Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.18122175C>A | CA448958373 | NHLRC1 | c.432G>T (p.Val144=) | |
6 | g.18122175C= | CA1613536442 | NHLRC1 | c.432G= (p.Val144=) | |
6 | g.18122175C>G | CA448958376 | NHLRC1 | c.432G>C (p.Val144=) | |
6 | g.18122175C>T | CA448958374 | NHLRC1 | c.432G>A (p.Val144=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.18122176A= | CA1613536443 | NHLRC1 | c.431T= (p.Val144=) | |
6 | g.18122176A>C | CA362828059 | NHLRC1 | c.431T>G (p.Val144Gly) | dbSNP gnomAD v4 |
6 | g.18122176A>G | CA362828063 | NHLRC1 | c.431T>C (p.Val144Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.18122176A>T | CA362828061 | NHLRC1 | c.431T>A (p.Val144Glu) | |
6 | g.18122198_18122199insTACCACCACGACACGCCCCGTCTT | CA2677455916 | NHLRC1 | c.431_432insAAAGACGGGGCGTGTCGTGGTGGT (p.Val144_His145insLysThrGlyArgValValValVal) | gnomAD v4 |
6 | g.18122177C>A | CA362828065 | NHLRC1 | c.430G>T (p.Val144Leu) | |
6 | g.18122177C= | CA1613536444 | NHLRC1 | c.430G= (p.Val144=) | |
6 | g.18122177C>G | CA362828066 | NHLRC1 | c.430G>C (p.Val144Leu) | |
6 | g.18122177C>T | CA134959988 | NHLRC1 | c.430G>A (p.Val144Met) | dbSNP |
6 | g.18122178C>A | CA448958378 | NHLRC1 | c.429G>T (p.Val143=) | |
6 | g.18122178C>G | CA448958380 | NHLRC1 | c.429G>C (p.Val143=) | |
6 | g.18122178C>T | CA448958381 | NHLRC1 | c.429G>A (p.Val143=) | |
6 | g.18122179A>C | CA362828069 | NHLRC1 | c.428T>G (p.Val143Gly) | gnomAD v4 |
6 | g.18122179A>G | CA362828070 | NHLRC1 | c.428T>C (p.Val143Ala) | |
6 | g.18122179A>T | CA362828071 | NHLRC1 | c.428T>A (p.Val143Glu) | |
6 | g.18122179_18122180delinsAC | CA1613536445 | NHLRC1 | c.427_428delinsGT (p.Val143=) | |
6 | g.18122180C>A | CA362828072 | NHLRC1 | c.427G>T (p.Val143Leu) | |
6 | g.18122180C>G | CA362828073 | NHLRC1 | c.427G>C (p.Val143Leu) | gnomAD v4 |
6 | g.18122180C>T | CA362828074 | NHLRC1 | c.427G>A (p.Val143Met) | |
6 | g.18122181del | CA565829080 | NHLRC1 | c.427del (p.Val143TrpfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18122181C>A | CA3649997 | NHLRC1 | c.426G>T (p.Val142=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18122181C= | CA1613536446 | NHLRC1 | c.426G= (p.Val142=) | |
6 | g.18122181C>G | CA448958385 | NHLRC1 | c.426G>C (p.Val142=) | |
6 | g.18122181C>T | CA448958386 | NHLRC1 | c.426G>A (p.Val142=) | gnomAD v4 |
6 | g.18122181_18122184delinsCACG | CA1613536447 | NHLRC1 | c.423_426delinsCGTG (p.Val141=) | |
6 | g.18122182A>C | CA362828076 | NHLRC1 | c.425T>G (p.Val142Gly) | |
6 | g.18122182A>G | CA362828077 | NHLRC1 | c.425T>C (p.Val142Ala) | |
6 | g.18122182A>T | CA362828078 | NHLRC1 | c.425T>A (p.Val142Glu) | |
6 | g.18122184_18122186del | CA1613536448 | NHLRC1 | c.423_425del (p.Val142del) | ClinVar dbSNP |
6 | g.18122183C>A | CA362828080 | NHLRC1 | c.424G>T (p.Val142Leu) | |
6 | g.18122183C= | CA1613536449 | NHLRC1 | c.424G= (p.Val142=) | |
6 | g.18122183C>G | CA3649998 | NHLRC1 | c.424G>C (p.Val142Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18122183C>T | CA362828082 | NHLRC1 | c.424G>A (p.Val142Met) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.18122184G>A | CA448958390 | NHLRC1 | c.423C>T (p.Val141=) | gnomAD v4 COSMIC |
6 | g.18122184G>C | CA3649999 | NHLRC1 | c.423C>G (p.Val141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18122184G= | CA1613536450 | NHLRC1 | c.423C= (p.Val141=) | |
6 | g.18122184G>T | CA448958391 | NHLRC1 | c.423C>A (p.Val141=) | |
6 | g.18122185A= | CA1613536451 | NHLRC1 | c.422T= (p.Val141=) | |
6 | g.18122185A>C | CA362828086 | NHLRC1 | c.422T>G (p.Val141Gly) | |
6 | g.18122185A>G | CA316033 | NHLRC1 | c.422T>C (p.Val141Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18122185A>T | CA362828088 | NHLRC1 | c.422T>A (p.Val141Asp) | |
6 | g.18122186C>A | CA362828089 | NHLRC1 | c.421G>T (p.Val141Phe) | |
6 | g.18122186C>G | CA362828091 | NHLRC1 | c.421G>C (p.Val141Leu) | |
6 | g.18122186C>T | CA362828093 | NHLRC1 | c.421G>A (p.Val141Ile) | |
6 | g.18122187A>C | CA448958394 | NHLRC1 | c.420T>G (p.Arg140=) | gnomAD v4 |
6 | g.18122187A>G | CA448958395 | NHLRC1 | c.420T>C (p.Arg140=) |