Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.190388343_190388345del | CA2669054144 | CLDN16 | c.14_16del (p.Leu5del) c.224_226del (p.Leu75del) n.306+13740_306+13742del | gnomAD v4 |
3 | g.190388344T>A | CA437637308 | CLDN16 | c.15T>A (p.Leu5=) c.225T>A (p.Leu75=) n.306+13741T>A | |
3 | g.190388344T>C | CA437637310 | CLDN16 | c.15T>C (p.Leu5=) c.225T>C (p.Leu75=) n.306+13741T>C | ClinVar dbSNP gnomAD v4 |
3 | g.190388344T>G | CA437637307 | CLDN16 | c.15T>G (p.Leu5=) c.225T>G (p.Leu75=) n.306+13741T>G | |
3 | g.190388344T= | CA1428775966 | CLDN16 | c.15T= (p.Leu5=) c.225T= (p.Leu75=) n.306+13741T= | |
3 | g.190388345C>A | CA355762569 | CLDN16 | c.16C>A (p.Gln6Lys) c.226C>A (p.Gln76Lys) n.306+13742C>A | COSMIC |
3 | g.190388345C>G | CA355762570 | CLDN16 | c.16C>G (p.Gln6Glu) c.226C>G (p.Gln76Glu) n.306+13742C>G | |
3 | g.190388345C>T | CA355762571 | CLDN16 | c.16C>T (p.Gln6Ter) c.226C>T (p.Gln76Ter) n.306+13742C>T | |
3 | g.190388346A= | CA1428775971 | CLDN16 | c.17A= (p.Gln6=) c.227A= (p.Gln76=) n.306+13743A= | |
3 | g.190388346A>C | CA10618255 | CLDN16 | c.17A>C (p.Gln6Pro) c.227A>C (p.Gln76Pro) n.306+13743A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388346A>G | CA355762572 | CLDN16 | c.17A>G (p.Gln6Arg) c.227A>G (p.Gln76Arg) n.306+13743A>G | |
3 | g.190388346A>T | CA355762573 | CLDN16 | c.17A>T (p.Gln6Leu) c.227A>T (p.Gln76Leu) n.306+13743A>T | |
3 | g.190388347A>C | CA355762574 | CLDN16 | c.18A>C (p.Gln6His) c.228A>C (p.Gln76His) n.306+13744A>C | |
3 | g.190388347A>G | CA437637313 | CLDN16 | c.18A>G (p.Gln6=) c.228A>G (p.Gln76=) n.306+13744A>G | |
3 | g.190388347A>T | CA355762575 | CLDN16 | c.18A>T (p.Gln6His) c.228A>T (p.Gln76His) n.306+13744A>T | |
3 | g.190388348T>A | CA355762576 | CLDN16 | c.19T>A (p.Tyr7Asn) c.229T>A (p.Tyr77Asn) n.306+13745T>A | |
3 | g.190388348T>C | CA2753726 | CLDN16 | c.19T>C (p.Tyr7His) c.229T>C (p.Tyr77His) n.306+13745T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388348T>G | CA355762577 | CLDN16 | c.19T>G (p.Tyr7Asp) c.229T>G (p.Tyr77Asp) n.306+13745T>G | |
3 | g.190388348T= | CA1428775979 | CLDN16 | c.19T= (p.Tyr7=) c.229T= (p.Tyr77=) n.306+13745T= | |
3 | g.190388349A= | CA1428775982 | CLDN16 | c.20A= (p.Tyr7=) c.230A= (p.Tyr77=) n.306+13746A= | |
3 | g.190388349A>C | CA355762578 | CLDN16 | c.20A>C (p.Tyr7Ser) c.230A>C (p.Tyr77Ser) n.306+13746A>C | |
3 | g.190388349A>G | CA2753727 | CLDN16 | c.20A>G (p.Tyr7Cys) c.230A>G (p.Tyr77Cys) n.306+13746A>G | dbSNP ExAC gnomAD v2 |
3 | g.190388349A>T | CA355762579 | CLDN16 | c.20A>T (p.Tyr7Phe) c.230A>T (p.Tyr77Phe) n.306+13746A>T | |
3 | g.190388350C>A | CA355762580 | CLDN16 | c.21C>A (p.Tyr7Ter) c.231C>A (p.Tyr77Ter) n.306+13747C>A | |
3 | g.190388350C= | CA1428775985 | CLDN16 | c.21C= (p.Tyr7=) c.231C= (p.Tyr77=) n.306+13747C= | |
3 | g.190388350C>G | CA355762581 | CLDN16 | c.21C>G (p.Tyr7Ter) c.231C>G (p.Tyr77Ter) n.306+13747C>G | |
3 | g.190388350C>T | CA437637316 | CLDN16 | c.21C>T (p.Tyr7=) c.231C>T (p.Tyr77=) n.306+13747C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388351A= | CA1428775990 | CLDN16 | c.22A= (p.Ile8=) c.232A= (p.Ile78=) n.306+13748A= | |
3 | g.190388351A>C | CA355762582 | CLDN16 | c.22A>C (p.Ile8Leu) c.232A>C (p.Ile78Leu) n.306+13748A>C | |
3 | g.190388351A>G | CA2753728 | CLDN16 | c.22A>G (p.Ile8Val) c.232A>G (p.Ile78Val) n.306+13748A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388351A>T | CA355762583 | CLDN16 | c.22A>T (p.Ile8Phe) c.232A>T (p.Ile78Phe) n.306+13748A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.190388352T>A | CA355762585 | CLDN16 | c.23T>A (p.Ile8Asn) c.233T>A (p.Ile78Asn) n.306+13749T>A | |
3 | g.190388352T>C | CA355762586 | CLDN16 | c.23T>C (p.Ile8Thr) c.233T>C (p.Ile78Thr) n.306+13749T>C | |
3 | g.190388352T>G | CA355762584 | CLDN16 | c.23T>G (p.Ile8Ser) c.233T>G (p.Ile78Ser) n.306+13749T>G | |
3 | g.190388353C>A | CA437637320 | CLDN16 | c.24C>A (p.Ile8=) c.234C>A (p.Ile78=) n.306+13750C>A | |
3 | g.190388353C= | CA1428775993 | CLDN16 | c.24C= (p.Ile8=) c.234C= (p.Ile78=) n.306+13750C= | |
3 | g.190388353C>G | CA355762587 | CLDN16 | c.24C>G (p.Ile8Met) c.234C>G (p.Ile78Met) n.306+13750C>G | gnomAD v4 |
3 | g.190388353C>T | CA2753729 | CLDN16 | c.24C>T (p.Ile8=) c.234C>T (p.Ile78=) n.306+13750C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388354G>A | CA89750156 | CLDN16 | c.25G>A (p.Ala9Thr) c.235G>A (p.Ala79Thr) n.306+13751G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388354G>C | CA355762588 | CLDN16 | c.25G>C (p.Ala9Pro) c.235G>C (p.Ala79Pro) n.306+13751G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.190388354G= | CA1428775995 | CLDN16 | c.25G= (p.Ala9=) c.235G= (p.Ala79=) n.306+13751G= | |
3 | g.190388354G>T | CA355762589 | CLDN16 | c.25G>T (p.Ala9Ser) c.235G>T (p.Ala79Ser) n.306+13751G>T | COSMIC |
3 | g.190388355C>A | CA355762590 | CLDN16 | c.26C>A (p.Ala9Asp) c.236C>A (p.Ala79Asp) n.306+13752C>A | |
3 | g.190388355C>G | CA355762591 | CLDN16 | c.26C>G (p.Ala9Gly) c.236C>G (p.Ala79Gly) n.306+13752C>G | |
3 | g.190388355C>T | CA355762592 | CLDN16 | c.26C>T (p.Ala9Val) c.236C>T (p.Ala79Val) n.306+13752C>T | |
3 | g.190388356T>A | CA437637276 | CLDN16 | c.27T>A (p.Ala9=) c.237T>A (p.Ala79=) n.306+13753T>A | dbSNP |
3 | g.190388356T>C | CA437637274 | CLDN16 | c.27T>C (p.Ala9=) c.237T>C (p.Ala79=) n.306+13753T>C | |
3 | g.190388356T>G | CA437637275 | CLDN16 | c.27T>G (p.Ala9=) c.237T>G (p.Ala79=) n.306+13753T>G | |
3 | g.190388356T= | CA1428775997 | CLDN16 | c.27T= (p.Ala9=) c.237T= (p.Ala79=) n.306+13753T= | |
3 | g.190388357T>A | CA355762594 | CLDN16 | c.28T>A (p.Cys10Ser) c.238T>A (p.Cys80Ser) n.306+13754T>A |