UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 3 | g.190409950T>A | CA355768491 | CLDN16 | c.622T>A (p.Ser208Thr) c.*12T>A (n.*12T>A) c.832T>A (p.Ser278Thr) c.372T>A (n.372T>A) | |
| 3 | g.190409950T>C | CA355768493 | CLDN16 | c.622T>C (p.Ser208Pro) c.*12T>C (n.*12T>C) c.832T>C (p.Ser278Pro) c.372T>C (n.372T>C) | |
| 3 | g.190409950T>G | CA355768496 | CLDN16 | c.622T>G (p.Ser208Ala) c.*12T>G (n.*12T>G) c.832T>G (p.Ser278Ala) c.372T>G (n.372T>G) | |
| 3 | g.190409950_190409956del | CA2669041895 | CLDN16 | c.622_628del (p.Ser208ArgfsTer22) c.*12_*18del (n.*12_*18del) c.832_838del (p.Ser278ArgfsTer22) c.372_378del (n.372_378del) | gnomAD v4 |
| 3 | g.190409951C>A | CA355768497 | CLDN16 | c.623C>A (p.Ser208Ter) c.*13C>A (n.*13C>A) c.833C>A (p.Ser278Ter) c.373C>A (n.373C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.190409951C= | CA1428764529 | CLDN16 | c.623C= (p.Ser208=) c.*13C= (n.*13C=) c.833C= (p.Ser278=) c.373C= (n.373C=) | |
| 3 | g.190409951C>G | CA355768498 | CLDN16 | c.623C>G (p.Ser208Ter) c.*13C>G (n.*13C>G) c.833C>G (p.Ser278Ter) c.373C>G (n.373C>G) | |
| 3 | g.190409951C>T | CA355768499 | CLDN16 | c.623C>T (p.Ser208Leu) c.*13C>T (n.*13C>T) c.833C>T (p.Ser278Leu) c.373C>T (n.373C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190409952A>C | CA437418655 | CLDN16 | c.624A>C (p.Ser208=) c.*14A>C (n.*14A>C) c.834A>C (p.Ser278=) c.374A>C (n.374A>C) | |
| 3 | g.190409952A>G | CA437418656 | CLDN16 | c.624A>G (p.Ser208=) c.*14A>G (n.*14A>G) c.834A>G (p.Ser278=) c.374A>G (n.374A>G) | |
| 3 | g.190409952A>T | CA437418657 | CLDN16 | c.624A>T (p.Ser208=) c.*14A>T (n.*14A>T) c.834A>T (p.Ser278=) c.374A>T (n.374A>T) | |
| 3 | g.190409953G>A | CA355768500 | CLDN16 | c.625G>A (p.Ala209Thr) c.*15G>A (n.*15G>A) c.835G>A (p.Ala279Thr) c.375G>A (n.375G>A) | |
| 3 | g.190409953G>C | CA355768501 | CLDN16 | c.625G>C (p.Ala209Pro) c.*15G>C (n.*15G>C) c.835G>C (p.Ala279Pro) c.375G>C (n.375G>C) | |
| 3 | g.190409953G>T | CA355768503 | CLDN16 | c.625G>T (p.Ala209Ser) c.*15G>T (n.*15G>T) c.835G>T (p.Ala279Ser) c.375G>T (n.375G>T) | |
| 3 | g.190409954C>A | CA2753921 | CLDN16 | c.626C>A (p.Ala209Asp) c.*16C>A (n.*16C>A) c.836C>A (p.Ala279Asp) c.376C>A (n.376C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190409954C= | CA1428764534 | CLDN16 | c.626C= (p.Ala209=) c.*16C= (n.*16C=) c.836C= (p.Ala279=) c.376C= (n.376C=) | |
| 3 | g.190409954C>G | CA355768507 | CLDN16 | c.626C>G (p.Ala209Gly) c.*16C>G (n.*16C>G) c.836C>G (p.Ala279Gly) c.376C>G (n.376C>G) | |
| 3 | g.190409954C>T | CA355768508 | CLDN16 | c.626C>T (p.Ala209Val) c.*16C>T (n.*16C>T) c.836C>T (p.Ala279Val) c.376C>T (n.376C>T) | |
| 3 | g.190409955C>A | CA437418658 | CLDN16 | c.627C>A (p.Ala209=) c.*17C>A (n.*17C>A) c.837C>A (p.Ala279=) c.377C>A (n.377C>A) | |
| 3 | g.190409955C= | CA1428764538 | CLDN16 | c.627C= (p.Ala209=) c.*17C= (n.*17C=) c.837C= (p.Ala279=) c.377C= (n.377C=) | |
| 3 | g.190409955C>G | CA437418659 | CLDN16 | c.627C>G (p.Ala209=) c.*17C>G (n.*17C>G) c.837C>G (p.Ala279=) c.377C>G (n.377C>G) | |
| 3 | g.190409955C>T | CA2753922 | CLDN16 | c.627C>T (p.Ala209=) c.*17C>T (n.*17C>T) c.837C>T (p.Ala279=) c.377C>T (n.377C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190409956G>A | CA2753923 | CLDN16 | c.628G>A (p.Ala210Thr) c.*18G>A (n.*18G>A) c.838G>A (p.Ala280Thr) c.378G>A (n.378G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.190409956G>C | CA355768512 | CLDN16 | c.628G>C (p.Ala210Pro) c.*18G>C (n.*18G>C) c.838G>C (p.Ala280Pro) c.378G>C (n.378G>C) | |
| 3 | g.190409956G= | CA1428764541 | CLDN16 | c.628G= (p.Ala210=) c.*18G= (n.*18G=) c.838G= (p.Ala280=) c.378G= (n.378G=) | |
| 3 | g.190409956G>T | CA355768515 | CLDN16 | c.628G>T (p.Ala210Ser) c.*18G>T (n.*18G>T) c.838G>T (p.Ala280Ser) c.378G>T (n.378G>T) | |
| 3 | g.190409957C>A | CA355768516 | CLDN16 | c.629C>A (p.Ala210Glu) c.*19C>A (n.*19C>A) c.839C>A (p.Ala280Glu) c.379C>A (n.379C>A) | |
| 3 | g.190409957C= | CA1428764545 | CLDN16 | c.629C= (p.Ala210=) c.*19C= (n.*19C=) c.839C= (p.Ala280=) c.379C= (n.379C=) | |
| 3 | g.190409957C>G | CA355768518 | CLDN16 | c.629C>G (p.Ala210Gly) c.*19C>G (n.*19C>G) c.839C>G (p.Ala280Gly) c.379C>G (n.379C>G) | |
| 3 | g.190409957C>T | CA355768521 | CLDN16 | c.629C>T (p.Ala210Val) c.*19C>T (n.*19C>T) c.839C>T (p.Ala280Val) c.379C>T (n.379C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.190409958G>A | CA2753924 | CLDN16 | c.630G>A (p.Ala210=) c.*20G>A (n.*20G>A) c.840G>A (p.Ala280=) c.380G>A (n.380G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190409958G>C | CA437418660 | CLDN16 | c.630G>C (p.Ala210=) c.*20G>C (n.*20G>C) c.840G>C (p.Ala280=) c.380G>C (n.380G>C) | gnomAD v4 |
| 3 | g.190409958G= | CA1428764546 | CLDN16 | c.630G= (p.Ala210=) c.*20G= (n.*20G=) c.840G= (p.Ala280=) c.380G= (n.380G=) | |
| 3 | g.190409958G>T | CA437418661 | CLDN16 | c.630G>T (p.Ala210=) c.*20G>T (n.*20G>T) c.840G>T (p.Ala280=) c.380G>T (n.380G>T) | |
| 3 | g.190409959G>A | CA355768526 | CLDN16 | c.631G>A (p.Gly211Ser) c.*21G>A (n.*21G>A) c.841G>A (p.Gly281Ser) c.381G>A (n.381G>A) | |
| 3 | g.190409959G>C | CA355768528 | CLDN16 | c.631G>C (p.Gly211Arg) c.*21G>C (n.*21G>C) c.841G>C (p.Gly281Arg) c.381G>C (n.381G>C) | |
| 3 | g.190409959G>T | CA355768539 | CLDN16 | c.631G>T (p.Gly211Cys) c.*21G>T (n.*21G>T) c.841G>T (p.Gly281Cys) c.381G>T (n.381G>T) | |
| 3 | g.190409960G>A | CA355768542 | CLDN16 | c.632G>A (p.Gly211Asp) c.*22G>A (n.*22G>A) c.842G>A (p.Gly281Asp) c.382G>A (n.382G>A) | gnomAD v4 |
| 3 | g.190409960G>C | CA355768544 | CLDN16 | c.632G>C (p.Gly211Ala) c.*22G>C (n.*22G>C) c.842G>C (p.Gly281Ala) c.382G>C (n.382G>C) | |
| 3 | g.190409960G>T | CA355768545 | CLDN16 | c.632G>T (p.Gly211Val) c.*22G>T (n.*22G>T) c.842G>T (p.Gly281Val) c.382G>T (n.382G>T) | gnomAD v4 |
| 3 | g.190409961T>A | CA437418662 | CLDN16 | c.633T>A (p.Gly211=) c.*23T>A (n.*23T>A) c.843T>A (p.Gly281=) c.383T>A (n.383T>A) | |
| 3 | g.190409961T>C | CA437418663 | CLDN16 | c.633T>C (p.Gly211=) c.*23T>C (n.*23T>C) c.843T>C (p.Gly281=) c.383T>C (n.383T>C) | |
| 3 | g.190409961T>G | CA437418664 | CLDN16 | c.633T>G (p.Gly211=) c.*23T>G (n.*23T>G) c.843T>G (p.Gly281=) c.383T>G (n.383T>G) | |
| 3 | g.190409962G>A | CA2753925 | CLDN16 | c.634G>A (p.Val212Ile) c.*24G>A (n.*24G>A) c.844G>A (p.Val282Ile) c.384G>A (n.384G>A) | dbSNP ExAC gnomAD v2 |
| 3 | g.190409962G>C | CA355768547 | CLDN16 | c.634G>C (p.Val212Leu) c.*24G>C (n.*24G>C) c.844G>C (p.Val282Leu) c.384G>C (n.384G>C) | |
| 3 | g.190409962G= | CA1428764547 | CLDN16 | c.634G= (p.Val212=) c.*24G= (n.*24G=) c.844G= (p.Val282=) c.384G= (n.384G=) | |
| 3 | g.190409962G>T | CA355768546 | CLDN16 | c.634G>T (p.Val212Phe) c.*24G>T (n.*24G>T) c.844G>T (p.Val282Phe) c.384G>T (n.384G>T) | |
| 3 | g.190409963T>A | CA355768548 | CLDN16 | c.635T>A (p.Val212Asp) c.*25T>A (n.*25T>A) c.845T>A (p.Val282Asp) c.385T>A (n.385T>A) | |
| 3 | g.190409963T>C | CA2753926 | CLDN16 | c.635T>C (p.Val212Ala) c.*25T>C (n.*25T>C) c.845T>C (p.Val282Ala) c.385T>C (n.385T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.190409963T>G | CA355768552 | CLDN16 | c.635T>G (p.Val212Gly) c.*25T>G (n.*25T>G) c.845T>G (p.Val282Gly) c.385T>G (n.385T>G) | |
| 3 | g.190409963T= | CA1428764549 | CLDN16 | c.635T= (p.Val212=) c.*25T= (n.*25T=) c.845T= (p.Val282=) c.385T= (n.385T=) | |
| 3 | g.190409964T>A | CA437418667 | CLDN16 | c.636T>A (p.Val212=) c.*26T>A (n.*26T>A) c.846T>A (p.Val282=) c.386T>A (n.386T>A) | |
| 3 | g.190409964T>C | CA437418665 | CLDN16 | c.636T>C (p.Val212=) c.*26T>C (n.*26T>C) c.846T>C (p.Val282=) c.386T>C (n.386T>C) | |
| 3 | g.190409964T>G | CA437418666 | CLDN16 | c.636T>G (p.Val212=) c.*26T>G (n.*26T>G) c.846T>G (p.Val282=) c.386T>G (n.386T>G) | |
| 3 | g.190409965T>A | CA355768557 | CLDN16 | c.637T>A (p.Ser213Thr) c.*27T>A (n.*27T>A) c.847T>A (p.Ser283Thr) c.387T>A (n.387T>A) | |
| 3 | g.190409965T>C | CA355768559 | CLDN16 | c.637T>C (p.Ser213Pro) c.*27T>C (n.*27T>C) c.847T>C (p.Ser283Pro) c.387T>C (n.387T>C) | |
| 3 | g.190409965T>G | CA355768560 | CLDN16 | c.637T>G (p.Ser213Ala) c.*27T>G (n.*27T>G) c.847T>G (p.Ser283Ala) c.387T>G (n.387T>G) | gnomAD v4 |
| 3 | g.190409966C>A | CA2753927 | CLDN16 | c.638C>A (p.Ser213Tyr) c.*28C>A (n.*28C>A) c.848C>A (p.Ser283Tyr) c.388C>A (n.388C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190409966C= | CA1428764551 | CLDN16 | c.638C= (p.Ser213=) c.*28C= (n.*28C=) c.848C= (p.Ser283=) c.388C= (n.388C=) | |
| 3 | g.190409966C>G | CA355768564 | CLDN16 | c.638C>G (p.Ser213Cys) c.*28C>G (n.*28C>G) c.848C>G (p.Ser283Cys) c.388C>G (n.388C>G) | |
| 3 | g.190409966C>T | CA355768567 | CLDN16 | c.638C>T (p.Ser213Phe) c.*28C>T (n.*28C>T) c.848C>T (p.Ser283Phe) c.388C>T (n.388C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190409967del | CA2704857276 | CLDN16 | c.639del (p.Met214TrpfsTer18) c.*29del (n.*29del) c.849del (p.Met284TrpfsTer18) c.389del (n.389del) | dbSNP |
| 3 | g.190409967C>A | CA437418668 | CLDN16 | c.639C>A (p.Ser213=) c.*29C>A (n.*29C>A) c.849C>A (p.Ser283=) c.389C>A (n.389C>A) | |
| 3 | g.190409967C= | CA1428764554 | CLDN16 | c.639C= (p.Ser213=) c.*29C= (n.*29C=) c.849C= (p.Ser283=) c.389C= (n.389C=) | |
| 3 | g.190409967C>G | CA437418669 | CLDN16 | c.639C>G (p.Ser213=) c.*29C>G (n.*29C>G) c.849C>G (p.Ser283=) c.389C>G (n.389C>G) | |
| 3 | g.190409967C>T | CA2753928 | CLDN16 | c.639C>T (p.Ser213=) c.*29C>T (n.*29C>T) c.849C>T (p.Ser283=) c.389C>T (n.389C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.190409968A= | CA1428764556 | CLDN16 | c.640A= (p.Met214=) c.*30A= (n.*30A=) c.850A= (p.Met284=) c.390A= (n.390A=) | |
| 3 | g.190409968A>C | CA355768576 | CLDN16 | c.640A>C (p.Met214Leu) c.*30A>C (n.*30A>C) c.850A>C (p.Met284Leu) c.390A>C (n.390A>C) | |
| 3 | g.190409968A>G | CA355768574 | CLDN16 | c.640A>G (p.Met214Val) c.*30A>G (n.*30A>G) c.850A>G (p.Met284Val) c.390A>G (n.390A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190409968A>T | CA355768572 | CLDN16 | c.640A>T (p.Met214Leu) c.*30A>T (n.*30A>T) c.850A>T (p.Met284Leu) c.390A>T (n.390A>T) | |
| 3 | g.190409969T>A | CA355768579 | CLDN16 | c.641T>A (p.Met214Lys) c.*31T>A (n.*31T>A) c.851T>A (p.Met284Lys) c.391T>A (n.391T>A) | |
| 3 | g.190409969T>C | CA355768581 | CLDN16 | c.641T>C (p.Met214Thr) c.*31T>C (n.*31T>C) c.851T>C (p.Met284Thr) c.391T>C (n.391T>C) | ClinVar gnomAD v4 |
| 3 | g.190409969T>G | CA355768587 | CLDN16 | c.641T>G (p.Met214Arg) c.*31T>G (n.*31T>G) c.851T>G (p.Met284Arg) c.391T>G (n.391T>G) | |
| 3 | g.190409970G>A | CA355768590 | CLDN16 | c.642G>A (p.Met214Ile) c.*32G>A (n.*32G>A) c.852G>A (p.Met284Ile) c.392G>A (n.392G>A) | |
| 3 | g.190409970G>C | CA355768592 | CLDN16 | c.642G>C (p.Met214Ile) c.*32G>C (n.*32G>C) c.852G>C (p.Met284Ile) c.392G>C (n.392G>C) | |
| 3 | g.190409970G>T | CA355768594 | CLDN16 | c.642G>T (p.Met214Ile) c.*32G>T (n.*32G>T) c.852G>T (p.Met284Ile) c.392G>T (n.392G>T) | |
| 3 | g.190409971G>A | CA355768597 | CLDN16 | c.643G>A (p.Ala215Thr) c.*33G>A (n.*33G>A) c.853G>A (p.Ala285Thr) c.393G>A (n.393G>A) | gnomAD v4 |
| 3 | g.190409971G>C | CA355768600 | CLDN16 | c.643G>C (p.Ala215Pro) c.*33G>C (n.*33G>C) c.853G>C (p.Ala285Pro) c.393G>C (n.393G>C) | |
| 3 | g.190409971G>T | CA355768602 | CLDN16 | c.643G>T (p.Ala215Ser) c.*33G>T (n.*33G>T) c.853G>T (p.Ala285Ser) c.393G>T (n.393G>T) | gnomAD v4 |
| 3 | g.190409972C>A | CA355768604 | CLDN16 | c.644C>A (p.Ala215Asp) c.*34C>A (n.*34C>A) c.854C>A (p.Ala285Asp) c.394C>A (n.394C>A) | |
| 3 | g.190409972C>G | CA355768605 | CLDN16 | c.644C>G (p.Ala215Gly) c.*34C>G (n.*34C>G) c.854C>G (p.Ala285Gly) c.394C>G (n.394C>G) | |
| 3 | g.190409972C>T | CA355768611 | CLDN16 | c.644C>T (p.Ala215Val) c.*34C>T (n.*34C>T) c.854C>T (p.Ala285Val) c.394C>T (n.394C>T) | |
| 3 | g.190409973C>A | CA437418670 | CLDN16 | c.645C>A (p.Ala215=) c.*35C>A (n.*35C>A) c.855C>A (p.Ala285=) c.395C>A (n.395C>A) | |
| 3 | g.190409973C>G | CA437418671 | CLDN16 | c.645C>G (p.Ala215=) c.*35C>G (n.*35C>G) c.855C>G (p.Ala285=) c.395C>G (n.395C>G) | gnomAD v4 |
| 3 | g.190409973C>T | CA437418672 | CLDN16 | c.645C>T (p.Ala215=) c.*35C>T (n.*35C>T) c.855C>T (p.Ala285=) c.395C>T (n.395C>T) | gnomAD v4 |
| 3 | g.190409974A>C | CA355768614 | CLDN16 | c.646A>C (p.Lys216Gln) c.*36A>C (n.*36A>C) c.856A>C (p.Lys286Gln) c.396A>C (n.396A>C) | |
| 3 | g.190409974A>G | CA355768615 | CLDN16 | c.646A>G (p.Lys216Glu) c.*36A>G (n.*36A>G) c.856A>G (p.Lys286Glu) c.396A>G (n.396A>G) | |
| 3 | g.190409974A>T | CA355768613 | CLDN16 | c.646A>T (p.Lys216Ter) c.*36A>T (n.*36A>T) c.856A>T (p.Lys286Ter) c.396A>T (n.396A>T) | |
| 3 | g.190409975A>C | CA355768619 | CLDN16 | c.647A>C (p.Lys216Thr) c.*37A>C (n.*37A>C) c.857A>C (p.Lys286Thr) c.397A>C (n.397A>C) | COSMIC |
| 3 | g.190409975A>G | CA355768616 | CLDN16 | c.647A>G (p.Lys216Arg) c.*37A>G (n.*37A>G) c.857A>G (p.Lys286Arg) c.397A>G (n.397A>G) | |
| 3 | g.190409975A>T | CA355768617 | CLDN16 | c.647A>T (p.Lys216Met) c.*37A>T (n.*37A>T) c.857A>T (p.Lys286Met) c.397A>T (n.397A>T) | |
| 3 | g.190409976G>A | CA437418673 | CLDN16 | c.648G>A (p.Lys216=) c.*38G>A (n.*38G>A) c.858G>A (p.Lys286=) c.398G>A (n.398G>A) | |
| 3 | g.190409976G>C | CA355768623 | CLDN16 | c.648G>C (p.Lys216Asn) c.*38G>C (n.*38G>C) c.858G>C (p.Lys286Asn) c.398G>C (n.398G>C) | |
| 3 | g.190409976G>T | CA355768624 | CLDN16 | c.648G>T (p.Lys216Asn) c.*38G>T (n.*38G>T) c.858G>T (p.Lys286Asn) c.398G>T (n.398G>T) | gnomAD v4 |
| 3 | g.190409977T>A | CA355768626 | CLDN16 | c.649T>A (p.Ser217Thr) c.*39T>A (n.*39T>A) c.859T>A (p.Ser287Thr) c.399T>A (n.399T>A) | |
| 3 | g.190409977T>C | CA355768629 | CLDN16 | c.649T>C (p.Ser217Pro) c.*39T>C (n.*39T>C) c.859T>C (p.Ser287Pro) c.399T>C (n.399T>C) | |
| 3 | g.190409977T>G | CA355768631 | CLDN16 | c.649T>G (p.Ser217Ala) c.*39T>G (n.*39T>G) c.859T>G (p.Ser287Ala) c.399T>G (n.399T>G) | |
| 3 | g.190409978C>A | CA355768632 | CLDN16 | c.650C>A (p.Ser217Ter) c.*40C>A (n.*40C>A) c.860C>A (p.Ser287Ter) c.400C>A (n.400C>A) | |
| 3 | g.190409978C>G | CA355768635 | CLDN16 | c.650C>G (p.Ser217Ter) c.*40C>G (n.*40C>G) c.860C>G (p.Ser287Ter) c.400C>G (n.400C>G) | |
| 3 | g.190409978C>T | CA355768636 | CLDN16 | c.650C>T (p.Ser217Leu) c.*40C>T (n.*40C>T) c.860C>T (p.Ser287Leu) c.400C>T (n.400C>T) | |
| 3 | g.190409979A>C | CA437418674 | CLDN16 | c.651A>C (p.Ser217=) c.*41A>C (n.*41A>C) c.861A>C (p.Ser287=) c.401A>C (n.401A>C) | |
| 3 | g.190409979A>G | CA437418675 | CLDN16 | c.651A>G (p.Ser217=) c.*41A>G (n.*41A>G) c.861A>G (p.Ser287=) c.401A>G (n.401A>G) | COSMIC |
| 3 | g.190409979A>T | CA437418676 | CLDN16 | c.651A>T (p.Ser217=) c.*41A>T (n.*41A>T) c.861A>T (p.Ser287=) c.401A>T (n.401A>T) | |
| 3 | g.190409980T>A | CA355768638 | CLDN16 | c.652T>A (p.Tyr218Asn) c.*42T>A (n.*42T>A) c.862T>A (p.Tyr288Asn) c.402T>A (n.402T>A) | |
| 3 | g.190409980T>C | CA355768642 | CLDN16 | c.652T>C (p.Tyr218His) c.*42T>C (n.*42T>C) c.862T>C (p.Tyr288His) c.402T>C (n.402T>C) | gnomAD v4 |
| 3 | g.190409980T>G | CA355768644 | CLDN16 | c.652T>G (p.Tyr218Asp) c.*42T>G (n.*42T>G) c.862T>G (p.Tyr288Asp) c.402T>G (n.402T>G) | |
| 3 | g.190409981A>C | CA355768646 | CLDN16 | c.653A>C (p.Tyr218Ser) c.*43A>C (n.*43A>C) c.863A>C (p.Tyr288Ser) c.403A>C (n.403A>C) | |
| 3 | g.190409981A>G | CA355768650 | CLDN16 | c.653A>G (p.Tyr218Cys) c.*43A>G (n.*43A>G) c.863A>G (p.Tyr288Cys) c.403A>G (n.403A>G) | |
| 3 | g.190409981A>T | CA355768648 | CLDN16 | c.653A>T (p.Tyr218Phe) c.*43A>T (n.*43A>T) c.863A>T (p.Tyr288Phe) c.403A>T (n.403A>T) | |
| 3 | g.190409982C>A | CA355768655 | CLDN16 | c.654C>A (p.Tyr218Ter) c.*44C>A (n.*44C>A) c.864C>A (p.Tyr288Ter) c.404C>A (n.404C>A) | |
| 3 | g.190409982C>G | CA355768657 | CLDN16 | c.654C>G (p.Tyr218Ter) c.*44C>G (n.*44C>G) c.864C>G (p.Tyr288Ter) c.404C>G (n.404C>G) | |
| 3 | g.190409982C>T | CA437418677 | CLDN16 | c.654C>T (p.Tyr218=) c.*44C>T (n.*44C>T) c.864C>T (p.Tyr288=) c.404C>T (n.404C>T) | |
| 3 | g.190409983T>A | CA355768660 | CLDN16 | c.655T>A (p.Ser219Thr) c.*45T>A (n.*45T>A) c.865T>A (p.Ser289Thr) c.405T>A (n.405T>A) | |
| 3 | g.190409983T>C | CA2753929 | CLDN16 | c.655T>C (p.Ser219Pro) c.*45T>C (n.*45T>C) c.865T>C (p.Ser289Pro) c.405T>C (n.405T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190409983T>G | CA355768663 | CLDN16 | c.655T>G (p.Ser219Ala) c.*45T>G (n.*45T>G) c.865T>G (p.Ser289Ala) c.405T>G (n.405T>G) | |
| 3 | g.190409983T= | CA1428764558 | CLDN16 | c.655T= (p.Ser219=) c.*45T= (n.*45T=) c.865T= (p.Ser289=) c.405T= (n.405T=) | |
| 3 | g.190409984C>A | CA355768666 | CLDN16 | c.656C>A (p.Ser219Ter) c.*46C>A (n.*46C>A) c.866C>A (p.Ser289Ter) c.406C>A (n.406C>A) | |
| 3 | g.190409984C>G | CA355768669 | CLDN16 | c.656C>G (p.Ser219Ter) c.*46C>G (n.*46C>G) c.866C>G (p.Ser289Ter) c.406C>G (n.406C>G) | |
| 3 | g.190409984C>T | CA355768671 | CLDN16 | c.656C>T (p.Ser219Leu) c.*46C>T (n.*46C>T) c.866C>T (p.Ser289Leu) c.406C>T (n.406C>T) | |
| 3 | g.190409985A>C | CA437418680 | CLDN16 | c.657A>C (p.Ser219=) c.*47A>C (n.*47A>C) c.867A>C (p.Ser289=) c.407A>C (n.407A>C) | |
| 3 | g.190409985A>G | CA437418678 | CLDN16 | c.657A>G (p.Ser219=) c.*47A>G (n.*47A>G) c.867A>G (p.Ser289=) c.407A>G (n.407A>G) | |
| 3 | g.190409985A>T | CA437418679 | CLDN16 | c.657A>T (p.Ser219=) c.*47A>T (n.*47A>T) c.867A>T (p.Ser289=) c.407A>T (n.407A>T) | |
| 3 | g.190409986G>A | CA355768678 | CLDN16 | c.658G>A (p.Ala220Thr) c.*48G>A (n.*48G>A) c.868G>A (p.Ala290Thr) c.408G>A (n.408G>A) | |
| 3 | g.190409986G>C | CA355768680 | CLDN16 | c.658G>C (p.Ala220Pro) c.*48G>C (n.*48G>C) c.868G>C (p.Ala290Pro) c.408G>C (n.408G>C) | |
| 3 | g.190409986G>T | CA355768682 | CLDN16 | c.658G>T (p.Ala220Ser) c.*48G>T (n.*48G>T) c.868G>T (p.Ala290Ser) c.408G>T (n.408G>T) | COSMIC |
| 3 | g.190409987C>A | CA355768684 | CLDN16 | c.659C>A (p.Ala220Asp) c.*49C>A (n.*49C>A) c.869C>A (p.Ala290Asp) c.409C>A (n.409C>A) | |
| 3 | g.190409987C= | CA1428764564 | CLDN16 | c.659C= (p.Ala220=) c.*49C= (n.*49C=) c.869C= (p.Ala290=) c.409C= (n.409C=) | |
| 3 | g.190409987C>G | CA355768686 | CLDN16 | c.659C>G (p.Ala220Gly) c.*49C>G (n.*49C>G) c.869C>G (p.Ala290Gly) c.409C>G (n.409C>G) | |
| 3 | g.190409987C>T | CA2753930 | CLDN16 | c.659C>T (p.Ala220Val) c.*49C>T (n.*49C>T) c.869C>T (p.Ala290Val) c.409C>T (n.409C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190409988C>A | CA437418681 | CLDN16 | c.660C>A (p.Ala220=) c.*50C>A (n.*50C>A) c.870C>A (p.Ala290=) c.410C>A (n.410C>A) | |
| 3 | g.190409988C>G | CA437418682 | CLDN16 | c.660C>G (p.Ala220=) c.*50C>G (n.*50C>G) c.870C>G (p.Ala290=) c.410C>G (n.410C>G) | |
| 3 | g.190409988C>T | CA437418683 | CLDN16 | c.660C>T (p.Ala220=) c.*50C>T (n.*50C>T) c.870C>T (p.Ala290=) c.410C>T (n.410C>T) | |
| 3 | g.190409989C>A | CA355768688 | CLDN16 | c.661C>A (p.Pro221Thr) c.*51C>A (n.*51C>A) c.871C>A (p.Pro291Thr) c.411C>A (n.411C>A) | |
| 3 | g.190409989C= | CA1428764569 | CLDN16 | c.661C= (p.Pro221=) c.*51C= (n.*51C=) c.871C= (p.Pro291=) c.411C= (n.411C=) | |
| 3 | g.190409989C>G | CA355768690 | CLDN16 | c.661C>G (p.Pro221Ala) c.*51C>G (n.*51C>G) c.871C>G (p.Pro291Ala) c.411C>G (n.411C>G) | dbSNP |
| 3 | g.190409989C>T | CA355768692 | CLDN16 | c.661C>T (p.Pro221Ser) c.*51C>T (n.*51C>T) c.871C>T (p.Pro291Ser) c.411C>T (n.411C>T) | COSMIC |
| 3 | g.190409990C>A | CA355768693 | CLDN16 | c.662C>A (p.Pro221His) c.*52C>A (n.*52C>A) c.872C>A (p.Pro291His) c.412C>A (n.412C>A) | |
| 3 | g.190409990C= | CA1428764573 | CLDN16 | c.662C= (p.Pro221=) c.*52C= (n.*52C=) c.872C= (p.Pro291=) c.412C= (n.412C=) | |
| 3 | g.190409990C>G | CA2753931 | CLDN16 | c.662C>G (p.Pro221Arg) c.*52C>G (n.*52C>G) c.872C>G (p.Pro291Arg) c.412C>G (n.412C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190409990C>T | CA355768695 | CLDN16 | c.662C>T (p.Pro221Leu) c.*52C>T (n.*52C>T) c.872C>T (p.Pro291Leu) c.412C>T (n.412C>T) | |
| 3 | g.190409991T>A | CA437418685 | CLDN16 | c.663T>A (p.Pro221=) c.*53T>A (n.*53T>A) c.873T>A (p.Pro291=) c.413T>A (n.413T>A) | |
| 3 | g.190409991T>C | CA437418684 | CLDN16 | c.663T>C (p.Pro221=) c.*53T>C (n.*53T>C) c.873T>C (p.Pro291=) c.413T>C (n.413T>C) | |
| 3 | g.190409991T>G | CA437418686 | CLDN16 | c.663T>G (p.Pro221=) c.*53T>G (n.*53T>G) c.873T>G (p.Pro291=) c.413T>G (n.413T>G) | |
| 3 | g.190409992C>A | CA355768698 | CLDN16 | c.664C>A (p.Arg222Ser) c.*54C>A (n.*54C>A) c.874C>A (p.Arg292Ser) c.414C>A (n.414C>A) | |
| 3 | g.190409992C= | CA1428764577 | CLDN16 | c.664C= (p.Arg222=) c.*54C= (n.*54C=) c.874C= (p.Arg292=) c.414C= (n.414C=) | |
| 3 | g.190409992C>G | CA355768699 | CLDN16 | c.664C>G (p.Arg222Gly) c.*54C>G (n.*54C>G) c.874C>G (p.Arg292Gly) c.414C>G (n.414C>G) | |
| 3 | g.190409992C>T | CA2753932 | CLDN16 | c.664C>T (p.Arg222Cys) c.*54C>T (n.*54C>T) c.874C>T (p.Arg292Cys) c.414C>T (n.414C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190409993G>A | CA2753933 | CLDN16 | c.665G>A (p.Arg222His) c.*55G>A (n.*55G>A) c.875G>A (p.Arg292His) c.415G>A (n.415G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.190409993G>C | CA355768700 | CLDN16 | c.665G>C (p.Arg222Pro) c.*55G>C (n.*55G>C) c.875G>C (p.Arg292Pro) c.415G>C (n.415G>C) | gnomAD v4 |
| 3 | g.190409993G= | CA1428764580 | CLDN16 | c.665G= (p.Arg222=) c.*55G= (n.*55G=) c.875G= (p.Arg292=) c.415G= (n.415G=) | |
| 3 | g.190409993G>T | CA355768702 | CLDN16 | c.665G>T (p.Arg222Leu) c.*55G>T (n.*55G>T) c.875G>T (p.Arg292Leu) c.415G>T (n.415G>T) | dbSNP |
| 3 | g.190409994C>A | CA437418687 | CLDN16 | c.666C>A (p.Arg222=) c.*56C>A (n.*56C>A) c.876C>A (p.Arg292=) c.416C>A (n.416C>A) | |
| 3 | g.190409994C>G | CA437418689 | CLDN16 | c.666C>G (p.Arg222=) c.*56C>G (n.*56C>G) c.876C>G (p.Arg292=) c.416C>G (n.416C>G) | |
| 3 | g.190409994C>T | CA437418688 | CLDN16 | c.666C>T (p.Arg222=) c.*56C>T (n.*56C>T) c.876C>T (p.Arg292=) c.416C>T (n.416C>T) | |
| 3 | g.190409996_190409997del | CA2669041939 | CLDN16 | c.668_669del (p.Thr223ArgfsTer?) c.*58_*59del (n.*58_*59del) c.878_879del (p.Thr293ArgfsTer?) c.418_419del (n.418_419del) | gnomAD v4 |
| 3 | g.190409995A>C | CA355768706 | CLDN16 | c.667A>C (p.Thr223Pro) c.*57A>C (n.*57A>C) c.877A>C (p.Thr293Pro) c.417A>C (n.417A>C) | |
| 3 | g.190409995A>G | CA355768713 | CLDN16 | c.667A>G (p.Thr223Ala) c.*57A>G (n.*57A>G) c.877A>G (p.Thr293Ala) c.417A>G (n.417A>G) | gnomAD v4 |
| 3 | g.190409995A>T | CA355768704 | CLDN16 | c.667A>T (p.Thr223Ser) c.*57A>T (n.*57A>T) c.877A>T (p.Thr293Ser) c.417A>T (n.417A>T) | |
| 3 | g.190409996C>A | CA355768717 | CLDN16 | c.668C>A (p.Thr223Lys) c.*58C>A (n.*58C>A) c.878C>A (p.Thr293Lys) c.418C>A (n.418C>A) | |
| 3 | g.190409996C= | CA1428764583 | CLDN16 | c.668C= (p.Thr223=) c.*58C= (n.*58C=) c.878C= (p.Thr293=) c.418C= (n.418C=) | |
| 3 | g.190409996C>G | CA355768719 | CLDN16 | c.668C>G (p.Thr223Arg) c.*58C>G (n.*58C>G) c.878C>G (p.Thr293Arg) c.418C>G (n.418C>G) | dbSNP |
| 3 | g.190409996C>T | CA355768721 | CLDN16 | c.668C>T (p.Thr223Ile) c.*58C>T (n.*58C>T) c.878C>T (p.Thr293Ile) c.418C>T (n.418C>T) | |
| 3 | g.190409997A>C | CA437418692 | CLDN16 | c.669A>C (p.Thr223=) c.*59A>C (n.*59A>C) c.879A>C (p.Thr293=) c.419A>C (n.419A>C) | gnomAD v4 |
| 3 | g.190409997A>G | CA437418691 | CLDN16 | c.669A>G (p.Thr223=) c.*59A>G (n.*59A>G) c.879A>G (p.Thr293=) c.419A>G (n.419A>G) | gnomAD v4 |
| 3 | g.190409997A>T | CA437418690 | CLDN16 | c.669A>T (p.Thr223=) c.*59A>T (n.*59A>T) c.879A>T (p.Thr293=) c.419A>T (n.419A>T) | |
| 3 | g.190409998G>A | CA2753934 | CLDN16 | c.670G>A (p.Glu224Lys) c.*60G>A (n.*60G>A) c.880G>A (p.Glu294Lys) c.420G>A (n.420G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190409998G>C | CA355768724 | CLDN16 | c.670G>C (p.Glu224Gln) c.*60G>C (n.*60G>C) c.880G>C (p.Glu294Gln) c.420G>C (n.420G>C) | gnomAD v4 |
| 3 | g.190409998G= | CA1428764589 | CLDN16 | c.670G= (p.Glu224=) c.*60G= (n.*60G=) c.880G= (p.Glu294=) c.420G= (n.420G=) | |
| 3 | g.190409998G>T | CA355768726 | CLDN16 | c.670G>T (p.Glu224Ter) c.*60G>T (n.*60G>T) c.880G>T (p.Glu294Ter) c.420G>T (n.420G>T) | |
| 3 | g.190409999A= | CA1428764596 | CLDN16 | c.671A= (p.Glu224=) c.*61A= (n.*61A=) c.881A= (p.Glu294=) c.421A= (n.421A=) | |
| 3 | g.190409999A>C | CA355768732 | CLDN16 | c.671A>C (p.Glu224Ala) c.*61A>C (n.*61A>C) c.881A>C (p.Glu294Ala) c.421A>C (n.421A>C) | |
| 3 | g.190409999A>G | CA355768728 | CLDN16 | c.671A>G (p.Glu224Gly) c.*61A>G (n.*61A>G) c.881A>G (p.Glu294Gly) c.421A>G (n.421A>G) | dbSNP |
| 3 | g.190409999A>T | CA355768730 | CLDN16 | c.671A>T (p.Glu224Val) c.*61A>T (n.*61A>T) c.881A>T (p.Glu294Val) c.421A>T (n.421A>T) | |
| 3 | g.190410000G>A | CA437418693 | CLDN16 | c.672G>A (p.Glu224=) c.*62G>A (n.*62G>A) c.882G>A (p.Glu294=) c.422G>A (n.422G>A) | ClinVar dbSNP |
| 3 | g.190410000G>C | CA355768734 | CLDN16 | c.672G>C (p.Glu224Asp) c.*62G>C (n.*62G>C) c.882G>C (p.Glu294Asp) c.422G>C (n.422G>C) | |
| 3 | g.190410000G= | CA1428764599 | CLDN16 | c.672G= (p.Glu224=) c.*62G= (n.*62G=) c.882G= (p.Glu294=) c.422G= (n.422G=) | |
| 3 | g.190410000G>T | CA355768736 | CLDN16 | c.672G>T (p.Glu224Asp) c.*62G>T (n.*62G>T) c.882G>T (p.Glu294Asp) c.422G>T (n.422G>T) | |
| 3 | g.190410001A>C | CA355768738 | CLDN16 | c.673A>C (p.Thr225Pro) c.*63A>C (n.*63A>C) c.883A>C (p.Thr295Pro) c.423A>C (n.423A>C) | |
| 3 | g.190410001A>G | CA355768740 | CLDN16 | c.673A>G (p.Thr225Ala) c.*63A>G (n.*63A>G) c.883A>G (p.Thr295Ala) c.423A>G (n.423A>G) | gnomAD v4 |
| 3 | g.190410001A>T | CA355768742 | CLDN16 | c.673A>T (p.Thr225Ser) c.*63A>T (n.*63A>T) c.883A>T (p.Thr295Ser) c.423A>T (n.423A>T) | |
| 3 | g.190410002C>A | CA355768749 | CLDN16 | c.674C>A (p.Thr225Lys) c.*64C>A (n.*64C>A) c.884C>A (p.Thr295Lys) c.424C>A (n.424C>A) | |
| 3 | g.190410002C= | CA1428764605 | CLDN16 | c.674C= (p.Thr225=) c.*64C= (n.*64C=) c.884C= (p.Thr295=) c.424C= (n.424C=) | |
| 3 | g.190410002C>G | CA355768747 | CLDN16 | c.674C>G (p.Thr225Arg) c.*64C>G (n.*64C>G) c.884C>G (p.Thr295Arg) c.424C>G (n.424C>G) | |
| 3 | g.190410002C>T | CA2753935 | CLDN16 | c.674C>T (p.Thr225Met) c.*64C>T (n.*64C>T) c.884C>T (p.Thr295Met) c.424C>T (n.424C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190410003G>A | CA437418694 | CLDN16 | c.675G>A (p.Thr225=) c.*65G>A (n.*65G>A) c.885G>A (p.Thr295=) c.425G>A (n.425G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.190410003G>C | CA437418695 | CLDN16 | c.675G>C (p.Thr225=) c.*65G>C (n.*65G>C) c.885G>C (p.Thr295=) c.425G>C (n.425G>C) | |
| 3 | g.190410003G= | CA1428764607 | CLDN16 | c.675G= (p.Thr225=) c.*65G= (n.*65G=) c.885G= (p.Thr295=) c.425G= (n.425G=) | |
| 3 | g.190410003G>T | CA437418696 | CLDN16 | c.675G>T (p.Thr225=) c.*65G>T (n.*65G>T) c.885G>T (p.Thr295=) c.425G>T (n.425G>T) | dbSNP |
| 3 | g.190410004G>A | CA2753936 | CLDN16 | c.676G>A (p.Ala226Thr) c.*66G>A (n.*66G>A) c.886G>A (p.Ala296Thr) c.426G>A (n.426G>A) | dbSNP ExAC gnomAD v2 |
| 3 | g.190410004G>C | CA355768754 | CLDN16 | c.676G>C (p.Ala226Pro) c.*66G>C (n.*66G>C) c.886G>C (p.Ala296Pro) c.426G>C (n.426G>C) | |
| 3 | g.190410004G= | CA1428764609 | CLDN16 | c.676G= (p.Ala226=) c.*66G= (n.*66G=) c.886G= (p.Ala296=) c.426G= (n.426G=) | |
| 3 | g.190410004G>T | CA355768753 | CLDN16 | c.676G>T (p.Ala226Ser) c.*66G>T (n.*66G>T) c.886G>T (p.Ala296Ser) c.426G>T (n.426G>T) | |
| 3 | g.190410005C>A | CA355768757 | CLDN16 | c.677C>A (p.Ala226Asp) c.*67C>A (n.*67C>A) c.887C>A (p.Ala296Asp) c.427C>A (n.427C>A) | |
| 3 | g.190410005C>G | CA355768761 | CLDN16 | c.677C>G (p.Ala226Gly) c.*67C>G (n.*67C>G) c.887C>G (p.Ala296Gly) c.427C>G (n.427C>G) | |
| 3 | g.190410005C>T | CA355768758 | CLDN16 | c.677C>T (p.Ala226Val) c.*67C>T (n.*67C>T) c.887C>T (p.Ala296Val) c.427C>T (n.427C>T) | gnomAD v4 |
| 3 | g.190410006C>A | CA437418697 | CLDN16 | c.678C>A (p.Ala226=) c.*68C>A (n.*68C>A) c.888C>A (p.Ala296=) c.428C>A (n.428C>A) | |
| 3 | g.190410006C= | CA1428764613 | CLDN16 | c.678C= (p.Ala226=) c.*68C= (n.*68C=) c.888C= (p.Ala296=) c.428C= (n.428C=) | |
| 3 | g.190410006C>G | CA437418698 | CLDN16 | c.678C>G (p.Ala226=) c.*68C>G (n.*68C>G) c.888C>G (p.Ala296=) c.428C>G (n.428C>G) | |
| 3 | g.190410006C>T | CA437418699 | CLDN16 | c.678C>T (p.Ala226=) c.*68C>T (n.*68C>T) c.888C>T (p.Ala296=) c.428C>T (n.428C>T) | dbSNP |
| 3 | g.190410006_190410007delinsCA | CA1428764612 | CLDN16 | c.678_679delinsCA (p.Ala226=) c.*68_*69delinsCA (n.*68_*69delinsCA) c.888_889delinsCA (p.Ala296=) c.428_429delinsCA (n.428_429delinsCA) | |
| 3 | g.190410007A= | CA1428764616 | CLDN16 | c.679A= (p.Lys227=) c.*69A= (n.*69A=) c.889A= (p.Lys297=) c.429A= (n.429A=) | |
| 3 | g.190410007A>C | CA355768763 | CLDN16 | c.679A>C (p.Lys227Gln) c.*69A>C (n.*69A>C) c.889A>C (p.Lys297Gln) c.429A>C (n.429A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190410007A>G | CA355768764 | CLDN16 | c.679A>G (p.Lys227Glu) c.*69A>G (n.*69A>G) c.889A>G (p.Lys297Glu) c.429A>G (n.429A>G) | dbSNP |
| 3 | g.190410007A>T | CA355768765 | CLDN16 | c.679A>T (p.Lys227Ter) c.*69A>T (n.*69A>T) c.889A>T (p.Lys297Ter) c.429A>T (n.429A>T) | |
| 3 | g.190410010del | CA2753937 | CLDN16 | c.682del (p.Met228CysfsTer4) c.892del (p.Met298CysfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190410008A= | CA1428764619 | CLDN16 | c.680A= (p.Lys227=) c.*70A= (n.*70A=) c.890A= (p.Lys297=) c.430A= (n.430A=) | |
| 3 | g.190410008A>C | CA355768767 | CLDN16 | c.680A>C (p.Lys227Thr) c.*70A>C (n.*70A>C) c.890A>C (p.Lys297Thr) c.430A>C (n.430A>C) | |
| 3 | g.190410008A>G | CA355768766 | CLDN16 | c.680A>G (p.Lys227Arg) c.*70A>G (n.*70A>G) c.890A>G (p.Lys297Arg) c.430A>G (n.430A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190410008A>T | CA355768768 | CLDN16 | c.680A>T (p.Lys227Ile) c.*70A>T (n.*70A>T) c.890A>T (p.Lys297Ile) c.430A>T (n.430A>T) | |
| 3 | g.190410009A>C | CA355768770 | CLDN16 | c.681A>C (p.Lys227Asn) c.891A>C (p.Lys297Asn) | |
| 3 | g.190410009A>G | CA437418700 | CLDN16 | c.681A>G (p.Lys227=) c.891A>G (p.Lys297=) | |
| 3 | g.190410009A>T | CA355768772 | CLDN16 | c.681A>T (p.Lys227Asn) c.891A>T (p.Lys297Asn) | |
| 3 | g.190410010A>C | CA355768773 | CLDN16 | c.682A>C (p.Met228Leu) c.892A>C (p.Met298Leu) | gnomAD v4 |
| 3 | g.190410010A>G | CA355768775 | CLDN16 | c.682A>G (p.Met228Val) c.892A>G (p.Met298Val) | |
| 3 | g.190410010A>T | CA355768776 | CLDN16 | c.682A>T (p.Met228Leu) c.892A>T (p.Met298Leu) | |
| 3 | g.190410011T>A | CA355768777 | CLDN16 | c.683T>A (p.Met228Lys) c.893T>A (p.Met298Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190410011T>C | CA355768779 | CLDN16 | c.683T>C (p.Met228Thr) c.893T>C (p.Met298Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190410011T>G | CA355768781 | CLDN16 | c.683T>G (p.Met228Arg) c.893T>G (p.Met298Arg) | |
| 3 | g.190410011T= | CA1428764621 | CLDN16 | c.683T= (p.Met228=) c.893T= (p.Met298=) | |
| 3 | g.190410012G>A | CA355768783 | CLDN16 | c.684G>A (p.Met228Ile) c.894G>A (p.Met298Ile) | |
| 3 | g.190410012G>C | CA355768785 | CLDN16 | c.684G>C (p.Met228Ile) c.894G>C (p.Met298Ile) | |
| 3 | g.190410012G>T | CA355768787 | CLDN16 | c.684G>T (p.Met228Ile) c.894G>T (p.Met298Ile) | |
| 3 | g.190410013T>A | CA355768789 | CLDN16 | c.685T>A (p.Tyr229Asn) c.895T>A (p.Tyr299Asn) | |
| 3 | g.190410013T>C | CA355768791 | CLDN16 | c.685T>C (p.Tyr229His) c.895T>C (p.Tyr299His) | COSMIC |
| 3 | g.190410013T>G | CA355768792 | CLDN16 | c.685T>G (p.Tyr229Asp) c.895T>G (p.Tyr299Asp) | |
| 3 | g.190410014A>C | CA355768794 | CLDN16 | c.686A>C (p.Tyr229Ser) c.896A>C (p.Tyr299Ser) | |
| 3 | g.190410014A>G | CA355768797 | CLDN16 | c.686A>G (p.Tyr229Cys) c.896A>G (p.Tyr299Cys) | |
| 3 | g.190410014A>T | CA355768796 | CLDN16 | c.686A>T (p.Tyr229Phe) c.896A>T (p.Tyr299Phe) | |
| 3 | g.190410015T>A | CA355768800 | CLDN16 | c.687T>A (p.Tyr229Ter) c.897T>A (p.Tyr299Ter) | |
| 3 | g.190410015T>C | CA2753938 | CLDN16 | c.687T>C (p.Tyr229=) c.897T>C (p.Tyr299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190410015T>G | CA355768803 | CLDN16 | c.687T>G (p.Tyr229Ter) c.897T>G (p.Tyr299Ter) | |
| 3 | g.190410015T= | CA1428764626 | CLDN16 | c.687T= (p.Tyr229=) c.897T= (p.Tyr299=) | |
| 3 | g.190410016G>A | CA2753939 | CLDN16 | c.688G>A (p.Ala230Thr) c.898G>A (p.Ala300Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190410016G>C | CA355768805 | CLDN16 | c.688G>C (p.Ala230Pro) c.898G>C (p.Ala300Pro) | |
| 3 | g.190410016G= | CA1428764629 | CLDN16 | c.688G= (p.Ala230=) c.898G= (p.Ala300=) | |
| 3 | g.190410016G>T | CA355768807 | CLDN16 | c.688G>T (p.Ala230Ser) c.898G>T (p.Ala300Ser) | |
| 3 | g.190410017C>A | CA355768808 | CLDN16 | c.689C>A (p.Ala230Asp) c.899C>A (p.Ala300Asp) | |
| 3 | g.190410017C>G | CA355768809 | CLDN16 | c.689C>G (p.Ala230Gly) c.899C>G (p.Ala300Gly) | |
| 3 | g.190410017C>T | CA355768811 | CLDN16 | c.689C>T (p.Ala230Val) c.899C>T (p.Ala300Val) | gnomAD v4 |
| 3 | g.190410018T>A | CA437418701 | CLDN16 | c.690T>A (p.Ala230=) c.900T>A (p.Ala300=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190410018T>C | CA437418702 | CLDN16 | c.690T>C (p.Ala230=) c.900T>C (p.Ala300=) | |
| 3 | g.190410018T>G | CA437418703 | CLDN16 | c.690T>G (p.Ala230=) c.900T>G (p.Ala300=) | |
| 3 | g.190410018T= | CA1428764634 | CLDN16 | c.690T= (p.Ala230=) c.900T= (p.Ala300=) | |
| 3 | g.190410019G>A | CA355768815 | CLDN16 | c.691G>A (p.Val231Ile) c.901G>A (p.Val301Ile) | |
| 3 | g.190410019G>C | CA355768817 | CLDN16 | c.691G>C (p.Val231Leu) c.901G>C (p.Val301Leu) | |
| 3 | g.190410019G>T | CA355768813 | CLDN16 | c.691G>T (p.Val231Leu) c.901G>T (p.Val301Leu) | |
| 3 | g.190410020T>A | CA355768818 | CLDN16 | c.692T>A (p.Val231Glu) c.902T>A (p.Val301Glu) | |
| 3 | g.190410020T>C | CA355768819 | CLDN16 | c.692T>C (p.Val231Ala) c.902T>C (p.Val301Ala) | gnomAD v4 |
| 3 | g.190410020T>G | CA355768820 | CLDN16 | c.692T>G (p.Val231Gly) c.902T>G (p.Val301Gly) | |
| 3 | g.190410021A= | CA1428764636 | CLDN16 | c.693A= (p.Val231=) c.903A= (p.Val301=) | |
| 3 | g.190410021A>C | CA437418704 | CLDN16 | c.693A>C (p.Val231=) c.903A>C (p.Val301=) | |
| 3 | g.190410021A>G | CA437418706 | CLDN16 | c.693A>G (p.Val231=) c.903A>G (p.Val301=) | dbSNP |
| 3 | g.190410021A>T | CA437418705 | CLDN16 | c.693A>T (p.Val231=) c.903A>T (p.Val301=) | |
| 3 | g.190410022G>A | CA355768822 | CLDN16 | c.694G>A (p.Asp232Asn) c.904G>A (p.Asp302Asn) | |
| 3 | g.190410022G>C | CA355768823 | CLDN16 | c.694G>C (p.Asp232His) c.904G>C (p.Asp302His) | COSMIC |
| 3 | g.190410022G>T | CA355768824 | CLDN16 | c.694G>T (p.Asp232Tyr) c.904G>T (p.Asp302Tyr) | |
| 3 | g.190410023A>C | CA355768827 | CLDN16 | c.695A>C (p.Asp232Ala) c.905A>C (p.Asp302Ala) | |
| 3 | g.190410023A>G | CA355768829 | CLDN16 | c.695A>G (p.Asp232Gly) c.905A>G (p.Asp302Gly) | gnomAD v4 |
| 3 | g.190410023A>T | CA355768832 | CLDN16 | c.695A>T (p.Asp232Val) c.905A>T (p.Asp302Val) | |
| 3 | g.190410024C>A | CA355768833 | CLDN16 | c.696C>A (p.Asp232Glu) c.906C>A (p.Asp302Glu) | |
| 3 | g.190410024C>G | CA355768835 | CLDN16 | c.696C>G (p.Asp232Glu) c.906C>G (p.Asp302Glu) | |
| 3 | g.190410024C>T | CA437418707 | CLDN16 | c.696C>T (p.Asp232=) c.906C>T (p.Asp302=) | |
| 3 | g.190410025A= | CA1428764640 | CLDN16 | c.697A= (p.Thr233=) c.907A= (p.Thr303=) | |
| 3 | g.190410025A>C | CA355768839 | CLDN16 | c.697A>C (p.Thr233Pro) c.907A>C (p.Thr303Pro) | |
| 3 | g.190410025A>G | CA2753940 | CLDN16 | c.697A>G (p.Thr233Ala) c.907A>G (p.Thr303Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190410025A>T | CA355768836 | CLDN16 | c.697A>T (p.Thr233Ser) c.907A>T (p.Thr303Ser) | |
| 3 | g.190410026C>A | CA355768841 | CLDN16 | c.698C>A (p.Thr233Lys) c.908C>A (p.Thr303Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.190410026C= | CA1428764646 | CLDN16 | c.698C= (p.Thr233=) c.908C= (p.Thr303=) | |
| 3 | g.190410026C>G | CA117872 | CLDN16 | c.698C>G (p.Thr233Arg) c.908C>G (p.Thr303Arg) | ClinVar dbSNP |
| 3 | g.190410026C>T | CA355768843 | CLDN16 | c.698C>T (p.Thr233Ile) c.908C>T (p.Thr303Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.190410027A= | CA1428764650 | CLDN16 | c.699A= (p.Thr233=) c.909A= (p.Thr303=) | |
| 3 | g.190410027A>C | CA437418708 | CLDN16 | c.699A>C (p.Thr233=) c.909A>C (p.Thr303=) | ClinVar |
| 3 | g.190410027A>G | CA2753941 | CLDN16 | c.699A>G (p.Thr233=) c.909A>G (p.Thr303=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190410027A>T | CA437418709 | CLDN16 | c.699A>T (p.Thr233=) c.909A>T (p.Thr303=) | dbSNP |
| 3 | g.190410028A>C | CA437418710 | CLDN16 | c.700A>C (p.Arg234=) c.910A>C (p.Arg304=) | |
| 3 | g.190410028A>G | CA355768845 | CLDN16 | c.700A>G (p.Arg234Gly) c.910A>G (p.Arg304Gly) | |
| 3 | g.190410028A>T | CA355768847 | CLDN16 | c.700A>T (p.Arg234Trp) c.910A>T (p.Arg304Trp) | |
| 3 | g.190410029G>A | CA355768849 | CLDN16 | c.701G>A (p.Arg234Lys) c.911G>A (p.Arg304Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190410029G>C | CA355768853 | CLDN16 | c.701G>C (p.Arg234Thr) c.911G>C (p.Arg304Thr) | |
| 3 | g.190410029G= | CA1428764653 | CLDN16 | c.701G= (p.Arg234=) c.911G= (p.Arg304=) | |
| 3 | g.190410029G>T | CA355768851 | CLDN16 | c.701G>T (p.Arg234Met) c.911G>T (p.Arg304Met) | |
| 3 | g.190410030G>A | CA437418711 | CLDN16 | c.702G>A (p.Arg234=) c.912G>A (p.Arg304=) | dbSNP |
| 3 | g.190410030G>C | CA355768855 | CLDN16 | c.702G>C (p.Arg234Ser) c.912G>C (p.Arg304Ser) | |
| 3 | g.190410030G= | CA1428764657 | CLDN16 | c.702G= (p.Arg234=) c.912G= (p.Arg304=) | |
| 3 | g.190410030G>T | CA355768859 | CLDN16 | c.702G>T (p.Arg234Ser) c.912G>T (p.Arg304Ser) | |
| 3 | g.190410031G>A | CA355768860 | CLDN16 | c.703G>A (p.Val235Met) c.913G>A (p.Val305Met) | |
| 3 | g.190410031G>C | CA355768862 | CLDN16 | c.703G>C (p.Val235Leu) c.913G>C (p.Val305Leu) | |
| 3 | g.190410031G= | CA1428764660 | CLDN16 | c.703G= (p.Val235=) c.913G= (p.Val305=) | |
| 3 | g.190410031G>T | CA355768865 | CLDN16 | c.703G>T (p.Val235Leu) c.913G>T (p.Val305Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.190410032T>A | CA355768868 | CLDN16 | c.704T>A (p.Val235Glu) c.914T>A (p.Val305Glu) | |
| 3 | g.190410032T>C | CA355768869 | CLDN16 | c.704T>C (p.Val235Ala) c.914T>C (p.Val305Ala) | |
| 3 | g.190410032T>G | CA355768866 | CLDN16 | c.704T>G (p.Val235Gly) c.914T>G (p.Val305Gly) | |
| 3 | g.190410033G>A | CA2753942 | CLDN16 | c.705G>A (p.Val235=) c.915G>A (p.Val305=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190410033G>C | CA437418712 | CLDN16 | c.705G>C (p.Val235=) c.915G>C (p.Val305=) | |
| 3 | g.190410033G= | CA1428764662 | CLDN16 | c.705G= (p.Val235=) c.915G= (p.Val305=) | |
| 3 | g.190410033G>T | CA437418713 | CLDN16 | c.705G>T (p.Val235=) c.915G>T (p.Val305=) | |
| 3 | g.190410034T>A | CA355768873 | CLDN16 | c.706T>A (p.Ter236Lys) c.916T>A (p.Ter306Lys) | |
| 3 | g.190410034T>C | CA355768876 | CLDN16 | c.706T>C (p.Ter236Gln) c.916T>C (p.Ter306Gln) | |
| 3 | g.190410034T>G | CA355768877 | CLDN16 | c.706T>G (p.Ter236Glu) c.916T>G (p.Ter306Glu) | |
| 3 | g.190410035A= | CA1428764664 | CLDN16 | c.707A= (p.Ter236=) c.917A= (p.Ter306=) | |
| 3 | g.190410035A>C | CA355768880 | CLDN16 | c.707A>C (p.Ter236Ser) c.917A>C (p.Ter306Ser) | |
| 3 | g.190410035A>G | CA437418714 | CLDN16 | c.707A>G (p.Ter236=) c.917A>G (p.Ter306=) | dbSNP gnomAD v4 |
| 3 | g.190410035A>T | CA355768881 | CLDN16 | c.707A>T (p.Ter236Leu) c.917A>T (p.Ter306Leu) | |
| 3 | g.190410036A= | CA1428764666 | CLDN16 | c.708A= (p.Ter236=) c.918A= (p.Ter306=) | |
| 3 | g.190410036A>C | CA355768882 | CLDN16 | c.708A>C (p.Ter236Tyr) c.918A>C (p.Ter306Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190410036A>G | CA437418715 | CLDN16 | c.708A>G (p.Ter236=) c.918A>G (p.Ter306=) | gnomAD v4 |
| 3 | g.190410036A>T | CA355768883 | CLDN16 | c.708A>T (p.Ter236Tyr) c.918A>T (p.Ter306Tyr) | |
| 3 | g.190410039T>C | CA2753943 | CLDN16 | c.*3T>C (n.*3T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.190410039T= | CA1428764672 | CLDN16 | c.*3T= (n.*3T=) | |
| 3 | g.190410040G>C | CA2669041945 | CLDN16 | c.*4G>C (n.*4G>C) | gnomAD v4 |
| 3 | g.190410041C= | CA1428764674 | CLDN16 | c.*5C= (n.*5C=) | |
| 3 | g.190410041C>T | CA1428764675 | CLDN16 | c.*5C>T (n.*5C>T) | dbSNP gnomAD v4 |
| 3 | g.190410043C= | CA1428764677 | CLDN16 | c.*7C= (n.*7C=) | |
| 3 | g.190410043C>T | CA548499492 | CLDN16 | c.*7C>T (n.*7C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190410044G>A | CA2753944 | CLDN16 | c.*8G>A (n.*8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190410044G= | CA1428764679 | CLDN16 | c.*8G= (n.*8G=) | |
| 3 | g.190410045T>A | CA548499495 | CLDN16 | c.*9T>A (n.*9T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190410045T= | CA1428764681 | CLDN16 | c.*9T= (n.*9T=) | |
| 3 | g.190410046T>C | CA2704857280 | CLDN16 | c.*10T>C (n.*10T>C) | dbSNP |
| 3 | g.190410047_190410088delinsTCAGGGTGTGTTTGCATATGATTTAATCAATCAGTATGGTTA | CA1428764683 | CLDN16 | c.*11_*52delinsTCAGGGTGTGTTTGCATATGATTTAATCAATCAGTATGGTTA (n.*11_*52delinsTCAGGGTGTGTTTGCATATGATTTAATCAATCAGTATGGTTA) | |
| 3 | g.190410048C= | CA1428764688 | CLDN16 | c.*12C= (n.*12C=) | |
| 3 | g.190410048C>T | CA2753945 | CLDN16 | c.*12C>T (n.*12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190410050_190410090del | CA904261600 | CLDN16 | c.*14_*54del (n.*14_*54del) | dbSNP |
| 3 | g.190410049A= | CA1428764690 | CLDN16 | c.*13A= (n.*13A=) | |
| 3 | g.190410049A>G | CA2753947 | CLDN16 | c.*13A>G (n.*13A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190410049A>T | CA2753946 | CLDN16 | c.*13A>T (n.*13A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |