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.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.1520662C>A | CA394224815 | IFT140 | c.3600G>T (p.Met1200Ile) c.1182G>T (p.Met394Ile) c.*2038G>T (n.*2038G>T) n.3424G>T c.1233G>T (p.Met411Ile) c.3354G>T (p.Met1118Ile) c.2625G>T (p.Met875Ile) c.1785G>T (p.Met595Ile) | |
| 16 | g.1520662C>G | CA394224817 | IFT140 | c.3600G>C (p.Met1200Ile) c.1182G>C (p.Met394Ile) c.*2038G>C (n.*2038G>C) n.3424G>C c.1233G>C (p.Met411Ile) c.3354G>C (p.Met1118Ile) c.2625G>C (p.Met875Ile) c.1785G>C (p.Met595Ile) | |
| 16 | g.1520662C>T | CA394224816 | IFT140 | c.3600G>A (p.Met1200Ile) c.1182G>A (p.Met394Ile) c.*2038G>A (n.*2038G>A) n.3424G>A c.1233G>A (p.Met411Ile) c.3354G>A (p.Met1118Ile) c.2625G>A (p.Met875Ile) c.1785G>A (p.Met595Ile) | gnomAD v4 |
| 16 | g.1520663A= | CA2201723711 | IFT140 | c.3599T= (p.Met1200=) c.1181T= (p.Met394=) c.*2037T= (n.*2037T=) n.3423T= c.1232T= (p.Met411=) c.3353T= (p.Met1118=) c.2624T= (p.Met875=) c.1784T= (p.Met595=) | |
| 16 | g.1520663A>C | CA394224818 | IFT140 | c.3599T>G (p.Met1200Arg) c.1181T>G (p.Met394Arg) c.*2037T>G (n.*2037T>G) n.3423T>G c.1232T>G (p.Met411Arg) c.3353T>G (p.Met1118Arg) c.2624T>G (p.Met875Arg) c.1784T>G (p.Met595Arg) | |
| 16 | g.1520663A>G | CA7813100 | IFT140 | c.3599T>C (p.Met1200Thr) c.1181T>C (p.Met394Thr) c.*2037T>C (n.*2037T>C) n.3423T>C c.1232T>C (p.Met411Thr) c.3353T>C (p.Met1118Thr) c.2624T>C (p.Met875Thr) c.1784T>C (p.Met595Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520663A>T | CA394224819 | IFT140 | c.3599T>A (p.Met1200Lys) c.1181T>A (p.Met394Lys) c.*2037T>A (n.*2037T>A) n.3423T>A c.1232T>A (p.Met411Lys) c.3353T>A (p.Met1118Lys) c.2624T>A (p.Met875Lys) c.1784T>A (p.Met595Lys) | |
| 16 | g.1520663_1520664del | CA2805558984 | IFT140 | c.3598_3599del (p.Met1200AlafsTer?) c.1180_1181del (p.Met394AlafsTer?) c.*2036_*2037del (n.*2036_*2037del) n.3422_3423del c.1231_1232del (p.Met411AlafsTer?) c.3352_3353del (p.Met1118AlafsTer?) c.2623_2624del (p.Met875AlafsTer?) c.1783_1784del (p.Met595AlafsTer?) | |
| 16 | g.1520664T>A | CA394224820 | IFT140 | c.3598A>T (p.Met1200Leu) c.1180A>T (p.Met394Leu) c.*2036A>T (n.*2036A>T) n.3422A>T c.1231A>T (p.Met411Leu) c.3352A>T (p.Met1118Leu) c.2623A>T (p.Met875Leu) c.1783A>T (p.Met595Leu) | |
| 16 | g.1520664T>C | CA7813102 | IFT140 | c.3598A>G (p.Met1200Val) c.1180A>G (p.Met394Val) c.*2036A>G (n.*2036A>G) n.3422A>G c.1231A>G (p.Met411Val) c.3352A>G (p.Met1118Val) c.2623A>G (p.Met875Val) c.1783A>G (p.Met595Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520664T>G | CA7813101 | IFT140 | c.3598A>C (p.Met1200Leu) c.1180A>C (p.Met394Leu) c.*2036A>C (n.*2036A>C) n.3422A>C c.1231A>C (p.Met411Leu) c.3352A>C (p.Met1118Leu) c.2623A>C (p.Met875Leu) c.1783A>C (p.Met595Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520664T= | CA2201723712 | IFT140 | c.3598A= (p.Met1200=) c.1180A= (p.Met394=) c.*2036A= (n.*2036A=) n.3422A= c.1231A= (p.Met411=) c.3352A= (p.Met1118=) c.2623A= (p.Met875=) c.1783A= (p.Met595=) | |
| 16 | g.1520665G>A | CA492931844 | IFT140 | c.3597C>T (p.Cys1199=) c.1179C>T (p.Cys393=) c.*2035C>T (n.*2035C>T) n.3421C>T c.1230C>T (p.Cys410=) c.3351C>T (p.Cys1117=) c.2622C>T (p.Cys874=) c.1782C>T (p.Cys594=) | |
| 16 | g.1520665G>C | CA394224821 | IFT140 | c.3597C>G (p.Cys1199Trp) c.1179C>G (p.Cys393Trp) c.*2035C>G (n.*2035C>G) n.3421C>G c.1230C>G (p.Cys410Trp) c.3351C>G (p.Cys1117Trp) c.2622C>G (p.Cys874Trp) c.1782C>G (p.Cys594Trp) | |
| 16 | g.1520665G>T | CA394224822 | IFT140 | c.3597C>A (p.Cys1199Ter) c.1179C>A (p.Cys393Ter) c.*2035C>A (n.*2035C>A) n.3421C>A c.1230C>A (p.Cys410Ter) c.3351C>A (p.Cys1117Ter) c.2622C>A (p.Cys874Ter) c.1782C>A (p.Cys594Ter) | |
| 16 | g.1520666C>A | CA394224823 | IFT140 | c.3596G>T (p.Cys1199Phe) c.1178G>T (p.Cys393Phe) c.*2034G>T (n.*2034G>T) n.3420G>T c.1229G>T (p.Cys410Phe) c.3350G>T (p.Cys1117Phe) c.2621G>T (p.Cys874Phe) c.1781G>T (p.Cys594Phe) | |
| 16 | g.1520666C= | CA2201723713 | IFT140 | c.3596G= (p.Cys1199=) c.1178G= (p.Cys393=) c.*2034G= (n.*2034G=) n.3420G= c.1229G= (p.Cys410=) c.3350G= (p.Cys1117=) c.2621G= (p.Cys874=) c.1781G= (p.Cys594=) | |
| 16 | g.1520666C>G | CA394224824 | IFT140 | c.3596G>C (p.Cys1199Ser) c.1178G>C (p.Cys393Ser) c.*2034G>C (n.*2034G>C) n.3420G>C c.1229G>C (p.Cys410Ser) c.3350G>C (p.Cys1117Ser) c.2621G>C (p.Cys874Ser) c.1781G>C (p.Cys594Ser) | gnomAD v4 |
| 16 | g.1520666C>T | CA7813103 | IFT140 | c.3596G>A (p.Cys1199Tyr) c.1178G>A (p.Cys393Tyr) c.*2034G>A (n.*2034G>A) n.3420G>A c.1229G>A (p.Cys410Tyr) c.3350G>A (p.Cys1117Tyr) c.2621G>A (p.Cys874Tyr) c.1781G>A (p.Cys594Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520667A>C | CA394224826 | IFT140 | c.3595T>G (p.Cys1199Gly) c.1177T>G (p.Cys393Gly) c.*2033T>G (n.*2033T>G) n.3419T>G c.1228T>G (p.Cys410Gly) c.3349T>G (p.Cys1117Gly) c.2620T>G (p.Cys874Gly) c.1780T>G (p.Cys594Gly) | |
| 16 | g.1520667A>G | CA394224827 | IFT140 | c.3595T>C (p.Cys1199Arg) c.1177T>C (p.Cys393Arg) c.*2033T>C (n.*2033T>C) n.3419T>C c.1228T>C (p.Cys410Arg) c.3349T>C (p.Cys1117Arg) c.2620T>C (p.Cys874Arg) c.1780T>C (p.Cys594Arg) | gnomAD v4 |
| 16 | g.1520667A>T | CA394224825 | IFT140 | c.3595T>A (p.Cys1199Ser) c.1177T>A (p.Cys393Ser) c.*2033T>A (n.*2033T>A) n.3419T>A c.1228T>A (p.Cys410Ser) c.3349T>A (p.Cys1117Ser) c.2620T>A (p.Cys874Ser) c.1780T>A (p.Cys594Ser) | |
| 16 | g.1520668G>A | CA492931846 | IFT140 | c.3594C>T (p.Cys1198=) c.1176C>T (p.Cys392=) c.*2032C>T (n.*2032C>T) n.3418C>T c.1227C>T (p.Cys409=) c.3348C>T (p.Cys1116=) c.2619C>T (p.Cys873=) c.1779C>T (p.Cys593=) | dbSNP |
| 16 | g.1520668G>C | CA394224829 | IFT140 | c.3594C>G (p.Cys1198Trp) c.1176C>G (p.Cys392Trp) c.*2032C>G (n.*2032C>G) n.3418C>G c.1227C>G (p.Cys409Trp) c.3348C>G (p.Cys1116Trp) c.2619C>G (p.Cys873Trp) c.1779C>G (p.Cys593Trp) | |
| 16 | g.1520668G= | CA2201723714 | IFT140 | c.3594C= (p.Cys1198=) c.1176C= (p.Cys392=) c.*2032C= (n.*2032C=) n.3418C= c.1227C= (p.Cys409=) c.3348C= (p.Cys1116=) c.2619C= (p.Cys873=) c.1779C= (p.Cys593=) | |
| 16 | g.1520668G>T | CA394224828 | IFT140 | c.3594C>A (p.Cys1198Ter) c.1176C>A (p.Cys392Ter) c.*2032C>A (n.*2032C>A) n.3418C>A c.1227C>A (p.Cys409Ter) c.3348C>A (p.Cys1116Ter) c.2619C>A (p.Cys873Ter) c.1779C>A (p.Cys593Ter) | |
| 16 | g.1520669C>A | CA394224832 | IFT140 | c.3593G>T (p.Cys1198Phe) c.1175G>T (p.Cys392Phe) c.*2031G>T (n.*2031G>T) n.3417G>T c.1226G>T (p.Cys409Phe) c.3347G>T (p.Cys1116Phe) c.2618G>T (p.Cys873Phe) c.1778G>T (p.Cys593Phe) | |
| 16 | g.1520669C>G | CA394224830 | IFT140 | c.3593G>C (p.Cys1198Ser) c.1175G>C (p.Cys392Ser) c.*2031G>C (n.*2031G>C) n.3417G>C c.1226G>C (p.Cys409Ser) c.3347G>C (p.Cys1116Ser) c.2618G>C (p.Cys873Ser) c.1778G>C (p.Cys593Ser) | |
| 16 | g.1520669C>T | CA394224831 | IFT140 | c.3593G>A (p.Cys1198Tyr) c.1175G>A (p.Cys392Tyr) c.*2031G>A (n.*2031G>A) n.3417G>A c.1226G>A (p.Cys409Tyr) c.3347G>A (p.Cys1116Tyr) c.2618G>A (p.Cys873Tyr) c.1778G>A (p.Cys593Tyr) | |
| 16 | g.1520670A>C | CA394224833 | IFT140 | c.3592T>G (p.Cys1198Gly) c.1174T>G (p.Cys392Gly) c.*2030T>G (n.*2030T>G) n.3416T>G c.1225T>G (p.Cys409Gly) c.3346T>G (p.Cys1116Gly) c.2617T>G (p.Cys873Gly) c.1777T>G (p.Cys593Gly) | |
| 16 | g.1520670A>G | CA394224834 | IFT140 | c.3592T>C (p.Cys1198Arg) c.1174T>C (p.Cys392Arg) c.*2030T>C (n.*2030T>C) n.3416T>C c.1225T>C (p.Cys409Arg) c.3346T>C (p.Cys1116Arg) c.2617T>C (p.Cys873Arg) c.1777T>C (p.Cys593Arg) | |
| 16 | g.1520670A>T | CA394224835 | IFT140 | c.3592T>A (p.Cys1198Ser) c.1174T>A (p.Cys392Ser) c.*2030T>A (n.*2030T>A) n.3416T>A c.1225T>A (p.Cys409Ser) c.3346T>A (p.Cys1116Ser) c.2617T>A (p.Cys873Ser) c.1777T>A (p.Cys593Ser) | |
| 16 | g.1520671G>A | CA492931847 | IFT140 | c.3591C>T (p.Asp1197=) c.1173C>T (p.Asp391=) c.*2029C>T (n.*2029C>T) n.3415C>T c.1224C>T (p.Asp408=) c.3345C>T (p.Asp1115=) c.2616C>T (p.Asp872=) c.1776C>T (p.Asp592=) | |
| 16 | g.1520671G>C | CA394224836 | IFT140 | c.3591C>G (p.Asp1197Glu) c.1173C>G (p.Asp391Glu) c.*2029C>G (n.*2029C>G) n.3415C>G c.1224C>G (p.Asp408Glu) c.3345C>G (p.Asp1115Glu) c.2616C>G (p.Asp872Glu) c.1776C>G (p.Asp592Glu) | |
| 16 | g.1520671G= | CA2201723715 | IFT140 | c.3591C= (p.Asp1197=) c.1173C= (p.Asp391=) c.*2029C= (n.*2029C=) n.3415C= c.1224C= (p.Asp408=) c.3345C= (p.Asp1115=) c.2616C= (p.Asp872=) c.1776C= (p.Asp592=) | |
| 16 | g.1520671G>T | CA276675911 | IFT140 | c.3591C>A (p.Asp1197Glu) c.1173C>A (p.Asp391Glu) c.*2029C>A (n.*2029C>A) n.3415C>A c.1224C>A (p.Asp408Glu) c.3345C>A (p.Asp1115Glu) c.2616C>A (p.Asp872Glu) c.1776C>A (p.Asp592Glu) | dbSNP gnomAD v4 |
| 16 | g.1520672T>A | CA394224837 | IFT140 | c.3590A>T (p.Asp1197Val) c.1172A>T (p.Asp391Val) c.*2028A>T (n.*2028A>T) n.3414A>T c.1223A>T (p.Asp408Val) c.3344A>T (p.Asp1115Val) c.2615A>T (p.Asp872Val) c.1775A>T (p.Asp592Val) | |
| 16 | g.1520672T>C | CA394224838 | IFT140 | c.3590A>G (p.Asp1197Gly) c.1172A>G (p.Asp391Gly) c.*2028A>G (n.*2028A>G) n.3414A>G c.1223A>G (p.Asp408Gly) c.3344A>G (p.Asp1115Gly) c.2615A>G (p.Asp872Gly) c.1775A>G (p.Asp592Gly) | |
| 16 | g.1520672T>G | CA394224839 | IFT140 | c.3590A>C (p.Asp1197Ala) c.1172A>C (p.Asp391Ala) c.*2028A>C (n.*2028A>C) n.3414A>C c.1223A>C (p.Asp408Ala) c.3344A>C (p.Asp1115Ala) c.2615A>C (p.Asp872Ala) c.1775A>C (p.Asp592Ala) | |
| 16 | g.1520673C>A | CA394224840 | IFT140 | c.3589G>T (p.Asp1197Tyr) c.1171G>T (p.Asp391Tyr) c.*2027G>T (n.*2027G>T) n.3413G>T c.1222G>T (p.Asp408Tyr) c.3343G>T (p.Asp1115Tyr) c.2614G>T (p.Asp872Tyr) c.1774G>T (p.Asp592Tyr) | dbSNP |
| 16 | g.1520673C= | CA2201723716 | IFT140 | c.3589G= (p.Asp1197=) c.1171G= (p.Asp391=) c.*2027G= (n.*2027G=) n.3413G= c.1222G= (p.Asp408=) c.3343G= (p.Asp1115=) c.2614G= (p.Asp872=) c.1774G= (p.Asp592=) | |
| 16 | g.1520673C>G | CA394224841 | IFT140 | c.3589G>C (p.Asp1197His) c.1171G>C (p.Asp391His) c.*2027G>C (n.*2027G>C) n.3413G>C c.1222G>C (p.Asp408His) c.3343G>C (p.Asp1115His) c.2614G>C (p.Asp872His) c.1774G>C (p.Asp592His) | |
| 16 | g.1520673C>T | CA7813104 | IFT140 | c.3589G>A (p.Asp1197Asn) c.1171G>A (p.Asp391Asn) c.*2027G>A (n.*2027G>A) n.3413G>A c.1222G>A (p.Asp408Asn) c.3343G>A (p.Asp1115Asn) c.2614G>A (p.Asp872Asn) c.1774G>A (p.Asp592Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520674T>A | CA492931851 | IFT140 | c.3588A>T (p.Ala1196=) c.1170A>T (p.Ala390=) c.*2026A>T (n.*2026A>T) n.3412A>T c.1221A>T (p.Ala407=) c.3342A>T (p.Ala1114=) c.2613A>T (p.Ala871=) c.1773A>T (p.Ala591=) | |
| 16 | g.1520674T>C | CA492931852 | IFT140 | c.3588A>G (p.Ala1196=) c.1170A>G (p.Ala390=) c.*2026A>G (n.*2026A>G) n.3412A>G c.1221A>G (p.Ala407=) c.3342A>G (p.Ala1114=) c.2613A>G (p.Ala871=) c.1773A>G (p.Ala591=) | |
| 16 | g.1520674T>G | CA492931853 | IFT140 | c.3588A>C (p.Ala1196=) c.1170A>C (p.Ala390=) c.*2026A>C (n.*2026A>C) n.3412A>C c.1221A>C (p.Ala407=) c.3342A>C (p.Ala1114=) c.2613A>C (p.Ala871=) c.1773A>C (p.Ala591=) | |
| 16 | g.1520675G>A | CA7813105 | IFT140 | c.3587C>T (p.Ala1196Val) c.1169C>T (p.Ala390Val) c.*2025C>T (n.*2025C>T) n.3411C>T c.1220C>T (p.Ala407Val) c.3341C>T (p.Ala1114Val) c.2612C>T (p.Ala871Val) c.1772C>T (p.Ala591Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520675G>C | CA394224842 | IFT140 | c.3587C>G (p.Ala1196Gly) c.1169C>G (p.Ala390Gly) c.*2025C>G (n.*2025C>G) n.3411C>G c.1220C>G (p.Ala407Gly) c.3341C>G (p.Ala1114Gly) c.2612C>G (p.Ala871Gly) c.1772C>G (p.Ala591Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520675G= | CA2201723717 | IFT140 | c.3587C= (p.Ala1196=) c.1169C= (p.Ala390=) c.*2025C= (n.*2025C=) n.3411C= c.1220C= (p.Ala407=) c.3341C= (p.Ala1114=) c.2612C= (p.Ala871=) c.1772C= (p.Ala591=) | |
| 16 | g.1520675G>T | CA394224843 | IFT140 | c.3587C>A (p.Ala1196Glu) c.1169C>A (p.Ala390Glu) c.*2025C>A (n.*2025C>A) n.3411C>A c.1220C>A (p.Ala407Glu) c.3341C>A (p.Ala1114Glu) c.2612C>A (p.Ala871Glu) c.1772C>A (p.Ala591Glu) | |
| 16 | g.1520676C>A | CA394224844 | IFT140 | c.3586G>T (p.Ala1196Ser) c.1168G>T (p.Ala390Ser) c.*2024G>T (n.*2024G>T) n.3410G>T c.1219G>T (p.Ala407Ser) c.3340G>T (p.Ala1114Ser) c.2611G>T (p.Ala871Ser) c.1771G>T (p.Ala591Ser) | |
| 16 | g.1520676C>G | CA394224845 | IFT140 | c.3586G>C (p.Ala1196Pro) c.1168G>C (p.Ala390Pro) c.*2024G>C (n.*2024G>C) n.3410G>C c.1219G>C (p.Ala407Pro) c.3340G>C (p.Ala1114Pro) c.2611G>C (p.Ala871Pro) c.1771G>C (p.Ala591Pro) | |
| 16 | g.1520676C>T | CA394224846 | IFT140 | c.3586G>A (p.Ala1196Thr) c.1168G>A (p.Ala390Thr) c.*2024G>A (n.*2024G>A) n.3410G>A c.1219G>A (p.Ala407Thr) c.3340G>A (p.Ala1114Thr) c.2611G>A (p.Ala871Thr) c.1771G>A (p.Ala591Thr) | |
| 16 | g.1520677T>A | CA492931855 | IFT140 | c.3585A>T (p.Ile1195=) c.1167A>T (p.Ile389=) c.*2023A>T (n.*2023A>T) n.3409A>T c.1218A>T (p.Ile406=) c.3339A>T (p.Ile1113=) c.2610A>T (p.Ile870=) c.1770A>T (p.Ile590=) | |
| 16 | g.1520677T>C | CA7813106 | IFT140 | c.3585A>G (p.Ile1195Met) c.1167A>G (p.Ile389Met) c.*2023A>G (n.*2023A>G) n.3409A>G c.1218A>G (p.Ile406Met) c.3339A>G (p.Ile1113Met) c.2610A>G (p.Ile870Met) c.1770A>G (p.Ile590Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.1520677T>G | CA492931856 | IFT140 | c.3585A>C (p.Ile1195=) c.1167A>C (p.Ile389=) c.*2023A>C (n.*2023A>C) n.3409A>C c.1218A>C (p.Ile406=) c.3339A>C (p.Ile1113=) c.2610A>C (p.Ile870=) c.1770A>C (p.Ile590=) | |
| 16 | g.1520677T= | CA2201723718 | IFT140 | c.3585A= (p.Ile1195=) c.1167A= (p.Ile389=) c.*2023A= (n.*2023A=) n.3409A= c.1218A= (p.Ile406=) c.3339A= (p.Ile1113=) c.2610A= (p.Ile870=) c.1770A= (p.Ile590=) | |
| 16 | g.1520678A= | CA2201723719 | IFT140 | c.3584T= (p.Ile1195=) c.1166T= (p.Ile389=) c.*2022T= (n.*2022T=) n.3408T= c.1217T= (p.Ile406=) c.3338T= (p.Ile1113=) c.2609T= (p.Ile870=) c.1769T= (p.Ile590=) | |
| 16 | g.1520678A>C | CA394224847 | IFT140 | c.3584T>G (p.Ile1195Arg) c.1166T>G (p.Ile389Arg) c.*2022T>G (n.*2022T>G) n.3408T>G c.1217T>G (p.Ile406Arg) c.3338T>G (p.Ile1113Arg) c.2609T>G (p.Ile870Arg) c.1769T>G (p.Ile590Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520678A>G | CA7813107 | IFT140 | c.3584T>C (p.Ile1195Thr) c.1166T>C (p.Ile389Thr) c.*2022T>C (n.*2022T>C) n.3408T>C c.1217T>C (p.Ile406Thr) c.3338T>C (p.Ile1113Thr) c.2609T>C (p.Ile870Thr) c.1769T>C (p.Ile590Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1520678A>T | CA394224848 | IFT140 | c.3584T>A (p.Ile1195Lys) c.1166T>A (p.Ile389Lys) c.*2022T>A (n.*2022T>A) n.3408T>A c.1217T>A (p.Ile406Lys) c.3338T>A (p.Ile1113Lys) c.2609T>A (p.Ile870Lys) c.1769T>A (p.Ile590Lys) | |
| 16 | g.1520679T>A | CA394224849 | IFT140 | c.3583A>T (p.Ile1195Leu) c.1165A>T (p.Ile389Leu) c.*2021A>T (n.*2021A>T) n.3407A>T c.1216A>T (p.Ile406Leu) c.3337A>T (p.Ile1113Leu) c.2608A>T (p.Ile870Leu) c.1768A>T (p.Ile590Leu) | |
| 16 | g.1520679T>C | CA394224850 | IFT140 | c.3583A>G (p.Ile1195Val) c.1165A>G (p.Ile389Val) c.*2021A>G (n.*2021A>G) n.3407A>G c.1216A>G (p.Ile406Val) c.3337A>G (p.Ile1113Val) c.2608A>G (p.Ile870Val) c.1768A>G (p.Ile590Val) | gnomAD v4 |
| 16 | g.1520679T>G | CA394224851 | IFT140 | c.3583A>C (p.Ile1195Leu) c.1165A>C (p.Ile389Leu) c.*2021A>C (n.*2021A>C) n.3407A>C c.1216A>C (p.Ile406Leu) c.3337A>C (p.Ile1113Leu) c.2608A>C (p.Ile870Leu) c.1768A>C (p.Ile590Leu) | dbSNP |
| 16 | g.1520679T= | CA2201723720 | IFT140 | c.3583A= (p.Ile1195=) c.1165A= (p.Ile389=) c.*2021A= (n.*2021A=) n.3407A= c.1216A= (p.Ile406=) c.3337A= (p.Ile1113=) c.2608A= (p.Ile870=) c.1768A= (p.Ile590=) | |
| 16 | g.1520680C>A | CA394224852 | IFT140 | c.3582G>T (p.Gln1194His) c.1164G>T (p.Gln388His) c.*2020G>T (n.*2020G>T) n.3406G>T c.1215G>T (p.Gln405His) c.3336G>T (p.Gln1112His) c.2607G>T (p.Gln869His) c.1767G>T (p.Gln589His) | |
| 16 | g.1520680C>G | CA394224853 | IFT140 | c.3582G>C (p.Gln1194His) c.1164G>C (p.Gln388His) c.*2020G>C (n.*2020G>C) n.3406G>C c.1215G>C (p.Gln405His) c.3336G>C (p.Gln1112His) c.2607G>C (p.Gln869His) c.1767G>C (p.Gln589His) | gnomAD v4 |
| 16 | g.1520680C>T | CA492931859 | IFT140 | c.3582G>A (p.Gln1194=) c.1164G>A (p.Gln388=) c.*2020G>A (n.*2020G>A) n.3406G>A c.1215G>A (p.Gln405=) c.3336G>A (p.Gln1112=) c.2607G>A (p.Gln869=) c.1767G>A (p.Gln589=) | gnomAD v4 COSMIC |
| 16 | g.1520681T>A | CA394224854 | IFT140 | c.3581A>T (p.Gln1194Leu) c.1163A>T (p.Gln388Leu) c.*2019A>T (n.*2019A>T) n.3405A>T c.1214A>T (p.Gln405Leu) c.3335A>T (p.Gln1112Leu) c.2606A>T (p.Gln869Leu) c.1766A>T (p.Gln589Leu) | |
| 16 | g.1520681T>C | CA7813108 | IFT140 | c.3581A>G (p.Gln1194Arg) c.1163A>G (p.Gln388Arg) c.*2019A>G (n.*2019A>G) n.3405A>G c.1214A>G (p.Gln405Arg) c.3335A>G (p.Gln1112Arg) c.2606A>G (p.Gln869Arg) c.1766A>G (p.Gln589Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520681T>G | CA394224855 | IFT140 | c.3581A>C (p.Gln1194Pro) c.1163A>C (p.Gln388Pro) c.*2019A>C (n.*2019A>C) n.3405A>C c.1214A>C (p.Gln405Pro) c.3335A>C (p.Gln1112Pro) c.2606A>C (p.Gln869Pro) c.1766A>C (p.Gln589Pro) | |
| 16 | g.1520681T= | CA2201723721 | IFT140 | c.3581A= (p.Gln1194=) c.1163A= (p.Gln388=) c.*2019A= (n.*2019A=) n.3405A= c.1214A= (p.Gln405=) c.3335A= (p.Gln1112=) c.2606A= (p.Gln869=) c.1766A= (p.Gln589=) | |
| 16 | g.1520682G>A | CA394224856 | IFT140 | c.3580C>T (p.Gln1194Ter) c.1162C>T (p.Gln388Ter) c.*2018C>T (n.*2018C>T) n.3404C>T c.1213C>T (p.Gln405Ter) c.3334C>T (p.Gln1112Ter) c.2605C>T (p.Gln869Ter) c.1765C>T (p.Gln589Ter) | |
| 16 | g.1520682G>C | CA7813109 | IFT140 | c.3580C>G (p.Gln1194Glu) c.1162C>G (p.Gln388Glu) c.*2018C>G (n.*2018C>G) n.3404C>G c.1213C>G (p.Gln405Glu) c.3334C>G (p.Gln1112Glu) c.2605C>G (p.Gln869Glu) c.1765C>G (p.Gln589Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520682G= | CA2201723722 | IFT140 | c.3580C= (p.Gln1194=) c.1162C= (p.Gln388=) c.*2018C= (n.*2018C=) n.3404C= c.1213C= (p.Gln405=) c.3334C= (p.Gln1112=) c.2605C= (p.Gln869=) c.1765C= (p.Gln589=) | |
| 16 | g.1520682G>T | CA394224857 | IFT140 | c.3580C>A (p.Gln1194Lys) c.1162C>A (p.Gln388Lys) c.*2018C>A (n.*2018C>A) n.3404C>A c.1213C>A (p.Gln405Lys) c.3334C>A (p.Gln1112Lys) c.2605C>A (p.Gln869Lys) c.1765C>A (p.Gln589Lys) | |
| 16 | g.1520683C>A | CA394224858 | IFT140 | c.3579G>T (p.Glu1193Asp) c.1161G>T (p.Glu387Asp) c.*2017G>T (n.*2017G>T) n.3403G>T c.1212G>T (p.Glu404Asp) c.3333G>T (p.Glu1111Asp) c.2604G>T (p.Glu868Asp) c.1764G>T (p.Glu588Asp) | |
| 16 | g.1520683C= | CA2201723723 | IFT140 | c.3579G= (p.Glu1193=) c.1161G= (p.Glu387=) c.*2017G= (n.*2017G=) n.3403G= c.1212G= (p.Glu404=) c.3333G= (p.Glu1111=) c.2604G= (p.Glu868=) c.1764G= (p.Glu588=) | |
| 16 | g.1520683C>G | CA394224859 | IFT140 | c.3579G>C (p.Glu1193Asp) c.1161G>C (p.Glu387Asp) c.*2017G>C (n.*2017G>C) n.3403G>C c.1212G>C (p.Glu404Asp) c.3333G>C (p.Glu1111Asp) c.2604G>C (p.Glu868Asp) c.1764G>C (p.Glu588Asp) | gnomAD v4 |
| 16 | g.1520683C>T | CA492931862 | IFT140 | c.3579G>A (p.Glu1193=) c.1161G>A (p.Glu387=) c.*2017G>A (n.*2017G>A) n.3403G>A c.1212G>A (p.Glu404=) c.3333G>A (p.Glu1111=) c.2604G>A (p.Glu868=) c.1764G>A (p.Glu588=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520684T>A | CA394224860 | IFT140 | c.3578A>T (p.Glu1193Val) c.1160A>T (p.Glu387Val) c.*2016A>T (n.*2016A>T) n.3402A>T c.1211A>T (p.Glu404Val) c.3332A>T (p.Glu1111Val) c.2603A>T (p.Glu868Val) c.1763A>T (p.Glu588Val) | |
| 16 | g.1520684T>C | CA394224861 | IFT140 | c.3578A>G (p.Glu1193Gly) c.1160A>G (p.Glu387Gly) c.*2016A>G (n.*2016A>G) n.3402A>G c.1211A>G (p.Glu404Gly) c.3332A>G (p.Glu1111Gly) c.2603A>G (p.Glu868Gly) c.1763A>G (p.Glu588Gly) | dbSNP |
| 16 | g.1520684T>G | CA394224862 | IFT140 | c.3578A>C (p.Glu1193Ala) c.1160A>C (p.Glu387Ala) c.*2016A>C (n.*2016A>C) n.3402A>C c.1211A>C (p.Glu404Ala) c.3332A>C (p.Glu1111Ala) c.2603A>C (p.Glu868Ala) c.1763A>C (p.Glu588Ala) | |
| 16 | g.1520684T= | CA2201723724 | IFT140 | c.3578A= (p.Glu1193=) c.1160A= (p.Glu387=) c.*2016A= (n.*2016A=) n.3402A= c.1211A= (p.Glu404=) c.3332A= (p.Glu1111=) c.2603A= (p.Glu868=) c.1763A= (p.Glu588=) | |
| 16 | g.1520685C>A | CA394224863 | IFT140 | c.3577G>T (p.Glu1193Ter) c.1159G>T (p.Glu387Ter) c.*2015G>T (n.*2015G>T) n.3401G>T c.1210G>T (p.Glu404Ter) c.3331G>T (p.Glu1111Ter) c.2602G>T (p.Glu868Ter) c.1762G>T (p.Glu588Ter) | gnomAD v4 |
| 16 | g.1520685C>G | CA394224864 | IFT140 | c.3577G>C (p.Glu1193Gln) c.1159G>C (p.Glu387Gln) c.*2015G>C (n.*2015G>C) n.3401G>C c.1210G>C (p.Glu404Gln) c.3331G>C (p.Glu1111Gln) c.2602G>C (p.Glu868Gln) c.1762G>C (p.Glu588Gln) | |
| 16 | g.1520685C>T | CA394224865 | IFT140 | c.3577G>A (p.Glu1193Lys) c.1159G>A (p.Glu387Lys) c.*2015G>A (n.*2015G>A) n.3401G>A c.1210G>A (p.Glu404Lys) c.3331G>A (p.Glu1111Lys) c.2602G>A (p.Glu868Lys) c.1762G>A (p.Glu588Lys) | gnomAD v4 |
| 16 | g.1520686C>A | CA492931865 | IFT140 | c.3576G>T (p.Leu1192=) c.1158G>T (p.Leu386=) c.*2014G>T (n.*2014G>T) n.3400G>T c.1209G>T (p.Leu403=) c.3330G>T (p.Leu1110=) c.2601G>T (p.Leu867=) c.1761G>T (p.Leu587=) | |
| 16 | g.1520686C>G | CA492931866 | IFT140 | c.3576G>C (p.Leu1192=) c.1158G>C (p.Leu386=) c.*2014G>C (n.*2014G>C) n.3400G>C c.1209G>C (p.Leu403=) c.3330G>C (p.Leu1110=) c.2601G>C (p.Leu867=) c.1761G>C (p.Leu587=) | |
| 16 | g.1520686C>T | CA492931864 | IFT140 | c.3576G>A (p.Leu1192=) c.1158G>A (p.Leu386=) c.*2014G>A (n.*2014G>A) n.3400G>A c.1209G>A (p.Leu403=) c.3330G>A (p.Leu1110=) c.2601G>A (p.Leu867=) c.1761G>A (p.Leu587=) | ClinVar dbSNP |
| 16 | g.1520687A>C | CA394224868 | IFT140 | c.3575T>G (p.Leu1192Arg) c.1157T>G (p.Leu386Arg) c.*2013T>G (n.*2013T>G) n.3399T>G c.1208T>G (p.Leu403Arg) c.3329T>G (p.Leu1110Arg) c.2600T>G (p.Leu867Arg) c.1760T>G (p.Leu587Arg) | |
| 16 | g.1520687A>G | CA394224867 | IFT140 | c.3575T>C (p.Leu1192Pro) c.1157T>C (p.Leu386Pro) c.*2013T>C (n.*2013T>C) n.3399T>C c.1208T>C (p.Leu403Pro) c.3329T>C (p.Leu1110Pro) c.2600T>C (p.Leu867Pro) c.1760T>C (p.Leu587Pro) | |
| 16 | g.1520687A>T | CA394224866 | IFT140 | c.3575T>A (p.Leu1192Gln) c.1157T>A (p.Leu386Gln) c.*2013T>A (n.*2013T>A) n.3399T>A c.1208T>A (p.Leu403Gln) c.3329T>A (p.Leu1110Gln) c.2600T>A (p.Leu867Gln) c.1760T>A (p.Leu587Gln) | |
| 16 | g.1520688G>A | CA492931867 | IFT140 | c.3574C>T (p.Leu1192=) c.1156C>T (p.Leu386=) c.*2012C>T (n.*2012C>T) n.3398C>T c.1207C>T (p.Leu403=) c.3328C>T (p.Leu1110=) c.2599C>T (p.Leu867=) c.1759C>T (p.Leu587=) | |
| 16 | g.1520688G>C | CA394224869 | IFT140 | c.3574C>G (p.Leu1192Val) c.1156C>G (p.Leu386Val) c.*2012C>G (n.*2012C>G) n.3398C>G c.1207C>G (p.Leu403Val) c.3328C>G (p.Leu1110Val) c.2599C>G (p.Leu867Val) c.1759C>G (p.Leu587Val) | |
| 16 | g.1520688G>T | CA394224870 | IFT140 | c.3574C>A (p.Leu1192Met) c.1156C>A (p.Leu386Met) c.*2012C>A (n.*2012C>A) n.3398C>A c.1207C>A (p.Leu403Met) c.3328C>A (p.Leu1110Met) c.2599C>A (p.Leu867Met) c.1759C>A (p.Leu587Met) | |
| 16 | g.1520689C>A | CA492931873 | IFT140 | c.3573G>T (p.Leu1191=) c.1155G>T (p.Leu385=) c.*2011G>T (n.*2011G>T) n.3397G>T c.1206G>T (p.Leu402=) c.3327G>T (p.Leu1109=) c.2598G>T (p.Leu866=) c.1758G>T (p.Leu586=) | |
| 16 | g.1520689C>G | CA492931872 | IFT140 | c.3573G>C (p.Leu1191=) c.1155G>C (p.Leu385=) c.*2011G>C (n.*2011G>C) n.3397G>C c.1206G>C (p.Leu402=) c.3327G>C (p.Leu1109=) c.2598G>C (p.Leu866=) c.1758G>C (p.Leu586=) | |
| 16 | g.1520689C>T | CA492931871 | IFT140 | c.3573G>A (p.Leu1191=) c.1155G>A (p.Leu385=) c.*2011G>A (n.*2011G>A) n.3397G>A c.1206G>A (p.Leu402=) c.3327G>A (p.Leu1109=) c.2598G>A (p.Leu866=) c.1758G>A (p.Leu586=) | |
| 16 | g.1520690A>C | CA394224871 | IFT140 | c.3572T>G (p.Leu1191Arg) c.1154T>G (p.Leu385Arg) c.*2010T>G (n.*2010T>G) n.3396T>G c.1205T>G (p.Leu402Arg) c.3326T>G (p.Leu1109Arg) c.2597T>G (p.Leu866Arg) c.1757T>G (p.Leu586Arg) | |
| 16 | g.1520690A>G | CA394224872 | IFT140 | c.3572T>C (p.Leu1191Pro) c.1154T>C (p.Leu385Pro) c.*2010T>C (n.*2010T>C) n.3396T>C c.1205T>C (p.Leu402Pro) c.3326T>C (p.Leu1109Pro) c.2597T>C (p.Leu866Pro) c.1757T>C (p.Leu586Pro) | |
| 16 | g.1520690A>T | CA394224873 | IFT140 | c.3572T>A (p.Leu1191Gln) c.1154T>A (p.Leu385Gln) c.*2010T>A (n.*2010T>A) n.3396T>A c.1205T>A (p.Leu402Gln) c.3326T>A (p.Leu1109Gln) c.2597T>A (p.Leu866Gln) c.1757T>A (p.Leu586Gln) | |
| 16 | g.1520691G>A | CA492931874 | IFT140 | c.3571C>T (p.Leu1191=) c.1153C>T (p.Leu385=) c.*2009C>T (n.*2009C>T) n.3395C>T c.1204C>T (p.Leu402=) c.3325C>T (p.Leu1109=) c.2596C>T (p.Leu866=) c.1756C>T (p.Leu586=) | |
| 16 | g.1520691G>C | CA394224874 | IFT140 | c.3571C>G (p.Leu1191Val) c.1153C>G (p.Leu385Val) c.*2009C>G (n.*2009C>G) n.3395C>G c.1204C>G (p.Leu402Val) c.3325C>G (p.Leu1109Val) c.2596C>G (p.Leu866Val) c.1756C>G (p.Leu586Val) | |
| 16 | g.1520691G>T | CA394224875 | IFT140 | c.3571C>A (p.Leu1191Met) c.1153C>A (p.Leu385Met) c.*2009C>A (n.*2009C>A) n.3395C>A c.1204C>A (p.Leu402Met) c.3325C>A (p.Leu1109Met) c.2596C>A (p.Leu866Met) c.1756C>A (p.Leu586Met) | |
| 16 | g.1520692C>A | CA394224876 | IFT140 | c.3570G>T (p.Glu1190Asp) c.1152G>T (p.Glu384Asp) c.*2008G>T (n.*2008G>T) n.3394G>T c.1203G>T (p.Glu401Asp) c.3324G>T (p.Glu1108Asp) c.2595G>T (p.Glu865Asp) c.1755G>T (p.Glu585Asp) | gnomAD v4 |
| 16 | g.1520692C= | CA2201723725 | IFT140 | c.3570G= (p.Glu1190=) c.1152G= (p.Glu384=) c.*2008G= (n.*2008G=) n.3394G= c.1203G= (p.Glu401=) c.3324G= (p.Glu1108=) c.2595G= (p.Glu865=) c.1755G= (p.Glu585=) | |
| 16 | g.1520692C>G | CA394224877 | IFT140 | c.3570G>C (p.Glu1190Asp) c.1152G>C (p.Glu384Asp) c.*2008G>C (n.*2008G>C) n.3394G>C c.1203G>C (p.Glu401Asp) c.3324G>C (p.Glu1108Asp) c.2595G>C (p.Glu865Asp) c.1755G>C (p.Glu585Asp) | |
| 16 | g.1520692C>T | CA492931875 | IFT140 | c.3570G>A (p.Glu1190=) c.1152G>A (p.Glu384=) c.*2008G>A (n.*2008G>A) n.3394G>A c.1203G>A (p.Glu401=) c.3324G>A (p.Glu1108=) c.2595G>A (p.Glu865=) c.1755G>A (p.Glu585=) | dbSNP gnomAD v4 |
| 16 | g.1520693T>A | CA394224878 | IFT140 | c.3569A>T (p.Glu1190Val) c.1151A>T (p.Glu384Val) c.*2007A>T (n.*2007A>T) n.3393A>T c.1202A>T (p.Glu401Val) c.3323A>T (p.Glu1108Val) c.2594A>T (p.Glu865Val) c.1754A>T (p.Glu585Val) | gnomAD v4 |
| 16 | g.1520693T>C | CA394224879 | IFT140 | c.3569A>G (p.Glu1190Gly) c.1151A>G (p.Glu384Gly) c.*2007A>G (n.*2007A>G) n.3393A>G c.1202A>G (p.Glu401Gly) c.3323A>G (p.Glu1108Gly) c.2594A>G (p.Glu865Gly) c.1754A>G (p.Glu585Gly) | |
| 16 | g.1520693T>G | CA394224880 | IFT140 | c.3569A>C (p.Glu1190Ala) c.1151A>C (p.Glu384Ala) c.*2007A>C (n.*2007A>C) n.3393A>C c.1202A>C (p.Glu401Ala) c.3323A>C (p.Glu1108Ala) c.2594A>C (p.Glu865Ala) c.1754A>C (p.Glu585Ala) | |
| 16 | g.1520694C>A | CA394224881 | IFT140 | c.3568G>T (p.Glu1190Ter) c.1150G>T (p.Glu384Ter) c.*2006G>T (n.*2006G>T) n.3392G>T c.1201G>T (p.Glu401Ter) c.3322G>T (p.Glu1108Ter) c.2593G>T (p.Glu865Ter) c.1753G>T (p.Glu585Ter) | |
| 16 | g.1520694C= | CA2201723726 | IFT140 | c.3568G= (p.Glu1190=) c.1150G= (p.Glu384=) c.*2006G= (n.*2006G=) n.3392G= c.1201G= (p.Glu401=) c.3322G= (p.Glu1108=) c.2593G= (p.Glu865=) c.1753G= (p.Glu585=) | |
| 16 | g.1520694C>G | CA394224882 | IFT140 | c.3568G>C (p.Glu1190Gln) c.1150G>C (p.Glu384Gln) c.*2006G>C (n.*2006G>C) n.3392G>C c.1201G>C (p.Glu401Gln) c.3322G>C (p.Glu1108Gln) c.2593G>C (p.Glu865Gln) c.1753G>C (p.Glu585Gln) | |
| 16 | g.1520694C>T | CA7813110 | IFT140 | c.3568G>A (p.Glu1190Lys) c.1150G>A (p.Glu384Lys) c.*2006G>A (n.*2006G>A) n.3392G>A c.1201G>A (p.Glu401Lys) c.3322G>A (p.Glu1108Lys) c.2593G>A (p.Glu865Lys) c.1753G>A (p.Glu585Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520695C>A | CA492931878 | IFT140 | c.3567G>T (p.Arg1189=) c.1149G>T (p.Arg383=) c.*2005G>T (n.*2005G>T) n.3391G>T c.1200G>T (p.Arg400=) c.3321G>T (p.Arg1107=) c.2592G>T (p.Arg864=) c.1752G>T (p.Arg584=) | |
| 16 | g.1520695C>G | CA492931879 | IFT140 | c.3567G>C (p.Arg1189=) c.1149G>C (p.Arg383=) c.*2005G>C (n.*2005G>C) n.3391G>C c.1200G>C (p.Arg400=) c.3321G>C (p.Arg1107=) c.2592G>C (p.Arg864=) c.1752G>C (p.Arg584=) | |
| 16 | g.1520695C>T | CA492931881 | IFT140 | c.3567G>A (p.Arg1189=) c.1149G>A (p.Arg383=) c.*2005G>A (n.*2005G>A) n.3391G>A c.1200G>A (p.Arg400=) c.3321G>A (p.Arg1107=) c.2592G>A (p.Arg864=) c.1752G>A (p.Arg584=) | |
| 16 | g.1520696C>A | CA7813113 | IFT140 | c.3566G>T (p.Arg1189Leu) c.1148G>T (p.Arg383Leu) c.*2004G>T (n.*2004G>T) n.3390G>T c.1199G>T (p.Arg400Leu) c.3320G>T (p.Arg1107Leu) c.2591G>T (p.Arg864Leu) c.1751G>T (p.Arg584Leu) | ClinVar dbSNP ExAC gnomAD v2 |
| 16 | g.1520696C= | CA2201723727 | IFT140 | c.3566G= (p.Arg1189=) c.1148G= (p.Arg383=) c.*2004G= (n.*2004G=) n.3390G= c.1199G= (p.Arg400=) c.3320G= (p.Arg1107=) c.2591G= (p.Arg864=) c.1751G= (p.Arg584=) | |
| 16 | g.1520696C>G | CA7813111 | IFT140 | c.3566G>C (p.Arg1189Pro) c.1148G>C (p.Arg383Pro) c.*2004G>C (n.*2004G>C) n.3390G>C c.1199G>C (p.Arg400Pro) c.3320G>C (p.Arg1107Pro) c.2591G>C (p.Arg864Pro) c.1751G>C (p.Arg584Pro) | dbSNP ExAC gnomAD v4 |
| 16 | g.1520696C>T | CA7813112 | IFT140 | c.3566G>A (p.Arg1189Gln) c.1148G>A (p.Arg383Gln) c.*2004G>A (n.*2004G>A) n.3390G>A c.1199G>A (p.Arg400Gln) c.3320G>A (p.Arg1107Gln) c.2591G>A (p.Arg864Gln) c.1751G>A (p.Arg584Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520697G>A | CA394224883 | IFT140 | c.3565C>T (p.Arg1189Trp) c.1147C>T (p.Arg383Trp) c.*2003C>T (n.*2003C>T) n.3389C>T c.1198C>T (p.Arg400Trp) c.3319C>T (p.Arg1107Trp) c.2590C>T (p.Arg864Trp) c.1750C>T (p.Arg584Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520697G>C | CA394224884 | IFT140 | c.3565C>G (p.Arg1189Gly) c.1147C>G (p.Arg383Gly) c.*2003C>G (n.*2003C>G) n.3389C>G c.1198C>G (p.Arg400Gly) c.3319C>G (p.Arg1107Gly) c.2590C>G (p.Arg864Gly) c.1750C>G (p.Arg584Gly) | |
| 16 | g.1520697G= | CA2201723728 | IFT140 | c.3565C= (p.Arg1189=) c.1147C= (p.Arg383=) c.*2003C= (n.*2003C=) n.3389C= c.1198C= (p.Arg400=) c.3319C= (p.Arg1107=) c.2590C= (p.Arg864=) c.1750C= (p.Arg584=) | |
| 16 | g.1520697G>T | CA7813114 | IFT140 | c.3565C>A (p.Arg1189=) c.1147C>A (p.Arg383=) c.*2003C>A (n.*2003C>A) n.3389C>A c.1198C>A (p.Arg400=) c.3319C>A (p.Arg1107=) c.2590C>A (p.Arg864=) c.1750C>A (p.Arg584=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520698C>A | CA492931884 | IFT140 | c.3564G>T (p.Arg1188=) c.1146G>T (p.Arg382=) c.*2002G>T (n.*2002G>T) n.3388G>T c.1197G>T (p.Arg399=) c.3318G>T (p.Arg1106=) c.2589G>T (p.Arg863=) c.1749G>T (p.Arg583=) | |
| 16 | g.1520698C>G | CA492931885 | IFT140 | c.3564G>C (p.Arg1188=) c.1146G>C (p.Arg382=) c.*2002G>C (n.*2002G>C) n.3388G>C c.1197G>C (p.Arg399=) c.3318G>C (p.Arg1106=) c.2589G>C (p.Arg863=) c.1749G>C (p.Arg583=) | |
| 16 | g.1520698C>T | CA492931886 | IFT140 | c.3564G>A (p.Arg1188=) c.1146G>A (p.Arg382=) c.*2002G>A (n.*2002G>A) n.3388G>A c.1197G>A (p.Arg399=) c.3318G>A (p.Arg1106=) c.2589G>A (p.Arg863=) c.1749G>A (p.Arg583=) | |
| 16 | g.1520699C>A | CA394224885 | IFT140 | c.3563G>T (p.Arg1188Leu) c.1145G>T (p.Arg382Leu) c.*2001G>T (n.*2001G>T) n.3387G>T c.1196G>T (p.Arg399Leu) c.3317G>T (p.Arg1106Leu) c.2588G>T (p.Arg863Leu) c.1748G>T (p.Arg583Leu) | |
| 16 | g.1520699C= | CA2201723729 | IFT140 | c.3563G= (p.Arg1188=) c.1145G= (p.Arg382=) c.*2001G= (n.*2001G=) n.3387G= c.1196G= (p.Arg399=) c.3317G= (p.Arg1106=) c.2588G= (p.Arg863=) c.1748G= (p.Arg583=) | |
| 16 | g.1520699C>G | CA394224886 | IFT140 | c.3563G>C (p.Arg1188Pro) c.1145G>C (p.Arg382Pro) c.*2001G>C (n.*2001G>C) n.3387G>C c.1196G>C (p.Arg399Pro) c.3317G>C (p.Arg1106Pro) c.2588G>C (p.Arg863Pro) c.1748G>C (p.Arg583Pro) | gnomAD v4 |
| 16 | g.1520699C>T | CA7813115 | IFT140 | c.3563G>A (p.Arg1188Gln) c.1145G>A (p.Arg382Gln) c.*2001G>A (n.*2001G>A) n.3387G>A c.1196G>A (p.Arg399Gln) c.3317G>A (p.Arg1106Gln) c.2588G>A (p.Arg863Gln) c.1748G>A (p.Arg583Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520700G>A | CA7813116 | IFT140 | c.3562C>T (p.Arg1188Trp) c.1144C>T (p.Arg382Trp) c.*2000C>T (n.*2000C>T) n.3386C>T c.1195C>T (p.Arg399Trp) c.3316C>T (p.Arg1106Trp) c.2587C>T (p.Arg863Trp) c.1747C>T (p.Arg583Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1520700G>C | CA394224887 | IFT140 | c.3562C>G (p.Arg1188Gly) c.1144C>G (p.Arg382Gly) c.*2000C>G (n.*2000C>G) n.3386C>G c.1195C>G (p.Arg399Gly) c.3316C>G (p.Arg1106Gly) c.2587C>G (p.Arg863Gly) c.1747C>G (p.Arg583Gly) | dbSNP |
| 16 | g.1520700G= | CA2201723730 | IFT140 | c.3562C= (p.Arg1188=) c.1144C= (p.Arg382=) c.*2000C= (n.*2000C=) n.3386C= c.1195C= (p.Arg399=) c.3316C= (p.Arg1106=) c.2587C= (p.Arg863=) c.1747C= (p.Arg583=) | |
| 16 | g.1520700G>T | CA492931888 | IFT140 | c.3562C>A (p.Arg1188=) c.1144C>A (p.Arg382=) c.*2000C>A (n.*2000C>A) n.3386C>A c.1195C>A (p.Arg399=) c.3316C>A (p.Arg1106=) c.2587C>A (p.Arg863=) c.1747C>A (p.Arg583=) | ClinVar gnomAD v4 |
| 16 | g.1520701C>A | CA492931889 | IFT140 | c.3561G>T (p.Ser1187=) c.1143G>T (p.Ser381=) c.*1999G>T (n.*1999G>T) n.3385G>T c.1194G>T (p.Ser398=) c.3315G>T (p.Ser1105=) c.2586G>T (p.Ser862=) c.1746G>T (p.Ser582=) | |
| 16 | g.1520701C= | CA2201723731 | IFT140 | c.3561G= (p.Ser1187=) c.1143G= (p.Ser381=) c.*1999G= (n.*1999G=) n.3385G= c.1194G= (p.Ser398=) c.3315G= (p.Ser1105=) c.2586G= (p.Ser862=) c.1746G= (p.Ser582=) | |
| 16 | g.1520701C>G | CA7813118 | IFT140 | c.3561G>C (p.Ser1187=) c.1143G>C (p.Ser381=) c.*1999G>C (n.*1999G>C) n.3385G>C c.1194G>C (p.Ser398=) c.3315G>C (p.Ser1105=) c.2586G>C (p.Ser862=) c.1746G>C (p.Ser582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520701C>T | CA7813117 | IFT140 | c.3561G>A (p.Ser1187=) c.1143G>A (p.Ser381=) c.*1999G>A (n.*1999G>A) n.3385G>A c.1194G>A (p.Ser398=) c.3315G>A (p.Ser1105=) c.2586G>A (p.Ser862=) c.1746G>A (p.Ser582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520702G>A | CA276675952 | IFT140 | c.3560C>T (p.Ser1187Leu) c.1142C>T (p.Ser381Leu) c.*1998C>T (n.*1998C>T) n.3384C>T c.1193C>T (p.Ser398Leu) c.3314C>T (p.Ser1105Leu) c.2585C>T (p.Ser862Leu) c.1745C>T (p.Ser582Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520702G>C | CA394224888 | IFT140 | c.3560C>G (p.Ser1187Trp) c.1142C>G (p.Ser381Trp) c.*1998C>G (n.*1998C>G) n.3384C>G c.1193C>G (p.Ser398Trp) c.3314C>G (p.Ser1105Trp) c.2585C>G (p.Ser862Trp) c.1745C>G (p.Ser582Trp) | |
| 16 | g.1520702G= | CA2201723732 | IFT140 | c.3560C= (p.Ser1187=) c.1142C= (p.Ser381=) c.*1998C= (n.*1998C=) n.3384C= c.1193C= (p.Ser398=) c.3314C= (p.Ser1105=) c.2585C= (p.Ser862=) c.1745C= (p.Ser582=) | |
| 16 | g.1520702G>T | CA394224889 | IFT140 | c.3560C>A (p.Ser1187Ter) c.1142C>A (p.Ser381Ter) c.*1998C>A (n.*1998C>A) n.3384C>A c.1193C>A (p.Ser398Ter) c.3314C>A (p.Ser1105Ter) c.2585C>A (p.Ser862Ter) c.1745C>A (p.Ser582Ter) | |
| 16 | g.1520703A>C | CA394224890 | IFT140 | c.3559T>G (p.Ser1187Ala) c.1141T>G (p.Ser381Ala) c.*1997T>G (n.*1997T>G) n.3383T>G c.1192T>G (p.Ser398Ala) c.3313T>G (p.Ser1105Ala) c.2584T>G (p.Ser862Ala) c.1744T>G (p.Ser582Ala) | |
| 16 | g.1520703A>G | CA394224891 | IFT140 | c.3559T>C (p.Ser1187Pro) c.1141T>C (p.Ser381Pro) c.*1997T>C (n.*1997T>C) n.3383T>C c.1192T>C (p.Ser398Pro) c.3313T>C (p.Ser1105Pro) c.2584T>C (p.Ser862Pro) c.1744T>C (p.Ser582Pro) | |
| 16 | g.1520703A>T | CA394224892 | IFT140 | c.3559T>A (p.Ser1187Thr) c.1141T>A (p.Ser381Thr) c.*1997T>A (n.*1997T>A) n.3383T>A c.1192T>A (p.Ser398Thr) c.3313T>A (p.Ser1105Thr) c.2584T>A (p.Ser862Thr) c.1744T>A (p.Ser582Thr) | |
| 16 | g.1520704C>A | CA394224893 | IFT140 | c.3558G>T (p.Glu1186Asp) c.1140G>T (p.Glu380Asp) c.*1996G>T (n.*1996G>T) n.3382G>T c.1191G>T (p.Glu397Asp) c.3312G>T (p.Glu1104Asp) c.2583G>T (p.Glu861Asp) c.1743G>T (p.Glu581Asp) | |
| 16 | g.1520704C= | CA2201723733 | IFT140 | c.3558G= (p.Glu1186=) c.1140G= (p.Glu380=) c.*1996G= (n.*1996G=) n.3382G= c.1191G= (p.Glu397=) c.3312G= (p.Glu1104=) c.2583G= (p.Glu861=) c.1743G= (p.Glu581=) | |
| 16 | g.1520704C>G | CA394224894 | IFT140 | c.3558G>C (p.Glu1186Asp) c.1140G>C (p.Glu380Asp) c.*1996G>C (n.*1996G>C) n.3382G>C c.1191G>C (p.Glu397Asp) c.3312G>C (p.Glu1104Asp) c.2583G>C (p.Glu861Asp) c.1743G>C (p.Glu581Asp) | |
| 16 | g.1520704C>T | CA7813119 | IFT140 | c.3558G>A (p.Glu1186=) c.1140G>A (p.Glu380=) c.*1996G>A (n.*1996G>A) n.3382G>A c.1191G>A (p.Glu397=) c.3312G>A (p.Glu1104=) c.2583G>A (p.Glu861=) c.1743G>A (p.Glu581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520705T>A | CA394224895 | IFT140 | c.3557A>T (p.Glu1186Val) c.1139A>T (p.Glu380Val) c.*1995A>T (n.*1995A>T) n.3381A>T c.1190A>T (p.Glu397Val) c.3311A>T (p.Glu1104Val) c.2582A>T (p.Glu861Val) c.1742A>T (p.Glu581Val) | |
| 16 | g.1520705T>C | CA394224896 | IFT140 | c.3557A>G (p.Glu1186Gly) c.1139A>G (p.Glu380Gly) c.*1995A>G (n.*1995A>G) n.3381A>G c.1190A>G (p.Glu397Gly) c.3311A>G (p.Glu1104Gly) c.2582A>G (p.Glu861Gly) c.1742A>G (p.Glu581Gly) | |
| 16 | g.1520705T>G | CA394224897 | IFT140 | c.3557A>C (p.Glu1186Ala) c.1139A>C (p.Glu380Ala) c.*1995A>C (n.*1995A>C) n.3381A>C c.1190A>C (p.Glu397Ala) c.3311A>C (p.Glu1104Ala) c.2582A>C (p.Glu861Ala) c.1742A>C (p.Glu581Ala) | |
| 16 | g.1520706C>A | CA394224898 | IFT140 | c.3556G>T (p.Glu1186Ter) c.1138G>T (p.Glu380Ter) c.*1994G>T (n.*1994G>T) n.3380G>T c.1189G>T (p.Glu397Ter) c.3310G>T (p.Glu1104Ter) c.2581G>T (p.Glu861Ter) c.1741G>T (p.Glu581Ter) | |
| 16 | g.1520706C>G | CA394224899 | IFT140 | c.3556G>C (p.Glu1186Gln) c.1138G>C (p.Glu380Gln) c.*1994G>C (n.*1994G>C) n.3380G>C c.1189G>C (p.Glu397Gln) c.3310G>C (p.Glu1104Gln) c.2581G>C (p.Glu861Gln) c.1741G>C (p.Glu581Gln) | |
| 16 | g.1520706C>T | CA394224900 | IFT140 | c.3556G>A (p.Glu1186Lys) c.1138G>A (p.Glu380Lys) c.*1994G>A (n.*1994G>A) n.3380G>A c.1189G>A (p.Glu397Lys) c.3310G>A (p.Glu1104Lys) c.2581G>A (p.Glu861Lys) c.1741G>A (p.Glu581Lys) | |
| 16 | g.1520707C>A | CA394224902 | IFT140 | c.3555G>T (p.Glu1185Asp) c.1137G>T (p.Glu379Asp) c.*1993G>T (n.*1993G>T) n.3379G>T c.1188G>T (p.Glu396Asp) c.3309G>T (p.Glu1103Asp) c.2580G>T (p.Glu860Asp) c.1740G>T (p.Glu580Asp) | |
| 16 | g.1520707C= | CA2201723734 | IFT140 | c.3555G= (p.Glu1185=) c.1137G= (p.Glu379=) c.*1993G= (n.*1993G=) n.3379G= c.1188G= (p.Glu396=) c.3309G= (p.Glu1103=) c.2580G= (p.Glu860=) c.1740G= (p.Glu580=) | |
| 16 | g.1520707C>G | CA394224901 | IFT140 | c.3555G>C (p.Glu1185Asp) c.1137G>C (p.Glu379Asp) c.*1993G>C (n.*1993G>C) n.3379G>C c.1188G>C (p.Glu396Asp) c.3309G>C (p.Glu1103Asp) c.2580G>C (p.Glu860Asp) c.1740G>C (p.Glu580Asp) | |
| 16 | g.1520707C>T | CA492931895 | IFT140 | c.3555G>A (p.Glu1185=) c.1137G>A (p.Glu379=) c.*1993G>A (n.*1993G>A) n.3379G>A c.1188G>A (p.Glu396=) c.3309G>A (p.Glu1103=) c.2580G>A (p.Glu860=) c.1740G>A (p.Glu580=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520708T>A | CA394224903 | IFT140 | c.3554A>T (p.Glu1185Val) c.1136A>T (p.Glu379Val) c.*1992A>T (n.*1992A>T) n.3378A>T c.1187A>T (p.Glu396Val) c.3308A>T (p.Glu1103Val) c.2579A>T (p.Glu860Val) c.1739A>T (p.Glu580Val) | |
| 16 | g.1520708T>C | CA394224904 | IFT140 | c.3554A>G (p.Glu1185Gly) c.1136A>G (p.Glu379Gly) c.*1992A>G (n.*1992A>G) n.3378A>G c.1187A>G (p.Glu396Gly) c.3308A>G (p.Glu1103Gly) c.2579A>G (p.Glu860Gly) c.1739A>G (p.Glu580Gly) | |
| 16 | g.1520708T>G | CA394224905 | IFT140 | c.3554A>C (p.Glu1185Ala) c.1136A>C (p.Glu379Ala) c.*1992A>C (n.*1992A>C) n.3378A>C c.1187A>C (p.Glu396Ala) c.3308A>C (p.Glu1103Ala) c.2579A>C (p.Glu860Ala) c.1739A>C (p.Glu580Ala) | |
| 16 | g.1520709C>A | CA394224906 | IFT140 | c.3553G>T (p.Glu1185Ter) c.1135G>T (p.Glu379Ter) c.*1991G>T (n.*1991G>T) n.3377G>T c.1186G>T (p.Glu396Ter) c.3307G>T (p.Glu1103Ter) c.2578G>T (p.Glu860Ter) c.1738G>T (p.Glu580Ter) | |
| 16 | g.1520709C>G | CA394224907 | IFT140 | c.3553G>C (p.Glu1185Gln) c.1135G>C (p.Glu379Gln) c.*1991G>C (n.*1991G>C) n.3377G>C c.1186G>C (p.Glu396Gln) c.3307G>C (p.Glu1103Gln) c.2578G>C (p.Glu860Gln) c.1738G>C (p.Glu580Gln) | |
| 16 | g.1520709C>T | CA394224908 | IFT140 | c.3553G>A (p.Glu1185Lys) c.1135G>A (p.Glu379Lys) c.*1991G>A (n.*1991G>A) n.3377G>A c.1186G>A (p.Glu396Lys) c.3307G>A (p.Glu1103Lys) c.2578G>A (p.Glu860Lys) c.1738G>A (p.Glu580Lys) | |
| 16 | g.1520710A= | CA2201723735 | IFT140 | c.3552T= (p.Pro1184=) c.1134T= (p.Pro378=) c.*1990T= (n.*1990T=) n.3376T= c.1185T= (p.Pro395=) c.3306T= (p.Pro1102=) c.2577T= (p.Pro859=) c.1737T= (p.Pro579=) | |
| 16 | g.1520710A>C | CA492931896 | IFT140 | c.3552T>G (p.Pro1184=) c.1134T>G (p.Pro378=) c.*1990T>G (n.*1990T>G) n.3376T>G c.1185T>G (p.Pro395=) c.3306T>G (p.Pro1102=) c.2577T>G (p.Pro859=) c.1737T>G (p.Pro579=) | dbSNP |
| 16 | g.1520710A>G | CA7813120 | IFT140 | c.3552T>C (p.Pro1184=) c.1134T>C (p.Pro378=) c.*1990T>C (n.*1990T>C) n.3376T>C c.1185T>C (p.Pro395=) c.3306T>C (p.Pro1102=) c.2577T>C (p.Pro859=) c.1737T>C (p.Pro579=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520710A>T | CA492931897 | IFT140 | c.3552T>A (p.Pro1184=) c.1134T>A (p.Pro378=) c.*1990T>A (n.*1990T>A) n.3376T>A c.1185T>A (p.Pro395=) c.3306T>A (p.Pro1102=) c.2577T>A (p.Pro859=) c.1737T>A (p.Pro579=) | |
| 16 | g.1520711G>A | CA394224909 | IFT140 | c.3551C>T (p.Pro1184Leu) c.1133C>T (p.Pro378Leu) c.*1989C>T (n.*1989C>T) n.3375C>T c.1184C>T (p.Pro395Leu) c.3305C>T (p.Pro1102Leu) c.2576C>T (p.Pro859Leu) c.1736C>T (p.Pro579Leu) | |
| 16 | g.1520711G>C | CA394224910 | IFT140 | c.3551C>G (p.Pro1184Arg) c.1133C>G (p.Pro378Arg) c.*1989C>G (n.*1989C>G) n.3375C>G c.1184C>G (p.Pro395Arg) c.3305C>G (p.Pro1102Arg) c.2576C>G (p.Pro859Arg) c.1736C>G (p.Pro579Arg) | gnomAD v4 |
| 16 | g.1520711G>T | CA394224911 | IFT140 | c.3551C>A (p.Pro1184His) c.1133C>A (p.Pro378His) c.*1989C>A (n.*1989C>A) n.3375C>A c.1184C>A (p.Pro395His) c.3305C>A (p.Pro1102His) c.2576C>A (p.Pro859His) c.1736C>A (p.Pro579His) | |
| 16 | g.1520712G>A | CA7813121 | IFT140 | c.3550C>T (p.Pro1184Ser) c.1132C>T (p.Pro378Ser) c.*1988C>T (n.*1988C>T) n.3374C>T c.1183C>T (p.Pro395Ser) c.3304C>T (p.Pro1102Ser) c.2575C>T (p.Pro859Ser) c.1735C>T (p.Pro579Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520712G>C | CA394224912 | IFT140 | c.3550C>G (p.Pro1184Ala) c.1132C>G (p.Pro378Ala) c.*1988C>G (n.*1988C>G) n.3374C>G c.1183C>G (p.Pro395Ala) c.3304C>G (p.Pro1102Ala) c.2575C>G (p.Pro859Ala) c.1735C>G (p.Pro579Ala) | |
| 16 | g.1520712G= | CA2201723736 | IFT140 | c.3550C= (p.Pro1184=) c.1132C= (p.Pro378=) c.*1988C= (n.*1988C=) n.3374C= c.1183C= (p.Pro395=) c.3304C= (p.Pro1102=) c.2575C= (p.Pro859=) c.1735C= (p.Pro579=) | |
| 16 | g.1520712G>T | CA394224913 | IFT140 | c.3550C>A (p.Pro1184Thr) c.1132C>A (p.Pro378Thr) c.*1988C>A (n.*1988C>A) n.3374C>A c.1183C>A (p.Pro395Thr) c.3304C>A (p.Pro1102Thr) c.2575C>A (p.Pro859Thr) c.1735C>A (p.Pro579Thr) | gnomAD v4 |
| 16 | g.1520713C>A | CA492931899 | IFT140 | c.3549G>T (p.Leu1183=) c.1131G>T (p.Leu377=) c.*1987G>T (n.*1987G>T) n.3373G>T c.1182G>T (p.Leu394=) c.3303G>T (p.Leu1101=) c.2574G>T (p.Leu858=) c.1734G>T (p.Leu578=) | |
| 16 | g.1520713C= | CA2201723737 | IFT140 | c.3549G= (p.Leu1183=) c.1131G= (p.Leu377=) c.*1987G= (n.*1987G=) n.3373G= c.1182G= (p.Leu394=) c.3303G= (p.Leu1101=) c.2574G= (p.Leu858=) c.1734G= (p.Leu578=) | |
| 16 | g.1520713C>G | CA492931900 | IFT140 | c.3549G>C (p.Leu1183=) c.1131G>C (p.Leu377=) c.*1987G>C (n.*1987G>C) n.3373G>C c.1182G>C (p.Leu394=) c.3303G>C (p.Leu1101=) c.2574G>C (p.Leu858=) c.1734G>C (p.Leu578=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520713C>T | CA492931901 | IFT140 | c.3549G>A (p.Leu1183=) c.1131G>A (p.Leu377=) c.*1987G>A (n.*1987G>A) n.3373G>A c.1182G>A (p.Leu394=) c.3303G>A (p.Leu1101=) c.2574G>A (p.Leu858=) c.1734G>A (p.Leu578=) | gnomAD v4 |
| 16 | g.1520714A>C | CA394224915 | IFT140 | c.3548T>G (p.Leu1183Arg) c.1130T>G (p.Leu377Arg) c.*1986T>G (n.*1986T>G) n.3372T>G c.1181T>G (p.Leu394Arg) c.3302T>G (p.Leu1101Arg) c.2573T>G (p.Leu858Arg) c.1733T>G (p.Leu578Arg) | |
| 16 | g.1520714A>G | CA394224916 | IFT140 | c.3548T>C (p.Leu1183Pro) c.1130T>C (p.Leu377Pro) c.*1986T>C (n.*1986T>C) n.3372T>C c.1181T>C (p.Leu394Pro) c.3302T>C (p.Leu1101Pro) c.2573T>C (p.Leu858Pro) c.1733T>C (p.Leu578Pro) | |
| 16 | g.1520714A>T | CA394224914 | IFT140 | c.3548T>A (p.Leu1183Gln) c.1130T>A (p.Leu377Gln) c.*1986T>A (n.*1986T>A) n.3372T>A c.1181T>A (p.Leu394Gln) c.3302T>A (p.Leu1101Gln) c.2573T>A (p.Leu858Gln) c.1733T>A (p.Leu578Gln) | |
| 16 | g.1520715G>A | CA492931902 | IFT140 | c.3547C>T (p.Leu1183=) c.1129C>T (p.Leu377=) c.*1985C>T (n.*1985C>T) n.3371C>T c.1180C>T (p.Leu394=) c.3301C>T (p.Leu1101=) c.2572C>T (p.Leu858=) c.1732C>T (p.Leu578=) | |
| 16 | g.1520715G>C | CA394224917 | IFT140 | c.3547C>G (p.Leu1183Val) c.1129C>G (p.Leu377Val) c.*1985C>G (n.*1985C>G) n.3371C>G c.1180C>G (p.Leu394Val) c.3301C>G (p.Leu1101Val) c.2572C>G (p.Leu858Val) c.1732C>G (p.Leu578Val) | |
| 16 | g.1520715G>T | CA394224918 | IFT140 | c.3547C>A (p.Leu1183Met) c.1129C>A (p.Leu377Met) c.*1985C>A (n.*1985C>A) n.3371C>A c.1180C>A (p.Leu394Met) c.3301C>A (p.Leu1101Met) c.2572C>A (p.Leu858Met) c.1732C>A (p.Leu578Met) | |
| 16 | g.1520716G>A | CA492931903 | IFT140 | c.3546C>T (p.Asp1182=) c.1128C>T (p.Asp376=) c.*1984C>T (n.*1984C>T) n.3370C>T c.1179C>T (p.Asp393=) c.3300C>T (p.Asp1100=) c.2571C>T (p.Asp857=) c.1731C>T (p.Asp577=) | |
| 16 | g.1520716G>C | CA394224919 | IFT140 | c.3546C>G (p.Asp1182Glu) c.1128C>G (p.Asp376Glu) c.*1984C>G (n.*1984C>G) n.3370C>G c.1179C>G (p.Asp393Glu) c.3300C>G (p.Asp1100Glu) c.2571C>G (p.Asp857Glu) c.1731C>G (p.Asp577Glu) | gnomAD v4 |
| 16 | g.1520716G>T | CA394224920 | IFT140 | c.3546C>A (p.Asp1182Glu) c.1128C>A (p.Asp376Glu) c.*1984C>A (n.*1984C>A) n.3370C>A c.1179C>A (p.Asp393Glu) c.3300C>A (p.Asp1100Glu) c.2571C>A (p.Asp857Glu) c.1731C>A (p.Asp577Glu) | |
| 16 | g.1520717T>A | CA394224923 | IFT140 | c.3545A>T (p.Asp1182Val) c.1127A>T (p.Asp376Val) c.*1983A>T (n.*1983A>T) n.3369A>T c.1178A>T (p.Asp393Val) c.3299A>T (p.Asp1100Val) c.2570A>T (p.Asp857Val) c.1730A>T (p.Asp577Val) | |
| 16 | g.1520717T>C | CA394224922 | IFT140 | c.3545A>G (p.Asp1182Gly) c.1127A>G (p.Asp376Gly) c.*1983A>G (n.*1983A>G) n.3369A>G c.1178A>G (p.Asp393Gly) c.3299A>G (p.Asp1100Gly) c.2570A>G (p.Asp857Gly) c.1730A>G (p.Asp577Gly) | |
| 16 | g.1520717T>G | CA394224921 | IFT140 | c.3545A>C (p.Asp1182Ala) c.1127A>C (p.Asp376Ala) c.*1983A>C (n.*1983A>C) n.3369A>C c.1178A>C (p.Asp393Ala) c.3299A>C (p.Asp1100Ala) c.2570A>C (p.Asp857Ala) c.1730A>C (p.Asp577Ala) | dbSNP |
| 16 | g.1520717T= | CA2201723738 | IFT140 | c.3545A= (p.Asp1182=) c.1127A= (p.Asp376=) c.*1983A= (n.*1983A=) n.3369A= c.1178A= (p.Asp393=) c.3299A= (p.Asp1100=) c.2570A= (p.Asp857=) c.1730A= (p.Asp577=) | |
| 16 | g.1520718C>A | CA394224924 | IFT140 | c.3544G>T (p.Asp1182Tyr) c.1126G>T (p.Asp376Tyr) c.*1982G>T (n.*1982G>T) n.3368G>T c.1177G>T (p.Asp393Tyr) c.3298G>T (p.Asp1100Tyr) c.2569G>T (p.Asp857Tyr) c.1729G>T (p.Asp577Tyr) | |
| 16 | g.1520718C>G | CA394224925 | IFT140 | c.3544G>C (p.Asp1182His) c.1126G>C (p.Asp376His) c.*1982G>C (n.*1982G>C) n.3368G>C c.1177G>C (p.Asp393His) c.3298G>C (p.Asp1100His) c.2569G>C (p.Asp857His) c.1729G>C (p.Asp577His) | |
| 16 | g.1520718C>T | CA394224926 | IFT140 | c.3544G>A (p.Asp1182Asn) c.1126G>A (p.Asp376Asn) c.*1982G>A (n.*1982G>A) n.3368G>A c.1177G>A (p.Asp393Asn) c.3298G>A (p.Asp1100Asn) c.2569G>A (p.Asp857Asn) c.1729G>A (p.Asp577Asn) | |
| 16 | g.1520719C>A | CA492931904 | IFT140 | c.3543G>T (p.Ser1181=) c.1125G>T (p.Ser375=) c.*1981G>T (n.*1981G>T) n.3367G>T c.1176G>T (p.Ser392=) c.3297G>T (p.Ser1099=) c.2568G>T (p.Ser856=) c.1728G>T (p.Ser576=) | |
| 16 | g.1520719C= | CA2201723739 | IFT140 | c.3543G= (p.Ser1181=) c.1125G= (p.Ser375=) c.*1981G= (n.*1981G=) n.3367G= c.1176G= (p.Ser392=) c.3297G= (p.Ser1099=) c.2568G= (p.Ser856=) c.1728G= (p.Ser576=) | |
| 16 | g.1520719C>G | CA492931905 | IFT140 | c.3543G>C (p.Ser1181=) c.1125G>C (p.Ser375=) c.*1981G>C (n.*1981G>C) n.3367G>C c.1176G>C (p.Ser392=) c.3297G>C (p.Ser1099=) c.2568G>C (p.Ser856=) c.1728G>C (p.Ser576=) | ClinVar |
| 16 | g.1520719C>T | CA7813122 | IFT140 | c.3543G>A (p.Ser1181=) c.1125G>A (p.Ser375=) c.*1981G>A (n.*1981G>A) n.3367G>A c.1176G>A (p.Ser392=) c.3297G>A (p.Ser1099=) c.2568G>A (p.Ser856=) c.1728G>A (p.Ser576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520720G>A | CA7813123 | IFT140 | c.3542C>T (p.Ser1181Leu) c.1124C>T (p.Ser375Leu) c.*1980C>T (n.*1980C>T) n.3366C>T c.1175C>T (p.Ser392Leu) c.3296C>T (p.Ser1099Leu) c.2567C>T (p.Ser856Leu) c.1727C>T (p.Ser576Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520720G>C | CA394224927 | IFT140 | c.3542C>G (p.Ser1181Trp) c.1124C>G (p.Ser375Trp) c.*1980C>G (n.*1980C>G) n.3366C>G c.1175C>G (p.Ser392Trp) c.3296C>G (p.Ser1099Trp) c.2567C>G (p.Ser856Trp) c.1727C>G (p.Ser576Trp) | |
| 16 | g.1520720G= | CA2201723740 | IFT140 | c.3542C= (p.Ser1181=) c.1124C= (p.Ser375=) c.*1980C= (n.*1980C=) n.3366C= c.1175C= (p.Ser392=) c.3296C= (p.Ser1099=) c.2567C= (p.Ser856=) c.1727C= (p.Ser576=) | |
| 16 | g.1520720G>T | CA394224928 | IFT140 | c.3542C>A (p.Ser1181Ter) c.1124C>A (p.Ser375Ter) c.*1980C>A (n.*1980C>A) n.3366C>A c.1175C>A (p.Ser392Ter) c.3296C>A (p.Ser1099Ter) c.2567C>A (p.Ser856Ter) c.1727C>A (p.Ser576Ter) | |
| 16 | g.1520721A= | CA2201723741 | IFT140 | c.3541T= (p.Ser1181=) c.1123T= (p.Ser375=) c.*1979T= (n.*1979T=) n.3365T= c.1174T= (p.Ser392=) c.3295T= (p.Ser1099=) c.2566T= (p.Ser856=) c.1726T= (p.Ser576=) | |
| 16 | g.1520721A>C | CA394224930 | IFT140 | c.3541T>G (p.Ser1181Ala) c.1123T>G (p.Ser375Ala) c.*1979T>G (n.*1979T>G) n.3365T>G c.1174T>G (p.Ser392Ala) c.3295T>G (p.Ser1099Ala) c.2566T>G (p.Ser856Ala) c.1726T>G (p.Ser576Ala) | |
| 16 | g.1520721A>G | CA394224931 | IFT140 | c.3541T>C (p.Ser1181Pro) c.1123T>C (p.Ser375Pro) c.*1979T>C (n.*1979T>C) n.3365T>C c.1174T>C (p.Ser392Pro) c.3295T>C (p.Ser1099Pro) c.2566T>C (p.Ser856Pro) c.1726T>C (p.Ser576Pro) | dbSNP |
| 16 | g.1520721A>T | CA394224929 | IFT140 | c.3541T>A (p.Ser1181Thr) c.1123T>A (p.Ser375Thr) c.*1979T>A (n.*1979T>A) n.3365T>A c.1174T>A (p.Ser392Thr) c.3295T>A (p.Ser1099Thr) c.2566T>A (p.Ser856Thr) c.1726T>A (p.Ser576Thr) | |
| 16 | g.1520722G>A | CA492931906 | IFT140 | c.3540C>T (p.Ser1180=) c.1122C>T (p.Ser374=) c.*1978C>T (n.*1978C>T) n.3364C>T c.1173C>T (p.Ser391=) c.3294C>T (p.Ser1098=) c.2565C>T (p.Ser855=) c.1725C>T (p.Ser575=) | |
| 16 | g.1520722G>C | CA492931907 | IFT140 | c.3540C>G (p.Ser1180=) c.1122C>G (p.Ser374=) c.*1978C>G (n.*1978C>G) n.3364C>G c.1173C>G (p.Ser391=) c.3294C>G (p.Ser1098=) c.2565C>G (p.Ser855=) c.1725C>G (p.Ser575=) | |
| 16 | g.1520722G= | CA2201723742 | IFT140 | c.3540C= (p.Ser1180=) c.1122C= (p.Ser374=) c.*1978C= (n.*1978C=) n.3364C= c.1173C= (p.Ser391=) c.3294C= (p.Ser1098=) c.2565C= (p.Ser855=) c.1725C= (p.Ser575=) | |
| 16 | g.1520722G>T | CA492931908 | IFT140 | c.3540C>A (p.Ser1180=) c.1122C>A (p.Ser374=) c.*1978C>A (n.*1978C>A) n.3364C>A c.1173C>A (p.Ser391=) c.3294C>A (p.Ser1098=) c.2565C>A (p.Ser855=) c.1725C>A (p.Ser575=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520723G>A | CA394224933 | IFT140 | c.3539C>T (p.Ser1180Phe) c.1121C>T (p.Ser374Phe) c.*1977C>T (n.*1977C>T) n.3363C>T c.1172C>T (p.Ser391Phe) c.3293C>T (p.Ser1098Phe) c.2564C>T (p.Ser855Phe) c.1724C>T (p.Ser575Phe) | gnomAD v4 COSMIC |
| 16 | g.1520723G>C | CA394224932 | IFT140 | c.3539C>G (p.Ser1180Cys) c.1121C>G (p.Ser374Cys) c.*1977C>G (n.*1977C>G) n.3363C>G c.1172C>G (p.Ser391Cys) c.3293C>G (p.Ser1098Cys) c.2564C>G (p.Ser855Cys) c.1724C>G (p.Ser575Cys) | |
| 16 | g.1520723G>T | CA394224934 | IFT140 | c.3539C>A (p.Ser1180Tyr) c.1121C>A (p.Ser374Tyr) c.*1977C>A (n.*1977C>A) n.3363C>A c.1172C>A (p.Ser391Tyr) c.3293C>A (p.Ser1098Tyr) c.2564C>A (p.Ser855Tyr) c.1724C>A (p.Ser575Tyr) | |
| 16 | g.1520724A>C | CA394224935 | IFT140 | c.3538T>G (p.Ser1180Ala) c.1120T>G (p.Ser374Ala) c.*1976T>G (n.*1976T>G) n.3362T>G c.1171T>G (p.Ser391Ala) c.3292T>G (p.Ser1098Ala) c.2563T>G (p.Ser855Ala) c.1723T>G (p.Ser575Ala) | |
| 16 | g.1520724A>G | CA394224936 | IFT140 | c.3538T>C (p.Ser1180Pro) c.1120T>C (p.Ser374Pro) c.*1976T>C (n.*1976T>C) n.3362T>C c.1171T>C (p.Ser391Pro) c.3292T>C (p.Ser1098Pro) c.2563T>C (p.Ser855Pro) c.1723T>C (p.Ser575Pro) | |
| 16 | g.1520724A>T | CA394224937 | IFT140 | c.3538T>A (p.Ser1180Thr) c.1120T>A (p.Ser374Thr) c.*1976T>A (n.*1976T>A) n.3362T>A c.1171T>A (p.Ser391Thr) c.3292T>A (p.Ser1098Thr) c.2563T>A (p.Ser855Thr) c.1723T>A (p.Ser575Thr) | |
| 16 | g.1520725G>A | CA492931909 | IFT140 | c.3537C>T (p.Asp1179=) c.1119C>T (p.Asp373=) c.*1975C>T (n.*1975C>T) n.3361C>T c.1170C>T (p.Asp390=) c.3291C>T (p.Asp1097=) c.2562C>T (p.Asp854=) c.1722C>T (p.Asp574=) | |
| 16 | g.1520725G>C | CA394224938 | IFT140 | c.3537C>G (p.Asp1179Glu) c.1119C>G (p.Asp373Glu) c.*1975C>G (n.*1975C>G) n.3361C>G c.1170C>G (p.Asp390Glu) c.3291C>G (p.Asp1097Glu) c.2562C>G (p.Asp854Glu) c.1722C>G (p.Asp574Glu) | gnomAD v4 |
| 16 | g.1520725G>T | CA394224939 | IFT140 | c.3537C>A (p.Asp1179Glu) c.1119C>A (p.Asp373Glu) c.*1975C>A (n.*1975C>A) n.3361C>A c.1170C>A (p.Asp390Glu) c.3291C>A (p.Asp1097Glu) c.2562C>A (p.Asp854Glu) c.1722C>A (p.Asp574Glu) | |
| 16 | g.1520726T>A | CA394224940 | IFT140 | c.3536A>T (p.Asp1179Val) c.1118A>T (p.Asp373Val) c.*1974A>T (n.*1974A>T) n.3360A>T c.1169A>T (p.Asp390Val) c.3290A>T (p.Asp1097Val) c.2561A>T (p.Asp854Val) c.1721A>T (p.Asp574Val) | dbSNP |
| 16 | g.1520726T>C | CA394224941 | IFT140 | c.3536A>G (p.Asp1179Gly) c.1118A>G (p.Asp373Gly) c.*1974A>G (n.*1974A>G) n.3360A>G c.1169A>G (p.Asp390Gly) c.3290A>G (p.Asp1097Gly) c.2561A>G (p.Asp854Gly) c.1721A>G (p.Asp574Gly) | |
| 16 | g.1520726T>G | CA394224942 | IFT140 | c.3536A>C (p.Asp1179Ala) c.1118A>C (p.Asp373Ala) c.*1974A>C (n.*1974A>C) n.3360A>C c.1169A>C (p.Asp390Ala) c.3290A>C (p.Asp1097Ala) c.2561A>C (p.Asp854Ala) c.1721A>C (p.Asp574Ala) | |
| 16 | g.1520726T= | CA2201723743 | IFT140 | c.3536A= (p.Asp1179=) c.1118A= (p.Asp373=) c.*1974A= (n.*1974A=) n.3360A= c.1169A= (p.Asp390=) c.3290A= (p.Asp1097=) c.2561A= (p.Asp854=) c.1721A= (p.Asp574=) | |
| 16 | g.1520727C>A | CA394224943 | IFT140 | c.3535G>T (p.Asp1179Tyr) c.1117G>T (p.Asp373Tyr) c.*1973G>T (n.*1973G>T) n.3359G>T c.1168G>T (p.Asp390Tyr) c.3289G>T (p.Asp1097Tyr) c.2560G>T (p.Asp854Tyr) c.1720G>T (p.Asp574Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520727C= | CA2201723744 | IFT140 | c.3535G= (p.Asp1179=) c.1117G= (p.Asp373=) c.*1973G= (n.*1973G=) n.3359G= c.1168G= (p.Asp390=) c.3289G= (p.Asp1097=) c.2560G= (p.Asp854=) c.1720G= (p.Asp574=) | |
| 16 | g.1520727C>G | CA394224944 | IFT140 | c.3535G>C (p.Asp1179His) c.1117G>C (p.Asp373His) c.*1973G>C (n.*1973G>C) n.3359G>C c.1168G>C (p.Asp390His) c.3289G>C (p.Asp1097His) c.2560G>C (p.Asp854His) c.1720G>C (p.Asp574His) | |
| 16 | g.1520727C>T | CA394224945 | IFT140 | c.3535G>A (p.Asp1179Asn) c.1117G>A (p.Asp373Asn) c.*1973G>A (n.*1973G>A) n.3359G>A c.1168G>A (p.Asp390Asn) c.3289G>A (p.Asp1097Asn) c.2560G>A (p.Asp854Asn) c.1720G>A (p.Asp574Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520727_1520742delinsCCTTGGCCACGGTCAT | CA2201723745 | IFT140 | c.3520_3535delinsATGACCGTGGCCAAGG (p.Met1174=) c.1102_1117delinsATGACCGTGGCCAAGG (p.Met368=) c.*1958_*1973delinsATGACCGTGGCCAAGG (n.*1958_*1973delinsATGACCGTGGCCAAGG) n.3344_3359delinsATGACCGTGGCCAAGG c.1153_1168delinsATGACCGTGGCCAAGG (p.Met385=) c.3274_3289delinsATGACCGTGGCCAAGG (p.Met1092=) c.2545_2560delinsATGACCGTGGCCAAGG (p.Met849=) c.1705_1720delinsATGACCGTGGCCAAGG (p.Met569=) | |
| 16 | g.1520728C>A | CA394224947 | IFT140 | c.3534G>T (p.Lys1178Asn) c.1116G>T (p.Lys372Asn) c.*1972G>T (n.*1972G>T) n.3358G>T c.1167G>T (p.Lys389Asn) c.3288G>T (p.Lys1096Asn) c.2559G>T (p.Lys853Asn) c.1719G>T (p.Lys573Asn) | |
| 16 | g.1520728C>G | CA394224946 | IFT140 | c.3534G>C (p.Lys1178Asn) c.1116G>C (p.Lys372Asn) c.*1972G>C (n.*1972G>C) n.3358G>C c.1167G>C (p.Lys389Asn) c.3288G>C (p.Lys1096Asn) c.2559G>C (p.Lys853Asn) c.1719G>C (p.Lys573Asn) | gnomAD v4 |
| 16 | g.1520728C>T | CA492931910 | IFT140 | c.3534G>A (p.Lys1178=) c.1116G>A (p.Lys372=) c.*1972G>A (n.*1972G>A) n.3358G>A c.1167G>A (p.Lys389=) c.3288G>A (p.Lys1096=) c.2559G>A (p.Lys853=) c.1719G>A (p.Lys573=) | |
| 16 | g.1520731_1520745del | CA276675966 | IFT140 | c.3520_3534del (p.Met1174_Lys1178del) c.1102_1116del (p.Met368_Lys372del) c.*1958_*1972del (n.*1958_*1972del) n.3344_3358del c.1153_1167del (p.Met385_Lys389del) c.3274_3288del (p.Met1092_Lys1096del) c.2545_2559del (p.Met849_Lys853del) c.1705_1719del (p.Met569_Lys573del) | dbSNP |
| 16 | g.1520729T>A | CA394224948 | IFT140 | c.3533A>T (p.Lys1178Met) c.1115A>T (p.Lys372Met) c.*1971A>T (n.*1971A>T) n.3357A>T c.1166A>T (p.Lys389Met) c.3287A>T (p.Lys1096Met) c.2558A>T (p.Lys853Met) c.1718A>T (p.Lys573Met) | |
| 16 | g.1520729T>C | CA7813124 | IFT140 | c.3533A>G (p.Lys1178Arg) c.1115A>G (p.Lys372Arg) c.*1971A>G (n.*1971A>G) n.3357A>G c.1166A>G (p.Lys389Arg) c.3287A>G (p.Lys1096Arg) c.2558A>G (p.Lys853Arg) c.1718A>G (p.Lys573Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520729T>G | CA394224949 | IFT140 | c.3533A>C (p.Lys1178Thr) c.1115A>C (p.Lys372Thr) c.*1971A>C (n.*1971A>C) n.3357A>C c.1166A>C (p.Lys389Thr) c.3287A>C (p.Lys1096Thr) c.2558A>C (p.Lys853Thr) c.1718A>C (p.Lys573Thr) | |
| 16 | g.1520729T= | CA2201723746 | IFT140 | c.3533A= (p.Lys1178=) c.1115A= (p.Lys372=) c.*1971A= (n.*1971A=) n.3357A= c.1166A= (p.Lys389=) c.3287A= (p.Lys1096=) c.2558A= (p.Lys853=) c.1718A= (p.Lys573=) | |
| 16 | g.1520730T>A | CA394224950 | IFT140 | c.3532A>T (p.Lys1178Ter) c.1114A>T (p.Lys372Ter) c.*1970A>T (n.*1970A>T) n.3356A>T c.1165A>T (p.Lys389Ter) c.3286A>T (p.Lys1096Ter) c.2557A>T (p.Lys853Ter) c.1717A>T (p.Lys573Ter) | |
| 16 | g.1520730T>C | CA7813125 | IFT140 | c.3532A>G (p.Lys1178Glu) c.1114A>G (p.Lys372Glu) c.*1970A>G (n.*1970A>G) n.3356A>G c.1165A>G (p.Lys389Glu) c.3286A>G (p.Lys1096Glu) c.2557A>G (p.Lys853Glu) c.1717A>G (p.Lys573Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520730T>G | CA394224951 | IFT140 | c.3532A>C (p.Lys1178Gln) c.1114A>C (p.Lys372Gln) c.*1970A>C (n.*1970A>C) n.3356A>C c.1165A>C (p.Lys389Gln) c.3286A>C (p.Lys1096Gln) c.2557A>C (p.Lys853Gln) c.1717A>C (p.Lys573Gln) | |
| 16 | g.1520730T= | CA2201723747 | IFT140 | c.3532A= (p.Lys1178=) c.1114A= (p.Lys372=) c.*1970A= (n.*1970A=) n.3356A= c.1165A= (p.Lys389=) c.3286A= (p.Lys1096=) c.2557A= (p.Lys853=) c.1717A= (p.Lys573=) | |
| 16 | g.1520731G>A | CA492931914 | IFT140 | c.3531C>T (p.Ala1177=) c.1113C>T (p.Ala371=) c.*1969C>T (n.*1969C>T) n.3355C>T c.1164C>T (p.Ala388=) c.3285C>T (p.Ala1095=) c.2556C>T (p.Ala852=) c.1716C>T (p.Ala572=) | gnomAD v4 |
| 16 | g.1520731G>C | CA492931913 | IFT140 | c.3531C>G (p.Ala1177=) c.1113C>G (p.Ala371=) c.*1969C>G (n.*1969C>G) n.3355C>G c.1164C>G (p.Ala388=) c.3285C>G (p.Ala1095=) c.2556C>G (p.Ala852=) c.1716C>G (p.Ala572=) | |
| 16 | g.1520731G>T | CA492931911 | IFT140 | c.3531C>A (p.Ala1177=) c.1113C>A (p.Ala371=) c.*1969C>A (n.*1969C>A) n.3355C>A c.1164C>A (p.Ala388=) c.3285C>A (p.Ala1095=) c.2556C>A (p.Ala852=) c.1716C>A (p.Ala572=) | gnomAD v4 |
| 16 | g.1520732G>A | CA394224952 | IFT140 | c.3530C>T (p.Ala1177Val) c.1112C>T (p.Ala371Val) c.*1968C>T (n.*1968C>T) n.3354C>T c.1163C>T (p.Ala388Val) c.3284C>T (p.Ala1095Val) c.2555C>T (p.Ala852Val) c.1715C>T (p.Ala572Val) | |
| 16 | g.1520732G>C | CA394224953 | IFT140 | c.3530C>G (p.Ala1177Gly) c.1112C>G (p.Ala371Gly) c.*1968C>G (n.*1968C>G) n.3354C>G c.1163C>G (p.Ala388Gly) c.3284C>G (p.Ala1095Gly) c.2555C>G (p.Ala852Gly) c.1715C>G (p.Ala572Gly) | |
| 16 | g.1520732G>T | CA394224954 | IFT140 | c.3530C>A (p.Ala1177Asp) c.1112C>A (p.Ala371Asp) c.*1968C>A (n.*1968C>A) n.3354C>A c.1163C>A (p.Ala388Asp) c.3284C>A (p.Ala1095Asp) c.2555C>A (p.Ala852Asp) c.1715C>A (p.Ala572Asp) | gnomAD v4 |
| 16 | g.1520733C>A | CA394224955 | IFT140 | c.3529G>T (p.Ala1177Ser) c.1111G>T (p.Ala371Ser) c.*1967G>T (n.*1967G>T) n.3353G>T c.1162G>T (p.Ala388Ser) c.3283G>T (p.Ala1095Ser) c.2554G>T (p.Ala852Ser) c.1714G>T (p.Ala572Ser) | |
| 16 | g.1520733C>G | CA394224956 | IFT140 | c.3529G>C (p.Ala1177Pro) c.1111G>C (p.Ala371Pro) c.*1967G>C (n.*1967G>C) n.3353G>C c.1162G>C (p.Ala388Pro) c.3283G>C (p.Ala1095Pro) c.2554G>C (p.Ala852Pro) c.1714G>C (p.Ala572Pro) | |
| 16 | g.1520733C>T | CA394224957 | IFT140 | c.3529G>A (p.Ala1177Thr) c.1111G>A (p.Ala371Thr) c.*1967G>A (n.*1967G>A) n.3353G>A c.1162G>A (p.Ala388Thr) c.3283G>A (p.Ala1095Thr) c.2554G>A (p.Ala852Thr) c.1714G>A (p.Ala572Thr) | |
| 16 | g.1520734C>A | CA492931915 | IFT140 | c.3528G>T (p.Val1176=) c.1110G>T (p.Val370=) c.*1966G>T (n.*1966G>T) n.3352G>T c.1161G>T (p.Val387=) c.3282G>T (p.Val1094=) c.2553G>T (p.Val851=) c.1713G>T (p.Val571=) | |
| 16 | g.1520734C>G | CA492931917 | IFT140 | c.3528G>C (p.Val1176=) c.1110G>C (p.Val370=) c.*1966G>C (n.*1966G>C) n.3352G>C c.1161G>C (p.Val387=) c.3282G>C (p.Val1094=) c.2553G>C (p.Val851=) c.1713G>C (p.Val571=) | |
| 16 | g.1520734C>T | CA492931916 | IFT140 | c.3528G>A (p.Val1176=) c.1110G>A (p.Val370=) c.*1966G>A (n.*1966G>A) n.3352G>A c.1161G>A (p.Val387=) c.3282G>A (p.Val1094=) c.2553G>A (p.Val851=) c.1713G>A (p.Val571=) | ClinVar gnomAD v4 |
| 16 | g.1520735A>C | CA394224959 | IFT140 | c.3527T>G (p.Val1176Gly) c.1109T>G (p.Val370Gly) c.*1965T>G (n.*1965T>G) n.3351T>G c.1160T>G (p.Val387Gly) c.3281T>G (p.Val1094Gly) c.2552T>G (p.Val851Gly) c.1712T>G (p.Val571Gly) | |
| 16 | g.1520735A>G | CA394224960 | IFT140 | c.3527T>C (p.Val1176Ala) c.1109T>C (p.Val370Ala) c.*1965T>C (n.*1965T>C) n.3351T>C c.1160T>C (p.Val387Ala) c.3281T>C (p.Val1094Ala) c.2552T>C (p.Val851Ala) c.1712T>C (p.Val571Ala) | |
| 16 | g.1520735A>T | CA394224958 | IFT140 | c.3527T>A (p.Val1176Glu) c.1109T>A (p.Val370Glu) c.*1965T>A (n.*1965T>A) n.3351T>A c.1160T>A (p.Val387Glu) c.3281T>A (p.Val1094Glu) c.2552T>A (p.Val851Glu) c.1712T>A (p.Val571Glu) | gnomAD v4 |
| 16 | g.1520736C>A | CA394224961 | IFT140 | c.3526G>T (p.Val1176Leu) c.1108G>T (p.Val370Leu) c.*1964G>T (n.*1964G>T) n.3350G>T c.1159G>T (p.Val387Leu) c.3280G>T (p.Val1094Leu) c.2551G>T (p.Val851Leu) c.1711G>T (p.Val571Leu) | ClinVar |
| 16 | g.1520736C= | CA2201723748 | IFT140 | c.3526G= (p.Val1176=) c.1108G= (p.Val370=) c.*1964G= (n.*1964G=) n.3350G= c.1159G= (p.Val387=) c.3280G= (p.Val1094=) c.2551G= (p.Val851=) c.1711G= (p.Val571=) | |
| 16 | g.1520736C>G | CA394224962 | IFT140 | c.3526G>C (p.Val1176Leu) c.1108G>C (p.Val370Leu) c.*1964G>C (n.*1964G>C) n.3350G>C c.1159G>C (p.Val387Leu) c.3280G>C (p.Val1094Leu) c.2551G>C (p.Val851Leu) c.1711G>C (p.Val571Leu) | |
| 16 | g.1520736C>T | CA7813126 | IFT140 | c.3526G>A (p.Val1176Met) c.1108G>A (p.Val370Met) c.*1964G>A (n.*1964G>A) n.3350G>A c.1159G>A (p.Val387Met) c.3280G>A (p.Val1094Met) c.2551G>A (p.Val851Met) c.1711G>A (p.Val571Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520737G>A | CA492931918 | IFT140 | c.3525C>T (p.Thr1175=) c.1107C>T (p.Thr369=) c.*1963C>T (n.*1963C>T) n.3349C>T c.1158C>T (p.Thr386=) c.3279C>T (p.Thr1093=) c.2550C>T (p.Thr850=) c.1710C>T (p.Thr570=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520737G>C | CA7813127 | IFT140 | c.3525C>G (p.Thr1175=) c.1107C>G (p.Thr369=) c.*1963C>G (n.*1963C>G) n.3349C>G c.1158C>G (p.Thr386=) c.3279C>G (p.Thr1093=) c.2550C>G (p.Thr850=) c.1710C>G (p.Thr570=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520737G= | CA2201723749 | IFT140 | c.3525C= (p.Thr1175=) c.1107C= (p.Thr369=) c.*1963C= (n.*1963C=) n.3349C= c.1158C= (p.Thr386=) c.3279C= (p.Thr1093=) c.2550C= (p.Thr850=) c.1710C= (p.Thr570=) | |
| 16 | g.1520737G>T | CA492931919 | IFT140 | c.3525C>A (p.Thr1175=) c.1107C>A (p.Thr369=) c.*1963C>A (n.*1963C>A) n.3349C>A c.1158C>A (p.Thr386=) c.3279C>A (p.Thr1093=) c.2550C>A (p.Thr850=) c.1710C>A (p.Thr570=) | |
| 16 | g.1520738G>A | CA394224963 | IFT140 | c.3524C>T (p.Thr1175Ile) c.1106C>T (p.Thr369Ile) c.*1962C>T (n.*1962C>T) n.3348C>T c.1157C>T (p.Thr386Ile) c.3278C>T (p.Thr1093Ile) c.2549C>T (p.Thr850Ile) c.1709C>T (p.Thr570Ile) | COSMIC |
| 16 | g.1520738G>C | CA394224964 | IFT140 | c.3524C>G (p.Thr1175Ser) c.1106C>G (p.Thr369Ser) c.*1962C>G (n.*1962C>G) n.3348C>G c.1157C>G (p.Thr386Ser) c.3278C>G (p.Thr1093Ser) c.2549C>G (p.Thr850Ser) c.1709C>G (p.Thr570Ser) | |
| 16 | g.1520738G>T | CA394224965 | IFT140 | c.3524C>A (p.Thr1175Asn) c.1106C>A (p.Thr369Asn) c.*1962C>A (n.*1962C>A) n.3348C>A c.1157C>A (p.Thr386Asn) c.3278C>A (p.Thr1093Asn) c.2549C>A (p.Thr850Asn) c.1709C>A (p.Thr570Asn) | gnomAD v4 |
| 16 | g.1520739T>A | CA394224966 | IFT140 | c.3523A>T (p.Thr1175Ser) c.1105A>T (p.Thr369Ser) c.*1961A>T (n.*1961A>T) n.3347A>T c.1156A>T (p.Thr386Ser) c.3277A>T (p.Thr1093Ser) c.2548A>T (p.Thr850Ser) c.1708A>T (p.Thr570Ser) | |
| 16 | g.1520739T>C | CA394224967 | IFT140 | c.3523A>G (p.Thr1175Ala) c.1105A>G (p.Thr369Ala) c.*1961A>G (n.*1961A>G) n.3347A>G c.1156A>G (p.Thr386Ala) c.3277A>G (p.Thr1093Ala) c.2548A>G (p.Thr850Ala) c.1708A>G (p.Thr570Ala) | |
| 16 | g.1520739T>G | CA394224968 | IFT140 | c.3523A>C (p.Thr1175Pro) c.1105A>C (p.Thr369Pro) c.*1961A>C (n.*1961A>C) n.3347A>C c.1156A>C (p.Thr386Pro) c.3277A>C (p.Thr1093Pro) c.2548A>C (p.Thr850Pro) c.1708A>C (p.Thr570Pro) | |
| 16 | g.1520740C>A | CA394224969 | IFT140 | c.3522G>T (p.Met1174Ile) c.1104G>T (p.Met368Ile) c.*1960G>T (n.*1960G>T) n.3346G>T c.1155G>T (p.Met385Ile) c.3276G>T (p.Met1092Ile) c.2547G>T (p.Met849Ile) c.1707G>T (p.Met569Ile) | gnomAD v4 |
| 16 | g.1520740C>G | CA394224970 | IFT140 | c.3522G>C (p.Met1174Ile) c.1104G>C (p.Met368Ile) c.*1960G>C (n.*1960G>C) n.3346G>C c.1155G>C (p.Met385Ile) c.3276G>C (p.Met1092Ile) c.2547G>C (p.Met849Ile) c.1707G>C (p.Met569Ile) | |
| 16 | g.1520740C>T | CA394224971 | IFT140 | c.3522G>A (p.Met1174Ile) c.1104G>A (p.Met368Ile) c.*1960G>A (n.*1960G>A) n.3346G>A c.1155G>A (p.Met385Ile) c.3276G>A (p.Met1092Ile) c.2547G>A (p.Met849Ile) c.1707G>A (p.Met569Ile) | |
| 16 | g.1520740_1520741delinsCA | CA2201723750 | IFT140 | c.3521_3522delinsTG (p.Met1174=) c.1103_1104delinsTG (p.Met368=) c.*1959_*1960delinsTG (n.*1959_*1960delinsTG) n.3345_3346delinsTG c.1154_1155delinsTG (p.Met385=) c.3275_3276delinsTG (p.Met1092=) c.2546_2547delinsTG (p.Met849=) c.1706_1707delinsTG (p.Met569=) | |
| 16 | g.1520741del | CA620701196 | IFT140 | c.3521del (p.Met1174ArgfsTer22) c.1103del (p.Met368ArgfsTer22) c.*1959del (n.*1959del) n.3345del c.1154del (p.Met385ArgfsTer22) c.3275del (p.Met1092ArgfsTer22) c.2546del (p.Met849ArgfsTer22) c.1706del (p.Met569ArgfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520741A= | CA2201723751 | IFT140 | c.3521T= (p.Met1174=) c.1103T= (p.Met368=) c.*1959T= (n.*1959T=) n.3345T= c.1154T= (p.Met385=) c.3275T= (p.Met1092=) c.2546T= (p.Met849=) c.1706T= (p.Met569=) | |
| 16 | g.1520741A>C | CA394224973 | IFT140 | c.3521T>G (p.Met1174Arg) c.1103T>G (p.Met368Arg) c.*1959T>G (n.*1959T>G) n.3345T>G c.1154T>G (p.Met385Arg) c.3275T>G (p.Met1092Arg) c.2546T>G (p.Met849Arg) c.1706T>G (p.Met569Arg) | |
| 16 | g.1520741A>G | CA394224972 | IFT140 | c.3521T>C (p.Met1174Thr) c.1103T>C (p.Met368Thr) c.*1959T>C (n.*1959T>C) n.3345T>C c.1154T>C (p.Met385Thr) c.3275T>C (p.Met1092Thr) c.2546T>C (p.Met849Thr) c.1706T>C (p.Met569Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520741A>T | CA7813128 | IFT140 | c.3521T>A (p.Met1174Lys) c.1103T>A (p.Met368Lys) c.*1959T>A (n.*1959T>A) n.3345T>A c.1154T>A (p.Met385Lys) c.3275T>A (p.Met1092Lys) c.2546T>A (p.Met849Lys) c.1706T>A (p.Met569Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520742T>A | CA394224974 | IFT140 | c.3520A>T (p.Met1174Leu) c.1102A>T (p.Met368Leu) c.*1958A>T (n.*1958A>T) n.3344A>T c.1153A>T (p.Met385Leu) c.3274A>T (p.Met1092Leu) c.2545A>T (p.Met849Leu) c.1705A>T (p.Met569Leu) | |
| 16 | g.1520742T>C | CA394224975 | IFT140 | c.3520A>G (p.Met1174Val) c.1102A>G (p.Met368Val) c.*1958A>G (n.*1958A>G) n.3344A>G c.1153A>G (p.Met385Val) c.3274A>G (p.Met1092Val) c.2545A>G (p.Met849Val) c.1705A>G (p.Met569Val) | |
| 16 | g.1520742T>G | CA394224976 | IFT140 | c.3520A>C (p.Met1174Leu) c.1102A>C (p.Met368Leu) c.*1958A>C (n.*1958A>C) n.3344A>C c.1153A>C (p.Met385Leu) c.3274A>C (p.Met1092Leu) c.2545A>C (p.Met849Leu) c.1705A>C (p.Met569Leu) | gnomAD v4 |
| 16 | g.1520743C>A | CA394224977 | IFT140 | c.3519G>T (p.Lys1173Asn) c.1101G>T (p.Lys367Asn) c.*1957G>T (n.*1957G>T) n.3343G>T c.1152G>T (p.Lys384Asn) c.3273G>T (p.Lys1091Asn) c.2544G>T (p.Lys848Asn) c.1704G>T (p.Lys568Asn) | |
| 16 | g.1520743C>G | CA394224978 | IFT140 | c.3519G>C (p.Lys1173Asn) c.1101G>C (p.Lys367Asn) c.*1957G>C (n.*1957G>C) n.3343G>C c.1152G>C (p.Lys384Asn) c.3273G>C (p.Lys1091Asn) c.2544G>C (p.Lys848Asn) c.1704G>C (p.Lys568Asn) | |
| 16 | g.1520743C>T | CA492931920 | IFT140 | c.3519G>A (p.Lys1173=) c.1101G>A (p.Lys367=) c.*1957G>A (n.*1957G>A) n.3343G>A c.1152G>A (p.Lys384=) c.3273G>A (p.Lys1091=) c.2544G>A (p.Lys848=) c.1704G>A (p.Lys568=) | |
| 16 | g.1520744T>A | CA394224979 | IFT140 | c.3518A>T (p.Lys1173Met) c.1100A>T (p.Lys367Met) c.*1956A>T (n.*1956A>T) n.3342A>T c.1151A>T (p.Lys384Met) c.3272A>T (p.Lys1091Met) c.2543A>T (p.Lys848Met) c.1703A>T (p.Lys568Met) | |
| 16 | g.1520744T>C | CA394224980 | IFT140 | c.3518A>G (p.Lys1173Arg) c.1100A>G (p.Lys367Arg) c.*1956A>G (n.*1956A>G) n.3342A>G c.1151A>G (p.Lys384Arg) c.3272A>G (p.Lys1091Arg) c.2543A>G (p.Lys848Arg) c.1703A>G (p.Lys568Arg) | gnomAD v4 |
| 16 | g.1520744T>G | CA394224981 | IFT140 | c.3518A>C (p.Lys1173Thr) c.1100A>C (p.Lys367Thr) c.*1956A>C (n.*1956A>C) n.3342A>C c.1151A>C (p.Lys384Thr) c.3272A>C (p.Lys1091Thr) c.2543A>C (p.Lys848Thr) c.1703A>C (p.Lys568Thr) | |
| 16 | g.1520747del | CA2631006491 | IFT140 | c.3518del (p.Lys1173ArgfsTer2) c.1100del (p.Lys367ArgfsTer2) c.*1956del (n.*1956del) n.3342del c.1151del (p.Lys384ArgfsTer2) c.3272del (p.Lys1091ArgfsTer2) c.2543del (p.Lys848ArgfsTer2) c.1703del (p.Lys568ArgfsTer2) | gnomAD v4 |
| 16 | g.1520745T>A | CA394224982 | IFT140 | c.3517A>T (p.Lys1173Ter) c.1099A>T (p.Lys367Ter) c.*1955A>T (n.*1955A>T) n.3341A>T c.1150A>T (p.Lys384Ter) c.3271A>T (p.Lys1091Ter) c.2542A>T (p.Lys848Ter) c.1702A>T (p.Lys568Ter) | |
| 16 | g.1520745T>C | CA394224983 | IFT140 | c.3517A>G (p.Lys1173Glu) c.1099A>G (p.Lys367Glu) c.*1955A>G (n.*1955A>G) n.3341A>G c.1150A>G (p.Lys384Glu) c.3271A>G (p.Lys1091Glu) c.2542A>G (p.Lys848Glu) c.1702A>G (p.Lys568Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520745T>G | CA394224984 | IFT140 | c.3517A>C (p.Lys1173Gln) c.1099A>C (p.Lys367Gln) c.*1955A>C (n.*1955A>C) n.3341A>C c.1150A>C (p.Lys384Gln) c.3271A>C (p.Lys1091Gln) c.2542A>C (p.Lys848Gln) c.1702A>C (p.Lys568Gln) | |
| 16 | g.1520745T= | CA2201723752 | IFT140 | c.3517A= (p.Lys1173=) c.1099A= (p.Lys367=) c.*1955A= (n.*1955A=) n.3341A= c.1150A= (p.Lys384=) c.3271A= (p.Lys1091=) c.2542A= (p.Lys848=) c.1702A= (p.Lys568=) | |
| 16 | g.1520746T>A | CA394224985 | IFT140 | c.3516A>T (p.Glu1172Asp) c.1098A>T (p.Glu366Asp) c.*1954A>T (n.*1954A>T) n.3340A>T c.1149A>T (p.Glu383Asp) c.3270A>T (p.Glu1090Asp) c.2541A>T (p.Glu847Asp) c.1701A>T (p.Glu567Asp) | |
| 16 | g.1520746T>C | CA492931921 | IFT140 | c.3516A>G (p.Glu1172=) c.1098A>G (p.Glu366=) c.*1954A>G (n.*1954A>G) n.3340A>G c.1149A>G (p.Glu383=) c.3270A>G (p.Glu1090=) c.2541A>G (p.Glu847=) c.1701A>G (p.Glu567=) | dbSNP |
| 16 | g.1520746T>G | CA394224986 | IFT140 | c.3516A>C (p.Glu1172Asp) c.1098A>C (p.Glu366Asp) c.*1954A>C (n.*1954A>C) n.3340A>C c.1149A>C (p.Glu383Asp) c.3270A>C (p.Glu1090Asp) c.2541A>C (p.Glu847Asp) c.1701A>C (p.Glu567Asp) | |
| 16 | g.1520747T>A | CA394224988 | IFT140 | c.3515A>T (p.Glu1172Val) c.1097A>T (p.Glu366Val) c.*1953A>T (n.*1953A>T) n.3339A>T c.1148A>T (p.Glu383Val) c.3269A>T (p.Glu1090Val) c.2540A>T (p.Glu847Val) c.1700A>T (p.Glu567Val) | |
| 16 | g.1520747T>C | CA394224989 | IFT140 | c.3515A>G (p.Glu1172Gly) c.1097A>G (p.Glu366Gly) c.*1953A>G (n.*1953A>G) n.3339A>G c.1148A>G (p.Glu383Gly) c.3269A>G (p.Glu1090Gly) c.2540A>G (p.Glu847Gly) c.1700A>G (p.Glu567Gly) | |
| 16 | g.1520747T>G | CA394224987 | IFT140 | c.3515A>C (p.Glu1172Ala) c.1097A>C (p.Glu366Ala) c.*1953A>C (n.*1953A>C) n.3339A>C c.1148A>C (p.Glu383Ala) c.3269A>C (p.Glu1090Ala) c.2540A>C (p.Glu847Ala) c.1700A>C (p.Glu567Ala) | |
| 16 | g.1520748C>A | CA394224992 | IFT140 | c.3514G>T (p.Glu1172Ter) c.1096G>T (p.Glu366Ter) c.*1952G>T (n.*1952G>T) n.3338G>T c.1147G>T (p.Glu383Ter) c.3268G>T (p.Glu1090Ter) c.2539G>T (p.Glu847Ter) c.1699G>T (p.Glu567Ter) | |
| 16 | g.1520748C>G | CA394224990 | IFT140 | c.3514G>C (p.Glu1172Gln) c.1096G>C (p.Glu366Gln) c.*1952G>C (n.*1952G>C) n.3338G>C c.1147G>C (p.Glu383Gln) c.3268G>C (p.Glu1090Gln) c.2539G>C (p.Glu847Gln) c.1699G>C (p.Glu567Gln) | |
| 16 | g.1520748C>T | CA394224991 | IFT140 | c.3514G>A (p.Glu1172Lys) c.1096G>A (p.Glu366Lys) c.*1952G>A (n.*1952G>A) n.3338G>A c.1147G>A (p.Glu383Lys) c.3268G>A (p.Glu1090Lys) c.2539G>A (p.Glu847Lys) c.1699G>A (p.Glu567Lys) | |
| 16 | g.1520749C>A | CA492931922 | IFT140 | c.3513G>T (p.Ala1171=) c.1095G>T (p.Ala365=) c.*1951G>T (n.*1951G>T) n.3337G>T c.1146G>T (p.Ala382=) c.3267G>T (p.Ala1089=) c.2538G>T (p.Ala846=) c.1698G>T (p.Ala566=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520749C= | CA2201723753 | IFT140 | c.3513G= (p.Ala1171=) c.1095G= (p.Ala365=) c.*1951G= (n.*1951G=) n.3337G= c.1146G= (p.Ala382=) c.3267G= (p.Ala1089=) c.2538G= (p.Ala846=) c.1698G= (p.Ala566=) | |
| 16 | g.1520749C>G | CA492931923 | IFT140 | c.3513G>C (p.Ala1171=) c.1095G>C (p.Ala365=) c.*1951G>C (n.*1951G>C) n.3337G>C c.1146G>C (p.Ala382=) c.3267G>C (p.Ala1089=) c.2538G>C (p.Ala846=) c.1698G>C (p.Ala566=) | |
| 16 | g.1520749C>T | CA7813129 | IFT140 | c.3513G>A (p.Ala1171=) c.1095G>A (p.Ala365=) c.*1951G>A (n.*1951G>A) n.3337G>A c.1146G>A (p.Ala382=) c.3267G>A (p.Ala1089=) c.2538G>A (p.Ala846=) c.1698G>A (p.Ala566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520750G>A | CA394224993 | IFT140 | c.3512C>T (p.Ala1171Val) c.1094C>T (p.Ala365Val) c.*1950C>T (n.*1950C>T) n.3336C>T c.1145C>T (p.Ala382Val) c.3266C>T (p.Ala1089Val) c.2537C>T (p.Ala846Val) c.1697C>T (p.Ala566Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520750G>C | CA394224994 | IFT140 | c.3512C>G (p.Ala1171Gly) c.1094C>G (p.Ala365Gly) c.*1950C>G (n.*1950C>G) n.3336C>G c.1145C>G (p.Ala382Gly) c.3266C>G (p.Ala1089Gly) c.2537C>G (p.Ala846Gly) c.1697C>G (p.Ala566Gly) | |
| 16 | g.1520750G= | CA2201723754 | IFT140 | c.3512C= (p.Ala1171=) c.1094C= (p.Ala365=) c.*1950C= (n.*1950C=) n.3336C= c.1145C= (p.Ala382=) c.3266C= (p.Ala1089=) c.2537C= (p.Ala846=) c.1697C= (p.Ala566=) | |
| 16 | g.1520750G>T | CA394224995 | IFT140 | c.3512C>A (p.Ala1171Glu) c.1094C>A (p.Ala365Glu) c.*1950C>A (n.*1950C>A) n.3336C>A c.1145C>A (p.Ala382Glu) c.3266C>A (p.Ala1089Glu) c.2537C>A (p.Ala846Glu) c.1697C>A (p.Ala566Glu) | |
| 16 | g.1520751C>A | CA394224996 | IFT140 | c.3511G>T (p.Ala1171Ser) c.1093G>T (p.Ala365Ser) c.*1949G>T (n.*1949G>T) n.3335G>T c.1144G>T (p.Ala382Ser) c.3265G>T (p.Ala1089Ser) c.2536G>T (p.Ala846Ser) c.1696G>T (p.Ala566Ser) | |
| 16 | g.1520751C= | CA2201723755 | IFT140 | c.3511G= (p.Ala1171=) c.1093G= (p.Ala365=) c.*1949G= (n.*1949G=) n.3335G= c.1144G= (p.Ala382=) c.3265G= (p.Ala1089=) c.2536G= (p.Ala846=) c.1696G= (p.Ala566=) | |
| 16 | g.1520751C>G | CA394224997 | IFT140 | c.3511G>C (p.Ala1171Pro) c.1093G>C (p.Ala365Pro) c.*1949G>C (n.*1949G>C) n.3335G>C c.1144G>C (p.Ala382Pro) c.3265G>C (p.Ala1089Pro) c.2536G>C (p.Ala846Pro) c.1696G>C (p.Ala566Pro) | |
| 16 | g.1520751C>T | CA394224998 | IFT140 | c.3511G>A (p.Ala1171Thr) c.1093G>A (p.Ala365Thr) c.*1949G>A (n.*1949G>A) n.3335G>A c.1144G>A (p.Ala382Thr) c.3265G>A (p.Ala1089Thr) c.2536G>A (p.Ala846Thr) c.1696G>A (p.Ala566Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520752C>A | CA394224999 | IFT140 | c.3510G>T (p.Met1170Ile) c.1092G>T (p.Met364Ile) c.*1948G>T (n.*1948G>T) n.3334G>T c.1143G>T (p.Met381Ile) c.3264G>T (p.Met1088Ile) c.2535G>T (p.Met845Ile) c.1695G>T (p.Met565Ile) | |
| 16 | g.1520752C= | CA2201723756 | IFT140 | c.3510G= (p.Met1170=) c.1092G= (p.Met364=) c.*1948G= (n.*1948G=) n.3334G= c.1143G= (p.Met381=) c.3264G= (p.Met1088=) c.2535G= (p.Met845=) c.1695G= (p.Met565=) | |
| 16 | g.1520752C>G | CA394225000 | IFT140 | c.3510G>C (p.Met1170Ile) c.1092G>C (p.Met364Ile) c.*1948G>C (n.*1948G>C) n.3334G>C c.1143G>C (p.Met381Ile) c.3264G>C (p.Met1088Ile) c.2535G>C (p.Met845Ile) c.1695G>C (p.Met565Ile) | |
| 16 | g.1520752C>T | CA7813130 | IFT140 | c.3510G>A (p.Met1170Ile) c.1092G>A (p.Met364Ile) c.*1948G>A (n.*1948G>A) n.3334G>A c.1143G>A (p.Met381Ile) c.3264G>A (p.Met1088Ile) c.2535G>A (p.Met845Ile) c.1695G>A (p.Met565Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520753A>C | CA394225003 | IFT140 | c.3509T>G (p.Met1170Arg) c.1091T>G (p.Met364Arg) c.*1947T>G (n.*1947T>G) n.3333T>G c.1142T>G (p.Met381Arg) c.3263T>G (p.Met1088Arg) c.2534T>G (p.Met845Arg) c.1694T>G (p.Met565Arg) | |
| 16 | g.1520753A>G | CA394225002 | IFT140 | c.3509T>C (p.Met1170Thr) c.1091T>C (p.Met364Thr) c.*1947T>C (n.*1947T>C) n.3333T>C c.1142T>C (p.Met381Thr) c.3263T>C (p.Met1088Thr) c.2534T>C (p.Met845Thr) c.1694T>C (p.Met565Thr) | gnomAD v4 |
| 16 | g.1520753A>T | CA394225001 | IFT140 | c.3509T>A (p.Met1170Lys) c.1091T>A (p.Met364Lys) c.*1947T>A (n.*1947T>A) n.3333T>A c.1142T>A (p.Met381Lys) c.3263T>A (p.Met1088Lys) c.2534T>A (p.Met845Lys) c.1694T>A (p.Met565Lys) | |
| 16 | g.1520754T>A | CA394225004 | IFT140 | c.3508A>T (p.Met1170Leu) c.1090A>T (p.Met364Leu) c.*1946A>T (n.*1946A>T) n.3332A>T c.1141A>T (p.Met381Leu) c.3262A>T (p.Met1088Leu) c.2533A>T (p.Met845Leu) c.1693A>T (p.Met565Leu) | |
| 16 | g.1520754T>C | CA394225005 | IFT140 | c.3508A>G (p.Met1170Val) c.1090A>G (p.Met364Val) c.*1946A>G (n.*1946A>G) n.3332A>G c.1141A>G (p.Met381Val) c.3262A>G (p.Met1088Val) c.2533A>G (p.Met845Val) c.1693A>G (p.Met565Val) | |
| 16 | g.1520754T>G | CA394225006 | IFT140 | c.3508A>C (p.Met1170Leu) c.1090A>C (p.Met364Leu) c.*1946A>C (n.*1946A>C) n.3332A>C c.1141A>C (p.Met381Leu) c.3262A>C (p.Met1088Leu) c.2533A>C (p.Met845Leu) c.1693A>C (p.Met565Leu) | |
| 16 | g.1520755C>A | CA394225007 | IFT140 | c.3507G>T (p.Glu1169Asp) c.1089G>T (p.Glu363Asp) c.*1945G>T (n.*1945G>T) n.3331G>T c.1140G>T (p.Glu380Asp) c.3261G>T (p.Glu1087Asp) c.2532G>T (p.Glu844Asp) c.1692G>T (p.Glu564Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520755C= | CA2201723757 | IFT140 | c.3507G= (p.Glu1169=) c.1089G= (p.Glu363=) c.*1945G= (n.*1945G=) n.3331G= c.1140G= (p.Glu380=) c.3261G= (p.Glu1087=) c.2532G= (p.Glu844=) c.1692G= (p.Glu564=) | |
| 16 | g.1520755C>G | CA394225008 | IFT140 | c.3507G>C (p.Glu1169Asp) c.1089G>C (p.Glu363Asp) c.*1945G>C (n.*1945G>C) n.3331G>C c.1140G>C (p.Glu380Asp) c.3261G>C (p.Glu1087Asp) c.2532G>C (p.Glu844Asp) c.1692G>C (p.Glu564Asp) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1520755C>T | CA492931924 | IFT140 | c.3507G>A (p.Glu1169=) c.1089G>A (p.Glu363=) c.*1945G>A (n.*1945G>A) n.3331G>A c.1140G>A (p.Glu380=) c.3261G>A (p.Glu1087=) c.2532G>A (p.Glu844=) c.1692G>A (p.Glu564=) | |
| 16 | g.1520758_1520760del | CA2631006492 | IFT140 | c.3505_3507del (p.Glu1169del) c.1087_1089del (p.Glu363del) c.*1943_*1945del (n.*1943_*1945del) n.3329_3331del c.1138_1140del (p.Glu380del) c.3259_3261del (p.Glu1087del) c.2530_2532del (p.Glu844del) c.1690_1692del (p.Glu564del) | gnomAD v4 |
| 16 | g.1520756T>A | CA394225009 | IFT140 | c.3506A>T (p.Glu1169Val) c.1088A>T (p.Glu363Val) c.*1944A>T (n.*1944A>T) n.3330A>T c.1139A>T (p.Glu380Val) c.3260A>T (p.Glu1087Val) c.2531A>T (p.Glu844Val) c.1691A>T (p.Glu564Val) | |
| 16 | g.1520756T>C | CA394225010 | IFT140 | c.3506A>G (p.Glu1169Gly) c.1088A>G (p.Glu363Gly) c.*1944A>G (n.*1944A>G) n.3330A>G c.1139A>G (p.Glu380Gly) c.3260A>G (p.Glu1087Gly) c.2531A>G (p.Glu844Gly) c.1691A>G (p.Glu564Gly) | gnomAD v4 |
| 16 | g.1520756T>G | CA394225011 | IFT140 | c.3506A>C (p.Glu1169Ala) c.1088A>C (p.Glu363Ala) c.*1944A>C (n.*1944A>C) n.3330A>C c.1139A>C (p.Glu380Ala) c.3260A>C (p.Glu1087Ala) c.2531A>C (p.Glu844Ala) c.1691A>C (p.Glu564Ala) | |
| 16 | g.1520757C>A | CA394225012 | IFT140 | c.3505G>T (p.Glu1169Ter) c.1087G>T (p.Glu363Ter) c.*1943G>T (n.*1943G>T) n.3329G>T c.1138G>T (p.Glu380Ter) c.3259G>T (p.Glu1087Ter) c.2530G>T (p.Glu844Ter) c.1690G>T (p.Glu564Ter) | |
| 16 | g.1520757C>G | CA394225013 | IFT140 | c.3505G>C (p.Glu1169Gln) c.1087G>C (p.Glu363Gln) c.*1943G>C (n.*1943G>C) n.3329G>C c.1138G>C (p.Glu380Gln) c.3259G>C (p.Glu1087Gln) c.2530G>C (p.Glu844Gln) c.1690G>C (p.Glu564Gln) | |
| 16 | g.1520757C>T | CA394225014 | IFT140 | c.3505G>A (p.Glu1169Lys) c.1087G>A (p.Glu363Lys) c.*1943G>A (n.*1943G>A) n.3329G>A c.1138G>A (p.Glu380Lys) c.3259G>A (p.Glu1087Lys) c.2530G>A (p.Glu844Lys) c.1690G>A (p.Glu564Lys) | gnomAD v4 |
| 16 | g.1520758C>A | CA394225015 | IFT140 | c.3504G>T (p.Glu1168Asp) c.1086G>T (p.Glu362Asp) c.*1942G>T (n.*1942G>T) n.3328G>T c.1137G>T (p.Glu379Asp) c.3258G>T (p.Glu1086Asp) c.2529G>T (p.Glu843Asp) c.1689G>T (p.Glu563Asp) | gnomAD v4 |
| 16 | g.1520758C= | CA2201723758 | IFT140 | c.3504G= (p.Glu1168=) c.1086G= (p.Glu362=) c.*1942G= (n.*1942G=) n.3328G= c.1137G= (p.Glu379=) c.3258G= (p.Glu1086=) c.2529G= (p.Glu843=) c.1689G= (p.Glu563=) | |
| 16 | g.1520758C>G | CA7813131 | IFT140 | c.3504G>C (p.Glu1168Asp) c.1086G>C (p.Glu362Asp) c.*1942G>C (n.*1942G>C) n.3328G>C c.1137G>C (p.Glu379Asp) c.3258G>C (p.Glu1086Asp) c.2529G>C (p.Glu843Asp) c.1689G>C (p.Glu563Asp) | dbSNP ExAC gnomAD v4 |
| 16 | g.1520758C>T | CA492931925 | IFT140 | c.3504G>A (p.Glu1168=) c.1086G>A (p.Glu362=) c.*1942G>A (n.*1942G>A) n.3328G>A c.1137G>A (p.Glu379=) c.3258G>A (p.Glu1086=) c.2529G>A (p.Glu843=) c.1689G>A (p.Glu563=) | |
| 16 | g.1520759T>A | CA394225017 | IFT140 | c.3503A>T (p.Glu1168Val) c.1085A>T (p.Glu362Val) c.*1941A>T (n.*1941A>T) n.3327A>T c.1136A>T (p.Glu379Val) c.3257A>T (p.Glu1086Val) c.2528A>T (p.Glu843Val) c.1688A>T (p.Glu563Val) | |
| 16 | g.1520759T>C | CA394225018 | IFT140 | c.3503A>G (p.Glu1168Gly) c.1085A>G (p.Glu362Gly) c.*1941A>G (n.*1941A>G) n.3327A>G c.1136A>G (p.Glu379Gly) c.3257A>G (p.Glu1086Gly) c.2528A>G (p.Glu843Gly) c.1688A>G (p.Glu563Gly) | |
| 16 | g.1520759T>G | CA394225016 | IFT140 | c.3503A>C (p.Glu1168Ala) c.1085A>C (p.Glu362Ala) c.*1941A>C (n.*1941A>C) n.3327A>C c.1136A>C (p.Glu379Ala) c.3257A>C (p.Glu1086Ala) c.2528A>C (p.Glu843Ala) c.1688A>C (p.Glu563Ala) | |
| 16 | g.1520760C>A | CA394225019 | IFT140 | c.3502G>T (p.Glu1168Ter) c.1084G>T (p.Glu362Ter) c.*1940G>T (n.*1940G>T) n.3326G>T c.1135G>T (p.Glu379Ter) c.3256G>T (p.Glu1086Ter) c.2527G>T (p.Glu843Ter) c.1687G>T (p.Glu563Ter) | ClinVar gnomAD v4 |
| 16 | g.1520760C= | CA2201723759 | IFT140 | c.3502G= (p.Glu1168=) c.1084G= (p.Glu362=) c.*1940G= (n.*1940G=) n.3326G= c.1135G= (p.Glu379=) c.3256G= (p.Glu1086=) c.2527G= (p.Glu843=) c.1687G= (p.Glu563=) | |
| 16 | g.1520760C>G | CA7813133 | IFT140 | c.3502G>C (p.Glu1168Gln) c.1084G>C (p.Glu362Gln) c.*1940G>C (n.*1940G>C) n.3326G>C c.1135G>C (p.Glu379Gln) c.3256G>C (p.Glu1086Gln) c.2527G>C (p.Glu843Gln) c.1687G>C (p.Glu563Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520760C>T | CA7813132 | IFT140 | c.3502G>A (p.Glu1168Lys) c.1084G>A (p.Glu362Lys) c.*1940G>A (n.*1940G>A) n.3326G>A c.1135G>A (p.Glu379Lys) c.3256G>A (p.Glu1086Lys) c.2527G>A (p.Glu843Lys) c.1687G>A (p.Glu563Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 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) |