Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.190409850_190409851del | CA2577990837 | CLDN16 | c.575-53_575-52del (n.575-53_575-52del) c.115-53_115-52del (n.115-53_115-52del) c.785-53_785-52del (n.785-53_785-52del) c.325-53_325-52del (n.325-53_325-52del) | |
3 | g.190409849A>G | CA2669041858 | CLDN16 | c.575-54A>G (n.575-54A>G) c.115-54A>G (n.115-54A>G) c.785-54A>G (n.785-54A>G) c.325-54A>G (n.325-54A>G) | gnomAD v4 |
3 | g.190409849A>T | CA2669041859 | CLDN16 | c.575-54A>T (n.575-54A>T) c.115-54A>T (n.115-54A>T) c.785-54A>T (n.785-54A>T) c.325-54A>T (n.325-54A>T) | gnomAD v4 |
3 | g.190409851A>G | CA2669041860 | CLDN16 | c.575-52A>G (n.575-52A>G) c.115-52A>G (n.115-52A>G) c.785-52A>G (n.785-52A>G) c.325-52A>G (n.325-52A>G) | gnomAD v4 |
3 | g.190409852A>G | CA2669041861 | CLDN16 | c.575-51A>G (n.575-51A>G) c.115-51A>G (n.115-51A>G) c.785-51A>G (n.785-51A>G) c.325-51A>G (n.325-51A>G) | gnomAD v4 |
3 | g.190409853T>C | CA2669041862 | CLDN16 | c.575-50T>C (n.575-50T>C) c.115-50T>C (n.115-50T>C) c.785-50T>C (n.785-50T>C) c.325-50T>C (n.325-50T>C) | gnomAD v4 |
3 | g.190409857C= | CA1428764401 | CLDN16 | c.575-46C= (n.575-46C=) c.115-46C= (n.115-46C=) c.785-46C= (n.785-46C=) c.325-46C= (n.325-46C=) | |
3 | g.190409857C>T | CA1428764402 | CLDN16 | c.575-46C>T (n.575-46C>T) c.115-46C>T (n.115-46C>T) c.785-46C>T (n.785-46C>T) c.325-46C>T (n.325-46C>T) | dbSNP |
3 | g.190409859C= | CA1428764404 | CLDN16 | c.575-44C= (n.575-44C=) c.115-44C= (n.115-44C=) c.785-44C= (n.785-44C=) c.325-44C= (n.325-44C=) | |
3 | g.190409859C>T | CA548499397 | CLDN16 | c.575-44C>T (n.575-44C>T) c.115-44C>T (n.115-44C>T) c.785-44C>T (n.785-44C>T) c.325-44C>T (n.325-44C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409860A>G | CA2704857270 | CLDN16 | c.575-43A>G (n.575-43A>G) c.115-43A>G (n.115-43A>G) c.785-43A>G (n.785-43A>G) c.325-43A>G (n.325-43A>G) | dbSNP |
3 | g.190409861A= | CA1428764405 | CLDN16 | c.575-42A= (n.575-42A=) c.115-42A= (n.115-42A=) c.785-42A= (n.785-42A=) c.325-42A= (n.325-42A=) | |
3 | g.190409861A>C | CA548499407 | CLDN16 | c.575-42A>C (n.575-42A>C) c.115-42A>C (n.115-42A>C) c.785-42A>C (n.785-42A>C) c.325-42A>C (n.325-42A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409862G>A | CA1428764409 | CLDN16 | c.575-41G>A (n.575-41G>A) c.115-41G>A (n.115-41G>A) c.785-41G>A (n.785-41G>A) c.325-41G>A (n.325-41G>A) | dbSNP gnomAD v4 |
3 | g.190409862G>C | CA2669041863 | CLDN16 | c.575-41G>C (n.575-41G>C) c.115-41G>C (n.115-41G>C) c.785-41G>C (n.785-41G>C) c.325-41G>C (n.325-41G>C) | gnomAD v4 |
3 | g.190409862G= | CA1428764407 | CLDN16 | c.575-41G= (n.575-41G=) c.115-41G= (n.115-41G=) c.785-41G= (n.785-41G=) c.325-41G= (n.325-41G=) | |
3 | g.190409862G>T | CA1428764410 | CLDN16 | c.575-41G>T (n.575-41G>T) c.115-41G>T (n.115-41G>T) c.785-41G>T (n.785-41G>T) c.325-41G>T (n.325-41G>T) | dbSNP |
3 | g.190409863T>C | CA2669041864 | CLDN16 | c.575-40T>C (n.575-40T>C) c.115-40T>C (n.115-40T>C) c.785-40T>C (n.785-40T>C) c.325-40T>C (n.325-40T>C) | gnomAD v4 |
3 | g.190409863T>G | CA1428764412 | CLDN16 | c.575-40T>G (n.575-40T>G) c.115-40T>G (n.115-40T>G) c.785-40T>G (n.785-40T>G) c.325-40T>G (n.325-40T>G) | dbSNP |
3 | g.190409863T= | CA1428764411 | CLDN16 | c.575-40T= (n.575-40T=) c.115-40T= (n.115-40T=) c.785-40T= (n.785-40T=) c.325-40T= (n.325-40T=) | |
3 | g.190409864del | CA2577990838 | CLDN16 | c.575-39del (n.575-39del) c.115-39del (n.115-39del) c.785-39del (n.785-39del) c.325-39del (n.325-39del) | gnomAD v4 |
3 | g.190409865C>A | CA2669041865 | CLDN16 | c.575-38C>A (n.575-38C>A) c.115-38C>A (n.115-38C>A) c.785-38C>A (n.785-38C>A) c.325-38C>A (n.325-38C>A) | gnomAD v4 |
3 | g.190409867C= | CA1428764414 | CLDN16 | c.575-36C= (n.575-36C=) c.115-36C= (n.115-36C=) c.785-36C= (n.785-36C=) c.325-36C= (n.325-36C=) | |
3 | g.190409867C>T | CA2753906 | CLDN16 | c.575-36C>T (n.575-36C>T) c.115-36C>T (n.115-36C>T) c.785-36C>T (n.785-36C>T) c.325-36C>T (n.325-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409868T>A | CA2669041866 | CLDN16 | c.575-35T>A (n.575-35T>A) c.115-35T>A (n.115-35T>A) c.785-35T>A (n.785-35T>A) c.325-35T>A (n.325-35T>A) | gnomAD v4 |
3 | g.190409871G>A | CA548499410 | CLDN16 | c.575-32G>A (n.575-32G>A) c.115-32G>A (n.115-32G>A) c.785-32G>A (n.785-32G>A) c.325-32G>A (n.325-32G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190409871G>C | CA1057669750 | CLDN16 | c.575-32G>C (n.575-32G>C) c.115-32G>C (n.115-32G>C) c.785-32G>C (n.785-32G>C) c.325-32G>C (n.325-32G>C) | gnomAD v3 gnomAD v4 |
3 | g.190409871G= | CA1428764417 | CLDN16 | c.575-32G= (n.575-32G=) c.115-32G= (n.115-32G=) c.785-32G= (n.785-32G=) c.325-32G= (n.325-32G=) | |
3 | g.190409871G>T | CA2669041867 | CLDN16 | c.575-32G>T (n.575-32G>T) c.115-32G>T (n.115-32G>T) c.785-32G>T (n.785-32G>T) c.325-32G>T (n.325-32G>T) | gnomAD v4 |
3 | g.190409872T>A | CA2669041869 | CLDN16 | c.575-31T>A (n.575-31T>A) c.115-31T>A (n.115-31T>A) c.785-31T>A (n.785-31T>A) c.325-31T>A (n.325-31T>A) | gnomAD v4 |
3 | g.190409872T>C | CA2669041868 | CLDN16 | c.575-31T>C (n.575-31T>C) c.115-31T>C (n.115-31T>C) c.785-31T>C (n.785-31T>C) c.325-31T>C (n.325-31T>C) | gnomAD v4 |
3 | g.190409873T>C | CA548499412 | CLDN16 | c.575-30T>C (n.575-30T>C) c.115-30T>C (n.115-30T>C) c.785-30T>C (n.785-30T>C) c.325-30T>C (n.325-30T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190409873T= | CA1428764420 | CLDN16 | c.575-30T= (n.575-30T=) c.115-30T= (n.115-30T=) c.785-30T= (n.785-30T=) c.325-30T= (n.325-30T=) | |
3 | g.190409875T>C | CA2669041870 | CLDN16 | c.575-28T>C (n.575-28T>C) c.115-28T>C (n.115-28T>C) c.785-28T>C (n.785-28T>C) c.325-28T>C (n.325-28T>C) | gnomAD v4 |
3 | g.190409876A= | CA1428764424 | CLDN16 | c.575-27A= (n.575-27A=) c.115-27A= (n.115-27A=) c.785-27A= (n.785-27A=) c.325-27A= (n.325-27A=) | |
3 | g.190409876A>G | CA904292439 | CLDN16 | c.575-27A>G (n.575-27A>G) c.115-27A>G (n.115-27A>G) c.785-27A>G (n.785-27A>G) c.325-27A>G (n.325-27A>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.190409876_190409879delinsACTT | CA1428764422 | CLDN16 | c.575-27_575-24delinsACTT (n.575-27_575-24delinsACTT) c.115-27_115-24delinsACTT (n.115-27_115-24delinsACTT) c.785-27_785-24delinsACTT (n.785-27_785-24delinsACTT) c.325-27_325-24delinsACTT (n.325-27_325-24delinsACTT) | |
3 | g.190409877C= | CA1428764428 | CLDN16 | c.575-26C= (n.575-26C=) c.115-26C= (n.115-26C=) c.785-26C= (n.785-26C=) c.325-26C= (n.325-26C=) | |
3 | g.190409877C>T | CA548499416 | CLDN16 | c.575-26C>T (n.575-26C>T) c.115-26C>T (n.115-26C>T) c.785-26C>T (n.785-26C>T) c.325-26C>T (n.325-26C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190409877_190409879del | CA548499414 | CLDN16 | c.575-26_575-24del (n.575-26_575-24del) c.115-26_115-24del (n.115-26_115-24del) c.785-26_785-24del (n.785-26_785-24del) c.325-26_325-24del (n.325-26_325-24del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190409878T>C | CA648077687 | CLDN16 | c.575-25T>C (n.575-25T>C) c.115-25T>C (n.115-25T>C) c.785-25T>C (n.785-25T>C) c.325-25T>C (n.325-25T>C) | COSMIC |
3 | g.190409879T>A | CA2669041871 | CLDN16 | c.575-24T>A (n.575-24T>A) c.115-24T>A (n.115-24T>A) c.785-24T>A (n.785-24T>A) c.325-24T>A (n.325-24T>A) | gnomAD v4 |
3 | g.190409886_190409889dup | CA2669041872 | CLDN16 | c.575-17_575-14dup (n.575-17_575-14dup) c.115-17_115-14dup (n.115-17_115-14dup) c.785-17_785-14dup (n.785-17_785-14dup) c.325-17_325-14dup (n.325-17_325-14dup) | gnomAD v4 |
3 | g.190409886_190409887delinsAT | CA1428764430 | CLDN16 | c.575-17_575-16delinsAT (n.575-17_575-16delinsAT) c.115-17_115-16delinsAT (n.115-17_115-16delinsAT) c.785-17_785-16delinsAT (n.785-17_785-16delinsAT) c.325-17_325-16delinsAT (n.325-17_325-16delinsAT) | |
3 | g.190409887del | CA2753907 | CLDN16 | c.575-16del (n.575-16del) c.115-16del (n.115-16del) c.785-16del (n.785-16del) c.325-16del (n.325-16del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190409887T>A | CA2753908 | CLDN16 | c.575-16T>A (n.575-16T>A) c.115-16T>A (n.115-16T>A) c.785-16T>A (n.785-16T>A) c.325-16T>A (n.325-16T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409887T>C | CA548499421 | CLDN16 | c.575-16T>C (n.575-16T>C) c.115-16T>C (n.115-16T>C) c.785-16T>C (n.785-16T>C) c.325-16T>C (n.325-16T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409887T= | CA1428764433 | CLDN16 | c.575-16T= (n.575-16T=) c.115-16T= (n.115-16T=) c.785-16T= (n.785-16T=) c.325-16T= (n.325-16T=) | |
3 | g.190409888A= | CA1428764435 | CLDN16 | c.575-15A= (n.575-15A=) c.115-15A= (n.115-15A=) c.785-15A= (n.785-15A=) c.325-15A= (n.325-15A=) | |
3 | g.190409888A>G | CA548499423 | CLDN16 | c.575-15A>G (n.575-15A>G) c.115-15A>G (n.115-15A>G) c.785-15A>G (n.785-15A>G) c.325-15A>G (n.325-15A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409888A>T | CA2669041873 | CLDN16 | c.575-15A>T (n.575-15A>T) c.115-15A>T (n.115-15A>T) c.785-15A>T (n.785-15A>T) c.325-15A>T (n.325-15A>T) | gnomAD v4 |
3 | g.190409889T>A | CA2753909 | CLDN16 | c.575-14T>A (n.575-14T>A) c.115-14T>A (n.115-14T>A) c.785-14T>A (n.785-14T>A) c.325-14T>A (n.325-14T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190409889T>G | CA1057669757 | CLDN16 | c.575-14T>G (n.575-14T>G) c.115-14T>G (n.115-14T>G) c.785-14T>G (n.785-14T>G) c.325-14T>G (n.325-14T>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.190409889T= | CA1428764438 | CLDN16 | c.575-14T= (n.575-14T=) c.115-14T= (n.115-14T=) c.785-14T= (n.785-14T=) c.325-14T= (n.325-14T=) | |
3 | g.190409891T>G | CA437418646 | CLDN16 | c.575-12T>G (n.575-12T>G) c.115-12T>G (n.115-12T>G) c.785-12T>G (n.785-12T>G) c.325-12T>G (n.325-12T>G) | dbSNP gnomAD v4 |
3 | g.190409891T= | CA1428764441 | CLDN16 | c.575-12T= (n.575-12T=) c.115-12T= (n.115-12T=) c.785-12T= (n.785-12T=) c.325-12T= (n.325-12T=) | |
3 | g.190409892C>A | CA2669041874 | CLDN16 | c.575-11C>A (n.575-11C>A) c.115-11C>A (n.115-11C>A) c.785-11C>A (n.785-11C>A) c.325-11C>A (n.325-11C>A) | gnomAD v4 |
3 | g.190409892C>T | CA2577990839 | CLDN16 | c.575-11C>T (n.575-11C>T) c.115-11C>T (n.115-11C>T) c.785-11C>T (n.785-11C>T) c.325-11C>T (n.325-11C>T) | |
3 | g.190409894T>C | CA2753910 | CLDN16 | c.575-9T>C (n.575-9T>C) c.115-9T>C (n.115-9T>C) c.785-9T>C (n.785-9T>C) c.325-9T>C (n.325-9T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409894T= | CA1428764443 | CLDN16 | c.575-9T= (n.575-9T=) c.115-9T= (n.115-9T=) c.785-9T= (n.785-9T=) c.325-9T= (n.325-9T=) | |
3 | g.190409896C= | CA1428764445 | CLDN16 | c.575-7C= (n.575-7C=) c.115-7C= (n.115-7C=) c.785-7C= (n.785-7C=) c.325-7C= (n.325-7C=) | |
3 | g.190409896C>G | CA2669041875 | CLDN16 | c.575-7C>G (n.575-7C>G) c.115-7C>G (n.115-7C>G) c.785-7C>G (n.785-7C>G) c.325-7C>G (n.325-7C>G) | gnomAD v4 |
3 | g.190409896C>T | CA2753911 | CLDN16 | c.575-7C>T (n.575-7C>T) c.115-7C>T (n.115-7C>T) c.785-7C>T (n.785-7C>T) c.325-7C>T (n.325-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409898A>G | CA2669041876 | CLDN16 | c.575-5A>G (n.575-5A>G) c.115-5A>G (n.115-5A>G) c.785-5A>G (n.785-5A>G) c.325-5A>G (n.325-5A>G) | gnomAD v4 |
3 | g.190409899A>G | CA2669041877 | CLDN16 | c.575-4A>G (n.575-4A>G) c.115-4A>G (n.115-4A>G) c.785-4A>G (n.785-4A>G) c.325-4A>G (n.325-4A>G) | gnomAD v4 |
3 | g.190409900C= | CA1428764452 | CLDN16 | c.575-3C= (n.575-3C=) c.115-3C= (n.115-3C=) c.785-3C= (n.785-3C=) c.325-3C= (n.325-3C=) | |
3 | g.190409900C>T | CA1428764453 | CLDN16 | c.575-3C>T (n.575-3C>T) c.115-3C>T (n.115-3C>T) c.785-3C>T (n.785-3C>T) c.325-3C>T (n.325-3C>T) | dbSNP |
3 | g.190409901A>C | CA355768164 | CLDN16 | c.575-2A>C (n.575-2A>C) c.115-2A>C (n.115-2A>C) c.785-2A>C (n.785-2A>C) c.325-2A>C (n.325-2A>C) | |
3 | g.190409901A>G | CA355768167 | CLDN16 | c.575-2A>G (n.575-2A>G) c.115-2A>G (n.115-2A>G) c.785-2A>G (n.785-2A>G) c.325-2A>G (n.325-2A>G) | |
3 | g.190409901A>T | CA355768170 | CLDN16 | c.575-2A>T (n.575-2A>T) c.115-2A>T (n.115-2A>T) c.785-2A>T (n.785-2A>T) c.325-2A>T (n.325-2A>T) | |
3 | g.190409902G>A | CA355768173 | CLDN16 | c.575-1G>A (n.575-1G>A) c.115-1G>A (n.115-1G>A) c.785-1G>A (n.785-1G>A) c.325-1G>A (n.325-1G>A) | |
3 | g.190409902G>C | CA355768176 | CLDN16 | c.575-1G>C (n.575-1G>C) c.115-1G>C (n.115-1G>C) c.785-1G>C (n.785-1G>C) c.325-1G>C (n.325-1G>C) | |
3 | g.190409902G>T | CA355768175 | CLDN16 | c.575-1G>T (n.575-1G>T) c.115-1G>T (n.115-1G>T) c.785-1G>T (n.785-1G>T) c.325-1G>T (n.325-1G>T) | |
3 | g.190409903A>C | CA355768180 | CLDN16 | c.575A>C (p.Asp192Ala) c.115A>C (p.Met39Leu) c.785A>C (p.Asp262Ala) c.325A>C (p.Met109Leu) | |
3 | g.190409903A>G | CA355768184 | CLDN16 | c.575A>G (p.Asp192Gly) c.115A>G (p.Met39Val) c.785A>G (p.Asp262Gly) c.325A>G (p.Met109Val) | |
3 | g.190409903A>T | CA355768181 | CLDN16 | c.575A>T (p.Asp192Val) c.115A>T (p.Met39Leu) c.785A>T (p.Asp262Val) c.325A>T (p.Met109Leu) | gnomAD v4 |
3 | g.190409904T>A | CA2753912 | CLDN16 | c.576T>A (p.Asp192Glu) c.116T>A (p.Met39Lys) c.786T>A (p.Asp262Glu) c.326T>A (p.Met109Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.190409904T>C | CA355768188 | CLDN16 | c.576T>C (p.Asp192=) c.116T>C (p.Met39Thr) c.786T>C (p.Asp262=) c.326T>C (p.Met109Thr) | |
3 | g.190409904T>G | CA355768190 | CLDN16 | c.576T>G (p.Asp192Glu) c.116T>G (p.Met39Arg) c.786T>G (p.Asp262Glu) c.326T>G (p.Met109Arg) | |
3 | g.190409904T= | CA1428764457 | CLDN16 | c.576T= (p.Asp192=) c.116T= (p.Met39=) c.786T= (p.Asp262=) c.326T= (p.Met109=) | |
3 | g.190409905G>A | CA355768192 | CLDN16 | c.577G>A (p.Val193Ile) c.117G>A (p.Met39Ile) c.787G>A (p.Val263Ile) c.327G>A (p.Met109Ile) | |
3 | g.190409905G>C | CA355768195 | CLDN16 | c.577G>C (p.Val193Leu) c.117G>C (p.Met39Ile) c.787G>C (p.Val263Leu) c.327G>C (p.Met109Ile) | |
3 | g.190409905G>T | CA355768197 | CLDN16 | c.577G>T (p.Val193Phe) c.117G>T (p.Met39Ile) c.787G>T (p.Val263Phe) c.327G>T (p.Met109Ile) | |
3 | g.190409906T>A | CA355768201 | CLDN16 | c.578T>A (p.Val193Asp) c.118T>A (p.Leu40Met) c.788T>A (p.Val263Asp) c.328T>A (p.Leu110Met) | |
3 | g.190409906T>C | CA355768202 | CLDN16 | c.578T>C (p.Val193Ala) c.118T>C (p.Leu40=) c.788T>C (p.Val263Ala) c.328T>C (p.Leu110=) | |
3 | g.190409906T>G | CA355768205 | CLDN16 | c.578T>G (p.Val193Gly) c.118T>G (p.Leu40Val) c.788T>G (p.Val263Gly) c.328T>G (p.Leu110Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190409906T= | CA1428764459 | CLDN16 | c.578T= (p.Val193=) c.118T= (p.Leu40=) c.788T= (p.Val263=) c.328T= (p.Leu110=) | |
3 | g.190409907T>A | CA355768208 | CLDN16 | c.579T>A (p.Val193=) c.119T>A (p.Leu40Ter) c.789T>A (p.Val263=) c.329T>A (p.Leu110Ter) | |
3 | g.190409907T>C | CA355768210 | CLDN16 | c.579T>C (p.Val193=) c.119T>C (p.Leu40Ser) c.789T>C (p.Val263=) c.329T>C (p.Leu110Ser) | |
3 | g.190409907T>G | CA355768212 | CLDN16 | c.579T>G (p.Val193=) c.119T>G (p.Leu40Trp) c.789T>G (p.Val263=) c.329T>G (p.Leu110Trp) | |
3 | g.190409908G>A | CA355768218 | CLDN16 | c.580G>A (p.Gly194Arg) c.120G>A (p.Leu40=) c.790G>A (p.Gly264Arg) c.330G>A (p.Leu110=) | |
3 | g.190409908G>C | CA355768214 | CLDN16 | c.580G>C (p.Gly194Arg) c.120G>C (p.Leu40Phe) c.790G>C (p.Gly264Arg) c.330G>C (p.Leu110Phe) | |
3 | g.190409908G>T | CA355768217 | CLDN16 | c.580G>T (p.Gly194Ter) c.120G>T (p.Leu40Phe) c.790G>T (p.Gly264Ter) c.330G>T (p.Leu110Phe) | |
3 | g.190409909G>A | CA2753913 | CLDN16 | c.581G>A (p.Gly194Glu) c.121G>A (p.Asp41Asn) c.791G>A (p.Gly264Glu) c.331G>A (p.Asp111Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190409909G>C | CA355768222 | CLDN16 | c.581G>C (p.Gly194Ala) c.121G>C (p.Asp41His) c.791G>C (p.Gly264Ala) c.331G>C (p.Asp111His) | gnomAD v4 |
3 | g.190409909G= | CA1428764461 | CLDN16 | c.581G= (p.Gly194=) c.121G= (p.Asp41=) c.791G= (p.Gly264=) c.331G= (p.Asp111=) | |
3 | g.190409909G>T | CA355768223 | CLDN16 | c.581G>T (p.Gly194Val) c.121G>T (p.Asp41Tyr) c.791G>T (p.Gly264Val) c.331G>T (p.Asp111Tyr) | |
3 | g.190409910A= | CA1428764466 | CLDN16 | c.582A= (p.Gly194=) c.122A= (p.Asp41=) c.792A= (p.Gly264=) c.332A= (p.Asp111=) | |
3 | g.190409910A>C | CA355768225 | CLDN16 | c.582A>C (p.Gly194=) c.122A>C (p.Asp41Ala) c.792A>C (p.Gly264=) c.332A>C (p.Asp111Ala) | |
3 | g.190409910A>G | CA355768226 | CLDN16 | c.582A>G (p.Gly194=) c.122A>G (p.Asp41Gly) c.792A>G (p.Gly264=) c.332A>G (p.Asp111Gly) | dbSNP |
3 | g.190409910A>T | CA355768227 | CLDN16 | c.582A>T (p.Gly194=) c.122A>T (p.Asp41Val) c.792A>T (p.Gly264=) c.332A>T (p.Asp111Val) | |
3 | g.190409911C>A | CA355768228 | CLDN16 | c.583C>A (p.Pro195Thr) c.123C>A (p.Asp41Glu) c.793C>A (p.Pro265Thr) c.333C>A (p.Asp111Glu) | |
3 | g.190409911C>G | CA355768229 | CLDN16 | c.583C>G (p.Pro195Ala) c.123C>G (p.Asp41Glu) c.793C>G (p.Pro265Ala) c.333C>G (p.Asp111Glu) | COSMIC |
3 | g.190409911C>T | CA355768230 | CLDN16 | c.583C>T (p.Pro195Ser) c.123C>T (p.Asp41=) c.793C>T (p.Pro265Ser) c.333C>T (p.Asp111=) | |
3 | g.190409912C>A | CA355768231 | CLDN16 | c.584C>A (p.Pro195His) c.124C>A (p.Leu42Met) c.794C>A (p.Pro265His) c.334C>A (p.Leu112Met) | |
3 | g.190409912C= | CA1428764468 | CLDN16 | c.584C= (p.Pro195=) c.124C= (p.Leu42=) c.794C= (p.Pro265=) c.334C= (p.Leu112=) | |
3 | g.190409912C>G | CA2753914 | CLDN16 | c.584C>G (p.Pro195Arg) c.124C>G (p.Leu42Val) c.794C>G (p.Pro265Arg) c.334C>G (p.Leu112Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190409912C>T | CA355768233 | CLDN16 | c.584C>T (p.Pro195Leu) c.124C>T (p.Leu42=) c.794C>T (p.Pro265Leu) c.334C>T (p.Leu112=) | |
3 | g.190409913T>A | CA355768240 | CLDN16 | c.585T>A (p.Pro195=) c.125T>A (p.Leu42Gln) c.795T>A (p.Pro265=) c.335T>A (p.Leu112Gln) | |
3 | g.190409913T>C | CA2753915 | CLDN16 | c.585T>C (p.Pro195=) c.125T>C (p.Leu42Pro) c.795T>C (p.Pro265=) c.335T>C (p.Leu112Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190409913T>G | CA355768236 | CLDN16 | c.585T>G (p.Pro195=) c.125T>G (p.Leu42Arg) c.795T>G (p.Pro265=) c.335T>G (p.Leu112Arg) | |
3 | g.190409913T= | CA1428764470 | CLDN16 | c.585T= (p.Pro195=) c.125T= (p.Leu42=) c.795T= (p.Pro265=) c.335T= (p.Leu112=) | |
3 | g.190409914G>A | CA355768246 | CLDN16 | c.586G>A (p.Glu196Lys) c.126G>A (p.Leu42=) c.796G>A (p.Glu266Lys) c.336G>A (p.Leu112=) | |
3 | g.190409914G>C | CA355768241 | CLDN16 | c.586G>C (p.Glu196Gln) c.126G>C (p.Leu42=) c.796G>C (p.Glu266Gln) c.336G>C (p.Leu112=) | |
3 | g.190409914G>T | CA355768243 | CLDN16 | c.586G>T (p.Glu196Ter) c.126G>T (p.Leu42=) c.796G>T (p.Glu266Ter) c.336G>T (p.Leu112=) | |
3 | g.190409915A>C | CA355768250 | CLDN16 | c.587A>C (p.Glu196Ala) c.127A>C (p.Arg43=) c.797A>C (p.Glu266Ala) c.337A>C (p.Arg113=) | |
3 | g.190409915A>G | CA355768257 | CLDN16 | c.587A>G (p.Glu196Gly) c.127A>G (p.Arg43Gly) c.797A>G (p.Glu266Gly) c.337A>G (p.Arg113Gly) | |
3 | g.190409915A>T | CA355768260 | CLDN16 | c.587A>T (p.Glu196Val) c.127A>T (p.Arg43Ter) c.797A>T (p.Glu266Val) c.337A>T (p.Arg113Ter) | gnomAD v4 |
3 | g.190409916G>A | CA355768265 | CLDN16 | c.588G>A (p.Glu196=) c.128G>A (p.Arg43Lys) c.798G>A (p.Glu266=) c.338G>A (p.Arg113Lys) | |
3 | g.190409916G>C | CA2753916 | CLDN16 | c.588G>C (p.Glu196Asp) c.128G>C (p.Arg43Thr) c.798G>C (p.Glu266Asp) c.338G>C (p.Arg113Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409916G= | CA1428764473 | CLDN16 | c.588G= (p.Glu196=) c.128G= (p.Arg43=) c.798G= (p.Glu266=) c.338G= (p.Arg113=) | |
3 | g.190409916G>T | CA355768261 | CLDN16 | c.588G>T (p.Glu196Asp) c.128G>T (p.Arg43Ile) c.798G>T (p.Glu266Asp) c.338G>T (p.Arg113Ile) | dbSNP |
3 | g.190409917A>C | CA355768268 | CLDN16 | c.589A>C (p.Arg197=) c.129A>C (p.Arg43Ser) c.799A>C (p.Arg267=) c.339A>C (p.Arg113Ser) | |
3 | g.190409917A>G | CA355768269 | CLDN16 | c.589A>G (p.Arg197Gly) c.129A>G (p.Arg43=) c.799A>G (p.Arg267Gly) c.339A>G (p.Arg113=) | |
3 | g.190409917A>T | CA355768270 | CLDN16 | c.589A>T (p.Arg197Ter) c.129A>T (p.Arg43Ser) c.799A>T (p.Arg267Ter) c.339A>T (p.Arg113Ser) | |
3 | g.190409917_190409918delinsAG | CA1428764476 | CLDN16 | c.589_590delinsAG (p.Arg197=) c.129_130delinsAG (p.Arg43=) c.799_800delinsAG (p.Arg267=) c.339_340delinsAG (p.Arg113=) | |
3 | g.190409918del | CA917094064 | CLDN16 | c.590del (p.Arg197LysfsTer7) c.130del (p.Glu44LysfsTer?) c.800del (p.Arg267LysfsTer7) c.340del (p.Glu114LysfsTer?) | dbSNP |
3 | g.190409918G>A | CA2753917 | CLDN16 | c.590G>A (p.Arg197Lys) c.130G>A (p.Glu44Lys) c.800G>A (p.Arg267Lys) c.340G>A (p.Glu114Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.190409918G>C | CA355768271 | CLDN16 | c.590G>C (p.Arg197Thr) c.130G>C (p.Glu44Gln) c.800G>C (p.Arg267Thr) c.340G>C (p.Glu114Gln) | |
3 | g.190409918G= | CA1428764479 | CLDN16 | c.590G= (p.Arg197=) c.130G= (p.Glu44=) c.800G= (p.Arg267=) c.340G= (p.Glu114=) | |
3 | g.190409918G>T | CA355768272 | CLDN16 | c.590G>T (p.Arg197Ile) c.130G>T (p.Glu44Ter) c.800G>T (p.Arg267Ile) c.340G>T (p.Glu114Ter) | |
3 | g.190409919A>C | CA355768273 | CLDN16 | c.591A>C (p.Arg197Ser) c.131A>C (p.Glu44Ala) c.801A>C (p.Arg267Ser) c.341A>C (p.Glu114Ala) | |
3 | g.190409919A>G | CA355768275 | CLDN16 | c.591A>G (p.Arg197=) c.131A>G (p.Glu44Gly) c.801A>G (p.Arg267=) c.341A>G (p.Glu114Gly) | |
3 | g.190409919A>T | CA355768274 | CLDN16 | c.591A>T (p.Arg197Ser) c.131A>T (p.Glu44Val) c.801A>T (p.Arg267Ser) c.341A>T (p.Glu114Val) | |
3 | g.190409920A>C | CA355768276 | CLDN16 | c.592A>C (p.Asn198His) c.132A>C (p.Glu44Asp) c.802A>C (p.Asn268His) c.342A>C (p.Glu114Asp) | |
3 | g.190409920A>G | CA355768277 | CLDN16 | c.592A>G (p.Asn198Asp) c.132A>G (p.Glu44=) c.802A>G (p.Asn268Asp) c.342A>G (p.Glu114=) | |
3 | g.190409920A>T | CA355768278 | CLDN16 | c.592A>T (p.Asn198Tyr) c.132A>T (p.Glu44Asp) c.802A>T (p.Asn268Tyr) c.342A>T (p.Glu114Asp) | |
3 | g.190409921A>C | CA355768280 | CLDN16 | c.593A>C (p.Asn198Thr) c.133A>C (p.Thr45Pro) c.803A>C (p.Asn268Thr) c.343A>C (p.Thr115Pro) | |
3 | g.190409921A>G | CA355768281 | CLDN16 | c.593A>G (p.Asn198Ser) c.133A>G (p.Thr45Ala) c.803A>G (p.Asn268Ser) c.343A>G (p.Thr115Ala) | |
3 | g.190409921A>T | CA355768283 | CLDN16 | c.593A>T (p.Asn198Ile) c.133A>T (p.Thr45Ser) c.803A>T (p.Asn268Ile) c.343A>T (p.Thr115Ser) | |
3 | g.190409922C>A | CA355768284 | CLDN16 | c.594C>A (p.Asn198Lys) c.134C>A (p.Thr45Asn) c.804C>A (p.Asn268Lys) c.344C>A (p.Thr115Asn) | |
3 | g.190409922C>G | CA355768285 | CLDN16 | c.594C>G (p.Asn198Lys) c.134C>G (p.Thr45Ser) c.804C>G (p.Asn268Lys) c.344C>G (p.Thr115Ser) | |
3 | g.190409922C>T | CA355768287 | CLDN16 | c.594C>T (p.Asn198=) c.134C>T (p.Thr45Ile) c.804C>T (p.Asn268=) c.344C>T (p.Thr115Ile) | |
3 | g.190409923T>A | CA355768294 | CLDN16 | c.595T>A (p.Tyr199Asn) c.135T>A (p.Thr45=) c.805T>A (p.Tyr269Asn) c.345T>A (p.Thr115=) | |
3 | g.190409923T>C | CA355768297 | CLDN16 | c.595T>C (p.Tyr199His) c.135T>C (p.Thr45=) c.805T>C (p.Tyr269His) c.345T>C (p.Thr115=) | |
3 | g.190409923T>G | CA355768299 | CLDN16 | c.595T>G (p.Tyr199Asp) c.135T>G (p.Thr45=) c.805T>G (p.Tyr269Asp) c.345T>G (p.Thr115=) | |
3 | g.190409924A= | CA1428764484 | CLDN16 | c.596A= (p.Tyr199=) c.136A= (p.Ile46=) c.806A= (p.Tyr269=) c.346A= (p.Ile116=) | |
3 | g.190409924A>C | CA355768304 | CLDN16 | c.596A>C (p.Tyr199Ser) c.136A>C (p.Ile46Leu) c.806A>C (p.Tyr269Ser) c.346A>C (p.Ile116Leu) | |
3 | g.190409924A>G | CA355768305 | CLDN16 | c.596A>G (p.Tyr199Cys) c.136A>G (p.Ile46Val) c.806A>G (p.Tyr269Cys) c.346A>G (p.Ile116Val) | ClinVar dbSNP |
3 | g.190409924A>T | CA355768301 | CLDN16 | c.596A>T (p.Tyr199Phe) c.136A>T (p.Ile46Phe) c.806A>T (p.Tyr269Phe) c.346A>T (p.Ile116Phe) | |
3 | g.190409925T>A | CA355768307 | CLDN16 | c.597T>A (p.Tyr199Ter) c.137T>A (p.Ile46Asn) c.807T>A (p.Tyr269Ter) c.347T>A (p.Ile116Asn) | |
3 | g.190409925T>C | CA355768315 | CLDN16 | c.597T>C (p.Tyr199=) c.137T>C (p.Ile46Thr) c.807T>C (p.Tyr269=) c.347T>C (p.Ile116Thr) | |
3 | g.190409925T>G | CA355768313 | CLDN16 | c.597T>G (p.Tyr199Ter) c.137T>G (p.Ile46Ser) c.807T>G (p.Tyr269Ter) c.347T>G (p.Ile116Ser) | |
3 | g.190409926C>A | CA355768320 | CLDN16 | c.598C>A (p.Pro200Thr) c.138C>A (p.Ile46=) c.808C>A (p.Pro270Thr) c.348C>A (p.Ile116=) | |
3 | g.190409926C>G | CA355768323 | CLDN16 | c.598C>G (p.Pro200Ala) c.138C>G (p.Ile46Met) c.808C>G (p.Pro270Ala) c.348C>G (p.Ile116Met) | |
3 | g.190409926C>T | CA355768325 | CLDN16 | c.598C>T (p.Pro200Ser) c.138C>T (p.Ile46=) c.808C>T (p.Pro270Ser) c.348C>T (p.Ile116=) | |
3 | g.190409927C>A | CA355768328 | CLDN16 | c.599C>A (p.Pro200His) c.139C>A (p.Leu47Ile) c.809C>A (p.Pro270His) c.349C>A (p.Leu117Ile) | |
3 | g.190409927C>G | CA355768331 | CLDN16 | c.599C>G (p.Pro200Arg) c.139C>G (p.Leu47Val) c.809C>G (p.Pro270Arg) c.349C>G (p.Leu117Val) | |
3 | g.190409927C>T | CA355768333 | CLDN16 | c.599C>T (p.Pro200Leu) c.139C>T (p.Leu47Phe) c.809C>T (p.Pro270Leu) c.349C>T (p.Leu117Phe) | gnomAD v4 |
3 | g.190409928T>A | CA355768334 | CLDN16 | c.600T>A (p.Pro200=) c.140T>A (p.Leu47His) c.810T>A (p.Pro270=) c.350T>A (p.Leu117His) | |
3 | g.190409928T>C | CA355768338 | CLDN16 | c.600T>C (p.Pro200=) c.140T>C (p.Leu47Pro) c.810T>C (p.Pro270=) c.350T>C (p.Leu117Pro) | gnomAD v4 |
3 | g.190409928T>G | CA355768344 | CLDN16 | c.600T>G (p.Pro200=) c.140T>G (p.Leu47Arg) c.810T>G (p.Pro270=) c.350T>G (p.Leu117Arg) | |
3 | g.190409929T>A | CA355768348 | CLDN16 | c.601T>A (p.Tyr201Asn) c.141T>A (p.Leu47=) c.811T>A (p.Tyr271Asn) c.351T>A (p.Leu117=) | |
3 | g.190409929T>C | CA355768351 | CLDN16 | c.601T>C (p.Tyr201His) c.141T>C (p.Leu47=) c.811T>C (p.Tyr271His) c.351T>C (p.Leu117=) | gnomAD v4 |
3 | g.190409929T>G | CA355768353 | CLDN16 | c.601T>G (p.Tyr201Asp) c.141T>G (p.Leu47=) c.811T>G (p.Tyr271Asp) c.351T>G (p.Leu117=) | dbSNP |
3 | g.190409929T= | CA1428764486 | CLDN16 | c.601T= (p.Tyr201=) c.141T= (p.Leu47=) c.811T= (p.Tyr271=) c.351T= (p.Leu117=) | |
3 | g.190409930A>C | CA355768360 | CLDN16 | c.602A>C (p.Tyr201Ser) c.142A>C (p.Ile48Leu) c.812A>C (p.Tyr271Ser) c.352A>C (p.Ile118Leu) | |
3 | g.190409930A>G | CA355768356 | CLDN16 | c.602A>G (p.Tyr201Cys) c.142A>G (p.Ile48Val) c.812A>G (p.Tyr271Cys) c.352A>G (p.Ile118Val) | gnomAD v4 |
3 | g.190409930A>T | CA355768357 | CLDN16 | c.602A>T (p.Tyr201Phe) c.142A>T (p.Ile48Phe) c.812A>T (p.Tyr271Phe) c.352A>T (p.Ile118Phe) | |
3 | g.190409931T>A | CA355768362 | CLDN16 | c.603T>A (p.Tyr201Ter) c.143T>A (p.Ile48Asn) c.813T>A (p.Tyr271Ter) c.353T>A (p.Ile118Asn) | |
3 | g.190409931T>C | CA355768365 | CLDN16 | c.603T>C (p.Tyr201=) c.143T>C (p.Ile48Thr) c.813T>C (p.Tyr271=) c.353T>C (p.Ile118Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409931T>G | CA355768370 | CLDN16 | c.603T>G (p.Tyr201Ter) c.143T>G (p.Ile48Ser) c.813T>G (p.Tyr271Ter) c.353T>G (p.Ile118Ser) | |
3 | g.190409931T= | CA1428764492 | CLDN16 | c.603T= (p.Tyr201=) c.143T= (p.Ile48=) c.813T= (p.Tyr271=) c.353T= (p.Ile118=) | |
3 | g.190409932T>A | CA355768374 | CLDN16 | c.604T>A (p.Ser202Thr) c.144T>A (p.Ile48=) c.814T>A (p.Ser272Thr) c.354T>A (p.Ile118=) | |
3 | g.190409932T>C | CA355768376 | CLDN16 | c.604T>C (p.Ser202Pro) c.144T>C (p.Ile48=) c.814T>C (p.Ser272Pro) c.354T>C (p.Ile118=) | |
3 | g.190409932T>G | CA355768379 | CLDN16 | c.604T>G (p.Ser202Ala) c.144T>G (p.Ile48Met) c.814T>G (p.Ser272Ala) c.354T>G (p.Ile118Met) | |
3 | g.190409933C>A | CA355768387 | CLDN16 | c.605C>A (p.Ser202Tyr) c.145C>A (p.Pro49Thr) c.815C>A (p.Ser272Tyr) c.355C>A (p.Pro119Thr) | |
3 | g.190409933C= | CA1428764495 | CLDN16 | c.605C= (p.Ser202=) c.145C= (p.Pro49=) c.815C= (p.Ser272=) c.355C= (p.Pro119=) | |
3 | g.190409933C>G | CA355768389 | CLDN16 | c.605C>G (p.Ser202Cys) c.145C>G (p.Pro49Ala) c.815C>G (p.Ser272Cys) c.355C>G (p.Pro119Ala) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190409933C>T | CA355768390 | CLDN16 | c.605C>T (p.Ser202Phe) c.145C>T (p.Pro49Ser) c.815C>T (p.Ser272Phe) c.355C>T (p.Pro119Ser) | gnomAD v4 |
3 | g.190409934C>A | CA355768392 | CLDN16 | c.606C>A (p.Ser202=) c.146C>A (p.Pro49His) c.816C>A (p.Ser272=) c.356C>A (p.Pro119His) | |
3 | g.190409934C>G | CA355768395 | CLDN16 | c.606C>G (p.Ser202=) c.146C>G (p.Pro49Arg) c.816C>G (p.Ser272=) c.356C>G (p.Pro119Arg) | |
3 | g.190409934C>T | CA355768396 | CLDN16 | c.606C>T (p.Ser202=) c.146C>T (p.Pro49Leu) c.816C>T (p.Ser272=) c.356C>T (p.Pro119Leu) | |
3 | g.190409935T>A | CA355768398 | CLDN16 | c.607T>A (p.Leu203Met) c.147T>A (p.Pro49=) c.817T>A (p.Leu273Met) c.357T>A (p.Pro119=) | |
3 | g.190409935T>C | CA437418647 | CLDN16 | c.607T>C (p.Leu203=) c.147T>C (p.Pro49=) c.817T>C (p.Leu273=) c.357T>C (p.Pro119=) | |
3 | g.190409935T>G | CA355768400 | CLDN16 | c.607T>G (p.Leu203Val) c.147T>G (p.Pro49=) c.817T>G (p.Leu273Val) c.357T>G (p.Pro119=) | |
3 | g.190409936T>A | CA355768403 | CLDN16 | c.608T>A (p.Leu203Ter) c.148T>A (p.Ter50Arg) c.818T>A (p.Leu273Ter) c.358T>A (p.Ter120Arg) | |
3 | g.190409936T>C | CA355768405 | CLDN16 | c.608T>C (p.Leu203Ser) c.148T>C (p.Ter50Arg) c.818T>C (p.Leu273Ser) c.358T>C (p.Ter120Arg) | COSMIC |
3 | g.190409936T>G | CA355768408 | CLDN16 | c.608T>G (p.Leu203Trp) c.148T>G (p.Ter50Gly) c.818T>G (p.Leu273Trp) c.358T>G (p.Ter120Gly) | |
3 | g.190409937G>A | CA437418648 | CLDN16 | c.609G>A (p.Leu203=) c.149G>A (p.Ter50=) c.819G>A (p.Leu273=) c.359G>A (p.Ter120=) | |
3 | g.190409937G>C | CA355768410 | CLDN16 | c.609G>C (p.Leu203Phe) c.149G>C (p.Ter50Ser) c.819G>C (p.Leu273Phe) c.359G>C (p.Ter120Ser) | gnomAD v4 |
3 | g.190409937G>T | CA355768413 | CLDN16 | c.609G>T (p.Leu203Phe) c.149G>T (p.Ter50Leu) c.819G>T (p.Leu273Phe) c.359G>T (p.Ter120Leu) | |
3 | g.190409938A>C | CA355768414 | CLDN16 | c.610A>C (p.Arg204=) c.150A>C (p.Ter50Cys) c.820A>C (p.Arg274=) c.360A>C (p.Ter120Cys) | |
3 | g.190409938A>G | CA355768420 | CLDN16 | c.610A>G (p.Arg204Gly) c.150A>G (p.Ter50Trp) c.820A>G (p.Arg274Gly) c.360A>G (p.Ter120Trp) | |
3 | g.190409938A>T | CA355768423 | CLDN16 | c.610A>T (p.Arg204Trp) c.150A>T (p.Ter50Cys) c.820A>T (p.Arg274Trp) c.360A>T (p.Ter120Cys) | |
3 | g.190409939G>A | CA355768425 | CLDN16 | c.611G>A (p.Arg204Lys) c.*1G>A (n.*1G>A) c.821G>A (p.Arg274Lys) c.361G>A (n.361G>A) | COSMIC |
3 | g.190409939G>C | CA355768426 | CLDN16 | c.611G>C (p.Arg204Thr) c.*1G>C (n.*1G>C) c.821G>C (p.Arg274Thr) c.361G>C (n.361G>C) | dbSNP |
3 | g.190409939G= | CA1428764497 | CLDN16 | c.611G= (p.Arg204=) c.*1G= (n.*1G=) c.821G= (p.Arg274=) c.361G= (n.361G=) | |
3 | g.190409939G>T | CA355768427 | CLDN16 | c.611G>T (p.Arg204Met) c.*1G>T (n.*1G>T) c.821G>T (p.Arg274Met) c.361G>T (n.361G>T) | ClinVar dbSNP |
3 | g.190409940G>A | CA437418649 | CLDN16 | c.612G>A (p.Arg204=) c.*2G>A (n.*2G>A) c.822G>A (p.Arg274=) c.362G>A (n.362G>A) | |
3 | g.190409940G>C | CA355768430 | CLDN16 | c.612G>C (p.Arg204Ser) c.*2G>C (n.*2G>C) c.822G>C (p.Arg274Ser) c.362G>C (n.362G>C) | |
3 | g.190409940G>T | CA355768435 | CLDN16 | c.612G>T (p.Arg204Ser) c.*2G>T (n.*2G>T) c.822G>T (p.Arg274Ser) c.362G>T (n.362G>T) | |
3 | g.190409941A= | CA1428764502 | CLDN16 | c.613A= (p.Lys205=) c.*3A= (n.*3A=) c.823A= (p.Lys275=) c.363A= (n.363A=) | |
3 | g.190409941A>C | CA355768439 | CLDN16 | c.613A>C (p.Lys205Gln) c.*3A>C (n.*3A>C) c.823A>C (p.Lys275Gln) c.363A>C (n.363A>C) | |
3 | g.190409941A>G | CA2753918 | CLDN16 | c.613A>G (p.Lys205Glu) c.*3A>G (n.*3A>G) c.823A>G (p.Lys275Glu) c.363A>G (n.363A>G) | dbSNP ExAC gnomAD v2 |
3 | g.190409941A>T | CA129189 | CLDN16 | c.613A>T (p.Lys205Ter) c.*3A>T (n.*3A>T) c.823A>T (p.Lys275Ter) c.363A>T (n.363A>T) | ClinVar dbSNP |
3 | g.190409942A>C | CA355768440 | CLDN16 | c.614A>C (p.Lys205Thr) c.*4A>C (n.*4A>C) c.824A>C (p.Lys275Thr) c.364A>C (n.364A>C) | |
3 | g.190409942A>G | CA355768441 | CLDN16 | c.614A>G (p.Lys205Arg) c.*4A>G (n.*4A>G) c.824A>G (p.Lys275Arg) c.364A>G (n.364A>G) | |
3 | g.190409942A>T | CA355768443 | CLDN16 | c.614A>T (p.Lys205Ile) c.*4A>T (n.*4A>T) c.824A>T (p.Lys275Ile) c.364A>T (n.364A>T) | |
3 | g.190409943A>C | CA355768446 | CLDN16 | c.615A>C (p.Lys205Asn) c.*5A>C (n.*5A>C) c.825A>C (p.Lys275Asn) c.365A>C (n.365A>C) | |
3 | g.190409943A>G | CA437418650 | CLDN16 | c.615A>G (p.Lys205=) c.*5A>G (n.*5A>G) c.825A>G (p.Lys275=) c.365A>G (n.365A>G) | |
3 | g.190409943A>T | CA355768448 | CLDN16 | c.615A>T (p.Lys205Asn) c.*5A>T (n.*5A>T) c.825A>T (p.Lys275Asn) c.365A>T (n.365A>T) | |
3 | g.190409944G>A | CA2753919 | CLDN16 | c.616G>A (p.Ala206Thr) c.*6G>A (n.*6G>A) c.826G>A (p.Ala276Thr) c.366G>A (n.366G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409944G>C | CA355768454 | CLDN16 | c.616G>C (p.Ala206Pro) c.*6G>C (n.*6G>C) c.826G>C (p.Ala276Pro) c.366G>C (n.366G>C) | |
3 | g.190409944G= | CA1428764510 | CLDN16 | c.616G= (p.Ala206=) c.*6G= (n.*6G=) c.826G= (p.Ala276=) c.366G= (n.366G=) | |
3 | g.190409944G>T | CA355768457 | CLDN16 | c.616G>T (p.Ala206Ser) c.*6G>T (n.*6G>T) c.826G>T (p.Ala276Ser) c.366G>T (n.366G>T) | |
3 | g.190409945C>A | CA355768459 | CLDN16 | c.617C>A (p.Ala206Asp) c.*7C>A (n.*7C>A) c.827C>A (p.Ala276Asp) c.367C>A (n.367C>A) | gnomAD v4 |
3 | g.190409945C= | CA1428764515 | CLDN16 | c.617C= (p.Ala206=) c.*7C= (n.*7C=) c.827C= (p.Ala276=) c.367C= (n.367C=) | |
3 | g.190409945C>G | CA355768461 | CLDN16 | c.617C>G (p.Ala206Gly) c.*7C>G (n.*7C>G) c.827C>G (p.Ala276Gly) c.367C>G (n.367C>G) | dbSNP |
3 | g.190409945C>T | CA355768464 | CLDN16 | c.617C>T (p.Ala206Val) c.*7C>T (n.*7C>T) c.827C>T (p.Ala276Val) c.367C>T (n.367C>T) | dbSNP gnomAD v2 |
3 | g.190409946C>A | CA437418651 | CLDN16 | c.618C>A (p.Ala206=) c.*8C>A (n.*8C>A) c.828C>A (p.Ala276=) c.368C>A (n.368C>A) | |
3 | g.190409946C>G | CA437418652 | CLDN16 | c.618C>G (p.Ala206=) c.*8C>G (n.*8C>G) c.828C>G (p.Ala276=) c.368C>G (n.368C>G) | gnomAD v4 |
3 | g.190409946C>T | CA437418653 | CLDN16 | c.618C>T (p.Ala206=) c.*8C>T (n.*8C>T) c.828C>T (p.Ala276=) c.368C>T (n.368C>T) | |
3 | g.190409947T>A | CA355768466 | CLDN16 | c.619T>A (p.Tyr207Asn) c.*9T>A (n.*9T>A) c.829T>A (p.Tyr277Asn) c.369T>A (n.369T>A) | |
3 | g.190409947T>C | CA355768469 | CLDN16 | c.619T>C (p.Tyr207His) c.*9T>C (n.*9T>C) c.829T>C (p.Tyr277His) c.369T>C (n.369T>C) | |
3 | g.190409947T>G | CA355768467 | CLDN16 | c.619T>G (p.Tyr207Asp) c.*9T>G (n.*9T>G) c.829T>G (p.Tyr277Asp) c.369T>G (n.369T>G) | |
3 | g.190409947_190409948insCCGTCTTGAGCTTGAAGTCTCTGATAGAGAACTGGCATCGGGCGCCGCCACTATCATAGCGCTTGCTCACCTTGCTTTTGAGAAGCTGGAGCGACGAGGTCGTA | CA2740493965 | CLDN16 | c.619_620insCCGTCTTGAGCTTGAAGTCTCTGATAGAGAACTGGCATCGGGCGCCGCCACTATCATAGCGCTTGCTCACCTTGCTTTTGAGAAGCTGGAGCGACGAGGTCGTA (p.Tyr207SerfsTer20) c.*9_*10insCCGTCTTGAGCTTGAAGTCTCTGATAGAGAACTGGCATCGGGCGCCGCCACTATCATAGCGCTTGCTCACCTTGCTTTTGAGAAGCTGGAGCGACGAGGTCGTA (n.*9_*10insCCGTCTTGAGCTTGAAGTCTCTGATAGAGAACTGGCATCGGGCGCCGCCACTATCATAGCGCTTGCTCACCTTGCTTTTGAGAAGCTGGAGCGACGAGGTCGTA) c.829_830insCCGTCTTGAGCTTGAAGTCTCTGATAGAGAACTGGCATCGGGCGCCGCCACTATCATAGCGCTTGCTCACCTTGCTTTTGAGAAGCTGGAGCGACGAGGTCGTA (p.Tyr277SerfsTer20) c.369_370insCCGTCTTGAGCTTGAAGTCTCTGATAGAGAACTGGCATCGGGCGCCGCCACTATCATAGCGCTTGCTCACCTTGCTTTTGAGAAGCTGGAGCGACGAGGTCGTA (n.369_370insCCGTCTTGAGCTTGAAGTCTCTGATAGAGAACTGGCATCGGGCGCCGCCACTATCATAGCGCTTGCTCACCTTGCTTTTGAGAAGCTGGAGCGACGAGGTCGTA) | |
3 | g.190409948A= | CA1428764519 | CLDN16 | c.620A= (p.Tyr207=) c.*10A= (n.*10A=) c.830A= (p.Tyr277=) c.370A= (n.370A=) | |
3 | g.190409948A>C | CA355768485 | CLDN16 | c.620A>C (p.Tyr207Ser) c.*10A>C (n.*10A>C) c.830A>C (p.Tyr277Ser) c.370A>C (n.370A>C) | |
3 | g.190409948A>G | CA2753920 | CLDN16 | c.620A>G (p.Tyr207Cys) c.*10A>G (n.*10A>G) c.830A>G (p.Tyr277Cys) c.370A>G (n.370A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190409948A>T | CA355768486 | CLDN16 | c.620A>T (p.Tyr207Phe) c.*10A>T (n.*10A>T) c.830A>T (p.Tyr277Phe) c.370A>T (n.370A>T) | |
3 | g.190409949T>A | CA355768489 | CLDN16 | c.621T>A (p.Tyr207Ter) c.*11T>A (n.*11T>A) c.831T>A (p.Tyr277Ter) c.371T>A (n.371T>A) | |
3 | g.190409949T>C | CA437418654 | CLDN16 | c.621T>C (p.Tyr207=) c.*11T>C (n.*11T>C) c.831T>C (p.Tyr277=) c.371T>C (n.371T>C) | gnomAD v4 |
3 | g.190409949T>G | CA117874 | CLDN16 | c.621T>G (p.Tyr207Ter) c.*11T>G (n.*11T>G) c.831T>G (p.Tyr277Ter) c.371T>G (n.371T>G) | ClinVar dbSNP gnomAD v4 |
3 | g.190409949T= | CA1428764527 | CLDN16 | c.621T= (p.Tyr207=) c.*11T= (n.*11T=) c.831T= (p.Tyr277=) c.371T= (n.371T=) |