Full data view for gene PKD1L1

Information The variants shown are described using the NM_138295.3 transcript reference sequence.

663 entries on 7 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-29G>A r.(=) p.(=) g.47988066C>T Copied from the Exome Variant Server PKD1L1_000551 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-15C>T r.(=) p.(=) g.47988052G>A Copied from the Exome Variant Server PKD1L1_000550 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-6C>T r.(=) p.(=) g.47988043G>A Copied from the Exome Variant Server PKD1L1_000549 1/13006 0/8600 1/4406 - - - - - - -
?/? c.25A>G r.(?) p.(Ile9Val) g.47988013T>C Copied from the Exome Variant Server PKD1L1_000548 1/13006 0/8600 1/4406 - - - - - - -
?/? c.44+8A>G r.(=) p.(=) g.47987986T>C Copied from the Exome Variant Server PKD1L1_000547 1/13006 1/8600 0/4406 - - - - - - -
?/? c.44+9T>G r.(=) p.(=) g.47987985A>C Copied from the Exome Variant Server PKD1L1_000546 119/13006 2/8600 117/4406 - - - - - - -
?/? c.44+25G>A r.(=) p.(=) g.47987969C>T Copied from the Exome Variant Server PKD1L1_000545 39/13006 1/8600 38/4406 - - - - - - -
?/? c.45-47C>T r.(=) p.(=) g.47983155G>A Copied from the Exome Variant Server PKD1L1_000543 3/13000 3/8596 0/4404 - - - - - - -
?/? c.45-46G>A r.(=) p.(=) g.47983154C>T Copied from the Exome Variant Server PKD1L1_000541 1/13000 1/8596 0/4404 - - - - - - -
?/? c.45-25C>T r.(=) p.(=) g.47983133G>A Copied from the Exome Variant Server PKD1L1_000539 1/13006 0/8600 1/4406 - - - - - - -
?/? c.55G>A r.(?) p.(Ala19Thr) g.47983098C>T Copied from the Exome Variant Server PKD1L1_000537 1/13006 0/8600 1/4406 - - - - - - -
?/? c.57_66del r.(?) p.(Ala20Phefs*9) g.47983087_47983096del Copied from the Exome Variant Server PKD1L1_000535 1/12518 0/8254 1/4264 - - - - - - -
?/? c.122T>A r.(?) p.(Leu41Gln) g.47983031A>T Copied from the Exome Variant Server PKD1L1_000533 1/13006 0/8600 1/4406 - - - - - - -
?/? c.159C>T r.(=) p.(=) g.47982994G>A Copied from the Exome Variant Server PKD1L1_000544 1/13006 1/8600 0/4406 - - - - - - -
?/? c.160G>A r.(?) p.(Glu54Lys) g.47982993C>T Copied from the Exome Variant Server PKD1L1_000542 1/13006 0/8600 1/4406 - - - - - - -
?/? c.161-8T>C r.(=) p.(=) g.47979922A>G Copied from the Exome Variant Server PKD1L1_000540 6624/13006 4346/8600 2278/4406 - - - - - - -
?/? c.167A>G r.(?) p.(Tyr56Cys) g.47979908T>C Copied from the Exome Variant Server PKD1L1_000538 5/13006 0/8600 5/4406 - - - - - - -
?/? c.244C>T r.(?) p.(Arg82Trp) g.47979831G>A Copied from the Exome Variant Server PKD1L1_000536 1/13006 1/8600 0/4406 - - - - - - -
?/? c.245G>A r.(?) p.(Arg82Gln) g.47979830C>T Copied from the Exome Variant Server PKD1L1_000534 2/13006 2/8600 0/4406 - - - - - - -
?/? c.260C>A r.(?) p.(Pro87Gln) g.47979815G>T Copied from the Exome Variant Server PKD1L1_000532 1/13006 0/8600 1/4406 - - - - - - -
?/? c.264C>A r.(=) p.(=) g.47979811G>T Copied from the Exome Variant Server PKD1L1_000531 5/13006 0/8600 5/4406 - - - - - - -
?/? c.271G>C r.(?) p.(Ala91Pro) g.47979804C>G Copied from the Exome Variant Server PKD1L1_000530 1/13006 0/8600 1/4406 - - - - - - -
?/? c.286-34C>T r.(=) p.(=) g.47976589G>A Copied from the Exome Variant Server PKD1L1_000529 1/12998 0/8600 1/4398 - - - - - - -
?/? c.286-22A>G r.(=) p.(=) g.47976577T>C Copied from the Exome Variant Server PKD1L1_000528 10/12998 0/8598 10/4400 - - - - - - -
?/? c.286-15T>G r.(=) p.(=) g.47976570A>C Copied from the Exome Variant Server PKD1L1_000527 1/13000 1/8598 0/4402 - - - - - - -
?/? c.298A>G r.(?) p.(Thr100Ala) g.47976543T>C Copied from the Exome Variant Server PKD1L1_000526 1/13002 0/8598 1/4404 - - - - - - -
?/? c.314C>T r.(?) p.(Ala105Val) g.47976527G>A Copied from the Exome Variant Server PKD1L1_000525 1/13002 1/8598 0/4404 - - - - - - -
?/? c.315G>A r.(=) p.(=) g.47976526C>T Copied from the Exome Variant Server PKD1L1_000524 1/13002 1/8598 0/4404 - - - - - - -
?/? c.368C>T r.(?) p.(Ala123Val) g.47976473G>A Copied from the Exome Variant Server PKD1L1_000523 1/13004 0/8600 1/4404 - - - - - - -
?/? c.369G>A r.(=) p.(=) g.47976472C>T Copied from the Exome Variant Server PKD1L1_000522 1/13004 0/8600 1/4404 - - - - - - -
?/? c.383A>G r.(?) p.(Asp128Gly) g.47976458T>C Copied from the Exome Variant Server PKD1L1_000521 1/13004 0/8600 1/4404 - - - - - - -
?/? c.391G>A r.(?) p.(Ala131Thr) g.47976450C>T Copied from the Exome Variant Server PKD1L1_000520 1/13004 1/8600 0/4404 - - - - - - -
?/? c.398+3A>G r.spl? p.? g.47976440T>C Copied from the Exome Variant Server PKD1L1_000519 1/13004 0/8600 1/4404 - - - - - - -
?/? c.398+9A>G r.(=) p.(=) g.47976434T>C Copied from the Exome Variant Server PKD1L1_000518 1/13006 0/8600 1/4406 - - - - - - -
?/? c.398+21G>A r.(=) p.(=) g.47976422C>T Copied from the Exome Variant Server PKD1L1_000517 6/13006 4/8600 2/4406 - - - - - - -
?/? c.398+27T>C r.(=) p.(=) g.47976416A>G Copied from the Exome Variant Server PKD1L1_000516 2/13006 0/8600 2/4406 - - - - - - -
?/? c.399-6A>G r.(=) p.(=) g.47971659T>C Copied from the Exome Variant Server PKD1L1_000515 22/13006 21/8600 1/4406 - - - - - - -
?/? c.426C>T r.(=) p.(=) g.47971626G>A Copied from the Exome Variant Server PKD1L1_000514 1435/13006 832/8600 603/4406 - - - - - - -
?/? c.427G>A r.(?) p.(Ala143Thr) g.47971625C>T Copied from the Exome Variant Server PKD1L1_000513 1/13006 1/8600 0/4406 - - - - - - -
?/? c.431G>A r.(?) p.(Arg144Lys) g.47971621C>T Copied from the Exome Variant Server PKD1L1_000512 1/13006 0/8600 1/4406 - - - - - - -
?/? c.434C>T r.(?) p.(Ala145Val) g.47971618G>A Copied from the Exome Variant Server PKD1L1_000511 1/13006 1/8600 0/4406 - - - - - - -
?/? c.477T>C r.(=) p.(=) g.47971575A>G Copied from the Exome Variant Server PKD1L1_000510 6415/13006 4356/8600 2059/4406 - - - - - - -
?/? c.489C>G r.(=) p.(=) g.47971563G>C Copied from the Exome Variant Server PKD1L1_000509 50/13006 0/8600 50/4406 - - - - - - -
?/? c.490G>A r.(?) p.(Ala164Thr) g.47971562C>T Copied from the Exome Variant Server PKD1L1_000508 44/13006 1/8600 43/4406 - - - - - - -
?/? c.519+4G>A r.spl? p.? g.47971529C>T Copied from the Exome Variant Server PKD1L1_000507 2/13006 0/8600 2/4406 - - - - - - -
?/? c.520-50T>G r.(=) p.(=) g.47970968A>C Copied from the Exome Variant Server PKD1L1_000506 18/13002 0/8598 18/4404 - - - - - - -
?/? c.520-43C>T r.(=) p.(=) g.47970961G>A Copied from the Exome Variant Server PKD1L1_000505 524/12998 471/8598 53/4400 - - - - - - -
?/? c.520-39G>A r.(=) p.(=) g.47970957C>T Copied from the Exome Variant Server PKD1L1_000504 2/13006 2/8600 0/4406 - - - - - - -
?/? c.520-17G>T r.(=) p.(=) g.47970935C>A Copied from the Exome Variant Server PKD1L1_000503 21/13006 0/8600 21/4406 - - - - - - -
?/? c.528C>T r.(=) p.(=) g.47970910G>A Copied from the Exome Variant Server PKD1L1_000502 15/13006 0/8600 15/4406 - - - - - - -
?/? c.583C>T r.(=) p.(=) g.47970855G>A Copied from the Exome Variant Server PKD1L1_000501 1/13006 1/8600 0/4406 - - - - - - -
?/? c.585G>C r.(=) p.(=) g.47970853C>G Copied from the Exome Variant Server PKD1L1_000500 1/13006 1/8600 0/4406 - - - - - - -
?/? c.603G>A r.(=) p.(=) g.47970835C>T Copied from the Exome Variant Server PKD1L1_000499 1/13006 0/8600 1/4406 - - - - - - -
?/? c.618G>T r.(=) p.(=) g.47970820C>A Copied from the Exome Variant Server PKD1L1_000498 1/13006 1/8600 0/4406 - - - - - - -
?/? c.631G>A r.(?) p.(Gly211Arg) g.47970807C>T Copied from the Exome Variant Server PKD1L1_000497 22/13006 0/8600 22/4406 - - - - - - -
?/? c.658A>G r.(?) p.(Lys220Glu) g.47970780T>C Copied from the Exome Variant Server PKD1L1_000496 1/13006 0/8600 1/4406 - - - - - - -
?/? c.671C>T r.(?) p.(Pro224Leu) g.47970767G>A Copied from the Exome Variant Server PKD1L1_000494 1/13006 0/8600 1/4406 - - - - - - -
?/? c.692G>A r.(?) p.(Arg231Gln) g.47970746C>T Copied from the Exome Variant Server PKD1L1_000492 1/13006 0/8600 1/4406 - - - - - - -
?/? c.702G>A r.(=) p.(=) g.47970736C>T Copied from the Exome Variant Server PKD1L1_000490 1/13006 1/8600 0/4406 - - - - - - -
?/? c.731C>T r.(?) p.(Pro244Leu) g.47970707G>A Copied from the Exome Variant Server PKD1L1_000488 76/13006 68/8600 8/4406 - - - - - - -
?/? c.735A>G r.(=) p.(=) g.47970703T>C Copied from the Exome Variant Server PKD1L1_000486 1/13006 0/8600 1/4406 - - - - - - -
?/? c.737+5G>A r.spl? p.? g.47970696C>T Copied from the Exome Variant Server PKD1L1_000484 1/13006 0/8600 1/4406 - - - - - - -
?/? c.737+6G>A r.(=) p.(=) g.47970695C>T Copied from the Exome Variant Server PKD1L1_000482 1/13006 0/8600 1/4406 - - - - - - -
?/? c.737+11G>A r.(=) p.(=) g.47970690C>T Copied from the Exome Variant Server PKD1L1_000495 22/13006 0/8600 22/4406 - - - - - - -
?/? c.737+17A>G r.(=) p.(=) g.47970684T>C Copied from the Exome Variant Server PKD1L1_000493 1/13006 1/8600 0/4406 - - - - - - -
?/? c.737+51T>C r.(=) p.(=) g.47970650A>G Copied from the Exome Variant Server PKD1L1_000491 1/13006 0/8600 1/4406 - - - - - - -
?/? c.738-50C>A r.(=) p.(=) g.47969173G>T Copied from the Exome Variant Server PKD1L1_000489 1/13002 1/8598 0/4404 - - - - - - -
?/? c.738-17C>T r.(=) p.(=) g.47969140G>A Copied from the Exome Variant Server PKD1L1_000487 1/13006 0/8600 1/4406 - - - - - - -
?/? c.766C>T r.(?) p.(Arg256Cys) g.47969095G>A Copied from the Exome Variant Server PKD1L1_000485 3/13006 3/8600 0/4406 - - - - - - -
?/? c.776G>C r.(?) p.(Ser259Thr) g.47969085C>G Copied from the Exome Variant Server PKD1L1_000483 1/13006 1/8600 0/4406 - - - - - - -
?/? c.846A>G r.(=) p.(=) g.47969015T>C Copied from the Exome Variant Server PKD1L1_000481 1/13006 0/8600 1/4406 - - - - - - -
?/? c.908G>A r.(?) p.(Arg303Gln) g.47968953C>T Copied from the Exome Variant Server PKD1L1_000480 49/13006 47/8600 2/4406 - - - - - - -
?/? c.913C>T r.(?) p.(Pro305Ser) g.47968948G>A Copied from the Exome Variant Server PKD1L1_000479 4/13006 0/8600 4/4406 - - - - - - -
?/? c.933T>C r.(=) p.(=) g.47968928A>G Copied from the Exome Variant Server PKD1L1_000478 424/13006 4/8600 420/4406 - - - - - - -
?/? c.934G>T r.(?) p.(Val312Phe) g.47968927C>A Copied from the Exome Variant Server PKD1L1_000477 6402/13006 4220/8600 2182/4406 - - - - - - -
?/? c.938A>G r.(?) p.(His313Arg) g.47968923T>C Copied from the Exome Variant Server PKD1L1_000476 7/13006 6/8600 1/4406 - - - - - - -
?/? c.1011C>G r.(?) p.(His337Gln) g.47968850G>C Copied from the Exome Variant Server PKD1L1_000475 35/13006 0/8600 35/4406 - - - - - - -
?/? c.1031C>T r.(?) p.(Ala344Val) g.47968830G>A Copied from the Exome Variant Server PKD1L1_000474 16/13006 0/8600 16/4406 - - - - - - -
?/? c.1047C>G r.(?) p.(His349Gln) g.47968814G>C Copied from the Exome Variant Server PKD1L1_000473 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1058_1059del r.(?) p.(Lys353Argfs*34) g.47968802_47968803del Copied from the Exome Variant Server PKD1L1_000472 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1060+1G>T r.spl? p.? g.47968800C>A Copied from the Exome Variant Server PKD1L1_000471 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1061G>A r.(?) p.(Gly354Asp) g.47955196C>T Copied from the Exome Variant Server PKD1L1_000470 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1071_1072insT r.(?) p.(His358Serfs*30) g.47955185_47955186insA Copied from the Exome Variant Server PKD1L1_000469 5/12518 4/8254 1/4264 - - - - - - -
?/? c.1090T>C r.(=) p.(=) g.47955167A>G Copied from the Exome Variant Server PKD1L1_000468 173/13006 0/8600 173/4406 - - - - - - -
?/? c.1192A>C r.(?) p.(Asn398His) g.47955065T>G Copied from the Exome Variant Server PKD1L1_000467 15/13006 0/8600 15/4406 - - - - - - -
?/? c.1208T>C r.(?) p.(Leu403Pro) g.47955049A>G Copied from the Exome Variant Server PKD1L1_000466 136/13006 87/8600 49/4406 - - - - - - -
?/? c.1229-16A>G r.(=) p.(=) g.47947863T>C Copied from the Exome Variant Server PKD1L1_000465 9215/13006 5343/8600 3872/4406 - - - - - - -
?/? c.1240A>G r.(?) p.(Met414Val) g.47947836T>C Copied from the Exome Variant Server PKD1L1_000464 33/13006 0/8600 33/4406 - - - - - - -
?/? c.1263C>T r.(=) p.(=) g.47947813G>A Copied from the Exome Variant Server PKD1L1_000463 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1277C>A r.(?) p.(Thr426Asn) g.47947799G>T Copied from the Exome Variant Server PKD1L1_000462 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1279G>A r.(?) p.(Glu427Lys) g.47947797C>T Copied from the Exome Variant Server PKD1L1_000461 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1308G>T r.(?) p.(Glu436Asp) g.47947768C>A Copied from the Exome Variant Server PKD1L1_000460 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1324G>A r.(?) p.(Val442Met) g.47947752C>T Copied from the Exome Variant Server PKD1L1_000459 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1362T>G r.(?) p.(Asp454Glu) g.47947714A>C Copied from the Exome Variant Server PKD1L1_000458 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1369C>T r.(?) p.(Leu457Phe) g.47947707G>A Copied from the Exome Variant Server PKD1L1_000457 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1379C>T r.(?) p.(Ala460Val) g.47947697G>A Copied from the Exome Variant Server PKD1L1_000456 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1392G>A r.(=) p.(=) g.47947684C>T Copied from the Exome Variant Server PKD1L1_000455 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1402+7C>T r.(=) p.(=) g.47947667G>A Copied from the Exome Variant Server PKD1L1_000454 119/13006 3/8600 116/4406 - - - - - - -
?/? c.1403-36G>A r.(=) p.(=) g.47945595C>T Copied from the Exome Variant Server PKD1L1_000453 2/13004 0/8600 2/4404 - - - - - - -
?/? c.1403-11del r.(=) p.(=) g.47945570del Copied from the Exome Variant Server PKD1L1_000452 17/12518 1/8254 16/4264 - - - - - - -
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