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 |
|---|---|---|---|---|---|
| 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 |
| 16 | g.1523599C>A | CA493031857 | IFT140 | c.3372G>T (p.Ala1124=) c.954G>T (p.Ala318=) c.*1810G>T (n.*1810G>T) n.3196G>T c.1005G>T (p.Ala335=) c.3126G>T (p.Ala1042=) c.2397G>T (p.Ala799=) c.1557G>T (p.Ala519=) | dbSNP gnomAD v4 |
| 16 | g.1523599C= | CA2201697804 | IFT140 | c.3372G= (p.Ala1124=) c.954G= (p.Ala318=) c.*1810G= (n.*1810G=) n.3196G= c.1005G= (p.Ala335=) c.3126G= (p.Ala1042=) c.2397G= (p.Ala799=) c.1557G= (p.Ala519=) | |
| 16 | g.1523599C>G | CA493031860 | IFT140 | c.3372G>C (p.Ala1124=) c.954G>C (p.Ala318=) c.*1810G>C (n.*1810G>C) n.3196G>C c.1005G>C (p.Ala335=) c.3126G>C (p.Ala1042=) c.2397G>C (p.Ala799=) c.1557G>C (p.Ala519=) | |
| 16 | g.1523599C>T | CA493031862 | IFT140 | c.3372G>A (p.Ala1124=) c.954G>A (p.Ala318=) c.*1810G>A (n.*1810G>A) n.3196G>A c.1005G>A (p.Ala335=) c.3126G>A (p.Ala1042=) c.2397G>A (p.Ala799=) c.1557G>A (p.Ala519=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523600G>A | CA276677553 | IFT140 | c.3371C>T (p.Ala1124Val) c.953C>T (p.Ala318Val) c.*1809C>T (n.*1809C>T) n.3195C>T c.1004C>T (p.Ala335Val) c.3125C>T (p.Ala1042Val) c.2396C>T (p.Ala799Val) c.1556C>T (p.Ala519Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523600G>C | CA394225310 | IFT140 | c.3371C>G (p.Ala1124Gly) c.953C>G (p.Ala318Gly) c.*1809C>G (n.*1809C>G) n.3195C>G c.1004C>G (p.Ala335Gly) c.3125C>G (p.Ala1042Gly) c.2396C>G (p.Ala799Gly) c.1556C>G (p.Ala519Gly) | gnomAD v4 |
| 16 | g.1523600G= | CA2201697805 | IFT140 | c.3371C= (p.Ala1124=) c.953C= (p.Ala318=) c.*1809C= (n.*1809C=) n.3195C= c.1004C= (p.Ala335=) c.3125C= (p.Ala1042=) c.2396C= (p.Ala799=) c.1556C= (p.Ala519=) | |
| 16 | g.1523600G>T | CA394225311 | IFT140 | c.3371C>A (p.Ala1124Glu) c.953C>A (p.Ala318Glu) c.*1809C>A (n.*1809C>A) n.3195C>A c.1004C>A (p.Ala335Glu) c.3125C>A (p.Ala1042Glu) c.2396C>A (p.Ala799Glu) c.1556C>A (p.Ala519Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523601C>A | CA394225312 | IFT140 | c.3370G>T (p.Ala1124Ser) c.952G>T (p.Ala318Ser) c.*1808G>T (n.*1808G>T) n.3194G>T c.1003G>T (p.Ala335Ser) c.3124G>T (p.Ala1042Ser) c.2395G>T (p.Ala799Ser) c.1555G>T (p.Ala519Ser) | |
| 16 | g.1523601C>G | CA394225313 | IFT140 | c.3370G>C (p.Ala1124Pro) c.952G>C (p.Ala318Pro) c.*1808G>C (n.*1808G>C) n.3194G>C c.1003G>C (p.Ala335Pro) c.3124G>C (p.Ala1042Pro) c.2395G>C (p.Ala799Pro) c.1555G>C (p.Ala519Pro) | |
| 16 | g.1523601C>T | CA394225314 | IFT140 | c.3370G>A (p.Ala1124Thr) c.952G>A (p.Ala318Thr) c.*1808G>A (n.*1808G>A) n.3194G>A c.1003G>A (p.Ala335Thr) c.3124G>A (p.Ala1042Thr) c.2395G>A (p.Ala799Thr) c.1555G>A (p.Ala519Thr) | gnomAD v4 |
| 16 | g.1523602A= | CA2201697806 | IFT140 | c.3369T= (p.Pro1123=) c.951T= (p.Pro317=) c.*1807T= (n.*1807T=) n.3193T= c.1002T= (p.Pro334=) c.3123T= (p.Pro1041=) c.2394T= (p.Pro798=) c.1554T= (p.Pro518=) | |
| 16 | g.1523602A>C | CA493031867 | IFT140 | c.3369T>G (p.Pro1123=) c.951T>G (p.Pro317=) c.*1807T>G (n.*1807T>G) n.3193T>G c.1002T>G (p.Pro334=) c.3123T>G (p.Pro1041=) c.2394T>G (p.Pro798=) c.1554T>G (p.Pro518=) | gnomAD v4 |
| 16 | g.1523602A>G | CA7813194 | IFT140 | c.3369T>C (p.Pro1123=) c.951T>C (p.Pro317=) c.*1807T>C (n.*1807T>C) n.3193T>C c.1002T>C (p.Pro334=) c.3123T>C (p.Pro1041=) c.2394T>C (p.Pro798=) c.1554T>C (p.Pro518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523602A>T | CA493031869 | IFT140 | c.3369T>A (p.Pro1123=) c.951T>A (p.Pro317=) c.*1807T>A (n.*1807T>A) n.3193T>A c.1002T>A (p.Pro334=) c.3123T>A (p.Pro1041=) c.2394T>A (p.Pro798=) c.1554T>A (p.Pro518=) | |
| 16 | g.1523603G>A | CA7813195 | IFT140 | c.3368C>T (p.Pro1123Leu) c.950C>T (p.Pro317Leu) c.*1806C>T (n.*1806C>T) n.3192C>T c.1001C>T (p.Pro334Leu) c.3122C>T (p.Pro1041Leu) c.2393C>T (p.Pro798Leu) c.1553C>T (p.Pro518Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.1523603G>C | CA394225315 | IFT140 | c.3368C>G (p.Pro1123Arg) c.950C>G (p.Pro317Arg) c.*1806C>G (n.*1806C>G) n.3192C>G c.1001C>G (p.Pro334Arg) c.3122C>G (p.Pro1041Arg) c.2393C>G (p.Pro798Arg) c.1553C>G (p.Pro518Arg) | |
| 16 | g.1523603G= | CA2201697807 | IFT140 | c.3368C= (p.Pro1123=) c.950C= (p.Pro317=) c.*1806C= (n.*1806C=) n.3192C= c.1001C= (p.Pro334=) c.3122C= (p.Pro1041=) c.2393C= (p.Pro798=) c.1553C= (p.Pro518=) | |
| 16 | g.1523603G>T | CA394225316 | IFT140 | c.3368C>A (p.Pro1123His) c.950C>A (p.Pro317His) c.*1806C>A (n.*1806C>A) n.3192C>A c.1001C>A (p.Pro334His) c.3122C>A (p.Pro1041His) c.2393C>A (p.Pro798His) c.1553C>A (p.Pro518His) | |
| 16 | g.1523604G>A | CA394225317 | IFT140 | c.3367C>T (p.Pro1123Ser) c.949C>T (p.Pro317Ser) c.*1805C>T (n.*1805C>T) n.3191C>T c.1000C>T (p.Pro334Ser) c.3121C>T (p.Pro1041Ser) c.2392C>T (p.Pro798Ser) c.1552C>T (p.Pro518Ser) | |
| 16 | g.1523604G>C | CA394225318 | IFT140 | c.3367C>G (p.Pro1123Ala) c.949C>G (p.Pro317Ala) c.*1805C>G (n.*1805C>G) n.3191C>G c.1000C>G (p.Pro334Ala) c.3121C>G (p.Pro1041Ala) c.2392C>G (p.Pro798Ala) c.1552C>G (p.Pro518Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1523604G>T | CA394225319 | IFT140 | c.3367C>A (p.Pro1123Thr) c.949C>A (p.Pro317Thr) c.*1805C>A (n.*1805C>A) n.3191C>A c.1000C>A (p.Pro334Thr) c.3121C>A (p.Pro1041Thr) c.2392C>A (p.Pro798Thr) c.1552C>A (p.Pro518Thr) | |
| 16 | g.1523605G>A | CA493031873 | IFT140 | c.3366C>T (p.Asp1122=) c.948C>T (p.Asp316=) c.*1804C>T (n.*1804C>T) n.3190C>T c.999C>T (p.Asp333=) c.3120C>T (p.Asp1040=) c.2391C>T (p.Asp797=) c.1551C>T (p.Asp517=) | |
| 16 | g.1523605G>C | CA394225320 | IFT140 | c.3366C>G (p.Asp1122Glu) c.948C>G (p.Asp316Glu) c.*1804C>G (n.*1804C>G) n.3190C>G c.999C>G (p.Asp333Glu) c.3120C>G (p.Asp1040Glu) c.2391C>G (p.Asp797Glu) c.1551C>G (p.Asp517Glu) | |
| 16 | g.1523605G>T | CA394225321 | IFT140 | c.3366C>A (p.Asp1122Glu) c.948C>A (p.Asp316Glu) c.*1804C>A (n.*1804C>A) n.3190C>A c.999C>A (p.Asp333Glu) c.3120C>A (p.Asp1040Glu) c.2391C>A (p.Asp797Glu) c.1551C>A (p.Asp517Glu) | |
| 16 | g.1523606T>A | CA394225322 | IFT140 | c.3365A>T (p.Asp1122Val) c.947A>T (p.Asp316Val) c.*1803A>T (n.*1803A>T) n.3189A>T c.998A>T (p.Asp333Val) c.3119A>T (p.Asp1040Val) c.2390A>T (p.Asp797Val) c.1550A>T (p.Asp517Val) | |
| 16 | g.1523606T>C | CA394225323 | IFT140 | c.3365A>G (p.Asp1122Gly) c.947A>G (p.Asp316Gly) c.*1803A>G (n.*1803A>G) n.3189A>G c.998A>G (p.Asp333Gly) c.3119A>G (p.Asp1040Gly) c.2390A>G (p.Asp797Gly) c.1550A>G (p.Asp517Gly) | |
| 16 | g.1523606T>G | CA394225324 | IFT140 | c.3365A>C (p.Asp1122Ala) c.947A>C (p.Asp316Ala) c.*1803A>C (n.*1803A>C) n.3189A>C c.998A>C (p.Asp333Ala) c.3119A>C (p.Asp1040Ala) c.2390A>C (p.Asp797Ala) c.1550A>C (p.Asp517Ala) | |
| 16 | g.1523607C>A | CA394225325 | IFT140 | c.3364G>T (p.Asp1122Tyr) c.946G>T (p.Asp316Tyr) c.*1802G>T (n.*1802G>T) n.3188G>T c.997G>T (p.Asp333Tyr) c.3118G>T (p.Asp1040Tyr) c.2389G>T (p.Asp797Tyr) c.1549G>T (p.Asp517Tyr) | |
| 16 | g.1523607C>G | CA394225326 | IFT140 | c.3364G>C (p.Asp1122His) c.946G>C (p.Asp316His) c.*1802G>C (n.*1802G>C) n.3188G>C c.997G>C (p.Asp333His) c.3118G>C (p.Asp1040His) c.2389G>C (p.Asp797His) c.1549G>C (p.Asp517His) | |
| 16 | g.1523607C>T | CA394225327 | IFT140 | c.3364G>A (p.Asp1122Asn) c.946G>A (p.Asp316Asn) c.*1802G>A (n.*1802G>A) n.3188G>A c.997G>A (p.Asp333Asn) c.3118G>A (p.Asp1040Asn) c.2389G>A (p.Asp797Asn) c.1549G>A (p.Asp517Asn) | ClinVar |
| 16 | g.1523608T>A | CA493031882 | IFT140 | c.3363A>T (p.Ser1121=) c.945A>T (p.Ser315=) c.*1801A>T (n.*1801A>T) n.3187A>T c.996A>T (p.Ser332=) c.3117A>T (p.Ser1039=) c.2388A>T (p.Ser796=) c.1548A>T (p.Ser516=) | |
| 16 | g.1523608T>C | CA493031884 | IFT140 | c.3363A>G (p.Ser1121=) c.945A>G (p.Ser315=) c.*1801A>G (n.*1801A>G) n.3187A>G c.996A>G (p.Ser332=) c.3117A>G (p.Ser1039=) c.2388A>G (p.Ser796=) c.1548A>G (p.Ser516=) | gnomAD v4 |
| 16 | g.1523608T>G | CA493031887 | IFT140 | c.3363A>C (p.Ser1121=) c.945A>C (p.Ser315=) c.*1801A>C (n.*1801A>C) n.3187A>C c.996A>C (p.Ser332=) c.3117A>C (p.Ser1039=) c.2388A>C (p.Ser796=) c.1548A>C (p.Ser516=) | |
| 16 | g.1523609G>A | CA394225330 | IFT140 | c.3362C>T (p.Ser1121Leu) c.944C>T (p.Ser315Leu) c.*1800C>T (n.*1800C>T) n.3186C>T c.995C>T (p.Ser332Leu) c.3116C>T (p.Ser1039Leu) c.2387C>T (p.Ser796Leu) c.1547C>T (p.Ser516Leu) | |
| 16 | g.1523609G>C | CA394225329 | IFT140 | c.3362C>G (p.Ser1121Ter) c.944C>G (p.Ser315Ter) c.*1800C>G (n.*1800C>G) n.3186C>G c.995C>G (p.Ser332Ter) c.3116C>G (p.Ser1039Ter) c.2387C>G (p.Ser796Ter) c.1547C>G (p.Ser516Ter) | |
| 16 | g.1523609G>T | CA394225328 | IFT140 | c.3362C>A (p.Ser1121Ter) c.944C>A (p.Ser315Ter) c.*1800C>A (n.*1800C>A) n.3186C>A c.995C>A (p.Ser332Ter) c.3116C>A (p.Ser1039Ter) c.2387C>A (p.Ser796Ter) c.1547C>A (p.Ser516Ter) | |
| 16 | g.1523610A>C | CA394225331 | IFT140 | c.3361T>G (p.Ser1121Ala) c.943T>G (p.Ser315Ala) c.*1799T>G (n.*1799T>G) n.3185T>G c.994T>G (p.Ser332Ala) c.3115T>G (p.Ser1039Ala) c.2386T>G (p.Ser796Ala) c.1546T>G (p.Ser516Ala) | |
| 16 | g.1523610A>G | CA394225332 | IFT140 | c.3361T>C (p.Ser1121Pro) c.943T>C (p.Ser315Pro) c.*1799T>C (n.*1799T>C) n.3185T>C c.994T>C (p.Ser332Pro) c.3115T>C (p.Ser1039Pro) c.2386T>C (p.Ser796Pro) c.1546T>C (p.Ser516Pro) | |
| 16 | g.1523610A>T | CA394225333 | IFT140 | c.3361T>A (p.Ser1121Thr) c.943T>A (p.Ser315Thr) c.*1799T>A (n.*1799T>A) n.3185T>A c.994T>A (p.Ser332Thr) c.3115T>A (p.Ser1039Thr) c.2386T>A (p.Ser796Thr) c.1546T>A (p.Ser516Thr) | |
| 16 | g.1523611C>A | CA493031894 | IFT140 | c.3360G>T (p.Thr1120=) c.942G>T (p.Thr314=) c.*1798G>T (n.*1798G>T) n.3184G>T c.993G>T (p.Thr331=) c.3114G>T (p.Thr1038=) c.2385G>T (p.Thr795=) c.1545G>T (p.Thr515=) | |
| 16 | g.1523611C= | CA2201697808 | IFT140 | c.3360G= (p.Thr1120=) c.942G= (p.Thr314=) c.*1798G= (n.*1798G=) n.3184G= c.993G= (p.Thr331=) c.3114G= (p.Thr1038=) c.2385G= (p.Thr795=) c.1545G= (p.Thr515=) | |
| 16 | g.1523611C>G | CA493031893 | IFT140 | c.3360G>C (p.Thr1120=) c.942G>C (p.Thr314=) c.*1798G>C (n.*1798G>C) n.3184G>C c.993G>C (p.Thr331=) c.3114G>C (p.Thr1038=) c.2385G>C (p.Thr795=) c.1545G>C (p.Thr515=) | |
| 16 | g.1523611C>T | CA7813196 | IFT140 | c.3360G>A (p.Thr1120=) c.942G>A (p.Thr314=) c.*1798G>A (n.*1798G>A) n.3184G>A c.993G>A (p.Thr331=) c.3114G>A (p.Thr1038=) c.2385G>A (p.Thr795=) c.1545G>A (p.Thr515=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523612G>A | CA7813197 | IFT140 | c.3359C>T (p.Thr1120Met) c.941C>T (p.Thr314Met) c.*1797C>T (n.*1797C>T) n.3183C>T c.992C>T (p.Thr331Met) c.3113C>T (p.Thr1038Met) c.2384C>T (p.Thr795Met) c.1544C>T (p.Thr515Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523612G>C | CA394225334 | IFT140 | c.3359C>G (p.Thr1120Arg) c.941C>G (p.Thr314Arg) c.*1797C>G (n.*1797C>G) n.3183C>G c.992C>G (p.Thr331Arg) c.3113C>G (p.Thr1038Arg) c.2384C>G (p.Thr795Arg) c.1544C>G (p.Thr515Arg) | |
| 16 | g.1523612G= | CA2201697809 | IFT140 | c.3359C= (p.Thr1120=) c.941C= (p.Thr314=) c.*1797C= (n.*1797C=) n.3183C= c.992C= (p.Thr331=) c.3113C= (p.Thr1038=) c.2384C= (p.Thr795=) c.1544C= (p.Thr515=) | |
| 16 | g.1523612G>T | CA394225335 | IFT140 | c.3359C>A (p.Thr1120Lys) c.941C>A (p.Thr314Lys) c.*1797C>A (n.*1797C>A) n.3183C>A c.992C>A (p.Thr331Lys) c.3113C>A (p.Thr1038Lys) c.2384C>A (p.Thr795Lys) c.1544C>A (p.Thr515Lys) | |
| 16 | g.1523613T>A | CA394225336 | IFT140 | c.3358A>T (p.Thr1120Ser) c.940A>T (p.Thr314Ser) c.*1796A>T (n.*1796A>T) n.3182A>T c.991A>T (p.Thr331Ser) c.3112A>T (p.Thr1038Ser) c.2383A>T (p.Thr795Ser) c.1543A>T (p.Thr515Ser) | |
| 16 | g.1523613T>C | CA394225337 | IFT140 | c.3358A>G (p.Thr1120Ala) c.940A>G (p.Thr314Ala) c.*1796A>G (n.*1796A>G) n.3182A>G c.991A>G (p.Thr331Ala) c.3112A>G (p.Thr1038Ala) c.2383A>G (p.Thr795Ala) c.1543A>G (p.Thr515Ala) | |
| 16 | g.1523613T>G | CA394225338 | IFT140 | c.3358A>C (p.Thr1120Pro) c.940A>C (p.Thr314Pro) c.*1796A>C (n.*1796A>C) n.3182A>C c.991A>C (p.Thr331Pro) c.3112A>C (p.Thr1038Pro) c.2383A>C (p.Thr795Pro) c.1543A>C (p.Thr515Pro) | |
| 16 | g.1523614C>A | CA394225339 | IFT140 | c.3357G>T (p.Glu1119Asp) c.939G>T (p.Glu313Asp) c.*1795G>T (n.*1795G>T) n.3181G>T c.990G>T (p.Glu330Asp) c.3111G>T (p.Glu1037Asp) c.2382G>T (p.Glu794Asp) c.1542G>T (p.Glu514Asp) | |
| 16 | g.1523614C>G | CA394225340 | IFT140 | c.3357G>C (p.Glu1119Asp) c.939G>C (p.Glu313Asp) c.*1795G>C (n.*1795G>C) n.3181G>C c.990G>C (p.Glu330Asp) c.3111G>C (p.Glu1037Asp) c.2382G>C (p.Glu794Asp) c.1542G>C (p.Glu514Asp) | |
| 16 | g.1523614C>T | CA493031899 | IFT140 | c.3357G>A (p.Glu1119=) c.939G>A (p.Glu313=) c.*1795G>A (n.*1795G>A) n.3181G>A c.990G>A (p.Glu330=) c.3111G>A (p.Glu1037=) c.2382G>A (p.Glu794=) c.1542G>A (p.Glu514=) | |
| 16 | g.1523615T>A | CA394225342 | IFT140 | c.3356A>T (p.Glu1119Val) c.938A>T (p.Glu313Val) c.*1794A>T (n.*1794A>T) n.3180A>T c.989A>T (p.Glu330Val) c.3110A>T (p.Glu1037Val) c.2381A>T (p.Glu794Val) c.1541A>T (p.Glu514Val) | |
| 16 | g.1523615T>C | CA394225343 | IFT140 | c.3356A>G (p.Glu1119Gly) c.938A>G (p.Glu313Gly) c.*1794A>G (n.*1794A>G) n.3180A>G c.989A>G (p.Glu330Gly) c.3110A>G (p.Glu1037Gly) c.2381A>G (p.Glu794Gly) c.1541A>G (p.Glu514Gly) | gnomAD v4 |
| 16 | g.1523615T>G | CA394225341 | IFT140 | c.3356A>C (p.Glu1119Ala) c.938A>C (p.Glu313Ala) c.*1794A>C (n.*1794A>C) n.3180A>C c.989A>C (p.Glu330Ala) c.3110A>C (p.Glu1037Ala) c.2381A>C (p.Glu794Ala) c.1541A>C (p.Glu514Ala) | |
| 16 | g.1523616C>A | CA394225344 | IFT140 | c.3355G>T (p.Glu1119Ter) c.937G>T (p.Glu313Ter) c.*1793G>T (n.*1793G>T) n.3179G>T c.988G>T (p.Glu330Ter) c.3109G>T (p.Glu1037Ter) c.2380G>T (p.Glu794Ter) c.1540G>T (p.Glu514Ter) | |
| 16 | g.1523616C= | CA2201697810 | IFT140 | c.3355G= (p.Glu1119=) c.937G= (p.Glu313=) c.*1793G= (n.*1793G=) n.3179G= c.988G= (p.Glu330=) c.3109G= (p.Glu1037=) c.2380G= (p.Glu794=) c.1540G= (p.Glu514=) | |
| 16 | g.1523616C>G | CA394225345 | IFT140 | c.3355G>C (p.Glu1119Gln) c.937G>C (p.Glu313Gln) c.*1793G>C (n.*1793G>C) n.3179G>C c.988G>C (p.Glu330Gln) c.3109G>C (p.Glu1037Gln) c.2380G>C (p.Glu794Gln) c.1540G>C (p.Glu514Gln) | |
| 16 | g.1523616C>T | CA276677579 | IFT140 | c.3355G>A (p.Glu1119Lys) c.937G>A (p.Glu313Lys) c.*1793G>A (n.*1793G>A) n.3179G>A c.988G>A (p.Glu330Lys) c.3109G>A (p.Glu1037Lys) c.2380G>A (p.Glu794Lys) c.1540G>A (p.Glu514Lys) | dbSNP |
| 16 | g.1523617A>C | CA394225346 | IFT140 | c.3354T>G (p.Asp1118Glu) c.936T>G (p.Asp312Glu) c.*1792T>G (n.*1792T>G) n.3178T>G c.987T>G (p.Asp329Glu) c.3108T>G (p.Asp1036Glu) c.2379T>G (p.Asp793Glu) c.1539T>G (p.Asp513Glu) | |
| 16 | g.1523617A>G | CA493031904 | IFT140 | c.3354T>C (p.Asp1118=) c.936T>C (p.Asp312=) c.*1792T>C (n.*1792T>C) n.3178T>C c.987T>C (p.Asp329=) c.3108T>C (p.Asp1036=) c.2379T>C (p.Asp793=) c.1539T>C (p.Asp513=) | |
| 16 | g.1523617A>T | CA394225347 | IFT140 | c.3354T>A (p.Asp1118Glu) c.936T>A (p.Asp312Glu) c.*1792T>A (n.*1792T>A) n.3178T>A c.987T>A (p.Asp329Glu) c.3108T>A (p.Asp1036Glu) c.2379T>A (p.Asp793Glu) c.1539T>A (p.Asp513Glu) | |
| 16 | g.1523618T>A | CA394225350 | IFT140 | c.3353A>T (p.Asp1118Val) c.935A>T (p.Asp312Val) c.*1791A>T (n.*1791A>T) n.3177A>T c.986A>T (p.Asp329Val) c.3107A>T (p.Asp1036Val) c.2378A>T (p.Asp793Val) c.1538A>T (p.Asp513Val) | |
| 16 | g.1523618T>C | CA394225348 | IFT140 | c.3353A>G (p.Asp1118Gly) c.935A>G (p.Asp312Gly) c.*1791A>G (n.*1791A>G) n.3177A>G c.986A>G (p.Asp329Gly) c.3107A>G (p.Asp1036Gly) c.2378A>G (p.Asp793Gly) c.1538A>G (p.Asp513Gly) | |
| 16 | g.1523618T>G | CA394225349 | IFT140 | c.3353A>C (p.Asp1118Ala) c.935A>C (p.Asp312Ala) c.*1791A>C (n.*1791A>C) n.3177A>C c.986A>C (p.Asp329Ala) c.3107A>C (p.Asp1036Ala) c.2378A>C (p.Asp793Ala) c.1538A>C (p.Asp513Ala) | |
| 16 | g.1523619C>A | CA7813198 | IFT140 | c.3352G>T (p.Asp1118Tyr) c.934G>T (p.Asp312Tyr) c.*1790G>T (n.*1790G>T) n.3176G>T c.985G>T (p.Asp329Tyr) c.3106G>T (p.Asp1036Tyr) c.2377G>T (p.Asp793Tyr) c.1537G>T (p.Asp513Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523619C= | CA2201697811 | IFT140 | c.3352G= (p.Asp1118=) c.934G= (p.Asp312=) c.*1790G= (n.*1790G=) n.3176G= c.985G= (p.Asp329=) c.3106G= (p.Asp1036=) c.2377G= (p.Asp793=) c.1537G= (p.Asp513=) | |
| 16 | g.1523619C>G | CA394225351 | IFT140 | c.3352G>C (p.Asp1118His) c.934G>C (p.Asp312His) c.*1790G>C (n.*1790G>C) n.3176G>C c.985G>C (p.Asp329His) c.3106G>C (p.Asp1036His) c.2377G>C (p.Asp793His) c.1537G>C (p.Asp513His) | |
| 16 | g.1523619C>T | CA394225352 | IFT140 | c.3352G>A (p.Asp1118Asn) c.934G>A (p.Asp312Asn) c.*1790G>A (n.*1790G>A) n.3176G>A c.985G>A (p.Asp329Asn) c.3106G>A (p.Asp1036Asn) c.2377G>A (p.Asp793Asn) c.1537G>A (p.Asp513Asn) | |
| 16 | g.1523620C>A | CA493031911 | IFT140 | c.3351G>T (p.Leu1117=) c.933G>T (p.Leu311=) c.*1789G>T (n.*1789G>T) n.3175G>T c.984G>T (p.Leu328=) c.3105G>T (p.Leu1035=) c.2376G>T (p.Leu792=) c.1536G>T (p.Leu512=) | |
| 16 | g.1523620C>G | CA493031912 | IFT140 | c.3351G>C (p.Leu1117=) c.933G>C (p.Leu311=) c.*1789G>C (n.*1789G>C) n.3175G>C c.984G>C (p.Leu328=) c.3105G>C (p.Leu1035=) c.2376G>C (p.Leu792=) c.1536G>C (p.Leu512=) | |
| 16 | g.1523620C>T | CA493031914 | IFT140 | c.3351G>A (p.Leu1117=) c.933G>A (p.Leu311=) c.*1789G>A (n.*1789G>A) n.3175G>A c.984G>A (p.Leu328=) c.3105G>A (p.Leu1035=) c.2376G>A (p.Leu792=) c.1536G>A (p.Leu512=) | |
| 16 | g.1523621A= | CA2201697812 | IFT140 | c.3350T= (p.Leu1117=) c.932T= (p.Leu311=) c.*1788T= (n.*1788T=) n.3174T= c.983T= (p.Leu328=) c.3104T= (p.Leu1035=) c.2375T= (p.Leu792=) c.1535T= (p.Leu512=) | |
| 16 | g.1523621A>C | CA394225353 | IFT140 | c.3350T>G (p.Leu1117Arg) c.932T>G (p.Leu311Arg) c.*1788T>G (n.*1788T>G) n.3174T>G c.983T>G (p.Leu328Arg) c.3104T>G (p.Leu1035Arg) c.2375T>G (p.Leu792Arg) c.1535T>G (p.Leu512Arg) | |
| 16 | g.1523621A>G | CA7813199 | IFT140 | c.3350T>C (p.Leu1117Pro) c.932T>C (p.Leu311Pro) c.*1788T>C (n.*1788T>C) n.3174T>C c.983T>C (p.Leu328Pro) c.3104T>C (p.Leu1035Pro) c.2375T>C (p.Leu792Pro) c.1535T>C (p.Leu512Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523621A>T | CA394225354 | IFT140 | c.3350T>A (p.Leu1117Gln) c.932T>A (p.Leu311Gln) c.*1788T>A (n.*1788T>A) n.3174T>A c.983T>A (p.Leu328Gln) c.3104T>A (p.Leu1035Gln) c.2375T>A (p.Leu792Gln) c.1535T>A (p.Leu512Gln) | gnomAD v4 |
| 16 | g.1523622G>A | CA493031919 | IFT140 | c.3349C>T (p.Leu1117=) c.931C>T (p.Leu311=) c.*1787C>T (n.*1787C>T) n.3173C>T c.982C>T (p.Leu328=) c.3103C>T (p.Leu1035=) c.2374C>T (p.Leu792=) c.1534C>T (p.Leu512=) | |
| 16 | g.1523622G>C | CA394225356 | IFT140 | c.3349C>G (p.Leu1117Val) c.931C>G (p.Leu311Val) c.*1787C>G (n.*1787C>G) n.3173C>G c.982C>G (p.Leu328Val) c.3103C>G (p.Leu1035Val) c.2374C>G (p.Leu792Val) c.1534C>G (p.Leu512Val) | |
| 16 | g.1523622G>T | CA394225355 | IFT140 | c.3349C>A (p.Leu1117Met) c.931C>A (p.Leu311Met) c.*1787C>A (n.*1787C>A) n.3173C>A c.982C>A (p.Leu328Met) c.3103C>A (p.Leu1035Met) c.2374C>A (p.Leu792Met) c.1534C>A (p.Leu512Met) | |
| 16 | g.1523623G>A | CA493031920 | IFT140 | c.3348C>T (p.Asp1116=) c.930C>T (p.Asp310=) c.*1786C>T (n.*1786C>T) n.3172C>T c.981C>T (p.Asp327=) c.3102C>T (p.Asp1034=) c.2373C>T (p.Asp791=) c.1533C>T (p.Asp511=) | gnomAD v4 |
| 16 | g.1523623G>C | CA394225357 | IFT140 | c.3348C>G (p.Asp1116Glu) c.930C>G (p.Asp310Glu) c.*1786C>G (n.*1786C>G) n.3172C>G c.981C>G (p.Asp327Glu) c.3102C>G (p.Asp1034Glu) c.2373C>G (p.Asp791Glu) c.1533C>G (p.Asp511Glu) | |
| 16 | g.1523623G= | CA2201697813 | IFT140 | c.3348C= (p.Asp1116=) c.930C= (p.Asp310=) c.*1786C= (n.*1786C=) n.3172C= c.981C= (p.Asp327=) c.3102C= (p.Asp1034=) c.2373C= (p.Asp791=) c.1533C= (p.Asp511=) | |
| 16 | g.1523623G>T | CA394225358 | IFT140 | c.3348C>A (p.Asp1116Glu) c.930C>A (p.Asp310Glu) c.*1786C>A (n.*1786C>A) n.3172C>A c.981C>A (p.Asp327Glu) c.3102C>A (p.Asp1034Glu) c.2373C>A (p.Asp791Glu) c.1533C>A (p.Asp511Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523624T>A | CA394225359 | IFT140 | c.3347A>T (p.Asp1116Val) c.929A>T (p.Asp310Val) c.*1785A>T (n.*1785A>T) n.3171A>T c.980A>T (p.Asp327Val) c.3101A>T (p.Asp1034Val) c.2372A>T (p.Asp791Val) c.1532A>T (p.Asp511Val) | |
| 16 | g.1523624T>C | CA7813200 | IFT140 | c.3347A>G (p.Asp1116Gly) c.929A>G (p.Asp310Gly) c.*1785A>G (n.*1785A>G) n.3171A>G c.980A>G (p.Asp327Gly) c.3101A>G (p.Asp1034Gly) c.2372A>G (p.Asp791Gly) c.1532A>G (p.Asp511Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523624T>G | CA394225360 | IFT140 | c.3347A>C (p.Asp1116Ala) c.929A>C (p.Asp310Ala) c.*1785A>C (n.*1785A>C) n.3171A>C c.980A>C (p.Asp327Ala) c.3101A>C (p.Asp1034Ala) c.2372A>C (p.Asp791Ala) c.1532A>C (p.Asp511Ala) | |
| 16 | g.1523624T= | CA2201697814 | IFT140 | c.3347A= (p.Asp1116=) c.929A= (p.Asp310=) c.*1785A= (n.*1785A=) n.3171A= c.980A= (p.Asp327=) c.3101A= (p.Asp1034=) c.2372A= (p.Asp791=) c.1532A= (p.Asp511=) | |
| 16 | g.1523625C>A | CA394225361 | IFT140 | c.3346G>T (p.Asp1116Tyr) c.928G>T (p.Asp310Tyr) c.*1784G>T (n.*1784G>T) n.3170G>T c.979G>T (p.Asp327Tyr) c.3100G>T (p.Asp1034Tyr) c.2371G>T (p.Asp791Tyr) c.1531G>T (p.Asp511Tyr) | |
| 16 | g.1523625C= | CA2201697815 | IFT140 | c.3346G= (p.Asp1116=) c.928G= (p.Asp310=) c.*1784G= (n.*1784G=) n.3170G= c.979G= (p.Asp327=) c.3100G= (p.Asp1034=) c.2371G= (p.Asp791=) c.1531G= (p.Asp511=) | |
| 16 | g.1523625C>G | CA394225363 | IFT140 | c.3346G>C (p.Asp1116His) c.928G>C (p.Asp310His) c.*1784G>C (n.*1784G>C) n.3170G>C c.979G>C (p.Asp327His) c.3100G>C (p.Asp1034His) c.2371G>C (p.Asp791His) c.1531G>C (p.Asp511His) | |
| 16 | g.1523625C>T | CA394225362 | IFT140 | c.3346G>A (p.Asp1116Asn) c.928G>A (p.Asp310Asn) c.*1784G>A (n.*1784G>A) n.3170G>A c.979G>A (p.Asp327Asn) c.3100G>A (p.Asp1034Asn) c.2371G>A (p.Asp791Asn) c.1531G>A (p.Asp511Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1523626C>A | CA394225364 | IFT140 | c.3345G>T (p.Glu1115Asp) c.927G>T (p.Glu309Asp) c.*1783G>T (n.*1783G>T) n.3169G>T c.978G>T (p.Glu326Asp) c.3099G>T (p.Glu1033Asp) c.2370G>T (p.Glu790Asp) c.1530G>T (p.Glu510Asp) | |
| 16 | g.1523626C= | CA2201697816 | IFT140 | c.3345G= (p.Glu1115=) c.927G= (p.Glu309=) c.*1783G= (n.*1783G=) n.3169G= c.978G= (p.Glu326=) c.3099G= (p.Glu1033=) c.2370G= (p.Glu790=) c.1530G= (p.Glu510=) | |
| 16 | g.1523626C>G | CA394225365 | IFT140 | c.3345G>C (p.Glu1115Asp) c.927G>C (p.Glu309Asp) c.*1783G>C (n.*1783G>C) n.3169G>C c.978G>C (p.Glu326Asp) c.3099G>C (p.Glu1033Asp) c.2370G>C (p.Glu790Asp) c.1530G>C (p.Glu510Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1523626C>T | CA493031927 | IFT140 | c.3345G>A (p.Glu1115=) c.927G>A (p.Glu309=) c.*1783G>A (n.*1783G>A) n.3169G>A c.978G>A (p.Glu326=) c.3099G>A (p.Glu1033=) c.2370G>A (p.Glu790=) c.1530G>A (p.Glu510=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523627T>A | CA394225366 | IFT140 | c.3344A>T (p.Glu1115Val) c.926A>T (p.Glu309Val) c.*1782A>T (n.*1782A>T) n.3168A>T c.977A>T (p.Glu326Val) c.3098A>T (p.Glu1033Val) c.2369A>T (p.Glu790Val) c.1529A>T (p.Glu510Val) | |
| 16 | g.1523627T>C | CA394225367 | IFT140 | c.3344A>G (p.Glu1115Gly) c.926A>G (p.Glu309Gly) c.*1782A>G (n.*1782A>G) n.3168A>G c.977A>G (p.Glu326Gly) c.3098A>G (p.Glu1033Gly) c.2369A>G (p.Glu790Gly) c.1529A>G (p.Glu510Gly) | |
| 16 | g.1523627T>G | CA394225368 | IFT140 | c.3344A>C (p.Glu1115Ala) c.926A>C (p.Glu309Ala) c.*1782A>C (n.*1782A>C) n.3168A>C c.977A>C (p.Glu326Ala) c.3098A>C (p.Glu1033Ala) c.2369A>C (p.Glu790Ala) c.1529A>C (p.Glu510Ala) | |
| 16 | g.1523628C>A | CA394225369 | IFT140 | c.3343G>T (p.Glu1115Ter) c.925G>T (p.Glu309Ter) c.*1781G>T (n.*1781G>T) n.3167G>T c.976G>T (p.Glu326Ter) c.3097G>T (p.Glu1033Ter) c.2368G>T (p.Glu790Ter) c.1528G>T (p.Glu510Ter) | |
| 16 | g.1523628C>G | CA394225370 | IFT140 | c.3343G>C (p.Glu1115Gln) c.925G>C (p.Glu309Gln) c.*1781G>C (n.*1781G>C) n.3167G>C c.976G>C (p.Glu326Gln) c.3097G>C (p.Glu1033Gln) c.2368G>C (p.Glu790Gln) c.1528G>C (p.Glu510Gln) | |
| 16 | g.1523628C>T | CA394225371 | IFT140 | c.3343G>A (p.Glu1115Lys) c.925G>A (p.Glu309Lys) c.*1781G>A (n.*1781G>A) n.3167G>A c.976G>A (p.Glu326Lys) c.3097G>A (p.Glu1033Lys) c.2368G>A (p.Glu790Lys) c.1528G>A (p.Glu510Lys) | |
| 16 | g.1523629T>A | CA493031935 | IFT140 | c.3342A>T (p.Ala1114=) c.924A>T (p.Ala308=) c.*1780A>T (n.*1780A>T) n.3166A>T c.975A>T (p.Ala325=) c.3096A>T (p.Ala1032=) c.2367A>T (p.Ala789=) c.1527A>T (p.Ala509=) | |
| 16 | g.1523629T>C | CA493031938 | IFT140 | c.3342A>G (p.Ala1114=) c.924A>G (p.Ala308=) c.*1780A>G (n.*1780A>G) n.3166A>G c.975A>G (p.Ala325=) c.3096A>G (p.Ala1032=) c.2367A>G (p.Ala789=) c.1527A>G (p.Ala509=) | |
| 16 | g.1523629T>G | CA493031940 | IFT140 | c.3342A>C (p.Ala1114=) c.924A>C (p.Ala308=) c.*1780A>C (n.*1780A>C) n.3166A>C c.975A>C (p.Ala325=) c.3096A>C (p.Ala1032=) c.2367A>C (p.Ala789=) c.1527A>C (p.Ala509=) | |
| 16 | g.1523630G>A | CA394225372 | IFT140 | c.3341C>T (p.Ala1114Val) c.923C>T (p.Ala308Val) c.*1779C>T (n.*1779C>T) n.3165C>T c.974C>T (p.Ala325Val) c.3095C>T (p.Ala1032Val) c.2366C>T (p.Ala789Val) c.1526C>T (p.Ala509Val) | dbSNP gnomAD v4 |
| 16 | g.1523630G>C | CA394225373 | IFT140 | c.3341C>G (p.Ala1114Gly) c.923C>G (p.Ala308Gly) c.*1779C>G (n.*1779C>G) n.3165C>G c.974C>G (p.Ala325Gly) c.3095C>G (p.Ala1032Gly) c.2366C>G (p.Ala789Gly) c.1526C>G (p.Ala509Gly) | |
| 16 | g.1523630G= | CA2201697817 | IFT140 | c.3341C= (p.Ala1114=) c.923C= (p.Ala308=) c.*1779C= (n.*1779C=) n.3165C= c.974C= (p.Ala325=) c.3095C= (p.Ala1032=) c.2366C= (p.Ala789=) c.1526C= (p.Ala509=) | |
| 16 | g.1523630G>T | CA394225374 | IFT140 | c.3341C>A (p.Ala1114Glu) c.923C>A (p.Ala308Glu) c.*1779C>A (n.*1779C>A) n.3165C>A c.974C>A (p.Ala325Glu) c.3095C>A (p.Ala1032Glu) c.2366C>A (p.Ala789Glu) c.1526C>A (p.Ala509Glu) | |
| 16 | g.1523631C>A | CA394225375 | IFT140 | c.3340G>T (p.Ala1114Ser) c.922G>T (p.Ala308Ser) c.*1778G>T (n.*1778G>T) n.3164G>T c.973G>T (p.Ala325Ser) c.3094G>T (p.Ala1032Ser) c.2365G>T (p.Ala789Ser) c.1525G>T (p.Ala509Ser) | |
| 16 | g.1523631C>G | CA394225376 | IFT140 | c.3340G>C (p.Ala1114Pro) c.922G>C (p.Ala308Pro) c.*1778G>C (n.*1778G>C) n.3164G>C c.973G>C (p.Ala325Pro) c.3094G>C (p.Ala1032Pro) c.2365G>C (p.Ala789Pro) c.1525G>C (p.Ala509Pro) | |
| 16 | g.1523631C>T | CA394225377 | IFT140 | c.3340G>A (p.Ala1114Thr) c.922G>A (p.Ala308Thr) c.*1778G>A (n.*1778G>A) n.3164G>A c.973G>A (p.Ala325Thr) c.3094G>A (p.Ala1032Thr) c.2365G>A (p.Ala789Thr) c.1525G>A (p.Ala509Thr) | |
| 16 | g.1523632T>A | CA493031947 | IFT140 | c.3339A>T (p.Ile1113=) c.921A>T (p.Ile307=) c.*1777A>T (n.*1777A>T) n.3163A>T c.972A>T (p.Ile324=) c.3093A>T (p.Ile1031=) c.2364A>T (p.Ile788=) c.1524A>T (p.Ile508=) | |
| 16 | g.1523632T>C | CA394225378 | IFT140 | c.3339A>G (p.Ile1113Met) c.921A>G (p.Ile307Met) c.*1777A>G (n.*1777A>G) n.3163A>G c.972A>G (p.Ile324Met) c.3093A>G (p.Ile1031Met) c.2364A>G (p.Ile788Met) c.1524A>G (p.Ile508Met) | gnomAD v4 |
| 16 | g.1523632T>G | CA493031944 | IFT140 | c.3339A>C (p.Ile1113=) c.921A>C (p.Ile307=) c.*1777A>C (n.*1777A>C) n.3163A>C c.972A>C (p.Ile324=) c.3093A>C (p.Ile1031=) c.2364A>C (p.Ile788=) c.1524A>C (p.Ile508=) | |
| 16 | g.1523633A= | CA2201697818 | IFT140 | c.3338T= (p.Ile1113=) c.920T= (p.Ile307=) c.*1776T= (n.*1776T=) n.3162T= c.971T= (p.Ile324=) c.3092T= (p.Ile1031=) c.2363T= (p.Ile788=) c.1523T= (p.Ile508=) | |
| 16 | g.1523633A>C | CA394225379 | IFT140 | c.3338T>G (p.Ile1113Arg) c.920T>G (p.Ile307Arg) c.*1776T>G (n.*1776T>G) n.3162T>G c.971T>G (p.Ile324Arg) c.3092T>G (p.Ile1031Arg) c.2363T>G (p.Ile788Arg) c.1523T>G (p.Ile508Arg) | |
| 16 | g.1523633A>G | CA394225381 | IFT140 | c.3338T>C (p.Ile1113Thr) c.920T>C (p.Ile307Thr) c.*1776T>C (n.*1776T>C) n.3162T>C c.971T>C (p.Ile324Thr) c.3092T>C (p.Ile1031Thr) c.2363T>C (p.Ile788Thr) c.1523T>C (p.Ile508Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1523633A>T | CA394225380 | IFT140 | c.3338T>A (p.Ile1113Lys) c.920T>A (p.Ile307Lys) c.*1776T>A (n.*1776T>A) n.3162T>A c.971T>A (p.Ile324Lys) c.3092T>A (p.Ile1031Lys) c.2363T>A (p.Ile788Lys) c.1523T>A (p.Ile508Lys) | |
| 16 | g.1523634T>A | CA394225382 | IFT140 | c.3337A>T (p.Ile1113Leu) c.919A>T (p.Ile307Leu) c.*1775A>T (n.*1775A>T) n.3161A>T c.970A>T (p.Ile324Leu) c.3091A>T (p.Ile1031Leu) c.2362A>T (p.Ile788Leu) c.1522A>T (p.Ile508Leu) | |
| 16 | g.1523634T>C | CA394225383 | IFT140 | c.3337A>G (p.Ile1113Val) c.919A>G (p.Ile307Val) c.*1775A>G (n.*1775A>G) n.3161A>G c.970A>G (p.Ile324Val) c.3091A>G (p.Ile1031Val) c.2362A>G (p.Ile788Val) c.1522A>G (p.Ile508Val) | gnomAD v4 |
| 16 | g.1523634T>G | CA394225384 | IFT140 | c.3337A>C (p.Ile1113Leu) c.919A>C (p.Ile307Leu) c.*1775A>C (n.*1775A>C) n.3161A>C c.970A>C (p.Ile324Leu) c.3091A>C (p.Ile1031Leu) c.2362A>C (p.Ile788Leu) c.1522A>C (p.Ile508Leu) | |
| 16 | g.1523635G>A | CA7813201 | IFT140 | c.3336C>T (p.Leu1112=) c.918C>T (p.Leu306=) c.*1774C>T (n.*1774C>T) n.3160C>T c.969C>T (p.Leu323=) c.3090C>T (p.Leu1030=) c.2361C>T (p.Leu787=) c.1521C>T (p.Leu507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523635G>C | CA493031953 | IFT140 | c.3336C>G (p.Leu1112=) c.918C>G (p.Leu306=) c.*1774C>G (n.*1774C>G) n.3160C>G c.969C>G (p.Leu323=) c.3090C>G (p.Leu1030=) c.2361C>G (p.Leu787=) c.1521C>G (p.Leu507=) | |
| 16 | g.1523635G= | CA2201697819 | IFT140 | c.3336C= (p.Leu1112=) c.918C= (p.Leu306=) c.*1774C= (n.*1774C=) n.3160C= c.969C= (p.Leu323=) c.3090C= (p.Leu1030=) c.2361C= (p.Leu787=) c.1521C= (p.Leu507=) | |
| 16 | g.1523635G>T | CA493031950 | IFT140 | c.3336C>A (p.Leu1112=) c.918C>A (p.Leu306=) c.*1774C>A (n.*1774C>A) n.3160C>A c.969C>A (p.Leu323=) c.3090C>A (p.Leu1030=) c.2361C>A (p.Leu787=) c.1521C>A (p.Leu507=) | |
| 16 | g.1523636A>C | CA394225385 | IFT140 | c.3335T>G (p.Leu1112Arg) c.917T>G (p.Leu306Arg) c.*1773T>G (n.*1773T>G) n.3159T>G c.968T>G (p.Leu323Arg) c.3089T>G (p.Leu1030Arg) c.2360T>G (p.Leu787Arg) c.1520T>G (p.Leu507Arg) | |
| 16 | g.1523636A>G | CA394225386 | IFT140 | c.3335T>C (p.Leu1112Pro) c.917T>C (p.Leu306Pro) c.*1773T>C (n.*1773T>C) n.3159T>C c.968T>C (p.Leu323Pro) c.3089T>C (p.Leu1030Pro) c.2360T>C (p.Leu787Pro) c.1520T>C (p.Leu507Pro) | |
| 16 | g.1523636A>T | CA394225387 | IFT140 | c.3335T>A (p.Leu1112His) c.917T>A (p.Leu306His) c.*1773T>A (n.*1773T>A) n.3159T>A c.968T>A (p.Leu323His) c.3089T>A (p.Leu1030His) c.2360T>A (p.Leu787His) c.1520T>A (p.Leu507His) | |
| 16 | g.1523637G>A | CA394225388 | IFT140 | c.3334C>T (p.Leu1112Phe) c.916C>T (p.Leu306Phe) c.*1772C>T (n.*1772C>T) n.3158C>T c.967C>T (p.Leu323Phe) c.3088C>T (p.Leu1030Phe) c.2359C>T (p.Leu787Phe) c.1519C>T (p.Leu507Phe) | gnomAD v4 |
| 16 | g.1523637G>C | CA394225389 | IFT140 | c.3334C>G (p.Leu1112Val) c.916C>G (p.Leu306Val) c.*1772C>G (n.*1772C>G) n.3158C>G c.967C>G (p.Leu323Val) c.3088C>G (p.Leu1030Val) c.2359C>G (p.Leu787Val) c.1519C>G (p.Leu507Val) | |
| 16 | g.1523637G>T | CA394225390 | IFT140 | c.3334C>A (p.Leu1112Ile) c.916C>A (p.Leu306Ile) c.*1772C>A (n.*1772C>A) n.3158C>A c.967C>A (p.Leu323Ile) c.3088C>A (p.Leu1030Ile) c.2359C>A (p.Leu787Ile) c.1519C>A (p.Leu507Ile) | |
| 16 | g.1523638C>A | CA394225392 | IFT140 | c.3333G>T (p.Gln1111His) c.915G>T (p.Gln305His) c.*1771G>T (n.*1771G>T) n.3157G>T c.966G>T (p.Gln322His) c.3087G>T (p.Gln1029His) c.2358G>T (p.Gln786His) c.1518G>T (p.Gln506His) | |
| 16 | g.1523638C>G | CA394225391 | IFT140 | c.3333G>C (p.Gln1111His) c.915G>C (p.Gln305His) c.*1771G>C (n.*1771G>C) n.3157G>C c.966G>C (p.Gln322His) c.3087G>C (p.Gln1029His) c.2358G>C (p.Gln786His) c.1518G>C (p.Gln506His) | gnomAD v4 |
| 16 | g.1523638C>T | CA493031957 | IFT140 | c.3333G>A (p.Gln1111=) c.915G>A (p.Gln305=) c.*1771G>A (n.*1771G>A) n.3157G>A c.966G>A (p.Gln322=) c.3087G>A (p.Gln1029=) c.2358G>A (p.Gln786=) c.1518G>A (p.Gln506=) | gnomAD v4 |
| 16 | g.1523639T>A | CA394225393 | IFT140 | c.3332A>T (p.Gln1111Leu) c.914A>T (p.Gln305Leu) c.*1770A>T (n.*1770A>T) n.3156A>T c.965A>T (p.Gln322Leu) c.3086A>T (p.Gln1029Leu) c.2357A>T (p.Gln786Leu) c.1517A>T (p.Gln506Leu) | |
| 16 | g.1523639T>C | CA394225394 | IFT140 | c.3332A>G (p.Gln1111Arg) c.914A>G (p.Gln305Arg) c.*1770A>G (n.*1770A>G) n.3156A>G c.965A>G (p.Gln322Arg) c.3086A>G (p.Gln1029Arg) c.2357A>G (p.Gln786Arg) c.1517A>G (p.Gln506Arg) | dbSNP gnomAD v2 |
| 16 | g.1523639T>G | CA394225395 | IFT140 | c.3332A>C (p.Gln1111Pro) c.914A>C (p.Gln305Pro) c.*1770A>C (n.*1770A>C) n.3156A>C c.965A>C (p.Gln322Pro) c.3086A>C (p.Gln1029Pro) c.2357A>C (p.Gln786Pro) c.1517A>C (p.Gln506Pro) | |
| 16 | g.1523639T= | CA2201697820 | IFT140 | c.3332A= (p.Gln1111=) c.914A= (p.Gln305=) c.*1770A= (n.*1770A=) n.3156A= c.965A= (p.Gln322=) c.3086A= (p.Gln1029=) c.2357A= (p.Gln786=) c.1517A= (p.Gln506=) | |
| 16 | g.1523640G>A | CA394225396 | IFT140 | c.3331C>T (p.Gln1111Ter) c.913C>T (p.Gln305Ter) c.*1769C>T (n.*1769C>T) n.3155C>T c.964C>T (p.Gln322Ter) c.3085C>T (p.Gln1029Ter) c.2356C>T (p.Gln786Ter) c.1516C>T (p.Gln506Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523640G>C | CA394225397 | IFT140 | c.3331C>G (p.Gln1111Glu) c.913C>G (p.Gln305Glu) c.*1769C>G (n.*1769C>G) n.3155C>G c.964C>G (p.Gln322Glu) c.3085C>G (p.Gln1029Glu) c.2356C>G (p.Gln786Glu) c.1516C>G (p.Gln506Glu) | |
| 16 | g.1523640G= | CA2201697821 | IFT140 | c.3331C= (p.Gln1111=) c.913C= (p.Gln305=) c.*1769C= (n.*1769C=) n.3155C= c.964C= (p.Gln322=) c.3085C= (p.Gln1029=) c.2356C= (p.Gln786=) c.1516C= (p.Gln506=) | |
| 16 | g.1523640G>T | CA394225398 | IFT140 | c.3331C>A (p.Gln1111Lys) c.913C>A (p.Gln305Lys) c.*1769C>A (n.*1769C>A) n.3155C>A c.964C>A (p.Gln322Lys) c.3085C>A (p.Gln1029Lys) c.2356C>A (p.Gln786Lys) c.1516C>A (p.Gln506Lys) | |
| 16 | g.1523641T>A | CA493031962 | IFT140 | c.3330A>T (p.Leu1110=) c.912A>T (p.Leu304=) c.*1768A>T (n.*1768A>T) n.3154A>T c.963A>T (p.Leu321=) c.3084A>T (p.Leu1028=) c.2355A>T (p.Leu785=) c.1515A>T (p.Leu505=) | |
| 16 | g.1523641T>C | CA493031964 | IFT140 | c.3330A>G (p.Leu1110=) c.912A>G (p.Leu304=) c.*1768A>G (n.*1768A>G) n.3154A>G c.963A>G (p.Leu321=) c.3084A>G (p.Leu1028=) c.2355A>G (p.Leu785=) c.1515A>G (p.Leu505=) | gnomAD v4 |
| 16 | g.1523641T>G | CA493031965 | IFT140 | c.3330A>C (p.Leu1110=) c.912A>C (p.Leu304=) c.*1768A>C (n.*1768A>C) n.3154A>C c.963A>C (p.Leu321=) c.3084A>C (p.Leu1028=) c.2355A>C (p.Leu785=) c.1515A>C (p.Leu505=) | |
| 16 | g.1523642A= | CA2201697822 | IFT140 | c.3329T= (p.Leu1110=) c.911T= (p.Leu304=) c.*1767T= (n.*1767T=) n.3153T= c.962T= (p.Leu321=) c.3083T= (p.Leu1028=) c.2354T= (p.Leu785=) c.1514T= (p.Leu505=) | |
| 16 | g.1523642A>C | CA394225400 | IFT140 | c.3329T>G (p.Leu1110Arg) c.911T>G (p.Leu304Arg) c.*1767T>G (n.*1767T>G) n.3153T>G c.962T>G (p.Leu321Arg) c.3083T>G (p.Leu1028Arg) c.2354T>G (p.Leu785Arg) c.1514T>G (p.Leu505Arg) | |
| 16 | g.1523642A>G | CA394225399 | IFT140 | c.3329T>C (p.Leu1110Pro) c.911T>C (p.Leu304Pro) c.*1767T>C (n.*1767T>C) n.3153T>C c.962T>C (p.Leu321Pro) c.3083T>C (p.Leu1028Pro) c.2354T>C (p.Leu785Pro) c.1514T>C (p.Leu505Pro) | |
| 16 | g.1523642A>T | CA7813202 | IFT140 | c.3329T>A (p.Leu1110Gln) c.911T>A (p.Leu304Gln) c.*1767T>A (n.*1767T>A) n.3153T>A c.962T>A (p.Leu321Gln) c.3083T>A (p.Leu1028Gln) c.2354T>A (p.Leu785Gln) c.1514T>A (p.Leu505Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523643G>A | CA493031967 | IFT140 | c.3328C>T (p.Leu1110=) c.910C>T (p.Leu304=) c.*1766C>T (n.*1766C>T) n.3152C>T c.961C>T (p.Leu321=) c.3082C>T (p.Leu1028=) c.2353C>T (p.Leu785=) c.1513C>T (p.Leu505=) | |
| 16 | g.1523643G>C | CA394225401 | IFT140 | c.3328C>G (p.Leu1110Val) c.910C>G (p.Leu304Val) c.*1766C>G (n.*1766C>G) n.3152C>G c.961C>G (p.Leu321Val) c.3082C>G (p.Leu1028Val) c.2353C>G (p.Leu785Val) c.1513C>G (p.Leu505Val) | |
| 16 | g.1523643G>T | CA394225402 | IFT140 | c.3328C>A (p.Leu1110Ile) c.910C>A (p.Leu304Ile) c.*1766C>A (n.*1766C>A) n.3152C>A c.961C>A (p.Leu321Ile) c.3082C>A (p.Leu1028Ile) c.2353C>A (p.Leu785Ile) c.1513C>A (p.Leu505Ile) | |
| 16 | g.1523644G>A | CA493031968 | IFT140 | c.3327C>T (p.Ala1109=) c.909C>T (p.Ala303=) c.*1765C>T (n.*1765C>T) n.3151C>T c.960C>T (p.Ala320=) c.3081C>T (p.Ala1027=) c.2352C>T (p.Ala784=) c.1512C>T (p.Ala504=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523644G>C | CA493031969 | IFT140 | c.3327C>G (p.Ala1109=) c.909C>G (p.Ala303=) c.*1765C>G (n.*1765C>G) n.3151C>G c.960C>G (p.Ala320=) c.3081C>G (p.Ala1027=) c.2352C>G (p.Ala784=) c.1512C>G (p.Ala504=) | |
| 16 | g.1523644G= | CA2201697823 | IFT140 | c.3327C= (p.Ala1109=) c.909C= (p.Ala303=) c.*1765C= (n.*1765C=) n.3151C= c.960C= (p.Ala320=) c.3081C= (p.Ala1027=) c.2352C= (p.Ala784=) c.1512C= (p.Ala504=) | |
| 16 | g.1523644G>T | CA493031972 | IFT140 | c.3327C>A (p.Ala1109=) c.909C>A (p.Ala303=) c.*1765C>A (n.*1765C>A) n.3151C>A c.960C>A (p.Ala320=) c.3081C>A (p.Ala1027=) c.2352C>A (p.Ala784=) c.1512C>A (p.Ala504=) | |
| 16 | g.1523645G>A | CA276677603 | IFT140 | c.3326C>T (p.Ala1109Val) c.908C>T (p.Ala303Val) c.*1764C>T (n.*1764C>T) n.3150C>T c.959C>T (p.Ala320Val) c.3080C>T (p.Ala1027Val) c.2351C>T (p.Ala784Val) c.1511C>T (p.Ala504Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.1523645G>C | CA394225403 | IFT140 | c.3326C>G (p.Ala1109Gly) c.908C>G (p.Ala303Gly) c.*1764C>G (n.*1764C>G) n.3150C>G c.959C>G (p.Ala320Gly) c.3080C>G (p.Ala1027Gly) c.2351C>G (p.Ala784Gly) c.1511C>G (p.Ala504Gly) | |
| 16 | g.1523645G= | CA2201697824 | IFT140 | c.3326C= (p.Ala1109=) c.908C= (p.Ala303=) c.*1764C= (n.*1764C=) n.3150C= c.959C= (p.Ala320=) c.3080C= (p.Ala1027=) c.2351C= (p.Ala784=) c.1511C= (p.Ala504=) | |
| 16 | g.1523645G>T | CA394225404 | IFT140 | c.3326C>A (p.Ala1109Asp) c.908C>A (p.Ala303Asp) c.*1764C>A (n.*1764C>A) n.3150C>A c.959C>A (p.Ala320Asp) c.3080C>A (p.Ala1027Asp) c.2351C>A (p.Ala784Asp) c.1511C>A (p.Ala504Asp) | |
| 16 | g.1523646C>A | CA394225405 | IFT140 | c.3325G>T (p.Ala1109Ser) c.907G>T (p.Ala303Ser) c.*1763G>T (n.*1763G>T) n.3149G>T c.958G>T (p.Ala320Ser) c.3079G>T (p.Ala1027Ser) c.2350G>T (p.Ala784Ser) c.1510G>T (p.Ala504Ser) | |
| 16 | g.1523646C>G | CA394225407 | IFT140 | c.3325G>C (p.Ala1109Pro) c.907G>C (p.Ala303Pro) c.*1763G>C (n.*1763G>C) n.3149G>C c.958G>C (p.Ala320Pro) c.3079G>C (p.Ala1027Pro) c.2350G>C (p.Ala784Pro) c.1510G>C (p.Ala504Pro) | |
| 16 | g.1523646C>T | CA394225406 | IFT140 | c.3325G>A (p.Ala1109Thr) c.907G>A (p.Ala303Thr) c.*1763G>A (n.*1763G>A) n.3149G>A c.958G>A (p.Ala320Thr) c.3079G>A (p.Ala1027Thr) c.2350G>A (p.Ala784Thr) c.1510G>A (p.Ala504Thr) | |
| 16 | g.1523647C>A | CA493031979 | IFT140 | c.3324G>T (p.Val1108=) c.906G>T (p.Val302=) c.*1762G>T (n.*1762G>T) n.3148G>T c.957G>T (p.Val319=) c.3078G>T (p.Val1026=) c.2349G>T (p.Val783=) c.1509G>T (p.Val503=) | |
| 16 | g.1523647C>G | CA493031981 | IFT140 | c.3324G>C (p.Val1108=) c.906G>C (p.Val302=) c.*1762G>C (n.*1762G>C) n.3148G>C c.957G>C (p.Val319=) c.3078G>C (p.Val1026=) c.2349G>C (p.Val783=) c.1509G>C (p.Val503=) | |
| 16 | g.1523647C>T | CA493031982 | IFT140 | c.3324G>A (p.Val1108=) c.906G>A (p.Val302=) c.*1762G>A (n.*1762G>A) n.3148G>A c.957G>A (p.Val319=) c.3078G>A (p.Val1026=) c.2349G>A (p.Val783=) c.1509G>A (p.Val503=) | |
| 16 | g.1523648A= | CA2201697825 | IFT140 | c.3323T= (p.Val1108=) c.905T= (p.Val302=) c.*1761T= (n.*1761T=) n.3147T= c.956T= (p.Val319=) c.3077T= (p.Val1026=) c.2348T= (p.Val783=) c.1508T= (p.Val503=) | |
| 16 | g.1523648A>C | CA394225408 | IFT140 | c.3323T>G (p.Val1108Gly) c.905T>G (p.Val302Gly) c.*1761T>G (n.*1761T>G) n.3147T>G c.956T>G (p.Val319Gly) c.3077T>G (p.Val1026Gly) c.2348T>G (p.Val783Gly) c.1508T>G (p.Val503Gly) | |
| 16 | g.1523648A>G | CA394225409 | IFT140 | c.3323T>C (p.Val1108Ala) c.905T>C (p.Val302Ala) c.*1761T>C (n.*1761T>C) n.3147T>C c.956T>C (p.Val319Ala) c.3077T>C (p.Val1026Ala) c.2348T>C (p.Val783Ala) c.1508T>C (p.Val503Ala) | ClinVar dbSNP |
| 16 | g.1523648A>T | CA394225410 | IFT140 | c.3323T>A (p.Val1108Glu) c.905T>A (p.Val302Glu) c.*1761T>A (n.*1761T>A) n.3147T>A c.956T>A (p.Val319Glu) c.3077T>A (p.Val1026Glu) c.2348T>A (p.Val783Glu) c.1508T>A (p.Val503Glu) | |
| 16 | g.1523649C>A | CA394225411 | IFT140 | c.3322G>T (p.Val1108Leu) c.904G>T (p.Val302Leu) c.*1760G>T (n.*1760G>T) n.3146G>T c.955G>T (p.Val319Leu) c.3076G>T (p.Val1026Leu) c.2347G>T (p.Val783Leu) c.1507G>T (p.Val503Leu) | gnomAD v4 |
| 16 | g.1523649C= | CA2201697826 | IFT140 | c.3322G= (p.Val1108=) c.904G= (p.Val302=) c.*1760G= (n.*1760G=) n.3146G= c.955G= (p.Val319=) c.3076G= (p.Val1026=) c.2347G= (p.Val783=) c.1507G= (p.Val503=) | |
| 16 | g.1523649C>G | CA394225412 | IFT140 | c.3322G>C (p.Val1108Leu) c.904G>C (p.Val302Leu) c.*1760G>C (n.*1760G>C) n.3146G>C c.955G>C (p.Val319Leu) c.3076G>C (p.Val1026Leu) c.2347G>C (p.Val783Leu) c.1507G>C (p.Val503Leu) | |
| 16 | g.1523649C>T | CA394225413 | IFT140 | c.3322G>A (p.Val1108Met) c.904G>A (p.Val302Met) c.*1760G>A (n.*1760G>A) n.3146G>A c.955G>A (p.Val319Met) c.3076G>A (p.Val1026Met) c.2347G>A (p.Val783Met) c.1507G>A (p.Val503Met) | ClinVar dbSNP |
| 16 | g.1523650A>C | CA394225414 | IFT140 | c.3321T>G (p.Phe1107Leu) c.903T>G (p.Phe301Leu) c.*1759T>G (n.*1759T>G) n.3145T>G c.954T>G (p.Phe318Leu) c.3075T>G (p.Phe1025Leu) c.2346T>G (p.Phe782Leu) c.1506T>G (p.Phe502Leu) | |
| 16 | g.1523650A>G | CA493031990 | IFT140 | c.3321T>C (p.Phe1107=) c.903T>C (p.Phe301=) c.*1759T>C (n.*1759T>C) n.3145T>C c.954T>C (p.Phe318=) c.3075T>C (p.Phe1025=) c.2346T>C (p.Phe782=) c.1506T>C (p.Phe502=) | |
| 16 | g.1523650A>T | CA394225415 | IFT140 | c.3321T>A (p.Phe1107Leu) c.903T>A (p.Phe301Leu) c.*1759T>A (n.*1759T>A) n.3145T>A c.954T>A (p.Phe318Leu) c.3075T>A (p.Phe1025Leu) c.2346T>A (p.Phe782Leu) c.1506T>A (p.Phe502Leu) | |
| 16 | g.1523650_1523651insCTCTCG | CA2805559215 | IFT140 | c.3320_3321insCGAGAG (p.Phe1107_Val1108insGluSer) c.902_903insCGAGAG (p.Phe301_Val302insGluSer) c.*1758_*1759insCGAGAG (n.*1758_*1759insCGAGAG) n.3144_3145insCGAGAG c.953_954insCGAGAG (p.Phe318_Val319insGluSer) c.3074_3075insCGAGAG (p.Phe1025_Val1026insGluSer) c.2345_2346insCGAGAG (p.Phe782_Val783insGluSer) c.1505_1506insCGAGAG (p.Phe502_Val503insGluSer) | |
| 16 | g.1523651A= | CA2201697827 | IFT140 | c.3320T= (p.Phe1107=) c.902T= (p.Phe301=) c.*1758T= (n.*1758T=) n.3144T= c.953T= (p.Phe318=) c.3074T= (p.Phe1025=) c.2345T= (p.Phe782=) c.1505T= (p.Phe502=) | |
| 16 | g.1523651A>C | CA394225416 | IFT140 | c.3320T>G (p.Phe1107Cys) c.902T>G (p.Phe301Cys) c.*1758T>G (n.*1758T>G) n.3144T>G c.953T>G (p.Phe318Cys) c.3074T>G (p.Phe1025Cys) c.2345T>G (p.Phe782Cys) c.1505T>G (p.Phe502Cys) | |
| 16 | g.1523651A>G | CA276677607 | IFT140 | c.3320T>C (p.Phe1107Ser) c.902T>C (p.Phe301Ser) c.*1758T>C (n.*1758T>C) n.3144T>C c.953T>C (p.Phe318Ser) c.3074T>C (p.Phe1025Ser) c.2345T>C (p.Phe782Ser) c.1505T>C (p.Phe502Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523651A>T | CA394225417 | IFT140 | c.3320T>A (p.Phe1107Tyr) c.902T>A (p.Phe301Tyr) c.*1758T>A (n.*1758T>A) n.3144T>A c.953T>A (p.Phe318Tyr) c.3074T>A (p.Phe1025Tyr) c.2345T>A (p.Phe782Tyr) c.1505T>A (p.Phe502Tyr) | |
| 16 | g.1523652A>C | CA394225420 | IFT140 | c.3319T>G (p.Phe1107Val) c.901T>G (p.Phe301Val) c.*1757T>G (n.*1757T>G) n.3143T>G c.952T>G (p.Phe318Val) c.3073T>G (p.Phe1025Val) c.2344T>G (p.Phe782Val) c.1504T>G (p.Phe502Val) | |
| 16 | g.1523652A>G | CA394225419 | IFT140 | c.3319T>C (p.Phe1107Leu) c.901T>C (p.Phe301Leu) c.*1757T>C (n.*1757T>C) n.3143T>C c.952T>C (p.Phe318Leu) c.3073T>C (p.Phe1025Leu) c.2344T>C (p.Phe782Leu) c.1504T>C (p.Phe502Leu) | |
| 16 | g.1523652A>T | CA394225418 | IFT140 | c.3319T>A (p.Phe1107Ile) c.901T>A (p.Phe301Ile) c.*1757T>A (n.*1757T>A) n.3143T>A c.952T>A (p.Phe318Ile) c.3073T>A (p.Phe1025Ile) c.2344T>A (p.Phe782Ile) c.1504T>A (p.Phe502Ile) | |
| 16 | g.1523653C>A | CA394225422 | IFT140 | c.3318G>T (p.Gln1106His) c.900G>T (p.Gln300His) c.*1756G>T (n.*1756G>T) n.3142G>T c.951G>T (p.Gln317His) c.3072G>T (p.Gln1024His) c.2343G>T (p.Gln781His) c.1503G>T (p.Gln501His) | |
| 16 | g.1523653C= | CA2201697828 | IFT140 | c.3318G= (p.Gln1106=) c.900G= (p.Gln300=) c.*1756G= (n.*1756G=) n.3142G= c.951G= (p.Gln317=) c.3072G= (p.Gln1024=) c.2343G= (p.Gln781=) c.1503G= (p.Gln501=) | |
| 16 | g.1523653C>G | CA394225421 | IFT140 | c.3318G>C (p.Gln1106His) c.900G>C (p.Gln300His) c.*1756G>C (n.*1756G>C) n.3142G>C c.951G>C (p.Gln317His) c.3072G>C (p.Gln1024His) c.2343G>C (p.Gln781His) c.1503G>C (p.Gln501His) | |
| 16 | g.1523653C>T | CA493031998 | IFT140 | c.3318G>A (p.Gln1106=) c.900G>A (p.Gln300=) c.*1756G>A (n.*1756G>A) n.3142G>A c.951G>A (p.Gln317=) c.3072G>A (p.Gln1024=) c.2343G>A (p.Gln781=) c.1503G>A (p.Gln501=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1523654T>A | CA394225425 | IFT140 | c.3317A>T (p.Gln1106Leu) c.899A>T (p.Gln300Leu) c.*1755A>T (n.*1755A>T) n.3141A>T c.950A>T (p.Gln317Leu) c.3071A>T (p.Gln1024Leu) c.2342A>T (p.Gln781Leu) c.1502A>T (p.Gln501Leu) | |
| 16 | g.1523654T>C | CA394225423 | IFT140 | c.3317A>G (p.Gln1106Arg) c.899A>G (p.Gln300Arg) c.*1755A>G (n.*1755A>G) n.3141A>G c.950A>G (p.Gln317Arg) c.3071A>G (p.Gln1024Arg) c.2342A>G (p.Gln781Arg) c.1502A>G (p.Gln501Arg) | gnomAD v4 |
| 16 | g.1523654T>G | CA394225424 | IFT140 | c.3317A>C (p.Gln1106Pro) c.899A>C (p.Gln300Pro) c.*1755A>C (n.*1755A>C) n.3141A>C c.950A>C (p.Gln317Pro) c.3071A>C (p.Gln1024Pro) c.2342A>C (p.Gln781Pro) c.1502A>C (p.Gln501Pro) | |
| 16 | g.1523655G>A | CA394225426 | IFT140 | c.3316C>T (p.Gln1106Ter) c.898C>T (p.Gln300Ter) c.*1754C>T (n.*1754C>T) n.3140C>T c.949C>T (p.Gln317Ter) c.3070C>T (p.Gln1024Ter) c.2341C>T (p.Gln781Ter) c.1501C>T (p.Gln501Ter) | |
| 16 | g.1523655G>C | CA394225427 | IFT140 | c.3316C>G (p.Gln1106Glu) c.898C>G (p.Gln300Glu) c.*1754C>G (n.*1754C>G) n.3140C>G c.949C>G (p.Gln317Glu) c.3070C>G (p.Gln1024Glu) c.2341C>G (p.Gln781Glu) c.1501C>G (p.Gln501Glu) | |
| 16 | g.1523655G>T | CA394225428 | IFT140 | c.3316C>A (p.Gln1106Lys) c.898C>A (p.Gln300Lys) c.*1754C>A (n.*1754C>A) n.3140C>A c.949C>A (p.Gln317Lys) c.3070C>A (p.Gln1024Lys) c.2341C>A (p.Gln781Lys) c.1501C>A (p.Gln501Lys) | gnomAD v4 |
| 16 | g.1523656C>A | CA394225429 | IFT140 | c.3315G>T (p.Gln1105His) c.897G>T (p.Gln299His) c.*1753G>T (n.*1753G>T) n.3139G>T c.948G>T (p.Gln316His) c.3069G>T (p.Gln1023His) c.2340G>T (p.Gln780His) c.1500G>T (p.Gln500His) | |
| 16 | g.1523656C>G | CA394225430 | IFT140 | c.3315G>C (p.Gln1105His) c.897G>C (p.Gln299His) c.*1753G>C (n.*1753G>C) n.3139G>C c.948G>C (p.Gln316His) c.3069G>C (p.Gln1023His) c.2340G>C (p.Gln780His) c.1500G>C (p.Gln500His) | |
| 16 | g.1523656C>T | CA493032001 | IFT140 | c.3315G>A (p.Gln1105=) c.897G>A (p.Gln299=) c.*1753G>A (n.*1753G>A) n.3139G>A c.948G>A (p.Gln316=) c.3069G>A (p.Gln1023=) c.2340G>A (p.Gln780=) c.1500G>A (p.Gln500=) | |
| 16 | g.1523657T>A | CA394225431 | IFT140 | c.3314A>T (p.Gln1105Leu) c.896A>T (p.Gln299Leu) c.*1752A>T (n.*1752A>T) n.3138A>T c.947A>T (p.Gln316Leu) c.3068A>T (p.Gln1023Leu) c.2339A>T (p.Gln780Leu) c.1499A>T (p.Gln500Leu) | |
| 16 | g.1523657T>C | CA394225432 | IFT140 | c.3314A>G (p.Gln1105Arg) c.896A>G (p.Gln299Arg) c.*1752A>G (n.*1752A>G) n.3138A>G c.947A>G (p.Gln316Arg) c.3068A>G (p.Gln1023Arg) c.2339A>G (p.Gln780Arg) c.1499A>G (p.Gln500Arg) | |
| 16 | g.1523657T>G | CA394225433 | IFT140 | c.3314A>C (p.Gln1105Pro) c.896A>C (p.Gln299Pro) c.*1752A>C (n.*1752A>C) n.3138A>C c.947A>C (p.Gln316Pro) c.3068A>C (p.Gln1023Pro) c.2339A>C (p.Gln780Pro) c.1499A>C (p.Gln500Pro) | |
| 16 | g.1523658G>A | CA394225434 | IFT140 | c.3313C>T (p.Gln1105Ter) c.895C>T (p.Gln299Ter) c.*1751C>T (n.*1751C>T) n.3137C>T c.946C>T (p.Gln316Ter) c.3067C>T (p.Gln1023Ter) c.2338C>T (p.Gln780Ter) c.1498C>T (p.Gln500Ter) | ClinVar |
| 16 | g.1523658G>C | CA394225435 | IFT140 | c.3313C>G (p.Gln1105Glu) c.895C>G (p.Gln299Glu) c.*1751C>G (n.*1751C>G) n.3137C>G c.946C>G (p.Gln316Glu) c.3067C>G (p.Gln1023Glu) c.2338C>G (p.Gln780Glu) c.1498C>G (p.Gln500Glu) | |
| 16 | g.1523658G>T | CA394225436 | IFT140 | c.3313C>A (p.Gln1105Lys) c.895C>A (p.Gln299Lys) c.*1751C>A (n.*1751C>A) n.3137C>A c.946C>A (p.Gln316Lys) c.3067C>A (p.Gln1023Lys) c.2338C>A (p.Gln780Lys) c.1498C>A (p.Gln500Lys) | |
| 16 | g.1523659G>A | CA493032005 | IFT140 | c.3312C>T (p.Thr1104=) c.894C>T (p.Thr298=) c.*1750C>T (n.*1750C>T) n.3136C>T c.945C>T (p.Thr315=) c.3066C>T (p.Thr1022=) c.2337C>T (p.Thr779=) c.1497C>T (p.Thr499=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1523659G>C | CA493032003 | IFT140 | c.3312C>G (p.Thr1104=) c.894C>G (p.Thr298=) c.*1750C>G (n.*1750C>G) n.3136C>G c.945C>G (p.Thr315=) c.3066C>G (p.Thr1022=) c.2337C>G (p.Thr779=) c.1497C>G (p.Thr499=) | dbSNP |
| 16 | g.1523659G= | CA2201697829 | IFT140 | c.3312C= (p.Thr1104=) c.894C= (p.Thr298=) c.*1750C= (n.*1750C=) n.3136C= c.945C= (p.Thr315=) c.3066C= (p.Thr1022=) c.2337C= (p.Thr779=) c.1497C= (p.Thr499=) | |
| 16 | g.1523659G>T | CA493032004 | IFT140 | c.3312C>A (p.Thr1104=) c.894C>A (p.Thr298=) c.*1750C>A (n.*1750C>A) n.3136C>A c.945C>A (p.Thr315=) c.3066C>A (p.Thr1022=) c.2337C>A (p.Thr779=) c.1497C>A (p.Thr499=) | |
| 16 | g.1523660G>A | CA394225439 | IFT140 | c.3311C>T (p.Thr1104Ile) c.893C>T (p.Thr298Ile) c.*1749C>T (n.*1749C>T) n.3135C>T c.944C>T (p.Thr315Ile) c.3065C>T (p.Thr1022Ile) c.2336C>T (p.Thr779Ile) c.1496C>T (p.Thr499Ile) | COSMIC |
| 16 | g.1523660G>C | CA394225437 | IFT140 | c.3311C>G (p.Thr1104Ser) c.893C>G (p.Thr298Ser) c.*1749C>G (n.*1749C>G) n.3135C>G c.944C>G (p.Thr315Ser) c.3065C>G (p.Thr1022Ser) c.2336C>G (p.Thr779Ser) c.1496C>G (p.Thr499Ser) | |
| 16 | g.1523660G>T | CA394225438 | IFT140 | c.3311C>A (p.Thr1104Asn) c.893C>A (p.Thr298Asn) c.*1749C>A (n.*1749C>A) n.3135C>A c.944C>A (p.Thr315Asn) c.3065C>A (p.Thr1022Asn) c.2336C>A (p.Thr779Asn) c.1496C>A (p.Thr499Asn) | |
| 16 | g.1523661T>A | CA394225440 | IFT140 | c.3310A>T (p.Thr1104Ser) c.892A>T (p.Thr298Ser) c.*1748A>T (n.*1748A>T) n.3134A>T c.943A>T (p.Thr315Ser) c.3064A>T (p.Thr1022Ser) c.2335A>T (p.Thr779Ser) c.1495A>T (p.Thr499Ser) | |
| 16 | g.1523661T>C | CA394225441 | IFT140 | c.3310A>G (p.Thr1104Ala) c.892A>G (p.Thr298Ala) c.*1748A>G (n.*1748A>G) n.3134A>G c.943A>G (p.Thr315Ala) c.3064A>G (p.Thr1022Ala) c.2335A>G (p.Thr779Ala) c.1495A>G (p.Thr499Ala) | gnomAD v4 |
| 16 | g.1523661T>G | CA394225442 | IFT140 | c.3310A>C (p.Thr1104Pro) c.892A>C (p.Thr298Pro) c.*1748A>C (n.*1748A>C) n.3134A>C c.943A>C (p.Thr315Pro) c.3064A>C (p.Thr1022Pro) c.2335A>C (p.Thr779Pro) c.1495A>C (p.Thr499Pro) | gnomAD v4 |
| 16 | g.1523662G>A | CA493032010 | IFT140 | c.3309C>T (p.Ala1103=) c.891C>T (p.Ala297=) c.*1747C>T (n.*1747C>T) n.3133C>T c.942C>T (p.Ala314=) c.3063C>T (p.Ala1021=) c.2334C>T (p.Ala778=) c.1494C>T (p.Ala498=) | |
| 16 | g.1523662G>C | CA493032011 | IFT140 | c.3309C>G (p.Ala1103=) c.891C>G (p.Ala297=) c.*1747C>G (n.*1747C>G) n.3133C>G c.942C>G (p.Ala314=) c.3063C>G (p.Ala1021=) c.2334C>G (p.Ala778=) c.1494C>G (p.Ala498=) | |
| 16 | g.1523662G>T | CA493032012 | IFT140 | c.3309C>A (p.Ala1103=) c.891C>A (p.Ala297=) c.*1747C>A (n.*1747C>A) n.3133C>A c.942C>A (p.Ala314=) c.3063C>A (p.Ala1021=) c.2334C>A (p.Ala778=) c.1494C>A (p.Ala498=) | |
| 16 | g.1523663G>A | CA394225443 | IFT140 | c.3308C>T (p.Ala1103Val) c.890C>T (p.Ala297Val) c.*1746C>T (n.*1746C>T) n.3132C>T c.941C>T (p.Ala314Val) c.3062C>T (p.Ala1021Val) c.2333C>T (p.Ala778Val) c.1493C>T (p.Ala498Val) | |
| 16 | g.1523663G>C | CA394225444 | IFT140 | c.3308C>G (p.Ala1103Gly) c.890C>G (p.Ala297Gly) c.*1746C>G (n.*1746C>G) n.3132C>G c.941C>G (p.Ala314Gly) c.3062C>G (p.Ala1021Gly) c.2333C>G (p.Ala778Gly) c.1493C>G (p.Ala498Gly) | |
| 16 | g.1523663G>T | CA394225445 | IFT140 | c.3308C>A (p.Ala1103Asp) c.890C>A (p.Ala297Asp) c.*1746C>A (n.*1746C>A) n.3132C>A c.941C>A (p.Ala314Asp) c.3062C>A (p.Ala1021Asp) c.2333C>A (p.Ala778Asp) c.1493C>A (p.Ala498Asp) | |
| 16 | g.1523664C>A | CA394225446 | IFT140 | c.3307G>T (p.Ala1103Ser) c.889G>T (p.Ala297Ser) c.*1745G>T (n.*1745G>T) n.3131G>T c.940G>T (p.Ala314Ser) c.3061G>T (p.Ala1021Ser) c.2332G>T (p.Ala778Ser) c.1492G>T (p.Ala498Ser) | |
| 16 | g.1523664C= | CA2201697830 | IFT140 | c.3307G= (p.Ala1103=) c.889G= (p.Ala297=) c.*1745G= (n.*1745G=) n.3131G= c.940G= (p.Ala314=) c.3061G= (p.Ala1021=) c.2332G= (p.Ala778=) c.1492G= (p.Ala498=) | |
| 16 | g.1523664C>G | CA394225447 | IFT140 | c.3307G>C (p.Ala1103Pro) c.889G>C (p.Ala297Pro) c.*1745G>C (n.*1745G>C) n.3131G>C c.940G>C (p.Ala314Pro) c.3061G>C (p.Ala1021Pro) c.2332G>C (p.Ala778Pro) c.1492G>C (p.Ala498Pro) | |
| 16 | g.1523664C>T | CA394225448 | IFT140 | c.3307G>A (p.Ala1103Thr) c.889G>A (p.Ala297Thr) c.*1745G>A (n.*1745G>A) n.3131G>A c.940G>A (p.Ala314Thr) c.3061G>A (p.Ala1021Thr) c.2332G>A (p.Ala778Thr) c.1492G>A (p.Ala498Thr) | dbSNP |
| 16 | g.1523665A>C | CA394225449 | IFT140 | c.3306T>G (p.Phe1102Leu) c.888T>G (p.Phe296Leu) c.*1744T>G (n.*1744T>G) n.3130T>G c.939T>G (p.Phe313Leu) c.3060T>G (p.Phe1020Leu) c.2331T>G (p.Phe777Leu) c.1491T>G (p.Phe497Leu) | |
| 16 | g.1523665A>G | CA493032019 | IFT140 | c.3306T>C (p.Phe1102=) c.888T>C (p.Phe296=) c.*1744T>C (n.*1744T>C) n.3130T>C c.939T>C (p.Phe313=) c.3060T>C (p.Phe1020=) c.2331T>C (p.Phe777=) c.1491T>C (p.Phe497=) | |
| 16 | g.1523665A>T | CA394225450 | IFT140 | c.3306T>A (p.Phe1102Leu) c.888T>A (p.Phe296Leu) c.*1744T>A (n.*1744T>A) n.3130T>A c.939T>A (p.Phe313Leu) c.3060T>A (p.Phe1020Leu) c.2331T>A (p.Phe777Leu) c.1491T>A (p.Phe497Leu) | |
| 16 | g.1523667del | CA2631006258 | IFT140 | c.3306del (p.Phe1102LeufsTer12) c.888del (p.Phe296LeufsTer12) c.*1744del (n.*1744del) n.3130del c.939del (p.Phe313LeufsTer12) c.3060del (p.Phe1020LeufsTer12) c.2331del (p.Phe777LeufsTer12) c.1491del (p.Phe497LeufsTer12) | gnomAD v4 |
| 16 | g.1523666A>C | CA394225453 | IFT140 | c.3305T>G (p.Phe1102Cys) c.887T>G (p.Phe296Cys) c.*1743T>G (n.*1743T>G) n.3129T>G c.938T>G (p.Phe313Cys) c.3059T>G (p.Phe1020Cys) c.2330T>G (p.Phe777Cys) c.1490T>G (p.Phe497Cys) | |
| 16 | g.1523666A>G | CA394225452 | IFT140 | c.3305T>C (p.Phe1102Ser) c.887T>C (p.Phe296Ser) c.*1743T>C (n.*1743T>C) n.3129T>C c.938T>C (p.Phe313Ser) c.3059T>C (p.Phe1020Ser) c.2330T>C (p.Phe777Ser) c.1490T>C (p.Phe497Ser) | |
| 16 | g.1523666A>T | CA394225451 | IFT140 | c.3305T>A (p.Phe1102Tyr) c.887T>A (p.Phe296Tyr) c.*1743T>A (n.*1743T>A) n.3129T>A c.938T>A (p.Phe313Tyr) c.3059T>A (p.Phe1020Tyr) c.2330T>A (p.Phe777Tyr) c.1490T>A (p.Phe497Tyr) | |
| 16 | g.1523667A>C | CA394225454 | IFT140 | c.3304T>G (p.Phe1102Val) c.886T>G (p.Phe296Val) c.*1742T>G (n.*1742T>G) n.3128T>G c.937T>G (p.Phe313Val) c.3058T>G (p.Phe1020Val) c.2329T>G (p.Phe777Val) c.1489T>G (p.Phe497Val) | |
| 16 | g.1523667A>G | CA394225455 | IFT140 | c.3304T>C (p.Phe1102Leu) c.886T>C (p.Phe296Leu) c.*1742T>C (n.*1742T>C) n.3128T>C c.937T>C (p.Phe313Leu) c.3058T>C (p.Phe1020Leu) c.2329T>C (p.Phe777Leu) c.1489T>C (p.Phe497Leu) | |
| 16 | g.1523667A>T | CA394225456 | IFT140 | c.3304T>A (p.Phe1102Ile) c.886T>A (p.Phe296Ile) c.*1742T>A (n.*1742T>A) n.3128T>A c.937T>A (p.Phe313Ile) c.3058T>A (p.Phe1020Ile) c.2329T>A (p.Phe777Ile) c.1489T>A (p.Phe497Ile) | |
| 16 | g.1523668G>A | CA493032025 | IFT140 | c.3303C>T (p.Ala1101=) c.885C>T (p.Ala295=) c.*1741C>T (n.*1741C>T) n.3127C>T c.936C>T (p.Ala312=) c.3057C>T (p.Ala1019=) c.2328C>T (p.Ala776=) c.1488C>T (p.Ala496=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523668G>C | CA7813203 | IFT140 | c.3303C>G (p.Ala1101=) c.885C>G (p.Ala295=) c.*1741C>G (n.*1741C>G) n.3127C>G c.936C>G (p.Ala312=) c.3057C>G (p.Ala1019=) c.2328C>G (p.Ala776=) c.1488C>G (p.Ala496=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523668G= | CA2201697831 | IFT140 | c.3303C= (p.Ala1101=) c.885C= (p.Ala295=) c.*1741C= (n.*1741C=) n.3127C= c.936C= (p.Ala312=) c.3057C= (p.Ala1019=) c.2328C= (p.Ala776=) c.1488C= (p.Ala496=) | |
| 16 | g.1523668G>T | CA493032028 | IFT140 | c.3303C>A (p.Ala1101=) c.885C>A (p.Ala295=) c.*1741C>A (n.*1741C>A) n.3127C>A c.936C>A (p.Ala312=) c.3057C>A (p.Ala1019=) c.2328C>A (p.Ala776=) c.1488C>A (p.Ala496=) | |
| 16 | g.1523669G>A | CA7813204 | IFT140 | c.3302C>T (p.Ala1101Val) c.884C>T (p.Ala295Val) c.*1740C>T (n.*1740C>T) n.3126C>T c.935C>T (p.Ala312Val) c.3056C>T (p.Ala1019Val) c.2327C>T (p.Ala776Val) c.1487C>T (p.Ala496Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523669G>C | CA394225457 | IFT140 | c.3302C>G (p.Ala1101Gly) c.884C>G (p.Ala295Gly) c.*1740C>G (n.*1740C>G) n.3126C>G c.935C>G (p.Ala312Gly) c.3056C>G (p.Ala1019Gly) c.2327C>G (p.Ala776Gly) c.1487C>G (p.Ala496Gly) | COSMIC |
| 16 | g.1523669G= | CA2201697832 | IFT140 | c.3302C= (p.Ala1101=) c.884C= (p.Ala295=) c.*1740C= (n.*1740C=) n.3126C= c.935C= (p.Ala312=) c.3056C= (p.Ala1019=) c.2327C= (p.Ala776=) c.1487C= (p.Ala496=) | |
| 16 | g.1523669G>T | CA394225458 | IFT140 | c.3302C>A (p.Ala1101Asp) c.884C>A (p.Ala295Asp) c.*1740C>A (n.*1740C>A) n.3126C>A c.935C>A (p.Ala312Asp) c.3056C>A (p.Ala1019Asp) c.2327C>A (p.Ala776Asp) c.1487C>A (p.Ala496Asp) | |
| 16 | g.1523670C>A | CA394225459 | IFT140 | c.3301G>T (p.Ala1101Ser) c.883G>T (p.Ala295Ser) c.*1739G>T (n.*1739G>T) n.3125G>T c.934G>T (p.Ala312Ser) c.3055G>T (p.Ala1019Ser) c.2326G>T (p.Ala776Ser) c.1486G>T (p.Ala496Ser) | |
| 16 | g.1523670C= | CA2201697833 | IFT140 | c.3301G= (p.Ala1101=) c.883G= (p.Ala295=) c.*1739G= (n.*1739G=) n.3125G= c.934G= (p.Ala312=) c.3055G= (p.Ala1019=) c.2326G= (p.Ala776=) c.1486G= (p.Ala496=) | |
| 16 | g.1523670C>G | CA394225460 | IFT140 | c.3301G>C (p.Ala1101Pro) c.883G>C (p.Ala295Pro) c.*1739G>C (n.*1739G>C) n.3125G>C c.934G>C (p.Ala312Pro) c.3055G>C (p.Ala1019Pro) c.2326G>C (p.Ala776Pro) c.1486G>C (p.Ala496Pro) | |
| 16 | g.1523670C>T | CA7813205 | IFT140 | c.3301G>A (p.Ala1101Thr) c.883G>A (p.Ala295Thr) c.*1739G>A (n.*1739G>A) n.3125G>A c.934G>A (p.Ala312Thr) c.3055G>A (p.Ala1019Thr) c.2326G>A (p.Ala776Thr) c.1486G>A (p.Ala496Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523671C>A | CA493032030 | IFT140 | c.3300G>T (p.Leu1100=) c.882G>T (p.Leu294=) c.*1738G>T (n.*1738G>T) n.3124G>T c.933G>T (p.Leu311=) c.3054G>T (p.Leu1018=) c.2325G>T (p.Leu775=) c.1485G>T (p.Leu495=) | |
| 16 | g.1523671C>G | CA493032031 | IFT140 | c.3300G>C (p.Leu1100=) c.882G>C (p.Leu294=) c.*1738G>C (n.*1738G>C) n.3124G>C c.933G>C (p.Leu311=) c.3054G>C (p.Leu1018=) c.2325G>C (p.Leu775=) c.1485G>C (p.Leu495=) | |
| 16 | g.1523671C>T | CA493032032 | IFT140 | c.3300G>A (p.Leu1100=) c.882G>A (p.Leu294=) c.*1738G>A (n.*1738G>A) n.3124G>A c.933G>A (p.Leu311=) c.3054G>A (p.Leu1018=) c.2325G>A (p.Leu775=) c.1485G>A (p.Leu495=) | |
| 16 | g.1523672A= | CA2201697834 | IFT140 | c.3299T= (p.Leu1100=) c.881T= (p.Leu294=) c.*1737T= (n.*1737T=) n.3123T= c.932T= (p.Leu311=) c.3053T= (p.Leu1018=) c.2324T= (p.Leu775=) c.1484T= (p.Leu495=) | |
| 16 | g.1523672A>C | CA394225461 | IFT140 | c.3299T>G (p.Leu1100Arg) c.881T>G (p.Leu294Arg) c.*1737T>G (n.*1737T>G) n.3123T>G c.932T>G (p.Leu311Arg) c.3053T>G (p.Leu1018Arg) c.2324T>G (p.Leu775Arg) c.1484T>G (p.Leu495Arg) | |
| 16 | g.1523672A>G | CA394225462 | IFT140 | c.3299T>C (p.Leu1100Pro) c.881T>C (p.Leu294Pro) c.*1737T>C (n.*1737T>C) n.3123T>C c.932T>C (p.Leu311Pro) c.3053T>C (p.Leu1018Pro) c.2324T>C (p.Leu775Pro) c.1484T>C (p.Leu495Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523672A>T | CA394225463 | IFT140 | c.3299T>A (p.Leu1100Gln) c.881T>A (p.Leu294Gln) c.*1737T>A (n.*1737T>A) n.3123T>A c.932T>A (p.Leu311Gln) c.3053T>A (p.Leu1018Gln) c.2324T>A (p.Leu775Gln) c.1484T>A (p.Leu495Gln) | |
| 16 | g.1523673G>A | CA493032034 | IFT140 | c.3298C>T (p.Leu1100=) c.880C>T (p.Leu294=) c.*1736C>T (n.*1736C>T) n.3122C>T c.931C>T (p.Leu311=) c.3052C>T (p.Leu1018=) c.2323C>T (p.Leu775=) c.1483C>T (p.Leu495=) | |
| 16 | g.1523673G>C | CA394225465 | IFT140 | c.3298C>G (p.Leu1100Val) c.880C>G (p.Leu294Val) c.*1736C>G (n.*1736C>G) n.3122C>G c.931C>G (p.Leu311Val) c.3052C>G (p.Leu1018Val) c.2323C>G (p.Leu775Val) c.1483C>G (p.Leu495Val) | |
| 16 | g.1523673G>T | CA394225464 | IFT140 | c.3298C>A (p.Leu1100Met) c.880C>A (p.Leu294Met) c.*1736C>A (n.*1736C>A) n.3122C>A c.931C>A (p.Leu311Met) c.3052C>A (p.Leu1018Met) c.2323C>A (p.Leu775Met) c.1483C>A (p.Leu495Met) | |
| 16 | g.1523674C>A | CA394225466 | IFT140 | c.3297G>T (p.Glu1099Asp) c.879G>T (p.Glu293Asp) c.*1735G>T (n.*1735G>T) n.3121G>T c.930G>T (p.Glu310Asp) c.3051G>T (p.Glu1017Asp) c.2322G>T (p.Glu774Asp) c.1482G>T (p.Glu494Asp) | gnomAD v4 |
| 16 | g.1523674C>G | CA394225467 | IFT140 | c.3297G>C (p.Glu1099Asp) c.879G>C (p.Glu293Asp) c.*1735G>C (n.*1735G>C) n.3121G>C c.930G>C (p.Glu310Asp) c.3051G>C (p.Glu1017Asp) c.2322G>C (p.Glu774Asp) c.1482G>C (p.Glu494Asp) | |
| 16 | g.1523674C>T | CA493032035 | IFT140 | c.3297G>A (p.Glu1099=) c.879G>A (p.Glu293=) c.*1735G>A (n.*1735G>A) n.3121G>A c.930G>A (p.Glu310=) c.3051G>A (p.Glu1017=) c.2322G>A (p.Glu774=) c.1482G>A (p.Glu494=) | |
| 16 | g.1523675T>A | CA394225468 | IFT140 | c.3296A>T (p.Glu1099Val) c.878A>T (p.Glu293Val) c.*1734A>T (n.*1734A>T) n.3120A>T c.929A>T (p.Glu310Val) c.3050A>T (p.Glu1017Val) c.2321A>T (p.Glu774Val) c.1481A>T (p.Glu494Val) | |
| 16 | g.1523675T>C | CA394225469 | IFT140 | c.3296A>G (p.Glu1099Gly) c.878A>G (p.Glu293Gly) c.*1734A>G (n.*1734A>G) n.3120A>G c.929A>G (p.Glu310Gly) c.3050A>G (p.Glu1017Gly) c.2321A>G (p.Glu774Gly) c.1481A>G (p.Glu494Gly) | |
| 16 | g.1523675T>G | CA394225470 | IFT140 | c.3296A>C (p.Glu1099Ala) c.878A>C (p.Glu293Ala) c.*1734A>C (n.*1734A>C) n.3120A>C c.929A>C (p.Glu310Ala) c.3050A>C (p.Glu1017Ala) c.2321A>C (p.Glu774Ala) c.1481A>C (p.Glu494Ala) | |
| 16 | g.1523676C>A | CA394225471 | IFT140 | c.3295G>T (p.Glu1099Ter) c.877G>T (p.Glu293Ter) c.*1733G>T (n.*1733G>T) n.3119G>T c.928G>T (p.Glu310Ter) c.3049G>T (p.Glu1017Ter) c.2320G>T (p.Glu774Ter) c.1480G>T (p.Glu494Ter) | |
| 16 | g.1523676C>G | CA394225472 | IFT140 | c.3295G>C (p.Glu1099Gln) c.877G>C (p.Glu293Gln) c.*1733G>C (n.*1733G>C) n.3119G>C c.928G>C (p.Glu310Gln) c.3049G>C (p.Glu1017Gln) c.2320G>C (p.Glu774Gln) c.1480G>C (p.Glu494Gln) | |
| 16 | g.1523676C>T | CA394225473 | IFT140 | c.3295G>A (p.Glu1099Lys) c.877G>A (p.Glu293Lys) c.*1733G>A (n.*1733G>A) n.3119G>A c.928G>A (p.Glu310Lys) c.3049G>A (p.Glu1017Lys) c.2320G>A (p.Glu774Lys) c.1480G>A (p.Glu494Lys) | |
| 16 | g.1523677C>A | CA493032039 | IFT140 | c.3294G>T (p.Leu1098=) c.876G>T (p.Leu292=) c.*1732G>T (n.*1732G>T) n.3118G>T c.927G>T (p.Leu309=) c.3048G>T (p.Leu1016=) c.2319G>T (p.Leu773=) c.1479G>T (p.Leu493=) | |
| 16 | g.1523677C>G | CA493032040 | IFT140 | c.3294G>C (p.Leu1098=) c.876G>C (p.Leu292=) c.*1732G>C (n.*1732G>C) n.3118G>C c.927G>C (p.Leu309=) c.3048G>C (p.Leu1016=) c.2319G>C (p.Leu773=) c.1479G>C (p.Leu493=) | |
| 16 | g.1523677C>T | CA493032041 | IFT140 | c.3294G>A (p.Leu1098=) c.876G>A (p.Leu292=) c.*1732G>A (n.*1732G>A) n.3118G>A c.927G>A (p.Leu309=) c.3048G>A (p.Leu1016=) c.2319G>A (p.Leu773=) c.1479G>A (p.Leu493=) | gnomAD v4 |
| 16 | g.1523678A>C | CA394225474 | IFT140 | c.3293T>G (p.Leu1098Arg) c.875T>G (p.Leu292Arg) c.*1731T>G (n.*1731T>G) n.3117T>G c.926T>G (p.Leu309Arg) c.3047T>G (p.Leu1016Arg) c.2318T>G (p.Leu773Arg) c.1478T>G (p.Leu493Arg) | |
| 16 | g.1523678A>G | CA394225475 | IFT140 | c.3293T>C (p.Leu1098Pro) c.875T>C (p.Leu292Pro) c.*1731T>C (n.*1731T>C) n.3117T>C c.926T>C (p.Leu309Pro) c.3047T>C (p.Leu1016Pro) c.2318T>C (p.Leu773Pro) c.1478T>C (p.Leu493Pro) | |
| 16 | g.1523678A>T | CA394225476 | IFT140 | c.3293T>A (p.Leu1098Gln) c.875T>A (p.Leu292Gln) c.*1731T>A (n.*1731T>A) n.3117T>A c.926T>A (p.Leu309Gln) c.3047T>A (p.Leu1016Gln) c.2318T>A (p.Leu773Gln) c.1478T>A (p.Leu493Gln) | |
| 16 | g.1523679G>A | CA493032042 | IFT140 | c.3292C>T (p.Leu1098=) c.874C>T (p.Leu292=) c.*1730C>T (n.*1730C>T) n.3116C>T c.925C>T (p.Leu309=) c.3046C>T (p.Leu1016=) c.2317C>T (p.Leu773=) c.1477C>T (p.Leu493=) | |
| 16 | g.1523679G>C | CA394225477 | IFT140 | c.3292C>G (p.Leu1098Val) c.874C>G (p.Leu292Val) c.*1730C>G (n.*1730C>G) n.3116C>G c.925C>G (p.Leu309Val) c.3046C>G (p.Leu1016Val) c.2317C>G (p.Leu773Val) c.1477C>G (p.Leu493Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523679G= | CA2201697835 | IFT140 | c.3292C= (p.Leu1098=) c.874C= (p.Leu292=) c.*1730C= (n.*1730C=) n.3116C= c.925C= (p.Leu309=) c.3046C= (p.Leu1016=) c.2317C= (p.Leu773=) c.1477C= (p.Leu493=) | |
| 16 | g.1523679G>T | CA394225478 | IFT140 | c.3292C>A (p.Leu1098Met) c.874C>A (p.Leu292Met) c.*1730C>A (n.*1730C>A) n.3116C>A c.925C>A (p.Leu309Met) c.3046C>A (p.Leu1016Met) c.2317C>A (p.Leu773Met) c.1477C>A (p.Leu493Met) | |
| 16 | g.1523680G>A | CA493032044 | IFT140 | c.3291C>T (p.Ala1097=) c.873C>T (p.Ala291=) c.*1729C>T (n.*1729C>T) n.3115C>T c.924C>T (p.Ala308=) c.3045C>T (p.Ala1015=) c.2316C>T (p.Ala772=) c.1476C>T (p.Ala492=) | dbSNP |
| 16 | g.1523680G>C | CA493032045 | IFT140 | c.3291C>G (p.Ala1097=) c.873C>G (p.Ala291=) c.*1729C>G (n.*1729C>G) n.3115C>G c.924C>G (p.Ala308=) c.3045C>G (p.Ala1015=) c.2316C>G (p.Ala772=) c.1476C>G (p.Ala492=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1523680G= | CA2201697836 | IFT140 | c.3291C= (p.Ala1097=) c.873C= (p.Ala291=) c.*1729C= (n.*1729C=) n.3115C= c.924C= (p.Ala308=) c.3045C= (p.Ala1015=) c.2316C= (p.Ala772=) c.1476C= (p.Ala492=) | |
| 16 | g.1523680G>T | CA493032046 | IFT140 | c.3291C>A (p.Ala1097=) c.873C>A (p.Ala291=) c.*1729C>A (n.*1729C>A) n.3115C>A c.924C>A (p.Ala308=) c.3045C>A (p.Ala1015=) c.2316C>A (p.Ala772=) c.1476C>A (p.Ala492=) | |
| 16 | g.1523681G>A | CA394225480 | IFT140 | c.3290C>T (p.Ala1097Val) c.872C>T (p.Ala291Val) c.*1728C>T (n.*1728C>T) n.3114C>T c.923C>T (p.Ala308Val) c.3044C>T (p.Ala1015Val) c.2315C>T (p.Ala772Val) c.1475C>T (p.Ala492Val) | dbSNP |
| 16 | g.1523681G>C | CA394225481 | IFT140 | c.3290C>G (p.Ala1097Gly) c.872C>G (p.Ala291Gly) c.*1728C>G (n.*1728C>G) n.3114C>G c.923C>G (p.Ala308Gly) c.3044C>G (p.Ala1015Gly) c.2315C>G (p.Ala772Gly) c.1475C>G (p.Ala492Gly) | |
| 16 | g.1523681G= | CA2201697837 | IFT140 | c.3290C= (p.Ala1097=) c.872C= (p.Ala291=) c.*1728C= (n.*1728C=) n.3114C= c.923C= (p.Ala308=) c.3044C= (p.Ala1015=) c.2315C= (p.Ala772=) c.1475C= (p.Ala492=) | |
| 16 | g.1523681G>T | CA394225479 | IFT140 | c.3290C>A (p.Ala1097Asp) c.872C>A (p.Ala291Asp) c.*1728C>A (n.*1728C>A) n.3114C>A c.923C>A (p.Ala308Asp) c.3044C>A (p.Ala1015Asp) c.2315C>A (p.Ala772Asp) c.1475C>A (p.Ala492Asp) | |
| 16 | g.1523682C>A | CA394225482 | IFT140 | c.3289G>T (p.Ala1097Ser) c.871G>T (p.Ala291Ser) c.*1727G>T (n.*1727G>T) n.3113G>T c.922G>T (p.Ala308Ser) c.3043G>T (p.Ala1015Ser) c.2314G>T (p.Ala772Ser) c.1474G>T (p.Ala492Ser) | COSMIC |
| 16 | g.1523682C= | CA2201697838 | IFT140 | c.3289G= (p.Ala1097=) c.871G= (p.Ala291=) c.*1727G= (n.*1727G=) n.3113G= c.922G= (p.Ala308=) c.3043G= (p.Ala1015=) c.2314G= (p.Ala772=) c.1474G= (p.Ala492=) | |
| 16 | g.1523682C>G | CA394225484 | IFT140 | c.3289G>C (p.Ala1097Pro) c.871G>C (p.Ala291Pro) c.*1727G>C (n.*1727G>C) n.3113G>C c.922G>C (p.Ala308Pro) c.3043G>C (p.Ala1015Pro) c.2314G>C (p.Ala772Pro) c.1474G>C (p.Ala492Pro) | |
| 16 | g.1523682C>T | CA394225483 | IFT140 | c.3289G>A (p.Ala1097Thr) c.871G>A (p.Ala291Thr) c.*1727G>A (n.*1727G>A) n.3113G>A c.922G>A (p.Ala308Thr) c.3043G>A (p.Ala1015Thr) c.2314G>A (p.Ala772Thr) c.1474G>A (p.Ala492Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.1523683C>A | CA394225485 | IFT140 | c.3288G>T (p.Lys1096Asn) c.870G>T (p.Lys290Asn) c.*1726G>T (n.*1726G>T) n.3112G>T c.921G>T (p.Lys307Asn) c.3042G>T (p.Lys1014Asn) c.2313G>T (p.Lys771Asn) c.1473G>T (p.Lys491Asn) | |
| 16 | g.1523683C= | CA2201697839 | IFT140 | c.3288G= (p.Lys1096=) c.870G= (p.Lys290=) c.*1726G= (n.*1726G=) n.3112G= c.921G= (p.Lys307=) c.3042G= (p.Lys1014=) c.2313G= (p.Lys771=) c.1473G= (p.Lys491=) | |
| 16 | g.1523683C>G | CA394225486 | IFT140 | c.3288G>C (p.Lys1096Asn) c.870G>C (p.Lys290Asn) c.*1726G>C (n.*1726G>C) n.3112G>C c.921G>C (p.Lys307Asn) c.3042G>C (p.Lys1014Asn) c.2313G>C (p.Lys771Asn) c.1473G>C (p.Lys491Asn) | |
| 16 | g.1523683C>T | CA493032052 | IFT140 | c.3288G>A (p.Lys1096=) c.870G>A (p.Lys290=) c.*1726G>A (n.*1726G>A) n.3112G>A c.921G>A (p.Lys307=) c.3042G>A (p.Lys1014=) c.2313G>A (p.Lys771=) c.1473G>A (p.Lys491=) | dbSNP |
| 16 | g.1523684T>A | CA394225487 | IFT140 | c.3287A>T (p.Lys1096Met) c.869A>T (p.Lys290Met) c.*1725A>T (n.*1725A>T) n.3111A>T c.920A>T (p.Lys307Met) c.3041A>T (p.Lys1014Met) c.2312A>T (p.Lys771Met) c.1472A>T (p.Lys491Met) | |
| 16 | g.1523684T>C | CA394225488 | IFT140 | c.3287A>G (p.Lys1096Arg) c.869A>G (p.Lys290Arg) c.*1725A>G (n.*1725A>G) n.3111A>G c.920A>G (p.Lys307Arg) c.3041A>G (p.Lys1014Arg) c.2312A>G (p.Lys771Arg) c.1472A>G (p.Lys491Arg) | gnomAD v4 |
| 16 | g.1523684T>G | CA394225489 | IFT140 | c.3287A>C (p.Lys1096Thr) c.869A>C (p.Lys290Thr) c.*1725A>C (n.*1725A>C) n.3111A>C c.920A>C (p.Lys307Thr) c.3041A>C (p.Lys1014Thr) c.2312A>C (p.Lys771Thr) c.1472A>C (p.Lys491Thr) | |
| 16 | g.1523685T>A | CA394225490 | IFT140 | c.3286A>T (p.Lys1096Ter) c.868A>T (p.Lys290Ter) c.*1724A>T (n.*1724A>T) n.3110A>T c.919A>T (p.Lys307Ter) c.3040A>T (p.Lys1014Ter) c.2311A>T (p.Lys771Ter) c.1471A>T (p.Lys491Ter) | |
| 16 | g.1523685T>C | CA394225491 | IFT140 | c.3286A>G (p.Lys1096Glu) c.868A>G (p.Lys290Glu) c.*1724A>G (n.*1724A>G) n.3110A>G c.919A>G (p.Lys307Glu) c.3040A>G (p.Lys1014Glu) c.2311A>G (p.Lys771Glu) c.1471A>G (p.Lys491Glu) | |
| 16 | g.1523685T>G | CA394225492 | IFT140 | c.3286A>C (p.Lys1096Gln) c.868A>C (p.Lys290Gln) c.*1724A>C (n.*1724A>C) n.3110A>C c.919A>C (p.Lys307Gln) c.3040A>C (p.Lys1014Gln) c.2311A>C (p.Lys771Gln) c.1471A>C (p.Lys491Gln) | |
| 16 | g.1523686G>A | CA493032058 | IFT140 | c.3285C>T (p.Ser1095=) c.867C>T (p.Ser289=) c.*1723C>T (n.*1723C>T) n.3109C>T c.918C>T (p.Ser306=) c.3039C>T (p.Ser1013=) c.2310C>T (p.Ser770=) c.1470C>T (p.Ser490=) | |
| 16 | g.1523686G>C | CA493032060 | IFT140 | c.3285C>G (p.Ser1095=) c.867C>G (p.Ser289=) c.*1723C>G (n.*1723C>G) n.3109C>G c.918C>G (p.Ser306=) c.3039C>G (p.Ser1013=) c.2310C>G (p.Ser770=) c.1470C>G (p.Ser490=) | |
| 16 | g.1523686G>T | CA493032059 | IFT140 | c.3285C>A (p.Ser1095=) c.867C>A (p.Ser289=) c.*1723C>A (n.*1723C>A) n.3109C>A c.918C>A (p.Ser306=) c.3039C>A (p.Ser1013=) c.2310C>A (p.Ser770=) c.1470C>A (p.Ser490=) | |
| 16 | g.1523687G>A | CA394225493 | IFT140 | c.3284C>T (p.Ser1095Phe) c.866C>T (p.Ser289Phe) c.*1722C>T (n.*1722C>T) n.3108C>T c.917C>T (p.Ser306Phe) c.3038C>T (p.Ser1013Phe) c.2309C>T (p.Ser770Phe) c.1469C>T (p.Ser490Phe) | |
| 16 | g.1523687G>C | CA394225494 | IFT140 | c.3284C>G (p.Ser1095Cys) c.866C>G (p.Ser289Cys) c.*1722C>G (n.*1722C>G) n.3108C>G c.917C>G (p.Ser306Cys) c.3038C>G (p.Ser1013Cys) c.2309C>G (p.Ser770Cys) c.1469C>G (p.Ser490Cys) | |
| 16 | g.1523687G>T | CA394225495 | IFT140 | c.3284C>A (p.Ser1095Tyr) c.866C>A (p.Ser289Tyr) c.*1722C>A (n.*1722C>A) n.3108C>A c.917C>A (p.Ser306Tyr) c.3038C>A (p.Ser1013Tyr) c.2309C>A (p.Ser770Tyr) c.1469C>A (p.Ser490Tyr) | |
| 16 | g.1523688A>C | CA394225496 | IFT140 | c.3283T>G (p.Ser1095Ala) c.865T>G (p.Ser289Ala) c.*1721T>G (n.*1721T>G) n.3107T>G c.916T>G (p.Ser306Ala) c.3037T>G (p.Ser1013Ala) c.2308T>G (p.Ser770Ala) c.1468T>G (p.Ser490Ala) | |
| 16 | g.1523688A>G | CA394225497 | IFT140 | c.3283T>C (p.Ser1095Pro) c.865T>C (p.Ser289Pro) c.*1721T>C (n.*1721T>C) n.3107T>C c.916T>C (p.Ser306Pro) c.3037T>C (p.Ser1013Pro) c.2308T>C (p.Ser770Pro) c.1468T>C (p.Ser490Pro) | |
| 16 | g.1523688A>T | CA394225498 | IFT140 | c.3283T>A (p.Ser1095Thr) c.865T>A (p.Ser289Thr) c.*1721T>A (n.*1721T>A) n.3107T>A c.916T>A (p.Ser306Thr) c.3037T>A (p.Ser1013Thr) c.2308T>A (p.Ser770Thr) c.1468T>A (p.Ser490Thr) | |
| 16 | g.1523689G>A | CA493032063 | IFT140 | c.3282C>T (p.Phe1094=) c.864C>T (p.Phe288=) c.*1720C>T (n.*1720C>T) n.3106C>T c.915C>T (p.Phe305=) c.3036C>T (p.Phe1012=) c.2307C>T (p.Phe769=) c.1467C>T (p.Phe489=) | |
| 16 | g.1523689G>C | CA394225499 | IFT140 | c.3282C>G (p.Phe1094Leu) c.864C>G (p.Phe288Leu) c.*1720C>G (n.*1720C>G) n.3106C>G c.915C>G (p.Phe305Leu) c.3036C>G (p.Phe1012Leu) c.2307C>G (p.Phe769Leu) c.1467C>G (p.Phe489Leu) | |
| 16 | g.1523689G>T | CA394225500 | IFT140 | c.3282C>A (p.Phe1094Leu) c.864C>A (p.Phe288Leu) c.*1720C>A (n.*1720C>A) n.3106C>A c.915C>A (p.Phe305Leu) c.3036C>A (p.Phe1012Leu) c.2307C>A (p.Phe769Leu) c.1467C>A (p.Phe489Leu) | gnomAD v4 |