Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67940471G>A | CA496384070 | LCAT | c.756C>T (p.Asn252=) c.156-397C>T c.540C>T (p.Asn180=) c.494C>T (n.494C>T) | |
16 | g.67940471G>C | CA396376430 | LCAT | c.756C>G (p.Asn252Lys) c.156-397C>G c.540C>G (p.Asn180Lys) c.494C>G (n.494C>G) | |
16 | g.67940471G= | CA2229563365 | LCAT | c.756C= (p.Asn252=) c.156-397C= c.540C= (p.Asn180=) c.494C= (n.494C=) | |
16 | g.67940471G>T | CA116417 | LCAT | c.756C>A (p.Asn252Lys) c.156-397C>A c.540C>A (p.Asn180Lys) c.494C>A (n.494C>A) | ClinVar dbSNP gnomAD v4 |
16 | g.67940472T>A | CA396376431 | LCAT | c.755A>T (p.Asn252Ile) c.156-398A>T c.539A>T (p.Asn180Ile) c.493A>T (n.493A>T) | |
16 | g.67940472T>C | CA396376433 | LCAT | c.755A>G (p.Asn252Ser) c.156-398A>G c.539A>G (p.Asn180Ser) c.493A>G (n.493A>G) | |
16 | g.67940472T>G | CA396376432 | LCAT | c.755A>C (p.Asn252Thr) c.156-398A>C c.539A>C (p.Asn180Thr) c.493A>C (n.493A>C) | |
16 | g.67940473T>A | CA396376434 | LCAT | c.754A>T (p.Asn252Tyr) c.156-399A>T c.538A>T (p.Asn180Tyr) c.492A>T (n.492A>T) | |
16 | g.67940473T>C | CA396376436 | LCAT | c.754A>G (p.Asn252Asp) c.156-399A>G c.538A>G (p.Asn180Asp) c.492A>G (n.492A>G) | |
16 | g.67940473T>G | CA396376435 | LCAT | c.754A>C (p.Asn252His) c.156-399A>C c.538A>C (p.Asn180His) c.492A>C (n.492A>C) | |
16 | g.67940474G>A | CA8120962 | LCAT | c.753C>T (p.Asp251=) c.156-400C>T c.537C>T (p.Asp179=) c.491C>T (n.491C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940474G>C | CA396376437 | LCAT | c.753C>G (p.Asp251Glu) c.156-400C>G c.537C>G (p.Asp179Glu) c.491C>G (n.491C>G) | |
16 | g.67940474G= | CA2229563366 | LCAT | c.753C= (p.Asp251=) c.156-400C= c.537C= (p.Asp179=) c.491C= (n.491C=) | |
16 | g.67940474G>T | CA396376438 | LCAT | c.753C>A (p.Asp251Glu) c.156-400C>A c.537C>A (p.Asp179Glu) c.491C>A (n.491C>A) | |
16 | g.67940475T>A | CA396376439 | LCAT | c.752A>T (p.Asp251Val) c.156-401A>T c.536A>T (p.Asp179Val) c.490A>T (n.490A>T) | |
16 | g.67940475T>C | CA396376440 | LCAT | c.752A>G (p.Asp251Gly) c.156-401A>G c.536A>G (p.Asp179Gly) c.490A>G (n.490A>G) | gnomAD v4 |
16 | g.67940475T>G | CA396376441 | LCAT | c.752A>C (p.Asp251Ala) c.156-401A>C c.536A>C (p.Asp179Ala) c.490A>C (n.490A>C) | |
16 | g.67940476C>A | CA396376442 | LCAT | c.751G>T (p.Asp251Tyr) c.156-402G>T c.535G>T (p.Asp179Tyr) c.489G>T (n.489G>T) | |
16 | g.67940476C= | CA2229563367 | LCAT | c.751G= (p.Asp251=) c.156-402G= c.535G= (p.Asp179=) c.489G= (n.489G=) | |
16 | g.67940476C>G | CA396376443 | LCAT | c.751G>C (p.Asp251His) c.156-402G>C c.535G>C (p.Asp179His) c.489G>C (n.489G>C) | |
16 | g.67940476C>T | CA396376444 | LCAT | c.751G>A (p.Asp251Asn) c.156-402G>A c.535G>A (p.Asp179Asn) c.489G>A (n.489G>A) | dbSNP |
16 | g.67940477A>C | CA496384071 | LCAT | c.750T>G (p.Gly250=) c.156-403T>G c.534T>G (p.Gly178=) c.488T>G (n.488T>G) | |
16 | g.67940477A>G | CA496384072 | LCAT | c.750T>C (p.Gly250=) c.156-403T>C c.534T>C (p.Gly178=) c.488T>C (n.488T>C) | |
16 | g.67940477A>T | CA496384073 | LCAT | c.750T>A (p.Gly250=) c.156-403T>A c.534T>A (p.Gly178=) c.488T>A (n.488T>A) | |
16 | g.67940478C>A | CA396376445 | LCAT | c.749G>T (p.Gly250Val) c.156-404G>T c.533G>T (p.Gly178Val) c.487G>T (n.487G>T) | |
16 | g.67940478C>G | CA396376446 | LCAT | c.749G>C (p.Gly250Ala) c.156-404G>C c.533G>C (p.Gly178Ala) c.487G>C (n.487G>C) | |
16 | g.67940478C>T | CA396376447 | LCAT | c.749G>A (p.Gly250Asp) c.156-404G>A c.533G>A (p.Gly178Asp) c.487G>A (n.487G>A) | |
16 | g.67940479C>A | CA396376450 | LCAT | c.749-1G>T (n.749-1G>T) c.156-405G>T c.533-1G>T (n.533-1G>T) c.487-1G>T (n.487-1G>T) | |
16 | g.67940479C>G | CA396376448 | LCAT | c.749-1G>C (n.749-1G>C) c.156-405G>C c.533-1G>C (n.533-1G>C) c.487-1G>C (n.487-1G>C) | |
16 | g.67940479C>T | CA396376449 | LCAT | c.749-1G>A (n.749-1G>A) c.156-405G>A c.533-1G>A (n.533-1G>A) c.487-1G>A (n.487-1G>A) | |
16 | g.67940480T>A | CA396376451 | LCAT | c.749-2A>T (n.749-2A>T) c.156-406A>T c.533-2A>T (n.533-2A>T) c.487-2A>T (n.487-2A>T) | |
16 | g.67940480T>C | CA396376452 | LCAT | c.749-2A>G (n.749-2A>G) c.156-406A>G c.533-2A>G (n.533-2A>G) c.487-2A>G (n.487-2A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940480T>G | CA396376453 | LCAT | c.749-2A>C (n.749-2A>C) c.156-406A>C c.533-2A>C (n.533-2A>C) c.487-2A>C (n.487-2A>C) | |
16 | g.67940484G= | CA2229563368 | LCAT | c.749-6C= (n.749-6C=) c.156-410C= c.533-6C= (n.533-6C=) c.487-6C= (n.487-6C=) | |
16 | g.67940484G>T | CA623122293 | LCAT | c.749-6C>A (n.749-6C>A) c.156-410C>A c.533-6C>A (n.533-6C>A) c.487-6C>A (n.487-6C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940485A= | CA2229563369 | LCAT | c.749-7T= (n.749-7T=) c.156-411T= c.533-7T= (n.533-7T=) c.487-7T= (n.487-7T=) | |
16 | g.67940485A>G | CA2229563370 | LCAT | c.749-7T>C (n.749-7T>C) c.156-411T>C c.533-7T>C (n.533-7T>C) c.487-7T>C (n.487-7T>C) | dbSNP gnomAD v4 |
16 | g.67940486T>A | CA2576033453 | LCAT | c.749-8A>T (n.749-8A>T) c.156-412A>T c.533-8A>T (n.533-8A>T) c.487-8A>T (n.487-8A>T) | gnomAD v4 |
16 | g.67940486T>C | CA2505093749 | LCAT | c.749-8A>G (n.749-8A>G) c.156-412A>G c.533-8A>G (n.533-8A>G) c.487-8A>G (n.487-8A>G) | gnomAD v4 |
16 | g.67940488del | CA2633851075 | LCAT | c.749-10del (n.749-10del) c.156-414del c.533-10del (n.533-10del) c.487-10del (n.487-10del) | gnomAD v4 |
16 | g.67940488T>C | CA283161104 | LCAT | c.749-10A>G (n.749-10A>G) c.156-414A>G c.533-10A>G (n.533-10A>G) c.487-10A>G (n.487-10A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940488T= | CA2229563371 | LCAT | c.749-10A= (n.749-10A=) c.156-414A= c.533-10A= (n.533-10A=) c.487-10A= (n.487-10A=) | |
16 | g.67940489G>A | CA2510296598 | LCAT | c.749-11C>T (n.749-11C>T) c.156-415C>T c.533-11C>T (n.533-11C>T) c.487-11C>T (n.487-11C>T) | |
16 | g.67940490G>A | CA8120963 | LCAT | c.749-12C>T (n.749-12C>T) c.156-416C>T c.533-12C>T (n.533-12C>T) c.487-12C>T (n.487-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940490G>C | CA2633851080 | LCAT | c.749-12C>G (n.749-12C>G) c.156-416C>G c.533-12C>G (n.533-12C>G) c.487-12C>G (n.487-12C>G) | gnomAD v4 |
16 | g.67940490G= | CA2229563372 | LCAT | c.749-12C= (n.749-12C=) c.156-416C= c.533-12C= (n.533-12C=) c.487-12C= (n.487-12C=) | |
16 | g.67940491A= | CA2229563373 | LCAT | c.749-13T= (n.749-13T=) c.156-417T= c.533-13T= (n.533-13T=) c.487-13T= (n.487-13T=) | |
16 | g.67940491A>C | CA656474646 | LCAT | c.749-13T>G (n.749-13T>G) c.156-417T>G c.533-13T>G (n.533-13T>G) c.487-13T>G (n.487-13T>G) | COSMIC |
16 | g.67940491A>T | CA723097944 | LCAT | c.749-13T>A (n.749-13T>A) c.156-417T>A c.533-13T>A (n.533-13T>A) c.487-13T>A (n.487-13T>A) | dbSNP gnomAD v4 |
16 | g.67940492G>A | CA8120964 | LCAT | c.749-14C>T (n.749-14C>T) c.156-418C>T c.533-14C>T (n.533-14C>T) c.487-14C>T (n.487-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |