Transcript #00023950 (NM_001009944.2, PKD1 gene)

Transcript name transcript variant 1
Gene name PKD1 (polycystic kidney disease 1 (autosomal dominant))
Chromosome 16
Transcript - NCBI ID NM_001009944.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001009944.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

4766 entries on 48 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/Grantham     

Predict/AGVGD     

Predict/PolyPhen     

Predict/SIFT     

Predict/MutationTaster     
-?/. 1 c.-117G>T r.(?) p.(=) - - - - -
-?/. 1 c.-108C>T r.(?) p.(=) - - - - -
-?/. 1 c.-76G>C r.(?) p.(=) - - - - -
-?/. 1 c.-67C>T r.(?) p.(=) - - - - -
-?/. 1 c.-61T>C r.(?) p.(=) - - - - -
-?/. 1 c.-52C>T r.(?) p.(=) - - - - -
-?/. 1 c.-2C>T r.(?) p.(Met1dup) - - - - -
+/. _1_1i c.(?_-1)_(215+1_216-1)del r.0? p.0? - - - - -
+/. _1_1i c.(?_-1)_(215+1_216-1)del r.0? p.0? - - - - -
+/. 1_15i c.(?_-1)_(6915+1_6916-1)del r.0? p.0? - - - - -
+/. 1_21i c.(?_-1)_(8016+1_8017-1)del r.0? p.0? - - - - -
+/. _1_39i c.(?_-1)_(11269+1_11270-1)del r.0? p.0? - - - - -
+/. - c.3887_*1017{0} r.? p.? - - - - -
+/. - c.3887_*1017{0} r.? p.? - - - - -
-?/. 5 c.603C>R r.(?) p.(His201Gln) - - - - -
+?/. 27i_32i c.? r.? p.? - - - - -
+?/. 23 c.[8235T>G;8279T>C;8282G>C;8287G>C;8291T>C] r.(?) p.[(Met2760Thr);(Arg2761Pro);(Leu2763Val);(Met2764Thr)] - - - - -
-?/. 23 c.[8235T>G;8279T>C;8282G>C;8291T>C;8477T>C] r.(?) p.[(Met2760Thr);(Arg2761Pro);(Met2764Thr);(Ile2826Thr)] - - - - -
?/. 1 c.8C>G r.(?) p.(Pro3Arg) - - - - -
+/. 1 c.13_25del r.(?) p.(Ala5Trpfs*64) - - - - -
+/. 1 c.13_25del r.(?) p.(Ala5Trpfs*64) - - - - -
+/. 1 c.24_27del r.(?) p.(Leu9Argfs*63) - - - - -
+/. 1 c.29_46del r.(?) p.(Ala10_Leu15del) - - - - -
+?/. 1 c.38T>A r.(?) p.(Leu13Gln) - - - - -
+?/. 1 c.38T>A r.(?) p.(Leu13Gln) - - - - -
+?/. 1 c.46_51del r.(?) p.(Gly16_Leu17del) - - - - -
+/. 1 c.63_75del r.(?) p.(Leu22Profs*47) - - - - -
+/. 1 c.74del r.(?) p.(Gly25Alafs*48) - - - - -
?/. 1 c.74G>T r.(?) p.(Gly25Val) - - - - -
+/. 1 c.74_75delinsA r.(?) p.(Gly25Aspfs*48) - - - - -
-?/. 1 c.82C>T r.(?) p.(Arg28Cys) - - - - -
?/? 1 c.96C>T r.(=) p.(=) - - - - -
+?/. 1 c.97_105del r.(?) p.(Cys33_Pro35del) - - - - -
+/. 1 c.99del r.(?) p.(Cys33Trpfs*40) - - - - -
+/. 1 c.102_103del r.(?) p.(Glu34Aspfs*79) - - - - -
-?/. 1 c.107C>A r.(?) p.(Pro36His) - - - - -
-?/. - c.107C>A r.(?) p.(Pro36His) - - - - -
+/. 1 c.107_108dup r.(?) p.(Cys37Profs*37) - - - - -
+/. 1 c.108dup r.(?) p.(Cys37Leufs*77) - - - - -
+/. 1 c.109del r.(?) p.(Cys37Alafs*36) - - - - -
+/. 1 c.111C>A r.(?) p.(Cys37*) - - - - -
-?/. 1 c.114C>T r.(?) p.(=) - - - - -
?/? 1 c.122C>T r.(?) p.(Pro41Leu) - - - - -
?/? 1 c.129C>T r.(=) p.(=) - - - - -
-?/. 1 c.138C>T r.(?) p.(=) - - - - -
+?/. 1 c.140G>C r.(?) p.(Cys47Ser) - - - - -
-?/. 1 c.144C>G r.(?) p.(=) - - - - -
-?/. 1 c.147C>T r.(?) p.(=) - - - - -
+?/. 1 c.152G>C r.(?) p.(Cys51Ser) - - - - -
+?/. 1 c.153C>G r.(?) p.(Cys51Trp) - - - - -
+/. 1 c.153del r.(?) p.(Ser52Argfs*21) - - - - -
+?/. 1 c.155C>T r.(?) p.(Ser52Leu) - - - - -
+/. 1 c.158_179del r.(?) p.(Gly53Valfs*13) - - - - -
+/+ 1 c.160_166dup r.(?) p.(Leu56Profs*60) - - - - -
+/. 1 c.165_171del r.(?) p.(Leu56Argfs*15) - - - - -
-?/. 1 c.169C>T r.(?) p.(Arg57Trp) - - - - -
-?/. 1 c.182C>T r.(?) p.(Pro61Leu) - - - - -
?/? 1 c.182C>T r.(?) p.(Pro61Leu) - - - - -
?/. - c.182C>T r.(?) p.(Pro61Leu) - - - - -
?/. 1 c.194T>A r.(?) p.(Ile65Asn) 194 C0 benign damaging polymorphism
?/. 1 c.194T>A r.(?) p.(Ile65Asn) 194 C0 benign damaging polymorphism
-?/. 1 c.214C>T r.(?) p.(=) - - - - -
+?/. 1 c.215T>A r.(?) p.(Leu72Gln) - - - - -
-?/. 1i c.215+27G>A r.(?) p.(?) - - - - -
+/. 1i_5 c.216-1725_788del r.spl p.? - - - - -
-?/. 1i c.216-79C>T r.(?) p.(=) - - - - -
-?/. 1i c.216-49C>T r.(?) p.(?) - - - - -
+/. 1i c.216-1G>C r.spl p.? - - - - -
+/. 1i_18 c.(215+1_216-1)_(7489+1_7490-1)del r.? p.(Asp73Leufs*3) - - - - -
+?/. - c.223T>C r.(?) p.(Ser75Pro) - - - - -
+?/. 2 c.224C>T r.(?) p.(Ser75Phe) - - - - -
+/. - c.224C>T r.(?) p.(Ser75Phe) - - - - -
+?/. 2 c.224C>T r.(?) p.(Ser75Phe) 155 C65 benign damaging disease causing
+?/. 2 c.230A>G r.(?) p.(Asn77Ser) - - - - -
+?/. 2 c.236T>C r.(?) p.(Leu79Pro) - - - - -
?/. 2 c.238C>T r.(?) p.(Arg80Trp) - - - - -
?/. - c.238C>T r.(?) p.(Arg80Trp) - - - - -
-?/. - c.238C>T r.(?) p.(Arg80Trp) - - - - -
-?/. 2 c.239G>A r.(?) p.(Arg80Gln) - - - - -
?/. 2 c.259C>A r.(?) p.(Leu87Met) - - - - -
-?/. 2 c.263C>T r.(?) p.(Ala88Val) - - - - -
?/. 2 c.266A>C r.(?) p.(Asn89Thr) - - - - -
?/. 2 c.268C>T r.(?) p.(Leu90Phe) 22 C0 benign damaging polymorphism
+/. 2 c.271_272del r.(?) p.(Ser91Glyfs*22) - - - - -
+/. 2 c.272C>A r.(?) p.(Ser91*) - - - - -
?/. - c.272C>T r.(?) p.(Ser91Leu) - - - - -
-?/. 2 c.274G>A r.(?) p.(Ala92Thr) - - - - -
-?/. 2 c.276G>A r.(?) p.(=) - - - - -
-?/. - c.276G>A r.(?) p.(Ala92=) - - - - -
+?/. 2 c.287T>C r.(?) p.(Leu96Pro) - - - - -
+?/. 2i c.287+4A>C r.spl? p.? - - - - -
-?/. 2i c.288-32A>G r.(?) p.(=) - - - - -
-?/. 2i c.288-21C>T r.(?) p.(=) - - - - -
-?/. 2i c.288-11G>C r.(?) p.(=) - - - - -
-?/. 2i c.288-3C>T r.spl? p.(=) - - - - -
+/. 2i c.288-2A>G r.spl p.? - - - - -
-?/. 3 c.288G>A r.(?) p.(=) - - - - -
-?/. - c.288G>A r.(?) p.(Leu96=) - - - - -
+?/. 3 c.290A>G r.(?) p.(Asp97Gly) - - - - -
+?/. 3 c.296G>T r.(?) p.(Ser99Ile) - - - - -
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