| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1515634_1521302dup | CA2580613358 | IFT140 | c.3454-488_4182+2588dup c.1036-488_1764+2588dup c.*1892-488_*2620+2588dup n.3278-488_4006+2588dup c.1087-488_1815+2588dup c.3208-488_3936+2588dup c.2479-488_3207+2588dup c.1639-488_2367+2588dup | |
| 16 | g.1519144_1521811delinsG | CA658798459 | IFT140 | c.3454-1003_4040+737delinsC c.1036-1003_1622+737delinsC c.*1892-1003_*2478+737delinsC n.3278-1003_3864+737delinsC c.1087-1003_1673+737delinsC c.3208-1003_3794+737delinsC c.2479-1003_3065+737delinsC c.1639-1003_2225+737delinsC | ClinVar |
| 16 | g.1520761G>A | CA7813134 | IFT140 | c.3501C>T (p.Thr1167=) c.1083C>T (p.Thr361=) c.*1939C>T (n.*1939C>T) n.3325C>T c.1134C>T (p.Thr378=) c.3255C>T (p.Thr1085=) c.2526C>T (p.Thr842=) c.1686C>T (p.Thr562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520761G>C | CA492931927 | IFT140 | c.3501C>G (p.Thr1167=) c.1083C>G (p.Thr361=) c.*1939C>G (n.*1939C>G) n.3325C>G c.1134C>G (p.Thr378=) c.3255C>G (p.Thr1085=) c.2526C>G (p.Thr842=) c.1686C>G (p.Thr562=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520761G= | CA2201723760 | IFT140 | c.3501C= (p.Thr1167=) c.1083C= (p.Thr361=) c.*1939C= (n.*1939C=) n.3325C= c.1134C= (p.Thr378=) c.3255C= (p.Thr1085=) c.2526C= (p.Thr842=) c.1686C= (p.Thr562=) | |
| 16 | g.1520761G>T | CA492931926 | IFT140 | c.3501C>A (p.Thr1167=) c.1083C>A (p.Thr361=) c.*1939C>A (n.*1939C>A) n.3325C>A c.1134C>A (p.Thr378=) c.3255C>A (p.Thr1085=) c.2526C>A (p.Thr842=) c.1686C>A (p.Thr562=) | |
| 16 | g.1520762G>A | CA394225020 | IFT140 | c.3500C>T (p.Thr1167Ile) c.1082C>T (p.Thr361Ile) c.*1938C>T (n.*1938C>T) n.3324C>T c.1133C>T (p.Thr378Ile) c.3254C>T (p.Thr1085Ile) c.2525C>T (p.Thr842Ile) c.1685C>T (p.Thr562Ile) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1520762G>C | CA394225021 | IFT140 | c.3500C>G (p.Thr1167Ser) c.1082C>G (p.Thr361Ser) c.*1938C>G (n.*1938C>G) n.3324C>G c.1133C>G (p.Thr378Ser) c.3254C>G (p.Thr1085Ser) c.2525C>G (p.Thr842Ser) c.1685C>G (p.Thr562Ser) | |
| 16 | g.1520762G= | CA2201723761 | IFT140 | c.3500C= (p.Thr1167=) c.1082C= (p.Thr361=) c.*1938C= (n.*1938C=) n.3324C= c.1133C= (p.Thr378=) c.3254C= (p.Thr1085=) c.2525C= (p.Thr842=) c.1685C= (p.Thr562=) | |
| 16 | g.1520762G>T | CA394225022 | IFT140 | c.3500C>A (p.Thr1167Asn) c.1082C>A (p.Thr361Asn) c.*1938C>A (n.*1938C>A) n.3324C>A c.1133C>A (p.Thr378Asn) c.3254C>A (p.Thr1085Asn) c.2525C>A (p.Thr842Asn) c.1685C>A (p.Thr562Asn) | |
| 16 | g.1520763T>A | CA394225023 | IFT140 | c.3499A>T (p.Thr1167Ser) c.1081A>T (p.Thr361Ser) c.*1937A>T (n.*1937A>T) n.3323A>T c.1132A>T (p.Thr378Ser) c.3253A>T (p.Thr1085Ser) c.2524A>T (p.Thr842Ser) c.1684A>T (p.Thr562Ser) | |
| 16 | g.1520763T>C | CA394225024 | IFT140 | c.3499A>G (p.Thr1167Ala) c.1081A>G (p.Thr361Ala) c.*1937A>G (n.*1937A>G) n.3323A>G c.1132A>G (p.Thr378Ala) c.3253A>G (p.Thr1085Ala) c.2524A>G (p.Thr842Ala) c.1684A>G (p.Thr562Ala) | ClinVar dbSNP gnomAD v2 |
| 16 | g.1520763T>G | CA394225025 | IFT140 | c.3499A>C (p.Thr1167Pro) c.1081A>C (p.Thr361Pro) c.*1937A>C (n.*1937A>C) n.3323A>C c.1132A>C (p.Thr378Pro) c.3253A>C (p.Thr1085Pro) c.2524A>C (p.Thr842Pro) c.1684A>C (p.Thr562Pro) | |
| 16 | g.1520763T= | CA2201723762 | IFT140 | c.3499A= (p.Thr1167=) c.1081A= (p.Thr361=) c.*1937A= (n.*1937A=) n.3323A= c.1132A= (p.Thr378=) c.3253A= (p.Thr1085=) c.2524A= (p.Thr842=) c.1684A= (p.Thr562=) | |
| 16 | g.1520764G>A | CA492931930 | IFT140 | c.3498C>T (p.Ile1166=) c.1080C>T (p.Ile360=) c.*1936C>T (n.*1936C>T) n.3322C>T c.1131C>T (p.Ile377=) c.3252C>T (p.Ile1084=) c.2523C>T (p.Ile841=) c.1683C>T (p.Ile561=) | gnomAD v4 |
| 16 | g.1520764G>C | CA394225026 | IFT140 | c.3498C>G (p.Ile1166Met) c.1080C>G (p.Ile360Met) c.*1936C>G (n.*1936C>G) n.3322C>G c.1131C>G (p.Ile377Met) c.3252C>G (p.Ile1084Met) c.2523C>G (p.Ile841Met) c.1683C>G (p.Ile561Met) | |
| 16 | g.1520764G>T | CA492931929 | IFT140 | c.3498C>A (p.Ile1166=) c.1080C>A (p.Ile360=) c.*1936C>A (n.*1936C>A) n.3322C>A c.1131C>A (p.Ile377=) c.3252C>A (p.Ile1084=) c.2523C>A (p.Ile841=) c.1683C>A (p.Ile561=) | gnomAD v4 |
| 16 | g.1520765A= | CA2201723763 | IFT140 | c.3497T= (p.Ile1166=) c.1079T= (p.Ile360=) c.*1935T= (n.*1935T=) n.3321T= c.1130T= (p.Ile377=) c.3251T= (p.Ile1084=) c.2522T= (p.Ile841=) c.1682T= (p.Ile561=) | |
| 16 | g.1520765A>C | CA394225027 | IFT140 | c.3497T>G (p.Ile1166Ser) c.1079T>G (p.Ile360Ser) c.*1935T>G (n.*1935T>G) n.3321T>G c.1130T>G (p.Ile377Ser) c.3251T>G (p.Ile1084Ser) c.2522T>G (p.Ile841Ser) c.1682T>G (p.Ile561Ser) | |
| 16 | g.1520765A>G | CA394225028 | IFT140 | c.3497T>C (p.Ile1166Thr) c.1079T>C (p.Ile360Thr) c.*1935T>C (n.*1935T>C) n.3321T>C c.1130T>C (p.Ile377Thr) c.3251T>C (p.Ile1084Thr) c.2522T>C (p.Ile841Thr) c.1682T>C (p.Ile561Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520765A>T | CA394225029 | IFT140 | c.3497T>A (p.Ile1166Asn) c.1079T>A (p.Ile360Asn) c.*1935T>A (n.*1935T>A) n.3321T>A c.1130T>A (p.Ile377Asn) c.3251T>A (p.Ile1084Asn) c.2522T>A (p.Ile841Asn) c.1682T>A (p.Ile561Asn) | |
| 16 | g.1520766T>A | CA394225031 | IFT140 | c.3496A>T (p.Ile1166Phe) c.1078A>T (p.Ile360Phe) c.*1934A>T (n.*1934A>T) n.3320A>T c.1129A>T (p.Ile377Phe) c.3250A>T (p.Ile1084Phe) c.2521A>T (p.Ile841Phe) c.1681A>T (p.Ile561Phe) | gnomAD v4 |
| 16 | g.1520766T>C | CA7813135 | IFT140 | c.3496A>G (p.Ile1166Val) c.1078A>G (p.Ile360Val) c.*1934A>G (n.*1934A>G) n.3320A>G c.1129A>G (p.Ile377Val) c.3250A>G (p.Ile1084Val) c.2521A>G (p.Ile841Val) c.1681A>G (p.Ile561Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520766T>G | CA394225030 | IFT140 | c.3496A>C (p.Ile1166Leu) c.1078A>C (p.Ile360Leu) c.*1934A>C (n.*1934A>C) n.3320A>C c.1129A>C (p.Ile377Leu) c.3250A>C (p.Ile1084Leu) c.2521A>C (p.Ile841Leu) c.1681A>C (p.Ile561Leu) | |
| 16 | g.1520766T= | CA2201723764 | IFT140 | c.3496A= (p.Ile1166=) c.1078A= (p.Ile360=) c.*1934A= (n.*1934A=) n.3320A= c.1129A= (p.Ile377=) c.3250A= (p.Ile1084=) c.2521A= (p.Ile841=) c.1681A= (p.Ile561=) | |
| 16 | g.1520767G>A | CA492931934 | IFT140 | c.3495C>T (p.Ser1165=) c.1077C>T (p.Ser359=) c.*1933C>T (n.*1933C>T) n.3319C>T c.1128C>T (p.Ser376=) c.3249C>T (p.Ser1083=) c.2520C>T (p.Ser840=) c.1680C>T (p.Ser560=) | gnomAD v4 |
| 16 | g.1520767G>C | CA394225032 | IFT140 | c.3495C>G (p.Ser1165Arg) c.1077C>G (p.Ser359Arg) c.*1933C>G (n.*1933C>G) n.3319C>G c.1128C>G (p.Ser376Arg) c.3249C>G (p.Ser1083Arg) c.2520C>G (p.Ser840Arg) c.1680C>G (p.Ser560Arg) | |
| 16 | g.1520767G>T | CA394225033 | IFT140 | c.3495C>A (p.Ser1165Arg) c.1077C>A (p.Ser359Arg) c.*1933C>A (n.*1933C>A) n.3319C>A c.1128C>A (p.Ser376Arg) c.3249C>A (p.Ser1083Arg) c.2520C>A (p.Ser840Arg) c.1680C>A (p.Ser560Arg) | |
| 16 | g.1520768C>A | CA394225034 | IFT140 | c.3494G>T (p.Ser1165Ile) c.1076G>T (p.Ser359Ile) c.*1932G>T (n.*1932G>T) n.3318G>T c.1127G>T (p.Ser376Ile) c.3248G>T (p.Ser1083Ile) c.2519G>T (p.Ser840Ile) c.1679G>T (p.Ser560Ile) | gnomAD v4 |
| 16 | g.1520768C>G | CA394225035 | IFT140 | c.3494G>C (p.Ser1165Thr) c.1076G>C (p.Ser359Thr) c.*1932G>C (n.*1932G>C) n.3318G>C c.1127G>C (p.Ser376Thr) c.3248G>C (p.Ser1083Thr) c.2519G>C (p.Ser840Thr) c.1679G>C (p.Ser560Thr) | |
| 16 | g.1520768C>T | CA394225036 | IFT140 | c.3494G>A (p.Ser1165Asn) c.1076G>A (p.Ser359Asn) c.*1932G>A (n.*1932G>A) n.3318G>A c.1127G>A (p.Ser376Asn) c.3248G>A (p.Ser1083Asn) c.2519G>A (p.Ser840Asn) c.1679G>A (p.Ser560Asn) | gnomAD v4 |
| 16 | g.1520769del | CA2631006494 | IFT140 | c.3493del (p.Ser1165AlafsTer10) c.1075del (p.Ser359AlafsTer10) c.*1931del (n.*1931del) n.3317del c.1126del (p.Ser376AlafsTer10) c.3247del (p.Ser1083AlafsTer10) c.2518del (p.Ser840AlafsTer10) c.1678del (p.Ser560AlafsTer10) | gnomAD v4 |
| 16 | g.1520769T>A | CA394225037 | IFT140 | c.3493A>T (p.Ser1165Cys) c.1075A>T (p.Ser359Cys) c.*1931A>T (n.*1931A>T) n.3317A>T c.1126A>T (p.Ser376Cys) c.3247A>T (p.Ser1083Cys) c.2518A>T (p.Ser840Cys) c.1678A>T (p.Ser560Cys) | |
| 16 | g.1520769T>C | CA394225038 | IFT140 | c.3493A>G (p.Ser1165Gly) c.1075A>G (p.Ser359Gly) c.*1931A>G (n.*1931A>G) n.3317A>G c.1126A>G (p.Ser376Gly) c.3247A>G (p.Ser1083Gly) c.2518A>G (p.Ser840Gly) c.1678A>G (p.Ser560Gly) | gnomAD v4 |
| 16 | g.1520769T>G | CA394225039 | IFT140 | c.3493A>C (p.Ser1165Arg) c.1075A>C (p.Ser359Arg) c.*1931A>C (n.*1931A>C) n.3317A>C c.1126A>C (p.Ser376Arg) c.3247A>C (p.Ser1083Arg) c.2518A>C (p.Ser840Arg) c.1678A>C (p.Ser560Arg) | |
| 16 | g.1520770C>A | CA394225040 | IFT140 | c.3492G>T (p.Met1164Ile) c.1074G>T (p.Met358Ile) c.*1930G>T (n.*1930G>T) n.3316G>T c.1125G>T (p.Met375Ile) c.3246G>T (p.Met1082Ile) c.2517G>T (p.Met839Ile) c.1677G>T (p.Met559Ile) | |
| 16 | g.1520770C= | CA2201723765 | IFT140 | c.3492G= (p.Met1164=) c.1074G= (p.Met358=) c.*1930G= (n.*1930G=) n.3316G= c.1125G= (p.Met375=) c.3246G= (p.Met1082=) c.2517G= (p.Met839=) c.1677G= (p.Met559=) | |
| 16 | g.1520770C>G | CA394225041 | IFT140 | c.3492G>C (p.Met1164Ile) c.1074G>C (p.Met358Ile) c.*1930G>C (n.*1930G>C) n.3316G>C c.1125G>C (p.Met375Ile) c.3246G>C (p.Met1082Ile) c.2517G>C (p.Met839Ile) c.1677G>C (p.Met559Ile) | |
| 16 | g.1520770C>T | CA394225042 | IFT140 | c.3492G>A (p.Met1164Ile) c.1074G>A (p.Met358Ile) c.*1930G>A (n.*1930G>A) n.3316G>A c.1125G>A (p.Met375Ile) c.3246G>A (p.Met1082Ile) c.2517G>A (p.Met839Ile) c.1677G>A (p.Met559Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520771A>C | CA394225043 | IFT140 | c.3491T>G (p.Met1164Arg) c.1073T>G (p.Met358Arg) c.*1929T>G (n.*1929T>G) n.3315T>G c.1124T>G (p.Met375Arg) c.3245T>G (p.Met1082Arg) c.2516T>G (p.Met839Arg) c.1676T>G (p.Met559Arg) | gnomAD v4 |
| 16 | g.1520771A>G | CA394225044 | IFT140 | c.3491T>C (p.Met1164Thr) c.1073T>C (p.Met358Thr) c.*1929T>C (n.*1929T>C) n.3315T>C c.1124T>C (p.Met375Thr) c.3245T>C (p.Met1082Thr) c.2516T>C (p.Met839Thr) c.1676T>C (p.Met559Thr) | gnomAD v4 |
| 16 | g.1520771A>T | CA394225045 | IFT140 | c.3491T>A (p.Met1164Lys) c.1073T>A (p.Met358Lys) c.*1929T>A (n.*1929T>A) n.3315T>A c.1124T>A (p.Met375Lys) c.3245T>A (p.Met1082Lys) c.2516T>A (p.Met839Lys) c.1676T>A (p.Met559Lys) | gnomAD v4 |
| 16 | g.1520772T>A | CA394225047 | IFT140 | c.3490A>T (p.Met1164Leu) c.1072A>T (p.Met358Leu) c.*1928A>T (n.*1928A>T) n.3314A>T c.1123A>T (p.Met375Leu) c.3244A>T (p.Met1082Leu) c.2515A>T (p.Met839Leu) c.1675A>T (p.Met559Leu) | |
| 16 | g.1520772T>C | CA7813136 | IFT140 | c.3490A>G (p.Met1164Val) c.1072A>G (p.Met358Val) c.*1928A>G (n.*1928A>G) n.3314A>G c.1123A>G (p.Met375Val) c.3244A>G (p.Met1082Val) c.2515A>G (p.Met839Val) c.1675A>G (p.Met559Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520772T>G | CA394225046 | IFT140 | c.3490A>C (p.Met1164Leu) c.1072A>C (p.Met358Leu) c.*1928A>C (n.*1928A>C) n.3314A>C c.1123A>C (p.Met375Leu) c.3244A>C (p.Met1082Leu) c.2515A>C (p.Met839Leu) c.1675A>C (p.Met559Leu) | |
| 16 | g.1520772T= | CA2201723766 | IFT140 | c.3490A= (p.Met1164=) c.1072A= (p.Met358=) c.*1928A= (n.*1928A=) n.3314A= c.1123A= (p.Met375=) c.3244A= (p.Met1082=) c.2515A= (p.Met839=) c.1675A= (p.Met559=) | |
| 16 | g.1520773del | CA2573151757 | IFT140 | c.3489del (p.Asn1163LysfsTer2) c.1071del (p.Asn357LysfsTer2) c.*1927del (n.*1927del) n.3313del c.1122del (p.Asn374LysfsTer2) c.3243del (p.Asn1081LysfsTer2) c.2514del (p.Asn838LysfsTer2) c.1674del (p.Asn558LysfsTer2) | ClinVar dbSNP |
| 16 | g.1520773G>A | CA492931937 | IFT140 | c.3489C>T (p.Asn1163=) c.1071C>T (p.Asn357=) c.*1927C>T (n.*1927C>T) n.3313C>T c.1122C>T (p.Asn374=) c.3243C>T (p.Asn1081=) c.2514C>T (p.Asn838=) c.1674C>T (p.Asn558=) | |
| 16 | g.1520773G>C | CA394225049 | IFT140 | c.3489C>G (p.Asn1163Lys) c.1071C>G (p.Asn357Lys) c.*1927C>G (n.*1927C>G) n.3313C>G c.1122C>G (p.Asn374Lys) c.3243C>G (p.Asn1081Lys) c.2514C>G (p.Asn838Lys) c.1674C>G (p.Asn558Lys) | |
| 16 | g.1520773G>T | CA394225048 | IFT140 | c.3489C>A (p.Asn1163Lys) c.1071C>A (p.Asn357Lys) c.*1927C>A (n.*1927C>A) n.3313C>A c.1122C>A (p.Asn374Lys) c.3243C>A (p.Asn1081Lys) c.2514C>A (p.Asn838Lys) c.1674C>A (p.Asn558Lys) | gnomAD v4 COSMIC |