Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67940197_67940246delinsGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGT | CA2229563255 | LCAT | c.981_1030delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC (p.Gly327=) c.156-172_156-123delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC c.719_768delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC (n.719_768delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC) | |
16 | g.67940199_67940247del | CA723097333 | LCAT | c.981_1029del (p.Leu328ProfsTer?) c.156-172_156-124del c.719_767del (n.719_767del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940210_67940233del | CA2633850898 | LCAT | c.996_1019del (p.Val333_Gly340del) c.156-157_156-134del c.734_757del (n.734_757del) | gnomAD v4 |
16 | g.67940220T>A | CA396375876 | LCAT | c.1007A>T (p.Tyr336Phe) c.156-146A>T c.745A>T (n.745A>T) | |
16 | g.67940220T>C | CA396375877 | LCAT | c.1007A>G (p.Tyr336Cys) c.156-146A>G c.745A>G (n.745A>G) | COSMIC |
16 | g.67940220T>G | CA396375878 | LCAT | c.1007A>C (p.Tyr336Ser) c.156-146A>C c.745A>C (n.745A>C) | |
16 | g.67940222_67940223del | CA2633850912 | LCAT | c.1006_1007del (p.Tyr336LeufsTer30) c.156-147_156-146del c.744_745del (n.744_745del) | gnomAD v4 |
16 | g.67940221A>C | CA396375879 | LCAT | c.1006T>G (p.Tyr336Asp) c.156-147T>G c.744T>G (n.744T>G) | |
16 | g.67940221A>G | CA396375880 | LCAT | c.1006T>C (p.Tyr336His) c.156-147T>C c.744T>C (n.744T>C) | |
16 | g.67940221A>T | CA396375881 | LCAT | c.1006T>A (p.Tyr336Asn) c.156-147T>A c.744T>A (n.744T>A) | |
16 | g.67940222T>A | CA496384074 | LCAT | c.1005A>T (p.Val335=) c.156-148A>T c.743A>T (n.743A>T) | |
16 | g.67940222T>C | CA496384075 | LCAT | c.1005A>G (p.Val335=) c.156-148A>G c.743A>G (n.743A>G) | |
16 | g.67940222T>G | CA8120919 | LCAT | c.1005A>C (p.Val335=) c.156-148A>C c.743A>C (n.743A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940222T= | CA2229563269 | LCAT | c.1005A= (p.Val335=) c.156-148A= c.743A= (n.743A=) | |
16 | g.67940223A>C | CA396375884 | LCAT | c.1004T>G (p.Val335Gly) c.156-149T>G c.742T>G (n.742T>G) | |
16 | g.67940223A>G | CA396375882 | LCAT | c.1004T>C (p.Val335Ala) c.156-149T>C c.742T>C (n.742T>C) | |
16 | g.67940223A>T | CA396375883 | LCAT | c.1004T>A (p.Val335Glu) c.156-149T>A c.742T>A (n.742T>A) | |
16 | g.67940224C>A | CA396375885 | LCAT | c.1003G>T (p.Val335Leu) c.156-150G>T c.741G>T (n.741G>T) | |
16 | g.67940224C>G | CA396375886 | LCAT | c.1003G>C (p.Val335Leu) c.156-150G>C c.741G>C (n.741G>C) | |
16 | g.67940224C>T | CA396375887 | LCAT | c.1003G>A (p.Val335Ile) c.156-150G>A c.741G>A (n.741G>A) | gnomAD v4 |
16 | g.67940225T>A | CA396375888 | LCAT | c.1002A>T (p.Glu334Asp) c.156-151A>T c.740A>T (n.740A>T) | |
16 | g.67940225T>C | CA496384076 | LCAT | c.1002A>G (p.Glu334=) c.156-151A>G c.740A>G (n.740A>G) | dbSNP |
16 | g.67940225T>G | CA396375889 | LCAT | c.1002A>C (p.Glu334Asp) c.156-151A>C c.740A>C (n.740A>C) | |
16 | g.67940225T= | CA2229563270 | LCAT | c.1002A= (p.Glu334=) c.156-151A= c.740A= (n.740A=) | |
16 | g.67940226T>A | CA396375890 | LCAT | c.1001A>T (p.Glu334Val) c.156-152A>T c.739A>T (n.739A>T) | |
16 | g.67940226T>C | CA396375892 | LCAT | c.1001A>G (p.Glu334Gly) c.156-152A>G c.739A>G (n.739A>G) | |
16 | g.67940226T>G | CA396375891 | LCAT | c.1001A>C (p.Glu334Ala) c.156-152A>C c.739A>C (n.739A>C) | |
16 | g.67940227C>A | CA396375893 | LCAT | c.1000G>T (p.Glu334Ter) c.156-153G>T c.738G>T (n.738G>T) | |
16 | g.67940227C>G | CA396375894 | LCAT | c.1000G>C (p.Glu334Gln) c.156-153G>C c.738G>C (n.738G>C) | |
16 | g.67940227C>T | CA396375895 | LCAT | c.1000G>A (p.Glu334Lys) c.156-153G>A c.738G>A (n.738G>A) | |
16 | g.67940228C>A | CA496384077 | LCAT | c.999G>T (p.Val333=) c.156-154G>T c.737G>T (n.737G>T) | |
16 | g.67940228C>G | CA496384079 | LCAT | c.999G>C (p.Val333=) c.156-154G>C c.737G>C (n.737G>C) | |
16 | g.67940228C>T | CA496384078 | LCAT | c.999G>A (p.Val333=) c.156-154G>A c.737G>A (n.737G>A) | |
16 | g.67940229A>C | CA396375896 | LCAT | c.998T>G (p.Val333Gly) c.156-155T>G c.736T>G (n.736T>G) | |
16 | g.67940229A>G | CA396375897 | LCAT | c.998T>C (p.Val333Ala) c.156-155T>C c.736T>C (n.736T>C) | |
16 | g.67940229A>T | CA396375898 | LCAT | c.998T>A (p.Val333Glu) c.156-155T>A c.736T>A (n.736T>A) | |
16 | g.67940230C>A | CA396375899 | LCAT | c.997G>T (p.Val333Leu) c.156-156G>T c.735G>T (n.735G>T) | |
16 | g.67940230C= | CA2229563271 | LCAT | c.997G= (p.Val333=) c.156-156G= c.735G= (n.735G=) | |
16 | g.67940230C>G | CA396375900 | LCAT | c.997G>C (p.Val333Leu) c.156-156G>C c.735G>C (n.735G>C) | |
16 | g.67940230C>T | CA8120920 | LCAT | c.997G>A (p.Val333Met) c.156-156G>A c.735G>A (n.735G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940231A>C | CA496384080 | LCAT | c.996T>G (p.Gly332=) c.156-157T>G c.734T>G (n.734T>G) | |
16 | g.67940231A>G | CA496384082 | LCAT | c.996T>C (p.Gly332=) c.156-157T>C c.734T>C (n.734T>C) | |
16 | g.67940231A>T | CA496384081 | LCAT | c.996T>A (p.Gly332=) c.156-157T>A c.734T>A (n.734T>A) | |
16 | g.67940232C>A | CA396375901 | LCAT | c.995G>T (p.Gly332Val) c.156-158G>T c.733G>T (n.733G>T) | |
16 | g.67940232C>G | CA396375902 | LCAT | c.995G>C (p.Gly332Ala) c.156-158G>C c.733G>C (n.733G>C) | |
16 | g.67940232C>T | CA396375903 | LCAT | c.995G>A (p.Gly332Asp) c.156-158G>A c.733G>A (n.733G>A) | |
16 | g.67940233C>A | CA396375905 | LCAT | c.994G>T (p.Gly332Cys) c.156-159G>T c.732G>T (n.732G>T) | |
16 | g.67940233C= | CA2229563272 | LCAT | c.994G= (p.Gly332=) c.156-159G= c.732G= (n.732G=) | |
16 | g.67940233C>G | CA396375904 | LCAT | c.994G>C (p.Gly332Arg) c.156-159G>C c.732G>C (n.732G>C) | gnomAD v4 |
16 | g.67940233C>T | CA283160801 | LCAT | c.994G>A (p.Gly332Ser) c.156-159G>A c.732G>A (n.732G>A) | dbSNP |
16 | g.67940234A>C | CA496384083 | LCAT | c.993T>G (p.Pro331=) c.156-160T>G c.731T>G (n.731T>G) | gnomAD v4 |
16 | g.67940234A>G | CA496384084 | LCAT | c.993T>C (p.Pro331=) c.156-160T>C c.731T>C (n.731T>C) | gnomAD v4 |
16 | g.67940234A>T | CA496384085 | LCAT | c.993T>A (p.Pro331=) c.156-160T>A c.731T>A (n.731T>A) | |
16 | g.67940235G>A | CA396375906 | LCAT | c.992C>T (p.Pro331Leu) c.156-161C>T c.730C>T (n.730C>T) | dbSNP gnomAD v4 |
16 | g.67940235G>C | CA396375908 | LCAT | c.992C>G (p.Pro331Arg) c.156-161C>G c.730C>G (n.730C>G) | |
16 | g.67940235G= | CA2229563273 | LCAT | c.992C= (p.Pro331=) c.156-161C= c.730C= (n.730C=) | |
16 | g.67940235G>T | CA396375907 | LCAT | c.992C>A (p.Pro331His) c.156-161C>A c.730C>A (n.730C>A) | |
16 | g.67940236G>A | CA396375909 | LCAT | c.991C>T (p.Pro331Ser) c.156-162C>T c.729C>T (n.729C>T) | |
16 | g.67940236G>C | CA396375910 | LCAT | c.991C>G (p.Pro331Ala) c.156-162C>G c.729C>G (n.729C>G) | |
16 | g.67940236G>T | CA396375911 | LCAT | c.991C>A (p.Pro331Thr) c.156-162C>A c.729C>A (n.729C>A) | |
16 | g.67940236_67940247dup | CA723097401 | LCAT | c.980_991dup (p.Ala330_Pro331insArgLeuProAla) c.156-173_156-162dup c.718_729dup (n.718_729dup) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940237T>A | CA496384086 | LCAT | c.990A>T (p.Ala330=) c.156-163A>T c.728A>T (n.728A>T) | |
16 | g.67940237T>C | CA496384088 | LCAT | c.990A>G (p.Ala330=) c.156-163A>G c.728A>G (n.728A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940237T>G | CA496384087 | LCAT | c.990A>C (p.Ala330=) c.156-163A>C c.728A>C (n.728A>C) | |
16 | g.67940237T= | CA2229563274 | LCAT | c.990A= (p.Ala330=) c.156-163A= c.728A= (n.728A=) | |
16 | g.67940238G>A | CA396375912 | LCAT | c.989C>T (p.Ala330Val) c.156-164C>T c.727C>T (n.727C>T) | COSMIC |
16 | g.67940238G>C | CA396375913 | LCAT | c.989C>G (p.Ala330Gly) c.156-164C>G c.727C>G (n.727C>G) | |
16 | g.67940238G>T | CA396375914 | LCAT | c.989C>A (p.Ala330Glu) c.156-164C>A c.727C>A (n.727C>A) | gnomAD v4 |
16 | g.67940239C>A | CA396375915 | LCAT | c.988G>T (p.Ala330Ser) c.156-165G>T c.726G>T (n.726G>T) | |
16 | g.67940239C= | CA2229563275 | LCAT | c.988G= (p.Ala330=) c.156-165G= c.726G= (n.726G=) | |
16 | g.67940239C>G | CA396375916 | LCAT | c.988G>C (p.Ala330Pro) c.156-165G>C c.726G>C (n.726G>C) | gnomAD v4 |
16 | g.67940239C>T | CA8120921 | LCAT | c.988G>A (p.Ala330Thr) c.156-165G>A c.726G>A (n.726G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940240T>A | CA496384089 | LCAT | c.987A>T (p.Pro329=) c.156-166A>T c.725A>T (n.725A>T) | |
16 | g.67940240T>C | CA496384090 | LCAT | c.987A>G (p.Pro329=) c.156-166A>G c.725A>G (n.725A>G) | |
16 | g.67940240T>G | CA496384091 | LCAT | c.987A>C (p.Pro329=) c.156-166A>C c.725A>C (n.725A>C) | |
16 | g.67940241G>A | CA396375917 | LCAT | c.986C>T (p.Pro329Leu) c.156-167C>T c.724C>T (n.724C>T) | dbSNP gnomAD v4 |
16 | g.67940241G>C | CA396375918 | LCAT | c.986C>G (p.Pro329Arg) c.156-167C>G c.724C>G (n.724C>G) | |
16 | g.67940241G= | CA2229563276 | LCAT | c.986C= (p.Pro329=) c.156-167C= c.724C= (n.724C=) | |
16 | g.67940241G>T | CA396375919 | LCAT | c.986C>A (p.Pro329Gln) c.156-167C>A c.724C>A (n.724C>A) | |
16 | g.67940242G>A | CA396375920 | LCAT | c.985C>T (p.Pro329Ser) c.156-168C>T c.723C>T (n.723C>T) | |
16 | g.67940242G>C | CA396375922 | LCAT | c.985C>G (p.Pro329Ala) c.156-168C>G c.723C>G (n.723C>G) | |
16 | g.67940242G>T | CA396375921 | LCAT | c.985C>A (p.Pro329Thr) c.156-168C>A c.723C>A (n.723C>A) | |
16 | g.67940243G>A | CA283160815 | LCAT | c.984C>T (p.Leu328=) c.156-169C>T c.722C>T (n.722C>T) | dbSNP |
16 | g.67940243G>C | CA496384092 | LCAT | c.984C>G (p.Leu328=) c.156-169C>G c.722C>G (n.722C>G) | dbSNP |
16 | g.67940243G= | CA2229563277 | LCAT | c.984C= (p.Leu328=) c.156-169C= c.722C= (n.722C=) | |
16 | g.67940243G>T | CA496384093 | LCAT | c.984C>A (p.Leu328=) c.156-169C>A c.722C>A (n.722C>A) | |
16 | g.67940244A>C | CA396375923 | LCAT | c.983T>G (p.Leu328Arg) c.156-170T>G c.721T>G (n.721T>G) | |
16 | g.67940244A>G | CA396375924 | LCAT | c.983T>C (p.Leu328Pro) c.156-170T>C c.721T>C (n.721T>C) | |
16 | g.67940244A>T | CA396375925 | LCAT | c.983T>A (p.Leu328His) c.156-170T>A c.721T>A (n.721T>A) | |
16 | g.67940245G>A | CA396375926 | LCAT | c.982C>T (p.Leu328Phe) c.156-171C>T c.720C>T (n.720C>T) | dbSNP gnomAD v4 |
16 | g.67940245G>C | CA396375927 | LCAT | c.982C>G (p.Leu328Val) c.156-171C>G c.720C>G (n.720C>G) | |
16 | g.67940245G= | CA2229563278 | LCAT | c.982C= (p.Leu328=) c.156-171C= c.720C= (n.720C=) | |
16 | g.67940245G>T | CA396375928 | LCAT | c.982C>A (p.Leu328Ile) c.156-171C>A c.720C>A (n.720C>A) | |
16 | g.67940246T>A | CA496384095 | LCAT | c.981A>T (p.Gly327=) c.156-172A>T c.765A>T (p.Gly255=) c.719A>T (n.719A>T) | |
16 | g.67940246T>C | CA496384094 | LCAT | c.981A>G (p.Gly327=) c.156-172A>G c.765A>G (p.Gly255=) c.719A>G (n.719A>G) | |
16 | g.67940246T>G | CA8120922 | LCAT | c.981A>C (p.Gly327=) c.156-172A>C c.765A>C (p.Gly255=) c.719A>C (n.719A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940246T= | CA2229563279 | LCAT | c.981A= (p.Gly327=) c.156-172A= c.765A= (p.Gly255=) c.719A= (n.719A=) | |
16 | g.67940247C>A | CA8120923 | LCAT | c.980G>T (p.Gly327Val) c.156-173G>T c.764G>T (p.Gly255Val) c.718G>T (n.718G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940247C= | CA2229563280 | LCAT | c.980G= (p.Gly327=) c.156-173G= c.764G= (p.Gly255=) c.718G= (n.718G=) | |
16 | g.67940247C>G | CA396375929 | LCAT | c.980G>C (p.Gly327Ala) c.156-173G>C c.764G>C (p.Gly255Ala) c.718G>C (n.718G>C) | |
16 | g.67940247C>T | CA396375930 | LCAT | c.980G>A (p.Gly327Glu) c.156-173G>A c.764G>A (p.Gly255Glu) c.718G>A (n.718G>A) | |
16 | g.67940248C>A | CA396375933 | LCAT | c.979G>T (p.Gly327Ter) c.156-174G>T c.763G>T (p.Gly255Ter) c.717G>T (n.717G>T) | |
16 | g.67940248C= | CA2229563281 | LCAT | c.979G= (p.Gly327=) c.156-174G= c.763G= (p.Gly255=) c.717G= (n.717G=) | |
16 | g.67940248C>G | CA396375932 | LCAT | c.979G>C (p.Gly327Arg) c.156-174G>C c.763G>C (p.Gly255Arg) c.717G>C (n.717G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940248C>T | CA396375931 | LCAT | c.979G>A (p.Gly327Arg) c.156-174G>A c.763G>A (p.Gly255Arg) c.717G>A (n.717G>A) | gnomAD v4 |
16 | g.67940249T>A | CA496384096 | LCAT | c.978A>T (p.Ala326=) c.156-175A>T c.762A>T (p.Ala254=) c.716A>T (n.716A>T) | |
16 | g.67940249T>C | CA496384097 | LCAT | c.978A>G (p.Ala326=) c.156-175A>G c.762A>G (p.Ala254=) c.716A>G (n.716A>G) | dbSNP |
16 | g.67940249T>G | CA496384098 | LCAT | c.978A>C (p.Ala326=) c.156-175A>C c.762A>C (p.Ala254=) c.716A>C (n.716A>C) | gnomAD v4 |
16 | g.67940249T= | CA2229563282 | LCAT | c.978A= (p.Ala326=) c.156-175A= c.762A= (p.Ala254=) c.716A= (n.716A=) | |
16 | g.67940250G>A | CA396375936 | LCAT | c.977C>T (p.Ala326Val) c.156-176C>T c.761C>T (p.Ala254Val) c.715C>T (n.715C>T) | |
16 | g.67940250G>C | CA396375934 | LCAT | c.977C>G (p.Ala326Gly) c.156-176C>G c.761C>G (p.Ala254Gly) c.715C>G (n.715C>G) | |
16 | g.67940250G>T | CA396375935 | LCAT | c.977C>A (p.Ala326Glu) c.156-176C>A c.761C>A (p.Ala254Glu) c.715C>A (n.715C>A) | |
16 | g.67940251_67940263del | CA2633850947 | LCAT | c.965_977del (p.Arg322GlnfsTer?) c.156-188_156-176del c.749_761del (p.Arg250GlnfsTer?) c.703_715del (n.703_715del) | gnomAD v4 |
16 | g.67940251C>A | CA396375937 | LCAT | c.976G>T (p.Ala326Ser) c.156-177G>T c.760G>T (p.Ala254Ser) c.714G>T (n.714G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940251C= | CA2229563283 | LCAT | c.976G= (p.Ala326=) c.156-177G= c.760G= (p.Ala254=) c.714G= (n.714G=) | |
16 | g.67940251C>G | CA396375938 | LCAT | c.976G>C (p.Ala326Pro) c.156-177G>C c.760G>C (p.Ala254Pro) c.714G>C (n.714G>C) | |
16 | g.67940251C>T | CA8120924 | LCAT | c.976G>A (p.Ala326Thr) c.156-177G>A c.760G>A (p.Ala254Thr) c.714G>A (n.714G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940252C>A | CA496384099 | LCAT | c.975G>T (p.Leu325=) c.156-178G>T c.759G>T (p.Leu253=) c.713G>T (n.713G>T) | |
16 | g.67940252C>G | CA496384101 | LCAT | c.975G>C (p.Leu325=) c.156-178G>C c.759G>C (p.Leu253=) c.713G>C (n.713G>C) | |
16 | g.67940252C>T | CA496384100 | LCAT | c.975G>A (p.Leu325=) c.156-178G>A c.759G>A (p.Leu253=) c.713G>A (n.713G>A) | gnomAD v4 |
16 | g.67940252_67940255delinsCAGG | CA2229563284 | LCAT | c.972_975delinsCCTG (p.Leu324=) c.156-181_156-178delinsCCTG c.756_759delinsCCTG (p.Leu252=) c.710_713delinsCCTG (n.710_713delinsCCTG) | |
16 | g.67940253A= | CA2229563285 | LCAT | c.974T= (p.Leu325=) c.156-179T= c.758T= (p.Leu253=) c.712T= (n.712T=) | |
16 | g.67940253A>C | CA396375941 | LCAT | c.974T>G (p.Leu325Arg) c.156-179T>G c.758T>G (p.Leu253Arg) c.712T>G (n.712T>G) | |
16 | g.67940253A>G | CA396375940 | LCAT | c.974T>C (p.Leu325Pro) c.156-179T>C c.758T>C (p.Leu253Pro) c.712T>C (n.712T>C) | dbSNP gnomAD v2 |
16 | g.67940253A>T | CA396375939 | LCAT | c.974T>A (p.Leu325Gln) c.156-179T>A c.758T>A (p.Leu253Gln) c.712T>A (n.712T>A) | |
16 | g.67940256_67940258del | CA116428 | LCAT | c.972_974del (p.Leu325del) c.156-181_156-179del c.756_758del (p.Leu253del) c.710_712del (n.710_712del) | ClinVar dbSNP gnomAD v4 |
16 | g.67940254G>A | CA496384102 | LCAT | c.973C>T (p.Leu325=) c.156-180C>T c.757C>T (p.Leu253=) c.711C>T (n.711C>T) | COSMIC |
16 | g.67940254G>C | CA396375942 | LCAT | c.973C>G (p.Leu325Val) c.156-180C>G c.757C>G (p.Leu253Val) c.711C>G (n.711C>G) | |
16 | g.67940254G>T | CA396375943 | LCAT | c.973C>A (p.Leu325Met) c.156-180C>A c.757C>A (p.Leu253Met) c.711C>A (n.711C>A) | |
16 | g.67940255G>A | CA283160834 | LCAT | c.972C>T (p.Leu324=) c.156-181C>T c.756C>T (p.Leu252=) c.710C>T (n.710C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940255G>C | CA496384103 | LCAT | c.972C>G (p.Leu324=) c.156-181C>G c.756C>G (p.Leu252=) c.710C>G (n.710C>G) | |
16 | g.67940255G= | CA2229563286 | LCAT | c.972C= (p.Leu324=) c.156-181C= c.756C= (p.Leu252=) c.710C= (n.710C=) | |
16 | g.67940255G>T | CA496384104 | LCAT | c.972C>A (p.Leu324=) c.156-181C>A c.756C>A (p.Leu252=) c.710C>A (n.710C>A) | |
16 | g.67940256A>C | CA396375944 | LCAT | c.971T>G (p.Leu324Arg) c.156-182T>G c.755T>G (p.Leu252Arg) c.709T>G (n.709T>G) | |
16 | g.67940256A>G | CA396375945 | LCAT | c.971T>C (p.Leu324Pro) c.156-182T>C c.755T>C (p.Leu252Pro) c.709T>C (n.709T>C) | |
16 | g.67940256A>T | CA396375946 | LCAT | c.971T>A (p.Leu324His) c.156-182T>A c.755T>A (p.Leu252His) c.709T>A (n.709T>A) | dbSNP |
16 | g.67940257G>A | CA396375947 | LCAT | c.970C>T (p.Leu324Phe) c.156-183C>T c.754C>T (p.Leu252Phe) c.708C>T (n.708C>T) | gnomAD v4 |
16 | g.67940257G>C | CA396375949 | LCAT | c.970C>G (p.Leu324Val) c.156-183C>G c.754C>G (p.Leu252Val) c.708C>G (n.708C>G) | dbSNP gnomAD v4 |
16 | g.67940257G>T | CA396375948 | LCAT | c.970C>A (p.Leu324Ile) c.156-183C>A c.754C>A (p.Leu252Ile) c.708C>A (n.708C>A) | COSMIC |
16 | g.67940258G>A | CA496384105 | LCAT | c.969C>T (p.Asp323=) c.156-184C>T c.753C>T (p.Asp251=) c.707C>T (n.707C>T) | gnomAD v4 |
16 | g.67940258G>C | CA396375950 | LCAT | c.969C>G (p.Asp323Glu) c.156-184C>G c.753C>G (p.Asp251Glu) c.707C>G (n.707C>G) | |
16 | g.67940258G= | CA2229563287 | LCAT | c.969C= (p.Asp323=) c.156-184C= c.753C= (p.Asp251=) c.707C= (n.707C=) | |
16 | g.67940258G>T | CA396375951 | LCAT | c.969C>A (p.Asp323Glu) c.156-184C>A c.753C>A (p.Asp251Glu) c.707C>A (n.707C>A) | dbSNP |
16 | g.67940259T>A | CA396375952 | LCAT | c.968A>T (p.Asp323Val) c.156-185A>T c.752A>T (p.Asp251Val) c.706A>T (n.706A>T) | |
16 | g.67940259T>C | CA8120925 | LCAT | c.968A>G (p.Asp323Gly) c.156-185A>G c.752A>G (p.Asp251Gly) c.706A>G (n.706A>G) | dbSNP ExAC |
16 | g.67940259T>G | CA396375953 | LCAT | c.968A>C (p.Asp323Ala) c.156-185A>C c.752A>C (p.Asp251Ala) c.706A>C (n.706A>C) | |
16 | g.67940259T= | CA2229563288 | LCAT | c.968A= (p.Asp323=) c.156-185A= c.752A= (p.Asp251=) c.706A= (n.706A=) | |
16 | g.67940260C>A | CA396375954 | LCAT | c.967G>T (p.Asp323Tyr) c.156-186G>T c.751G>T (p.Asp251Tyr) c.705G>T (n.705G>T) | |
16 | g.67940260C>G | CA396375955 | LCAT | c.967G>C (p.Asp323His) c.156-186G>C c.751G>C (p.Asp251His) c.705G>C (n.705G>C) | |
16 | g.67940260C>T | CA396375956 | LCAT | c.967G>A (p.Asp323Asn) c.156-186G>A c.751G>A (p.Asp251Asn) c.705G>A (n.705G>A) | |
16 | g.67940261A>C | CA496384108 | LCAT | c.966T>G (p.Arg322=) c.156-187T>G c.750T>G (p.Arg250=) c.704T>G (n.704T>G) | |
16 | g.67940261A>G | CA496384107 | LCAT | c.966T>C (p.Arg322=) c.156-187T>C c.750T>C (p.Arg250=) c.704T>C (n.704T>C) | |
16 | g.67940261A>T | CA496384106 | LCAT | c.966T>A (p.Arg322=) c.156-187T>A c.750T>A (p.Arg250=) c.704T>A (n.704T>A) | |
16 | g.67940262C>A | CA396375957 | LCAT | c.965G>T (p.Arg322Leu) c.156-188G>T c.749G>T (p.Arg250Leu) c.703G>T (n.703G>T) | |
16 | g.67940262C= | CA2229563289 | LCAT | c.965G= (p.Arg322=) c.156-188G= c.749G= (p.Arg250=) c.703G= (n.703G=) | |
16 | g.67940262C>G | CA396375958 | LCAT | c.965G>C (p.Arg322Pro) c.156-188G>C c.749G>C (p.Arg250Pro) c.703G>C (n.703G>C) | |
16 | g.67940262C>T | CA8120926 | LCAT | c.965G>A (p.Arg322His) c.156-188G>A c.749G>A (p.Arg250His) c.703G>A (n.703G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940263G>A | CA396375960 | LCAT | c.964C>T (p.Arg322Cys) c.156-189C>T c.748C>T (p.Arg250Cys) c.702C>T (n.702C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940263G>C | CA396375961 | LCAT | c.964C>G (p.Arg322Gly) c.156-189C>G c.748C>G (p.Arg250Gly) c.702C>G (n.702C>G) | |
16 | g.67940263G= | CA2229563290 | LCAT | c.964C= (p.Arg322=) c.156-189C= c.748C= (p.Arg250=) c.702C= (n.702C=) | |
16 | g.67940263G>T | CA396375959 | LCAT | c.964C>A (p.Arg322Ser) c.156-189C>A c.748C>A (p.Arg250Ser) c.702C>A (n.702C>A) | |
16 | g.67940264T>A | CA496384109 | LCAT | c.963A>T (p.Ser321=) c.156-190A>T c.747A>T (p.Ser249=) c.701A>T (n.701A>T) | |
16 | g.67940264T>C | CA496384110 | LCAT | c.963A>G (p.Ser321=) c.156-190A>G c.747A>G (p.Ser249=) c.701A>G (n.701A>G) | |
16 | g.67940264T>G | CA496384111 | LCAT | c.963A>C (p.Ser321=) c.156-190A>C c.747A>C (p.Ser249=) c.701A>C (n.701A>C) | |
16 | g.67940264_67940266del | CA2576033448 | LCAT | c.961_963del (p.Ser321del) c.156-192_156-190del c.745_747del (p.Ser249del) c.699_701del (n.699_701del) | |
16 | g.67940265G>A | CA396375962 | LCAT | c.962C>T (p.Ser321Leu) c.156-191C>T c.746C>T (p.Ser249Leu) c.700C>T (n.700C>T) | COSMIC |
16 | g.67940265G>C | CA396375963 | LCAT | c.962C>G (p.Ser321Ter) c.156-191C>G c.746C>G (p.Ser249Ter) c.700C>G (n.700C>G) | |
16 | g.67940265G>T | CA396375964 | LCAT | c.962C>A (p.Ser321Ter) c.156-191C>A c.746C>A (p.Ser249Ter) c.700C>A (n.700C>A) | |
16 | g.67940266A>C | CA396375965 | LCAT | c.961T>G (p.Ser321Ala) c.156-192T>G c.745T>G (p.Ser249Ala) c.699T>G (n.699T>G) | |
16 | g.67940266A>G | CA396375966 | LCAT | c.961T>C (p.Ser321Pro) c.156-192T>C c.745T>C (p.Ser249Pro) c.699T>C (n.699T>C) | |
16 | g.67940266A>T | CA396375967 | LCAT | c.961T>A (p.Ser321Thr) c.156-192T>A c.745T>A (p.Ser249Thr) c.699T>A (n.699T>A) | |
16 | g.67940267C>A | CA396375968 | LCAT | c.960G>T (p.Gln320His) c.156-193G>T c.744G>T (p.Gln248His) c.698G>T (n.698G>T) | |
16 | g.67940267C>G | CA396375969 | LCAT | c.960G>C (p.Gln320His) c.156-193G>C c.744G>C (p.Gln248His) c.698G>C (n.698G>C) | |
16 | g.67940267C>T | CA496384112 | LCAT | c.960G>A (p.Gln320=) c.156-193G>A c.744G>A (p.Gln248=) c.698G>A (n.698G>A) | |
16 | g.67940268T>A | CA396375970 | LCAT | c.959A>T (p.Gln320Leu) c.156-194A>T c.743A>T (p.Gln248Leu) c.697A>T (n.697A>T) | |
16 | g.67940268T>C | CA396375971 | LCAT | c.959A>G (p.Gln320Arg) c.156-194A>G c.743A>G (p.Gln248Arg) c.697A>G (n.697A>G) | |
16 | g.67940268T>G | CA396375972 | LCAT | c.959A>C (p.Gln320Pro) c.156-194A>C c.743A>C (p.Gln248Pro) c.697A>C (n.697A>C) | |
16 | g.67940269G>A | CA396375973 | LCAT | c.958C>T (p.Gln320Ter) c.156-195C>T c.742C>T (p.Gln248Ter) c.696C>T (n.696C>T) | gnomAD v4 |
16 | g.67940269G>C | CA396375974 | LCAT | c.958C>G (p.Gln320Glu) c.156-195C>G c.742C>G (p.Gln248Glu) c.696C>G (n.696C>G) | |
16 | g.67940269G>T | CA396375975 | LCAT | c.958C>A (p.Gln320Lys) c.156-195C>A c.742C>A (p.Gln248Lys) c.696C>A (n.696C>A) | |
16 | g.67940270C>A | CA496384113 | LCAT | c.957G>T (p.Leu319=) c.156-196G>T c.741G>T (p.Leu247=) c.695G>T (n.695G>T) | |
16 | g.67940270C>G | CA496384114 | LCAT | c.957G>C (p.Leu319=) c.156-196G>C c.741G>C (p.Leu247=) c.695G>C (n.695G>C) | |
16 | g.67940270C>T | CA496384115 | LCAT | c.957G>A (p.Leu319=) c.156-196G>A c.741G>A (p.Leu247=) c.695G>A (n.695G>A) | gnomAD v4 |
16 | g.67940271A>C | CA396375978 | LCAT | c.956T>G (p.Leu319Arg) c.156-197T>G c.740T>G (p.Leu247Arg) c.694T>G (n.694T>G) | |
16 | g.67940271A>G | CA396375977 | LCAT | c.956T>C (p.Leu319Pro) c.156-197T>C c.740T>C (p.Leu247Pro) c.694T>C (n.694T>C) | dbSNP |
16 | g.67940271A>T | CA396375976 | LCAT | c.956T>A (p.Leu319Gln) c.156-197T>A c.740T>A (p.Leu247Gln) c.694T>A (n.694T>A) | |
16 | g.67940272G>A | CA496384116 | LCAT | c.955C>T (p.Leu319=) c.156-198C>T c.739C>T (p.Leu247=) c.693C>T (n.693C>T) | |
16 | g.67940272G>C | CA396375979 | LCAT | c.955C>G (p.Leu319Val) c.156-198C>G c.739C>G (p.Leu247Val) c.693C>G (n.693C>G) | |
16 | g.67940272G>T | CA396375980 | LCAT | c.955C>A (p.Leu319Met) c.156-198C>A c.739C>A (p.Leu247Met) c.693C>A (n.693C>A) | |
16 | g.67940273C>A | CA396375981 | LCAT | c.954G>T (p.Trp318Cys) c.156-199G>T c.738G>T (p.Trp246Cys) c.692G>T (n.692G>T) | |
16 | g.67940273C>G | CA396375982 | LCAT | c.954G>C (p.Trp318Cys) c.156-199G>C c.738G>C (p.Trp246Cys) c.692G>C (n.692G>C) | |
16 | g.67940273C>T | CA396375983 | LCAT | c.954G>A (p.Trp318Ter) c.156-199G>A c.738G>A (p.Trp246Ter) c.692G>A (n.692G>A) | |
16 | g.67940274C>A | CA396375984 | LCAT | c.953G>T (p.Trp318Leu) c.156-200G>T c.737G>T (p.Trp246Leu) c.691G>T (n.691G>T) | |
16 | g.67940274C>G | CA396375985 | LCAT | c.953G>C (p.Trp318Ser) c.156-200G>C c.737G>C (p.Trp246Ser) c.691G>C (n.691G>C) | |
16 | g.67940274C>T | CA396375986 | LCAT | c.953G>A (p.Trp318Ter) c.156-200G>A c.737G>A (p.Trp246Ter) c.691G>A (n.691G>A) | |
16 | g.67940275A>C | CA396375987 | LCAT | c.952T>G (p.Trp318Gly) c.156-201T>G c.736T>G (p.Trp246Gly) c.690T>G (n.690T>G) | |
16 | g.67940275A>G | CA396375988 | LCAT | c.952T>C (p.Trp318Arg) c.156-201T>C c.736T>C (p.Trp246Arg) c.690T>C (n.690T>C) | |
16 | g.67940275A>T | CA396375989 | LCAT | c.952T>A (p.Trp318Arg) c.156-201T>A c.736T>A (p.Trp246Arg) c.690T>A (n.690T>A) | |
16 | g.67940276C>A | CA396375990 | LCAT | c.951G>T (p.Met317Ile) c.156-202G>T c.735G>T (p.Met245Ile) c.689G>T (n.689G>T) | |
16 | g.67940276C= | CA2229563291 | LCAT | c.951G= (p.Met317=) c.156-202G= c.735G= (p.Met245=) c.689G= (n.689G=) | |
16 | g.67940276C>G | CA396375991 | LCAT | c.951G>C (p.Met317Ile) c.156-202G>C c.735G>C (p.Met245Ile) c.689G>C (n.689G>C) | |
16 | g.67940276C>T | CA116414 | LCAT | c.951G>A (p.Met317Ile) c.156-202G>A c.735G>A (p.Met245Ile) c.689G>A (n.689G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.67940277A= | CA2229563292 | LCAT | c.950T= (p.Met317=) c.156-203T= c.734T= (p.Met245=) c.688T= (n.688T=) | |
16 | g.67940277A>C | CA8120927 | LCAT | c.950T>G (p.Met317Arg) c.156-203T>G c.734T>G (p.Met245Arg) c.688T>G (n.688T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940277A>G | CA396375993 | LCAT | c.950T>C (p.Met317Thr) c.156-203T>C c.734T>C (p.Met245Thr) c.688T>C (n.688T>C) | gnomAD v4 |
16 | g.67940277A>T | CA396375992 | LCAT | c.950T>A (p.Met317Lys) c.156-203T>A c.734T>A (p.Met245Lys) c.688T>A (n.688T>A) | |
16 | g.67940278T>A | CA396375994 | LCAT | c.949A>T (p.Met317Leu) c.156-204A>T c.733A>T (p.Met245Leu) c.687A>T (n.687A>T) | |
16 | g.67940278T>C | CA396375995 | LCAT | c.949A>G (p.Met317Val) c.156-204A>G c.733A>G (p.Met245Val) c.687A>G (n.687A>G) | gnomAD v4 |
16 | g.67940278T>G | CA8120928 | LCAT | c.949A>C (p.Met317Leu) c.156-204A>C c.733A>C (p.Met245Leu) c.687A>C (n.687A>C) | dbSNP ExAC gnomAD v2 |
16 | g.67940278T= | CA2229563293 | LCAT | c.949A= (p.Met317=) c.156-204A= c.733A= (p.Met245=) c.687A= (n.687A=) | |
16 | g.67940279G>A | CA496384117 | LCAT | c.948C>T (p.Tyr316=) c.156-205C>T c.732C>T (p.Tyr244=) c.686C>T (n.686C>T) | gnomAD v4 |
16 | g.67940279G>C | CA396375996 | LCAT | c.948C>G (p.Tyr316Ter) c.156-205C>G c.732C>G (p.Tyr244Ter) c.686C>G (n.686C>G) | |
16 | g.67940279G>T | CA396375997 | LCAT | c.948C>A (p.Tyr316Ter) c.156-205C>A c.732C>A (p.Tyr244Ter) c.686C>A (n.686C>A) | |
16 | g.67940280T>A | CA396376000 | LCAT | c.947A>T (p.Tyr316Phe) c.156-206A>T c.731A>T (p.Tyr244Phe) c.685A>T (n.685A>T) | |
16 | g.67940280T>C | CA396375999 | LCAT | c.947A>G (p.Tyr316Cys) c.156-206A>G c.731A>G (p.Tyr244Cys) c.685A>G (n.685A>G) | |
16 | g.67940280T>G | CA396375998 | LCAT | c.947A>C (p.Tyr316Ser) c.156-206A>C c.731A>C (p.Tyr244Ser) c.685A>C (n.685A>C) | |
16 | g.67940281A>C | CA396376001 | LCAT | c.946T>G (p.Tyr316Asp) c.156-207T>G c.730T>G (p.Tyr244Asp) c.684T>G (n.684T>G) | |
16 | g.67940281A>G | CA396376002 | LCAT | c.946T>C (p.Tyr316His) c.156-207T>C c.730T>C (p.Tyr244His) c.684T>C (n.684T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940281A>T | CA396376003 | LCAT | c.946T>A (p.Tyr316Asn) c.156-207T>A c.730T>A (p.Tyr244Asn) c.684T>A (n.684T>A) | |
16 | g.67940282C>A | CA396376004 | LCAT | c.945G>T (p.Trp315Cys) c.156-208G>T c.729G>T (p.Trp243Cys) c.683G>T (n.683G>T) | |
16 | g.67940282C>G | CA396376005 | LCAT | c.945G>C (p.Trp315Cys) c.156-208G>C c.729G>C (p.Trp243Cys) c.683G>C (n.683G>C) | |
16 | g.67940282C>T | CA396376006 | LCAT | c.945G>A (p.Trp315Ter) c.156-208G>A c.729G>A (p.Trp243Ter) c.683G>A (n.683G>A) | |
16 | g.67940283C>A | CA396376007 | LCAT | c.944G>T (p.Trp315Leu) c.156-209G>T c.728G>T (p.Trp243Leu) c.682G>T (n.682G>T) | |
16 | g.67940283C= | CA2229563294 | LCAT | c.944G= (p.Trp315=) c.156-209G= c.728G= (p.Trp243=) c.682G= (n.682G=) | |
16 | g.67940283C>G | CA396376009 | LCAT | c.944G>C (p.Trp315Ser) c.156-209G>C c.728G>C (p.Trp243Ser) c.682G>C (n.682G>C) | dbSNP |
16 | g.67940283C>T | CA396376008 | LCAT | c.944G>A (p.Trp315Ter) c.156-209G>A c.728G>A (p.Trp243Ter) c.682G>A (n.682G>A) | |
16 | g.67940284A>C | CA396376010 | LCAT | c.943T>G (p.Trp315Gly) c.156-210T>G c.727T>G (p.Trp243Gly) c.681T>G (n.681T>G) | |
16 | g.67940284A>G | CA396376011 | LCAT | c.943T>C (p.Trp315Arg) c.156-210T>C c.727T>C (p.Trp243Arg) c.681T>C (n.681T>C) | ClinVar gnomAD v4 |
16 | g.67940284A>T | CA396376012 | LCAT | c.943T>A (p.Trp315Arg) c.156-210T>A c.727T>A (p.Trp243Arg) c.681T>A (n.681T>A) | |
16 | g.67940285G>A | CA496384118 | LCAT | c.942C>T (p.Gly314=) c.156-211C>T c.726C>T (p.Gly242=) c.680C>T (n.680C>T) | dbSNP |
16 | g.67940285G>C | CA496384119 | LCAT | c.942C>G (p.Gly314=) c.156-211C>G c.726C>G (p.Gly242=) c.680C>G (n.680C>G) | |
16 | g.67940285G= | CA2229563295 | LCAT | c.942C= (p.Gly314=) c.156-211C= c.726C= (p.Gly242=) c.680C= (n.680C=) | |
16 | g.67940285G>T | CA496384120 | LCAT | c.942C>A (p.Gly314=) c.156-211C>A c.726C>A (p.Gly242=) c.680C>A (n.680C>A) | |
16 | g.67940286C>A | CA396376013 | LCAT | c.941G>T (p.Gly314Val) c.156-212G>T c.725G>T (p.Gly242Val) c.679G>T (n.679G>T) | |
16 | g.67940286C>G | CA396376014 | LCAT | c.941G>C (p.Gly314Ala) c.156-212G>C c.725G>C (p.Gly242Ala) c.679G>C (n.679G>C) | |
16 | g.67940286C>T | CA396376015 | LCAT | c.941G>A (p.Gly314Asp) c.156-212G>A c.725G>A (p.Gly242Asp) c.679G>A (n.679G>A) | gnomAD v4 |
16 | g.67940287C>A | CA396376016 | LCAT | c.940G>T (p.Gly314Cys) c.156-213G>T c.724G>T (p.Gly242Cys) c.678G>T (n.678G>T) | |
16 | g.67940287C>G | CA396376017 | LCAT | c.940G>C (p.Gly314Arg) c.156-213G>C c.724G>C (p.Gly242Arg) c.678G>C (n.678G>C) | |
16 | g.67940287C>T | CA396376018 | LCAT | c.940G>A (p.Gly314Ser) c.156-213G>A c.724G>A (p.Gly242Ser) c.678G>A (n.678G>A) | |
16 | g.67940288T>A | CA396376019 | LCAT | c.939A>T (p.Glu313Asp) c.156-214A>T c.723A>T (p.Glu241Asp) c.677A>T (n.677A>T) | |
16 | g.67940288T>C | CA496384121 | LCAT | c.939A>G (p.Glu313=) c.156-214A>G c.723A>G (p.Glu241=) c.677A>G (n.677A>G) | COSMIC |
16 | g.67940288T>G | CA396376020 | LCAT | c.939A>C (p.Glu313Asp) c.156-214A>C c.723A>C (p.Glu241Asp) c.677A>C (n.677A>C) | |
16 | g.67940289T>A | CA396376023 | LCAT | c.938A>T (p.Glu313Val) c.156-215A>T c.722A>T (p.Glu241Val) c.676A>T (n.676A>T) | |
16 | g.67940289T>C | CA396376021 | LCAT | c.938A>G (p.Glu313Gly) c.156-215A>G c.722A>G (p.Glu241Gly) c.676A>G (n.676A>G) | |
16 | g.67940289T>G | CA396376022 | LCAT | c.938A>C (p.Glu313Ala) c.156-215A>C c.722A>C (p.Glu241Ala) c.676A>C (n.676A>C) | |
16 | g.67940290C>A | CA396376024 | LCAT | c.937G>T (p.Glu313Ter) c.156-216G>T c.721G>T (p.Glu241Ter) c.675G>T (n.675G>T) | |
16 | g.67940290C= | CA2229563296 | LCAT | c.937G= (p.Glu313=) c.156-216G= c.721G= (p.Glu241=) c.675G= (n.675G=) | |
16 | g.67940290C>G | CA396376025 | LCAT | c.937G>C (p.Glu313Gln) c.156-216G>C c.721G>C (p.Glu241Gln) c.675G>C (n.675G>C) | |
16 | g.67940290C>T | CA8120929 | LCAT | c.937G>A (p.Glu313Lys) c.156-216G>A c.721G>A (p.Glu241Lys) c.675G>A (n.675G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940291C>A | CA396376026 | LCAT | c.936G>T (p.Glu312Asp) c.156-217G>T c.720G>T (p.Glu240Asp) c.674G>T (n.674G>T) | |
16 | g.67940291C= | CA2229563297 | LCAT | c.936G= (p.Glu312=) c.156-217G= c.720G= (p.Glu240=) c.674G= (n.674G=) | |
16 | g.67940291C>G | CA396376027 | LCAT | c.936G>C (p.Glu312Asp) c.156-217G>C c.720G>C (p.Glu240Asp) c.674G>C (n.674G>C) | |
16 | g.67940291C>T | CA8120930 | LCAT | c.936G>A (p.Glu312=) c.156-217G>A c.720G>A (p.Glu240=) c.674G>A (n.674G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940292T>A | CA396376028 | LCAT | c.935A>T (p.Glu312Val) c.156-218A>T c.719A>T (p.Glu240Val) c.673A>T (n.673A>T) | |
16 | g.67940292T>C | CA396376029 | LCAT | c.935A>G (p.Glu312Gly) c.156-218A>G c.719A>G (p.Glu240Gly) c.673A>G (n.673A>G) | gnomAD v4 |
16 | g.67940292T>G | CA396376030 | LCAT | c.935A>C (p.Glu312Ala) c.156-218A>C c.719A>C (p.Glu240Ala) c.673A>C (n.673A>C) | |
16 | g.67940293C>A | CA396376031 | LCAT | c.934G>T (p.Glu312Ter) c.156-219G>T c.718G>T (p.Glu240Ter) c.672G>T (n.672G>T) | |
16 | g.67940293C= | CA2229563298 | LCAT | c.934G= (p.Glu312=) c.156-219G= c.718G= (p.Glu240=) c.672G= (n.672G=) | |
16 | g.67940293C>G | CA8120931 | LCAT | c.934G>C (p.Glu312Gln) c.156-219G>C c.718G>C (p.Glu240Gln) c.672G>C (n.672G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940293C>T | CA396376032 | LCAT | c.934G>A (p.Glu312Lys) c.156-219G>A c.718G>A (p.Glu240Lys) c.672G>A (n.672G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940293_67940294delinsCA | CA2229563299 | LCAT | c.933_934delinsTG (p.Phe311=) c.156-220_156-219delinsTG c.717_718delinsTG (p.Phe239=) c.671_672delinsTG (n.671_672delinsTG) | |
16 | g.67940294A>C | CA396376033 | LCAT | c.933T>G (p.Phe311Leu) c.156-220T>G c.717T>G (p.Phe239Leu) c.671T>G (n.671T>G) | |
16 | g.67940294A>G | CA496384122 | LCAT | c.933T>C (p.Phe311=) c.156-220T>C c.717T>C (p.Phe239=) c.671T>C (n.671T>C) | |
16 | g.67940294A>T | CA396376034 | LCAT | c.933T>A (p.Phe311Leu) c.156-220T>A c.717T>A (p.Phe239Leu) c.671T>A (n.671T>A) | |
16 | g.67940296del | CA723097531 | LCAT | c.933del (p.Phe311LeufsTer?) c.156-220del c.717del (p.Phe239LeufsTer?) c.671del (n.671del) | dbSNP |
16 | g.67940295A>C | CA396376037 | LCAT | c.932T>G (p.Phe311Cys) c.156-221T>G c.716T>G (p.Phe239Cys) c.670T>G (n.670T>G) | |
16 | g.67940295A>G | CA396376036 | LCAT | c.932T>C (p.Phe311Ser) c.156-221T>C c.716T>C (p.Phe239Ser) c.670T>C (n.670T>C) | |
16 | g.67940295A>T | CA396376035 | LCAT | c.932T>A (p.Phe311Tyr) c.156-221T>A c.716T>A (p.Phe239Tyr) c.670T>A (n.670T>A) | |
16 | g.67940296A>C | CA396376038 | LCAT | c.931T>G (p.Phe311Val) c.156-222T>G c.715T>G (p.Phe239Val) c.669T>G (n.669T>G) | |
16 | g.67940296A>G | CA396376039 | LCAT | c.931T>C (p.Phe311Leu) c.156-222T>C c.715T>C (p.Phe239Leu) c.669T>C (n.669T>C) | |
16 | g.67940296A>T | CA396376040 | LCAT | c.931T>A (p.Phe311Ile) c.156-222T>A c.715T>A (p.Phe239Ile) c.669T>A (n.669T>A) | |
16 | g.67940297G>A | CA496384123 | LCAT | c.930C>T (p.His310=) c.156-223C>T c.714C>T (p.His238=) c.668C>T (n.668C>T) | COSMIC |
16 | g.67940297G>C | CA396376041 | LCAT | c.930C>G (p.His310Gln) c.156-223C>G c.714C>G (p.His238Gln) c.668C>G (n.668C>G) | |
16 | g.67940297G>T | CA396376042 | LCAT | c.930C>A (p.His310Gln) c.156-223C>A c.714C>A (p.His238Gln) c.668C>A (n.668C>A) | |
16 | g.67940298T>A | CA396376043 | LCAT | c.929A>T (p.His310Leu) c.156-224A>T c.713A>T (p.His238Leu) c.667A>T (n.667A>T) | gnomAD v4 |
16 | g.67940298T>C | CA396376044 | LCAT | c.929A>G (p.His310Arg) c.156-224A>G c.713A>G (p.His238Arg) c.667A>G (n.667A>G) | gnomAD v4 |
16 | g.67940298T>G | CA396376045 | LCAT | c.929A>C (p.His310Pro) c.156-224A>C c.713A>C (p.His238Pro) c.667A>C (n.667A>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940298T= | CA2229563300 | LCAT | c.929A= (p.His310=) c.156-224A= c.713A= (p.His238=) c.667A= (n.667A=) | |
16 | g.67940299G>A | CA396376046 | LCAT | c.928C>T (p.His310Tyr) c.156-225C>T c.712C>T (p.His238Tyr) c.666C>T (n.666C>T) | gnomAD v4 |
16 | g.67940299G>C | CA396376047 | LCAT | c.928C>G (p.His310Asp) c.156-225C>G c.712C>G (p.His238Asp) c.666C>G (n.666C>G) | |
16 | g.67940299G>T | CA396376048 | LCAT | c.928C>A (p.His310Asn) c.156-225C>A c.712C>A (p.His238Asn) c.666C>A (n.666C>A) | |
16 | g.67940300C>A | CA496384124 | LCAT | c.927G>T (p.Leu309=) c.156-226G>T c.711G>T (p.Leu237=) c.665G>T (n.665G>T) | |
16 | g.67940300C= | CA2229563301 | LCAT | c.927G= (p.Leu309=) c.156-226G= c.711G= (p.Leu237=) c.665G= (n.665G=) | |
16 | g.67940300C>G | CA283160899 | LCAT | c.927G>C (p.Leu309=) c.156-226G>C c.711G>C (p.Leu237=) c.665G>C (n.665G>C) | dbSNP |
16 | g.67940300C>T | CA496384125 | LCAT | c.927G>A (p.Leu309=) c.156-226G>A c.711G>A (p.Leu237=) c.665G>A (n.665G>A) | gnomAD v4 |
16 | g.67940301A>C | CA396376049 | LCAT | c.926T>G (p.Leu309Arg) c.156-227T>G c.710T>G (p.Leu237Arg) c.664T>G (n.664T>G) | |
16 | g.67940301A>G | CA396376050 | LCAT | c.926T>C (p.Leu309Pro) c.156-227T>C c.710T>C (p.Leu237Pro) c.664T>C (n.664T>C) | gnomAD v4 |
16 | g.67940301A>T | CA396376051 | LCAT | c.926T>A (p.Leu309Gln) c.156-227T>A c.710T>A (p.Leu237Gln) c.664T>A (n.664T>A) | |
16 | g.67940302G>A | CA8120933 | LCAT | c.925C>T (p.Leu309=) c.156-228C>T c.709C>T (p.Leu237=) c.663C>T (n.663C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940302G>C | CA8120932 | LCAT | c.925C>G (p.Leu309Val) c.156-228C>G c.709C>G (p.Leu237Val) c.663C>G (n.663C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940302G= | CA2229563302 | LCAT | c.925C= (p.Leu309=) c.156-228C= c.709C= (p.Leu237=) c.663C= (n.663C=) | |
16 | g.67940302G>T | CA396376052 | LCAT | c.925C>A (p.Leu309Met) c.156-228C>A c.709C>A (p.Leu237Met) c.663C>A (n.663C>A) | |
16 | g.67940303G>A | CA496384126 | LCAT | c.924C>T (p.Asp308=) c.156-229C>T c.708C>T (p.Asp236=) c.662C>T (n.662C>T) | |
16 | g.67940303G>C | CA396376053 | LCAT | c.924C>G (p.Asp308Glu) c.156-229C>G c.708C>G (p.Asp236Glu) c.662C>G (n.662C>G) | |
16 | g.67940303G>T | CA396376054 | LCAT | c.924C>A (p.Asp308Glu) c.156-229C>A c.708C>A (p.Asp236Glu) c.662C>A (n.662C>A) | gnomAD v4 |
16 | g.67940304T>A | CA396376055 | LCAT | c.923A>T (p.Asp308Val) c.156-230A>T c.707A>T (p.Asp236Val) c.661A>T (n.661A>T) | |
16 | g.67940304T>C | CA396376056 | LCAT | c.923A>G (p.Asp308Gly) c.156-230A>G c.707A>G (p.Asp236Gly) c.661A>G (n.661A>G) | |
16 | g.67940304T>G | CA396376057 | LCAT | c.923A>C (p.Asp308Ala) c.156-230A>C c.707A>C (p.Asp236Ala) c.661A>C (n.661A>C) | |
16 | g.67940305C>A | CA396376058 | LCAT | c.922G>T (p.Asp308Tyr) c.156-231G>T c.706G>T (p.Asp236Tyr) c.660G>T (n.660G>T) | |
16 | g.67940305C>G | CA396376059 | LCAT | c.922G>C (p.Asp308His) c.156-231G>C c.706G>C (p.Asp236His) c.660G>C (n.660G>C) | |
16 | g.67940305C>T | CA396376060 | LCAT | c.922G>A (p.Asp308Asn) c.156-231G>A c.706G>A (p.Asp236Asn) c.660G>A (n.660G>A) | |
16 | g.67940306T>A | CA496384127 | LCAT | c.921A>T (p.Ala307=) c.156-232A>T c.705A>T (p.Ala235=) c.659A>T (n.659A>T) | |
16 | g.67940306T>C | CA496384128 | LCAT | c.921A>G (p.Ala307=) c.156-232A>G c.705A>G (p.Ala235=) c.659A>G (n.659A>G) | |
16 | g.67940306T>G | CA496384129 | LCAT | c.921A>C (p.Ala307=) c.156-232A>C c.705A>C (p.Ala235=) c.659A>C (n.659A>C) | |
16 | g.67940307G>A | CA396376061 | LCAT | c.920C>T (p.Ala307Val) c.156-233C>T c.704C>T (p.Ala235Val) c.658C>T (n.658C>T) | |
16 | g.67940307G>C | CA396376062 | LCAT | c.920C>G (p.Ala307Gly) c.156-233C>G c.704C>G (p.Ala235Gly) c.658C>G (n.658C>G) | |
16 | g.67940307G>T | CA396376063 | LCAT | c.920C>A (p.Ala307Glu) c.156-233C>A c.704C>A (p.Ala235Glu) c.658C>A (n.658C>A) | |
16 | g.67940308C>A | CA396376064 | LCAT | c.919G>T (p.Ala307Ser) c.156-234G>T c.703G>T (p.Ala235Ser) c.657G>T (n.657G>T) | |
16 | g.67940308C>G | CA396376065 | LCAT | c.919G>C (p.Ala307Pro) c.156-234G>C c.703G>C (p.Ala235Pro) c.657G>C (n.657G>C) | |
16 | g.67940308C>T | CA396376066 | LCAT | c.919G>A (p.Ala307Thr) c.156-234G>A c.703G>A (p.Ala235Thr) c.657G>A (n.657G>A) | |
16 | g.67940309A= | CA2229563303 | LCAT | c.918T= (p.Phe306=) c.156-235T= c.702T= (p.Phe234=) c.656T= (n.656T=) | |
16 | g.67940309A>C | CA396376067 | LCAT | c.918T>G (p.Phe306Leu) c.156-235T>G c.702T>G (p.Phe234Leu) c.656T>G (n.656T>G) | |
16 | g.67940309A>G | CA496384130 | LCAT | c.918T>C (p.Phe306=) c.156-235T>C c.702T>C (p.Phe234=) c.656T>C (n.656T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940309A>T | CA396376068 | LCAT | c.918T>A (p.Phe306Leu) c.156-235T>A c.702T>A (p.Phe234Leu) c.656T>A (n.656T>A) | |
16 | g.67940310A>C | CA396376069 | LCAT | c.917T>G (p.Phe306Cys) c.156-236T>G c.701T>G (p.Phe234Cys) c.655T>G (n.655T>G) | |
16 | g.67940310A>G | CA396376070 | LCAT | c.917T>C (p.Phe306Ser) c.156-236T>C c.701T>C (p.Phe234Ser) c.655T>C (n.655T>C) | |
16 | g.67940310A>T | CA396376071 | LCAT | c.917T>A (p.Phe306Tyr) c.156-236T>A c.701T>A (p.Phe234Tyr) c.655T>A (n.655T>A) | |
16 | g.67940311A>C | CA396376072 | LCAT | c.916T>G (p.Phe306Val) c.156-237T>G c.700T>G (p.Phe234Val) c.654T>G (n.654T>G) | |
16 | g.67940311A>G | CA396376073 | LCAT | c.916T>C (p.Phe306Leu) c.156-237T>C c.700T>C (p.Phe234Leu) c.654T>C (n.654T>C) | gnomAD v4 |
16 | g.67940311A>T | CA396376074 | LCAT | c.916T>A (p.Phe306Ile) c.156-237T>A c.700T>A (p.Phe234Ile) c.654T>A (n.654T>A) | |
16 | g.67940312G>A | CA496384131 | LCAT | c.915C>T (p.Phe305=) c.156-238C>T c.699C>T (p.Phe233=) c.653C>T (n.653C>T) | |
16 | g.67940312G>C | CA396376075 | LCAT | c.915C>G (p.Phe305Leu) c.156-238C>G c.699C>G (p.Phe233Leu) c.653C>G (n.653C>G) | |
16 | g.67940312G>T | CA396376076 | LCAT | c.915C>A (p.Phe305Leu) c.156-238C>A c.699C>A (p.Phe233Leu) c.653C>A (n.653C>A) | |
16 | g.67940313A>C | CA396376077 | LCAT | c.914T>G (p.Phe305Cys) c.156-239T>G c.698T>G (p.Phe233Cys) c.652T>G (n.652T>G) | |
16 | g.67940313A>G | CA396376078 | LCAT | c.914T>C (p.Phe305Ser) c.156-239T>C c.698T>C (p.Phe233Ser) c.652T>C (n.652T>C) | |
16 | g.67940313A>T | CA396376079 | LCAT | c.914T>A (p.Phe305Tyr) c.156-239T>A c.698T>A (p.Phe233Tyr) c.652T>A (n.652T>A) | gnomAD v4 |
16 | g.67940314A>C | CA396376080 | LCAT | c.913T>G (p.Phe305Val) c.156-240T>G c.697T>G (p.Phe233Val) c.651T>G (n.651T>G) | |
16 | g.67940314A>G | CA396376082 | LCAT | c.913T>C (p.Phe305Leu) c.156-240T>C c.697T>C (p.Phe233Leu) c.651T>C (n.651T>C) | |
16 | g.67940314A>T | CA396376081 | LCAT | c.913T>A (p.Phe305Ile) c.156-240T>A c.697T>A (p.Phe233Ile) c.651T>A (n.651T>A) | |
16 | g.67940315G>A | CA496384132 | LCAT | c.912C>T (p.Arg304=) c.156-241C>T c.696C>T (p.Arg232=) c.650C>T (n.650C>T) | gnomAD v4 |
16 | g.67940315G>C | CA496384134 | LCAT | c.912C>G (p.Arg304=) c.156-241C>G c.696C>G (p.Arg232=) c.650C>G (n.650C>G) | |
16 | g.67940315G>T | CA496384133 | LCAT | c.912C>A (p.Arg304=) c.156-241C>A c.696C>A (p.Arg232=) c.650C>A (n.650C>A) | |
16 | g.67940316C>A | CA396376083 | LCAT | c.911G>T (p.Arg304Leu) c.156-242G>T c.695G>T (p.Arg232Leu) c.649G>T (n.649G>T) | |
16 | g.67940316C= | CA2229563304 | LCAT | c.911G= (p.Arg304=) c.156-242G= c.695G= (p.Arg232=) c.649G= (n.649G=) | |
16 | g.67940316C>G | CA396376085 | LCAT | c.911G>C (p.Arg304Pro) c.156-242G>C c.695G>C (p.Arg232Pro) c.649G>C (n.649G>C) | |
16 | g.67940316C>T | CA396376084 | LCAT | c.911G>A (p.Arg304His) c.156-242G>A c.695G>A (p.Arg232His) c.649G>A (n.649G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940317G>A | CA396376086 | LCAT | c.910C>T (p.Arg304Cys) c.156-243C>T c.694C>T (p.Arg232Cys) c.648C>T (n.648C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.67940317G>C | CA396376087 | LCAT | c.910C>G (p.Arg304Gly) c.156-243C>G c.694C>G (p.Arg232Gly) c.648C>G (n.648C>G) | |
16 | g.67940317G= | CA2229563305 | LCAT | c.910C= (p.Arg304=) c.156-243C= c.694C= (p.Arg232=) c.648C= (n.648C=) | |
16 | g.67940317G>T | CA396376088 | LCAT | c.910C>A (p.Arg304Ser) c.156-243C>A c.694C>A (p.Arg232Ser) c.648C>A (n.648C>A) | |
16 | g.67940318T>A | CA396376089 | LCAT | c.909A>T (p.Gln303His) c.156-244A>T c.693A>T (p.Gln231His) c.647A>T (n.647A>T) | |
16 | g.67940318T>C | CA496384135 | LCAT | c.909A>G (p.Gln303=) c.156-244A>G c.693A>G (p.Gln231=) c.647A>G (n.647A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940318T>G | CA396376090 | LCAT | c.909A>C (p.Gln303His) c.156-244A>C c.693A>C (p.Gln231His) c.647A>C (n.647A>C) | |
16 | g.67940318T= | CA2229563306 | LCAT | c.909A= (p.Gln303=) c.156-244A= c.693A= (p.Gln231=) c.647A= (n.647A=) | |
16 | g.67940319T>A | CA396376091 | LCAT | c.908A>T (p.Gln303Leu) c.156-245A>T c.692A>T (p.Gln231Leu) c.646A>T (n.646A>T) | |
16 | g.67940319T>C | CA396376092 | LCAT | c.908A>G (p.Gln303Arg) c.156-245A>G c.692A>G (p.Gln231Arg) c.646A>G (n.646A>G) | |
16 | g.67940319T>G | CA396376093 | LCAT | c.908A>C (p.Gln303Pro) c.156-245A>C c.692A>C (p.Gln231Pro) c.646A>C (n.646A>C) | |
16 | g.67940320G>A | CA396376094 | LCAT | c.907C>T (p.Gln303Ter) c.156-246C>T c.691C>T (p.Gln231Ter) c.645C>T (n.645C>T) | |
16 | g.67940320G>C | CA396376095 | LCAT | c.907C>G (p.Gln303Glu) c.156-246C>G c.691C>G (p.Gln231Glu) c.645C>G (n.645C>G) | |
16 | g.67940320G>T | CA396376096 | LCAT | c.907C>A (p.Gln303Lys) c.156-246C>A c.691C>A (p.Gln231Lys) c.645C>A (n.645C>A) |