| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.67940370_67940371delinsTC | CA2229563330 | LCAT | c.856_857delinsGA (p.Asp286=) c.156-297_156-296delinsGA c.640_641delinsGA (p.Asp214=) c.594_595delinsGA (n.594_595delinsGA) | |
| 16 | g.67940371C>A | CA396376209 | LCAT | c.856G>T (p.Asp286Tyr) c.156-297G>T c.640G>T (p.Asp214Tyr) c.594G>T (n.594G>T) | |
| 16 | g.67940371C>G | CA396376208 | LCAT | c.856G>C (p.Asp286His) c.156-297G>C c.640G>C (p.Asp214His) c.594G>C (n.594G>C) | |
| 16 | g.67940371C>T | CA396376207 | LCAT | c.856G>A (p.Asp286Asn) c.156-297G>A c.640G>A (p.Asp214Asn) c.594G>A (n.594G>A) | gnomAD v4 |
| 16 | g.67940372del | CA8120944 | LCAT | c.856del (p.Asp286ThrfsTer?) c.156-297del c.640del (p.Asp214ThrfsTer?) c.594del (n.594del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.67940372C>A | CA396376210 | LCAT | c.855G>T (p.Glu285Asp) c.156-298G>T c.639G>T (p.Glu213Asp) c.593G>T (n.593G>T) | |
| 16 | g.67940372C>G | CA396376211 | LCAT | c.855G>C (p.Glu285Asp) c.156-298G>C c.639G>C (p.Glu213Asp) c.593G>C (n.593G>C) | |
| 16 | g.67940372C>T | CA496384005 | LCAT | c.855G>A (p.Glu285=) c.156-298G>A c.639G>A (p.Glu213=) c.593G>A (n.593G>A) | |
| 16 | g.67940373T>A | CA396376212 | LCAT | c.854A>T (p.Glu285Val) c.156-299A>T c.638A>T (p.Glu213Val) c.592A>T (n.592A>T) | |
| 16 | g.67940373T>C | CA396376213 | LCAT | c.854A>G (p.Glu285Gly) c.156-299A>G c.638A>G (p.Glu213Gly) c.592A>G (n.592A>G) | |
| 16 | g.67940373T>G | CA396376214 | LCAT | c.854A>C (p.Glu285Ala) c.156-299A>C c.638A>C (p.Glu213Ala) c.592A>C (n.592A>C) | |
| 16 | g.67940374C>A | CA396376217 | LCAT | c.853G>T (p.Glu285Ter) c.156-300G>T c.637G>T (p.Glu213Ter) c.591G>T (n.591G>T) | |
| 16 | g.67940374C= | CA2229563331 | LCAT | c.853G= (p.Glu285=) c.156-300G= c.637G= (p.Glu213=) c.591G= (n.591G=) | |
| 16 | g.67940374C>G | CA396376215 | LCAT | c.853G>C (p.Glu285Gln) c.156-300G>C c.637G>C (p.Glu213Gln) c.591G>C (n.591G>C) | |
| 16 | g.67940374C>T | CA396376216 | LCAT | c.853G>A (p.Glu285Lys) c.156-300G>A c.637G>A (p.Glu213Lys) c.591G>A (n.591G>A) | dbSNP |
| 16 | g.67940375A= | CA2229563332 | LCAT | c.852T= (p.Pro284=) c.156-301T= c.636T= (p.Pro212=) c.590T= (n.590T=) | |
| 16 | g.67940375A>C | CA496384008 | LCAT | c.852T>G (p.Pro284=) c.156-301T>G c.636T>G (p.Pro212=) c.590T>G (n.590T>G) | |
| 16 | g.67940375A>G | CA8120945 | LCAT | c.852T>C (p.Pro284=) c.156-301T>C c.636T>C (p.Pro212=) c.590T>C (n.590T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.67940375A>T | CA496384009 | LCAT | c.852T>A (p.Pro284=) c.156-301T>A c.636T>A (p.Pro212=) c.590T>A (n.590T>A) | |
| 16 | g.67940376G>A | CA396376218 | LCAT | c.851C>T (p.Pro284Leu) c.156-302C>T c.635C>T (p.Pro212Leu) c.589C>T (n.589C>T) | |
| 16 | g.67940376G>C | CA396376219 | LCAT | c.851C>G (p.Pro284Arg) c.156-302C>G c.635C>G (p.Pro212Arg) c.589C>G (n.589C>G) | |
| 16 | g.67940376G>T | CA396376220 | LCAT | c.851C>A (p.Pro284His) c.156-302C>A c.635C>A (p.Pro212His) c.589C>A (n.589C>A) | |
| 16 | g.67940377G>A | CA396376221 | LCAT | c.850C>T (p.Pro284Ser) c.156-303C>T c.634C>T (p.Pro212Ser) c.588C>T (n.588C>T) | |
| 16 | g.67940377G>C | CA396376222 | LCAT | c.850C>G (p.Pro284Ala) c.156-303C>G c.634C>G (p.Pro212Ala) c.588C>G (n.588C>G) | |
| 16 | g.67940377G>T | CA396376223 | LCAT | c.850C>A (p.Pro284Thr) c.156-303C>A c.634C>A (p.Pro212Thr) c.588C>A (n.588C>A) | |
| 16 | g.67940378C>A | CA396376224 | LCAT | c.849G>T (p.Trp283Cys) c.156-304G>T c.633G>T (p.Trp211Cys) c.587G>T (n.587G>T) | |
| 16 | g.67940378C>G | CA396376225 | LCAT | c.849G>C (p.Trp283Cys) c.156-304G>C c.633G>C (p.Trp211Cys) c.587G>C (n.587G>C) | |
| 16 | g.67940378C>T | CA396376226 | LCAT | c.849G>A (p.Trp283Ter) c.156-304G>A c.633G>A (p.Trp211Ter) c.587G>A (n.587G>A) | ClinVar |
| 16 | g.67940379C>A | CA396376227 | LCAT | c.848G>T (p.Trp283Leu) c.156-305G>T c.632G>T (p.Trp211Leu) c.586G>T (n.586G>T) | gnomAD v4 |
| 16 | g.67940379C>G | CA396376228 | LCAT | c.848G>C (p.Trp283Ser) c.156-305G>C c.632G>C (p.Trp211Ser) c.586G>C (n.586G>C) | |
| 16 | g.67940379C>T | CA396376229 | LCAT | c.848G>A (p.Trp283Ter) c.156-305G>A c.632G>A (p.Trp211Ter) c.586G>A (n.586G>A) | |
| 16 | g.67940380del | CA2576033452 | LCAT | c.847del (p.Trp283GlyfsTer?) c.156-306del c.631del (p.Trp211GlyfsTer?) c.585del (n.585del) | |
| 16 | g.67940380A>C | CA396376232 | LCAT | c.847T>G (p.Trp283Gly) c.156-306T>G c.631T>G (p.Trp211Gly) c.585T>G (n.585T>G) | |
| 16 | g.67940380A>G | CA396376230 | LCAT | c.847T>C (p.Trp283Arg) c.156-306T>C c.631T>C (p.Trp211Arg) c.585T>C (n.585T>C) | |
| 16 | g.67940380A>T | CA396376231 | LCAT | c.847T>A (p.Trp283Arg) c.156-306T>A c.631T>A (p.Trp211Arg) c.585T>A (n.585T>A) | |
| 16 | g.67940381C>A | CA496384012 | LCAT | c.846G>T (p.Ala282=) c.156-307G>T c.630G>T (p.Ala210=) c.584G>T (n.584G>T) | |
| 16 | g.67940381C= | CA2229563333 | LCAT | c.846G= (p.Ala282=) c.156-307G= c.630G= (p.Ala210=) c.584G= (n.584G=) | |
| 16 | g.67940381C>G | CA496384013 | LCAT | c.846G>C (p.Ala282=) c.156-307G>C c.630G>C (p.Ala210=) c.584G>C (n.584G>C) | |
| 16 | g.67940381C>T | CA8120946 | LCAT | c.846G>A (p.Ala282=) c.156-307G>A c.630G>A (p.Ala210=) c.584G>A (n.584G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.67940382G>A | CA396376233 | LCAT | c.845C>T (p.Ala282Val) c.156-308C>T c.629C>T (p.Ala210Val) c.583C>T (n.583C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.67940382G>C | CA396376234 | LCAT | c.845C>G (p.Ala282Gly) c.156-308C>G c.629C>G (p.Ala210Gly) c.583C>G (n.583C>G) | |
| 16 | g.67940382G= | CA2229563334 | LCAT | c.845C= (p.Ala282=) c.156-308C= c.629C= (p.Ala210=) c.583C= (n.583C=) | |
| 16 | g.67940382G>T | CA396376235 | LCAT | c.845C>A (p.Ala282Glu) c.156-308C>A c.629C>A (p.Ala210Glu) c.583C>A (n.583C>A) | |
| 16 | g.67940383C>A | CA396376236 | LCAT | c.844G>T (p.Ala282Ser) c.156-309G>T c.628G>T (p.Ala210Ser) c.582G>T (n.582G>T) | |
| 16 | g.67940383C>G | CA396376237 | LCAT | c.844G>C (p.Ala282Pro) c.156-309G>C c.628G>C (p.Ala210Pro) c.582G>C (n.582G>C) | |
| 16 | g.67940383C>T | CA396376238 | LCAT | c.844G>A (p.Ala282Thr) c.156-309G>A c.628G>A (p.Ala210Thr) c.582G>A (n.582G>A) | |
| 16 | g.67940384C>A | CA396376239 | LCAT | c.843G>T (p.Met281Ile) c.156-310G>T c.627G>T (p.Met209Ile) c.581G>T (n.581G>T) | |
| 16 | g.67940384C>G | CA396376240 | LCAT | c.843G>C (p.Met281Ile) c.156-310G>C c.627G>C (p.Met209Ile) c.581G>C (n.581G>C) | |
| 16 | g.67940384C>T | CA396376241 | LCAT | c.843G>A (p.Met281Ile) c.156-310G>A c.627G>A (p.Met209Ile) c.581G>A (n.581G>A) | gnomAD v4 |
| 16 | g.67940385A>C | CA396376242 | LCAT | c.842T>G (p.Met281Arg) c.156-311T>G c.626T>G (p.Met209Arg) c.580T>G (n.580T>G) |