Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.18122198_18122199insTACCACCACGACACGCCCCGTCTT | CA2677455916 | NHLRC1 | c.431_432insAAAGACGGGGCGTGTCGTGGTGGT (p.Val144_His145insLysThrGlyArgValValValVal) | gnomAD v4 |
6 | g.18122187A>C | CA448958394 | NHLRC1 | c.420T>G (p.Arg140=) | gnomAD v4 |
6 | g.18122187A>G | CA448958395 | NHLRC1 | c.420T>C (p.Arg140=) | |
6 | g.18122187A>T | CA448958396 | NHLRC1 | c.420T>A (p.Arg140=) | |
6 | g.18122188C>A | CA362828487 | NHLRC1 | c.419G>T (p.Arg140Leu) | dbSNP |
6 | g.18122188C= | CA1613536452 | NHLRC1 | c.419G= (p.Arg140=) | |
6 | g.18122188C>G | CA362828489 | NHLRC1 | c.419G>C (p.Arg140Pro) | gnomAD v4 |
6 | g.18122188C>T | CA362828492 | NHLRC1 | c.419G>A (p.Arg140His) | gnomAD v4 |
6 | g.18122189G>A | CA3650000 | NHLRC1 | c.418C>T (p.Arg140Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18122189G>C | CA3650001 | NHLRC1 | c.418C>G (p.Arg140Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18122189G= | CA1613536453 | NHLRC1 | c.418C= (p.Arg140=) | |
6 | g.18122189G>T | CA362828494 | NHLRC1 | c.418C>A (p.Arg140Ser) | |
6 | g.18122190C>A | CA448958190 | NHLRC1 | c.417G>T (p.Gly139=) | gnomAD v4 |
6 | g.18122190C= | CA1613536454 | NHLRC1 | c.417G= (p.Gly139=) | |
6 | g.18122190C>G | CA448958191 | NHLRC1 | c.417G>C (p.Gly139=) | |
6 | g.18122190C>T | CA448958193 | NHLRC1 | c.417G>A (p.Gly139=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.18122191C>A | CA362828501 | NHLRC1 | c.416G>T (p.Gly139Val) | |
6 | g.18122191C>G | CA362828499 | NHLRC1 | c.416G>C (p.Gly139Ala) | |
6 | g.18122191C>T | CA362828503 | NHLRC1 | c.416G>A (p.Gly139Glu) | |
6 | g.18122192C>A | CA362828505 | NHLRC1 | c.415G>T (p.Gly139Trp) | |
6 | g.18122192C= | CA1613536455 | NHLRC1 | c.415G= (p.Gly139=) | |
6 | g.18122192C>G | CA362828507 | NHLRC1 | c.415G>C (p.Gly139Arg) | |
6 | g.18122192C>T | CA362828510 | NHLRC1 | c.415G>A (p.Gly139Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.18122193C>A | CA448958195 | NHLRC1 | c.414G>T (p.Thr138=) | gnomAD v4 |
6 | g.18122193C= | CA1613536456 | NHLRC1 | c.414G= (p.Thr138=) | |
6 | g.18122193C>G | CA134960006 | NHLRC1 | c.414G>C (p.Thr138=) | ClinVar dbSNP gnomAD v4 |
6 | g.18122193C>T | CA448958198 | NHLRC1 | c.414G>A (p.Thr138=) | gnomAD v4 |
6 | g.18122194G>A | CA362828513 | NHLRC1 | c.413C>T (p.Thr138Met) | gnomAD v4 |
6 | g.18122194G>C | CA362828514 | NHLRC1 | c.413C>G (p.Thr138Arg) | |
6 | g.18122194G>T | CA362828516 | NHLRC1 | c.413C>A (p.Thr138Lys) | |
6 | g.18122195T>A | CA362828519 | NHLRC1 | c.412A>T (p.Thr138Ser) | |
6 | g.18122195T>C | CA362828521 | NHLRC1 | c.412A>G (p.Thr138Ala) | dbSNP gnomAD v4 |
6 | g.18122195T>G | CA362828523 | NHLRC1 | c.412A>C (p.Thr138Pro) | |
6 | g.18122195T= | CA1613536457 | NHLRC1 | c.412A= (p.Thr138=) | |
6 | g.18122196C>A | CA362828527 | NHLRC1 | c.411G>T (p.Lys137Asn) | |
6 | g.18122196C= | CA1613536458 | NHLRC1 | c.411G= (p.Lys137=) | |
6 | g.18122196C>G | CA362828529 | NHLRC1 | c.411G>C (p.Lys137Asn) | dbSNP |
6 | g.18122196C>T | CA448958208 | NHLRC1 | c.411G>A (p.Lys137=) | |
6 | g.18122197T>A | CA362828534 | NHLRC1 | c.410A>T (p.Lys137Met) | |
6 | g.18122197T>C | CA362828530 | NHLRC1 | c.410A>G (p.Lys137Arg) | |
6 | g.18122197T>G | CA362828532 | NHLRC1 | c.410A>C (p.Lys137Thr) | |
6 | g.18122198T>A | CA362828536 | NHLRC1 | c.409A>T (p.Lys137Ter) | |
6 | g.18122198T>C | CA362828538 | NHLRC1 | c.409A>G (p.Lys137Glu) | |
6 | g.18122198T>G | CA3650002 | NHLRC1 | c.409A>C (p.Lys137Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18122198T= | CA1613536459 | NHLRC1 | c.409A= (p.Lys137=) | |
6 | g.18122199G>A | CA448958211 | NHLRC1 | c.408C>T (p.Pro136=) | dbSNP gnomAD v4 |
6 | g.18122199G>C | CA448958213 | NHLRC1 | c.408C>G (p.Pro136=) | |
6 | g.18122199G= | CA1613536460 | NHLRC1 | c.408C= (p.Pro136=) | |
6 | g.18122199G>T | CA448958214 | NHLRC1 | c.408C>A (p.Pro136=) | |
6 | g.18122200G>A | CA362828541 | NHLRC1 | c.407C>T (p.Pro136Leu) | ClinVar dbSNP COSMIC |