Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.190388338T>A | CA355762556 | CLDN16 | c.9T>A (p.Asp3Glu) c.219T>A (p.Asp73Glu) n.306+13735T>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388338T>C | CA437637298 | CLDN16 | c.9T>C (p.Asp3=) c.219T>C (p.Asp73=) n.306+13735T>C | dbSNP gnomAD v4 |
3 | g.190388338T>G | CA355762557 | CLDN16 | c.9T>G (p.Asp3Glu) c.219T>G (p.Asp73Glu) n.306+13735T>G | |
3 | g.190388338T= | CA1428775957 | CLDN16 | c.9T= (p.Asp3=) c.219T= (p.Asp73=) n.306+13735T= | |
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.190388339C>A | CA355762559 | CLDN16 | c.10C>A (p.Leu4Ile) c.220C>A (p.Leu74Ile) n.306+13736C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388339C= | CA1428775961 | CLDN16 | c.10C= (p.Leu4=) c.220C= (p.Leu74=) n.306+13736C= | |
3 | g.190388339C>G | CA355762560 | CLDN16 | c.10C>G (p.Leu4Val) c.220C>G (p.Leu74Val) n.306+13736C>G | |
3 | g.190388339C>T | CA355762558 | CLDN16 | c.10C>T (p.Leu4Phe) c.220C>T (p.Leu74Phe) n.306+13736C>T | |
3 | g.190388340T>A | CA355762561 | CLDN16 | c.11T>A (p.Leu4His) c.221T>A (p.Leu74His) n.306+13737T>A | |
3 | g.190388340T>C | CA355762562 | CLDN16 | c.11T>C (p.Leu4Pro) c.221T>C (p.Leu74Pro) n.306+13737T>C | |
3 | g.190388340T>G | CA355762563 | CLDN16 | c.11T>G (p.Leu4Arg) c.221T>G (p.Leu74Arg) n.306+13737T>G | |
3 | g.190388341T>A | CA437637300 | CLDN16 | c.12T>A (p.Leu4=) c.222T>A (p.Leu74=) n.306+13738T>A | |
3 | g.190388341T>C | CA437637301 | CLDN16 | c.12T>C (p.Leu4=) c.222T>C (p.Leu74=) n.306+13738T>C | |
3 | g.190388341T>G | CA437637302 | CLDN16 | c.12T>G (p.Leu4=) c.222T>G (p.Leu74=) n.306+13738T>G | |
3 | g.190388342C>A | CA2753725 | CLDN16 | c.13C>A (p.Leu5Ile) c.223C>A (p.Leu75Ile) n.306+13739C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388342C= | CA1428775964 | CLDN16 | c.13C= (p.Leu5=) c.223C= (p.Leu75=) n.306+13739C= | |
3 | g.190388342C>G | CA355762564 | CLDN16 | c.13C>G (p.Leu5Val) c.223C>G (p.Leu75Val) n.306+13739C>G | |
3 | g.190388342C>T | CA355762565 | CLDN16 | c.13C>T (p.Leu5Phe) c.223C>T (p.Leu75Phe) n.306+13739C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388343T>A | CA355762566 | CLDN16 | c.14T>A (p.Leu5His) c.224T>A (p.Leu75His) n.306+13740T>A | |
3 | g.190388343T>C | CA355762567 | CLDN16 | c.14T>C (p.Leu5Pro) c.224T>C (p.Leu75Pro) n.306+13740T>C | |
3 | g.190388343T>G | CA355762568 | CLDN16 | c.14T>G (p.Leu5Arg) c.224T>G (p.Leu75Arg) n.306+13740T>G | |
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 |