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.1519930G>A | CA202182 | IFT140 | c.3991C>T (p.Gln1331Ter) c.1573C>T (p.Gln525Ter) c.*2429C>T (n.*2429C>T) n.3815C>T c.109C>T (p.Gln37Ter) c.1624C>T (p.Gln542Ter) c.3745C>T (p.Gln1249Ter) c.3016C>T (p.Gln1006Ter) c.2176C>T (p.Gln726Ter) | ClinVar dbSNP |
| 16 | g.1519930G>C | CA394223961 | IFT140 | c.3991C>G (p.Gln1331Glu) c.1573C>G (p.Gln525Glu) c.*2429C>G (n.*2429C>G) n.3815C>G c.109C>G (p.Gln37Glu) c.1624C>G (p.Gln542Glu) c.3745C>G (p.Gln1249Glu) c.3016C>G (p.Gln1006Glu) c.2176C>G (p.Gln726Glu) | |
| 16 | g.1519930G= | CA2201723304 | IFT140 | c.3991C= (p.Gln1331=) c.1573C= (p.Gln525=) c.*2429C= (n.*2429C=) n.3815C= c.109C= (p.Gln37=) c.1624C= (p.Gln542=) c.3745C= (p.Gln1249=) c.3016C= (p.Gln1006=) c.2176C= (p.Gln726=) | |
| 16 | g.1519930G>T | CA394223962 | IFT140 | c.3991C>A (p.Gln1331Lys) c.1573C>A (p.Gln525Lys) c.*2429C>A (n.*2429C>A) n.3815C>A c.109C>A (p.Gln37Lys) c.1624C>A (p.Gln542Lys) c.3745C>A (p.Gln1249Lys) c.3016C>A (p.Gln1006Lys) c.2176C>A (p.Gln726Lys) | |
| 16 | g.1519931C>A | CA493031297 | IFT140 | c.3990G>T (p.Ala1330=) c.1572G>T (p.Ala524=) c.*2428G>T (n.*2428G>T) n.3814G>T c.108G>T (p.Ala36=) c.1623G>T (p.Ala541=) c.3744G>T (p.Ala1248=) c.3015G>T (p.Ala1005=) c.2175G>T (p.Ala725=) | |
| 16 | g.1519931C= | CA2201723305 | IFT140 | c.3990G= (p.Ala1330=) c.1572G= (p.Ala524=) c.*2428G= (n.*2428G=) n.3814G= c.108G= (p.Ala36=) c.1623G= (p.Ala541=) c.3744G= (p.Ala1248=) c.3015G= (p.Ala1005=) c.2175G= (p.Ala725=) | |
| 16 | g.1519931C>G | CA493031298 | IFT140 | c.3990G>C (p.Ala1330=) c.1572G>C (p.Ala524=) c.*2428G>C (n.*2428G>C) n.3814G>C c.108G>C (p.Ala36=) c.1623G>C (p.Ala541=) c.3744G>C (p.Ala1248=) c.3015G>C (p.Ala1005=) c.2175G>C (p.Ala725=) | |
| 16 | g.1519931C>T | CA7812959 | IFT140 | c.3990G>A (p.Ala1330=) c.1572G>A (p.Ala524=) c.*2428G>A (n.*2428G>A) n.3814G>A c.108G>A (p.Ala36=) c.1623G>A (p.Ala541=) c.3744G>A (p.Ala1248=) c.3015G>A (p.Ala1005=) c.2175G>A (p.Ala725=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1519932G>A | CA7812960 | IFT140 | c.3989C>T (p.Ala1330Val) c.1571C>T (p.Ala524Val) c.*2427C>T (n.*2427C>T) n.3813C>T c.107C>T (p.Ala36Val) c.1622C>T (p.Ala541Val) c.3743C>T (p.Ala1248Val) c.3014C>T (p.Ala1005Val) c.2174C>T (p.Ala725Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1519932G>C | CA394223963 | IFT140 | c.3989C>G (p.Ala1330Gly) c.1571C>G (p.Ala524Gly) c.*2427C>G (n.*2427C>G) n.3813C>G c.107C>G (p.Ala36Gly) c.1622C>G (p.Ala541Gly) c.3743C>G (p.Ala1248Gly) c.3014C>G (p.Ala1005Gly) c.2174C>G (p.Ala725Gly) | |
| 16 | g.1519932G= | CA2201723306 | IFT140 | c.3989C= (p.Ala1330=) c.1571C= (p.Ala524=) c.*2427C= (n.*2427C=) n.3813C= c.107C= (p.Ala36=) c.1622C= (p.Ala541=) c.3743C= (p.Ala1248=) c.3014C= (p.Ala1005=) c.2174C= (p.Ala725=) | |
| 16 | g.1519932G>T | CA394223964 | IFT140 | c.3989C>A (p.Ala1330Glu) c.1571C>A (p.Ala524Glu) c.*2427C>A (n.*2427C>A) n.3813C>A c.107C>A (p.Ala36Glu) c.1622C>A (p.Ala541Glu) c.3743C>A (p.Ala1248Glu) c.3014C>A (p.Ala1005Glu) c.2174C>A (p.Ala725Glu) | |
| 16 | g.1519933C>A | CA394223965 | IFT140 | c.3988G>T (p.Ala1330Ser) c.1570G>T (p.Ala524Ser) c.*2426G>T (n.*2426G>T) n.3812G>T c.106G>T (p.Ala36Ser) c.1621G>T (p.Ala541Ser) c.3742G>T (p.Ala1248Ser) c.3013G>T (p.Ala1005Ser) c.2173G>T (p.Ala725Ser) | |
| 16 | g.1519933C= | CA2201723307 | IFT140 | c.3988G= (p.Ala1330=) c.1570G= (p.Ala524=) c.*2426G= (n.*2426G=) n.3812G= c.106G= (p.Ala36=) c.1621G= (p.Ala541=) c.3742G= (p.Ala1248=) c.3013G= (p.Ala1005=) c.2173G= (p.Ala725=) | |
| 16 | g.1519933C>G | CA394223966 | IFT140 | c.3988G>C (p.Ala1330Pro) c.1570G>C (p.Ala524Pro) c.*2426G>C (n.*2426G>C) n.3812G>C c.106G>C (p.Ala36Pro) c.1621G>C (p.Ala541Pro) c.3742G>C (p.Ala1248Pro) c.3013G>C (p.Ala1005Pro) c.2173G>C (p.Ala725Pro) | |
| 16 | g.1519933C>T | CA243044 | IFT140 | c.3988G>A (p.Ala1330Thr) c.1570G>A (p.Ala524Thr) c.*2426G>A (n.*2426G>A) n.3812G>A c.106G>A (p.Ala36Thr) c.1621G>A (p.Ala541Thr) c.3742G>A (p.Ala1248Thr) c.3013G>A (p.Ala1005Thr) c.2173G>A (p.Ala725Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1519934C>A | CA493031299 | IFT140 | c.3987G>T (p.Leu1329=) c.1569G>T (p.Leu523=) c.*2425G>T (n.*2425G>T) n.3811G>T c.105G>T (p.Leu35=) c.1620G>T (p.Leu540=) c.3741G>T (p.Leu1247=) c.3012G>T (p.Leu1004=) c.2172G>T (p.Leu724=) | dbSNP |
| 16 | g.1519934C= | CA2201723308 | IFT140 | c.3987G= (p.Leu1329=) c.1569G= (p.Leu523=) c.*2425G= (n.*2425G=) n.3811G= c.105G= (p.Leu35=) c.1620G= (p.Leu540=) c.3741G= (p.Leu1247=) c.3012G= (p.Leu1004=) c.2172G= (p.Leu724=) | |
| 16 | g.1519934C>G | CA493031300 | IFT140 | c.3987G>C (p.Leu1329=) c.1569G>C (p.Leu523=) c.*2425G>C (n.*2425G>C) n.3811G>C c.105G>C (p.Leu35=) c.1620G>C (p.Leu540=) c.3741G>C (p.Leu1247=) c.3012G>C (p.Leu1004=) c.2172G>C (p.Leu724=) | |
| 16 | g.1519934C>T | CA493031301 | IFT140 | c.3987G>A (p.Leu1329=) c.1569G>A (p.Leu523=) c.*2425G>A (n.*2425G>A) n.3811G>A c.105G>A (p.Leu35=) c.1620G>A (p.Leu540=) c.3741G>A (p.Leu1247=) c.3012G>A (p.Leu1004=) c.2172G>A (p.Leu724=) | |
| 16 | g.1519935A= | CA2201723309 | IFT140 | c.3986T= (p.Leu1329=) c.1568T= (p.Leu523=) c.*2424T= (n.*2424T=) n.3810T= c.104T= (p.Leu35=) c.1619T= (p.Leu540=) c.3740T= (p.Leu1247=) c.3011T= (p.Leu1004=) c.2171T= (p.Leu724=) | |
| 16 | g.1519935A>C | CA394223967 | IFT140 | c.3986T>G (p.Leu1329Arg) c.1568T>G (p.Leu523Arg) c.*2424T>G (n.*2424T>G) n.3810T>G c.104T>G (p.Leu35Arg) c.1619T>G (p.Leu540Arg) c.3740T>G (p.Leu1247Arg) c.3011T>G (p.Leu1004Arg) c.2171T>G (p.Leu724Arg) | |
| 16 | g.1519935A>G | CA7812961 | IFT140 | c.3986T>C (p.Leu1329Pro) c.1568T>C (p.Leu523Pro) c.*2424T>C (n.*2424T>C) n.3810T>C c.104T>C (p.Leu35Pro) c.1619T>C (p.Leu540Pro) c.3740T>C (p.Leu1247Pro) c.3011T>C (p.Leu1004Pro) c.2171T>C (p.Leu724Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1519935A>T | CA394223968 | IFT140 | c.3986T>A (p.Leu1329Gln) c.1568T>A (p.Leu523Gln) c.*2424T>A (n.*2424T>A) n.3810T>A c.104T>A (p.Leu35Gln) c.1619T>A (p.Leu540Gln) c.3740T>A (p.Leu1247Gln) c.3011T>A (p.Leu1004Gln) c.2171T>A (p.Leu724Gln) | |
| 16 | g.1519936G>A | CA493031302 | IFT140 | c.3985C>T (p.Leu1329=) c.1567C>T (p.Leu523=) c.*2423C>T (n.*2423C>T) n.3809C>T c.103C>T (p.Leu35=) c.1618C>T (p.Leu540=) c.3739C>T (p.Leu1247=) c.3010C>T (p.Leu1004=) c.2170C>T (p.Leu724=) | gnomAD v4 |
| 16 | g.1519936G>C | CA394223970 | IFT140 | c.3985C>G (p.Leu1329Val) c.1567C>G (p.Leu523Val) c.*2423C>G (n.*2423C>G) n.3809C>G c.103C>G (p.Leu35Val) c.1618C>G (p.Leu540Val) c.3739C>G (p.Leu1247Val) c.3010C>G (p.Leu1004Val) c.2170C>G (p.Leu724Val) | |
| 16 | g.1519936G>T | CA394223969 | IFT140 | c.3985C>A (p.Leu1329Met) c.1567C>A (p.Leu523Met) c.*2423C>A (n.*2423C>A) n.3809C>A c.103C>A (p.Leu35Met) c.1618C>A (p.Leu540Met) c.3739C>A (p.Leu1247Met) c.3010C>A (p.Leu1004Met) c.2170C>A (p.Leu724Met) | |
| 16 | g.1519937C>A | CA394223971 | IFT140 | c.3984G>T (p.Arg1328Ser) c.1566G>T (p.Arg522Ser) c.*2422G>T (n.*2422G>T) n.3808G>T c.102G>T (p.Arg34Ser) c.1617G>T (p.Arg539Ser) c.3738G>T (p.Arg1246Ser) c.3009G>T (p.Arg1003Ser) c.2169G>T (p.Arg723Ser) | gnomAD v4 |
| 16 | g.1519937C= | CA2201723310 | IFT140 | c.3984G= (p.Arg1328=) c.1566G= (p.Arg522=) c.*2422G= (n.*2422G=) n.3808G= c.102G= (p.Arg34=) c.1617G= (p.Arg539=) c.3738G= (p.Arg1246=) c.3009G= (p.Arg1003=) c.2169G= (p.Arg723=) | |
| 16 | g.1519937C>G | CA394223972 | IFT140 | c.3984G>C (p.Arg1328Ser) c.1566G>C (p.Arg522Ser) c.*2422G>C (n.*2422G>C) n.3808G>C c.102G>C (p.Arg34Ser) c.1617G>C (p.Arg539Ser) c.3738G>C (p.Arg1246Ser) c.3009G>C (p.Arg1003Ser) c.2169G>C (p.Arg723Ser) | gnomAD v4 |
| 16 | g.1519937C>T | CA493031303 | IFT140 | c.3984G>A (p.Arg1328=) c.1566G>A (p.Arg522=) c.*2422G>A (n.*2422G>A) n.3808G>A c.102G>A (p.Arg34=) c.1617G>A (p.Arg539=) c.3738G>A (p.Arg1246=) c.3009G>A (p.Arg1003=) c.2169G>A (p.Arg723=) | dbSNP gnomAD v4 |
| 16 | g.1519938C>A | CA394223973 | IFT140 | c.3983G>T (p.Arg1328Met) c.1565G>T (p.Arg522Met) c.*2421G>T (n.*2421G>T) n.3807G>T c.101G>T (p.Arg34Met) c.1616G>T (p.Arg539Met) c.3737G>T (p.Arg1246Met) c.3008G>T (p.Arg1003Met) c.2168G>T (p.Arg723Met) | |
| 16 | g.1519938C>G | CA394223974 | IFT140 | c.3983G>C (p.Arg1328Thr) c.1565G>C (p.Arg522Thr) c.*2421G>C (n.*2421G>C) n.3807G>C c.101G>C (p.Arg34Thr) c.1616G>C (p.Arg539Thr) c.3737G>C (p.Arg1246Thr) c.3008G>C (p.Arg1003Thr) c.2168G>C (p.Arg723Thr) | |
| 16 | g.1519938C>T | CA394223975 | IFT140 | c.3983G>A (p.Arg1328Lys) c.1565G>A (p.Arg522Lys) c.*2421G>A (n.*2421G>A) n.3807G>A c.101G>A (p.Arg34Lys) c.1616G>A (p.Arg539Lys) c.3737G>A (p.Arg1246Lys) c.3008G>A (p.Arg1003Lys) c.2168G>A (p.Arg723Lys) | |
| 16 | g.1519939T>A | CA394223976 | IFT140 | c.3982A>T (p.Arg1328Trp) c.1564A>T (p.Arg522Trp) c.*2420A>T (n.*2420A>T) n.3806A>T c.100A>T (p.Arg34Trp) c.1615A>T (p.Arg539Trp) c.3736A>T (p.Arg1246Trp) c.3007A>T (p.Arg1003Trp) c.2167A>T (p.Arg723Trp) | |
| 16 | g.1519939T>C | CA394223977 | IFT140 | c.3982A>G (p.Arg1328Gly) c.1564A>G (p.Arg522Gly) c.*2420A>G (n.*2420A>G) n.3806A>G c.100A>G (p.Arg34Gly) c.1615A>G (p.Arg539Gly) c.3736A>G (p.Arg1246Gly) c.3007A>G (p.Arg1003Gly) c.2167A>G (p.Arg723Gly) | |
| 16 | g.1519939T>G | CA493031304 | IFT140 | c.3982A>C (p.Arg1328=) c.1564A>C (p.Arg522=) c.*2420A>C (n.*2420A>C) n.3806A>C c.100A>C (p.Arg34=) c.1615A>C (p.Arg539=) c.3736A>C (p.Arg1246=) c.3007A>C (p.Arg1003=) c.2167A>C (p.Arg723=) | |
| 16 | g.1519939_1519940delinsTG | CA2201723311 | IFT140 | c.3981_3982delinsCA (p.Thr1327=) c.1563_1564delinsCA (p.Thr521=) c.*2419_*2420delinsCA (n.*2419_*2420delinsCA) n.3805_3806delinsCA c.99_100delinsCA (p.Thr33=) c.1614_1615delinsCA (p.Thr538=) c.3735_3736delinsCA (p.Thr1245=) c.3006_3007delinsCA (p.Thr1002=) c.2166_2167delinsCA (p.Thr722=) | |
| 16 | g.1519940G>A | CA493031305 | IFT140 | c.3981C>T (p.Thr1327=) c.1563C>T (p.Thr521=) c.*2419C>T (n.*2419C>T) n.3805C>T c.99C>T (p.Thr33=) c.1614C>T (p.Thr538=) c.3735C>T (p.Thr1245=) c.3006C>T (p.Thr1002=) c.2166C>T (p.Thr722=) | |
| 16 | g.1519940G>C | CA493031307 | IFT140 | c.3981C>G (p.Thr1327=) c.1563C>G (p.Thr521=) c.*2419C>G (n.*2419C>G) n.3805C>G c.99C>G (p.Thr33=) c.1614C>G (p.Thr538=) c.3735C>G (p.Thr1245=) c.3006C>G (p.Thr1002=) c.2166C>G (p.Thr722=) | |
| 16 | g.1519940G>T | CA493031306 | IFT140 | c.3981C>A (p.Thr1327=) c.1563C>A (p.Thr521=) c.*2419C>A (n.*2419C>A) n.3805C>A c.99C>A (p.Thr33=) c.1614C>A (p.Thr538=) c.3735C>A (p.Thr1245=) c.3006C>A (p.Thr1002=) c.2166C>A (p.Thr722=) | |
| 16 | g.1519941del | CA620700910 | IFT140 | c.3981del (p.Arg1328GlyfsTer12) c.1563del (p.Arg522GlyfsTer12) c.*2419del (n.*2419del) n.3805del c.99del (p.Arg34GlyfsTer12) c.1614del (p.Arg539GlyfsTer12) c.3735del (p.Arg1246GlyfsTer12) c.3006del (p.Arg1003GlyfsTer12) c.2166del (p.Arg723GlyfsTer12) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1519941G>A | CA394223978 | IFT140 | c.3980C>T (p.Thr1327Ile) c.1562C>T (p.Thr521Ile) c.*2418C>T (n.*2418C>T) n.3804C>T c.98C>T (p.Thr33Ile) c.1613C>T (p.Thr538Ile) c.3734C>T (p.Thr1245Ile) c.3005C>T (p.Thr1002Ile) c.2165C>T (p.Thr722Ile) | COSMIC |
| 16 | g.1519941G>C | CA394223979 | IFT140 | c.3980C>G (p.Thr1327Ser) c.1562C>G (p.Thr521Ser) c.*2418C>G (n.*2418C>G) n.3804C>G c.98C>G (p.Thr33Ser) c.1613C>G (p.Thr538Ser) c.3734C>G (p.Thr1245Ser) c.3005C>G (p.Thr1002Ser) c.2165C>G (p.Thr722Ser) | |
| 16 | g.1519941G= | CA2201723312 | IFT140 | c.3980C= (p.Thr1327=) c.1562C= (p.Thr521=) c.*2418C= (n.*2418C=) n.3804C= c.98C= (p.Thr33=) c.1613C= (p.Thr538=) c.3734C= (p.Thr1245=) c.3005C= (p.Thr1002=) c.2165C= (p.Thr722=) | |
| 16 | g.1519941G>T | CA394223980 | IFT140 | c.3980C>A (p.Thr1327Asn) c.1562C>A (p.Thr521Asn) c.*2418C>A (n.*2418C>A) n.3804C>A c.98C>A (p.Thr33Asn) c.1613C>A (p.Thr538Asn) c.3734C>A (p.Thr1245Asn) c.3005C>A (p.Thr1002Asn) c.2165C>A (p.Thr722Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1519942T>A | CA394223981 | IFT140 | c.3979A>T (p.Thr1327Ser) c.1561A>T (p.Thr521Ser) c.*2417A>T (n.*2417A>T) n.3803A>T c.97A>T (p.Thr33Ser) c.1612A>T (p.Thr538Ser) c.3733A>T (p.Thr1245Ser) c.3004A>T (p.Thr1002Ser) c.2164A>T (p.Thr722Ser) | |
| 16 | g.1519942T>C | CA394223982 | IFT140 | c.3979A>G (p.Thr1327Ala) c.1561A>G (p.Thr521Ala) c.*2417A>G (n.*2417A>G) n.3803A>G c.97A>G (p.Thr33Ala) c.1612A>G (p.Thr538Ala) c.3733A>G (p.Thr1245Ala) c.3004A>G (p.Thr1002Ala) c.2164A>G (p.Thr722Ala) |