Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.45476581C>A | CA2349464 | LARS2 | c.972C>A (p.His324Gln) c.*840C>A (n.*840C>A) c.843C>A (p.His281Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476581C= | CA1361691403 | LARS2 | c.972C= (p.His324=) c.*840C= (n.*840C=) c.843C= (p.His281=) | |
3 | g.45476581C>G | CA352423882 | LARS2 | c.972C>G (p.His324Gln) c.*840C>G (n.*840C>G) c.843C>G (p.His281Gln) | |
3 | g.45476581C>T | CA433433067 | LARS2 | c.972C>T (p.His324=) c.*840C>T (n.*840C>T) c.843C>T (p.His281=) | dbSNP gnomAD v4 |
3 | g.45476582del | CA2665386320 | LARS2 | c.973del (p.Ser325AlafsTer3) c.*841del (n.*841del) c.844del (p.Ser282AlafsTer3) | gnomAD v4 |
3 | g.45476582A>C | CA352423884 | LARS2 | c.973A>C (p.Ser325Arg) c.*841A>C (n.*841A>C) c.844A>C (p.Ser282Arg) | |
3 | g.45476582A>G | CA352423886 | LARS2 | c.973A>G (p.Ser325Gly) c.*841A>G (n.*841A>G) c.844A>G (p.Ser282Gly) | ClinVar |
3 | g.45476582A>T | CA352423887 | LARS2 | c.973A>T (p.Ser325Cys) c.*841A>T (n.*841A>T) c.844A>T (p.Ser282Cys) | |
3 | g.45476583G>A | CA352423891 | LARS2 | c.974G>A (p.Ser325Asn) c.*842G>A (n.*842G>A) c.845G>A (p.Ser282Asn) | gnomAD v4 |
3 | g.45476583G>C | CA352423889 | LARS2 | c.974G>C (p.Ser325Thr) c.*842G>C (n.*842G>C) c.845G>C (p.Ser282Thr) | gnomAD v4 |
3 | g.45476583G= | CA1361691404 | LARS2 | c.974G= (p.Ser325=) c.*842G= (n.*842G=) c.845G= (p.Ser282=) | |
3 | g.45476583G>T | CA73581478 | LARS2 | c.974G>T (p.Ser325Ile) c.*842G>T (n.*842G>T) c.845G>T (p.Ser282Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45476584C>A | CA352423893 | LARS2 | c.975C>A (p.Ser325Arg) c.*843C>A (n.*843C>A) c.846C>A (p.Ser282Arg) | |
3 | g.45476584C= | CA1361691405 | LARS2 | c.975C= (p.Ser325=) c.*843C= (n.*843C=) c.846C= (p.Ser282=) | |
3 | g.45476584C>G | CA352423895 | LARS2 | c.975C>G (p.Ser325Arg) c.*843C>G (n.*843C>G) c.846C>G (p.Ser282Arg) | |
3 | g.45476584C>T | CA73581480 | LARS2 | c.975C>T (p.Ser325=) c.*843C>T (n.*843C>T) c.846C>T (p.Ser282=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45476585T>A | CA352423896 | LARS2 | c.976T>A (p.Ser326Thr) c.*844T>A (n.*844T>A) c.847T>A (p.Ser283Thr) | |
3 | g.45476585T>C | CA352423898 | LARS2 | c.976T>C (p.Ser326Pro) c.*844T>C (n.*844T>C) c.847T>C (p.Ser283Pro) | |
3 | g.45476585T>G | CA352423900 | LARS2 | c.976T>G (p.Ser326Ala) c.*844T>G (n.*844T>G) c.847T>G (p.Ser283Ala) | |
3 | g.45476586C>A | CA2349465 | LARS2 | c.977C>A (p.Ser326Tyr) c.*845C>A (n.*845C>A) c.848C>A (p.Ser283Tyr) | dbSNP ExAC gnomAD v2 |
3 | g.45476586C= | CA1361691406 | LARS2 | c.977C= (p.Ser326=) c.*845C= (n.*845C=) c.848C= (p.Ser283=) | |
3 | g.45476586C>G | CA352423901 | LARS2 | c.977C>G (p.Ser326Cys) c.*845C>G (n.*845C>G) c.848C>G (p.Ser283Cys) | |
3 | g.45476586C>T | CA2349466 | LARS2 | c.977C>T (p.Ser326Phe) c.*845C>T (n.*845C>T) c.848C>T (p.Ser283Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476587T>A | CA433433068 | LARS2 | c.978T>A (p.Ser326=) c.*846T>A (n.*846T>A) c.849T>A (p.Ser283=) | dbSNP |
3 | g.45476587T>C | CA433433069 | LARS2 | c.978T>C (p.Ser326=) c.*846T>C (n.*846T>C) c.849T>C (p.Ser283=) | |
3 | g.45476587T>G | CA433433070 | LARS2 | c.978T>G (p.Ser326=) c.*846T>G (n.*846T>G) c.849T>G (p.Ser283=) | |
3 | g.45476587T= | CA1361691407 | LARS2 | c.978T= (p.Ser326=) c.*846T= (n.*846T=) c.849T= (p.Ser283=) | |
3 | g.45476588C>A | CA352423904 | LARS2 | c.979C>A (p.Leu327Met) c.*847C>A (n.*847C>A) c.850C>A (p.Leu284Met) | |
3 | g.45476588C>G | CA352423906 | LARS2 | c.979C>G (p.Leu327Val) c.*847C>G (n.*847C>G) c.850C>G (p.Leu284Val) | |
3 | g.45476588C>T | CA433433071 | LARS2 | c.979C>T (p.Leu327=) c.*847C>T (n.*847C>T) c.850C>T (p.Leu284=) | gnomAD v4 |
3 | g.45476589del | CA2665386321 | LARS2 | c.980del (p.Leu327ArgfsTer5) c.*848del (n.*848del) c.851del (p.Leu284ArgfsTer5) | gnomAD v4 |
3 | g.45476589T>A | CA352423908 | LARS2 | c.980T>A (p.Leu327Gln) c.*848T>A (n.*848T>A) c.851T>A (p.Leu284Gln) | |
3 | g.45476589T>C | CA352423909 | LARS2 | c.980T>C (p.Leu327Pro) c.*848T>C (n.*848T>C) c.851T>C (p.Leu284Pro) | |
3 | g.45476589T>G | CA352423911 | LARS2 | c.980T>G (p.Leu327Arg) c.*848T>G (n.*848T>G) c.851T>G (p.Leu284Arg) | |
3 | g.45476590G>A | CA433433072 | LARS2 | c.981G>A (p.Leu327=) c.*849G>A (n.*849G>A) c.852G>A (p.Leu284=) | |
3 | g.45476590G>C | CA433433073 | LARS2 | c.981G>C (p.Leu327=) c.*849G>C (n.*849G>C) c.852G>C (p.Leu284=) | |
3 | g.45476590G>T | CA433433074 | LARS2 | c.981G>T (p.Leu327=) c.*849G>T (n.*849G>T) c.852G>T (p.Leu284=) | |
3 | g.45476591A= | CA1361691408 | LARS2 | c.982A= (p.Lys328=) c.*850A= (n.*850A=) c.853A= (p.Lys285=) | |
3 | g.45476591A>C | CA352423915 | LARS2 | c.982A>C (p.Lys328Gln) c.*850A>C (n.*850A>C) c.853A>C (p.Lys285Gln) | |
3 | g.45476591A>G | CA73581494 | LARS2 | c.982A>G (p.Lys328Glu) c.*850A>G (n.*850A>G) c.853A>G (p.Lys285Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476591A>T | CA352423914 | LARS2 | c.982A>T (p.Lys328Ter) c.*850A>T (n.*850A>T) c.853A>T (p.Lys285Ter) | |
3 | g.45476592A>C | CA352423917 | LARS2 | c.983A>C (p.Lys328Thr) c.*851A>C (n.*851A>C) c.854A>C (p.Lys285Thr) | |
3 | g.45476592A>G | CA352423919 | LARS2 | c.983A>G (p.Lys328Arg) c.*851A>G (n.*851A>G) c.854A>G (p.Lys285Arg) | |
3 | g.45476592A>T | CA352423921 | LARS2 | c.983A>T (p.Lys328Met) c.*851A>T (n.*851A>T) c.854A>T (p.Lys285Met) | |
3 | g.45476593G>A | CA73581499 | LARS2 | c.984G>A (p.Lys328=) c.*852G>A (n.*852G>A) c.855G>A (p.Lys285=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45476593G>C | CA352423922 | LARS2 | c.984G>C (p.Lys328Asn) c.*852G>C (n.*852G>C) c.855G>C (p.Lys285Asn) | |
3 | g.45476593G= | CA1361691409 | LARS2 | c.984G= (p.Lys328=) c.*852G= (n.*852G=) c.855G= (p.Lys285=) | |
3 | g.45476593G>T | CA352423923 | LARS2 | c.984G>T (p.Lys328Asn) c.*852G>T (n.*852G>T) c.855G>T (p.Lys285Asn) | |
3 | g.45476594G>A | CA352423925 | LARS2 | c.985G>A (p.Glu329Lys) c.*853G>A (n.*853G>A) c.856G>A (p.Glu286Lys) | |
3 | g.45476594G>C | CA352423927 | LARS2 | c.985G>C (p.Glu329Gln) c.*853G>C (n.*853G>C) c.856G>C (p.Glu286Gln) | |
3 | g.45476594G>T | CA352423929 | LARS2 | c.985G>T (p.Glu329Ter) c.*853G>T (n.*853G>T) c.856G>T (p.Glu286Ter) | |
3 | g.45476595A>C | CA352423931 | LARS2 | c.986A>C (p.Glu329Ala) c.*854A>C (n.*854A>C) c.857A>C (p.Glu286Ala) | gnomAD v4 |
3 | g.45476595A>G | CA352423932 | LARS2 | c.986A>G (p.Glu329Gly) c.*854A>G (n.*854A>G) c.857A>G (p.Glu286Gly) | ClinVar |
3 | g.45476595A>T | CA352423934 | LARS2 | c.986A>T (p.Glu329Val) c.*854A>T (n.*854A>T) c.857A>T (p.Glu286Val) | |
3 | g.45476596A>C | CA352423936 | LARS2 | c.987A>C (p.Glu329Asp) c.*855A>C (n.*855A>C) c.858A>C (p.Glu286Asp) | |
3 | g.45476596A>G | CA433433075 | LARS2 | c.987A>G (p.Glu329=) c.*855A>G (n.*855A>G) c.858A>G (p.Glu286=) | |
3 | g.45476596A>T | CA352423937 | LARS2 | c.987A>T (p.Glu329Asp) c.*855A>T (n.*855A>T) c.858A>T (p.Glu286Asp) | |
3 | g.45476597G>A | CA352423938 | LARS2 | c.988G>A (p.Ala330Thr) c.*856G>A (n.*856G>A) c.859G>A (p.Ala287Thr) | |
3 | g.45476597G>C | CA352423941 | LARS2 | c.988G>C (p.Ala330Pro) c.*856G>C (n.*856G>C) c.859G>C (p.Ala287Pro) | |
3 | g.45476597G>T | CA352423940 | LARS2 | c.988G>T (p.Ala330Ser) c.*856G>T (n.*856G>T) c.859G>T (p.Ala287Ser) | |
3 | g.45476598C>A | CA352423943 | LARS2 | c.989C>A (p.Ala330Asp) c.*857C>A (n.*857C>A) c.860C>A (p.Ala287Asp) | |
3 | g.45476598C= | CA1361691410 | LARS2 | c.989C= (p.Ala330=) c.*857C= (n.*857C=) c.860C= (p.Ala287=) | |
3 | g.45476598C>G | CA352423944 | LARS2 | c.989C>G (p.Ala330Gly) c.*857C>G (n.*857C>G) c.860C>G (p.Ala287Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476598C>T | CA352423946 | LARS2 | c.989C>T (p.Ala330Val) c.*857C>T (n.*857C>T) c.860C>T (p.Ala287Val) | |
3 | g.45476599C>A | CA433433076 | LARS2 | c.990C>A (p.Ala330=) c.*858C>A (n.*858C>A) c.861C>A (p.Ala287=) | |
3 | g.45476599C>G | CA433433077 | LARS2 | c.990C>G (p.Ala330=) c.*858C>G (n.*858C>G) c.861C>G (p.Ala287=) | |
3 | g.45476599C>T | CA433433078 | LARS2 | c.990C>T (p.Ala330=) c.*858C>T (n.*858C>T) c.861C>T (p.Ala287=) | |
3 | g.45476600T>A | CA352423948 | LARS2 | c.991T>A (p.Leu331Met) c.*859T>A (n.*859T>A) c.862T>A (p.Leu288Met) | |
3 | g.45476600T>C | CA433433079 | LARS2 | c.991T>C (p.Leu331=) c.*859T>C (n.*859T>C) c.862T>C (p.Leu288=) | |
3 | g.45476600T>G | CA352423950 | LARS2 | c.991T>G (p.Leu331Val) c.*859T>G (n.*859T>G) c.862T>G (p.Leu288Val) | |
3 | g.45476601T>A | CA352423951 | LARS2 | c.992T>A (p.Leu331Ter) c.*860T>A (n.*860T>A) c.863T>A (p.Leu288Ter) | |
3 | g.45476601T>C | CA352423952 | LARS2 | c.992T>C (p.Leu331Ser) c.*860T>C (n.*860T>C) c.863T>C (p.Leu288Ser) | |
3 | g.45476601T>G | CA352423953 | LARS2 | c.992T>G (p.Leu331Trp) c.*860T>G (n.*860T>G) c.863T>G (p.Leu288Trp) | |
3 | g.45476602G>A | CA2349467 | LARS2 | c.993G>A (p.Leu331=) c.*861G>A (n.*861G>A) c.864G>A (p.Leu288=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476602G>C | CA352423955 | LARS2 | c.993G>C (p.Leu331Phe) c.*861G>C (n.*861G>C) c.864G>C (p.Leu288Phe) | |
3 | g.45476602G= | CA1361691411 | LARS2 | c.993G= (p.Leu331=) c.*861G= (n.*861G=) c.864G= (p.Leu288=) | |
3 | g.45476602G>T | CA352423957 | LARS2 | c.993G>T (p.Leu331Phe) c.*861G>T (n.*861G>T) c.864G>T (p.Leu288Phe) | dbSNP |
3 | g.45476604_45476606del | CA2665386322 | LARS2 | c.995_997del (p.Arg332del) c.*863_*865del (n.*863_*865del) c.866_868del (p.Arg289del) | gnomAD v4 |
3 | g.45476603A= | CA1361691412 | LARS2 | c.994A= (p.Arg332=) c.*862A= (n.*862A=) c.865A= (p.Arg289=) | |
3 | g.45476603A>C | CA433433080 | LARS2 | c.994A>C (p.Arg332=) c.*862A>C (n.*862A>C) c.865A>C (p.Arg289=) | |
3 | g.45476603A>G | CA352423959 | LARS2 | c.994A>G (p.Arg332Gly) c.*862A>G (n.*862A>G) c.865A>G (p.Arg289Gly) | |
3 | g.45476603A>T | CA352423960 | LARS2 | c.994A>T (p.Arg332Trp) c.*862A>T (n.*862A>T) c.865A>T (p.Arg289Trp) | |
3 | g.45476604G>A | CA352423965 | LARS2 | c.995G>A (p.Arg332Lys) c.*863G>A (n.*863G>A) c.866G>A (p.Arg289Lys) | |
3 | g.45476604G>C | CA352423961 | LARS2 | c.995G>C (p.Arg332Thr) c.*863G>C (n.*863G>C) c.866G>C (p.Arg289Thr) | |
3 | g.45476604G>T | CA352423963 | LARS2 | c.995G>T (p.Arg332Met) c.*863G>T (n.*863G>T) c.866G>T (p.Arg289Met) | |
3 | g.45476606_45476609dup | CA1361691413 | LARS2 | c.997_1000dup (p.Ala334AspfsTer?) c.*865_*868dup (n.*865_*868dup) c.868_871dup (p.Ala291AspfsTer?) | dbSNP |
3 | g.45476605G>A | CA433433081 | LARS2 | c.996G>A (p.Arg332=) c.*864G>A (n.*864G>A) c.867G>A (p.Arg289=) | |
3 | g.45476605G>C | CA352423966 | LARS2 | c.996G>C (p.Arg332Ser) c.*864G>C (n.*864G>C) c.867G>C (p.Arg289Ser) | |
3 | g.45476605G>T | CA352423968 | LARS2 | c.996G>T (p.Arg332Ser) c.*864G>T (n.*864G>T) c.867G>T (p.Arg289Ser) | COSMIC |
3 | g.45476606A= | CA1361691414 | LARS2 | c.997A= (p.Met333=) c.*865A= (n.*865A=) c.868A= (p.Met290=) | |
3 | g.45476606A>C | CA352423969 | LARS2 | c.997A>C (p.Met333Leu) c.*865A>C (n.*865A>C) c.868A>C (p.Met290Leu) | |
3 | g.45476606A>G | CA2349468 | LARS2 | c.997A>G (p.Met333Val) c.*865A>G (n.*865A>G) c.868A>G (p.Met290Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476606A>T | CA352423970 | LARS2 | c.997A>T (p.Met333Leu) c.*865A>T (n.*865A>T) c.868A>T (p.Met290Leu) | |
3 | g.45476607T>A | CA352423971 | LARS2 | c.998T>A (p.Met333Lys) c.*866T>A (n.*866T>A) c.869T>A (p.Met290Lys) | |
3 | g.45476607T>C | CA352423973 | LARS2 | c.998T>C (p.Met333Thr) c.*866T>C (n.*866T>C) c.869T>C (p.Met290Thr) | |
3 | g.45476607T>G | CA352423975 | LARS2 | c.998T>G (p.Met333Arg) c.*866T>G (n.*866T>G) c.869T>G (p.Met290Arg) | |
3 | g.45476608G>A | CA352423977 | LARS2 | c.999G>A (p.Met333Ile) c.*867G>A (n.*867G>A) c.870G>A (p.Met290Ile) | |
3 | g.45476608G>C | CA352423978 | LARS2 | c.999G>C (p.Met333Ile) c.*867G>C (n.*867G>C) c.870G>C (p.Met290Ile) | gnomAD v4 |
3 | g.45476608G>T | CA352423979 | LARS2 | c.999G>T (p.Met333Ile) c.*867G>T (n.*867G>T) c.870G>T (p.Met290Ile) | |
3 | g.45476609G>A | CA352423985 | LARS2 | c.1000G>A (p.Ala334Thr) c.*868G>A (n.*868G>A) c.871G>A (p.Ala291Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476609G>C | CA352423983 | LARS2 | c.1000G>C (p.Ala334Pro) c.*868G>C (n.*868G>C) c.871G>C (p.Ala291Pro) | |
3 | g.45476609G= | CA1361691415 | LARS2 | c.1000G= (p.Ala334=) c.*868G= (n.*868G=) c.871G= (p.Ala291=) | |
3 | g.45476609G>T | CA352423981 | LARS2 | c.1000G>T (p.Ala334Ser) c.*868G>T (n.*868G>T) c.871G>T (p.Ala291Ser) | |
3 | g.45476610C>A | CA352423986 | LARS2 | c.1001C>A (p.Ala334Asp) c.*869C>A (n.*869C>A) c.872C>A (p.Ala291Asp) | |
3 | g.45476610C>G | CA352423989 | LARS2 | c.1001C>G (p.Ala334Gly) c.*869C>G (n.*869C>G) c.872C>G (p.Ala291Gly) | |
3 | g.45476610C>T | CA352423987 | LARS2 | c.1001C>T (p.Ala334Val) c.*869C>T (n.*869C>T) c.872C>T (p.Ala291Val) | |
3 | g.45476611C>A | CA433433082 | LARS2 | c.1002C>A (p.Ala334=) c.*870C>A (n.*870C>A) c.873C>A (p.Ala291=) | |
3 | g.45476611C= | CA1361691416 | LARS2 | c.1002C= (p.Ala334=) c.*870C= (n.*870C=) c.873C= (p.Ala291=) | |
3 | g.45476611C>G | CA433433083 | LARS2 | c.1002C>G (p.Ala334=) c.*870C>G (n.*870C>G) c.873C>G (p.Ala291=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45476611C>T | CA433433084 | LARS2 | c.1002C>T (p.Ala334=) c.*870C>T (n.*870C>T) c.873C>T (p.Ala291=) | gnomAD v4 COSMIC |
3 | g.45476612C>A | CA352423991 | LARS2 | c.1003C>A (p.Leu335Ile) c.*871C>A (n.*871C>A) c.874C>A (p.Leu292Ile) | COSMIC |
3 | g.45476612C>G | CA352423994 | LARS2 | c.1003C>G (p.Leu335Val) c.*871C>G (n.*871C>G) c.874C>G (p.Leu292Val) | |
3 | g.45476612C>T | CA352423993 | LARS2 | c.1003C>T (p.Leu335Phe) c.*871C>T (n.*871C>T) c.874C>T (p.Leu292Phe) | |
3 | g.45476613T>A | CA352423996 | LARS2 | c.1004T>A (p.Leu335His) c.*872T>A (n.*872T>A) c.875T>A (p.Leu292His) | |
3 | g.45476613T>C | CA352424000 | LARS2 | c.1004T>C (p.Leu335Pro) c.*872T>C (n.*872T>C) c.875T>C (p.Leu292Pro) | |
3 | g.45476613T>G | CA352423998 | LARS2 | c.1004T>G (p.Leu335Arg) c.*872T>G (n.*872T>G) c.875T>G (p.Leu292Arg) | |
3 | g.45476614del | CA2665386323 | LARS2 | c.1005del (p.Val336SerfsTer10) c.*873del (n.*873del) c.876del (p.Val293SerfsTer10) | gnomAD v4 |
3 | g.45476614T>A | CA433433085 | LARS2 | c.1005T>A (p.Leu335=) c.*873T>A (n.*873T>A) c.876T>A (p.Leu292=) | |
3 | g.45476614T>C | CA433433086 | LARS2 | c.1005T>C (p.Leu335=) c.*873T>C (n.*873T>C) c.876T>C (p.Leu292=) | |
3 | g.45476614T>G | CA433433087 | LARS2 | c.1005T>G (p.Leu335=) c.*873T>G (n.*873T>G) c.876T>G (p.Leu292=) | |
3 | g.45476615G>A | CA352424001 | LARS2 | c.1006G>A (p.Val336Ile) c.*874G>A (n.*874G>A) c.877G>A (p.Val293Ile) | |
3 | g.45476615G>C | CA352424002 | LARS2 | c.1006G>C (p.Val336Leu) c.*874G>C (n.*874G>C) c.877G>C (p.Val293Leu) | |
3 | g.45476615G>T | CA352424004 | LARS2 | c.1006G>T (p.Val336Phe) c.*874G>T (n.*874G>T) c.877G>T (p.Val293Phe) | |
3 | g.45476616T>A | CA352424006 | LARS2 | c.1007T>A (p.Val336Asp) c.*875T>A (n.*875T>A) c.878T>A (p.Val293Asp) | |
3 | g.45476616T>C | CA2349469 | LARS2 | c.1007T>C (p.Val336Ala) c.*875T>C (n.*875T>C) c.878T>C (p.Val293Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476616T>G | CA352424008 | LARS2 | c.1007T>G (p.Val336Gly) c.*875T>G (n.*875T>G) c.878T>G (p.Val293Gly) | |
3 | g.45476616T= | CA1361691417 | LARS2 | c.1007T= (p.Val336=) c.*875T= (n.*875T=) c.878T= (p.Val293=) | |
3 | g.45476617C>A | CA433433088 | LARS2 | c.1008C>A (p.Val336=) c.*876C>A (n.*876C>A) c.879C>A (p.Val293=) | |
3 | g.45476617C= | CA1361691418 | LARS2 | c.1008C= (p.Val336=) c.*876C= (n.*876C=) c.879C= (p.Val293=) | |
3 | g.45476617C>G | CA2349471 | LARS2 | c.1008C>G (p.Val336=) c.*876C>G (n.*876C>G) c.879C>G (p.Val293=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476617C>T | CA2349470 | LARS2 | c.1008C>T (p.Val336=) c.*876C>T (n.*876C>T) c.879C>T (p.Val293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476618C>A | CA352424012 | LARS2 | c.1009C>A (p.Pro337Thr) c.*877C>A (n.*877C>A) c.880C>A (p.Pro294Thr) | gnomAD v4 |
3 | g.45476618C= | CA1361691419 | LARS2 | c.1009C= (p.Pro337=) c.*877C= (n.*877C=) c.880C= (p.Pro294=) | |
3 | g.45476618C>G | CA352424013 | LARS2 | c.1009C>G (p.Pro337Ala) c.*877C>G (n.*877C>G) c.880C>G (p.Pro294Ala) | gnomAD v4 |
3 | g.45476618C>T | CA352424014 | LARS2 | c.1009C>T (p.Pro337Ser) c.*877C>T (n.*877C>T) c.880C>T (p.Pro294Ser) | dbSNP gnomAD v4 |
3 | g.45476619C>A | CA352424019 | LARS2 | c.1010C>A (p.Pro337His) c.*878C>A (n.*878C>A) c.881C>A (p.Pro294His) | |
3 | g.45476619C>G | CA352424017 | LARS2 | c.1010C>G (p.Pro337Arg) c.*878C>G (n.*878C>G) c.881C>G (p.Pro294Arg) | |
3 | g.45476619C>T | CA352424016 | LARS2 | c.1010C>T (p.Pro337Leu) c.*878C>T (n.*878C>T) c.881C>T (p.Pro294Leu) | |
3 | g.45476620T>A | CA433433089 | LARS2 | c.1011T>A (p.Pro337=) c.*879T>A (n.*879T>A) c.882T>A (p.Pro294=) | |
3 | g.45476620T>C | CA433433090 | LARS2 | c.1011T>C (p.Pro337=) c.*879T>C (n.*879T>C) c.882T>C (p.Pro294=) | |
3 | g.45476620T>G | CA433433091 | LARS2 | c.1011T>G (p.Pro337=) c.*879T>G (n.*879T>G) c.882T>G (p.Pro294=) | |
3 | g.45476621G>A | CA352424021 | LARS2 | c.1012G>A (p.Gly338Ser) c.*880G>A (n.*880G>A) c.883G>A (p.Gly295Ser) | |
3 | g.45476621G>C | CA352424023 | LARS2 | c.1012G>C (p.Gly338Arg) c.*880G>C (n.*880G>C) c.883G>C (p.Gly295Arg) | |
3 | g.45476621G>T | CA352424024 | LARS2 | c.1012G>T (p.Gly338Cys) c.*880G>T (n.*880G>T) c.883G>T (p.Gly295Cys) | |
3 | g.45476622G>A | CA352424025 | LARS2 | c.1013G>A (p.Gly338Asp) c.*881G>A (n.*881G>A) c.884G>A (p.Gly295Asp) | COSMIC |
3 | g.45476622G>C | CA352424026 | LARS2 | c.1013G>C (p.Gly338Ala) c.*881G>C (n.*881G>C) c.884G>C (p.Gly295Ala) | |
3 | g.45476622G>T | CA352424027 | LARS2 | c.1013G>T (p.Gly338Val) c.*881G>T (n.*881G>T) c.884G>T (p.Gly295Val) | |
3 | g.45476623C>A | CA433433092 | LARS2 | c.1014C>A (p.Gly338=) c.*882C>A (n.*882C>A) c.885C>A (p.Gly295=) | |
3 | g.45476623C>G | CA433433094 | LARS2 | c.1014C>G (p.Gly338=) c.*882C>G (n.*882C>G) c.885C>G (p.Gly295=) | |
3 | g.45476623C>T | CA433433093 | LARS2 | c.1014C>T (p.Gly338=) c.*882C>T (n.*882C>T) c.885C>T (p.Gly295=) | |
3 | g.45476624A>C | CA352424029 | LARS2 | c.1015A>C (p.Lys339Gln) c.*883A>C (n.*883A>C) c.886A>C (p.Lys296Gln) | |
3 | g.45476624A>G | CA352424031 | LARS2 | c.1015A>G (p.Lys339Glu) c.*883A>G (n.*883A>G) c.886A>G (p.Lys296Glu) | |
3 | g.45476624A>T | CA352424032 | LARS2 | c.1015A>T (p.Lys339Ter) c.*883A>T (n.*883A>T) c.886A>T (p.Lys296Ter) | |
3 | g.45476625A>C | CA352424033 | LARS2 | c.1016A>C (p.Lys339Thr) c.*884A>C (n.*884A>C) c.887A>C (p.Lys296Thr) | |
3 | g.45476625A>G | CA352424034 | LARS2 | c.1016A>G (p.Lys339Arg) c.*884A>G (n.*884A>G) c.887A>G (p.Lys296Arg) | |
3 | g.45476625A>T | CA352424035 | LARS2 | c.1016A>T (p.Lys339Ile) c.*884A>T (n.*884A>T) c.887A>T (p.Lys296Ile) | |
3 | g.45476626A= | CA1361691420 | LARS2 | c.1017A= (p.Lys339=) c.*885A= (n.*885A=) c.888A= (p.Lys296=) | |
3 | g.45476626A>C | CA352424037 | LARS2 | c.1017A>C (p.Lys339Asn) c.*885A>C (n.*885A>C) c.888A>C (p.Lys296Asn) | |
3 | g.45476626A>G | CA73581526 | LARS2 | c.1017A>G (p.Lys339=) c.*885A>G (n.*885A>G) c.888A>G (p.Lys296=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.45476626A>T | CA352424038 | LARS2 | c.1017A>T (p.Lys339Asn) c.*885A>T (n.*885A>T) c.888A>T (p.Lys296Asn) | |
3 | g.45476627G>A | CA352424040 | LARS2 | c.1018G>A (p.Asp340Asn) c.*886G>A (n.*886G>A) c.889G>A (p.Asp297Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476627G>C | CA352424042 | LARS2 | c.1018G>C (p.Asp340His) c.*886G>C (n.*886G>C) c.889G>C (p.Asp297His) | |
3 | g.45476627G= | CA1361691421 | LARS2 | c.1018G= (p.Asp340=) c.*886G= (n.*886G=) c.889G= (p.Asp297=) | |
3 | g.45476627G>T | CA352424043 | LARS2 | c.1018G>T (p.Asp340Tyr) c.*886G>T (n.*886G>T) c.889G>T (p.Asp297Tyr) | |
3 | g.45476628G>A | CA352424045 | LARS2 | c.1018+1G>A (n.1018+1G>A) c.*886+1G>A (n.*886+1G>A) c.889+1G>A (n.889+1G>A) | |
3 | g.45476628G>C | CA352424047 | LARS2 | c.1018+1G>C (n.1018+1G>C) c.*886+1G>C (n.*886+1G>C) c.889+1G>C (n.889+1G>C) | |
3 | g.45476628G= | CA1361691422 | LARS2 | c.1018+1G= (n.1018+1G=) c.*886+1G= (n.*886+1G=) c.889+1G= (n.889+1G=) | |
3 | g.45476628G>T | CA352424049 | LARS2 | c.1018+1G>T (n.1018+1G>T) c.*886+1G>T (n.*886+1G>T) c.889+1G>T (n.889+1G>T) | dbSNP |
3 | g.45476629T>A | CA352424050 | LARS2 | c.1018+2T>A (n.1018+2T>A) c.*886+2T>A (n.*886+2T>A) c.889+2T>A (n.889+2T>A) | gnomAD v4 |
3 | g.45476629T>C | CA352424051 | LARS2 | c.1018+2T>C (n.1018+2T>C) c.*886+2T>C (n.*886+2T>C) c.889+2T>C (n.889+2T>C) | |
3 | g.45476629T>G | CA352424053 | LARS2 | c.1018+2T>G (n.1018+2T>G) c.*886+2T>G (n.*886+2T>G) c.889+2T>G (n.889+2T>G) | |
3 | g.45476630G>C | CA2756074112 | LARS2 | c.1018+3G>C (n.1018+3G>C) c.*886+3G>C (n.*886+3G>C) c.889+3G>C (n.889+3G>C) | |
3 | g.45476631A>C | CA2756074113 | LARS2 | c.1018+4A>C (n.1018+4A>C) c.*886+4A>C (n.*886+4A>C) c.889+4A>C (n.889+4A>C) | |
3 | g.45476632G= | CA1361691423 | LARS2 | c.1018+5G= (n.1018+5G=) c.*886+5G= (n.*886+5G=) c.889+5G= (n.889+5G=) | |
3 | g.45476632G>T | CA2349472 | LARS2 | c.1018+5G>T (n.1018+5G>T) c.*886+5G>T (n.*886+5G>T) c.889+5G>T (n.889+5G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476633C>T | CA2665386324 | LARS2 | c.1018+6C>T (n.1018+6C>T) c.*886+6C>T (n.*886+6C>T) c.889+6C>T (n.889+6C>T) | gnomAD v4 |
3 | g.45476636G= | CA1361691424 | LARS2 | c.1018+9G= (n.1018+9G=) c.*886+9G= (n.*886+9G=) c.889+9G= (n.889+9G=) | |
3 | g.45476636G>T | CA2349473 | LARS2 | c.1018+9G>T (n.1018+9G>T) c.*886+9G>T (n.*886+9G>T) c.889+9G>T (n.889+9G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476638A= | CA1361691425 | LARS2 | c.1018+11A= (n.1018+11A=) c.*886+11A= (n.*886+11A=) c.889+11A= (n.889+11A=) | |
3 | g.45476638A>C | CA543040664 | LARS2 | c.1018+11A>C (n.1018+11A>C) c.*886+11A>C (n.*886+11A>C) c.889+11A>C (n.889+11A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45476639A>T | CA2697550847 | LARS2 | c.1018+12A>T (n.1018+12A>T) c.*886+12A>T (n.*886+12A>T) c.889+12A>T (n.889+12A>T) | ClinVar |
3 | g.45476641T>C | CA2739278783 | LARS2 | c.1018+14T>C (n.1018+14T>C) c.*886+14T>C (n.*886+14T>C) c.889+14T>C (n.889+14T>C) | ClinVar |
3 | g.45476642T>A | CA907481534 | LARS2 | c.1018+15T>A (n.1018+15T>A) c.*886+15T>A (n.*886+15T>A) c.889+15T>A (n.889+15T>A) | dbSNP |
3 | g.45476642T>G | CA2577571006 | LARS2 | c.1018+15T>G (n.1018+15T>G) c.*886+15T>G (n.*886+15T>G) c.889+15T>G (n.889+15T>G) | |
3 | g.45476642T= | CA1361691426 | LARS2 | c.1018+15T= (n.1018+15T=) c.*886+15T= (n.*886+15T=) c.889+15T= (n.889+15T=) | |
3 | g.45476644dup | CA2349474 | LARS2 | c.1018+17dup (n.1018+17dup) c.*886+17dup (n.*886+17dup) c.889+17dup (n.889+17dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476645C>A | CA2739278784 | LARS2 | c.1018+18C>A (n.1018+18C>A) c.*886+18C>A (n.*886+18C>A) c.889+18C>A (n.889+18C>A) | ClinVar |
3 | g.45476645C= | CA1361691427 | LARS2 | c.1018+18C= (n.1018+18C=) c.*886+18C= (n.*886+18C=) c.889+18C= (n.889+18C=) | |
3 | g.45476645C>T | CA2349475 | LARS2 | c.1018+18C>T (n.1018+18C>T) c.*886+18C>T (n.*886+18C>T) c.889+18C>T (n.889+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476646G>A | CA2349476 | LARS2 | c.1018+19G>A (n.1018+19G>A) c.*886+19G>A (n.*886+19G>A) c.889+19G>A (n.889+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476646G= | CA1361691428 | LARS2 | c.1018+19G= (n.1018+19G=) c.*886+19G= (n.*886+19G=) c.889+19G= (n.889+19G=) | |
3 | g.45476646G>T | CA1361691429 | LARS2 | c.1018+19G>T (n.1018+19G>T) c.*886+19G>T (n.*886+19G>T) c.889+19G>T (n.889+19G>T) | dbSNP |
3 | g.45476647G>A | CA2665386325 | LARS2 | c.1018+20G>A (n.1018+20G>A) c.*886+20G>A (n.*886+20G>A) c.889+20G>A (n.889+20G>A) | gnomAD v4 |
3 | g.45476648C= | CA1361691430 | LARS2 | c.1018+21C= (n.1018+21C=) c.*886+21C= (n.*886+21C=) c.889+21C= (n.889+21C=) | |
3 | g.45476648C>T | CA907481544 | LARS2 | c.1018+21C>T (n.1018+21C>T) c.*886+21C>T (n.*886+21C>T) c.889+21C>T (n.889+21C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45476649_45476650delinsTC | CA1361691431 | LARS2 | c.1018+22_1018+23delinsTC (n.1018+22_1018+23delinsTC) c.*886+22_*886+23delinsTC (n.*886+22_*886+23delinsTC) c.889+22_889+23delinsTC (n.889+22_889+23delinsTC) | |
3 | g.45476650del | CA543040665 | LARS2 | c.1018+23del (n.1018+23del) c.*886+23del (n.*886+23del) c.889+23del (n.889+23del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476650C>T | CA2665386326 | LARS2 | c.1018+23C>T (n.1018+23C>T) c.*886+23C>T (n.*886+23C>T) c.889+23C>T (n.889+23C>T) | gnomAD v4 |
3 | g.45476652G>A | CA2349477 | LARS2 | c.1018+25G>A (n.1018+25G>A) c.*886+25G>A (n.*886+25G>A) c.889+25G>A (n.889+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476652G= | CA1361691432 | LARS2 | c.1018+25G= (n.1018+25G=) c.*886+25G= (n.*886+25G=) c.889+25G= (n.889+25G=) | |
3 | g.45476656G= | CA1361691433 | LARS2 | c.1018+29G= (n.1018+29G=) c.*886+29G= (n.*886+29G=) c.889+29G= (n.889+29G=) | |
3 | g.45476657_45476658insTACATT | CA1361691434 | LARS2 | c.1018+30_1018+31insTACATT (n.1018+30_1018+31insTACATT) c.*886+30_*886+31insTACATT (n.*886+30_*886+31insTACATT) c.889+30_889+31insTACATT (n.889+30_889+31insTACATT) | dbSNP |
3 | g.45476658A= | CA1361691435 | LARS2 | c.1018+31A= (n.1018+31A=) c.*886+31A= (n.*886+31A=) c.889+31A= (n.889+31A=) | |
3 | g.45476658A>C | CA2665386327 | LARS2 | c.1018+31A>C (n.1018+31A>C) c.*886+31A>C (n.*886+31A>C) c.889+31A>C (n.889+31A>C) | gnomAD v4 |
3 | g.45476658A>T | CA1361691436 | LARS2 | c.1018+31A>T (n.1018+31A>T) c.*886+31A>T (n.*886+31A>T) c.889+31A>T (n.889+31A>T) | dbSNP |
3 | g.45476661_45476662delinsAT | CA1361691437 | LARS2 | c.1018+34_1018+35delinsAT (n.1018+34_1018+35delinsAT) c.*886+34_*886+35delinsAT (n.*886+34_*886+35delinsAT) c.889+34_889+35delinsAT (n.889+34_889+35delinsAT) | |
3 | g.45476662T>A | CA2513828386 | LARS2 | c.1018+35T>A (n.1018+35T>A) c.*886+35T>A (n.*886+35T>A) c.889+35T>A (n.889+35T>A) | |
3 | g.45476662T>C | CA73581558 | LARS2 | c.1018+35T>C (n.1018+35T>C) c.*886+35T>C (n.*886+35T>C) c.889+35T>C (n.889+35T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476662T= | CA1361691438 | LARS2 | c.1018+35T= (n.1018+35T=) c.*886+35T= (n.*886+35T=) c.889+35T= (n.889+35T=) | |
3 | g.45476663del | CA1361691439 | LARS2 | c.1018+36del (n.1018+36del) c.*886+36del (n.*886+36del) c.889+36del (n.889+36del) | dbSNP |
3 | g.45476664G>C | CA2349478 | LARS2 | c.1018+37G>C (n.1018+37G>C) c.*886+37G>C (n.*886+37G>C) c.889+37G>C (n.889+37G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476664G= | CA1361691440 | LARS2 | c.1018+37G= (n.1018+37G=) c.*886+37G= (n.*886+37G=) c.889+37G= (n.889+37G=) | |
3 | g.45476665C= | CA1361691441 | LARS2 | c.1018+38C= (n.1018+38C=) c.*886+38C= (n.*886+38C=) c.889+38C= (n.889+38C=) | |
3 | g.45476665C>T | CA2349479 | LARS2 | c.1018+38C>T (n.1018+38C>T) c.*886+38C>T (n.*886+38C>T) c.889+38C>T (n.889+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476666T>A | CA1361691443 | LARS2 | c.1018+39T>A (n.1018+39T>A) c.*886+39T>A (n.*886+39T>A) c.889+39T>A (n.889+39T>A) | dbSNP |
3 | g.45476666T>C | CA2349480 | LARS2 | c.1018+39T>C (n.1018+39T>C) c.*886+39T>C (n.*886+39T>C) c.889+39T>C (n.889+39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476666T= | CA1361691442 | LARS2 | c.1018+39T= (n.1018+39T=) c.*886+39T= (n.*886+39T=) c.889+39T= (n.889+39T=) | |
3 | g.45476666_45476667insTG | CA2756074114 | LARS2 | c.1018+39_1018+40insTG (n.1018+39_1018+40insTG) c.*886+39_*886+40insTG (n.*886+39_*886+40insTG) c.889+39_889+40insTG (n.889+39_889+40insTG) | |
3 | g.45476667A= | CA1361691445 | LARS2 | c.1018+40A= (n.1018+40A=) c.*886+40A= (n.*886+40A=) c.889+40A= (n.889+40A=) | |
3 | g.45476667A>C | CA2349481 | LARS2 | c.1018+40A>C (n.1018+40A>C) c.*886+40A>C (n.*886+40A>C) c.889+40A>C (n.889+40A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476667A>G | CA1047458974 | LARS2 | c.1018+40A>G (n.1018+40A>G) c.*886+40A>G (n.*886+40A>G) c.889+40A>G (n.889+40A>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45476667_45476669dup | CA1361691444 | LARS2 | c.1018+40_1018+42dup (n.1018+40_1018+42dup) c.*886+40_*886+42dup (n.*886+40_*886+42dup) c.889+40_889+42dup (n.889+40_889+42dup) | dbSNP |
3 | g.45476669C>A | CA2665386328 | LARS2 | c.1018+42C>A (n.1018+42C>A) c.*886+42C>A (n.*886+42C>A) c.889+42C>A (n.889+42C>A) | gnomAD v4 |
3 | g.45476669C= | CA1361691446 | LARS2 | c.1018+42C= (n.1018+42C=) c.*886+42C= (n.*886+42C=) c.889+42C= (n.889+42C=) | |
3 | g.45476669C>T | CA2349482 | LARS2 | c.1018+42C>T (n.1018+42C>T) c.*886+42C>T (n.*886+42C>T) c.889+42C>T (n.889+42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476671T>C | CA543040666 | LARS2 | c.1018+44T>C (n.1018+44T>C) c.*886+44T>C (n.*886+44T>C) c.889+44T>C (n.889+44T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45476671T= | CA1361691447 | LARS2 | c.1018+44T= (n.1018+44T=) c.*886+44T= (n.*886+44T=) c.889+44T= (n.889+44T=) | |
3 | g.45476672A= | CA1361691448 | LARS2 | c.1018+45A= (n.1018+45A=) c.*886+45A= (n.*886+45A=) c.889+45A= (n.889+45A=) | |
3 | g.45476672A>G | CA2665386329 | LARS2 | c.1018+45A>G (n.1018+45A>G) c.*886+45A>G (n.*886+45A>G) c.889+45A>G (n.889+45A>G) | gnomAD v4 |
3 | g.45476672A>T | CA73581583 | LARS2 | c.1018+45A>T (n.1018+45A>T) c.*886+45A>T (n.*886+45A>T) c.889+45A>T (n.889+45A>T) | dbSNP gnomAD v4 |
3 | g.45476675T>C | CA2349483 | LARS2 | c.1018+48T>C (n.1018+48T>C) c.*886+48T>C (n.*886+48T>C) c.889+48T>C (n.889+48T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45476675T= | CA1361691449 | LARS2 | c.1018+48T= (n.1018+48T=) c.*886+48T= (n.*886+48T=) c.889+48T= (n.889+48T=) | |
3 | g.45476676T>G | CA2665386330 | LARS2 | c.1018+49T>G (n.1018+49T>G) c.*886+49T>G (n.*886+49T>G) c.889+49T>G (n.889+49T>G) | gnomAD v4 |
3 | g.45476678G>A | CA2665386331 | LARS2 | c.1018+51G>A (n.1018+51G>A) c.*886+51G>A (n.*886+51G>A) c.889+51G>A (n.889+51G>A) | gnomAD v4 |
3 | g.45476678G= | CA1361691450 | LARS2 | c.1018+51G= (n.1018+51G=) c.*886+51G= (n.*886+51G=) c.889+51G= (n.889+51G=) | |
3 | g.45476678G>T | CA2349484 | LARS2 | c.1018+51G>T (n.1018+51G>T) c.*886+51G>T (n.*886+51G>T) c.889+51G>T (n.889+51G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45476680A= | CA1361691451 | LARS2 | c.1018+53A= (n.1018+53A=) c.*886+53A= (n.*886+53A=) c.889+53A= (n.889+53A=) | |
3 | g.45476680A>G | CA1361691452 | LARS2 | c.1018+53A>G (n.1018+53A>G) c.*886+53A>G (n.*886+53A>G) c.889+53A>G (n.889+53A>G) | dbSNP gnomAD v4 |