Full data view for gene NTHL1

Information The variants shown are described using the NM_002528.5 transcript reference sequence.

1530 entries on 16 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-45802G>A r.(?) p.(=) Unknown - likely benign g.2143650C>T - PKD1(NM_001009944.2):c.10911G>A (p.T3637=) - NTHL1_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45793C>T r.(?) p.(=) Unknown - VUS g.2143641G>A - PKD1(NM_000296.3):c.10917C>T (p.(Ser3639=)) - NTHL1_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45793C>T r.(?) p.(=) Unknown - VUS g.2143641G>A - PKD1(NM_000296.3):c.10917C>T (p.(Ser3639=)) - NTHL1_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45788G>C r.(?) p.(=) Unknown - VUS g.2143636C>G - PKD1(NM_001009944.2):c.10925G>C (p.R3642P) - NTHL1_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45774C>T r.(?) p.(=) Unknown - likely benign g.2143622G>A g.2093621G>A PKD1(NM_000296.3):c.10936C>T (p.(Arg3646Trp)), PKD1(NM_001009944.2):c.10939C>T (p.R3647W) - PKD1_002875 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45774C>T r.(?) p.(=) Unknown - VUS g.2143622G>A - PKD1(NM_000296.3):c.10936C>T (p.(Arg3646Trp)), PKD1(NM_001009944.2):c.10939C>T (p.R3647W) - PKD1_002875 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45773G>A r.(?) p.(=) Unknown - VUS g.2143621C>T g.2093620C>T PKD1(NM_001009944.2):c.10940G>A (p.R3647Q) - PKD1_002876 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45763C>T r.(?) p.(=) Unknown - likely benign g.2143611G>A - PKD1(NM_000296.3):c.10947C>T (p.(His3649=)) - NTHL1_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-45761G>A r.(?) p.(=) Unknown - likely pathogenic g.2143609C>T - PKD1(NM_001009944.2):c.10952G>A (p.G3651D) - PKD1_001492 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-45755C>T r.(?) p.(=) Unknown - likely pathogenic g.2143603G>A - PKD1(NM_001009944.2):c.10958C>T (p.A3653V) - PKD1_001490 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-45749T>A r.(?) p.(=) Unknown - likely pathogenic g.2143597A>T - PKD1(NM_001009944.2):c.10964T>A (p.(Phe3655Tyr)) - NTHL1_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-45748C>A r.(?) p.(=) Unknown - likely pathogenic g.2143596G>T - PKD1(NM_000296.3):c.10962C>A (p.(Phe3654Leu)) - NTHL1_000364 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45743C>T r.(?) p.(=) Unknown - VUS g.2143591G>A - PKD1(NM_001009944.2):c.10970C>T (p.(Ala3657Val)) - NTHL1_000343 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45741A>G r.(?) p.(=) Unknown - VUS g.2143589T>C - PKD1(NM_001009944.2):c.10972A>G (p.(Lys3658Glu)) - NTHL1_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45733A>G r.(?) p.(=) Unknown - likely benign g.2143581T>C - PKD1(NM_000296.3):c.10977A>G (p.(Glu3659=)) - NTHL1_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45729C>T r.(?) p.(=) Unknown - VUS g.2143577G>A g.2093576G>A PKD1(NM_001009944.2):c.10984C>T (p.R3662C) - PKD1_002877 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45699C>T r.(?) p.(=) Unknown - VUS g.2143547G>A g.2093546G>A PKD1(NM_001009944.2):c.11014C>T (p.R3672W) - PKD1_002878 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45698G>A r.(?) p.(=) Unknown - VUS g.2143546C>T - LOC105371049(NR_135175.1):n.303+533C>T, PKD1(NM_000296.3):c.11012G>A (p.(Arg3671Gln)), PKD1(NM_001009944.2):c.11015G>A (p.R3672Q) - PKD1_000594 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45698G>A r.(?) p.(=) Unknown - likely benign g.2143546C>T - LOC105371049(NR_135175.1):n.303+533C>T, PKD1(NM_000296.3):c.11012G>A (p.(Arg3671Gln)), PKD1(NM_001009944.2):c.11015G>A (p.R3672Q) - PKD1_000594 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45698G>A r.(?) p.(=) Unknown - likely benign g.2143546C>T - LOC105371049(NR_135175.1):n.303+533C>T, PKD1(NM_000296.3):c.11012G>A (p.(Arg3671Gln)), PKD1(NM_001009944.2):c.11015G>A (p.R3672Q) - PKD1_000594 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45683C>T r.(?) p.(=) Unknown - likely benign g.2143531G>A - PKD1(NM_000296.3):c.11013+14C>T (p.(=)) - NTHL1_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-45256C>A r.(?) p.(=) Unknown - pathogenic g.2143104G>T - PKD1(NM_001009944.2):c.11017-10C>A - PKD1_001475 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45251A>G r.(?) p.(=) Unknown - likely benign g.2143099T>C - PKD1(NM_001009944.2):c.11017-5A>G - PKD1_002879 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45249C>T r.(?) p.(=) Unknown - likely benign g.2143097G>A g.2093096G>A PKD1(NM_000296.3):c.11014-3C>T (p.?), PKD1(NM_001009944.2):c.11017-3C>T - NTHL1_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45249C>T r.(?) p.(=) Unknown - likely benign g.2143097G>A - PKD1(NM_000296.3):c.11014-3C>T (p.?), PKD1(NM_001009944.2):c.11017-3C>T - PKD1_002880 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45249C>T r.(?) p.(=) Unknown - VUS g.2143097G>A - PKD1(NM_000296.3):c.11014-3C>T (p.?), PKD1(NM_001009944.2):c.11017-3C>T - PKD1_002880 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-45224_-45223del r.(?) p.(=) Unknown - pathogenic g.2143074_2143075del - PKD1(NM_001009944.2):c.11039_11040del (p.(Phe3680SerfsTer41)) - NTHL1_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-45197dup r.(?) p.(=) Unknown - pathogenic g.2143045dup - PKD1(NM_001009944.2):c.11066dup (p.(Tyr3689*)) - NTHL1_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45136G>A r.(?) p.(=) Unknown - likely benign g.2142984C>T - PKD1(NM_001009944.2):c.11127G>A (p.(Leu3709=)) - NTHL1_000404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45108C>T r.(?) p.(=) Unknown - VUS g.2142956G>A - PKD1(NM_001009944.2):c.11155C>T (p.R3719W), PKD1(NM_001009944.3):c.11155C>T (p.R3719W) - NTHL1_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-45108C>T r.(?) p.(=) Unknown - VUS g.2142956G>A - PKD1(NM_001009944.2):c.11155C>T (p.R3719W), PKD1(NM_001009944.3):c.11155C>T (p.R3719W) - NTHL1_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-45107G>A r.(?) p.(=) Unknown - pathogenic g.2142955C>T - - - PKD1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-45107G>T r.(?) p.(=) Unknown - likely pathogenic g.2142955C>A - PKD1(NM_001009944.2):c.11156G>T (p.(Arg3719Leu)) - NTHL1_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-45106G>T r.(?) p.(=) Unknown - pathogenic g.2142954C>A - PKD1(NM_001009944.2):c.11156+1G>T (p.?) - PKD1_001458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-45106G>T r.(?) p.(=) Unknown - likely pathogenic g.2142954C>A - PKD1(NM_001009944.2):c.11156+1G>T (p.?) - PKD1_001458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45094G>A r.(?) p.(=) Unknown - benign g.2142942C>T - PKD1(NM_000296.3):c.11153+13G>A (p.(=)) - PKD1_001455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45094G>A r.(?) p.(=) Unknown - benign g.2142942C>T - PKD1(NM_000296.3):c.11153+13G>A (p.(=)) - PKD1_001455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44714G>A r.(?) p.(=) Unknown - VUS g.2142562C>T - PKD1(NM_001009944.2):c.11188G>A (p.(Val3730Met)) - NTHL1_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44653G>A r.(?) p.(=) Unknown - VUS g.2142501C>T g.2092500C>T PKD1(NM_000296.3):c.11246G>A (p.(Arg3749Gln)) - PKD1_000466 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-44653G>A r.(?) p.(=) Unknown - likely pathogenic g.2142501C>T - PKD1(NM_000296.3):c.11246G>A (p.(Arg3749Gln)) - PKD1_000466 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-44645C>T r.(?) p.(=) Unknown - pathogenic g.2142493G>A - PKD1(NM_001009944.2):c.11257C>T (p.(Arg3753Trp)) - PKD1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-44645C>T r.(?) p.(=) Unknown - likely pathogenic g.2142493G>A - PKD1(NM_001009944.2):c.11257C>T (p.(Arg3753Trp)) - PKD1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-44644G>A r.(?) p.(=) Unknown - likely pathogenic g.2142492C>T - - - PKD1_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44640G>C r.(?) p.(=) Unknown - benign g.2142488C>G - PKD1(NM_000296.3):c.11259G>C (p.(Leu3753=)), PKD1(NM_001009944.2):c.11262G>C (p.L3754=) - PKD1_001438 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44640G>C r.(?) p.(=) Unknown - likely benign g.2142488C>G - PKD1(NM_000296.3):c.11259G>C (p.(Leu3753=)), PKD1(NM_001009944.2):c.11262G>C (p.L3754=) - PKD1_001438 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-44639C>T r.(?) p.(=) Unknown - pathogenic g.2142487G>A - PKD1(NM_001009944.2):c.11263C>T (p.(Gln3755Ter)) - NTHL1_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44633G>C r.(?) p.(=) Unknown - VUS g.2142481C>G - PKD1(NM_001009944.2):c.11269G>C (p.(Ala3757Pro)) - NTHL1_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-44297del r.(?) p.(=) Unknown - pathogenic g.2142146del g.2092145del - - PKD1_002881 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44295C>G r.(?) p.(=) Unknown - likely benign g.2142143G>C - PKD1(NM_000296.3):c.11313C>G (p.(Ala3771=)), PKD1(NM_001009944.2):c.11316C>G (p.A3772=) - NTHL1_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44295C>G r.(?) p.(=) Unknown - benign g.2142143G>C - PKD1(NM_000296.3):c.11313C>G (p.(Ala3771=)), PKD1(NM_001009944.2):c.11316C>G (p.A3772=) - NTHL1_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44274C>G r.(?) p.(=) Unknown - likely benign g.2142122G>C - PKD1(NM_001009944.2):c.11337C>G (p.S3779R) - PKD1_001423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-44269_-44262del r.(?) p.(=) Unknown - pathogenic g.2142112_2142119del - - - PKD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-44268C>A r.(?) p.(=) Unknown - pathogenic g.2142116G>T - PKD1(NM_000296.3):c.11340C>A (p.(Tyr3780*)) - PKD1_000587 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44265C>T r.(?) p.(=) Unknown - benign g.2142113G>A g.2092112G>A PKD1(NM_000296.3):c.11343C>T (p.(Asp3781=)), PKD1(NM_000296.4):c.11343C>T (p.D3781=) - PKD1_000815 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44265C>T r.(?) p.(=) Unknown - likely benign g.2142113G>A g.2092112G>A PKD1(NM_000296.3):c.11343C>T (p.(Asp3781=)), PKD1(NM_000296.4):c.11343C>T (p.D3781=) - PKD1_000815 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44264G>C r.(?) p.(=) Unknown - VUS g.2142112C>G - PKD1(NM_001009944.2):c.11347G>C (p.(Val3783Leu)) - NTHL1_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44257G>T r.(?) p.(=) Unknown - VUS g.2142105C>A - PKD1(NM_001009944.2):c.11354G>T (p.(Trp3785Leu)) - PKD1_000585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-44257G>T r.(?) p.(=) Unknown - pathogenic g.2142105C>A - PKD1(NM_001009944.2):c.11354G>T (p.(Trp3785Leu)) - PKD1_000585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44255G>C r.(?) p.(=) Unknown - likely benign g.2142103C>G g.2092102C>G PKD1(NM_000296.3):c.11353G>C (p.(Glu3785Gln)), PKD1(NM_001009944.2):c.11356G>C (p.E3786Q) - PKD1_002882 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44255G>C r.(?) p.(=) Unknown - likely benign g.2142103C>G - PKD1(NM_000296.3):c.11353G>C (p.(Glu3785Gln)), PKD1(NM_001009944.2):c.11356G>C (p.E3786Q) - PKD1_002853 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44255G>C r.(?) p.(=) Unknown - likely benign g.2142103C>G - PKD1(NM_000296.3):c.11353G>C (p.(Glu3785Gln)), PKD1(NM_001009944.2):c.11356G>C (p.E3786Q) - PKD1_002853 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44235G>C r.(?) p.(=) Unknown - likely benign g.2142083C>G g.2092082C>G PKD1(NM_001009944.2):c.11376G>C (p.S3792=) - PKD1_002883 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44235G>C r.(?) p.(=) Unknown - benign g.2142083C>G - PKD1(NM_001009944.2):c.11376G>C (p.S3792=) - PKD1_002883 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44223C>G r.(?) p.(=) Unknown - likely benign g.2142071G>C - PKD1(NM_001009944.2):c.11388C>G (p.A3796=) - PKD1_000584 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44182C>T r.(?) p.(=) Unknown - likely benign g.2142030G>A - PKD1(NM_001009944.2):c.11411+18C>T - PKD1_001407 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44079A>T r.(?) p.(=) Unknown - likely benign g.2141927T>A - - - PKD1_002884 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44065C>T r.(?) p.(=) Unknown - likely benign g.2141913G>A g.2091912G>A PKD1(NM_000296.3):c.11409-6C>T (p.(=)), PKD1(NM_001009944.2):c.11412-6C>T - NTHL1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44065C>T r.(?) p.(=) Unknown - likely benign g.2141913G>A - PKD1(NM_000296.3):c.11409-6C>T (p.(=)), PKD1(NM_001009944.2):c.11412-6C>T - PKD1_002885 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-44022G>C r.(?) p.(=) Unknown - VUS g.2141870C>G - PKD1(NM_001009944.2):c.11449G>C (p.G3817R) - NTHL1_000400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-44018del r.(?) p.(=) Unknown - pathogenic g.2141870del - PKD1(NM_001009944.2):c.11453delG (p.G3818Afs*8) - NTHL1_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-44018dup r.(?) p.(=) Unknown - pathogenic g.2141870dup - PKD1(NM_000296.3):c.11450dup (p.(Tyr3818LeufsTer142)), PKD1(NM_001009944.2):c.11453dupG (p.Y3819Lfs*142) - PKD1_001396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-44018dup r.(?) p.(=) Unknown - pathogenic g.2141870dup - PKD1(NM_000296.3):c.11450dup (p.(Tyr3818LeufsTer142)), PKD1(NM_001009944.2):c.11453dupG (p.Y3819Lfs*142) - PKD1_001396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44005G>T r.(?) p.(=) Unknown - likely benign g.2141853C>A - PKD1(NM_001009944.2):c.11466G>T (p.E3822D) - NTHL1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43998C>T r.(?) p.(=) Unknown - likely benign g.2141846G>A - PKD1(NM_000296.3):c.11470C>T (p.(Leu3824=)) - PKD1_001393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-43959C>T r.(?) p.(=) Unknown - pathogenic g.2141807G>A - PKD1(NM_001009944.2):c.11512C>T (p.(Gln3838Ter)) - PKD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-43948C>T r.(?) p.(=) Unknown - benign g.2141796G>A - PKD1(NM_000296.3):c.11520C>T (p.(Asn3840=)), PKD1(NM_001009944.2):c.11523C>T (p.N3841=) - PKD1_001387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43948C>T r.(?) p.(=) Unknown - likely benign g.2141796G>A - PKD1(NM_000296.3):c.11520C>T (p.(Asn3840=)), PKD1(NM_001009944.2):c.11523C>T (p.N3841=) - PKD1_001387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-43940_-43937del r.(?) p.(=) Unknown - pathogenic g.2141785_2141788del - PKD1(NM_001009944.2):c.11531_11534del (p.(Asp3844Alafs*100)) - NTHL1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-43933del r.(?) p.(=) Unknown - pathogenic g.2141782del - PKD1(NM_001009944.2):c.11537+1del (p.?) - NTHL1_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-43931_-43929dup r.(?) p.(=) Unknown - benign g.2141777_2141779dup g.2091776_2091778dup PKD1(NM_000296.3):c.11534+3_11534+5dup (p.?), PKD1(NM_001009944.2):c.11537+5_11537+6insGGG - PKD1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43931_-43929dup r.(?) p.(=) Unknown - likely benign g.2141777_2141779dup g.2091776_2091778dup PKD1(NM_000296.3):c.11534+3_11534+5dup (p.?), PKD1(NM_001009944.2):c.11537+5_11537+6insGGG - PKD1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43761C>T r.(?) p.(=) Unknown - likely benign g.2141609G>A g.2091608G>A PKD1(NM_000296.3):c.11535-11C>T (p.(=)), PKD1(NM_001009944.2):c.11538-11C>T - PKD1_002886 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43761C>T r.(?) p.(=) Unknown - likely benign g.2141609G>A - PKD1(NM_000296.3):c.11535-11C>T (p.(=)), PKD1(NM_001009944.2):c.11538-11C>T - PKD1_002850 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-43734del r.(?) p.(=) Unknown - pathogenic g.2141583del g.2091582del PKD1(NM_001009944.2):c.11554delC (p.L3852Wfs*93) - PKD1_000767 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-43725_-43724del r.(?) p.(=) Unknown - pathogenic g.2141573_2141574del - PKD1(NM_000296.3):c.11560_11561del (p.(Thr3854AlafsTer105)) - NTHL1_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43711G>T r.(?) p.(=) Unknown - likely benign g.2141559C>A - PKD1(NM_000296.3):c.11574G>T (p.(Pro3858=)), PKD1(NM_001009944.2):c.11577G>T (p.P3859=) - NTHL1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-43711G>T r.(?) p.(=) Unknown - benign g.2141559C>A - PKD1(NM_000296.3):c.11574G>T (p.(Pro3858=)), PKD1(NM_001009944.2):c.11577G>T (p.P3859=) - NTHL1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43699G>A r.(?) p.(=) Unknown - likely benign g.2141547C>T - PKD1(NM_001009944.2):c.11589G>A (p.L3863=) - PKD1_002887 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43699G>A r.(?) p.(=) Unknown - likely benign g.2141547C>T - PKD1(NM_001009944.2):c.11589G>A (p.L3863=) - PKD1_002887 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43684G>T r.(?) p.(=) Unknown - likely benign g.2141532C>A - PKD1(NM_001009944.2):c.11604G>T (p.(=)) - NTHL1_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43672G>A r.(?) p.(=) Unknown - likely benign g.2141520C>T - PKD1(NM_001009944.2):c.11616G>A (p.E3872=) - PKD1_001370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43661C>T r.(?) p.(=) Unknown - likely benign g.2141509G>A - PKD1(NM_000296.3):c.11624C>T (p.(Ala3875Val)) - PKD1_001369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-43649T>C r.(?) p.(=) Unknown - likely pathogenic g.2141497A>G - PKD1(NM_001009944.2):c.11639T>C (p.(Leu3880Pro)) - NTHL1_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43636C>T r.(?) p.(=) Unknown - likely benign g.2141484G>A - PKD1(NM_000296.3):c.11649C>T (p.(Ser3883=)) - PKD1_001365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43613G>A r.(?) p.(=) Unknown - likely benign g.2141461C>T g.2091460C>T PKD1(NM_000296.3):c.11672G>A (p.(Arg3891His)) - PKD1_002888 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-43613G>A r.(?) p.(=) Unknown - VUS g.2141461C>T g.2091460C>T PKD1(NM_000296.3):c.11672G>A (p.(Arg3891His)) - PKD1_002888 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-43606C>T r.(?) p.(=) Unknown - benign g.2141454G>A g.2091453G>A PKD1(NM_000296.3):c.11679C>T (p.(Ser3893=)) - PKD1_000766 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-43606C>T r.(?) p.(=) Unknown - benign g.2141454G>A - PKD1(NM_000296.3):c.11679C>T (p.(Ser3893=)) - PKD1_000766 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43600C>T r.(?) p.(=) Unknown - likely benign g.2141448G>A - PKD1(NM_001009944.2):c.11688C>T (p.G3896=) - NTHL1_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43597C>T r.(?) p.(=) Unknown - likely benign g.2141445G>A - - - NTHL1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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