WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2090335_2090338delinsACTC | CA2202041400 | PKD1 | c.12391_12394delinsGAGT (p.Glu4131=) c.12388_12391delinsGAGT (p.Glu4130=) n.419_422delinsGAGT c.9346_9349delinsGAGT (p.Glu3116=) c.12469_12472delinsGAGT (p.Glu4157=) c.12466_12469delinsGAGT (p.Glu4156=) c.12451_12454delinsGAGT (p.Glu4151=) c.12445_12448delinsGAGT (p.Glu4149=) c.12442_12445delinsGAGT (p.Glu4148=) c.12415_12418delinsGAGT (p.Glu4139=) c.12397_12400delinsGAGT (p.Glu4133=) c.12343_12346delinsGAGT (p.Glu4115=) c.12262_12265delinsGAGT (p.Glu4088=) c.12205_12208delinsGAGT (p.Glu4069=) c.10291_10294delinsGAGT (p.Glu3431=) c.9469_9472delinsGAGT (p.Glu3157=) n.12309_12312delinsGAGT c.12511_12514delinsGAGT (p.Glu4171=) c.12439_12442delinsGAGT (p.Glu4147=) c.12301_12304delinsGAGT (p.Glu4101=) c.10387_10390delinsGAGT (p.Glu3463=) | |
| 16 | g.2090337_2090339del | CA645373028 | PKD1 | c.12391_12393del (p.Glu4131del) c.12388_12390del (p.Glu4130del) n.419_421del c.9346_9348del (p.Glu3116del) c.12469_12471del (p.Glu4157del) c.12466_12468del (p.Glu4156del) c.12451_12453del (p.Glu4151del) c.12445_12447del (p.Glu4149del) c.12442_12444del (p.Glu4148del) c.12415_12417del (p.Glu4139del) c.12397_12399del (p.Glu4133del) c.12343_12345del (p.Glu4115del) c.12262_12264del (p.Glu4088del) c.12205_12207del (p.Glu4069del) c.10291_10293del (p.Glu3431del) c.9469_9471del (p.Glu3157del) n.12309_12311del c.12511_12513del (p.Glu4171del) c.12439_12441del (p.Glu4147del) c.12301_12303del (p.Glu4101del) c.10387_10389del (p.Glu3463del) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2090337T>A | CA7828661 | PKD1 | c.12392A>T (p.Glu4131Val) c.12389A>T (p.Glu4130Val) n.420A>T c.9347A>T (p.Glu3116Val) c.12470A>T (p.Glu4157Val) c.12467A>T (p.Glu4156Val) c.12452A>T (p.Glu4151Val) c.12446A>T (p.Glu4149Val) c.12443A>T (p.Glu4148Val) c.12416A>T (p.Glu4139Val) c.12398A>T (p.Glu4133Val) c.12344A>T (p.Glu4115Val) c.12263A>T (p.Glu4088Val) c.12206A>T (p.Glu4069Val) c.10292A>T (p.Glu3431Val) c.9470A>T (p.Glu3157Val) n.12310A>T c.12512A>T (p.Glu4171Val) c.12440A>T (p.Glu4147Val) c.12302A>T (p.Glu4101Val) c.10388A>T (p.Glu3463Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2090337T>C | CA394324830 | PKD1 | c.12392A>G (p.Glu4131Gly) c.12389A>G (p.Glu4130Gly) n.420A>G c.9347A>G (p.Glu3116Gly) c.12470A>G (p.Glu4157Gly) c.12467A>G (p.Glu4156Gly) c.12452A>G (p.Glu4151Gly) c.12446A>G (p.Glu4149Gly) c.12443A>G (p.Glu4148Gly) c.12416A>G (p.Glu4139Gly) c.12398A>G (p.Glu4133Gly) c.12344A>G (p.Glu4115Gly) c.12263A>G (p.Glu4088Gly) c.12206A>G (p.Glu4069Gly) c.10292A>G (p.Glu3431Gly) c.9470A>G (p.Glu3157Gly) n.12310A>G c.12512A>G (p.Glu4171Gly) c.12440A>G (p.Glu4147Gly) c.12302A>G (p.Glu4101Gly) c.10388A>G (p.Glu3463Gly) | gnomAD v4 |
| 16 | g.2090337T>G | CA394324833 | PKD1 | c.12392A>C (p.Glu4131Ala) c.12389A>C (p.Glu4130Ala) n.420A>C c.9347A>C (p.Glu3116Ala) c.12470A>C (p.Glu4157Ala) c.12467A>C (p.Glu4156Ala) c.12452A>C (p.Glu4151Ala) c.12446A>C (p.Glu4149Ala) c.12443A>C (p.Glu4148Ala) c.12416A>C (p.Glu4139Ala) c.12398A>C (p.Glu4133Ala) c.12344A>C (p.Glu4115Ala) c.12263A>C (p.Glu4088Ala) c.12206A>C (p.Glu4069Ala) c.10292A>C (p.Glu3431Ala) c.9470A>C (p.Glu3157Ala) n.12310A>C c.12512A>C (p.Glu4171Ala) c.12440A>C (p.Glu4147Ala) c.12302A>C (p.Glu4101Ala) c.10388A>C (p.Glu3463Ala) | |
| 16 | g.2090337T= | CA2202041409 | PKD1 | c.12392A= (p.Glu4131=) c.12389A= (p.Glu4130=) n.420A= c.9347A= (p.Glu3116=) c.12470A= (p.Glu4157=) c.12467A= (p.Glu4156=) c.12452A= (p.Glu4151=) c.12446A= (p.Glu4149=) c.12443A= (p.Glu4148=) c.12416A= (p.Glu4139=) c.12398A= (p.Glu4133=) c.12344A= (p.Glu4115=) c.12263A= (p.Glu4088=) c.12206A= (p.Glu4069=) c.10292A= (p.Glu3431=) c.9470A= (p.Glu3157=) n.12310A= c.12512A= (p.Glu4171=) c.12440A= (p.Glu4147=) c.12302A= (p.Glu4101=) c.10388A= (p.Glu3463=) | |
| 16 | g.2090337_2090338delinsAA | CA2695221499 | PKD1 | c.12391_12392delinsTT (p.Glu4131Leu) c.12388_12389delinsTT (p.Glu4130Leu) n.419_420delinsTT c.9346_9347delinsTT (p.Glu3116Leu) c.12469_12470delinsTT (p.Glu4157Leu) c.12466_12467delinsTT (p.Glu4156Leu) c.12451_12452delinsTT (p.Glu4151Leu) c.12445_12446delinsTT (p.Glu4149Leu) c.12442_12443delinsTT (p.Glu4148Leu) c.12415_12416delinsTT (p.Glu4139Leu) c.12397_12398delinsTT (p.Glu4133Leu) c.12343_12344delinsTT (p.Glu4115Leu) c.12262_12263delinsTT (p.Glu4088Leu) c.12205_12206delinsTT (p.Glu4069Leu) c.10291_10292delinsTT (p.Glu3431Leu) c.9469_9470delinsTT (p.Glu3157Leu) n.12309_12310delinsTT c.12511_12512delinsTT (p.Glu4171Leu) c.12439_12440delinsTT (p.Glu4147Leu) c.12301_12302delinsTT (p.Glu4101Leu) c.10387_10388delinsTT (p.Glu3463Leu) | |
| 16 | g.2090338C>A | CA7828662 | PKD1 | c.12391G>T (p.Glu4131Ter) c.12388G>T (p.Glu4130Ter) n.419G>T c.9346G>T (p.Glu3116Ter) c.12469G>T (p.Glu4157Ter) c.12466G>T (p.Glu4156Ter) c.12451G>T (p.Glu4151Ter) c.12445G>T (p.Glu4149Ter) c.12442G>T (p.Glu4148Ter) c.12415G>T (p.Glu4139Ter) c.12397G>T (p.Glu4133Ter) c.12343G>T (p.Glu4115Ter) c.12262G>T (p.Glu4088Ter) c.12205G>T (p.Glu4069Ter) c.10291G>T (p.Glu3431Ter) c.9469G>T (p.Glu3157Ter) n.12309G>T c.12511G>T (p.Glu4171Ter) c.12439G>T (p.Glu4147Ter) c.12301G>T (p.Glu4101Ter) c.10387G>T (p.Glu3463Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2090338C= | CA2202041422 | PKD1 | c.12391G= (p.Glu4131=) c.12388G= (p.Glu4130=) n.419G= c.9346G= (p.Glu3116=) c.12469G= (p.Glu4157=) c.12466G= (p.Glu4156=) c.12451G= (p.Glu4151=) c.12445G= (p.Glu4149=) c.12442G= (p.Glu4148=) c.12415G= (p.Glu4139=) c.12397G= (p.Glu4133=) c.12343G= (p.Glu4115=) c.12262G= (p.Glu4088=) c.12205G= (p.Glu4069=) c.10291G= (p.Glu3431=) c.9469G= (p.Glu3157=) n.12309G= c.12511G= (p.Glu4171=) c.12439G= (p.Glu4147=) c.12301G= (p.Glu4101=) c.10387G= (p.Glu3463=) | |
| 16 | g.2090338C>G | CA394324838 | PKD1 | c.12391G>C (p.Glu4131Gln) c.12388G>C (p.Glu4130Gln) n.419G>C c.9346G>C (p.Glu3116Gln) c.12469G>C (p.Glu4157Gln) c.12466G>C (p.Glu4156Gln) c.12451G>C (p.Glu4151Gln) c.12445G>C (p.Glu4149Gln) c.12442G>C (p.Glu4148Gln) c.12415G>C (p.Glu4139Gln) c.12397G>C (p.Glu4133Gln) c.12343G>C (p.Glu4115Gln) c.12262G>C (p.Glu4088Gln) c.12205G>C (p.Glu4069Gln) c.10291G>C (p.Glu3431Gln) c.9469G>C (p.Glu3157Gln) n.12309G>C c.12511G>C (p.Glu4171Gln) c.12439G>C (p.Glu4147Gln) c.12301G>C (p.Glu4101Gln) c.10387G>C (p.Glu3463Gln) | |
| 16 | g.2090338C>T | CA394324841 | PKD1 | c.12391G>A (p.Glu4131Lys) c.12388G>A (p.Glu4130Lys) n.419G>A c.9346G>A (p.Glu3116Lys) c.12469G>A (p.Glu4157Lys) c.12466G>A (p.Glu4156Lys) c.12451G>A (p.Glu4151Lys) c.12445G>A (p.Glu4149Lys) c.12442G>A (p.Glu4148Lys) c.12415G>A (p.Glu4139Lys) c.12397G>A (p.Glu4133Lys) c.12343G>A (p.Glu4115Lys) c.12262G>A (p.Glu4088Lys) c.12205G>A (p.Glu4069Lys) c.10291G>A (p.Glu3431Lys) c.9469G>A (p.Glu3157Lys) n.12309G>A c.12511G>A (p.Glu4171Lys) c.12439G>A (p.Glu4147Lys) c.12301G>A (p.Glu4101Lys) c.10387G>A (p.Glu3463Lys) | gnomAD v4 |
| 16 | g.2090339del | CA2695221501 | PKD1 | c.12391del (p.Glu4131SerfsTer?) c.12388del (p.Glu4130SerfsTer?) n.419del c.9346del (p.Glu3116SerfsTer?) c.12469del (p.Glu4157SerfsTer?) c.12466del (p.Glu4156SerfsTer?) c.12451del (p.Glu4151SerfsTer?) c.12445del (p.Glu4149SerfsTer?) c.12442del (p.Glu4148SerfsTer?) c.12415del (p.Glu4139SerfsTer?) c.12397del (p.Glu4133SerfsTer?) c.12343del (p.Glu4115SerfsTer?) c.12262del (p.Glu4088SerfsTer?) c.12205del (p.Glu4069SerfsTer?) c.10291del (p.Glu3431SerfsTer?) c.9469del (p.Glu3157SerfsTer?) n.12309del c.12511del (p.Glu4171SerfsTer?) c.12439del (p.Glu4147SerfsTer?) c.12301del (p.Glu4101SerfsTer?) c.10387del (p.Glu3463SerfsTer?) | |
| 16 | g.2090341_2090343del | CA2580612734 | PKD1 | c.12389_12391del (p.Val4130del) c.12386_12388del (p.Val4129del) n.417_419del c.9344_9346del (p.Val3115del) c.12467_12469del (p.Val4156del) c.12464_12466del (p.Val4155del) c.12449_12451del (p.Val4150del) c.12443_12445del (p.Val4148del) c.12440_12442del (p.Val4147del) c.12413_12415del (p.Val4138del) c.12395_12397del (p.Val4132del) c.12341_12343del (p.Val4114del) c.12260_12262del (p.Val4087del) c.12203_12205del (p.Val4068del) c.10289_10291del (p.Val3430del) c.9467_9469del (p.Val3156del) n.12307_12309del c.12509_12511del (p.Val4170del) c.12437_12439del (p.Val4146del) c.12299_12301del (p.Val4100del) c.10385_10387del (p.Val3462del) | ClinVar |
| 16 | g.2090339C>A | CA493044217 | PKD1 | c.12390G>T (p.Val4130=) c.12387G>T (p.Val4129=) n.418G>T c.9345G>T (p.Val3115=) c.12468G>T (p.Val4156=) c.12465G>T (p.Val4155=) c.12450G>T (p.Val4150=) c.12444G>T (p.Val4148=) c.12441G>T (p.Val4147=) c.12414G>T (p.Val4138=) c.12396G>T (p.Val4132=) c.12342G>T (p.Val4114=) c.12261G>T (p.Val4087=) c.12204G>T (p.Val4068=) c.10290G>T (p.Val3430=) c.9468G>T (p.Val3156=) n.12308G>T c.12510G>T (p.Val4170=) c.12438G>T (p.Val4146=) c.12300G>T (p.Val4100=) c.10386G>T (p.Val3462=) | gnomAD v4 |
| 16 | g.2090339C= | CA2202041429 | PKD1 | c.12390G= (p.Val4130=) c.12387G= (p.Val4129=) n.418G= c.9345G= (p.Val3115=) c.12468G= (p.Val4156=) c.12465G= (p.Val4155=) c.12450G= (p.Val4150=) c.12444G= (p.Val4148=) c.12441G= (p.Val4147=) c.12414G= (p.Val4138=) c.12396G= (p.Val4132=) c.12342G= (p.Val4114=) c.12261G= (p.Val4087=) c.12204G= (p.Val4068=) c.10290G= (p.Val3430=) c.9468G= (p.Val3156=) n.12308G= c.12510G= (p.Val4170=) c.12438G= (p.Val4146=) c.12300G= (p.Val4100=) c.10386G= (p.Val3462=) | |
| 16 | g.2090339C>G | CA493044218 | PKD1 | c.12390G>C (p.Val4130=) c.12387G>C (p.Val4129=) n.418G>C c.9345G>C (p.Val3115=) c.12468G>C (p.Val4156=) c.12465G>C (p.Val4155=) c.12450G>C (p.Val4150=) c.12444G>C (p.Val4148=) c.12441G>C (p.Val4147=) c.12414G>C (p.Val4138=) c.12396G>C (p.Val4132=) c.12342G>C (p.Val4114=) c.12261G>C (p.Val4087=) c.12204G>C (p.Val4068=) c.10290G>C (p.Val3430=) c.9468G>C (p.Val3156=) n.12308G>C c.12510G>C (p.Val4170=) c.12438G>C (p.Val4146=) c.12300G>C (p.Val4100=) c.10386G>C (p.Val3462=) | |
| 16 | g.2090339C>T | CA7828663 | PKD1 | c.12390G>A (p.Val4130=) c.12387G>A (p.Val4129=) n.418G>A c.9345G>A (p.Val3115=) c.12468G>A (p.Val4156=) c.12465G>A (p.Val4155=) c.12450G>A (p.Val4150=) c.12444G>A (p.Val4148=) c.12441G>A (p.Val4147=) c.12414G>A (p.Val4138=) c.12396G>A (p.Val4132=) c.12342G>A (p.Val4114=) c.12261G>A (p.Val4087=) c.12204G>A (p.Val4068=) c.10290G>A (p.Val3430=) c.9468G>A (p.Val3156=) n.12308G>A c.12510G>A (p.Val4170=) c.12438G>A (p.Val4146=) c.12300G>A (p.Val4100=) c.10386G>A (p.Val3462=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2090340A= | CA2202041432 | PKD1 | c.12389T= (p.Val4130=) c.12386T= (p.Val4129=) n.417T= c.9344T= (p.Val3115=) c.12467T= (p.Val4156=) c.12464T= (p.Val4155=) c.12449T= (p.Val4150=) c.12443T= (p.Val4148=) c.12440T= (p.Val4147=) c.12413T= (p.Val4138=) c.12395T= (p.Val4132=) c.12341T= (p.Val4114=) c.12260T= (p.Val4087=) c.12203T= (p.Val4068=) c.10289T= (p.Val3430=) c.9467T= (p.Val3156=) n.12307T= c.12509T= (p.Val4170=) c.12437T= (p.Val4146=) c.12299T= (p.Val4100=) c.10385T= (p.Val3462=) | |
| 16 | g.2090340A>C | CA394324853 | PKD1 | c.12389T>G (p.Val4130Gly) c.12386T>G (p.Val4129Gly) n.417T>G c.9344T>G (p.Val3115Gly) c.12467T>G (p.Val4156Gly) c.12464T>G (p.Val4155Gly) c.12449T>G (p.Val4150Gly) c.12443T>G (p.Val4148Gly) c.12440T>G (p.Val4147Gly) c.12413T>G (p.Val4138Gly) c.12395T>G (p.Val4132Gly) c.12341T>G (p.Val4114Gly) c.12260T>G (p.Val4087Gly) c.12203T>G (p.Val4068Gly) c.10289T>G (p.Val3430Gly) c.9467T>G (p.Val3156Gly) n.12307T>G c.12509T>G (p.Val4170Gly) c.12437T>G (p.Val4146Gly) c.12299T>G (p.Val4100Gly) c.10385T>G (p.Val3462Gly) | |
| 16 | g.2090340A>G | CA7828664 | PKD1 | c.12389T>C (p.Val4130Ala) c.12386T>C (p.Val4129Ala) n.417T>C c.9344T>C (p.Val3115Ala) c.12467T>C (p.Val4156Ala) c.12464T>C (p.Val4155Ala) c.12449T>C (p.Val4150Ala) c.12443T>C (p.Val4148Ala) c.12440T>C (p.Val4147Ala) c.12413T>C (p.Val4138Ala) c.12395T>C (p.Val4132Ala) c.12341T>C (p.Val4114Ala) c.12260T>C (p.Val4087Ala) c.12203T>C (p.Val4068Ala) c.10289T>C (p.Val3430Ala) c.9467T>C (p.Val3156Ala) n.12307T>C c.12509T>C (p.Val4170Ala) c.12437T>C (p.Val4146Ala) c.12299T>C (p.Val4100Ala) c.10385T>C (p.Val3462Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2090340A>T | CA394324848 | PKD1 | c.12389T>A (p.Val4130Glu) c.12386T>A (p.Val4129Glu) n.417T>A c.9344T>A (p.Val3115Glu) c.12467T>A (p.Val4156Glu) c.12464T>A (p.Val4155Glu) c.12449T>A (p.Val4150Glu) c.12443T>A (p.Val4148Glu) c.12440T>A (p.Val4147Glu) c.12413T>A (p.Val4138Glu) c.12395T>A (p.Val4132Glu) c.12341T>A (p.Val4114Glu) c.12260T>A (p.Val4087Glu) c.12203T>A (p.Val4068Glu) c.10289T>A (p.Val3430Glu) c.9467T>A (p.Val3156Glu) n.12307T>A c.12509T>A (p.Val4170Glu) c.12437T>A (p.Val4146Glu) c.12299T>A (p.Val4100Glu) c.10385T>A (p.Val3462Glu) | |
| 16 | g.2090341C>A | CA394324859 | PKD1 | c.12388G>T (p.Val4130Leu) c.12385G>T (p.Val4129Leu) n.416G>T c.9343G>T (p.Val3115Leu) c.12466G>T (p.Val4156Leu) c.12463G>T (p.Val4155Leu) c.12448G>T (p.Val4150Leu) c.12442G>T (p.Val4148Leu) c.12439G>T (p.Val4147Leu) c.12412G>T (p.Val4138Leu) c.12394G>T (p.Val4132Leu) c.12340G>T (p.Val4114Leu) c.12259G>T (p.Val4087Leu) c.12202G>T (p.Val4068Leu) c.10288G>T (p.Val3430Leu) c.9466G>T (p.Val3156Leu) n.12306G>T c.12508G>T (p.Val4170Leu) c.12436G>T (p.Val4146Leu) c.12298G>T (p.Val4100Leu) c.10384G>T (p.Val3462Leu) | |
| 16 | g.2090341C= | CA2202041435 | PKD1 | c.12388G= (p.Val4130=) c.12385G= (p.Val4129=) n.416G= c.9343G= (p.Val3115=) c.12466G= (p.Val4156=) c.12463G= (p.Val4155=) c.12448G= (p.Val4150=) c.12442G= (p.Val4148=) c.12439G= (p.Val4147=) c.12412G= (p.Val4138=) c.12394G= (p.Val4132=) c.12340G= (p.Val4114=) c.12259G= (p.Val4087=) c.12202G= (p.Val4068=) c.10288G= (p.Val3430=) c.9466G= (p.Val3156=) n.12306G= c.12508G= (p.Val4170=) c.12436G= (p.Val4146=) c.12298G= (p.Val4100=) c.10384G= (p.Val3462=) | |
| 16 | g.2090341C>G | CA394324856 | PKD1 | c.12388G>C (p.Val4130Leu) c.12385G>C (p.Val4129Leu) n.416G>C c.9343G>C (p.Val3115Leu) c.12466G>C (p.Val4156Leu) c.12463G>C (p.Val4155Leu) c.12448G>C (p.Val4150Leu) c.12442G>C (p.Val4148Leu) c.12439G>C (p.Val4147Leu) c.12412G>C (p.Val4138Leu) c.12394G>C (p.Val4132Leu) c.12340G>C (p.Val4114Leu) c.12259G>C (p.Val4087Leu) c.12202G>C (p.Val4068Leu) c.10288G>C (p.Val3430Leu) c.9466G>C (p.Val3156Leu) n.12306G>C c.12508G>C (p.Val4170Leu) c.12436G>C (p.Val4146Leu) c.12298G>C (p.Val4100Leu) c.10384G>C (p.Val3462Leu) | |
| 16 | g.2090341C>T | CA7828665 | PKD1 | c.12388G>A (p.Val4130Met) c.12385G>A (p.Val4129Met) n.416G>A c.9343G>A (p.Val3115Met) c.12466G>A (p.Val4156Met) c.12463G>A (p.Val4155Met) c.12448G>A (p.Val4150Met) c.12442G>A (p.Val4148Met) c.12439G>A (p.Val4147Met) c.12412G>A (p.Val4138Met) c.12394G>A (p.Val4132Met) c.12340G>A (p.Val4114Met) c.12259G>A (p.Val4087Met) c.12202G>A (p.Val4068Met) c.10288G>A (p.Val3430Met) c.9466G>A (p.Val3156Met) n.12306G>A c.12508G>A (p.Val4170Met) c.12436G>A (p.Val4146Met) c.12298G>A (p.Val4100Met) c.10384G>A (p.Val3462Met) | dbSNP ExAC gnomAD v2 |
| 16 | g.2090342C>A | CA394324873 | PKD1 | c.12387G>T (p.Met4129Ile) c.12384G>T (p.Met4128Ile) n.415G>T c.9342G>T (p.Met3114Ile) c.12465G>T (p.Met4155Ile) c.12462G>T (p.Met4154Ile) c.12447G>T (p.Met4149Ile) c.12441G>T (p.Met4147Ile) c.12438G>T (p.Met4146Ile) c.12411G>T (p.Met4137Ile) c.12393G>T (p.Met4131Ile) c.12339G>T (p.Met4113Ile) c.12258G>T (p.Met4086Ile) c.12201G>T (p.Met4067Ile) c.10287G>T (p.Met3429Ile) c.9465G>T (p.Met3155Ile) n.12305G>T c.12507G>T (p.Met4169Ile) c.12435G>T (p.Met4145Ile) c.12297G>T (p.Met4099Ile) c.10383G>T (p.Met3461Ile) | |
| 16 | g.2090342C= | CA2202041439 | PKD1 | c.12387G= (p.Met4129=) c.12384G= (p.Met4128=) n.415G= c.9342G= (p.Met3114=) c.12465G= (p.Met4155=) c.12462G= (p.Met4154=) c.12447G= (p.Met4149=) c.12441G= (p.Met4147=) c.12438G= (p.Met4146=) c.12411G= (p.Met4137=) c.12393G= (p.Met4131=) c.12339G= (p.Met4113=) c.12258G= (p.Met4086=) c.12201G= (p.Met4067=) c.10287G= (p.Met3429=) c.9465G= (p.Met3155=) n.12305G= c.12507G= (p.Met4169=) c.12435G= (p.Met4145=) c.12297G= (p.Met4099=) c.10383G= (p.Met3461=) | |
| 16 | g.2090342C>G | CA7828666 | PKD1 | c.12387G>C (p.Met4129Ile) c.12384G>C (p.Met4128Ile) n.415G>C c.9342G>C (p.Met3114Ile) c.12465G>C (p.Met4155Ile) c.12462G>C (p.Met4154Ile) c.12447G>C (p.Met4149Ile) c.12441G>C (p.Met4147Ile) c.12438G>C (p.Met4146Ile) c.12411G>C (p.Met4137Ile) c.12393G>C (p.Met4131Ile) c.12339G>C (p.Met4113Ile) c.12258G>C (p.Met4086Ile) c.12201G>C (p.Met4067Ile) c.10287G>C (p.Met3429Ile) c.9465G>C (p.Met3155Ile) n.12305G>C c.12507G>C (p.Met4169Ile) c.12435G>C (p.Met4145Ile) c.12297G>C (p.Met4099Ile) c.10383G>C (p.Met3461Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2090342C>T | CA394324876 | PKD1 | c.12387G>A (p.Met4129Ile) c.12384G>A (p.Met4128Ile) n.415G>A c.9342G>A (p.Met3114Ile) c.12465G>A (p.Met4155Ile) c.12462G>A (p.Met4154Ile) c.12447G>A (p.Met4149Ile) c.12441G>A (p.Met4147Ile) c.12438G>A (p.Met4146Ile) c.12411G>A (p.Met4137Ile) c.12393G>A (p.Met4131Ile) c.12339G>A (p.Met4113Ile) c.12258G>A (p.Met4086Ile) c.12201G>A (p.Met4067Ile) c.10287G>A (p.Met3429Ile) c.9465G>A (p.Met3155Ile) n.12305G>A c.12507G>A (p.Met4169Ile) c.12435G>A (p.Met4145Ile) c.12297G>A (p.Met4099Ile) c.10383G>A (p.Met3461Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2090343_2090347del | CA2499223360 | PKD1 | c.12383_12387del (p.Glu4128GlyfsTer27) c.12380_12384del (p.Glu4127GlyfsTer27) n.411_415del c.9338_9342del (p.Glu3113GlyfsTer27) c.12461_12465del (p.Glu4154GlyfsTer27) c.12458_12462del (p.Glu4153GlyfsTer27) c.12443_12447del (p.Glu4148GlyfsTer27) c.12437_12441del (p.Glu4146GlyfsTer27) c.12434_12438del (p.Glu4145GlyfsTer27) c.12407_12411del (p.Glu4136GlyfsTer27) c.12389_12393del (p.Glu4130GlyfsTer27) c.12335_12339del (p.Glu4112GlyfsTer27) c.12254_12258del (p.Glu4085GlyfsTer27) c.12197_12201del (p.Glu4066GlyfsTer27) c.10283_10287del (p.Glu3428GlyfsTer27) c.9461_9465del (p.Glu3154GlyfsTer27) n.12301_12305del c.12503_12507del (p.Glu4168GlyfsTer27) c.12431_12435del (p.Glu4144GlyfsTer27) c.12293_12297del (p.Glu4098GlyfsTer27) c.10379_10383del (p.Glu3460GlyfsTer27) | ClinVar dbSNP |
| 16 | g.2090343A= | CA2202041443 | PKD1 | c.12386T= (p.Met4129=) c.12383T= (p.Met4128=) n.414T= c.9341T= (p.Met3114=) c.12464T= (p.Met4155=) c.12461T= (p.Met4154=) c.12446T= (p.Met4149=) c.12440T= (p.Met4147=) c.12437T= (p.Met4146=) c.12410T= (p.Met4137=) c.12392T= (p.Met4131=) c.12338T= (p.Met4113=) c.12257T= (p.Met4086=) c.12200T= (p.Met4067=) c.10286T= (p.Met3429=) c.9464T= (p.Met3155=) n.12304T= c.12506T= (p.Met4169=) c.12434T= (p.Met4145=) c.12296T= (p.Met4099=) c.10382T= (p.Met3461=) | |
| 16 | g.2090343A>C | CA394324884 | PKD1 | c.12386T>G (p.Met4129Arg) c.12383T>G (p.Met4128Arg) n.414T>G c.9341T>G (p.Met3114Arg) c.12464T>G (p.Met4155Arg) c.12461T>G (p.Met4154Arg) c.12446T>G (p.Met4149Arg) c.12440T>G (p.Met4147Arg) c.12437T>G (p.Met4146Arg) c.12410T>G (p.Met4137Arg) c.12392T>G (p.Met4131Arg) c.12338T>G (p.Met4113Arg) c.12257T>G (p.Met4086Arg) c.12200T>G (p.Met4067Arg) c.10286T>G (p.Met3429Arg) c.9464T>G (p.Met3155Arg) n.12304T>G c.12506T>G (p.Met4169Arg) c.12434T>G (p.Met4145Arg) c.12296T>G (p.Met4099Arg) c.10382T>G (p.Met3461Arg) | ClinVar dbSNP |
| 16 | g.2090343A>G | CA394324887 | PKD1 | c.12386T>C (p.Met4129Thr) c.12383T>C (p.Met4128Thr) n.414T>C c.9341T>C (p.Met3114Thr) c.12464T>C (p.Met4155Thr) c.12461T>C (p.Met4154Thr) c.12446T>C (p.Met4149Thr) c.12440T>C (p.Met4147Thr) c.12437T>C (p.Met4146Thr) c.12410T>C (p.Met4137Thr) c.12392T>C (p.Met4131Thr) c.12338T>C (p.Met4113Thr) c.12257T>C (p.Met4086Thr) c.12200T>C (p.Met4067Thr) c.10286T>C (p.Met3429Thr) c.9464T>C (p.Met3155Thr) n.12304T>C c.12506T>C (p.Met4169Thr) c.12434T>C (p.Met4145Thr) c.12296T>C (p.Met4099Thr) c.10382T>C (p.Met3461Thr) | |
| 16 | g.2090343A>T | CA394324889 | PKD1 | c.12386T>A (p.Met4129Lys) c.12383T>A (p.Met4128Lys) n.414T>A c.9341T>A (p.Met3114Lys) c.12464T>A (p.Met4155Lys) c.12461T>A (p.Met4154Lys) c.12446T>A (p.Met4149Lys) c.12440T>A (p.Met4147Lys) c.12437T>A (p.Met4146Lys) c.12410T>A (p.Met4137Lys) c.12392T>A (p.Met4131Lys) c.12338T>A (p.Met4113Lys) c.12257T>A (p.Met4086Lys) c.12200T>A (p.Met4067Lys) c.10286T>A (p.Met3429Lys) c.9464T>A (p.Met3155Lys) n.12304T>A c.12506T>A (p.Met4169Lys) c.12434T>A (p.Met4145Lys) c.12296T>A (p.Met4099Lys) c.10382T>A (p.Met3461Lys) | |
| 16 | g.2090344del | CA2695221504 | PKD1 | c.12385del (p.Met4129TrpfsTer?) c.12382del (p.Met4128TrpfsTer?) n.413del c.9340del (p.Met3114TrpfsTer?) c.12463del (p.Met4155TrpfsTer?) c.12460del (p.Met4154TrpfsTer?) c.12445del (p.Met4149TrpfsTer?) c.12439del (p.Met4147TrpfsTer?) c.12436del (p.Met4146TrpfsTer?) c.12409del (p.Met4137TrpfsTer?) c.12391del (p.Met4131TrpfsTer?) c.12337del (p.Met4113TrpfsTer?) c.12256del (p.Met4086TrpfsTer?) c.12199del (p.Met4067TrpfsTer?) c.10285del (p.Met3429TrpfsTer?) c.9463del (p.Met3155TrpfsTer?) n.12303del c.12505del (p.Met4169TrpfsTer?) c.12433del (p.Met4145TrpfsTer?) c.12295del (p.Met4099TrpfsTer?) c.10381del (p.Met3461TrpfsTer?) | |
| 16 | g.2090344T>A | CA394324894 | PKD1 | c.12385A>T (p.Met4129Leu) c.12382A>T (p.Met4128Leu) n.413A>T c.9340A>T (p.Met3114Leu) c.12463A>T (p.Met4155Leu) c.12460A>T (p.Met4154Leu) c.12445A>T (p.Met4149Leu) c.12439A>T (p.Met4147Leu) c.12436A>T (p.Met4146Leu) c.12409A>T (p.Met4137Leu) c.12391A>T (p.Met4131Leu) c.12337A>T (p.Met4113Leu) c.12256A>T (p.Met4086Leu) c.12199A>T (p.Met4067Leu) c.10285A>T (p.Met3429Leu) c.9463A>T (p.Met3155Leu) n.12303A>T c.12505A>T (p.Met4169Leu) c.12433A>T (p.Met4145Leu) c.12295A>T (p.Met4099Leu) c.10381A>T (p.Met3461Leu) | |
| 16 | g.2090344T>C | CA394324896 | PKD1 | c.12385A>G (p.Met4129Val) c.12382A>G (p.Met4128Val) n.413A>G c.9340A>G (p.Met3114Val) c.12463A>G (p.Met4155Val) c.12460A>G (p.Met4154Val) c.12445A>G (p.Met4149Val) c.12439A>G (p.Met4147Val) c.12436A>G (p.Met4146Val) c.12409A>G (p.Met4137Val) c.12391A>G (p.Met4131Val) c.12337A>G (p.Met4113Val) c.12256A>G (p.Met4086Val) c.12199A>G (p.Met4067Val) c.10285A>G (p.Met3429Val) c.9463A>G (p.Met3155Val) n.12303A>G c.12505A>G (p.Met4169Val) c.12433A>G (p.Met4145Val) c.12295A>G (p.Met4099Val) c.10381A>G (p.Met3461Val) | dbSNP gnomAD v2 |
| 16 | g.2090344T>G | CA394324901 | PKD1 | c.12385A>C (p.Met4129Leu) c.12382A>C (p.Met4128Leu) n.413A>C c.9340A>C (p.Met3114Leu) c.12463A>C (p.Met4155Leu) c.12460A>C (p.Met4154Leu) c.12445A>C (p.Met4149Leu) c.12439A>C (p.Met4147Leu) c.12436A>C (p.Met4146Leu) c.12409A>C (p.Met4137Leu) c.12391A>C (p.Met4131Leu) c.12337A>C (p.Met4113Leu) c.12256A>C (p.Met4086Leu) c.12199A>C (p.Met4067Leu) c.10285A>C (p.Met3429Leu) c.9463A>C (p.Met3155Leu) n.12303A>C c.12505A>C (p.Met4169Leu) c.12433A>C (p.Met4145Leu) c.12295A>C (p.Met4099Leu) c.10381A>C (p.Met3461Leu) | |
| 16 | g.2090344T= | CA2202041446 | PKD1 | c.12385A= (p.Met4129=) c.12382A= (p.Met4128=) n.413A= c.9340A= (p.Met3114=) c.12463A= (p.Met4155=) c.12460A= (p.Met4154=) c.12445A= (p.Met4149=) c.12439A= (p.Met4147=) c.12436A= (p.Met4146=) c.12409A= (p.Met4137=) c.12391A= (p.Met4131=) c.12337A= (p.Met4113=) c.12256A= (p.Met4086=) c.12199A= (p.Met4067=) c.10285A= (p.Met3429=) c.9463A= (p.Met3155=) n.12303A= c.12505A= (p.Met4169=) c.12433A= (p.Met4145=) c.12295A= (p.Met4099=) c.10381A= (p.Met3461=) | |
| 16 | g.2090345C>A | CA394324905 | PKD1 | c.12384G>T (p.Glu4128Asp) c.12381G>T (p.Glu4127Asp) n.412G>T c.9339G>T (p.Glu3113Asp) c.12462G>T (p.Glu4154Asp) c.12459G>T (p.Glu4153Asp) c.12444G>T (p.Glu4148Asp) c.12438G>T (p.Glu4146Asp) c.12435G>T (p.Glu4145Asp) c.12408G>T (p.Glu4136Asp) c.12390G>T (p.Glu4130Asp) c.12336G>T (p.Glu4112Asp) c.12255G>T (p.Glu4085Asp) c.12198G>T (p.Glu4066Asp) c.10284G>T (p.Glu3428Asp) c.9462G>T (p.Glu3154Asp) n.12302G>T c.12504G>T (p.Glu4168Asp) c.12432G>T (p.Glu4144Asp) c.12294G>T (p.Glu4098Asp) c.10380G>T (p.Glu3460Asp) | |
| 16 | g.2090345C= | CA2202041451 | PKD1 | c.12384G= (p.Glu4128=) c.12381G= (p.Glu4127=) n.412G= c.9339G= (p.Glu3113=) c.12462G= (p.Glu4154=) c.12459G= (p.Glu4153=) c.12444G= (p.Glu4148=) c.12438G= (p.Glu4146=) c.12435G= (p.Glu4145=) c.12408G= (p.Glu4136=) c.12390G= (p.Glu4130=) c.12336G= (p.Glu4112=) c.12255G= (p.Glu4085=) c.12198G= (p.Glu4066=) c.10284G= (p.Glu3428=) c.9462G= (p.Glu3154=) n.12302G= c.12504G= (p.Glu4168=) c.12432G= (p.Glu4144=) c.12294G= (p.Glu4098=) c.10380G= (p.Glu3460=) | |
| 16 | g.2090345C>G | CA394324907 | PKD1 | c.12384G>C (p.Glu4128Asp) c.12381G>C (p.Glu4127Asp) n.412G>C c.9339G>C (p.Glu3113Asp) c.12462G>C (p.Glu4154Asp) c.12459G>C (p.Glu4153Asp) c.12444G>C (p.Glu4148Asp) c.12438G>C (p.Glu4146Asp) c.12435G>C (p.Glu4145Asp) c.12408G>C (p.Glu4136Asp) c.12390G>C (p.Glu4130Asp) c.12336G>C (p.Glu4112Asp) c.12255G>C (p.Glu4085Asp) c.12198G>C (p.Glu4066Asp) c.10284G>C (p.Glu3428Asp) c.9462G>C (p.Glu3154Asp) n.12302G>C c.12504G>C (p.Glu4168Asp) c.12432G>C (p.Glu4144Asp) c.12294G>C (p.Glu4098Asp) c.10380G>C (p.Glu3460Asp) | |
| 16 | g.2090345C>T | CA276763998 | PKD1 | c.12384G>A (p.Glu4128=) c.12381G>A (p.Glu4127=) n.412G>A c.9339G>A (p.Glu3113=) c.12462G>A (p.Glu4154=) c.12459G>A (p.Glu4153=) c.12444G>A (p.Glu4148=) c.12438G>A (p.Glu4146=) c.12435G>A (p.Glu4145=) c.12408G>A (p.Glu4136=) c.12390G>A (p.Glu4130=) c.12336G>A (p.Glu4112=) c.12255G>A (p.Glu4085=) c.12198G>A (p.Glu4066=) c.10284G>A (p.Glu3428=) c.9462G>A (p.Glu3154=) n.12302G>A c.12504G>A (p.Glu4168=) c.12432G>A (p.Glu4144=) c.12294G>A (p.Glu4098=) c.10380G>A (p.Glu3460=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2090346T>A | CA394324914 | PKD1 | c.12383A>T (p.Glu4128Val) c.12380A>T (p.Glu4127Val) n.411A>T c.9338A>T (p.Glu3113Val) c.12461A>T (p.Glu4154Val) c.12458A>T (p.Glu4153Val) c.12443A>T (p.Glu4148Val) c.12437A>T (p.Glu4146Val) c.12434A>T (p.Glu4145Val) c.12407A>T (p.Glu4136Val) c.12389A>T (p.Glu4130Val) c.12335A>T (p.Glu4112Val) c.12254A>T (p.Glu4085Val) c.12197A>T (p.Glu4066Val) c.10283A>T (p.Glu3428Val) c.9461A>T (p.Glu3154Val) n.12301A>T c.12503A>T (p.Glu4168Val) c.12431A>T (p.Glu4144Val) c.12293A>T (p.Glu4098Val) c.10379A>T (p.Glu3460Val) | |
| 16 | g.2090346T>C | CA394324918 | PKD1 | c.12383A>G (p.Glu4128Gly) c.12380A>G (p.Glu4127Gly) n.411A>G c.9338A>G (p.Glu3113Gly) c.12461A>G (p.Glu4154Gly) c.12458A>G (p.Glu4153Gly) c.12443A>G (p.Glu4148Gly) c.12437A>G (p.Glu4146Gly) c.12434A>G (p.Glu4145Gly) c.12407A>G (p.Glu4136Gly) c.12389A>G (p.Glu4130Gly) c.12335A>G (p.Glu4112Gly) c.12254A>G (p.Glu4085Gly) c.12197A>G (p.Glu4066Gly) c.10283A>G (p.Glu3428Gly) c.9461A>G (p.Glu3154Gly) n.12301A>G c.12503A>G (p.Glu4168Gly) c.12431A>G (p.Glu4144Gly) c.12293A>G (p.Glu4098Gly) c.10379A>G (p.Glu3460Gly) | gnomAD v4 |
| 16 | g.2090346T>G | CA394324922 | PKD1 | c.12383A>C (p.Glu4128Ala) c.12380A>C (p.Glu4127Ala) n.411A>C c.9338A>C (p.Glu3113Ala) c.12461A>C (p.Glu4154Ala) c.12458A>C (p.Glu4153Ala) c.12443A>C (p.Glu4148Ala) c.12437A>C (p.Glu4146Ala) c.12434A>C (p.Glu4145Ala) c.12407A>C (p.Glu4136Ala) c.12389A>C (p.Glu4130Ala) c.12335A>C (p.Glu4112Ala) c.12254A>C (p.Glu4085Ala) c.12197A>C (p.Glu4066Ala) c.10283A>C (p.Glu3428Ala) c.9461A>C (p.Glu3154Ala) n.12301A>C c.12503A>C (p.Glu4168Ala) c.12431A>C (p.Glu4144Ala) c.12293A>C (p.Glu4098Ala) c.10379A>C (p.Glu3460Ala) | |
| 16 | g.2090347C>A | CA394324930 | PKD1 | c.12382G>T (p.Glu4128Ter) c.12379G>T (p.Glu4127Ter) n.410G>T c.9337G>T (p.Glu3113Ter) c.12460G>T (p.Glu4154Ter) c.12457G>T (p.Glu4153Ter) c.12442G>T (p.Glu4148Ter) c.12436G>T (p.Glu4146Ter) c.12433G>T (p.Glu4145Ter) c.12406G>T (p.Glu4136Ter) c.12388G>T (p.Glu4130Ter) c.12334G>T (p.Glu4112Ter) c.12253G>T (p.Glu4085Ter) c.12196G>T (p.Glu4066Ter) c.10282G>T (p.Glu3428Ter) c.9460G>T (p.Glu3154Ter) n.12300G>T c.12502G>T (p.Glu4168Ter) c.12430G>T (p.Glu4144Ter) c.12292G>T (p.Glu4098Ter) c.10378G>T (p.Glu3460Ter) | ClinVar |
| 16 | g.2090347C= | CA2202041457 | PKD1 | c.12382G= (p.Glu4128=) c.12379G= (p.Glu4127=) n.410G= c.9337G= (p.Glu3113=) c.12460G= (p.Glu4154=) c.12457G= (p.Glu4153=) c.12442G= (p.Glu4148=) c.12436G= (p.Glu4146=) c.12433G= (p.Glu4145=) c.12406G= (p.Glu4136=) c.12388G= (p.Glu4130=) c.12334G= (p.Glu4112=) c.12253G= (p.Glu4085=) c.12196G= (p.Glu4066=) c.10282G= (p.Glu3428=) c.9460G= (p.Glu3154=) n.12300G= c.12502G= (p.Glu4168=) c.12430G= (p.Glu4144=) c.12292G= (p.Glu4098=) c.10378G= (p.Glu3460=) | |
| 16 | g.2090347C>G | CA394324928 | PKD1 | c.12382G>C (p.Glu4128Gln) c.12379G>C (p.Glu4127Gln) n.410G>C c.9337G>C (p.Glu3113Gln) c.12460G>C (p.Glu4154Gln) c.12457G>C (p.Glu4153Gln) c.12442G>C (p.Glu4148Gln) c.12436G>C (p.Glu4146Gln) c.12433G>C (p.Glu4145Gln) c.12406G>C (p.Glu4136Gln) c.12388G>C (p.Glu4130Gln) c.12334G>C (p.Glu4112Gln) c.12253G>C (p.Glu4085Gln) c.12196G>C (p.Glu4066Gln) c.10282G>C (p.Glu3428Gln) c.9460G>C (p.Glu3154Gln) n.12300G>C c.12502G>C (p.Glu4168Gln) c.12430G>C (p.Glu4144Gln) c.12292G>C (p.Glu4098Gln) c.10378G>C (p.Glu3460Gln) | dbSNP gnomAD v4 |
| 16 | g.2090347C>T | CA394324926 | PKD1 | c.12382G>A (p.Glu4128Lys) c.12379G>A (p.Glu4127Lys) n.410G>A c.9337G>A (p.Glu3113Lys) c.12460G>A (p.Glu4154Lys) c.12457G>A (p.Glu4153Lys) c.12442G>A (p.Glu4148Lys) c.12436G>A (p.Glu4146Lys) c.12433G>A (p.Glu4145Lys) c.12406G>A (p.Glu4136Lys) c.12388G>A (p.Glu4130Lys) c.12334G>A (p.Glu4112Lys) c.12253G>A (p.Glu4085Lys) c.12196G>A (p.Glu4066Lys) c.10282G>A (p.Glu3428Lys) c.9460G>A (p.Glu3154Lys) n.12300G>A c.12502G>A (p.Glu4168Lys) c.12430G>A (p.Glu4144Lys) c.12292G>A (p.Glu4098Lys) c.10378G>A (p.Glu3460Lys) | ClinVar dbSNP |