All transcript variants in gene PKD1L1

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

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.7G>A likely benign r.(?) p.(Glu3Lys) g.47988031C>T - - - C7orf69_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.299C>T likely benign r.(?) p.(Thr100Ile) g.47976542G>A - - - C7orf69_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.399-6A>G likely benign r.(=) p.(=) g.47971659T>C - PKD1L1(NM_138295.4):c.399-6A>G - C7orf69_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.519+5G>A VUS r.spl? p.? g.47971528C>T - - - C7orf69_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.731C>T likely benign r.(?) p.(Pro244Leu) g.47970707G>A - PKD1L1(NM_138295.4):c.731C>T (p.P244L) - C7orf69_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.737+5G>A likely benign r.spl? p.? g.47970696C>T - - - C7orf69_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.933T>C VUS r.(?) p.(=) g.47968928A>G - - - C7orf69_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1031C>T likely benign r.(?) p.(Ala344Val) g.47968830G>A - PKD1L1(NM_138295.3):c.1031C>T (p.(Ala344Val)) - C7orf69_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1031C>T likely benign r.(?) p.(Ala344Val) g.47968830G>A - PKD1L1(NM_138295.3):c.1031C>T (p.(Ala344Val)) - C7orf69_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1208T>C benign r.(?) p.(Leu403Pro) g.47955049A>G - - - C7orf69_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1392G>A benign r.(?) p.(=) g.47947684C>T - PKD1L1(NM_138295.4):c.1392G>A (p.V464=) - C7orf69_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1406C>T VUS r.(?) p.(Thr469Ile) g.47945556G>A - PKD1L1(NM_138295.3):c.1406C>T (p.(Thr469Ile)) - C7orf69_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1696C>T likely benign r.(?) p.(Arg566Cys) g.47944210G>A - - - C7orf69_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2220C>T benign r.(?) p.(=) g.47937636G>A - PKD1L1(NM_138295.4):c.2220C>T (p.L740=) - C7orf69_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2276A>T VUS r.(?) p.(Gln759Leu) g.47933652T>A - PKD1L1(NM_138295.3):c.2276A>T (p.(Gln759Leu)) - C7orf69_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2454-18C>G likely benign r.(=) p.(=) g.47930379G>C - - - C7orf69_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2502C>T likely benign r.(?) p.(=) g.47930313G>A - PKD1L1(NM_138295.4):c.2502C>T (p.F834=) - C7orf69_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2675+4C>T likely benign r.spl? p.? g.47930136G>A - PKD1L1(NM_138295.4):c.2675+4C>T - C7orf69_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2675+4C>T benign r.spl? p.? g.47930136G>A - PKD1L1(NM_138295.4):c.2675+4C>T - C7orf69_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2780T>C VUS r.(?) p.(Leu927Pro) g.47927644A>G - - - C7orf69_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2836+8G>T likely benign r.(=) p.(=) g.47927580C>A - PKD1L1(NM_138295.3):c.2836+8G>T (p.(=)) - C7orf69_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2880C>T benign r.(?) p.(=) g.47925609G>A - - - C7orf69_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2881G>A likely benign r.(?) p.(Gly961Ser) g.47925608C>T - - - C7orf69_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2954C>T likely benign r.(?) p.(Thr985Ile) g.47925535G>A - - - C7orf69_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2979A>T likely benign r.(?) p.(=) g.47925510T>A - PKD1L1(NM_138295.4):c.2979A>T (p.S993=) - C7orf69_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2979A>T likely benign r.(?) p.(=) g.47925510T>A - PKD1L1(NM_138295.4):c.2979A>T (p.S993=) - C7orf69_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2982C>T benign r.(?) p.(=) g.47925507G>A - - - C7orf69_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.3004A>C benign r.(?) p.(Thr1002Pro) g.47925485T>G - - - C7orf69_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3157C>T VUS r.(?) p.(Arg1053Cys) g.47925332G>A - PKD1L1(NM_138295.3):c.3157C>T (p.(Arg1053Cys)) - PKD1L1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3228C>T benign r.(?) p.(=) g.47924233G>A - - - C7orf69_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3377T>G likely benign r.(?) p.(Val1126Gly) g.47921572A>C - PKD1L1(NM_138295.3):c.3377T>G (p.(Val1126Gly)) - C7orf69_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.3412C>T likely pathogenic r.(?) p.(Arg1138*) g.47921537G>A - - - C7orf69_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3622G>A likely benign r.(?) p.(Ala1208Thr) g.47917128C>T - PKD1L1(NM_138295.4):c.3622G>A (p.A1208T) - C7orf69_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3624A>G benign r.(?) p.(=) g.47917126T>C - - - C7orf69_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3630C>A likely benign r.(?) p.(=) g.47917120G>T - - - C7orf69_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3687C>T likely benign r.(?) p.(=) g.47915792G>A - - - C7orf69_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3739T>G likely benign r.(?) p.(Tyr1247Asp) g.47915740A>C - - - C7orf69_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3845T>A likely benign r.(?) p.(Val1282Glu) g.47913548A>T - PKD1L1(NM_138295.4):c.3845T>A (p.V1282E) - C7orf69_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3845T>A likely benign r.(?) p.(Val1282Glu) g.47913548A>T - PKD1L1(NM_138295.4):c.3845T>A (p.V1282E) - C7orf69_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3994C>T likely benign r.(?) p.(Arg1332Cys) g.47906115G>A - - - C7orf69_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.4940T>C VUS r.(?) p.(Ile1647Thr) g.47892745A>G - PKD1L1(NM_138295.4):c.4940T>C (p.I1647T) - C7orf69_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5108G>A likely benign r.(?) p.(Arg1703His) g.47886522C>T - PKD1L1(NM_138295.4):c.5108G>A (p.R1703H) - C7orf69_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5167G>A likely benign r.(?) p.(Ala1723Thr) g.47884663C>T - PKD1L1(NM_138295.4):c.5167G>A (p.A1723T) - C7orf69_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5196G>A likely benign r.(?) p.(=) g.47884634C>T - - - C7orf69_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.5212G>A likely benign r.(?) p.(Val1738Met) g.47884618C>T - - - C7orf69_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.5366A>G VUS r.(?) p.(Glu1789Gly) g.47882639T>C - PKD1L1(NM_138295.4):c.5366A>G (p.E1789G) - C7orf69_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5381G>T VUS r.(?) p.(Gly1794Val) g.47882624C>A - PKD1L1(NM_138295.4):c.5381G>T (p.G1794V) - C7orf69_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.5397G>A VUS r.(?) p.(=) g.47882608C>T - - - C7orf69_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.5464G>A VUS r.(?) p.(Gly1822Ser) g.47880147C>T - PKD1L1(NM_138295.3):c.5464G>A (p.(Gly1822Ser)) - C7orf69_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5467G>A likely benign r.(?) p.(Asp1823Asn) g.47880144C>T - PKD1L1(NM_138295.4):c.5467G>A (p.D1823N) - C7orf69_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.5467G>A benign r.(?) p.(Asp1823Asn) g.47880144C>T - PKD1L1(NM_138295.4):c.5467G>A (p.D1823N) - C7orf69_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.5467G>A likely benign r.(?) p.(Asp1823Asn) g.47880144C>T - PKD1L1(NM_138295.4):c.5467G>A (p.D1823N) - C7orf69_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.5663G>A VUS r.(?) p.(Gly1888Glu) g.47879150C>T - - - C7orf69_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.5703C>T likely benign r.(?) p.(=) g.47879110G>A - - - C7orf69_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.5728C>T likely benign r.(?) p.(Arg1910Trp) g.47879085G>A - PKD1L1(NM_138295.4):c.5728C>T (p.R1910W) - C7orf69_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.5728C>T likely benign r.(?) p.(Arg1910Trp) g.47879085G>A - PKD1L1(NM_138295.4):c.5728C>T (p.R1910W) - C7orf69_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5792_5793delinsCAT VUS r.(?) p.(Glu1931Alafs*103) g.47876669_47876670delinsATG - - - C7orf69_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.5822C>T VUS r.(?) p.(Ser1941Leu) g.47876640G>A - PKD1L1(NM_138295.3):c.5822C>T (p.(Ser1941Leu)) - C7orf69_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5955C>T likely benign r.(?) p.(=) g.47874830G>A - - - C7orf69_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.6113C>G likely benign r.(?) p.(Thr2038Ser) g.47874579G>C - - - C7orf69_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.6225G>A likely benign r.(?) p.(=) g.47872800C>T - - - C7orf69_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.6337+1G>A VUS r.spl? p.? g.47872687C>T - - - C7orf69_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.6736-3C>T likely benign r.spl? p.? g.47867069G>A - PKD1L1(NM_138295.4):c.6736-3C>T - C7orf69_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.6736-3C>T likely benign r.spl? p.? g.47867069G>A - PKD1L1(NM_138295.4):c.6736-3C>T - C7orf69_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.6762C>G likely benign r.(?) p.(=) g.47867040G>C - - - C7orf69_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.6949C>T likely benign r.(?) p.(Arg2317Trp) g.47860690G>A - PKD1L1(NM_138295.3):c.6949C>T (p.(Arg2317Trp)) - C7orf69_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.6949C>T benign r.(?) p.(Arg2317Trp) g.47860690G>A - PKD1L1(NM_138295.3):c.6949C>T (p.(Arg2317Trp)) - C7orf69_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.7072C>T benign r.(?) p.(Arg2358Cys) g.47854949G>A - PKD1L1(NM_138295.4):c.7072C>T (p.R2358C) - C7orf69_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.7080G>A benign r.(?) p.(=) g.47854941C>T - PKD1L1(NM_138295.4):c.7080G>A (p.P2360=) - C7orf69_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.7124G>A VUS r.(?) p.(Gly2375Asp) g.47853578C>T - PKD1L1(NM_138295.4):c.7124G>A (p.G2375D) - C7orf69_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.7135A>G VUS r.(?) p.(Ile2379Val) g.47853567T>C - - - C7orf69_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.7721C>A VUS r.(?) p.(Ala2574Glu) g.47847951G>T - PKD1L1(NM_138295.4):c.7721C>A (p.A2574E) - C7orf69_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.7787G>T likely benign r.(?) p.(Arg2596Leu) g.47847885C>A - - - C7orf69_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.7795A>G likely benign r.(?) p.(Met2599Val) g.47847877T>C - PKD1L1(NM_138295.4):c.7795A>G (p.M2599V) - C7orf69_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.7806C>G likely benign r.(?) p.(=) g.47847866G>C - PKD1L1(NM_138295.4):c.7806C>G (p.T2602=) - C7orf69_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.7827+6C>T likely benign r.(=) p.(=) g.47847839G>A - PKD1L1(NM_138295.3):c.7827+6C>T (p.(=)) - C7orf69_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.7987G>A likely benign r.(?) p.(Ala2663Thr) g.47840453C>T - PKD1L1(NM_138295.3):c.7987G>A (p.(Ala2663Thr)) - C7orf69_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.8104C>T likely benign r.(?) p.(Leu2702Phe) g.47840336G>A - - - C7orf69_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.8132G>A likely benign r.(?) p.(Arg2711Gln) g.47840308C>T - - - C7orf69_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.8133G>T likely benign r.(?) p.(=) g.47840307C>A - - - C7orf69_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.8135C>T VUS r.(?) p.(Ala2712Val) g.47840305G>A - C7orf69(NM_025031.2):c.108+5264G>A (p.(=)) - C7orf69_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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