UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40298279A>C | CA384414137 | LRRK2 | c.3133A>C (p.Asn1045His) c.*2042A>C (n.*2042A>C) c.2878A>C (p.Asn960His) c.177A>C c.1930A>C (p.Asn644His) c.49A>C (p.Asn17His) n.3375A>C | |
| 12 | g.40298279A>G | CA384414139 | LRRK2 | c.3133A>G (p.Asn1045Asp) c.*2042A>G (n.*2042A>G) c.2878A>G (p.Asn960Asp) c.177A>G c.1930A>G (p.Asn644Asp) c.49A>G (p.Asn17Asp) n.3375A>G | gnomAD v4 |
| 12 | g.40298279A>T | CA384414141 | LRRK2 | c.3133A>T (p.Asn1045Tyr) c.*2042A>T (n.*2042A>T) c.2878A>T (p.Asn960Tyr) c.177A>T c.1930A>T (p.Asn644Tyr) c.49A>T (p.Asn17Tyr) n.3375A>T | |
| 12 | g.40298280A>C | CA384414143 | LRRK2 | c.3134A>C (p.Asn1045Thr) c.*2043A>C (n.*2043A>C) c.2879A>C (p.Asn960Thr) c.178A>C c.1931A>C (p.Asn644Thr) c.50A>C (p.Asn17Thr) n.3376A>C | |
| 12 | g.40298280A>G | CA384414147 | LRRK2 | c.3134A>G (p.Asn1045Ser) c.*2043A>G (n.*2043A>G) c.2879A>G (p.Asn960Ser) c.178A>G c.1931A>G (p.Asn644Ser) c.50A>G (p.Asn17Ser) n.3376A>G | |
| 12 | g.40298280A>T | CA384414145 | LRRK2 | c.3134A>T (p.Asn1045Ile) c.*2043A>T (n.*2043A>T) c.2879A>T (p.Asn960Ile) c.178A>T c.1931A>T (p.Asn644Ile) c.50A>T (p.Asn17Ile) n.3376A>T | |
| 12 | g.40298281T>A | CA384414149 | LRRK2 | c.3135T>A (p.Asn1045Lys) c.*2044T>A (n.*2044T>A) c.2880T>A (p.Asn960Lys) c.179T>A c.1932T>A (p.Asn644Lys) c.51T>A (p.Asn17Lys) n.3377T>A | |
| 12 | g.40298281T>C | CA479391119 | LRRK2 | c.3135T>C (p.Asn1045=) c.*2044T>C (n.*2044T>C) c.2880T>C (p.Asn960=) c.179T>C c.1932T>C (p.Asn644=) c.51T>C (p.Asn17=) n.3377T>C | |
| 12 | g.40298281T>G | CA384414152 | LRRK2 | c.3135T>G (p.Asn1045Lys) c.*2044T>G (n.*2044T>G) c.2880T>G (p.Asn960Lys) c.179T>G c.1932T>G (p.Asn644Lys) c.51T>G (p.Asn17Lys) n.3377T>G | |
| 12 | g.40298281_40298282delinsTA | CA2030982777 | LRRK2 | c.3135_3136delinsTA (p.Asn1045=) c.*2044_*2045delinsTA (n.*2044_*2045delinsTA) c.2880_2881delinsTA (p.Asn960=) c.179_180delinsTA c.1932_1933delinsTA (p.Asn644=) c.51_52delinsTA (p.Asn17=) n.3377_3378delinsTA | |
| 12 | g.40298282A>C | CA384414154 | LRRK2 | c.3136A>C (p.Lys1046Gln) c.*2045A>C (n.*2045A>C) c.2881A>C (p.Lys961Gln) c.180A>C c.1933A>C (p.Lys645Gln) c.52A>C (p.Lys18Gln) n.3378A>C | |
| 12 | g.40298282A>G | CA384414156 | LRRK2 | c.3136A>G (p.Lys1046Glu) c.*2045A>G (n.*2045A>G) c.2881A>G (p.Lys961Glu) c.180A>G c.1933A>G (p.Lys645Glu) c.52A>G (p.Lys18Glu) n.3378A>G | |
| 12 | g.40298282A>T | CA384414158 | LRRK2 | c.3136A>T (p.Lys1046Ter) c.*2045A>T (n.*2045A>T) c.2881A>T (p.Lys961Ter) c.180A>T c.1933A>T (p.Lys645Ter) c.52A>T (p.Lys18Ter) n.3378A>T | |
| 12 | g.40298284del | CA604810345 | LRRK2 | c.3138del (p.Lys1046AsnfsTer10) c.*2047del (n.*2047del) c.2883del (p.Lys961AsnfsTer10) c.182del c.1935del (p.Lys645AsnfsTer10) c.54del (p.Lys18AsnfsTer10) n.3380del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40298283A= | CA2030982778 | LRRK2 | c.3137A= (p.Lys1046=) c.*2046A= (n.*2046A=) c.2882A= (p.Lys961=) c.181A= c.1934A= (p.Lys645=) c.53A= (p.Lys18=) n.3379A= | |
| 12 | g.40298283A>C | CA384414161 | LRRK2 | c.3137A>C (p.Lys1046Thr) c.*2046A>C (n.*2046A>C) c.2882A>C (p.Lys961Thr) c.181A>C c.1934A>C (p.Lys645Thr) c.53A>C (p.Lys18Thr) n.3379A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.40298283A>G | CA384414164 | LRRK2 | c.3137A>G (p.Lys1046Arg) c.*2046A>G (n.*2046A>G) c.2882A>G (p.Lys961Arg) c.181A>G c.1934A>G (p.Lys645Arg) c.53A>G (p.Lys18Arg) n.3379A>G | |
| 12 | g.40298283A>T | CA384414165 | LRRK2 | c.3137A>T (p.Lys1046Ile) c.*2046A>T (n.*2046A>T) c.2882A>T (p.Lys961Ile) c.181A>T c.1934A>T (p.Lys645Ile) c.53A>T (p.Lys18Ile) n.3379A>T | |
| 12 | g.40298284A>C | CA384414168 | LRRK2 | c.3138A>C (p.Lys1046Asn) c.*2047A>C (n.*2047A>C) c.2883A>C (p.Lys961Asn) c.182A>C c.1935A>C (p.Lys645Asn) c.54A>C (p.Lys18Asn) n.3380A>C | |
| 12 | g.40298284A>G | CA479391122 | LRRK2 | c.3138A>G (p.Lys1046=) c.*2047A>G (n.*2047A>G) c.2883A>G (p.Lys961=) c.182A>G c.1935A>G (p.Lys645=) c.54A>G (p.Lys18=) n.3380A>G | gnomAD v4 |
| 12 | g.40298284A>T | CA384414169 | LRRK2 | c.3138A>T (p.Lys1046Asn) c.*2047A>T (n.*2047A>T) c.2883A>T (p.Lys961Asn) c.182A>T c.1935A>T (p.Lys645Asn) c.54A>T (p.Lys18Asn) n.3380A>T | ClinVar gnomAD v4 |
| 12 | g.40298285T>A | CA384414175 | LRRK2 | c.3139T>A (p.Phe1047Ile) c.*2048T>A (n.*2048T>A) c.2884T>A (p.Phe962Ile) c.183T>A c.1936T>A (p.Phe646Ile) c.55T>A (p.Phe19Ile) n.3381T>A | |
| 12 | g.40298285T>C | CA384414173 | LRRK2 | c.3139T>C (p.Phe1047Leu) c.*2048T>C (n.*2048T>C) c.2884T>C (p.Phe962Leu) c.183T>C c.1936T>C (p.Phe646Leu) c.55T>C (p.Phe19Leu) n.3381T>C | |
| 12 | g.40298285T>G | CA384414172 | LRRK2 | c.3139T>G (p.Phe1047Val) c.*2048T>G (n.*2048T>G) c.2884T>G (p.Phe962Val) c.183T>G c.1936T>G (p.Phe646Val) c.55T>G (p.Phe19Val) n.3381T>G | dbSNP |
| 12 | g.40298285T= | CA2030982779 | LRRK2 | c.3139T= (p.Phe1047=) c.*2048T= (n.*2048T=) c.2884T= (p.Phe962=) c.183T= c.1936T= (p.Phe646=) c.55T= (p.Phe19=) n.3381T= | |
| 12 | g.40298286T>A | CA384414179 | LRRK2 | c.3140T>A (p.Phe1047Tyr) c.*2049T>A (n.*2049T>A) c.2885T>A (p.Phe962Tyr) c.184T>A c.1937T>A (p.Phe646Tyr) c.56T>A (p.Phe19Tyr) n.3382T>A | |
| 12 | g.40298286T>C | CA384414177 | LRRK2 | c.3140T>C (p.Phe1047Ser) c.*2049T>C (n.*2049T>C) c.2885T>C (p.Phe962Ser) c.184T>C c.1937T>C (p.Phe646Ser) c.56T>C (p.Phe19Ser) n.3382T>C | |
| 12 | g.40298286T>G | CA384414178 | LRRK2 | c.3140T>G (p.Phe1047Cys) c.*2049T>G (n.*2049T>G) c.2885T>G (p.Phe962Cys) c.184T>G c.1937T>G (p.Phe646Cys) c.56T>G (p.Phe19Cys) n.3382T>G | |
| 12 | g.40298287T>A | CA384414181 | LRRK2 | c.3141T>A (p.Phe1047Leu) c.*2050T>A (n.*2050T>A) c.2886T>A (p.Phe962Leu) c.185T>A c.1938T>A (p.Phe646Leu) c.57T>A (p.Phe19Leu) n.3383T>A | |
| 12 | g.40298287T>C | CA479391124 | LRRK2 | c.3141T>C (p.Phe1047=) c.*2050T>C (n.*2050T>C) c.2886T>C (p.Phe962=) c.185T>C c.1938T>C (p.Phe646=) c.57T>C (p.Phe19=) n.3383T>C | |
| 12 | g.40298287T>G | CA384414183 | LRRK2 | c.3141T>G (p.Phe1047Leu) c.*2050T>G (n.*2050T>G) c.2886T>G (p.Phe962Leu) c.185T>G c.1938T>G (p.Phe646Leu) c.57T>G (p.Phe19Leu) n.3383T>G | |
| 12 | g.40298288A>C | CA384414186 | LRRK2 | c.3142A>C (p.Thr1048Pro) c.*2051A>C (n.*2051A>C) c.2887A>C (p.Thr963Pro) c.186A>C c.1939A>C (p.Thr647Pro) c.58A>C (p.Thr20Pro) n.3384A>C | |
| 12 | g.40298288A>G | CA384414188 | LRRK2 | c.3142A>G (p.Thr1048Ala) c.*2051A>G (n.*2051A>G) c.2887A>G (p.Thr963Ala) c.186A>G c.1939A>G (p.Thr647Ala) c.58A>G (p.Thr20Ala) n.3384A>G | gnomAD v4 |
| 12 | g.40298288A>T | CA384414190 | LRRK2 | c.3142A>T (p.Thr1048Ser) c.*2051A>T (n.*2051A>T) c.2887A>T (p.Thr963Ser) c.186A>T c.1939A>T (p.Thr647Ser) c.58A>T (p.Thr20Ser) n.3384A>T | gnomAD v4 |
| 12 | g.40298289C>A | CA384414192 | LRRK2 | c.3143C>A (p.Thr1048Lys) c.*2052C>A (n.*2052C>A) c.2888C>A (p.Thr963Lys) c.187C>A c.1940C>A (p.Thr647Lys) c.59C>A (p.Thr20Lys) n.3385C>A | |
| 12 | g.40298289C>G | CA384414195 | LRRK2 | c.3143C>G (p.Thr1048Arg) c.*2052C>G (n.*2052C>G) c.2888C>G (p.Thr963Arg) c.187C>G c.1940C>G (p.Thr647Arg) c.59C>G (p.Thr20Arg) n.3385C>G | COSMIC COSMIC |
| 12 | g.40298289C>T | CA384414198 | LRRK2 | c.3143C>T (p.Thr1048Ile) c.*2052C>T (n.*2052C>T) c.2888C>T (p.Thr963Ile) c.187C>T c.1940C>T (p.Thr647Ile) c.59C>T (p.Thr20Ile) n.3385C>T | ClinVar gnomAD v4 |
| 12 | g.40298290A>C | CA479391128 | LRRK2 | c.3144A>C (p.Thr1048=) c.*2053A>C (n.*2053A>C) c.2889A>C (p.Thr963=) c.188A>C c.1941A>C (p.Thr647=) c.60A>C (p.Thr20=) n.3386A>C | |
| 12 | g.40298290A>G | CA479391129 | LRRK2 | c.3144A>G (p.Thr1048=) c.*2053A>G (n.*2053A>G) c.2889A>G (p.Thr963=) c.188A>G c.1941A>G (p.Thr647=) c.60A>G (p.Thr20=) n.3386A>G | |
| 12 | g.40298290A>T | CA479391130 | LRRK2 | c.3144A>T (p.Thr1048=) c.*2053A>T (n.*2053A>T) c.2889A>T (p.Thr963=) c.188A>T c.1941A>T (p.Thr647=) c.60A>T (p.Thr20=) n.3386A>T | |
| 12 | g.40298291T>A | CA384414200 | LRRK2 | c.3145T>A (p.Ser1049Thr) c.*2054T>A (n.*2054T>A) c.2890T>A (p.Ser964Thr) c.189T>A c.1942T>A (p.Ser648Thr) c.61T>A (p.Ser21Thr) n.3387T>A | |
| 12 | g.40298291T>C | CA384414202 | LRRK2 | c.3145T>C (p.Ser1049Pro) c.*2054T>C (n.*2054T>C) c.2890T>C (p.Ser964Pro) c.189T>C c.1942T>C (p.Ser648Pro) c.61T>C (p.Ser21Pro) n.3387T>C | |
| 12 | g.40298291T>G | CA384414204 | LRRK2 | c.3145T>G (p.Ser1049Ala) c.*2054T>G (n.*2054T>G) c.2890T>G (p.Ser964Ala) c.189T>G c.1942T>G (p.Ser648Ala) c.61T>G (p.Ser21Ala) n.3387T>G | |
| 12 | g.40298292C>A | CA384414211 | LRRK2 | c.3146C>A (p.Ser1049Ter) c.*2055C>A (n.*2055C>A) c.2891C>A (p.Ser964Ter) c.190C>A c.1943C>A (p.Ser648Ter) c.62C>A (p.Ser21Ter) n.3388C>A | COSMIC COSMIC |
| 12 | g.40298292C>G | CA384414207 | LRRK2 | c.3146C>G (p.Ser1049Ter) c.*2055C>G (n.*2055C>G) c.2891C>G (p.Ser964Ter) c.190C>G c.1943C>G (p.Ser648Ter) c.62C>G (p.Ser21Ter) n.3388C>G | |
| 12 | g.40298292C>T | CA384414209 | LRRK2 | c.3146C>T (p.Ser1049Leu) c.*2055C>T (n.*2055C>T) c.2891C>T (p.Ser964Leu) c.190C>T c.1943C>T (p.Ser648Leu) c.62C>T (p.Ser21Leu) n.3388C>T | gnomAD v4 |
| 12 | g.40298293A= | CA2030982780 | LRRK2 | c.3147A= (p.Ser1049=) c.*2056A= (n.*2056A=) c.2892A= (p.Ser964=) c.191A= c.1944A= (p.Ser648=) c.63A= (p.Ser21=) n.3389A= | |
| 12 | g.40298293A>C | CA479391131 | LRRK2 | c.3147A>C (p.Ser1049=) c.*2056A>C (n.*2056A>C) c.2892A>C (p.Ser964=) c.191A>C c.1944A>C (p.Ser648=) c.63A>C (p.Ser21=) n.3389A>C | |
| 12 | g.40298293A>G | CA479391132 | LRRK2 | c.3147A>G (p.Ser1049=) c.*2056A>G (n.*2056A>G) c.2892A>G (p.Ser964=) c.191A>G c.1944A>G (p.Ser648=) c.63A>G (p.Ser21=) n.3389A>G | ClinVar |
| 12 | g.40298293A>T | CA6513848 | LRRK2 | c.3147A>T (p.Ser1049=) c.*2056A>T (n.*2056A>T) c.2892A>T (p.Ser964=) c.191A>T c.1944A>T (p.Ser648=) c.63A>T (p.Ser21=) n.3389A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |