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.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 |
| 12 | g.40298294T>A | CA384414216 | LRRK2 | c.3148T>A (p.Phe1050Ile) c.*2057T>A (n.*2057T>A) c.2893T>A (p.Phe965Ile) c.192T>A c.1945T>A (p.Phe649Ile) c.64T>A (p.Phe22Ile) n.3390T>A | |
| 12 | g.40298294T>C | CA384414218 | LRRK2 | c.3148T>C (p.Phe1050Leu) c.*2057T>C (n.*2057T>C) c.2893T>C (p.Phe965Leu) c.192T>C c.1945T>C (p.Phe649Leu) c.64T>C (p.Phe22Leu) n.3390T>C | gnomAD v4 |
| 12 | g.40298294T>G | CA384414221 | LRRK2 | c.3148T>G (p.Phe1050Val) c.*2057T>G (n.*2057T>G) c.2893T>G (p.Phe965Val) c.192T>G c.1945T>G (p.Phe649Val) c.64T>G (p.Phe22Val) n.3390T>G | |
| 12 | g.40298295T>A | CA384414223 | LRRK2 | c.3149T>A (p.Phe1050Tyr) c.*2058T>A (n.*2058T>A) c.2894T>A (p.Phe965Tyr) c.193T>A c.1946T>A (p.Phe649Tyr) c.65T>A (p.Phe22Tyr) n.3391T>A | |
| 12 | g.40298295T>C | CA384414224 | LRRK2 | c.3149T>C (p.Phe1050Ser) c.*2058T>C (n.*2058T>C) c.2894T>C (p.Phe965Ser) c.193T>C c.1946T>C (p.Phe649Ser) c.65T>C (p.Phe22Ser) n.3391T>C | |
| 12 | g.40298295T>G | CA384414225 | LRRK2 | c.3149T>G (p.Phe1050Cys) c.*2058T>G (n.*2058T>G) c.2894T>G (p.Phe965Cys) c.193T>G c.1946T>G (p.Phe649Cys) c.65T>G (p.Phe22Cys) n.3391T>G | |
| 12 | g.40298296T>A | CA384414228 | LRRK2 | c.3150T>A (p.Phe1050Leu) c.*2059T>A (n.*2059T>A) c.2895T>A (p.Phe965Leu) c.194T>A c.1947T>A (p.Phe649Leu) c.66T>A (p.Phe22Leu) n.3392T>A | |
| 12 | g.40298296T>C | CA6513849 | LRRK2 | c.3150T>C (p.Phe1050=) c.*2059T>C (n.*2059T>C) c.2895T>C (p.Phe965=) c.194T>C c.1947T>C (p.Phe649=) c.66T>C (p.Phe22=) n.3392T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40298296T>G | CA384414238 | LRRK2 | c.3150T>G (p.Phe1050Leu) c.*2059T>G (n.*2059T>G) c.2895T>G (p.Phe965Leu) c.194T>G c.1947T>G (p.Phe649Leu) c.66T>G (p.Phe22Leu) n.3392T>G | |
| 12 | g.40298296T= | CA2030982781 | LRRK2 | c.3150T= (p.Phe1050=) c.*2059T= (n.*2059T=) c.2895T= (p.Phe965=) c.194T= c.1947T= (p.Phe649=) c.66T= (p.Phe22=) n.3392T= | |
| 12 | g.40298297C>A | CA384414241 | LRRK2 | c.3151C>A (p.Pro1051Thr) c.*2060C>A (n.*2060C>A) c.2896C>A (p.Pro966Thr) c.195C>A c.1948C>A (p.Pro650Thr) c.67C>A (p.Pro23Thr) n.3393C>A | |
| 12 | g.40298297C= | CA2030982783 | LRRK2 | c.3151C= (p.Pro1051=) c.*2060C= (n.*2060C=) c.2896C= (p.Pro966=) c.195C= c.1948C= (p.Pro650=) c.67C= (p.Pro23=) n.3393C= | |
| 12 | g.40298297C>G | CA384414244 | LRRK2 | c.3151C>G (p.Pro1051Ala) c.*2060C>G (n.*2060C>G) c.2896C>G (p.Pro966Ala) c.195C>G c.1948C>G (p.Pro650Ala) c.67C>G (p.Pro23Ala) n.3393C>G | |
| 12 | g.40298297C>T | CA235348670 | LRRK2 | c.3151C>T (p.Pro1051Ser) c.*2060C>T (n.*2060C>T) c.2896C>T (p.Pro966Ser) c.195C>T c.1948C>T (p.Pro650Ser) c.67C>T (p.Pro23Ser) n.3393C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40298298del | CA2618282095 | LRRK2 | c.3152del (p.Pro1051LeufsTer5) c.*2061del (n.*2061del) c.2897del (p.Pro966LeufsTer5) c.196del c.1949del (p.Pro650LeufsTer5) c.68del (p.Pro23LeufsTer5) n.3394del | gnomAD v4 |
| 12 | g.40298297_40298300delinsCCTT | CA2030982782 | LRRK2 | c.3151_3154delinsCCTT (p.Pro1051=) c.*2060_*2063delinsCCTT (n.*2060_*2063delinsCCTT) c.2896_2899delinsCCTT (p.Pro966=) c.195_198delinsCCTT c.1948_1951delinsCCTT (p.Pro650=) c.67_70delinsCCTT (p.Pro23=) n.3393_3396delinsCCTT | |
| 12 | g.40298298C>A | CA384414249 | LRRK2 | c.3152C>A (p.Pro1051His) c.*2061C>A (n.*2061C>A) c.2897C>A (p.Pro966His) c.196C>A c.1949C>A (p.Pro650His) c.68C>A (p.Pro23His) n.3394C>A | |
| 12 | g.40298298C>G | CA384414251 | LRRK2 | c.3152C>G (p.Pro1051Arg) c.*2061C>G (n.*2061C>G) c.2897C>G (p.Pro966Arg) c.196C>G c.1949C>G (p.Pro650Arg) c.68C>G (p.Pro23Arg) n.3394C>G | |
| 12 | g.40298298C>T | CA384414253 | LRRK2 | c.3152C>T (p.Pro1051Leu) c.*2061C>T (n.*2061C>T) c.2897C>T (p.Pro966Leu) c.196C>T c.1949C>T (p.Pro650Leu) c.68C>T (p.Pro23Leu) n.3394C>T | |
| 12 | g.40298301_40298303del | CA6513850 | LRRK2 | c.3155_3157del (p.Ser1052del) c.*2064_*2066del (n.*2064_*2066del) c.2900_2902del (p.Ser967del) c.199_201del c.1952_1954del (p.Ser651del) c.71_73del (p.Ser24del) n.3397_3399del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40298299T>A | CA479391137 | LRRK2 | c.3153T>A (p.Pro1051=) c.*2062T>A (n.*2062T>A) c.2898T>A (p.Pro966=) c.197T>A c.1950T>A (p.Pro650=) c.69T>A (p.Pro23=) n.3395T>A | |
| 12 | g.40298299T>C | CA479391138 | LRRK2 | c.3153T>C (p.Pro1051=) c.*2062T>C (n.*2062T>C) c.2898T>C (p.Pro966=) c.197T>C c.1950T>C (p.Pro650=) c.69T>C (p.Pro23=) n.3395T>C | |
| 12 | g.40298299T>G | CA479391139 | LRRK2 | c.3153T>G (p.Pro1051=) c.*2062T>G (n.*2062T>G) c.2898T>G (p.Pro966=) c.197T>G c.1950T>G (p.Pro650=) c.69T>G (p.Pro23=) n.3395T>G | gnomAD v4 |
| 12 | g.40298300T>A | CA384414260 | LRRK2 | c.3154T>A (p.Ser1052Thr) c.*2063T>A (n.*2063T>A) c.2899T>A (p.Ser967Thr) c.198T>A c.1951T>A (p.Ser651Thr) c.70T>A (p.Ser24Thr) n.3396T>A | |
| 12 | g.40298300T>C | CA384414254 | LRRK2 | c.3154T>C (p.Ser1052Pro) c.*2063T>C (n.*2063T>C) c.2899T>C (p.Ser967Pro) c.198T>C c.1951T>C (p.Ser651Pro) c.70T>C (p.Ser24Pro) n.3396T>C | dbSNP gnomAD v4 |
| 12 | g.40298300T>G | CA384414257 | LRRK2 | c.3154T>G (p.Ser1052Ala) c.*2063T>G (n.*2063T>G) c.2899T>G (p.Ser967Ala) c.198T>G c.1951T>G (p.Ser651Ala) c.70T>G (p.Ser24Ala) n.3396T>G | |
| 12 | g.40298300T= | CA2030982784 | LRRK2 | c.3154T= (p.Ser1052=) c.*2063T= (n.*2063T=) c.2899T= (p.Ser967=) c.198T= c.1951T= (p.Ser651=) c.70T= (p.Ser24=) n.3396T= | |
| 12 | g.40298301C>A | CA384414263 | LRRK2 | c.3155C>A (p.Ser1052Tyr) c.*2064C>A (n.*2064C>A) c.2900C>A (p.Ser967Tyr) c.199C>A c.1952C>A (p.Ser651Tyr) c.71C>A (p.Ser24Tyr) n.3397C>A | ClinVar dbSNP |