Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.190388331T>A | CA355762539 | CLDN16 | c.2T>A (p.Met1Lys) c.212T>A (p.Met71Lys) n.306+13728T>A | |
3 | g.190388331T>C | CA355762540 | CLDN16 | c.2T>C (p.Met1Thr) c.212T>C (p.Met71Thr) n.306+13728T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.190388331T>G | CA117862 | CLDN16 | c.2T>G (p.Met1Arg) c.212T>G (p.Met71Arg) n.306+13728T>G | ClinVar dbSNP |
3 | g.190388331T= | CA1428775947 | CLDN16 | c.2T= (p.Met1=) c.212T= (p.Met71=) n.306+13728T= | |
3 | g.190388332G>A | CA355762541 | CLDN16 | c.3G>A (p.Met1Ile) c.213G>A (p.Met71Ile) n.306+13729G>A | |
3 | g.190388332G>C | CA355762542 | CLDN16 | c.3G>C (p.Met1Ile) c.213G>C (p.Met71Ile) n.306+13729G>C | |
3 | g.190388332G>T | CA355762543 | CLDN16 | c.3G>T (p.Met1Ile) c.213G>T (p.Met71Ile) n.306+13729G>T | |
3 | g.190388332dup | CA1428775951 | CLDN16 | c.3dup (p.Arg2GlufsTer26) c.213dup (p.Arg72GlufsTer26) n.306+13729dup | dbSNP |
3 | g.190388333A= | CA1428775953 | CLDN16 | c.4A= (p.Arg2=) c.214A= (p.Arg72=) n.306+13730A= | |
3 | g.190388333A>C | CA437637292 | CLDN16 | c.4A>C (p.Arg2=) c.214A>C (p.Arg72=) n.306+13730A>C | |
3 | g.190388333A>G | CA355762544 | CLDN16 | c.4A>G (p.Arg2Gly) c.214A>G (p.Arg72Gly) n.306+13730A>G | |
3 | g.190388333A>T | CA2753724 | CLDN16 | c.4A>T (p.Arg2Trp) c.214A>T (p.Arg72Trp) n.306+13730A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190388334G>A | CA355762547 | CLDN16 | c.5G>A (p.Arg2Lys) c.215G>A (p.Arg72Lys) n.306+13731G>A | |
3 | g.190388334G>C | CA355762545 | CLDN16 | c.5G>C (p.Arg2Thr) c.215G>C (p.Arg72Thr) n.306+13731G>C | |
3 | g.190388334G>T | CA355762546 | CLDN16 | c.5G>T (p.Arg2Met) c.215G>T (p.Arg72Met) n.306+13731G>T | |
3 | g.190388335G>A | CA437637296 | CLDN16 | c.6G>A (p.Arg2=) c.216G>A (p.Arg72=) n.306+13732G>A | |
3 | g.190388335G>C | CA355762548 | CLDN16 | c.6G>C (p.Arg2Ser) c.216G>C (p.Arg72Ser) n.306+13732G>C | |
3 | g.190388335G>T | CA355762549 | CLDN16 | c.6G>T (p.Arg2Ser) c.216G>T (p.Arg72Ser) n.306+13732G>T | gnomAD v4 |
3 | g.190388336G>A | CA355762550 | CLDN16 | c.7G>A (p.Asp3Asn) c.217G>A (p.Asp73Asn) n.306+13733G>A | COSMIC |
3 | g.190388336G>C | CA355762551 | CLDN16 | c.7G>C (p.Asp3His) c.217G>C (p.Asp73His) n.306+13733G>C | |
3 | g.190388336G>T | CA355762552 | CLDN16 | c.7G>T (p.Asp3Tyr) c.217G>T (p.Asp73Tyr) n.306+13733G>T | gnomAD v4 |
3 | g.190388337A>C | CA355762553 | CLDN16 | c.8A>C (p.Asp3Ala) c.218A>C (p.Asp73Ala) n.306+13734A>C | |
3 | g.190388337A>G | CA355762554 | CLDN16 | c.8A>G (p.Asp3Gly) c.218A>G (p.Asp73Gly) n.306+13734A>G | |
3 | g.190388337A>T | CA355762555 | CLDN16 | c.8A>T (p.Asp3Val) c.218A>T (p.Asp73Val) n.306+13734A>T | |
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 | 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= |