| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.190408314G>A | CA117861 | CLDN16 | c.593G>A (p.Gly198Asp) c.383G>A (p.Gly128Asp) n.325-1589G>A (p.=) | ClinVar dbSNP gnomAD |
| 3 | g.190408314G>C | CA355766915 | CLDN16 | c.593G>C (p.Gly198Ala) c.383G>C (p.Gly128Ala) n.325-1589G>C (p.=) | |
| 3 | g.190408314G>T | CA355766914 | CLDN16 | c.593G>T (p.Gly198Val) c.383G>T (p.Gly128Val) n.325-1589G>T (p.=) | gnomAD |
| 3 | g.190408315T>A | CA437418524 | CLDN16 | c.594T>A (p.Gly198=) c.384T>A (p.Gly128=) n.325-1588T>A (p.=) | |
| 3 | g.190408315T>C | CA437418525 | CLDN16 | c.594T>C (p.Gly198=) c.384T>C (p.Gly128=) n.325-1588T>C (p.=) | |
| 3 | g.190408315T>G | CA437418526 | CLDN16 | c.594T>G (p.Gly198=) c.384T>G (p.Gly128=) n.325-1588T>G (p.=) | |
| 3 | g.190408316A>C | CA355766918 | CLDN16 | c.595A>C (p.Thr199Pro) c.385A>C (p.Thr129Pro) n.325-1587A>C (p.=) | |
| 3 | g.190408316A>G | CA355766916 | CLDN16 | c.595A>G (p.Thr199Ala) c.385A>G (p.Thr129Ala) n.325-1587A>G (p.=) | |
| 3 | g.190408316A>T | CA355766917 | CLDN16 | c.595A>T (p.Thr199Ser) c.385A>T (p.Thr129Ser) n.325-1587A>T (p.=) | |
| 3 | g.190408317C>A | CA355766919 | CLDN16 | c.596C>A (p.Thr199Asn) c.386C>A (p.Thr129Asn) n.325-1586C>A (p.=) | |
| 3 | g.190408317C>G | CA355766920 | CLDN16 | c.596C>G (p.Thr199Ser) c.386C>G (p.Thr129Ser) n.325-1586C>G (p.=) | |
| 3 | g.190408317C>T | CA355766921 | CLDN16 | c.596C>T (p.Thr199Ile) c.386C>T (p.Thr129Ile) n.325-1586C>T (p.=) | |
| 3 | g.190408317del | CA548798494 | CLDN16 | c.596del (p.Pro200GlnfsTer?) c.386del (p.Pro130GlnfsTer?) n.325-1586del (p.=) | dbSNP gnomAD |
| 3 | g.190408318C>A | CA437418527 | CLDN16 | c.597C>A (p.Thr199=) c.387C>A (p.Thr129=) n.325-1585C>A (p.=) | |
| 3 | g.190408318C>G | CA437418528 | CLDN16 | c.597C>G (p.Thr199=) c.387C>G (p.Thr129=) n.325-1585C>G (p.=) | gnomAD |
| 3 | g.190408318C>T | CA437418529 | CLDN16 | c.597C>T (p.Thr199=) c.387C>T (p.Thr129=) n.325-1585C>T (p.=) | |
| 3 | g.190408319C>A | CA355766922 | CLDN16 | c.598C>A (p.Pro200Thr) c.388C>A (p.Pro130Thr) n.325-1584C>A (p.=) | |
| 3 | g.190408319C>G | CA355766923 | CLDN16 | c.598C>G (p.Pro200Ala) c.388C>G (p.Pro130Ala) n.325-1584C>G (p.=) | |
| 3 | g.190408319C>T | CA355766924 | CLDN16 | c.598C>T (p.Pro200Ser) c.388C>T (p.Pro130Ser) n.325-1584C>T (p.=) | |
| 3 | g.190408320C>A | CA355766925 | CLDN16 | c.599C>A (p.Pro200Gln) c.389C>A (p.Pro130Gln) n.325-1583C>A (p.=) | |
| 3 | g.190408320C>G | CA355766926 | CLDN16 | c.599C>G (p.Pro200Arg) c.389C>G (p.Pro130Arg) n.325-1583C>G (p.=) | |
| 3 | g.190408320C>T | CA355766927 | CLDN16 | c.599C>T (p.Pro200Leu) c.389C>T (p.Pro130Leu) n.325-1583C>T (p.=) | |
| 3 | g.190408321A>C | CA437418530 | CLDN16 | c.600A>C (p.Pro200=) c.390A>C (p.Pro130=) n.325-1582A>C (p.=) | |
| 3 | g.190408321A>G | CA437418531 | CLDN16 | c.600A>G (p.Pro200=) c.390A>G (p.Pro130=) n.325-1582A>G (p.=) | |
| 3 | g.190408321A>T | CA437418532 | CLDN16 | c.600A>T (p.Pro200=) c.390A>T (p.Pro130=) n.325-1582A>T (p.=) | |
| 3 | g.190408322G>A | CA355766930 | CLDN16 | c.601G>A (p.Gly201Arg) c.391G>A (p.Gly131Arg) n.325-1581G>A (p.=) | |
| 3 | g.190408322G>C | CA355766929 | CLDN16 | c.601G>C (p.Gly201Arg) c.391G>C (p.Gly131Arg) n.325-1581G>C (p.=) | |
| 3 | g.190408322G>T | CA355766928 | CLDN16 | c.601G>T (p.Gly201Ter) c.391G>T (p.Gly131Ter) n.325-1581G>T (p.=) | |
| 3 | g.190408323G>A | CA355766931 | CLDN16 | c.602G>A (p.Gly201Glu) c.392G>A (p.Gly131Glu) n.325-1580G>A (p.=) | ClinVar |
| 3 | g.190408323G>C | CA2753862 | CLDN16 | c.602G>C (p.Gly201Ala) c.392G>C (p.Gly131Ala) n.325-1580G>C (p.=) | dbSNP ExAC gnomAD |
| 3 | g.190408323G>T | CA355766932 | CLDN16 | c.602G>T (p.Gly201Val) c.392G>T (p.Gly131Val) n.325-1580G>T (p.=) | |
| 3 | g.190408324A>C | CA437418533 | CLDN16 | c.603A>C (p.Gly201=) c.393A>C (p.Gly131=) n.325-1579A>C (p.=) | |
| 3 | g.190408324A>G | CA437418534 | CLDN16 | c.603A>G (p.Gly201=) c.393A>G (p.Gly131=) n.325-1579A>G (p.=) | |
| 3 | g.190408324A>T | CA437418535 | CLDN16 | c.603A>T (p.Gly201=) c.393A>T (p.Gly131=) n.325-1579A>T (p.=) | |
| 3 | g.190408325A>C | CA355766933 | CLDN16 | c.604A>C (p.Ile202Leu) c.394A>C (p.Ile132Leu) n.325-1578A>C (p.=) | |
| 3 | g.190408325A>G | CA355766934 | CLDN16 | c.604A>G (p.Ile202Val) c.394A>G (p.Ile132Val) n.325-1578A>G (p.=) | |
| 3 | g.190408325A>T | CA355766935 | CLDN16 | c.604A>T (p.Ile202Phe) c.394A>T (p.Ile132Phe) n.325-1578A>T (p.=) | |
| 3 | g.190408326T>A | CA355766936 | CLDN16 | c.605T>A (p.Ile202Asn) c.395T>A (p.Ile132Asn) n.325-1577T>A (p.=) | |
| 3 | g.190408326T>C | CA355766937 | CLDN16 | c.605T>C (p.Ile202Thr) c.395T>C (p.Ile132Thr) n.325-1577T>C (p.=) | |
| 3 | g.190408326T>G | CA355766938 | CLDN16 | c.605T>G (p.Ile202Ser) c.395T>G (p.Ile132Ser) n.325-1577T>G (p.=) | |
| 3 | g.190408327C>A | CA437418536 | CLDN16 | c.606C>A (p.Ile202=) c.396C>A (p.Ile132=) n.325-1576C>A (p.=) | |
| 3 | g.190408327C>G | CA355766939 | CLDN16 | c.606C>G (p.Ile202Met) c.396C>G (p.Ile132Met) n.325-1576C>G (p.=) | |
| 3 | g.190408327C>T | CA437418537 | CLDN16 | c.606C>T (p.Ile202=) c.396C>T (p.Ile132=) n.325-1576C>T (p.=) | |
| 3 | g.190408328A>C | CA355766940 | CLDN16 | c.607A>C (p.Ile203Leu) c.397A>C (p.Ile133Leu) n.325-1575A>C (p.=) | |
| 3 | g.190408328A>G | CA355766941 | CLDN16 | c.607A>G (p.Ile203Val) c.397A>G (p.Ile133Val) n.325-1575A>G (p.=) | |
| 3 | g.190408328A>T | CA355766942 | CLDN16 | c.607A>T (p.Ile203Phe) c.397A>T (p.Ile133Phe) n.325-1575A>T (p.=) | |
| 3 | g.190408329T>A | CA355766944 | CLDN16 | c.608T>A (p.Ile203Asn) c.398T>A (p.Ile133Asn) n.325-1574T>A (p.=) | |
| 3 | g.190408329T>C | CA355766945 | CLDN16 | c.608T>C (p.Ile203Thr) c.398T>C (p.Ile133Thr) n.325-1574T>C (p.=) | gnomAD |
| 3 | g.190408329T>G | CA355766943 | CLDN16 | c.608T>G (p.Ile203Ser) c.398T>G (p.Ile133Ser) n.325-1574T>G (p.=) | |
| 3 | g.190408330T>A | CA437418538 | CLDN16 | c.609T>A (p.Ile203=) c.399T>A (p.Ile133=) n.325-1573T>A (p.=) |