WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1523586A= | CA2201697796 | IFT140 | c.3385T= (p.Cys1129=) c.967T= (p.Cys323=) c.*1823T= (n.*1823T=) n.3209T= c.1018T= (p.Cys340=) c.3139T= (p.Cys1047=) c.2410T= (p.Cys804=) c.1570T= (p.Cys524=) | |
| 16 | g.1523586A>C | CA394225288 | IFT140 | c.3385T>G (p.Cys1129Gly) c.967T>G (p.Cys323Gly) c.*1823T>G (n.*1823T>G) n.3209T>G c.1018T>G (p.Cys340Gly) c.3139T>G (p.Cys1047Gly) c.2410T>G (p.Cys804Gly) c.1570T>G (p.Cys524Gly) | |
| 16 | g.1523586A>G | CA10637181 | IFT140 | c.3385T>C (p.Cys1129Arg) c.967T>C (p.Cys323Arg) c.*1823T>C (n.*1823T>C) n.3209T>C c.1018T>C (p.Cys340Arg) c.3139T>C (p.Cys1047Arg) c.2410T>C (p.Cys804Arg) c.1570T>C (p.Cys524Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523586A>T | CA394225289 | IFT140 | c.3385T>A (p.Cys1129Ser) c.967T>A (p.Cys323Ser) c.*1823T>A (n.*1823T>A) n.3209T>A c.1018T>A (p.Cys340Ser) c.3139T>A (p.Cys1047Ser) c.2410T>A (p.Cys804Ser) c.1570T>A (p.Cys524Ser) | |
| 16 | g.1523586_1523587insCACT | CA620700904 | IFT140 | c.3384_3385insAGTG (p.Cys1129SerfsTer?) c.966_967insAGTG (p.Cys323SerfsTer?) c.*1822_*1823insAGTG (n.*1822_*1823insAGTG) n.3208_3209insAGTG c.1017_1018insAGTG (p.Cys340SerfsTer?) c.3138_3139insAGTG (p.Cys1047SerfsTer?) c.2409_2410insAGTG (p.Cys804SerfsTer?) c.1569_1570insAGTG (p.Cys524SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523587G>A | CA493031823 | IFT140 | c.3384C>T (p.Arg1128=) c.966C>T (p.Arg322=) c.*1822C>T (n.*1822C>T) n.3208C>T c.1017C>T (p.Arg339=) c.3138C>T (p.Arg1046=) c.2409C>T (p.Arg803=) c.1569C>T (p.Arg523=) | dbSNP gnomAD v4 |
| 16 | g.1523587G>C | CA493031824 | IFT140 | c.3384C>G (p.Arg1128=) c.966C>G (p.Arg322=) c.*1822C>G (n.*1822C>G) n.3208C>G c.1017C>G (p.Arg339=) c.3138C>G (p.Arg1046=) c.2409C>G (p.Arg803=) c.1569C>G (p.Arg523=) | |
| 16 | g.1523587G= | CA2201697797 | IFT140 | c.3384C= (p.Arg1128=) c.966C= (p.Arg322=) c.*1822C= (n.*1822C=) n.3208C= c.1017C= (p.Arg339=) c.3138C= (p.Arg1046=) c.2409C= (p.Arg803=) c.1569C= (p.Arg523=) | |
| 16 | g.1523587G>T | CA493031825 | IFT140 | c.3384C>A (p.Arg1128=) c.966C>A (p.Arg322=) c.*1822C>A (n.*1822C>A) n.3208C>A c.1017C>A (p.Arg339=) c.3138C>A (p.Arg1046=) c.2409C>A (p.Arg803=) c.1569C>A (p.Arg523=) | |
| 16 | g.1523587_1523588insACTGTGCTCCGAAGAAGT | CA620700905 | IFT140 | c.3383_3384insACTTCTTCGGAGCACAGT (p.Arg1128_Cys1129insLeuLeuArgSerThrVal) c.965_966insACTTCTTCGGAGCACAGT (p.Arg322_Cys323insLeuLeuArgSerThrVal) c.*1821_*1822insACTTCTTCGGAGCACAGT (n.*1821_*1822insACTTCTTCGGAGCACAGT) n.3207_3208insACTTCTTCGGAGCACAGT c.1016_1017insACTTCTTCGGAGCACAGT (p.Arg339_Cys340insLeuLeuArgSerThrVal) c.3137_3138insACTTCTTCGGAGCACAGT (p.Arg1046_Cys1047insLeuLeuArgSerThrVal) c.2408_2409insACTTCTTCGGAGCACAGT (p.Arg803_Cys804insLeuLeuArgSerThrVal) c.1568_1569insACTTCTTCGGAGCACAGT (p.Arg523_Cys524insLeuLeuArgSerThrVal) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523588C>A | CA276677539 | IFT140 | c.3383G>T (p.Arg1128Leu) c.965G>T (p.Arg322Leu) c.*1821G>T (n.*1821G>T) n.3207G>T c.1016G>T (p.Arg339Leu) c.3137G>T (p.Arg1046Leu) c.2408G>T (p.Arg803Leu) c.1568G>T (p.Arg523Leu) | dbSNP |
| 16 | g.1523588C= | CA2201697798 | IFT140 | c.3383G= (p.Arg1128=) c.965G= (p.Arg322=) c.*1821G= (n.*1821G=) n.3207G= c.1016G= (p.Arg339=) c.3137G= (p.Arg1046=) c.2408G= (p.Arg803=) c.1568G= (p.Arg523=) | |
| 16 | g.1523588C>G | CA394225290 | IFT140 | c.3383G>C (p.Arg1128Pro) c.965G>C (p.Arg322Pro) c.*1821G>C (n.*1821G>C) n.3207G>C c.1016G>C (p.Arg339Pro) c.3137G>C (p.Arg1046Pro) c.2408G>C (p.Arg803Pro) c.1568G>C (p.Arg523Pro) | |
| 16 | g.1523588C>T | CA7813192 | IFT140 | c.3383G>A (p.Arg1128His) c.965G>A (p.Arg322His) c.*1821G>A (n.*1821G>A) n.3207G>A c.1016G>A (p.Arg339His) c.3137G>A (p.Arg1046His) c.2408G>A (p.Arg803His) c.1568G>A (p.Arg523His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523589G>A | CA7813193 | IFT140 | c.3382C>T (p.Arg1128Cys) c.964C>T (p.Arg322Cys) c.*1820C>T (n.*1820C>T) n.3206C>T c.1015C>T (p.Arg339Cys) c.3136C>T (p.Arg1046Cys) c.2407C>T (p.Arg803Cys) c.1567C>T (p.Arg523Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523589G>C | CA394225291 | IFT140 | c.3382C>G (p.Arg1128Gly) c.964C>G (p.Arg322Gly) c.*1820C>G (n.*1820C>G) n.3206C>G c.1015C>G (p.Arg339Gly) c.3136C>G (p.Arg1046Gly) c.2407C>G (p.Arg803Gly) c.1567C>G (p.Arg523Gly) | |
| 16 | g.1523589G= | CA2201697799 | IFT140 | c.3382C= (p.Arg1128=) c.964C= (p.Arg322=) c.*1820C= (n.*1820C=) n.3206C= c.1015C= (p.Arg339=) c.3136C= (p.Arg1046=) c.2407C= (p.Arg803=) c.1567C= (p.Arg523=) | |
| 16 | g.1523589G>T | CA394225292 | IFT140 | c.3382C>A (p.Arg1128Ser) c.964C>A (p.Arg322Ser) c.*1820C>A (n.*1820C>A) n.3206C>A c.1015C>A (p.Arg339Ser) c.3136C>A (p.Arg1046Ser) c.2407C>A (p.Arg803Ser) c.1567C>A (p.Arg523Ser) | |
| 16 | g.1523590G>A | CA493031831 | IFT140 | c.3381C>T (p.Ala1127=) c.963C>T (p.Ala321=) c.*1819C>T (n.*1819C>T) n.3205C>T c.1014C>T (p.Ala338=) c.3135C>T (p.Ala1045=) c.2406C>T (p.Ala802=) c.1566C>T (p.Ala522=) | |
| 16 | g.1523590G>C | CA493031834 | IFT140 | c.3381C>G (p.Ala1127=) c.963C>G (p.Ala321=) c.*1819C>G (n.*1819C>G) n.3205C>G c.1014C>G (p.Ala338=) c.3135C>G (p.Ala1045=) c.2406C>G (p.Ala802=) c.1566C>G (p.Ala522=) | ClinVar |
| 16 | g.1523590G>T | CA493031837 | IFT140 | c.3381C>A (p.Ala1127=) c.963C>A (p.Ala321=) c.*1819C>A (n.*1819C>A) n.3205C>A c.1014C>A (p.Ala338=) c.3135C>A (p.Ala1045=) c.2406C>A (p.Ala802=) c.1566C>A (p.Ala522=) | |
| 16 | g.1523590_1523593delinsGGCC | CA2201697800 | IFT140 | c.3378_3381delinsGGCC (p.Leu1126=) c.960_963delinsGGCC (p.Leu320=) c.*1816_*1819delinsGGCC (n.*1816_*1819delinsGGCC) n.3202_3205delinsGGCC c.1011_1014delinsGGCC (p.Leu337=) c.3132_3135delinsGGCC (p.Leu1044=) c.2403_2406delinsGGCC (p.Leu801=) c.1563_1566delinsGGCC (p.Leu521=) | |
| 16 | g.1523591G>A | CA394225293 | IFT140 | c.3380C>T (p.Ala1127Val) c.962C>T (p.Ala321Val) c.*1818C>T (n.*1818C>T) n.3204C>T c.1013C>T (p.Ala338Val) c.3134C>T (p.Ala1045Val) c.2405C>T (p.Ala802Val) c.1565C>T (p.Ala522Val) | |
| 16 | g.1523591G>C | CA394225294 | IFT140 | c.3380C>G (p.Ala1127Gly) c.962C>G (p.Ala321Gly) c.*1818C>G (n.*1818C>G) n.3204C>G c.1013C>G (p.Ala338Gly) c.3134C>G (p.Ala1045Gly) c.2405C>G (p.Ala802Gly) c.1565C>G (p.Ala522Gly) | |
| 16 | g.1523591G>T | CA394225295 | IFT140 | c.3380C>A (p.Ala1127Asp) c.962C>A (p.Ala321Asp) c.*1818C>A (n.*1818C>A) n.3204C>A c.1013C>A (p.Ala338Asp) c.3134C>A (p.Ala1045Asp) c.2405C>A (p.Ala802Asp) c.1565C>A (p.Ala522Asp) | |
| 16 | g.1523591_1523593del | CA620700908 | IFT140 | c.3378_3380del (p.Ala1127del) c.960_962del (p.Ala321del) c.*1816_*1818del (n.*1816_*1818del) n.3202_3204del c.1011_1013del (p.Ala338del) c.3132_3134del (p.Ala1045del) c.2403_2405del (p.Ala802del) c.1563_1565del (p.Ala522del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523592C>A | CA394225296 | IFT140 | c.3379G>T (p.Ala1127Ser) c.961G>T (p.Ala321Ser) c.*1817G>T (n.*1817G>T) n.3203G>T c.1012G>T (p.Ala338Ser) c.3133G>T (p.Ala1045Ser) c.2404G>T (p.Ala802Ser) c.1564G>T (p.Ala522Ser) | |
| 16 | g.1523592C>G | CA394225297 | IFT140 | c.3379G>C (p.Ala1127Pro) c.961G>C (p.Ala321Pro) c.*1817G>C (n.*1817G>C) n.3203G>C c.1012G>C (p.Ala338Pro) c.3133G>C (p.Ala1045Pro) c.2404G>C (p.Ala802Pro) c.1564G>C (p.Ala522Pro) | |
| 16 | g.1523592C>T | CA394225298 | IFT140 | c.3379G>A (p.Ala1127Thr) c.961G>A (p.Ala321Thr) c.*1817G>A (n.*1817G>A) n.3203G>A c.1012G>A (p.Ala338Thr) c.3133G>A (p.Ala1045Thr) c.2404G>A (p.Ala802Thr) c.1564G>A (p.Ala522Thr) | ClinVar gnomAD v4 |
| 16 | g.1523593C>A | CA493031843 | IFT140 | c.3378G>T (p.Leu1126=) c.960G>T (p.Leu320=) c.*1816G>T (n.*1816G>T) n.3202G>T c.1011G>T (p.Leu337=) c.3132G>T (p.Leu1044=) c.2403G>T (p.Leu801=) c.1563G>T (p.Leu521=) | |
| 16 | g.1523593C>G | CA493031845 | IFT140 | c.3378G>C (p.Leu1126=) c.960G>C (p.Leu320=) c.*1816G>C (n.*1816G>C) n.3202G>C c.1011G>C (p.Leu337=) c.3132G>C (p.Leu1044=) c.2403G>C (p.Leu801=) c.1563G>C (p.Leu521=) | |
| 16 | g.1523593C>T | CA493031846 | IFT140 | c.3378G>A (p.Leu1126=) c.960G>A (p.Leu320=) c.*1816G>A (n.*1816G>A) n.3202G>A c.1011G>A (p.Leu337=) c.3132G>A (p.Leu1044=) c.2403G>A (p.Leu801=) c.1563G>A (p.Leu521=) | |
| 16 | g.1523594A= | CA2201697801 | IFT140 | c.3377T= (p.Leu1126=) c.959T= (p.Leu320=) c.*1815T= (n.*1815T=) n.3201T= c.1010T= (p.Leu337=) c.3131T= (p.Leu1044=) c.2402T= (p.Leu801=) c.1562T= (p.Leu521=) | |
| 16 | g.1523594A>C | CA394225300 | IFT140 | c.3377T>G (p.Leu1126Arg) c.959T>G (p.Leu320Arg) c.*1815T>G (n.*1815T>G) n.3201T>G c.1010T>G (p.Leu337Arg) c.3131T>G (p.Leu1044Arg) c.2402T>G (p.Leu801Arg) c.1562T>G (p.Leu521Arg) | |
| 16 | g.1523594A>G | CA394225301 | IFT140 | c.3377T>C (p.Leu1126Pro) c.959T>C (p.Leu320Pro) c.*1815T>C (n.*1815T>C) n.3201T>C c.1010T>C (p.Leu337Pro) c.3131T>C (p.Leu1044Pro) c.2402T>C (p.Leu801Pro) c.1562T>C (p.Leu521Pro) | ClinVar dbSNP |
| 16 | g.1523594A>T | CA394225299 | IFT140 | c.3377T>A (p.Leu1126Gln) c.959T>A (p.Leu320Gln) c.*1815T>A (n.*1815T>A) n.3201T>A c.1010T>A (p.Leu337Gln) c.3131T>A (p.Leu1044Gln) c.2402T>A (p.Leu801Gln) c.1562T>A (p.Leu521Gln) | |
| 16 | g.1523595G>A | CA493031850 | IFT140 | c.3376C>T (p.Leu1126=) c.958C>T (p.Leu320=) c.*1814C>T (n.*1814C>T) n.3200C>T c.1009C>T (p.Leu337=) c.3130C>T (p.Leu1044=) c.2401C>T (p.Leu801=) c.1561C>T (p.Leu521=) | |
| 16 | g.1523595G>C | CA394225302 | IFT140 | c.3376C>G (p.Leu1126Val) c.958C>G (p.Leu320Val) c.*1814C>G (n.*1814C>G) n.3200C>G c.1009C>G (p.Leu337Val) c.3130C>G (p.Leu1044Val) c.2401C>G (p.Leu801Val) c.1561C>G (p.Leu521Val) | |
| 16 | g.1523595G>T | CA394225303 | IFT140 | c.3376C>A (p.Leu1126Met) c.958C>A (p.Leu320Met) c.*1814C>A (n.*1814C>A) n.3200C>A c.1009C>A (p.Leu337Met) c.3130C>A (p.Leu1044Met) c.2401C>A (p.Leu801Met) c.1561C>A (p.Leu521Met) | |
| 16 | g.1523596G>A | CA493031851 | IFT140 | c.3375C>T (p.Leu1125=) c.957C>T (p.Leu319=) c.*1813C>T (n.*1813C>T) n.3199C>T c.1008C>T (p.Leu336=) c.3129C>T (p.Leu1043=) c.2400C>T (p.Leu800=) c.1560C>T (p.Leu520=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523596G>C | CA493031853 | IFT140 | c.3375C>G (p.Leu1125=) c.957C>G (p.Leu319=) c.*1813C>G (n.*1813C>G) n.3199C>G c.1008C>G (p.Leu336=) c.3129C>G (p.Leu1043=) c.2400C>G (p.Leu800=) c.1560C>G (p.Leu520=) | dbSNP gnomAD v2 |
| 16 | g.1523596G= | CA2201697802 | IFT140 | c.3375C= (p.Leu1125=) c.957C= (p.Leu319=) c.*1813C= (n.*1813C=) n.3199C= c.1008C= (p.Leu336=) c.3129C= (p.Leu1043=) c.2400C= (p.Leu800=) c.1560C= (p.Leu520=) | |
| 16 | g.1523596G>T | CA493031854 | IFT140 | c.3375C>A (p.Leu1125=) c.957C>A (p.Leu319=) c.*1813C>A (n.*1813C>A) n.3199C>A c.1008C>A (p.Leu336=) c.3129C>A (p.Leu1043=) c.2400C>A (p.Leu800=) c.1560C>A (p.Leu520=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523597A>C | CA394225304 | IFT140 | c.3374T>G (p.Leu1125Arg) c.956T>G (p.Leu319Arg) c.*1812T>G (n.*1812T>G) n.3198T>G c.1007T>G (p.Leu336Arg) c.3128T>G (p.Leu1043Arg) c.2399T>G (p.Leu800Arg) c.1559T>G (p.Leu520Arg) | |
| 16 | g.1523597A>G | CA394225305 | IFT140 | c.3374T>C (p.Leu1125Pro) c.956T>C (p.Leu319Pro) c.*1812T>C (n.*1812T>C) n.3198T>C c.1007T>C (p.Leu336Pro) c.3128T>C (p.Leu1043Pro) c.2399T>C (p.Leu800Pro) c.1559T>C (p.Leu520Pro) | gnomAD v4 |
| 16 | g.1523597A>T | CA394225306 | IFT140 | c.3374T>A (p.Leu1125His) c.956T>A (p.Leu319His) c.*1812T>A (n.*1812T>A) n.3198T>A c.1007T>A (p.Leu336His) c.3128T>A (p.Leu1043His) c.2399T>A (p.Leu800His) c.1559T>A (p.Leu520His) | |
| 16 | g.1523598G>A | CA394225307 | IFT140 | c.3373C>T (p.Leu1125Phe) c.955C>T (p.Leu319Phe) c.*1811C>T (n.*1811C>T) n.3197C>T c.1006C>T (p.Leu336Phe) c.3127C>T (p.Leu1043Phe) c.2398C>T (p.Leu800Phe) c.1558C>T (p.Leu520Phe) | ClinVar dbSNP |
| 16 | g.1523598G>C | CA394225308 | IFT140 | c.3373C>G (p.Leu1125Val) c.955C>G (p.Leu319Val) c.*1811C>G (n.*1811C>G) n.3197C>G c.1006C>G (p.Leu336Val) c.3127C>G (p.Leu1043Val) c.2398C>G (p.Leu800Val) c.1558C>G (p.Leu520Val) | |
| 16 | g.1523598G= | CA2201697803 | IFT140 | c.3373C= (p.Leu1125=) c.955C= (p.Leu319=) c.*1811C= (n.*1811C=) n.3197C= c.1006C= (p.Leu336=) c.3127C= (p.Leu1043=) c.2398C= (p.Leu800=) c.1558C= (p.Leu520=) | |
| 16 | g.1523598G>T | CA394225309 | IFT140 | c.3373C>A (p.Leu1125Ile) c.955C>A (p.Leu319Ile) c.*1811C>A (n.*1811C>A) n.3197C>A c.1006C>A (p.Leu336Ile) c.3127C>A (p.Leu1043Ile) c.2398C>A (p.Leu800Ile) c.1558C>A (p.Leu520Ile) | dbSNP gnomAD v3 gnomAD v4 |