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.1520173C>A | CA493031453 | IFT140 | c.3831G>T (p.Arg1277=) c.1413G>T (p.Arg471=) c.*2269G>T (n.*2269G>T) n.3655G>T c.1464G>T (p.Arg488=) c.3585G>T (p.Arg1195=) c.2856G>T (p.Arg952=) c.2016G>T (p.Arg672=) | |
| 16 | g.1520173C>G | CA493031451 | IFT140 | c.3831G>C (p.Arg1277=) c.1413G>C (p.Arg471=) c.*2269G>C (n.*2269G>C) n.3655G>C c.1464G>C (p.Arg488=) c.3585G>C (p.Arg1195=) c.2856G>C (p.Arg952=) c.2016G>C (p.Arg672=) | |
| 16 | g.1520173C>T | CA493031452 | IFT140 | c.3831G>A (p.Arg1277=) c.1413G>A (p.Arg471=) c.*2269G>A (n.*2269G>A) n.3655G>A c.1464G>A (p.Arg488=) c.3585G>A (p.Arg1195=) c.2856G>A (p.Arg952=) c.2016G>A (p.Arg672=) | |
| 16 | g.1520174C>A | CA394224307 | IFT140 | c.3830G>T (p.Arg1277Leu) c.1412G>T (p.Arg471Leu) c.*2268G>T (n.*2268G>T) n.3654G>T c.1463G>T (p.Arg488Leu) c.3584G>T (p.Arg1195Leu) c.2855G>T (p.Arg952Leu) c.2015G>T (p.Arg672Leu) | |
| 16 | g.1520174C= | CA2201723442 | IFT140 | c.3830G= (p.Arg1277=) c.1412G= (p.Arg471=) c.*2268G= (n.*2268G=) n.3654G= c.1463G= (p.Arg488=) c.3584G= (p.Arg1195=) c.2855G= (p.Arg952=) c.2015G= (p.Arg672=) | |
| 16 | g.1520174C>G | CA394224308 | IFT140 | c.3830G>C (p.Arg1277Pro) c.1412G>C (p.Arg471Pro) c.*2268G>C (n.*2268G>C) n.3654G>C c.1463G>C (p.Arg488Pro) c.3584G>C (p.Arg1195Pro) c.2855G>C (p.Arg952Pro) c.2015G>C (p.Arg672Pro) | gnomAD v4 |
| 16 | g.1520174C>T | CA7813026 | IFT140 | c.3830G>A (p.Arg1277Gln) c.1412G>A (p.Arg471Gln) c.*2268G>A (n.*2268G>A) n.3654G>A c.1463G>A (p.Arg488Gln) c.3584G>A (p.Arg1195Gln) c.2855G>A (p.Arg952Gln) c.2015G>A (p.Arg672Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1520175G>A | CA7813027 | IFT140 | c.3829C>T (p.Arg1277Trp) c.1411C>T (p.Arg471Trp) c.*2267C>T (n.*2267C>T) n.3653C>T c.1462C>T (p.Arg488Trp) c.3583C>T (p.Arg1195Trp) c.2854C>T (p.Arg952Trp) c.2014C>T (p.Arg672Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520175G>C | CA394224309 | IFT140 | c.3829C>G (p.Arg1277Gly) c.1411C>G (p.Arg471Gly) c.*2267C>G (n.*2267C>G) n.3653C>G c.1462C>G (p.Arg488Gly) c.3583C>G (p.Arg1195Gly) c.2854C>G (p.Arg952Gly) c.2014C>G (p.Arg672Gly) | |
| 16 | g.1520175G= | CA2201723443 | IFT140 | c.3829C= (p.Arg1277=) c.1411C= (p.Arg471=) c.*2267C= (n.*2267C=) n.3653C= c.1462C= (p.Arg488=) c.3583C= (p.Arg1195=) c.2854C= (p.Arg952=) c.2014C= (p.Arg672=) | |
| 16 | g.1520175G>T | CA493031460 | IFT140 | c.3829C>A (p.Arg1277=) c.1411C>A (p.Arg471=) c.*2267C>A (n.*2267C>A) n.3653C>A c.1462C>A (p.Arg488=) c.3583C>A (p.Arg1195=) c.2854C>A (p.Arg952=) c.2014C>A (p.Arg672=) | |
| 16 | g.1520176C>A | CA493031461 | IFT140 | c.3828G>T (p.Gly1276=) c.1410G>T (p.Gly470=) c.*2266G>T (n.*2266G>T) n.3652G>T c.1461G>T (p.Gly487=) c.3582G>T (p.Gly1194=) c.2853G>T (p.Gly951=) c.2013G>T (p.Gly671=) | |
| 16 | g.1520176C= | CA2201723444 | IFT140 | c.3828G= (p.Gly1276=) c.1410G= (p.Gly470=) c.*2266G= (n.*2266G=) n.3652G= c.1461G= (p.Gly487=) c.3582G= (p.Gly1194=) c.2853G= (p.Gly951=) c.2013G= (p.Gly671=) | |
| 16 | g.1520176C>G | CA7813028 | IFT140 | c.3828G>C (p.Gly1276=) c.1410G>C (p.Gly470=) c.*2266G>C (n.*2266G>C) n.3652G>C c.1461G>C (p.Gly487=) c.3582G>C (p.Gly1194=) c.2853G>C (p.Gly951=) c.2013G>C (p.Gly671=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520176C>T | CA7813029 | IFT140 | c.3828G>A (p.Gly1276=) c.1410G>A (p.Gly470=) c.*2266G>A (n.*2266G>A) n.3652G>A c.1461G>A (p.Gly487=) c.3582G>A (p.Gly1194=) c.2853G>A (p.Gly951=) c.2013G>A (p.Gly671=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520177C>A | CA394224310 | IFT140 | c.3827G>T (p.Gly1276Val) c.1409G>T (p.Gly470Val) c.*2265G>T (n.*2265G>T) n.3651G>T c.1460G>T (p.Gly487Val) c.3581G>T (p.Gly1194Val) c.2852G>T (p.Gly951Val) c.2012G>T (p.Gly671Val) | |
| 16 | g.1520177C= | CA2201723445 | IFT140 | c.3827G= (p.Gly1276=) c.1409G= (p.Gly470=) c.*2265G= (n.*2265G=) n.3651G= c.1460G= (p.Gly487=) c.3581G= (p.Gly1194=) c.2852G= (p.Gly951=) c.2012G= (p.Gly671=) | |
| 16 | g.1520177C>G | CA7813030 | IFT140 | c.3827G>C (p.Gly1276Ala) c.1409G>C (p.Gly470Ala) c.*2265G>C (n.*2265G>C) n.3651G>C c.1460G>C (p.Gly487Ala) c.3581G>C (p.Gly1194Ala) c.2852G>C (p.Gly951Ala) c.2012G>C (p.Gly671Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520177C>T | CA277670 | IFT140 | c.3827G>A (p.Gly1276Glu) c.1409G>A (p.Gly470Glu) c.*2265G>A (n.*2265G>A) n.3651G>A c.1460G>A (p.Gly487Glu) c.3581G>A (p.Gly1194Glu) c.2852G>A (p.Gly951Glu) c.2012G>A (p.Gly671Glu) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
| 16 | g.1520178C>A | CA394224311 | IFT140 | c.3826G>T (p.Gly1276Trp) c.1408G>T (p.Gly470Trp) c.*2264G>T (n.*2264G>T) n.3650G>T c.1459G>T (p.Gly487Trp) c.3580G>T (p.Gly1194Trp) c.2851G>T (p.Gly951Trp) c.2011G>T (p.Gly671Trp) | |
| 16 | g.1520178C= | CA2201723446 | IFT140 | c.3826G= (p.Gly1276=) c.1408G= (p.Gly470=) c.*2264G= (n.*2264G=) n.3650G= c.1459G= (p.Gly487=) c.3580G= (p.Gly1194=) c.2851G= (p.Gly951=) c.2011G= (p.Gly671=) | |
| 16 | g.1520178C>G | CA394224312 | IFT140 | c.3826G>C (p.Gly1276Arg) c.1408G>C (p.Gly470Arg) c.*2264G>C (n.*2264G>C) n.3650G>C c.1459G>C (p.Gly487Arg) c.3580G>C (p.Gly1194Arg) c.2851G>C (p.Gly951Arg) c.2011G>C (p.Gly671Arg) | gnomAD v4 |
| 16 | g.1520178C>T | CA276675508 | IFT140 | c.3826G>A (p.Gly1276Arg) c.1408G>A (p.Gly470Arg) c.*2264G>A (n.*2264G>A) n.3650G>A c.1459G>A (p.Gly487Arg) c.3580G>A (p.Gly1194Arg) c.2851G>A (p.Gly951Arg) c.2011G>A (p.Gly671Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520179C>A | CA394224313 | IFT140 | c.3825G>T (p.Lys1275Asn) c.1407G>T (p.Lys469Asn) c.*2263G>T (n.*2263G>T) n.3649G>T c.1458G>T (p.Lys486Asn) c.3579G>T (p.Lys1193Asn) c.2850G>T (p.Lys950Asn) c.2010G>T (p.Lys670Asn) | |
| 16 | g.1520179C= | CA2201723447 | IFT140 | c.3825G= (p.Lys1275=) c.1407G= (p.Lys469=) c.*2263G= (n.*2263G=) n.3649G= c.1458G= (p.Lys486=) c.3579G= (p.Lys1193=) c.2850G= (p.Lys950=) c.2010G= (p.Lys670=) | |
| 16 | g.1520179C>G | CA394224314 | IFT140 | c.3825G>C (p.Lys1275Asn) c.1407G>C (p.Lys469Asn) c.*2263G>C (n.*2263G>C) n.3649G>C c.1458G>C (p.Lys486Asn) c.3579G>C (p.Lys1193Asn) c.2850G>C (p.Lys950Asn) c.2010G>C (p.Lys670Asn) | |
| 16 | g.1520179C>T | CA493031468 | IFT140 | c.3825G>A (p.Lys1275=) c.1407G>A (p.Lys469=) c.*2263G>A (n.*2263G>A) n.3649G>A c.1458G>A (p.Lys486=) c.3579G>A (p.Lys1193=) c.2850G>A (p.Lys950=) c.2010G>A (p.Lys670=) | dbSNP gnomAD v4 |
| 16 | g.1520180T>A | CA394224316 | IFT140 | c.3824A>T (p.Lys1275Met) c.1406A>T (p.Lys469Met) c.*2262A>T (n.*2262A>T) n.3648A>T c.1457A>T (p.Lys486Met) c.3578A>T (p.Lys1193Met) c.2849A>T (p.Lys950Met) c.2009A>T (p.Lys670Met) | |
| 16 | g.1520180T>C | CA394224315 | IFT140 | c.3824A>G (p.Lys1275Arg) c.1406A>G (p.Lys469Arg) c.*2262A>G (n.*2262A>G) n.3648A>G c.1457A>G (p.Lys486Arg) c.3578A>G (p.Lys1193Arg) c.2849A>G (p.Lys950Arg) c.2009A>G (p.Lys670Arg) | |
| 16 | g.1520180T>G | CA7813031 | IFT140 | c.3824A>C (p.Lys1275Thr) c.1406A>C (p.Lys469Thr) c.*2262A>C (n.*2262A>C) n.3648A>C c.1457A>C (p.Lys486Thr) c.3578A>C (p.Lys1193Thr) c.2849A>C (p.Lys950Thr) c.2009A>C (p.Lys670Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520180T= | CA2201723448 | IFT140 | c.3824A= (p.Lys1275=) c.1406A= (p.Lys469=) c.*2262A= (n.*2262A=) n.3648A= c.1457A= (p.Lys486=) c.3578A= (p.Lys1193=) c.2849A= (p.Lys950=) c.2009A= (p.Lys670=) | |
| 16 | g.1520181del | CA2740089977 | IFT140 | c.3824del (p.Lys1275ArgfsTer?) c.1406del (p.Lys469ArgfsTer?) c.*2262del (n.*2262del) n.3648del c.1457del (p.Lys486ArgfsTer?) c.3578del (p.Lys1193ArgfsTer?) c.2849del (p.Lys950ArgfsTer?) c.2009del (p.Lys670ArgfsTer?) | |
| 16 | g.1520181T>A | CA394224317 | IFT140 | c.3823A>T (p.Lys1275Ter) c.1405A>T (p.Lys469Ter) c.*2261A>T (n.*2261A>T) n.3647A>T c.1456A>T (p.Lys486Ter) c.3577A>T (p.Lys1193Ter) c.2848A>T (p.Lys950Ter) c.2008A>T (p.Lys670Ter) | |
| 16 | g.1520181T>C | CA394224318 | IFT140 | c.3823A>G (p.Lys1275Glu) c.1405A>G (p.Lys469Glu) c.*2261A>G (n.*2261A>G) n.3647A>G c.1456A>G (p.Lys486Glu) c.3577A>G (p.Lys1193Glu) c.2848A>G (p.Lys950Glu) c.2008A>G (p.Lys670Glu) | gnomAD v4 |
| 16 | g.1520181T>G | CA394224319 | IFT140 | c.3823A>C (p.Lys1275Gln) c.1405A>C (p.Lys469Gln) c.*2261A>C (n.*2261A>C) n.3647A>C c.1456A>C (p.Lys486Gln) c.3577A>C (p.Lys1193Gln) c.2848A>C (p.Lys950Gln) c.2008A>C (p.Lys670Gln) | |
| 16 | g.1520182G>A | CA493031472 | IFT140 | c.3822C>T (p.Thr1274=) c.1404C>T (p.Thr468=) c.*2260C>T (n.*2260C>T) n.3646C>T c.1455C>T (p.Thr485=) c.3576C>T (p.Thr1192=) c.2847C>T (p.Thr949=) c.2007C>T (p.Thr669=) | gnomAD v4 |
| 16 | g.1520182G>C | CA493031474 | IFT140 | c.3822C>G (p.Thr1274=) c.1404C>G (p.Thr468=) c.*2260C>G (n.*2260C>G) n.3646C>G c.1455C>G (p.Thr485=) c.3576C>G (p.Thr1192=) c.2847C>G (p.Thr949=) c.2007C>G (p.Thr669=) | |
| 16 | g.1520182G>T | CA493031477 | IFT140 | c.3822C>A (p.Thr1274=) c.1404C>A (p.Thr468=) c.*2260C>A (n.*2260C>A) n.3646C>A c.1455C>A (p.Thr485=) c.3576C>A (p.Thr1192=) c.2847C>A (p.Thr949=) c.2007C>A (p.Thr669=) | |
| 16 | g.1520183G>A | CA394224320 | IFT140 | c.3821C>T (p.Thr1274Ile) c.1403C>T (p.Thr468Ile) c.*2259C>T (n.*2259C>T) n.3645C>T c.1454C>T (p.Thr485Ile) c.3575C>T (p.Thr1192Ile) c.2846C>T (p.Thr949Ile) c.2006C>T (p.Thr669Ile) | |
| 16 | g.1520183G>C | CA394224321 | IFT140 | c.3821C>G (p.Thr1274Ser) c.1403C>G (p.Thr468Ser) c.*2259C>G (n.*2259C>G) n.3645C>G c.1454C>G (p.Thr485Ser) c.3575C>G (p.Thr1192Ser) c.2846C>G (p.Thr949Ser) c.2006C>G (p.Thr669Ser) | gnomAD v4 |
| 16 | g.1520183G>T | CA394224322 | IFT140 | c.3821C>A (p.Thr1274Asn) c.1403C>A (p.Thr468Asn) c.*2259C>A (n.*2259C>A) n.3645C>A c.1454C>A (p.Thr485Asn) c.3575C>A (p.Thr1192Asn) c.2846C>A (p.Thr949Asn) c.2006C>A (p.Thr669Asn) | gnomAD v4 |
| 16 | g.1520184T>A | CA394224325 | IFT140 | c.3820A>T (p.Thr1274Ser) c.1402A>T (p.Thr468Ser) c.*2258A>T (n.*2258A>T) n.3644A>T c.1453A>T (p.Thr485Ser) c.3574A>T (p.Thr1192Ser) c.2845A>T (p.Thr949Ser) c.2005A>T (p.Thr669Ser) | |
| 16 | g.1520184T>C | CA394224324 | IFT140 | c.3820A>G (p.Thr1274Ala) c.1402A>G (p.Thr468Ala) c.*2258A>G (n.*2258A>G) n.3644A>G c.1453A>G (p.Thr485Ala) c.3574A>G (p.Thr1192Ala) c.2845A>G (p.Thr949Ala) c.2005A>G (p.Thr669Ala) | gnomAD v4 |
| 16 | g.1520184T>G | CA394224323 | IFT140 | c.3820A>C (p.Thr1274Pro) c.1402A>C (p.Thr468Pro) c.*2258A>C (n.*2258A>C) n.3644A>C c.1453A>C (p.Thr485Pro) c.3574A>C (p.Thr1192Pro) c.2845A>C (p.Thr949Pro) c.2005A>C (p.Thr669Pro) | dbSNP |
| 16 | g.1520184T= | CA2201723449 | IFT140 | c.3820A= (p.Thr1274=) c.1402A= (p.Thr468=) c.*2258A= (n.*2258A=) n.3644A= c.1453A= (p.Thr485=) c.3574A= (p.Thr1192=) c.2845A= (p.Thr949=) c.2005A= (p.Thr669=) | |
| 16 | g.1520185G>A | CA7813032 | IFT140 | c.3819C>T (p.Tyr1273=) c.1401C>T (p.Tyr467=) c.*2257C>T (n.*2257C>T) n.3643C>T c.1452C>T (p.Tyr484=) c.3573C>T (p.Tyr1191=) c.2844C>T (p.Tyr948=) c.2004C>T (p.Tyr668=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520185G>C | CA394224326 | IFT140 | c.3819C>G (p.Tyr1273Ter) c.1401C>G (p.Tyr467Ter) c.*2257C>G (n.*2257C>G) n.3643C>G c.1452C>G (p.Tyr484Ter) c.3573C>G (p.Tyr1191Ter) c.2844C>G (p.Tyr948Ter) c.2004C>G (p.Tyr668Ter) | |
| 16 | g.1520185G= | CA2201723450 | IFT140 | c.3819C= (p.Tyr1273=) c.1401C= (p.Tyr467=) c.*2257C= (n.*2257C=) n.3643C= c.1452C= (p.Tyr484=) c.3573C= (p.Tyr1191=) c.2844C= (p.Tyr948=) c.2004C= (p.Tyr668=) |