | CA395824885 | ABCC11 | c.470G>T (p.Arg157Met) n.868G>T c.272G>T (p.Arg91Met) n.3148G>T | dbSNP |
| 16 | g.48224355C>G | CA395824886 | ABCC11 | c.470G>C (p.Arg157Thr) n.868G>C c.272G>C (p.Arg91Thr) n.3148G>C | |
| 16 | g.48224355C>T | CA395824887 | ABCC11 | c.470G>A (p.Arg157Lys) n.868G>A c.272G>A (p.Arg91Lys) n.3148G>A | |
| 16 | g.48224356T>A | CA395824888 | ABCC11 | c.469A>T (p.Arg157Trp) n.867A>T c.271A>T (p.Arg91Trp) n.3147A>T | dbSNP |
| 16 | g.48224356T>C | CA395824889 | ABCC11 | c.469A>G (p.Arg157Gly) n.867A>G c.271A>G (p.Arg91Gly) n.3147A>G | |
| 16 | g.48224356T>G | CA495129006 | ABCC11 | c.469A>C (p.Arg157=) n.867A>C c.271A>C (p.Arg91=) n.3147A>C | |
| 16 | g.48224357C>A | CA495129007 | ABCC11 | c.468G>T (p.Leu156=) n.866G>T c.270G>T (p.Leu90=) n.3146G>T | |
| 16 | g.48224357C>G | CA495129008 | ABCC11 | c.468G>C (p.Leu156=) n.866G>C c.270G>C (p.Leu90=) n.3146G>C | |
| 16 | g.48224357C>T | CA495129009 | ABCC11 | c.468G>A (p.Leu156=) n.866G>A c.270G>A (p.Leu90=) n.3146G>A | |
| 16 | g.48224358A>C | CA395824890 | ABCC11 | c.467T>G (p.Leu156Arg) n.865T>G c.269T>G (p.Leu90Arg) n.3145T>G | |
| 16 | g.48224358A>G | CA395824891 | ABCC11 | c.467T>C (p.Leu156Pro) n.865T>C c.269T>C (p.Leu90Pro) n.3145T>C | |
| 16 | g.48224358A>T | CA395824892 | ABCC11 | c.467T>A (p.Leu156Gln) n.865T>A c.269T>A (p.Leu90Gln) n.3145T>A | |
| 16 | g.48224359G>A | CA495129010 | ABCC11 | c.466C>T (p.Leu156=) n.864C>T c.268C>T (p.Leu90=) n.3144C>T | dbSNP |
| 16 | g.48224359G>C | CA395824894 | ABCC11 | c.466C>G (p.Leu156Val) n.864C>G c.268C>G (p.Leu90Val) n.3144C>G | |
| 16 | g.48224359G>T | CA395824893 | ABCC11 | c.466C>A (p.Leu156Met) n.864C>A c.268C>A (p.Leu90Met) n.3144C>A | |
| 16 | g.48224360C>A | CA395824895 | ABCC11 | c.465G>T (p.Met155Ile) n.863G>T c.267G>T (p.Met89Ile) n.3143G>T | COSMIC |
| 16 | g.48224360C>G | CA395824896 | ABCC11 | c.465G>C (p.Met155Ile) n.863G>C c.267G>C (p.Met89Ile) n.3143G>C | |
| 16 | g.48224360C>T | CA395824897 | ABCC11 | c.465G>A (p.Met155Ile) n.863G>A c.267G>A (p.Met89Ile) n.3143G>A | |
| 16 | g.48224361A>C | CA395824898 | ABCC11 | c.464T>G (p.Met155Arg) n.862T>G c.266T>G (p.Met89Arg) n.3142T>G | |
| 16 | g.48224361A>G | CA395824899 | ABCC11 | c.464T>C (p.Met155Thr) n.862T>C c.266T>C (p.Met89Thr) n.3142T>C | dbSNP gnomAD v4 |
| 16 | g.48224361A>T | CA395824900 | ABCC11 | c.464T>A (p.Met155Lys) n.862T>A c.266T>A (p.Met89Lys) n.3142T>A | |
| 16 | g.48224362T>A | CA395824901 | ABCC11 | c.463A>T (p.Met155Leu) n.861A>T c.265A>T (p.Met89Leu) n.3141A>T | |
| 16 | g.48224362T>C | CA395824902 | ABCC11 | c.463A>G (p.Met155Val) n.861A>G c.265A>G (p.Met89Val) n.3141A>G | |
| 16 | g.48224362T>G | CA395824903 | ABCC11 | c.463A>C (p.Met155Leu) n.861A>C c.265A>C (p.Met89Leu) n.3141A>C | |
| 16 | g.48224363C>A | CA495129011 | ABCC11 | c.462G>T (p.Val154=) n.860G>T c.264G>T (p.Val88=) n.3140G>T | |
| 16 | g.48224363C= | CA2220718438 | ABCC11 | c.462G= (p.Val154=) n.860G= c.264G= (p.Val88=) n.3140G= | |
| 16 | g.48224363C>G | CA495129012 | ABCC11 | c.462G>C (p.Val154=) n.860G>C c.264G>C (p.Val88=) n.3140G>C | |
| 16 | g.48224363C>T | CA495129013 | ABCC11 | c.462G>A (p.Val154=) n.860G>A c.264G>A (p.Val88=) n.3140G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.48224364A>C | CA395824904 | ABCC11 | c.461T>G (p.Val154Gly) n.859T>G c.263T>G (p.Val88Gly) n.3139T>G | |
| 16 | g.48224364A>G | CA395824905 | ABCC11 | c.461T>C (p.Val154Ala) n.859T>C c.263T>C (p.Val88Ala) n.3139T>C | |
| 16 | g.48224364A>T | CA395824906 | ABCC11 | c.461T>A (p.Val154Glu) n.859T>A c.263T>A (p.Val88Glu) n.3139T>A | |
| 16 | g.48224365C>A | CA395824908 | ABCC11 | c.460G>T (p.Val154Leu) n.858G>T c.262G>T (p.Val88Leu) n.3138G>T | |
| 16 | g.48224365C>G | CA395824909 | ABCC11 | c.460G>C (p.Val154Leu) n.858G>C c.262G>C (p.Val88Leu) n.3138G>C | gnomAD v4 |
| 16 | g.48224365C>T | CA395824907 | ABCC11 | c.460G>A (p.Val154Met) n.858G>A c.262G>A (p.Val88Met) n.3138G>A | |
| 16 | g.48224366C>A | CA495129014 | ABCC11 | c.459G>T (p.Leu153=) n.857G>T c.261G>T (p.Leu87=) n.3137G>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.48224366C= | CA2220718445 | ABCC11 | c.459G= (p.Leu153=) n.857G= c.261G= (p.Leu87=) n.3137G= | |
| 16 | g.48224366C>G | CA495129016 | ABCC11 | c.459G>C (p.Leu153=) n.857G>C c.261G>C (p.Leu87=) n.3137G>C | gnomAD v4 |
| 16 | g.48224366C>T | CA495129015 | ABCC11 | c.459G>A (p.Leu153=) n.857G>A c.261G>A (p.Leu87=) n.3137G>A | |
| 16 | g.48224367A>C | CA395824910 | ABCC11 | c.458T>G (p.Leu153Arg) n.856T>G c.260T>G (p.Leu87Arg) n.3136T>G | |
| 16 | g.48224367A>G | CA395824911 | ABCC11 | c.458T>C (p.Leu153Pro) n.856T>C c.260T>C (p.Leu87Pro) n.3136T>C | |
| 16 | g.48224367A>T | CA395824912 | ABCC11 | c.458T>A (p.Leu153Gln) n.856T>A c.260T>A (p.Leu87Gln) n.3136T>A | |
| 16 | g.48224368G>A | CA495129018 | ABCC11 | c.457C>T (p.Leu153=) n.855C>T c.259C>T (p.Leu87=) n.3135C>T | |
| 16 | g.48224368G>C | CA395824913 | ABCC11 | c.457C>G (p.Leu153Val) n.855C>G c.259C>G (p.Leu87Val) n.3135C>G | dbSNP |
| 16 | g.48224368G>T | CA395824914 | ABCC11 | c.457C>A (p.Leu153Met) n.855C>A c.259C>A (p.Leu87Met) n.3135C>A | |
| 16 | g.48224369A>C | CA495129019 | ABCC11 | c.456T>G (p.Leu152=) n.854T>G c.258T>G (p.Leu86=) n.3134T>G | |
| 16 | g.48224369A>G | CA495129020 | ABCC11 | c.456T>C (p.Leu152=) n.854T>C c.258T>C (p.Leu86=) n.3134T>C | |
| 16 | g.48224369A>T | CA495129021 | ABCC11 | c.456T>A (p.Leu152=) n.854T>A c.258T>A (p.Leu86=) n.3134T>A | |
| 16 | g.48224370A>C | CA395824917 | ABCC11 | c.455T>G (p.Leu152Arg) n.853T>G c.257T>G (p.Leu86Arg) n.3133T>G | |
| 16 | g.48224370A>G | CA395824916 | ABCC11 | c.455T>C (p.Leu152Pro) n.853T>C c.257T>C (p.Leu86Pro) n.3133T>C | |
| 16 | g.48224370A>T | CA395824915 | ABCC11 | c.455T>A (p.Leu152His) n.853T>A c.257T>A (p.Leu86His) n.3133T>A | |
| 16 | g.48224371G>A | CA395824918 | ABCC11 | c.454C>T (p.Leu152Phe) n.852C>T c.256C>T (p.Leu86Phe) n.3132C>T | dbSNP |
| 16 | g.48224371G>C | CA395824919 | ABCC11 | c.454C>G (p.Leu152Val) n.852C>G c.256C>G (p.Leu86Val) n.3132C>G | dbSNP |
| 16 | g.48224371G>T | CA395824920 | ABCC11 | c.454C>A (p.Leu152Ile) n.852C>A c.256C>A (p.Leu86Ile) n.3132C>A | |
| 16 | g.48224372C>A | CA495129022 | ABCC11 | c.453G>T (p.Val151=) n.851G>T c.255G>T (p.Val85=) n.3131G>T | |
| 16 | g.48224372C>G | CA495129024 | ABCC11 | c.453G>C (p.Val151=) n.851G>C c.255G>C (p.Val85=) n.3131G>C | |
| 16 | g.48224372C>T | CA495129023 | ABCC11 | c.453G>A (p.Val151=) n.851G>A c.255G>A (p.Val85=) n.3131G>A | dbSNP |
| 16 | g.48224373A>C | CA395824921 | ABCC11 | c.452T>G (p.Val151Gly) n.850T>G c.254T>G (p.Val85Gly) n.3130T>G | gnomAD v4 |
| 16 | g.48224373A>G | CA395824922 | ABCC11 | c.452T>C (p.Val151Ala) n.850T>C c.254T>C (p.Val85Ala) n.3130T>C | |
| 16 | g.48224373A>T | CA395824923 | ABCC11 | c.452T>A (p.Val151Glu) n.850T>A c.254T>A (p.Val85Glu) n.3130T>A | |
| 16 | g.48224374C>A | CA395824924 | ABCC11 | c.451G>T (p.Val151Leu) n.849G>T c.253G>T (p.Val85Leu) n.3129G>T | |
| 16 | g.48224374C= | CA2220718451 | ABCC11 | c.451G= (p.Val151=) n.849G= c.253G= (p.Val85=) n.3129G= | |
| 16 | g.48224374C>G | CA395824926 | ABCC11 | c.451G>C (p.Val151Leu) n.849G>C c.253G>C (p.Val85Leu) n.3129G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.48224374C>T | CA395824925 | ABCC11 | c.451G>A (p.Val151Met) n.849G>A c.253G>A (p.Val85Met) n.3129G>A | |
| 16 | g.48224375T>A | CA495129025 | ABCC11 | c.450A>T (p.Ser150=) n.848A>T c.252A>T (p.Ser84=) n.3128A>T | |
| 16 | g.48224375T>C | CA495129026 | ABCC11 | c.450A>G (p.Ser150=) n.848A>G c.252A>G (p.Ser84=) n.3128A>G | dbSNP |
| 16 | g.48224375T>G | CA495129027 | ABCC11 | c.450A>C (p.Ser150=) n.848A>C c.252A>C (p.Ser84=) n.3128A>C | |
| 16 | g.48224375T= | CA2220718457 | ABCC11 | c.450A= (p.Ser150=) n.848A= c.252A= (p.Ser84=) n.3128A= | |
| 16 | g.48224376G>A | CA395824927 | ABCC11 | c.449C>T (p.Ser150Leu) n.847C>T c.251C>T (p.Ser84Leu) n.3127C>T | |
| 16 | g.48224376G>C | CA395824928 | ABCC11 | c.449C>G (p.Ser150Ter) n.847C>G c.251C>G (p.Ser84Ter) n.3127C>G | |
| 16 | g.48224376G>T | CA395824929 | ABCC11 | c.449C>A (p.Ser150Ter) n.847C>A c.251C>A (p.Ser84Ter) n.3127C>A | |
| 16 | g.48224377A>C | CA395824930 | ABCC11 | c.448T>G (p.Ser150Ala) n.846T>G c.250T>G (p.Ser84Ala) n.3126T>G | |
| 16 | g.48224377A>G | CA395824931 | ABCC11 | c.448T>C (p.Ser150Pro) n.846T>C c.250T>C (p.Ser84Pro) n.3126T>C | |
| 16 | g.48224377A>T | CA395824932 | ABCC11 | c.448T>A (p.Ser150Thr) n.846T>A c.250T>A (p.Ser84Thr) n.3126T>A | |
| 16 | g.48224378A= | CA2220718466 | ABCC11 | c.447T= (p.Ala149=) n.845T= c.249T= (p.Ala83=) n.3125T= | |
| 16 | g.48224378A>C | CA8044186 | ABCC11 | c.447T>G (p.Ala149=) n.845T>G c.249T>G (p.Ala83=) n.3125T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.48224378A>G | CA495129028 | ABCC11 | c.447T>C (p.Ala149=) n.845T>C c.249T>C (p.Ala83=) n.3125T>C | gnomAD v4 |
| 16 | g.48224378A>T | CA495129029 | ABCC11 | c.447T>A (p.Ala149=) n.845T>A c.249T>A (p.Ala83=) n.3125T>A | |
| 16 | g.48224379G>A | CA395824933 | ABCC11 | c.446C>T (p.Ala149Val) n.844C>T c.248C>T (p.Ala83Val) n.3124C>T | gnomAD v4 |
| 16 | g.48224379G>C | CA395824934 | ABCC11 | c.446C>G (p.Ala149Gly) n.844C>G c.248C>G (p.Ala83Gly) n.3124C>G | dbSNP |
| 16 | g.48224379G>T | CA395824935 | ABCC11 | c.446C>A (p.Ala149Asp) n.844C>A c.248C>A (p.Ala83Asp) n.3124C>A | |
| 16 | g.48224380del | CA2633067837 | ABCC11 | c.445del (p.Ala149LeufsTer6) n.843del c.247del (p.Ala83LeufsTer6) n.3123del | gnomAD v4 |
| 16 | g.48224380C>A | CA395824936 | ABCC11 | c.445G>T (p.Ala149Ser) n.843G>T c.247G>T (p.Ala83Ser) n.3123G>T | |
| 16 | g.48224380C>G | CA395824937 | ABCC11 | c.445G>C (p.Ala149Pro) n.843G>C c.247G>C (p.Ala83Pro) n.3123G>C | gnomAD v4 |
| 16 | g.48224380C>T | CA395824938 | ABCC11 | c.445G>A (p.Ala149Thr) n.843G>A c.247G>A (p.Ala83Thr) n.3123G>A | |
| 16 | g.48224380_48224382dup | CA2633067836 | ABCC11 | c.443_445dup (p.Lys148_Ala149insGlu) n.841_843dup c.245_247dup (p.Lys82_Ala83insGlu) n.3121_3123dup | gnomAD v4 |
| 16 | g.48224381T>A | CA395824940 | ABCC11 | c.444A>T (p.Lys148Asn) n.842A>T c.246A>T (p.Lys82Asn) n.3122A>T | |
| 16 | g.48224381T>C | CA495129030 | ABCC11 | c.444A>G (p.Lys148=) n.842A>G c.246A>G (p.Lys82=) n.3122A>G | |
| 16 | g.48224381T>G | CA395824939 | ABCC11 | c.444A>C (p.Lys148Asn) n.842A>C c.246A>C (p.Lys82Asn) n.3122A>C | |
| 16 | g.48224385del | CA2732497567 | ABCC11 | c.444del (p.Ala149LeufsTer6) n.842del c.246del (p.Ala83LeufsTer6) n.3122del | dbSNP |
| 16 | g.48224382T>A | CA395824941 | ABCC11 | c.443A>T (p.Lys148Ile) n.841A>T c.245A>T (p.Lys82Ile) n.3121A>T | |
| 16 | g.48224382T>C | CA395824943 | ABCC11 | c.443A>G (p.Lys148Arg) n.841A>G c.245A>G (p.Lys82Arg) n.3121A>G | |
| 16 | g.48224382T>G | CA395824942 | ABCC11 | c.443A>C (p.Lys148Thr) n.841A>C c.245A>C (p.Lys82Thr) n.3121A>C | |
| 16 | g.48224383T>A | CA395824944 | ABCC11 | c.442A>T (p.Lys148Ter) n.840A>T c.244A>T (p.Lys82Ter) n.3120A>T | |
| 16 | g.48224383T>C | CA395824946 | ABCC11 | c.442A>G (p.Lys148Glu) n.840A>G c.244A>G (p.Lys82Glu) n.3120A>G | |
| 16 | g.48224383T>G | CA395824945 | ABCC11 | c.442A>C (p.Lys148Gln) n.840A>C c.244A>C (p.Lys82Gln) n.3120A>C | |
| 16 | g.48224384T>A | CA395824947 | ABCC11 | c.441A>T (p.Glu147Asp) n.839A>T c.243A>T (p.Glu81Asp) n.3119A>T | |
| 16 | g.48224384T>C | CA495129031 | ABCC11 | c.441A>G (p.Glu147=) n.839A>G c.243A>G (p.Glu81=) n.3119A>G | |
| 16 | g.48224384T>G | CA395824948 | ABCC11 | c.441A>C (p.Glu147Asp) n.839A>C c.243A>C (p.Glu81Asp) n.3119A>C | |
| 16 | g.48224385T>A | CA395824949 | ABCC11 | c.440A>T (p.Glu147Val) n.838A>T c.242A>T (p.Glu81Val) n.3118A>T | |
| 16 | g.48224385T>C | CA395824951 | ABCC11 | c.440A>G (p.Glu147Gly) n.838A>G c.242A>G (p.Glu81Gly) n.3118A>G | |
| 16 | g.48224385T>G | CA395824950 | ABCC11 | c.440A>C (p.Glu147Ala) n.838A>C c.242A>C (p.Glu81Ala) n.3118A>C | |
| 16 | g.48224386C>A | CA395824952 | ABCC11 | c.439G>T (p.Glu147Ter) n.837G>T c.241G>T (p.Glu81Ter) n.3117G>T | |
| 16 | g.48224386C>G | CA395824953 | ABCC11 | c.439G>C (p.Glu147Gln) n.837G>C c.241G>C (p.Glu81Gln) n.3117G>C | |
| 16 | g.48224386C>T | CA395824954 | ABCC11 | c.439G>A (p.Glu147Lys) n.837G>A c.241G>A (p.Glu81Lys) n.3117G>A | |
| 16 | g.48224387A>C | CA395824955 | ABCC11 | c.438T>G (p.Ile146Met) n.836T>G c.240T>G (p.Ile80Met) n.3116T>G | |
| 16 | g.48224387A>G | CA495129032 | ABCC11 | c.438T>C (p.Ile146=) n.836T>C c.240T>C (p.Ile80=) n.3116T>C | |
| 16 | g.48224387A>T | CA495129033 | ABCC11 | c.438T>A (p.Ile146=) n.836T>A c.240T>A (p.Ile80=) n.3116T>A | gnomAD v4 |
| 16 | g.48224388A= | CA2220718476 | ABCC11 | c.437T= (p.Ile146=) n.835T= c.239T= (p.Ile80=) n.3115T= | |
| 16 | g.48224388A>C | CA395824956 | ABCC11 | c.437T>G (p.Ile146Ser) n.835T>G c.239T>G (p.Ile80Ser) n.3115T>G | |
| 16 | g.48224388A>G | CA8044187 | ABCC11 | c.437T>C (p.Ile146Thr) n.835T>C c.239T>C (p.Ile80Thr) n.3115T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.48224388A>T | CA395824957 | ABCC11 | c.437T>A (p.Ile146Asn) n.835T>A c.239T>A (p.Ile80Asn) n.3115T>A | |
| 16 | g.48224388_48224392delinsATCCC | CA2220718484 | ABCC11 | c.433_437delinsGGGAT (p.Gly145=) n.831_835delinsGGGAT c.235_239delinsGGGAT (p.Gly79=) n.3111_3115delinsGGGAT | |
| 16 | g.48224389T>A | CA395824958 | ABCC11 | c.436A>T (p.Ile146Phe) n.834A>T c.238A>T (p.Ile80Phe) n.3114A>T | |
| 16 | g.48224389T>C | CA395824959 | ABCC11 | c.436A>G (p.Ile146Val) n.834A>G c.238A>G (p.Ile80Val) n.3114A>G | |
| 16 | g.48224389T>G | CA395824960 | ABCC11 | c.436A>C (p.Ile146Leu) n.834A>C c.238A>C (p.Ile80Leu) n.3114A>C | dbSNP |
| 16 | g.48224389T= | CA2220718490 | ABCC11 | c.436A= (p.Ile146=) n.834A= c.238A= (p.Ile80=) n.3114A= | |
| 16 | g.48224391_48224394del | CA721148428 | ABCC11 | c.433_436del (p.Gly145LeufsTer9) n.831_834del c.235_238del (p.Gly79LeufsTer9) n.3111_3114del | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.48224390C>A | CA8044188 | ABCC11 | c.435G>T (p.Gly145=) n.833G>T c.237G>T (p.Gly79=) n.3113G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224390C= | CA2220718497 | ABCC11 | c.435G= (p.Gly145=) n.833G= c.237G= (p.Gly79=) n.3113G= | |
| 16 | g.48224390C>G | CA495129035 | ABCC11 | c.435G>C (p.Gly145=) n.833G>C c.237G>C (p.Gly79=) n.3113G>C | |
| 16 | g.48224390C>T | CA495129034 | ABCC11 | c.435G>A (p.Gly145=) n.833G>A c.237G>A (p.Gly79=) n.3113G>A | dbSNP |
| 16 | g.48224391C>A | CA395824961 | ABCC11 | c.434G>T (p.Gly145Val) n.832G>T c.236G>T (p.Gly79Val) n.3112G>T | |
| 16 | g.48224391C>G | CA395824963 | ABCC11 | c.434G>C (p.Gly145Ala) n.832G>C c.236G>C (p.Gly79Ala) n.3112G>C | |
| 16 | g.48224391C>T | CA395824962 | ABCC11 | c.434G>A (p.Gly145Glu) n.832G>A c.236G>A (p.Gly79Glu) n.3112G>A | |
| 16 | g.48224392C>A | CA395824964 | ABCC11 | c.433G>T (p.Gly145Trp) n.831G>T c.235G>T (p.Gly79Trp) n.3111G>T | dbSNP |
| 16 | g.48224392C>G | CA395824965 | ABCC11 | c.433G>C (p.Gly145Arg) n.831G>C c.235G>C (p.Gly79Arg) n.3111G>C | |
| 16 | g.48224392C>T | CA395824966 | ABCC11 | c.433G>A (p.Gly145Arg) n.831G>A c.235G>A (p.Gly79Arg) n.3111G>A | COSMIC |
| 16 | g.48224393T>A | CA495129036 | ABCC11 | c.432A>T (p.Arg144=) n.830A>T c.234A>T (p.Arg78=) n.3110A>T | |
| 16 | g.48224393T>C | CA495129037 | ABCC11 | c.432A>G (p.Arg144=) n.830A>G c.234A>G (p.Arg78=) n.3110A>G | |
| 16 | g.48224393T>G | CA8044189 | ABCC11 | c.432A>C (p.Arg144=) n.830A>C c.234A>C (p.Arg78=) n.3110A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.48224393T= | CA2220718504 | ABCC11 | c.432A= (p.Arg144=) n.830A= c.234A= (p.Arg78=) n.3110A= | |
| 16 | g.48224394C>A | CA395824967 | ABCC11 | c.431G>T (p.Arg144Leu) n.829G>T c.233G>T (p.Arg78Leu) n.3109G>T | |
| 16 | g.48224394C= | CA2220718506 | ABCC11 | c.431G= (p.Arg144=) n.829G= c.233G= (p.Arg78=) n.3109G= | |
| 16 | g.48224394C>G | CA395824968 | ABCC11 | c.431G>C (p.Arg144Pro) n.829G>C c.233G>C (p.Arg78Pro) n.3109G>C | |
| 16 | g.48224394C>T | CA8044190 | ABCC11 | c.431G>A (p.Arg144Gln) n.829G>A c.233G>A (p.Arg78Gln) n.3109G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224395G>A | CA8044191 | ABCC11 | c.430C>T (p.Arg144Ter) n.828C>T c.232C>T (p.Arg78Ter) n.3108C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.48224395G>C | CA395824969 | ABCC11 | c.430C>G (p.Arg144Gly) n.828C>G c.232C>G (p.Arg78Gly) n.3108C>G | dbSNP |
| 16 | g.48224395G= | CA2220718511 | ABCC11 | c.430C= (p.Arg144=) n.828C= c.232C= (p.Arg78=) n.3108C= | |
| 16 | g.48224395G>T | CA495129038 | ABCC11 | c.430C>A (p.Arg144=) n.828C>A c.232C>A (p.Arg78=) n.3108C>A | dbSNP |
| 16 | g.48224396C>A | CA8044193 | ABCC11 | c.429G>T (p.Arg143Ser) n.827G>T c.231G>T (p.Arg77Ser) n.3107G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.48224396C= | CA2220718524 | ABCC11 | c.429G= (p.Arg143=) n.827G= c.231G= (p.Arg77=) n.3107G= | |
| 16 | g.48224396C>G | CA395824970 | ABCC11 | c.429G>C (p.Arg143Ser) n.827G>C c.231G>C (p.Arg77Ser) n.3107G>C | |
| 16 | g.48224396C>T | CA8044192 | ABCC11 | c.429G>A (p.Arg143=) n.827G>A c.231G>A (p.Arg77=) n.3107G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48224397C>A | CA395824971 | ABCC11 | c.428G>T (p.Arg143Met) n.826G>T c.230G>T (p.Arg77Met) n.3106G>T | |
| 16 | g.48224397C>G | CA395824972 | ABCC11 | c.428G>C (p.Arg143Thr) n.826G>C c.230G>C (p.Arg77Thr) n.3106G>C | |
| 16 | g.48224397C>T | CA395824973 | ABCC11 | c.428G>A (p.Arg143Lys) n.826G>A c.230G>A (p.Arg77Lys) n.3106G>A | |
| 16 | g.48224398T>A | CA395824974 | ABCC11 | c.427A>T (p.Arg143Trp) n.825A>T c.229A>T (p.Arg77Trp) n.3105A>T | |
| 16 | g.48224398T>C | CA395824975 | ABCC11 | c.427A>G (p.Arg143Gly) n.825A>G c.229A>G (p.Arg77Gly) n.3105A>G | gnomAD v4 |
| 16 | g.48224398T>G | CA495129039 | ABCC11 | c.427A>C (p.Arg143=) n.825A>C c.229A>C (p.Arg77=) n.3105A>C | gnomAD v4 |
| 16 | g.48224399T>A | CA495129040 | ABCC11 | c.426A>T (p.Ser142=) n.824A>T c.228A>T (p.Ser76=) n.3104A>T | |
| 16 | g.48224399T>C | CA495129042 | ABCC11 | c.426A>G (p.Ser142=) n.824A>G c.228A>G (p.Ser76=) n.3104A>G | |
| 16 | g.48224399T>G | CA495129043 | ABCC11 | c.426A>C (p.Ser142=) n.824A>C c.228A>C (p.Ser76=) n.3104A>C | gnomAD v4 |
| 16 | g.48224400G>A | CA395824976 | ABCC11 | c.425C>T (p.Ser142Leu) n.823C>T c.227C>T (p.Ser76Leu) n.3103C>T | |
| 16 | g.48224400G>C | CA395824977 | ABCC11 | c.425C>G (p.Ser142Ter) n.823C>G c.227C>G (p.Ser76Ter) n.3103C>G | |
| 16 | g.48224400G>T | CA395824978 | ABCC11 | c.425C>A (p.Ser142Ter) n.823C>A c.227C>A (p.Ser76Ter) n.3103C>A | |
| 16 | g.48224401A>C | CA395824979 | ABCC11 | c.424T>G (p.Ser142Ala) n.822T>G c.226T>G (p.Ser76Ala) n.3102T>G | |
| 16 | g.48224401A>G | CA395824980 | ABCC11 | c.424T>C (p.Ser142Pro) n.822T>C c.226T>C (p.Ser76Pro) n.3102T>C | |
| 16 | g.48224401A>T | CA395824981 | ABCC11 | c.424T>A (p.Ser142Thr) n.822T>A c.226T>A (p.Ser76Thr) n.3102T>A | |
| 16 | g.48224402G>A | CA495129045 | ABCC11 | c.423C>T (p.Val141=) n.821C>T c.225C>T (p.Val75=) n.3101C>T | |
| 16 | g.48224402G>C | CA495129046 | ABCC11 | c.423C>G (p.Val141=) n.821C>G c.225C>G (p.Val75=) n.3101C>G | dbSNP |
| 16 | g.48224402G>T | CA495129047 | ABCC11 | c.423C>A (p.Val141=) n.821C>A c.225C>A (p.Val75=) n.3101C>A | |
| 16 | g.48224403A>C | CA395824983 | ABCC11 | c.422T>G (p.Val141Gly) n.820T>G c.224T>G (p.Val75Gly) n.3100T>G | |
| 16 | g.48224403A>G | CA395824984 | ABCC11 | c.422T>C (p.Val141Ala) n.820T>C c.224T>C (p.Val75Ala) n.3100T>C | |
| 16 | g.48224403A>T | CA395824982 | ABCC11 | c.422T>A (p.Val141Asp) n.820T>A c.224T>A (p.Val75Asp) n.3100T>A | dbSNP gnomAD v4 |
| 16 | g.48224403_48224406delinsACTT | CA2220718529 | ABCC11 | c.419_422delinsAAGT (p.Glu140=) n.817_820delinsAAGT c.221_224delinsAAGT (p.Glu74=) n.3097_3100delinsAAGT | |
| 16 | g.48224404C>A | CA395824985 | ABCC11 | c.421G>T (p.Val141Phe) n.819G>T c.223G>T (p.Val75Phe) n.3099G>T | dbSNP |
| 16 | g.48224404C= | CA2220718536 | ABCC11 | c.421G= (p.Val141=) n.819G= c.223G= (p.Val75=) n.3099G= | |
| 16 | g.48224404C>G | CA395824986 | ABCC11 | c.421G>C (p.Val141Leu) n.819G>C c.223G>C (p.Val75Leu) n.3099G>C | |
| 16 | g.48224404C>T | CA395824987 | ABCC11 | c.421G>A (p.Val141Ile) n.819G>A c.223G>A (p.Val75Ile) n.3099G>A | |
| 16 | g.48224411_48224413dup | CA2633067838 | ABCC11 | c.419_421dup (p.Glu140_Val141insGlu) n.817_819dup c.221_223dup (p.Glu74_Val75insGlu) n.3097_3099dup | gnomAD v4 |
| 16 | g.48224411_48224413del | CA8044194 | ABCC11 | c.419_421del (p.Glu140del) n.817_819del c.221_223del (p.Glu74del) n.3097_3099del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.48224405T>A | CA395824988 | ABCC11 | c.420A>T (p.Glu140Asp) n.818A>T c.222A>T (p.Glu74Asp) n.3098A>T | |
| 16 | g.48224405T>C | CA495129048 | ABCC11 | c.420A>G (p.Glu140=) n.818A>G c.222A>G (p.Glu74=) n.3098A>G | |
| 16 | g.48224405T>G | CA395824989 | ABCC11 | c.420A>C (p.Glu140Asp) n.818A>C c.222A>C (p.Glu74Asp) n.3098A>C | COSMIC |
| 16 | g.48224406T>A | CA395824990 | ABCC11 | c.419A>T (p.Glu140Val) n.817A>T c.221A>T (p.Glu74Val) n.3097A>T | |
| 16 | g.48224406T>C | CA395824992 | ABCC11 | c.419A>G (p.Glu140Gly) n.817A>G c.221A>G (p.Glu74Gly) n.3097A>G | |
| 16 | g.48224406T>G | CA395824991 | ABCC11 | c.419A>C (p.Glu140Ala) n.817A>C c.221A>C (p.Glu74Ala) n.3097A>C |