Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.53810799_53810830dup | CA2580097747 | NLRP12 | c.836_867dup (p.Leu290SerfsTer?) c.668_699dup (p.Leu234SerfsTer?) c.419_450dup (p.Leu151SerfsTer?) | ClinVar gnomAD v4 |
19 | g.53810810_53810813del | CA2586956544 | NLRP12 | c.847_850del (p.Ile283GlufsTer?) c.679_682del (p.Ile227GlufsTer?) c.430_433del (p.Ile144GlufsTer?) | gnomAD v4 |
19 | g.53810813G>A | CA508854241 | NLRP12 | c.846C>T (p.Leu282=) c.678C>T (p.Leu226=) c.429C>T (p.Leu143=) | |
19 | g.53810813G>C | CA508854242 | NLRP12 | c.846C>G (p.Leu282=) c.678C>G (p.Leu226=) c.429C>G (p.Leu143=) | |
19 | g.53810813G>T | CA508854244 | NLRP12 | c.846C>A (p.Leu282=) c.678C>A (p.Leu226=) c.429C>A (p.Leu143=) | |
19 | g.53810814A= | CA2342536902 | NLRP12 | c.845T= (p.Leu282=) c.677T= (p.Leu226=) c.428T= (p.Leu143=) | |
19 | g.53810814A>C | CA407415669 | NLRP12 | c.845T>G (p.Leu282Arg) c.677T>G (p.Leu226Arg) c.428T>G (p.Leu143Arg) | |
19 | g.53810814A>G | CA407415670 | NLRP12 | c.845T>C (p.Leu282Pro) c.677T>C (p.Leu226Pro) c.428T>C (p.Leu143Pro) | dbSNP gnomAD v4 |
19 | g.53810814A>T | CA407415671 | NLRP12 | c.845T>A (p.Leu282His) c.677T>A (p.Leu226His) c.428T>A (p.Leu143His) | |
19 | g.53810815G>A | CA407415672 | NLRP12 | c.844C>T (p.Leu282Phe) c.676C>T (p.Leu226Phe) c.427C>T (p.Leu143Phe) | gnomAD v4 |
19 | g.53810815G>C | CA407415673 | NLRP12 | c.844C>G (p.Leu282Val) c.676C>G (p.Leu226Val) c.427C>G (p.Leu143Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.53810815G= | CA2342536903 | NLRP12 | c.844C= (p.Leu282=) c.676C= (p.Leu226=) c.427C= (p.Leu143=) | |
19 | g.53810815G>T | CA407415674 | NLRP12 | c.844C>A (p.Leu282Ile) c.676C>A (p.Leu226Ile) c.427C>A (p.Leu143Ile) | |
19 | g.53810816C>A | CA407415675 | NLRP12 | c.843G>T (p.Glu281Asp) c.675G>T (p.Glu225Asp) c.426G>T (p.Glu142Asp) | ClinVar |
19 | g.53810816C= | CA2342536904 | NLRP12 | c.843G= (p.Glu281=) c.675G= (p.Glu225=) c.426G= (p.Glu142=) | |
19 | g.53810816C>G | CA407415676 | NLRP12 | c.843G>C (p.Glu281Asp) c.675G>C (p.Glu225Asp) c.426G>C (p.Glu142Asp) | ClinVar dbSNP |
19 | g.53810816C>T | CA508854247 | NLRP12 | c.843G>A (p.Glu281=) c.675G>A (p.Glu225=) c.426G>A (p.Glu142=) | |
19 | g.53810818_53810820del | CA2586956545 | NLRP12 | c.841_843del (p.Glu281del) c.673_675del (p.Glu225del) c.424_426del (p.Glu142del) | gnomAD v4 |
19 | g.53810817T>A | CA407415677 | NLRP12 | c.842A>T (p.Glu281Val) c.674A>T (p.Glu225Val) c.425A>T (p.Glu142Val) | |
19 | g.53810817T>C | CA407415678 | NLRP12 | c.842A>G (p.Glu281Gly) c.674A>G (p.Glu225Gly) c.425A>G (p.Glu142Gly) | |
19 | g.53810817T>G | CA407415679 | NLRP12 | c.842A>C (p.Glu281Ala) c.674A>C (p.Glu225Ala) c.425A>C (p.Glu142Ala) | |
19 | g.53810818C>A | CA407415680 | NLRP12 | c.841G>T (p.Glu281Ter) c.673G>T (p.Glu225Ter) c.424G>T (p.Glu142Ter) | |
19 | g.53810818C= | CA2342536905 | NLRP12 | c.841G= (p.Glu281=) c.673G= (p.Glu225=) c.424G= (p.Glu142=) | |
19 | g.53810818C>G | CA407415681 | NLRP12 | c.841G>C (p.Glu281Gln) c.673G>C (p.Glu225Gln) c.424G>C (p.Glu142Gln) | |
19 | g.53810818C>T | CA310070975 | NLRP12 | c.841G>A (p.Glu281Lys) c.673G>A (p.Glu225Lys) c.424G>A (p.Glu142Lys) | dbSNP |
19 | g.53810819C>A | CA407415682 | NLRP12 | c.840G>T (p.Gln280His) c.672G>T (p.Gln224His) c.423G>T (p.Gln141His) | |
19 | g.53810819C>G | CA407415683 | NLRP12 | c.840G>C (p.Gln280His) c.672G>C (p.Gln224His) c.423G>C (p.Gln141His) | |
19 | g.53810819C>T | CA508854253 | NLRP12 | c.840G>A (p.Gln280=) c.672G>A (p.Gln224=) c.423G>A (p.Gln141=) | gnomAD v4 |
19 | g.53810820T>A | CA407415684 | NLRP12 | c.839A>T (p.Gln280Leu) c.671A>T (p.Gln224Leu) c.422A>T (p.Gln141Leu) | |
19 | g.53810820T>C | CA407415685 | NLRP12 | c.839A>G (p.Gln280Arg) c.671A>G (p.Gln224Arg) c.422A>G (p.Gln141Arg) | gnomAD v4 |
19 | g.53810820T>G | CA407415686 | NLRP12 | c.839A>C (p.Gln280Pro) c.671A>C (p.Gln224Pro) c.422A>C (p.Gln141Pro) | |
19 | g.53810821G>A | CA9639596 | NLRP12 | c.838C>T (p.Gln280Ter) c.670C>T (p.Gln224Ter) c.421C>T (p.Gln141Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810821G>C | CA9639597 | NLRP12 | c.838C>G (p.Gln280Glu) c.670C>G (p.Gln224Glu) c.421C>G (p.Gln141Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.53810821G= | CA2342536906 | NLRP12 | c.838C= (p.Gln280=) c.670C= (p.Gln224=) c.421C= (p.Gln141=) | |
19 | g.53810821G>T | CA407415687 | NLRP12 | c.838C>A (p.Gln280Lys) c.670C>A (p.Gln224Lys) c.421C>A (p.Gln141Lys) | |
19 | g.53810822G>A | CA508854257 | NLRP12 | c.837C>T (p.Leu279=) c.669C>T (p.Leu223=) c.420C>T (p.Leu140=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.53810822G>C | CA508854258 | NLRP12 | c.837C>G (p.Leu279=) c.669C>G (p.Leu223=) c.420C>G (p.Leu140=) | gnomAD v4 |
19 | g.53810822G= | CA2342536907 | NLRP12 | c.837C= (p.Leu279=) c.669C= (p.Leu223=) c.420C= (p.Leu140=) | |
19 | g.53810822G>T | CA508854259 | NLRP12 | c.837C>A (p.Leu279=) c.669C>A (p.Leu223=) c.420C>A (p.Leu140=) | |
19 | g.53810823A>C | CA407415688 | NLRP12 | c.836T>G (p.Leu279Arg) c.668T>G (p.Leu223Arg) c.419T>G (p.Leu140Arg) | |
19 | g.53810823A>G | CA407415689 | NLRP12 | c.836T>C (p.Leu279Pro) c.668T>C (p.Leu223Pro) c.419T>C (p.Leu140Pro) | gnomAD v4 |
19 | g.53810823A>T | CA407415690 | NLRP12 | c.836T>A (p.Leu279His) c.668T>A (p.Leu223His) c.419T>A (p.Leu140His) | |
19 | g.53810824G>A | CA310070987 | NLRP12 | c.835C>T (p.Leu279Phe) c.667C>T (p.Leu223Phe) c.418C>T (p.Leu140Phe) | dbSNP |
19 | g.53810824G>C | CA407415691 | NLRP12 | c.835C>G (p.Leu279Val) c.667C>G (p.Leu223Val) c.418C>G (p.Leu140Val) | ClinVar dbSNP |
19 | g.53810824G= | CA2342536908 | NLRP12 | c.835C= (p.Leu279=) c.667C= (p.Leu223=) c.418C= (p.Leu140=) | |
19 | g.53810824G>T | CA407415692 | NLRP12 | c.835C>A (p.Leu279Ile) c.667C>A (p.Leu223Ile) c.418C>A (p.Leu140Ile) | |
19 | g.53810825A>C | CA508854262 | NLRP12 | c.834T>G (p.Pro278=) c.666T>G (p.Pro222=) c.417T>G (p.Pro139=) | |
19 | g.53810825A>G | CA508854264 | NLRP12 | c.834T>C (p.Pro278=) c.666T>C (p.Pro222=) c.417T>C (p.Pro139=) | |
19 | g.53810825A>T | CA508854263 | NLRP12 | c.834T>A (p.Pro278=) c.666T>A (p.Pro222=) c.417T>A (p.Pro139=) | gnomAD v4 |
19 | g.53810826G>A | CA9639598 | NLRP12 | c.833C>T (p.Pro278Leu) c.665C>T (p.Pro222Leu) c.416C>T (p.Pro139Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.53810826G>C | CA407415694 | NLRP12 | c.833C>G (p.Pro278Arg) c.665C>G (p.Pro222Arg) c.416C>G (p.Pro139Arg) | |
19 | g.53810826G= | CA2342536909 | NLRP12 | c.833C= (p.Pro278=) c.665C= (p.Pro222=) c.416C= (p.Pro139=) | |
19 | g.53810826G>T | CA407415693 | NLRP12 | c.833C>A (p.Pro278His) c.665C>A (p.Pro222His) c.416C>A (p.Pro139His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.53810827G>A | CA407415695 | NLRP12 | c.832C>T (p.Pro278Ser) c.664C>T (p.Pro222Ser) c.415C>T (p.Pro139Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.53810827G>C | CA407415697 | NLRP12 | c.832C>G (p.Pro278Ala) c.664C>G (p.Pro222Ala) c.415C>G (p.Pro139Ala) | |
19 | g.53810827G>T | CA407415696 | NLRP12 | c.832C>A (p.Pro278Thr) c.664C>A (p.Pro222Thr) c.415C>A (p.Pro139Thr) | |
19 | g.53810828C>A | CA508854266 | NLRP12 | c.831G>T (p.Ala277=) c.663G>T (p.Ala221=) c.414G>T (p.Ala138=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.53810828C= | CA2342536910 | NLRP12 | c.831G= (p.Ala277=) c.663G= (p.Ala221=) c.414G= (p.Ala138=) | |
19 | g.53810828C>G | CA9639600 | NLRP12 | c.831G>C (p.Ala277=) c.663G>C (p.Ala221=) c.414G>C (p.Ala138=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810828C>T | CA9639599 | NLRP12 | c.831G>A (p.Ala277=) c.663G>A (p.Ala221=) c.414G>A (p.Ala138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.53810829G>A | CA407415698 | NLRP12 | c.830C>T (p.Ala277Val) c.662C>T (p.Ala221Val) c.413C>T (p.Ala138Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810829G>C | CA407415699 | NLRP12 | c.830C>G (p.Ala277Gly) c.662C>G (p.Ala221Gly) c.413C>G (p.Ala138Gly) | |
19 | g.53810829G= | CA2342536911 | NLRP12 | c.830C= (p.Ala277=) c.662C= (p.Ala221=) c.413C= (p.Ala138=) | |
19 | g.53810829G>T | CA407415700 | NLRP12 | c.830C>A (p.Ala277Glu) c.662C>A (p.Ala221Glu) c.413C>A (p.Ala138Glu) | |
19 | g.53810830C>A | CA407415701 | NLRP12 | c.829G>T (p.Ala277Ser) c.661G>T (p.Ala221Ser) c.412G>T (p.Ala138Ser) | |
19 | g.53810830C= | CA2342536912 | NLRP12 | c.829G= (p.Ala277=) c.661G= (p.Ala221=) c.412G= (p.Ala138=) | |
19 | g.53810830C>G | CA407415702 | NLRP12 | c.829G>C (p.Ala277Pro) c.661G>C (p.Ala221Pro) c.412G>C (p.Ala138Pro) | |
19 | g.53810830C>T | CA9639601 | NLRP12 | c.829G>A (p.Ala277Thr) c.661G>A (p.Ala221Thr) c.412G>A (p.Ala138Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.53810831G>A | CA508854268 | NLRP12 | c.828C>T (p.Ser276=) c.660C>T (p.Ser220=) c.411C>T (p.Ser137=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.53810831G>C | CA407415703 | NLRP12 | c.828C>G (p.Ser276Arg) c.660C>G (p.Ser220Arg) c.411C>G (p.Ser137Arg) | |
19 | g.53810831G= | CA2342536913 | NLRP12 | c.828C= (p.Ser276=) c.660C= (p.Ser220=) c.411C= (p.Ser137=) | |
19 | g.53810831G>T | CA407415704 | NLRP12 | c.828C>A (p.Ser276Arg) c.660C>A (p.Ser220Arg) c.411C>A (p.Ser137Arg) | |
19 | g.53810832C>A | CA407415705 | NLRP12 | c.827G>T (p.Ser276Ile) c.659G>T (p.Ser220Ile) c.410G>T (p.Ser137Ile) | |
19 | g.53810832C>G | CA407415706 | NLRP12 | c.827G>C (p.Ser276Thr) c.659G>C (p.Ser220Thr) c.410G>C (p.Ser137Thr) | |
19 | g.53810832C>T | CA407415707 | NLRP12 | c.827G>A (p.Ser276Asn) c.659G>A (p.Ser220Asn) c.410G>A (p.Ser137Asn) | |
19 | g.53810833T>A | CA407415708 | NLRP12 | c.826A>T (p.Ser276Cys) c.658A>T (p.Ser220Cys) c.409A>T (p.Ser137Cys) | |
19 | g.53810833T>C | CA407415710 | NLRP12 | c.826A>G (p.Ser276Gly) c.658A>G (p.Ser220Gly) c.409A>G (p.Ser137Gly) | |
19 | g.53810833T>G | CA407415709 | NLRP12 | c.826A>C (p.Ser276Arg) c.658A>C (p.Ser220Arg) c.409A>C (p.Ser137Arg) | |
19 | g.53810834G>A | CA508854273 | NLRP12 | c.825C>T (p.Pro275=) c.657C>T (p.Pro219=) c.408C>T (p.Pro136=) | gnomAD v4 |
19 | g.53810834G>C | CA508854271 | NLRP12 | c.825C>G (p.Pro275=) c.657C>G (p.Pro219=) c.408C>G (p.Pro136=) | ClinVar |
19 | g.53810834G>T | CA508854272 | NLRP12 | c.825C>A (p.Pro275=) c.657C>A (p.Pro219=) c.408C>A (p.Pro136=) | |
19 | g.53810836del | CA2586956546 | NLRP12 | c.825del (p.Ser276AlafsTer?) c.657del (p.Ser220AlafsTer?) c.408del (p.Ser137AlafsTer?) | gnomAD v4 |
19 | g.53810835G>A | CA407415711 | NLRP12 | c.824C>T (p.Pro275Leu) c.656C>T (p.Pro219Leu) c.407C>T (p.Pro136Leu) | gnomAD v4 |
19 | g.53810835G>C | CA407415712 | NLRP12 | c.824C>G (p.Pro275Arg) c.656C>G (p.Pro219Arg) c.407C>G (p.Pro136Arg) | |
19 | g.53810835G>T | CA407415713 | NLRP12 | c.824C>A (p.Pro275His) c.656C>A (p.Pro219His) c.407C>A (p.Pro136His) | |
19 | g.53810836G>A | CA407415714 | NLRP12 | c.823C>T (p.Pro275Ser) c.655C>T (p.Pro219Ser) c.406C>T (p.Pro136Ser) | |
19 | g.53810836G>C | CA407415715 | NLRP12 | c.823C>G (p.Pro275Ala) c.655C>G (p.Pro219Ala) c.406C>G (p.Pro136Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.53810836G= | CA2342536914 | NLRP12 | c.823C= (p.Pro275=) c.655C= (p.Pro219=) c.406C= (p.Pro136=) | |
19 | g.53810836G>T | CA407415716 | NLRP12 | c.823C>A (p.Pro275Thr) c.655C>A (p.Pro219Thr) c.406C>A (p.Pro136Thr) | |
19 | g.53810837C>A | CA407415717 | NLRP12 | c.822G>T (p.Glu274Asp) c.654G>T (p.Glu218Asp) c.405G>T (p.Glu135Asp) | |
19 | g.53810837C= | CA2342536915 | NLRP12 | c.822G= (p.Glu274=) c.654G= (p.Glu218=) c.405G= (p.Glu135=) | |
19 | g.53810837C>G | CA407415718 | NLRP12 | c.822G>C (p.Glu274Asp) c.654G>C (p.Glu218Asp) c.405G>C (p.Glu135Asp) | |
19 | g.53810837C>T | CA9639602 | NLRP12 | c.822G>A (p.Glu274=) c.654G>A (p.Glu218=) c.405G>A (p.Glu135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810838T>A | CA407415721 | NLRP12 | c.821A>T (p.Glu274Val) c.653A>T (p.Glu218Val) c.404A>T (p.Glu135Val) | |
19 | g.53810838T>C | CA407415720 | NLRP12 | c.821A>G (p.Glu274Gly) c.653A>G (p.Glu218Gly) c.404A>G (p.Glu135Gly) | dbSNP gnomAD v4 |
19 | g.53810838T>G | CA407415719 | NLRP12 | c.821A>C (p.Glu274Ala) c.653A>C (p.Glu218Ala) c.404A>C (p.Glu135Ala) | |
19 | g.53810838T= | CA2342536916 | NLRP12 | c.821A= (p.Glu274=) c.653A= (p.Glu218=) c.404A= (p.Glu135=) | |
19 | g.53810839C>A | CA407415722 | NLRP12 | c.820G>T (p.Glu274Ter) c.652G>T (p.Glu218Ter) c.403G>T (p.Glu135Ter) | |
19 | g.53810839C>G | CA407415723 | NLRP12 | c.820G>C (p.Glu274Gln) c.652G>C (p.Glu218Gln) c.403G>C (p.Glu135Gln) | |
19 | g.53810839C>T | CA407415724 | NLRP12 | c.820G>A (p.Glu274Lys) c.652G>A (p.Glu218Lys) c.403G>A (p.Glu135Lys) | |
19 | g.53810840A= | CA2342536917 | NLRP12 | c.819T= (p.Pro273=) c.651T= (p.Pro217=) c.402T= (p.Pro134=) | |
19 | g.53810840A>C | CA508854276 | NLRP12 | c.819T>G (p.Pro273=) c.651T>G (p.Pro217=) c.402T>G (p.Pro134=) | |
19 | g.53810840A>G | CA9639603 | NLRP12 | c.819T>C (p.Pro273=) c.651T>C (p.Pro217=) c.402T>C (p.Pro134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810840A>T | CA508854275 | NLRP12 | c.819T>A (p.Pro273=) c.651T>A (p.Pro217=) c.402T>A (p.Pro134=) | |
19 | g.53810840_53810841delinsAG | CA2342536918 | NLRP12 | c.818_819delinsCT (p.Pro273=) c.650_651delinsCT (p.Pro217=) c.401_402delinsCT (p.Pro134=) | |
19 | g.53810841G>A | CA9639604 | NLRP12 | c.818C>T (p.Pro273Leu) c.650C>T (p.Pro217Leu) c.401C>T (p.Pro134Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810841G>C | CA407415725 | NLRP12 | c.818C>G (p.Pro273Arg) c.650C>G (p.Pro217Arg) c.401C>G (p.Pro134Arg) | gnomAD v4 |
19 | g.53810841G= | CA2342536919 | NLRP12 | c.818C= (p.Pro273=) c.650C= (p.Pro217=) c.401C= (p.Pro134=) | |
19 | g.53810841G>T | CA407415726 | NLRP12 | c.818C>A (p.Pro273His) c.650C>A (p.Pro217His) c.401C>A (p.Pro134His) | |
19 | g.53810842del | CA633905315 | NLRP12 | c.818del (p.Pro273LeufsTer?) c.650del (p.Pro217LeufsTer?) c.401del (p.Pro134LeufsTer?) | dbSNP gnomAD v2 |
19 | g.53810842G>A | CA407415727 | NLRP12 | c.817C>T (p.Pro273Ser) c.649C>T (p.Pro217Ser) c.400C>T (p.Pro134Ser) | |
19 | g.53810842G>C | CA407415728 | NLRP12 | c.817C>G (p.Pro273Ala) c.649C>G (p.Pro217Ala) c.400C>G (p.Pro134Ala) | |
19 | g.53810842G>T | CA407415729 | NLRP12 | c.817C>A (p.Pro273Thr) c.649C>A (p.Pro217Thr) c.400C>A (p.Pro134Thr) | |
19 | g.53810843C>A | CA407415730 | NLRP12 | c.816G>T (p.Trp272Cys) c.648G>T (p.Trp216Cys) c.399G>T (p.Trp133Cys) | gnomAD v4 |
19 | g.53810843C= | CA2342536920 | NLRP12 | c.816G= (p.Trp272=) c.648G= (p.Trp216=) c.399G= (p.Trp133=) | |
19 | g.53810843C>G | CA407415731 | NLRP12 | c.816G>C (p.Trp272Cys) c.648G>C (p.Trp216Cys) c.399G>C (p.Trp133Cys) | |
19 | g.53810843C>T | CA9639605 | NLRP12 | c.816G>A (p.Trp272Ter) c.648G>A (p.Trp216Ter) c.399G>A (p.Trp133Ter) | dbSNP ExAC gnomAD v2 |
19 | g.53810844C>A | CA407415732 | NLRP12 | c.815G>T (p.Trp272Leu) c.647G>T (p.Trp216Leu) c.398G>T (p.Trp133Leu) | gnomAD v4 |
19 | g.53810844C= | CA2342536921 | NLRP12 | c.815G= (p.Trp272=) c.647G= (p.Trp216=) c.398G= (p.Trp133=) | |
19 | g.53810844C>G | CA407415733 | NLRP12 | c.815G>C (p.Trp272Ser) c.647G>C (p.Trp216Ser) c.398G>C (p.Trp133Ser) | |
19 | g.53810844C>T | CA9639606 | NLRP12 | c.815G>A (p.Trp272Ter) c.647G>A (p.Trp216Ter) c.398G>A (p.Trp133Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810845A= | CA2342536922 | NLRP12 | c.814T= (p.Trp272=) c.646T= (p.Trp216=) c.397T= (p.Trp133=) | |
19 | g.53810845A>C | CA407415734 | NLRP12 | c.814T>G (p.Trp272Gly) c.646T>G (p.Trp216Gly) c.397T>G (p.Trp133Gly) | |
19 | g.53810845A>G | CA407415735 | NLRP12 | c.814T>C (p.Trp272Arg) c.646T>C (p.Trp216Arg) c.397T>C (p.Trp133Arg) | gnomAD v4 |
19 | g.53810845A>T | CA9639607 | NLRP12 | c.814T>A (p.Trp272Arg) c.646T>A (p.Trp216Arg) c.397T>A (p.Trp133Arg) | dbSNP ExAC |
19 | g.53810846G>A | CA508854278 | NLRP12 | c.813C>T (p.Cys271=) c.645C>T (p.Cys215=) c.396C>T (p.Cys132=) | |
19 | g.53810846G>C | CA407415736 | NLRP12 | c.813C>G (p.Cys271Trp) c.645C>G (p.Cys215Trp) c.396C>G (p.Cys132Trp) | |
19 | g.53810846G>T | CA407415737 | NLRP12 | c.813C>A (p.Cys271Ter) c.645C>A (p.Cys215Ter) c.396C>A (p.Cys132Ter) | |
19 | g.53810847C>A | CA407415738 | NLRP12 | c.812G>T (p.Cys271Phe) c.644G>T (p.Cys215Phe) c.395G>T (p.Cys132Phe) | |
19 | g.53810847C>G | CA407415739 | NLRP12 | c.812G>C (p.Cys271Ser) c.644G>C (p.Cys215Ser) c.395G>C (p.Cys132Ser) | |
19 | g.53810847C>T | CA407415740 | NLRP12 | c.812G>A (p.Cys271Tyr) c.644G>A (p.Cys215Tyr) c.395G>A (p.Cys132Tyr) | |
19 | g.53810848A= | CA2342536923 | NLRP12 | c.811T= (p.Cys271=) c.643T= (p.Cys215=) c.394T= (p.Cys132=) | |
19 | g.53810848A>C | CA407415741 | NLRP12 | c.811T>G (p.Cys271Gly) c.643T>G (p.Cys215Gly) c.394T>G (p.Cys132Gly) | dbSNP gnomAD v2 |
19 | g.53810848A>G | CA407415742 | NLRP12 | c.811T>C (p.Cys271Arg) c.643T>C (p.Cys215Arg) c.394T>C (p.Cys132Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.53810848A>T | CA407415743 | NLRP12 | c.811T>A (p.Cys271Ser) c.643T>A (p.Cys215Ser) c.394T>A (p.Cys132Ser) | |
19 | g.53810849G>A | CA508854279 | NLRP12 | c.810C>T (p.Ser270=) c.642C>T (p.Ser214=) c.393C>T (p.Ser131=) | |
19 | g.53810849G>C | CA407415745 | NLRP12 | c.810C>G (p.Ser270Arg) c.642C>G (p.Ser214Arg) c.393C>G (p.Ser131Arg) | |
19 | g.53810849G>T | CA407415744 | NLRP12 | c.810C>A (p.Ser270Arg) c.642C>A (p.Ser214Arg) c.393C>A (p.Ser131Arg) | |
19 | g.53810850C>A | CA407415746 | NLRP12 | c.809G>T (p.Ser270Ile) c.641G>T (p.Ser214Ile) c.392G>T (p.Ser131Ile) | gnomAD v4 |
19 | g.53810850C>G | CA407415748 | NLRP12 | c.809G>C (p.Ser270Thr) c.641G>C (p.Ser214Thr) c.392G>C (p.Ser131Thr) | |
19 | g.53810850C>T | CA407415747 | NLRP12 | c.809G>A (p.Ser270Asn) c.641G>A (p.Ser214Asn) c.392G>A (p.Ser131Asn) | gnomAD v4 |
19 | g.53810851T>A | CA407415749 | NLRP12 | c.808A>T (p.Ser270Cys) c.640A>T (p.Ser214Cys) c.391A>T (p.Ser131Cys) | |
19 | g.53810851T>C | CA407415750 | NLRP12 | c.808A>G (p.Ser270Gly) c.640A>G (p.Ser214Gly) c.391A>G (p.Ser131Gly) | dbSNP gnomAD v4 |
19 | g.53810851T>G | CA407415751 | NLRP12 | c.808A>C (p.Ser270Arg) c.640A>C (p.Ser214Arg) c.391A>C (p.Ser131Arg) | |
19 | g.53810852G>A | CA9639608 | NLRP12 | c.807C>T (p.Phe269=) c.639C>T (p.Phe213=) c.390C>T (p.Phe130=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.53810852G>C | CA407415752 | NLRP12 | c.807C>G (p.Phe269Leu) c.639C>G (p.Phe213Leu) c.390C>G (p.Phe130Leu) | |
19 | g.53810852G= | CA2342536924 | NLRP12 | c.807C= (p.Phe269=) c.639C= (p.Phe213=) c.390C= (p.Phe130=) | |
19 | g.53810852G>T | CA407415753 | NLRP12 | c.807C>A (p.Phe269Leu) c.639C>A (p.Phe213Leu) c.390C>A (p.Phe130Leu) | |
19 | g.53810853A>C | CA407415754 | NLRP12 | c.806T>G (p.Phe269Cys) c.638T>G (p.Phe213Cys) c.389T>G (p.Phe130Cys) | |
19 | g.53810853A>G | CA407415755 | NLRP12 | c.806T>C (p.Phe269Ser) c.638T>C (p.Phe213Ser) c.389T>C (p.Phe130Ser) | dbSNP |
19 | g.53810853A>T | CA407415756 | NLRP12 | c.806T>A (p.Phe269Tyr) c.638T>A (p.Phe213Tyr) c.389T>A (p.Phe130Tyr) | |
19 | g.53810854A= | CA2342536926 | NLRP12 | c.805T= (p.Phe269=) c.637T= (p.Phe213=) c.388T= (p.Phe130=) | |
19 | g.53810854A>C | CA407415757 | NLRP12 | c.805T>G (p.Phe269Val) c.637T>G (p.Phe213Val) c.388T>G (p.Phe130Val) | |
19 | g.53810854A>G | CA407415758 | NLRP12 | c.805T>C (p.Phe269Leu) c.637T>C (p.Phe213Leu) c.388T>C (p.Phe130Leu) | dbSNP |
19 | g.53810854A>T | CA407415759 | NLRP12 | c.805T>A (p.Phe269Ile) c.637T>A (p.Phe213Ile) c.388T>A (p.Phe130Ile) | |
19 | g.53810854_53810855delinsAG | CA2342536925 | NLRP12 | c.804_805delinsCT (p.Ile268=) c.636_637delinsCT (p.Ile212=) c.387_388delinsCT (p.Ile129=) | |
19 | g.53810854_53810857delinsAGAT | CA2342536927 | NLRP12 | c.802_805delinsATCT (p.Ile268=) c.634_637delinsATCT (p.Ile212=) c.385_388delinsATCT (p.Ile129=) | |
19 | g.53810855del | CA633905316 | NLRP12 | c.804del (p.Phe269SerfsTer?) c.636del (p.Phe213SerfsTer?) c.387del (p.Phe130SerfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.53810855G>A | CA9639609 | NLRP12 | c.804C>T (p.Ile268=) c.636C>T (p.Ile212=) c.387C>T (p.Ile129=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810855G>C | CA407415760 | NLRP12 | c.804C>G (p.Ile268Met) c.636C>G (p.Ile212Met) c.387C>G (p.Ile129Met) | |
19 | g.53810855G= | CA2342536928 | NLRP12 | c.804C= (p.Ile268=) c.636C= (p.Ile212=) c.387C= (p.Ile129=) | |
19 | g.53810855G>T | CA508854282 | NLRP12 | c.804C>A (p.Ile268=) c.636C>A (p.Ile212=) c.387C>A (p.Ile129=) | |
19 | g.53810857_53810859del | CA997064045 | NLRP12 | c.802_804del (p.Ile268del) c.634_636del (p.Ile212del) c.385_387del (p.Ile129del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.53810856A= | CA2342536929 | NLRP12 | c.803T= (p.Ile268=) c.635T= (p.Ile212=) c.386T= (p.Ile129=) | |
19 | g.53810856A>C | CA407415761 | NLRP12 | c.803T>G (p.Ile268Ser) c.635T>G (p.Ile212Ser) c.386T>G (p.Ile129Ser) | |
19 | g.53810856A>G | CA407415762 | NLRP12 | c.803T>C (p.Ile268Thr) c.635T>C (p.Ile212Thr) c.386T>C (p.Ile129Thr) | dbSNP |
19 | g.53810856A>T | CA407415763 | NLRP12 | c.803T>A (p.Ile268Asn) c.635T>A (p.Ile212Asn) c.386T>A (p.Ile129Asn) | gnomAD v4 |
19 | g.53810857T>A | CA407415764 | NLRP12 | c.802A>T (p.Ile268Phe) c.634A>T (p.Ile212Phe) c.385A>T (p.Ile129Phe) | gnomAD v4 |
19 | g.53810857T>C | CA407415765 | NLRP12 | c.802A>G (p.Ile268Val) c.634A>G (p.Ile212Val) c.385A>G (p.Ile129Val) | ClinVar dbSNP gnomAD v4 |
19 | g.53810857T>G | CA407415766 | NLRP12 | c.802A>C (p.Ile268Leu) c.634A>C (p.Ile212Leu) c.385A>C (p.Ile129Leu) | |
19 | g.53810857T= | CA2342536930 | NLRP12 | c.802A= (p.Ile268=) c.634A= (p.Ile212=) c.385A= (p.Ile129=) | |
19 | g.53810858G>A | CA508854285 | NLRP12 | c.801C>T (p.Leu267=) c.633C>T (p.Leu211=) c.384C>T (p.Leu128=) | |
19 | g.53810858G>C | CA508854286 | NLRP12 | c.801C>G (p.Leu267=) c.633C>G (p.Leu211=) c.384C>G (p.Leu128=) | gnomAD v4 |
19 | g.53810858G>T | CA508854288 | NLRP12 | c.801C>A (p.Leu267=) c.633C>A (p.Leu211=) c.384C>A (p.Leu128=) | |
19 | g.53810859A>C | CA407415769 | NLRP12 | c.800T>G (p.Leu267Arg) c.632T>G (p.Leu211Arg) c.383T>G (p.Leu128Arg) | |
19 | g.53810859A>G | CA407415767 | NLRP12 | c.800T>C (p.Leu267Pro) c.632T>C (p.Leu211Pro) c.383T>C (p.Leu128Pro) | gnomAD v4 |
19 | g.53810859A>T | CA407415768 | NLRP12 | c.800T>A (p.Leu267His) c.632T>A (p.Leu211His) c.383T>A (p.Leu128His) | |
19 | g.53810860G>A | CA407415770 | NLRP12 | c.799C>T (p.Leu267Phe) c.631C>T (p.Leu211Phe) c.382C>T (p.Leu128Phe) | dbSNP |
19 | g.53810860G>C | CA407415771 | NLRP12 | c.799C>G (p.Leu267Val) c.631C>G (p.Leu211Val) c.382C>G (p.Leu128Val) | dbSNP gnomAD v4 |
19 | g.53810860G= | CA2342536931 | NLRP12 | c.799C= (p.Leu267=) c.631C= (p.Leu211=) c.382C= (p.Leu128=) | |
19 | g.53810860G>T | CA407415772 | NLRP12 | c.799C>A (p.Leu267Ile) c.631C>A (p.Leu211Ile) c.382C>A (p.Leu128Ile) | |
19 | g.53810861G>A | CA508854289 | NLRP12 | c.798C>T (p.Asp266=) c.630C>T (p.Asp210=) c.381C>T (p.Asp127=) | dbSNP gnomAD v2 |
19 | g.53810861G>C | CA407415773 | NLRP12 | c.798C>G (p.Asp266Glu) c.630C>G (p.Asp210Glu) c.381C>G (p.Asp127Glu) | |
19 | g.53810861G= | CA2342536932 | NLRP12 | c.798C= (p.Asp266=) c.630C= (p.Asp210=) c.381C= (p.Asp127=) | |
19 | g.53810861G>T | CA407415774 | NLRP12 | c.798C>A (p.Asp266Glu) c.630C>A (p.Asp210Glu) c.381C>A (p.Asp127Glu) | |
19 | g.53810862T>A | CA407415775 | NLRP12 | c.797A>T (p.Asp266Val) c.629A>T (p.Asp210Val) c.380A>T (p.Asp127Val) | |
19 | g.53810862T>C | CA407415777 | NLRP12 | c.797A>G (p.Asp266Gly) c.629A>G (p.Asp210Gly) c.380A>G (p.Asp127Gly) | |
19 | g.53810862T>G | CA407415776 | NLRP12 | c.797A>C (p.Asp266Ala) c.629A>C (p.Asp210Ala) c.380A>C (p.Asp127Ala) | |
19 | g.53810863C>A | CA407415778 | NLRP12 | c.796G>T (p.Asp266Tyr) c.628G>T (p.Asp210Tyr) c.379G>T (p.Asp127Tyr) | COSMIC COSMIC |
19 | g.53810863C>G | CA407415779 | NLRP12 | c.796G>C (p.Asp266His) c.628G>C (p.Asp210His) c.379G>C (p.Asp127His) | |
19 | g.53810863C>T | CA407415780 | NLRP12 | c.796G>A (p.Asp266Asn) c.628G>A (p.Asp210Asn) c.379G>A (p.Asp127Asn) | |
19 | g.53810864T>A | CA407415781 | NLRP12 | c.795A>T (p.Gln265His) c.627A>T (p.Gln209His) c.378A>T (p.Gln126His) | |
19 | g.53810864T>C | CA508854292 | NLRP12 | c.795A>G (p.Gln265=) c.627A>G (p.Gln209=) c.378A>G (p.Gln126=) | |
19 | g.53810864T>G | CA407415782 | NLRP12 | c.795A>C (p.Gln265His) c.627A>C (p.Gln209His) c.378A>C (p.Gln126His) | |
19 | g.53810865T>A | CA407415785 | NLRP12 | c.794A>T (p.Gln265Leu) c.626A>T (p.Gln209Leu) c.377A>T (p.Gln126Leu) | |
19 | g.53810865T>C | CA407415784 | NLRP12 | c.794A>G (p.Gln265Arg) c.626A>G (p.Gln209Arg) c.377A>G (p.Gln126Arg) | ClinVar |
19 | g.53810865T>G | CA407415783 | NLRP12 | c.794A>C (p.Gln265Pro) c.626A>C (p.Gln209Pro) c.377A>C (p.Gln126Pro) | |
19 | g.53810870_53810876dup | CA2586956547 | NLRP12 | c.788_794dup (p.Asp266HisfsTer11) c.620_626dup (p.Asp210HisfsTer11) c.371_377dup (p.Asp127HisfsTer11) | gnomAD v4 |
19 | g.53810866G>A | CA407415786 | NLRP12 | c.793C>T (p.Gln265Ter) c.625C>T (p.Gln209Ter) c.376C>T (p.Gln126Ter) | |
19 | g.53810866G>C | CA407415787 | NLRP12 | c.793C>G (p.Gln265Glu) c.625C>G (p.Gln209Glu) c.376C>G (p.Gln126Glu) | |
19 | g.53810866G>T | CA407415788 | NLRP12 | c.793C>A (p.Gln265Lys) c.625C>A (p.Gln209Lys) c.376C>A (p.Gln126Lys) | |
19 | g.53810867C>A | CA407415789 | NLRP12 | c.792G>T (p.Met264Ile) c.624G>T (p.Met208Ile) c.375G>T (p.Met125Ile) | dbSNP gnomAD v2 |
19 | g.53810867C= | CA2342536933 | NLRP12 | c.792G= (p.Met264=) c.624G= (p.Met208=) c.375G= (p.Met125=) | |
19 | g.53810867C>G | CA407415790 | NLRP12 | c.792G>C (p.Met264Ile) c.624G>C (p.Met208Ile) c.375G>C (p.Met125Ile) | |
19 | g.53810867C>T | CA407415791 | NLRP12 | c.792G>A (p.Met264Ile) c.624G>A (p.Met208Ile) c.375G>A (p.Met125Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.53810868A= | CA2342536934 | NLRP12 | c.791T= (p.Met264=) c.623T= (p.Met208=) c.374T= (p.Met125=) | |
19 | g.53810868A>C | CA407415792 | NLRP12 | c.791T>G (p.Met264Arg) c.623T>G (p.Met208Arg) c.374T>G (p.Met125Arg) | |
19 | g.53810868A>G | CA407415794 | NLRP12 | c.791T>C (p.Met264Thr) c.623T>C (p.Met208Thr) c.374T>C (p.Met125Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.53810868A>T | CA407415793 | NLRP12 | c.791T>A (p.Met264Lys) c.623T>A (p.Met208Lys) c.374T>A (p.Met125Lys) | |
19 | g.53810869T>A | CA407415795 | NLRP12 | c.790A>T (p.Met264Leu) c.622A>T (p.Met208Leu) c.373A>T (p.Met125Leu) | dbSNP |
19 | g.53810869T>C | CA407415796 | NLRP12 | c.790A>G (p.Met264Val) c.622A>G (p.Met208Val) c.373A>G (p.Met125Val) | |
19 | g.53810869T>G | CA407415797 | NLRP12 | c.790A>C (p.Met264Leu) c.622A>C (p.Met208Leu) c.373A>C (p.Met125Leu) | |
19 | g.53810869T= | CA2342536935 | NLRP12 | c.790A= (p.Met264=) c.622A= (p.Met208=) c.373A= (p.Met125=) | |
19 | g.53810870G>A | CA508854342 | NLRP12 | c.789C>T (p.Ser263=) c.621C>T (p.Ser207=) c.372C>T (p.Ser124=) | dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.53810870G>C | CA407415798 | NLRP12 | c.789C>G (p.Ser263Arg) c.621C>G (p.Ser207Arg) c.372C>G (p.Ser124Arg) | |
19 | g.53810870G= | CA2342536936 | NLRP12 | c.789C= (p.Ser263=) c.621C= (p.Ser207=) c.372C= (p.Ser124=) | |
19 | g.53810870G>T | CA407415799 | NLRP12 | c.789C>A (p.Ser263Arg) c.621C>A (p.Ser207Arg) c.372C>A (p.Ser124Arg) | |
19 | g.53810871C>A | CA407415800 | NLRP12 | c.788G>T (p.Ser263Ile) c.620G>T (p.Ser207Ile) c.371G>T (p.Ser124Ile) | |
19 | g.53810871C>G | CA407415801 | NLRP12 | c.788G>C (p.Ser263Thr) c.620G>C (p.Ser207Thr) c.371G>C (p.Ser124Thr) | |
19 | g.53810871C>T | CA407415802 | NLRP12 | c.788G>A (p.Ser263Asn) c.620G>A (p.Ser207Asn) c.371G>A (p.Ser124Asn) | COSMIC COSMIC |
19 | g.53810872T>A | CA407415803 | NLRP12 | c.787A>T (p.Ser263Cys) c.619A>T (p.Ser207Cys) c.370A>T (p.Ser124Cys) | |
19 | g.53810872T>C | CA407415804 | NLRP12 | c.787A>G (p.Ser263Gly) c.619A>G (p.Ser207Gly) c.370A>G (p.Ser124Gly) | |
19 | g.53810872T>G | CA407415805 | NLRP12 | c.787A>C (p.Ser263Arg) c.619A>C (p.Ser207Arg) c.370A>C (p.Ser124Arg) | |
19 | g.53810873G>A | CA9639610 | NLRP12 | c.786C>T (p.Cys262=) c.618C>T (p.Cys206=) c.369C>T (p.Cys123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.53810873G>C | CA407415807 | NLRP12 | c.786C>G (p.Cys262Trp) c.618C>G (p.Cys206Trp) c.369C>G (p.Cys123Trp) | |
19 | g.53810873G= | CA2342536937 | NLRP12 | c.786C= (p.Cys262=) c.618C= (p.Cys206=) c.369C= (p.Cys123=) | |
19 | g.53810873G>T | CA407415806 | NLRP12 | c.786C>A (p.Cys262Ter) c.618C>A (p.Cys206Ter) c.369C>A (p.Cys123Ter) | |
19 | g.53810874C>A | CA407415808 | NLRP12 | c.785G>T (p.Cys262Phe) c.617G>T (p.Cys206Phe) c.368G>T (p.Cys123Phe) | |
19 | g.53810874C>G | CA407415810 | NLRP12 | c.785G>C (p.Cys262Ser) c.617G>C (p.Cys206Ser) c.368G>C (p.Cys123Ser) | |
19 | g.53810874C>T | CA407415809 | NLRP12 | c.785G>A (p.Cys262Tyr) c.617G>A (p.Cys206Tyr) c.368G>A (p.Cys123Tyr) | gnomAD v4 |
19 | g.53810875A= | CA2342536938 | NLRP12 | c.784T= (p.Cys262=) c.616T= (p.Cys206=) c.367T= (p.Cys123=) | |
19 | g.53810875A>C | CA407415811 | NLRP12 | c.784T>G (p.Cys262Gly) c.616T>G (p.Cys206Gly) c.367T>G (p.Cys123Gly) | gnomAD v4 |
19 | g.53810875A>G | CA407415812 | NLRP12 | c.784T>C (p.Cys262Arg) c.616T>C (p.Cys206Arg) c.367T>C (p.Cys123Arg) | gnomAD v4 |
19 | g.53810875A>T | CA9639611 | NLRP12 | c.784T>A (p.Cys262Ser) c.616T>A (p.Cys206Ser) c.367T>A (p.Cys123Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.53810876T>A | CA407415813 | NLRP12 | c.783A>T (p.Glu261Asp) c.615A>T (p.Glu205Asp) c.366A>T (p.Glu122Asp) | |
19 | g.53810876T>C | CA508854346 | NLRP12 | c.783A>G (p.Glu261=) c.615A>G (p.Glu205=) c.366A>G (p.Glu122=) | |
19 | g.53810876T>G | CA407415814 | NLRP12 | c.783A>C (p.Glu261Asp) c.615A>C (p.Glu205Asp) c.366A>C (p.Glu122Asp) | dbSNP |
19 | g.53810876T= | CA2342536939 | NLRP12 | c.783A= (p.Glu261=) c.615A= (p.Glu205=) c.366A= (p.Glu122=) | |
19 | g.53810877T>A | CA407415815 | NLRP12 | c.782A>T (p.Glu261Val) c.614A>T (p.Glu205Val) c.365A>T (p.Glu122Val) | |
19 | g.53810877T>C | CA407415816 | NLRP12 | c.782A>G (p.Glu261Gly) c.614A>G (p.Glu205Gly) c.365A>G (p.Glu122Gly) | |
19 | g.53810877T>G | CA407415817 | NLRP12 | c.782A>C (p.Glu261Ala) c.614A>C (p.Glu205Ala) c.365A>C (p.Glu122Ala) | |
19 | g.53810878C>A | CA310071013 | NLRP12 | c.781G>T (p.Glu261Ter) c.613G>T (p.Glu205Ter) c.364G>T (p.Glu122Ter) | dbSNP |
19 | g.53810878C= | CA2342536940 | NLRP12 | c.781G= (p.Glu261=) c.613G= (p.Glu205=) c.364G= (p.Glu122=) | |
19 | g.53810878C>G | CA407415818 | NLRP12 | c.781G>C (p.Glu261Gln) c.613G>C (p.Glu205Gln) c.364G>C (p.Glu122Gln) | |
19 | g.53810878C>T | CA407415819 | NLRP12 | c.781G>A (p.Glu261Lys) c.613G>A (p.Glu205Lys) c.364G>A (p.Glu122Lys) | |
19 | g.53810879C>A | CA508854348 | NLRP12 | c.780G>T (p.Thr260=) c.612G>T (p.Thr204=) c.363G>T (p.Thr121=) | |
19 | g.53810879C= | CA2342536941 | NLRP12 | c.780G= (p.Thr260=) c.612G= (p.Thr204=) c.363G= (p.Thr121=) | |
19 | g.53810879C>G | CA508854349 | NLRP12 | c.780G>C (p.Thr260=) c.612G>C (p.Thr204=) c.363G>C (p.Thr121=) | dbSNP gnomAD v2 |
19 | g.53810879C>T | CA9639612 | NLRP12 | c.780G>A (p.Thr260=) c.612G>A (p.Thr204=) c.363G>A (p.Thr121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810880G>A | CA9639613 | NLRP12 | c.779C>T (p.Thr260Met) c.611C>T (p.Thr204Met) c.362C>T (p.Thr121Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810880G>C | CA407415820 | NLRP12 | c.779C>G (p.Thr260Arg) c.611C>G (p.Thr204Arg) c.362C>G (p.Thr121Arg) | |
19 | g.53810880G= | CA2342536942 | NLRP12 | c.779C= (p.Thr260=) c.611C= (p.Thr204=) c.362C= (p.Thr121=) | |
19 | g.53810880G>T | CA407415821 | NLRP12 | c.779C>A (p.Thr260Lys) c.611C>A (p.Thr204Lys) c.362C>A (p.Thr121Lys) | dbSNP |
19 | g.53810881T>A | CA407415822 | NLRP12 | c.778A>T (p.Thr260Ser) c.610A>T (p.Thr204Ser) c.361A>T (p.Thr121Ser) | |
19 | g.53810881T>C | CA407415823 | NLRP12 | c.778A>G (p.Thr260Ala) c.610A>G (p.Thr204Ala) c.361A>G (p.Thr121Ala) | gnomAD v4 |
19 | g.53810881T>G | CA407415824 | NLRP12 | c.778A>C (p.Thr260Pro) c.610A>C (p.Thr204Pro) c.361A>C (p.Thr121Pro) | |
19 | g.53810882G>A | CA9639614 | NLRP12 | c.777C>T (p.Ala259=) c.609C>T (p.Ala203=) c.360C>T (p.Ala120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810882G>C | CA310071029 | NLRP12 | c.777C>G (p.Ala259=) c.609C>G (p.Ala203=) c.360C>G (p.Ala120=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810882G= | CA2342536943 | NLRP12 | c.777C= (p.Ala259=) c.609C= (p.Ala203=) c.360C= (p.Ala120=) | |
19 | g.53810882G>T | CA508854351 | NLRP12 | c.777C>A (p.Ala259=) c.609C>A (p.Ala203=) c.360C>A (p.Ala120=) | |
19 | g.53810883G>A | CA407415825 | NLRP12 | c.776C>T (p.Ala259Val) c.608C>T (p.Ala203Val) c.359C>T (p.Ala120Val) | gnomAD v4 |
19 | g.53810883G>C | CA407415826 | NLRP12 | c.776C>G (p.Ala259Gly) c.608C>G (p.Ala203Gly) c.359C>G (p.Ala120Gly) | |
19 | g.53810883G>T | CA407415827 | NLRP12 | c.776C>A (p.Ala259Asp) c.608C>A (p.Ala203Asp) c.359C>A (p.Ala120Asp) | |
19 | g.53810884C>A | CA407415828 | NLRP12 | c.775G>T (p.Ala259Ser) c.607G>T (p.Ala203Ser) c.358G>T (p.Ala120Ser) | |
19 | g.53810884C>G | CA407415829 | NLRP12 | c.775G>C (p.Ala259Pro) c.607G>C (p.Ala203Pro) c.358G>C (p.Ala120Pro) | |
19 | g.53810884C>T | CA407415830 | NLRP12 | c.775G>A (p.Ala259Thr) c.607G>A (p.Ala203Thr) c.358G>A (p.Ala120Thr) | |
19 | g.53810885A= | CA2342536944 | NLRP12 | c.774T= (p.Ser258=) c.606T= (p.Ser202=) c.357T= (p.Ser119=) | |
19 | g.53810885A>C | CA407415831 | NLRP12 | c.774T>G (p.Ser258Arg) c.606T>G (p.Ser202Arg) c.357T>G (p.Ser119Arg) | gnomAD v4 |
19 | g.53810885A>G | CA508854353 | NLRP12 | c.774T>C (p.Ser258=) c.606T>C (p.Ser202=) c.357T>C (p.Ser119=) | dbSNP |
19 | g.53810885A>T | CA407415832 | NLRP12 | c.774T>A (p.Ser258Arg) c.606T>A (p.Ser202Arg) c.357T>A (p.Ser119Arg) | |
19 | g.53810886C>A | CA407415833 | NLRP12 | c.773G>T (p.Ser258Ile) c.605G>T (p.Ser202Ile) c.356G>T (p.Ser119Ile) | |
19 | g.53810886C>G | CA407415834 | NLRP12 | c.773G>C (p.Ser258Thr) c.605G>C (p.Ser202Thr) c.356G>C (p.Ser119Thr) | |
19 | g.53810886C>T | CA407415835 | NLRP12 | c.773G>A (p.Ser258Asn) c.605G>A (p.Ser202Asn) c.356G>A (p.Ser119Asn) | COSMIC COSMIC |
19 | g.53810887T>A | CA407415836 | NLRP12 | c.772A>T (p.Ser258Cys) c.604A>T (p.Ser202Cys) c.355A>T (p.Ser119Cys) | gnomAD v4 |
19 | g.53810887T>C | CA407415837 | NLRP12 | c.772A>G (p.Ser258Gly) c.604A>G (p.Ser202Gly) c.355A>G (p.Ser119Gly) | |
19 | g.53810887T>G | CA407415838 | NLRP12 | c.772A>C (p.Ser258Arg) c.604A>C (p.Ser202Arg) c.355A>C (p.Ser119Arg) | |
19 | g.53810888C>A | CA407415839 | NLRP12 | c.771G>T (p.Gln257His) c.603G>T (p.Gln201His) c.354G>T (p.Gln118His) | |
19 | g.53810888C= | CA2342536945 | NLRP12 | c.771G= (p.Gln257=) c.603G= (p.Gln201=) c.354G= (p.Gln118=) | |
19 | g.53810888C>G | CA407415840 | NLRP12 | c.771G>C (p.Gln257His) c.603G>C (p.Gln201His) c.354G>C (p.Gln118His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.53810888C>T | CA508854355 | NLRP12 | c.771G>A (p.Gln257=) c.603G>A (p.Gln201=) c.354G>A (p.Gln118=) | |
19 | g.53810889del | CA2573156817 | NLRP12 | c.770del (p.Gln257ArgfsTer?) c.602del (p.Gln201ArgfsTer?) c.353del (p.Gln118ArgfsTer?) | ClinVar dbSNP |
19 | g.53810889T>A | CA407415841 | NLRP12 | c.770A>T (p.Gln257Leu) c.602A>T (p.Gln201Leu) c.353A>T (p.Gln118Leu) | |
19 | g.53810889T>C | CA407415842 | NLRP12 | c.770A>G (p.Gln257Arg) c.602A>G (p.Gln201Arg) c.353A>G (p.Gln118Arg) | |
19 | g.53810889T>G | CA407415843 | NLRP12 | c.770A>C (p.Gln257Pro) c.602A>C (p.Gln201Pro) c.353A>C (p.Gln118Pro) | |
19 | g.53810889T= | CA2342536946 | NLRP12 | c.770A= (p.Gln257=) c.602A= (p.Gln201=) c.353A= (p.Gln118=) | |
19 | g.53810890G>A | CA407415844 | NLRP12 | c.769C>T (p.Gln257Ter) c.601C>T (p.Gln201Ter) c.352C>T (p.Gln118Ter) | |
19 | g.53810890G>C | CA407415845 | NLRP12 | c.769C>G (p.Gln257Glu) c.601C>G (p.Gln201Glu) c.352C>G (p.Gln118Glu) | |
19 | g.53810890G>T | CA407415846 | NLRP12 | c.769C>A (p.Gln257Lys) c.601C>A (p.Gln201Lys) c.352C>A (p.Gln118Lys) | |
19 | g.53810891dup | CA633905317 | NLRP12 | c.769dup (p.Gln257ProfsTer18) c.601dup (p.Gln201ProfsTer18) c.352dup (p.Gln118ProfsTer18) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810891G>A | CA508854358 | NLRP12 | c.768C>T (p.Asn256=) c.600C>T (p.Asn200=) c.351C>T (p.Asn117=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810891G>C | CA407415847 | NLRP12 | c.768C>G (p.Asn256Lys) c.600C>G (p.Asn200Lys) c.351C>G (p.Asn117Lys) | |
19 | g.53810891G= | CA2342536947 | NLRP12 | c.768C= (p.Asn256=) c.600C= (p.Asn200=) c.351C= (p.Asn117=) | |
19 | g.53810891G>T | CA407415848 | NLRP12 | c.768C>A (p.Asn256Lys) c.600C>A (p.Asn200Lys) c.351C>A (p.Asn117Lys) | |
19 | g.53810892T>A | CA407415849 | NLRP12 | c.767A>T (p.Asn256Ile) c.599A>T (p.Asn200Ile) c.350A>T (p.Asn117Ile) | |
19 | g.53810892T>C | CA407415850 | NLRP12 | c.767A>G (p.Asn256Ser) c.599A>G (p.Asn200Ser) c.350A>G (p.Asn117Ser) | |
19 | g.53810892T>G | CA310071031 | NLRP12 | c.767A>C (p.Asn256Thr) c.599A>C (p.Asn200Thr) c.350A>C (p.Asn117Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.53810892T= | CA2342536948 | NLRP12 | c.767A= (p.Asn256=) c.599A= (p.Asn200=) c.350A= (p.Asn117=) | |
19 | g.53810893T>A | CA407415851 | NLRP12 | c.766A>T (p.Asn256Tyr) c.598A>T (p.Asn200Tyr) c.349A>T (p.Asn117Tyr) | |
19 | g.53810893T>C | CA407415852 | NLRP12 | c.766A>G (p.Asn256Asp) c.598A>G (p.Asn200Asp) c.349A>G (p.Asn117Asp) | |
19 | g.53810893T>G | CA407415853 | NLRP12 | c.766A>C (p.Asn256His) c.598A>C (p.Asn200His) c.349A>C (p.Asn117His) | |
19 | g.53810894C>A | CA407415854 | NLRP12 | c.765G>T (p.Met255Ile) c.597G>T (p.Met199Ile) c.348G>T (p.Met116Ile) | |
19 | g.53810894C>G | CA407415855 | NLRP12 | c.765G>C (p.Met255Ile) c.597G>C (p.Met199Ile) c.348G>C (p.Met116Ile) | |
19 | g.53810894C>T | CA407415856 | NLRP12 | c.765G>A (p.Met255Ile) c.597G>A (p.Met199Ile) c.348G>A (p.Met116Ile) | ClinVar |
19 | g.53810895A= | CA2342536949 | NLRP12 | c.764T= (p.Met255=) c.596T= (p.Met199=) c.347T= (p.Met116=) | |
19 | g.53810895A>C | CA407415857 | NLRP12 | c.764T>G (p.Met255Arg) c.596T>G (p.Met199Arg) c.347T>G (p.Met116Arg) | dbSNP gnomAD v4 |
19 | g.53810895A>G | CA407415858 | NLRP12 | c.764T>C (p.Met255Thr) c.596T>C (p.Met199Thr) c.347T>C (p.Met116Thr) | ClinVar dbSNP |
19 | g.53810895A>T | CA407415859 | NLRP12 | c.764T>A (p.Met255Lys) c.596T>A (p.Met199Lys) c.347T>A (p.Met116Lys) | |
19 | g.53810896T>A | CA407415861 | NLRP12 | c.763A>T (p.Met255Leu) c.595A>T (p.Met199Leu) c.346A>T (p.Met116Leu) | |
19 | g.53810896T>C | CA407415862 | NLRP12 | c.763A>G (p.Met255Val) c.595A>G (p.Met199Val) c.346A>G (p.Met116Val) | |
19 | g.53810896T>G | CA407415860 | NLRP12 | c.763A>C (p.Met255Leu) c.595A>C (p.Met199Leu) c.346A>C (p.Met116Leu) | |
19 | g.53810897C>A | CA407415864 | NLRP12 | c.762G>T (p.Glu254Asp) c.594G>T (p.Glu198Asp) c.345G>T (p.Glu115Asp) | |
19 | g.53810897C>G | CA407415863 | NLRP12 | c.762G>C (p.Glu254Asp) c.594G>C (p.Glu198Asp) c.345G>C (p.Glu115Asp) | |
19 | g.53810897C>T | CA508854360 | NLRP12 | c.762G>A (p.Glu254=) c.594G>A (p.Glu198=) c.345G>A (p.Glu115=) | |
19 | g.53810898T>A | CA407415865 | NLRP12 | c.761A>T (p.Glu254Val) c.593A>T (p.Glu198Val) c.344A>T (p.Glu115Val) | |
19 | g.53810898T>C | CA407415866 | NLRP12 | c.761A>G (p.Glu254Gly) c.593A>G (p.Glu198Gly) c.344A>G (p.Glu115Gly) | |
19 | g.53810898T>G | CA407415867 | NLRP12 | c.761A>C (p.Glu254Ala) c.593A>C (p.Glu198Ala) c.344A>C (p.Glu115Ala) | gnomAD v4 |
19 | g.53810899C>A | CA9639615 | NLRP12 | c.760G>T (p.Glu254Ter) c.592G>T (p.Glu198Ter) c.343G>T (p.Glu115Ter) | dbSNP ExAC gnomAD v2 |
19 | g.53810899C= | CA2342536950 | NLRP12 | c.760G= (p.Glu254=) c.592G= (p.Glu198=) c.343G= (p.Glu115=) | |
19 | g.53810899C>G | CA407415868 | NLRP12 | c.760G>C (p.Glu254Gln) c.592G>C (p.Glu198Gln) c.343G>C (p.Glu115Gln) | |
19 | g.53810899C>T | CA407415869 | NLRP12 | c.760G>A (p.Glu254Lys) c.592G>A (p.Glu198Lys) c.343G>A (p.Glu115Lys) | gnomAD v4 |
19 | g.53810900C>A | CA407415870 | NLRP12 | c.759G>T (p.Arg253Ser) c.591G>T (p.Arg197Ser) c.342G>T (p.Arg114Ser) | gnomAD v4 |
19 | g.53810900C>G | CA407415871 | NLRP12 | c.759G>C (p.Arg253Ser) c.591G>C (p.Arg197Ser) c.342G>C (p.Arg114Ser) | |
19 | g.53810900C>T | CA508854363 | NLRP12 | c.759G>A (p.Arg253=) c.591G>A (p.Arg197=) c.342G>A (p.Arg114=) | gnomAD v4 |
19 | g.53810901C>A | CA407415872 | NLRP12 | c.758G>T (p.Arg253Met) c.590G>T (p.Arg197Met) c.341G>T (p.Arg114Met) | |
19 | g.53810901C>G | CA407415873 | NLRP12 | c.758G>C (p.Arg253Thr) c.590G>C (p.Arg197Thr) c.341G>C (p.Arg114Thr) | gnomAD v4 |
19 | g.53810901C>T | CA407415874 | NLRP12 | c.758G>A (p.Arg253Lys) c.590G>A (p.Arg197Lys) c.341G>A (p.Arg114Lys) | |
19 | g.53810902T>A | CA407415875 | NLRP12 | c.757A>T (p.Arg253Trp) c.589A>T (p.Arg197Trp) c.340A>T (p.Arg114Trp) | dbSNP |
19 | g.53810902T>C | CA407415876 | NLRP12 | c.757A>G (p.Arg253Gly) c.589A>G (p.Arg197Gly) c.340A>G (p.Arg114Gly) | gnomAD v4 |
19 | g.53810902T>G | CA508854364 | NLRP12 | c.757A>C (p.Arg253=) c.589A>C (p.Arg197=) c.340A>C (p.Arg114=) | gnomAD v4 |
19 | g.53810903G>A | CA9639616 | NLRP12 | c.756C>T (p.Cys252=) c.588C>T (p.Cys196=) c.339C>T (p.Cys113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.53810903G>C | CA407415878 | NLRP12 | c.756C>G (p.Cys252Trp) c.588C>G (p.Cys196Trp) c.339C>G (p.Cys113Trp) | |
19 | g.53810903G= | CA2342536951 | NLRP12 | c.756C= (p.Cys252=) c.588C= (p.Cys196=) c.339C= (p.Cys113=) | |
19 | g.53810903G>T | CA407415877 | NLRP12 | c.756C>A (p.Cys252Ter) c.588C>A (p.Cys196Ter) c.339C>A (p.Cys113Ter) | |
19 | g.53810904C>A | CA407415879 | NLRP12 | c.755G>T (p.Cys252Phe) c.587G>T (p.Cys196Phe) c.338G>T (p.Cys113Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.53810904C= | CA2342536952 | NLRP12 | c.755G= (p.Cys252=) c.587G= (p.Cys196=) c.338G= (p.Cys113=) | |
19 | g.53810904C>G | CA407415880 | NLRP12 | c.755G>C (p.Cys252Ser) c.587G>C (p.Cys196Ser) c.338G>C (p.Cys113Ser) | |
19 | g.53810904C>T | CA407415881 | NLRP12 | c.755G>A (p.Cys252Tyr) c.587G>A (p.Cys196Tyr) c.338G>A (p.Cys113Tyr) | |
19 | g.53810905A>C | CA407415882 | NLRP12 | c.754T>G (p.Cys252Gly) c.586T>G (p.Cys196Gly) c.337T>G (p.Cys113Gly) | |
19 | g.53810905A>G | CA407415883 | NLRP12 | c.754T>C (p.Cys252Arg) c.586T>C (p.Cys196Arg) c.337T>C (p.Cys113Arg) | |
19 | g.53810905A>T | CA407415884 | NLRP12 | c.754T>A (p.Cys252Ser) c.586T>A (p.Cys196Ser) c.337T>A (p.Cys113Ser) | |
19 | g.53810906del | CA2586956548 | NLRP12 | c.753del (p.Cys252AlafsTer4) c.585del (p.Cys196AlafsTer4) c.336del (p.Cys113AlafsTer4) | gnomAD v4 |
19 | g.53810906G>A | CA508854370 | NLRP12 | c.753C>T (p.Asn251=) c.585C>T (p.Asn195=) c.336C>T (p.Asn112=) | ClinVar |
19 | g.53810906G>C | CA9639617 | NLRP12 | c.753C>G (p.Asn251Lys) c.585C>G (p.Asn195Lys) c.336C>G (p.Asn112Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810906G= | CA2342536953 | NLRP12 | c.753C= (p.Asn251=) c.585C= (p.Asn195=) c.336C= (p.Asn112=) | |
19 | g.53810906G>T | CA407415885 | NLRP12 | c.753C>A (p.Asn251Lys) c.585C>A (p.Asn195Lys) c.336C>A (p.Asn112Lys) | gnomAD v4 |
19 | g.53810906_53810907delinsGT | CA2342536954 | NLRP12 | c.752_753delinsAC (p.Asn251=) c.584_585delinsAC (p.Asn195=) c.335_336delinsAC (p.Asn112=) | |
19 | g.53810907T>A | CA407415886 | NLRP12 | c.752A>T (p.Asn251Ile) c.584A>T (p.Asn195Ile) c.335A>T (p.Asn112Ile) | |
19 | g.53810907T>C | CA9639618 | NLRP12 | c.752A>G (p.Asn251Ser) c.584A>G (p.Asn195Ser) c.335A>G (p.Asn112Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810907T>G | CA407415887 | NLRP12 | c.752A>C (p.Asn251Thr) c.584A>C (p.Asn195Thr) c.335A>C (p.Asn112Thr) | |
19 | g.53810907T= | CA2342536956 | NLRP12 | c.752A= (p.Asn251=) c.584A= (p.Asn195=) c.335A= (p.Asn112=) | |
19 | g.53810908del | CA2342536955 | NLRP12 | c.752del (p.Asn251ThrfsTer5) c.584del (p.Asn195ThrfsTer5) c.335del (p.Asn112ThrfsTer5) | dbSNP |
19 | g.53810908T>A | CA407415888 | NLRP12 | c.751A>T (p.Asn251Tyr) c.583A>T (p.Asn195Tyr) c.334A>T (p.Asn112Tyr) | |
19 | g.53810908T>C | CA407415889 | NLRP12 | c.751A>G (p.Asn251Asp) c.583A>G (p.Asn195Asp) c.334A>G (p.Asn112Asp) | |
19 | g.53810908T>G | CA407415890 | NLRP12 | c.751A>C (p.Asn251His) c.583A>C (p.Asn195His) c.334A>C (p.Asn112His) | |
19 | g.53810909G>A | CA508854374 | NLRP12 | c.750C>T (p.Ile250=) c.582C>T (p.Ile194=) c.333C>T (p.Ile111=) | ClinVar dbSNP COSMIC COSMIC |
19 | g.53810909G>C | CA407415891 | NLRP12 | c.750C>G (p.Ile250Met) c.582C>G (p.Ile194Met) c.333C>G (p.Ile111Met) | |
19 | g.53810909G>T | CA508854375 | NLRP12 | c.750C>A (p.Ile250=) c.582C>A (p.Ile194=) c.333C>A (p.Ile111=) | dbSNP |
19 | g.53810910A= | CA2342536957 | NLRP12 | c.749T= (p.Ile250=) c.581T= (p.Ile194=) c.332T= (p.Ile111=) | |
19 | g.53810910A>C | CA407415892 | NLRP12 | c.749T>G (p.Ile250Ser) c.581T>G (p.Ile194Ser) c.332T>G (p.Ile111Ser) | |
19 | g.53810910A>G | CA407415893 | NLRP12 | c.749T>C (p.Ile250Thr) c.581T>C (p.Ile194Thr) c.332T>C (p.Ile111Thr) | |
19 | g.53810910A>T | CA310071044 | NLRP12 | c.749T>A (p.Ile250Asn) c.581T>A (p.Ile194Asn) c.332T>A (p.Ile111Asn) | ClinVar dbSNP |
19 | g.53810911T>A | CA407415894 | NLRP12 | c.748A>T (p.Ile250Phe) c.580A>T (p.Ile194Phe) c.331A>T (p.Ile111Phe) | ClinVar dbSNP gnomAD v4 |
19 | g.53810911T>C | CA407415895 | NLRP12 | c.748A>G (p.Ile250Val) c.580A>G (p.Ile194Val) c.331A>G (p.Ile111Val) | ClinVar dbSNP gnomAD v4 |
19 | g.53810911T>G | CA407415896 | NLRP12 | c.748A>C (p.Ile250Leu) c.580A>C (p.Ile194Leu) c.331A>C (p.Ile111Leu) | |
19 | g.53810911T= | CA2342536958 | NLRP12 | c.748A= (p.Ile250=) c.580A= (p.Ile194=) c.331A= (p.Ile111=) | |
19 | g.53810912G>A | CA508854378 | NLRP12 | c.747C>T (p.Tyr249=) c.579C>T (p.Tyr193=) c.330C>T (p.Tyr110=) | dbSNP gnomAD v4 |
19 | g.53810912G>C | CA407415897 | NLRP12 | c.747C>G (p.Tyr249Ter) c.579C>G (p.Tyr193Ter) c.330C>G (p.Tyr110Ter) | |
19 | g.53810912G= | CA2342536959 | NLRP12 | c.747C= (p.Tyr249=) c.579C= (p.Tyr193=) c.330C= (p.Tyr110=) | |
19 | g.53810912G>T | CA407415898 | NLRP12 | c.747C>A (p.Tyr249Ter) c.579C>A (p.Tyr193Ter) c.330C>A (p.Tyr110Ter) | gnomAD v4 |
19 | g.53810913T>A | CA407415899 | NLRP12 | c.746A>T (p.Tyr249Phe) c.578A>T (p.Tyr193Phe) c.329A>T (p.Tyr110Phe) | |
19 | g.53810913T>C | CA407415900 | NLRP12 | c.746A>G (p.Tyr249Cys) c.578A>G (p.Tyr193Cys) c.329A>G (p.Tyr110Cys) | |
19 | g.53810913T>G | CA407415901 | NLRP12 | c.746A>C (p.Tyr249Ser) c.578A>C (p.Tyr193Ser) c.329A>C (p.Tyr110Ser) | gnomAD v4 |