Full data view for gene TAF1C

Information The variants shown are described using the NM_005679.3 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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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.-4575_-4554del r.(?) p.(=) Unknown - VUS g.84224988_84225009del - ADAD2(NM_001145400.2):c.152_173del (p.(Thr51Serfs*7)) - ADAD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4551_-4532del r.(?) p.(=) Unknown - VUS g.84224967_84224986del - ADAD2(NM_001145400.2):c.131_150del (p.(Gly44Aspfs*113)) - ADAD2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.113C>T r.(?) p.(Pro38Leu) Unknown - VUS g.84218482G>A - TAF1C(NM_001243156.1):c.113C>T (p.(Pro38Leu)) - DNAAF1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514C>T r.(?) p.(Arg172Cys) Unknown - VUS g.84216015G>A - TAF1C(NM_001243156.1):c.514C>T (p.(Arg172Cys)), TAF1C(NM_005679.4):c.514C>T (p.R172C) - DNAAF1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514C>T r.(?) p.(Arg172Cys) Unknown - VUS g.84216015G>A - TAF1C(NM_001243156.1):c.514C>T (p.(Arg172Cys)), TAF1C(NM_005679.4):c.514C>T (p.R172C) - DNAAF1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.640G>A r.(?) p.(Gly214Ser) Unknown - VUS g.84215889C>T - TAF1C(NM_001243156.2):c.640G>A (p.(Gly214Ser)) - DNAAF1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.644C>T r.(?) p.(Ala215Val) Unknown - VUS g.84215885G>A - TAF1C(NM_001243156.2):c.644C>T (p.(Ala215Val)) - DNAAF1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.911C>T r.(?) p.(Ser304Phe) Unknown - VUS g.84215475G>A - TAF1C(NM_005679.4):c.911C>T (p.S304F) - DNAAF1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.947G>C r.(?) p.(Cys316Ser) Unknown - VUS g.84215439C>G - TAF1C(NM_005679.4):c.947G>C (p.C316S) - DNAAF1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1213C>G r.(?) p.(Arg405Gly) Unknown - VUS g.84214963G>C g.84181357G>C TAF1C(NM_005679.3):c.1213C>G (p.R405G) - DNAAF1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1250C>T r.(?) p.(Pro417Leu) Unknown - VUS g.84214785G>A g.84181179G>A TAF1C(NM_005679.3):c.1250C>T (p.P417L) - DNAAF1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1269T>C r.(?) p.(Leu423=) Unknown - VUS g.84214766A>G g.84181160A>G TAF1C(NM_001243156.1):c.1191T>C (p.(=)) - TAF1C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1387-2A>G r.spl? p.? Unknown - VUS g.84213952T>C - TAF1C(NM_001243156.1):c.1309-2A>G (p.?) - DNAAF1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1492C>T r.(?) p.(Arg498Trp) Unknown - VUS g.84213845G>A g.84180239G>A TAF1C(NM_005679.3):c.1492C>T (p.R498W) - DNAAF1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1492C>T r.(?) p.(Arg498Trp) Both (homozygous) - likely pathogenic (recessive) g.84213845G>A g.84180239G>A - - DNAAF1_000036 - - - - Germline yes - - - - DNA SEQ-NG-I - - neuropathy TF108_1 - - F yes Jordan - - - - - 1 Tawfiq Froukh
?/. - c.1600dup r.(?) p.(Gln534Profs*19) Unknown - VUS g.84213658dup - TAF1C(NM_001243156.1):c.1522dupC (p.(Gln508fs)) - DNAAF1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1799G>A r.(?) p.(Arg600His) Unknown - likely benign g.84213358C>T g.84179752C>T TAF1C(NM_005679.3):c.1799G>A (p.R600H) - DNAAF1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1841C>T r.(?) p.(Pro614Leu) Unknown - likely benign g.84213316G>A g.84179710G>A TAF1C(NM_005679.3):c.1841C>T (p.P614L) - DNAAF1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1908_1920del r.(?) p.(Cys636Ter) Unknown - VUS g.84213242_84213254del g.84179636_84179648del TAF1C(NM_001243156.1):c.1830_1842del (p.?) - TAF1C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2282C>T r.(?) p.(Ser761Leu) Unknown - likely benign g.84212875G>A - TAF1C(NM_005679.4):c.2282C>T (p.S761L) - DNAAF1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1064G>A r.(=) p.(=) Unknown - benign g.84211483C>T - DNAAF1(NM_178452.6):c.*36C>T, TAF1C(NM_005679.4):c.*1064G>A - DNAAF1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1082A>G r.(=) p.(=) Unknown - benign g.84211465T>C g.84177859T>C DNAAF1(NM_178452.5):c.*18T>C - DNAAF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1140G>A r.(=) p.(=) Unknown - VUS g.84211407C>T g.84177801C>T DNAAF1(NM_178452.6):c.2138C>T (p.T713M) - DNAAF1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1144G>C r.(=) p.(=) Unknown - benign g.84211403C>G g.84177797C>G DNAAF1(NM_178452.5):c.2134C>G (p.P712A) - DNAAF1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1148A>G r.(=) p.(=) Unknown - likely benign g.84211399T>C - DNAAF1(NM_178452.5):c.2130T>C (p.A710=) - DNAAF1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1169T>C r.(=) p.(=) Unknown - benign g.84211378A>G g.84177772A>G DNAAF1(NM_178452.5):c.2109A>G (p.G703=) - DNAAF1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2683C>G r.(=) p.(=) Unknown - benign g.84209864G>C g.84176258G>C DNAAF1(NM_178452.5):c.2024G>C (p.S675T), DNAAF1(NM_178452.6):c.2024G>C (p.S675T) - DNAAF1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2683C>G r.(=) p.(=) Unknown - benign g.84209864G>C - DNAAF1(NM_178452.5):c.2024G>C (p.S675T), DNAAF1(NM_178452.6):c.2024G>C (p.S675T) - DNAAF1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2731A>G r.(=) p.(=) Unknown - benign g.84209816T>C g.84176210T>C DNAAF1(NM_178452.5):c.1976T>C (p.L659P), DNAAF1(NM_178452.6):c.1976T>C (p.L659P) - DNAAF1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2731A>G r.(=) p.(=) Unknown - benign g.84209816T>C - DNAAF1(NM_178452.5):c.1976T>C (p.L659P), DNAAF1(NM_178452.6):c.1976T>C (p.L659P) - DNAAF1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2732G>C r.(=) p.(=) Unknown - benign g.84209815C>G g.84176209C>G DNAAF1(NM_178452.5):c.1975C>G (p.L659V) - DNAAF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2754G>A r.(=) p.(=) Unknown - likely benign g.84209793C>T - DNAAF1(NM_178452.5):c.1953C>T (p.S651=) - DNAAF1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2809A>G r.(=) p.(=) Unknown - benign g.84209738T>C g.84176132T>C DNAAF1(NM_178452.5):c.1898T>C (p.L633S), DNAAF1(NM_178452.6):c.1898T>C (p.L633S) - DNAAF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2809A>G r.(=) p.(=) Unknown - benign g.84209738T>C - DNAAF1(NM_178452.5):c.1898T>C (p.L633S), DNAAF1(NM_178452.6):c.1898T>C (p.L633S) - DNAAF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2859C>T r.(=) p.(=) Unknown - benign g.84209688G>A g.84176082G>A DNAAF1(NM_178452.5):c.1848G>A (p.A616=) - DNAAF1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2913G>C r.(=) p.(=) Unknown - benign g.84209634C>G g.84176028C>G DNAAF1(NM_178452.5):c.1794C>G (p.L598=), DNAAF1(NM_178452.6):c.1794C>G (p.L598=) - DNAAF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2913G>C r.(=) p.(=) Unknown - benign g.84209634C>G g.84176028C>G DNAAF1(NM_178452.5):c.1794C>G (p.L598=), DNAAF1(NM_178452.6):c.1794C>G (p.L598=) - DNAAF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2938G>A r.(=) p.(=) Unknown - likely benign g.84209609C>T g.84176003C>T DNAAF1(NM_178452.5):c.1769C>T (p.T590M) - DNAAF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2989A>G r.(=) p.(=) Unknown - VUS g.84209558T>C - DNAAF1(NM_178452.5):c.1718T>C (p.I573T) - DNAAF1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3049A>G r.(=) p.(=) Unknown - benign g.84209498T>C - DNAAF1(NM_178452.6):c.1699-41T>C - DNAAF1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4212C>A r.(=) p.(=) Unknown - benign g.84208335G>T g.84174729G>T DNAAF1(NM_178452.5):c.1698+7G>T, DNAAF1(NM_178452.6):c.1698+7G>T - DNAAF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4212C>A r.(=) p.(=) Unknown - benign g.84208335G>T - DNAAF1(NM_178452.5):c.1698+7G>T, DNAAF1(NM_178452.6):c.1698+7G>T - DNAAF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4218C>T r.(=) p.(=) Unknown - VUS g.84208329G>A g.84174723G>A DNAAF1(NM_178452.5):c.1698+1G>A - DNAAF1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4253T>A r.(=) p.(=) Unknown - likely benign g.84208294A>T - DNAAF1(NM_178452.6):c.1664A>T (p.D555V) - DNAAF1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6598T>C r.(=) p.(=) Unknown - VUS g.84205949A>G - DNAAF1(NM_178452.5):c.1612A>G (p.R538G) - DNAAF1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6643C>T r.(=) p.(=) Unknown - likely benign g.84205904G>A g.84172298G>A DNAAF1(NM_178452.5):c.1567G>A (p.V523I) - DNAAF1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*8583A>G r.(=) p.(=) Unknown - likely pathogenic g.84203964T>C g.84170358T>C DNAAF1(NM_178452.6):c.1528+2T>C - DNAAF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*8583A>G r.(=) p.(=) Unknown - pathogenic g.84203964T>C g.84170358T>C DNAAF1(NM_178452.6):c.1528+2T>C - DNAAF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8608G>A r.(=) p.(=) Unknown - benign g.84203939C>T g.84170333C>T DNAAF1(NM_178452.5):c.1505C>T (p.P502L), DNAAF1(NM_178452.6):c.1505C>T (p.P502L) - DNAAF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8608G>A r.(=) p.(=) Unknown - benign g.84203939C>T - DNAAF1(NM_178452.5):c.1505C>T (p.P502L), DNAAF1(NM_178452.6):c.1505C>T (p.P502L) - DNAAF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8608G>A r.(=) p.(=) Unknown - benign g.84203939C>T - DNAAF1(NM_178452.5):c.1505C>T (p.P502L), DNAAF1(NM_178452.6):c.1505C>T (p.P502L) - DNAAF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8650_*8727del r.(=) p.(=) Unknown - VUS g.84203848_84203925del g.84170242_84170319del DNAAF1(NM_178452.6):c.1414_1491del (p.T472_E497del) - DNAAF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*8651G>A r.(=) p.(=) Unknown - pathogenic g.84203896C>T g.84170290C>T - - DNAAF1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8759G>T r.(=) p.(=) Unknown - VUS g.84203788C>A - DNAAF1(NM_178452.5):c.1354C>A (p.P452T) - DNAAF1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8763C>T r.(=) p.(=) Unknown - likely benign g.84203784G>A g.84170178G>A DNAAF1(NM_178452.5):c.1350G>A (p.P450=) - DNAAF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8810C>T r.(=) p.(=) Unknown - benign g.84203737G>A g.84170131G>A DNAAF1(NM_178452.5):c.1303G>A (p.D435N) - DNAAF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8814G>T r.(=) p.(=) Unknown - likely benign g.84203733C>A g.84170127C>A DNAAF1(NM_178452.5):c.1299C>A (p.D433E) - DNAAF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8817C>G r.(=) p.(=) Unknown - benign g.84203730G>C g.84170124G>C DNAAF1(NM_178452.5):c.1296G>C (p.E432D), DNAAF1(NM_178452.6):c.1296G>C (p.E432D) - DNAAF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8817C>G r.(=) p.(=) Unknown - benign g.84203730G>C g.84170124G>C DNAAF1(NM_178452.5):c.1296G>C (p.E432D), DNAAF1(NM_178452.6):c.1296G>C (p.E432D) - DNAAF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8817C>G r.(=) p.(=) Unknown - benign g.84203730G>C - DNAAF1(NM_178452.5):c.1296G>C (p.E432D), DNAAF1(NM_178452.6):c.1296G>C (p.E432D) - DNAAF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8868G>C r.(=) p.(=) Unknown - likely benign g.84203679C>G g.84170073C>G DNAAF1(NM_178452.5):c.1245C>G (p.T415=) - DNAAF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8935T>C r.(=) p.(=) Unknown - benign g.84203612A>G g.84170006A>G DNAAF1(NM_178452.5):c.1178A>G (p.K393R), DNAAF1(NM_178452.6):c.1178A>G (p.K393R) - DNAAF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8935T>C r.(=) p.(=) Unknown - benign g.84203612A>G - DNAAF1(NM_178452.5):c.1178A>G (p.K393R), DNAAF1(NM_178452.6):c.1178A>G (p.K393R) - DNAAF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8935T>C r.(=) p.(=) Unknown - benign g.84203612A>G - DNAAF1(NM_178452.5):c.1178A>G (p.K393R), DNAAF1(NM_178452.6):c.1178A>G (p.K393R) - DNAAF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8941G>A r.(=) p.(=) Unknown - VUS g.84203606C>T - DNAAF1(NM_178452.5):c.1172C>T (p.P391L) - DNAAF1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8952G>C r.(=) p.(=) Unknown - benign g.84203595C>G g.84169989C>G DNAAF1(NM_178452.5):c.1161C>G (p.D387E) - DNAAF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*9036C>T r.(=) p.(=) Unknown - benign g.84203511G>A g.84169905G>A DNAAF1(NM_178452.5):c.1077G>A (p.A359=) - DNAAF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9087T>A r.(=) p.(=) Unknown - likely benign g.84203460A>T g.84169854A>T DNAAF1(NM_178452.5):c.1031-5A>T, DNAAF1(NM_178452.6):c.1031-5A>T - DNAAF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9087T>A r.(=) p.(=) Unknown - likely benign g.84203460A>T g.84169854A>T DNAAF1(NM_178452.5):c.1031-5A>T, DNAAF1(NM_178452.6):c.1031-5A>T - DNAAF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12981C>A r.(=) p.(=) Unknown - likely benign g.84199566G>T - DNAAF1(NM_001318756.1):c.285G>T (p.S95=) - DNAAF1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*13034G>T r.(=) p.(=) Unknown - likely benign g.84199513C>A g.84165907C>A DNAAF1(NM_178452.5):c.988C>A (p.R330=) - DNAAF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*13103G>C r.(=) p.(=) Unknown - likely benign g.84199444C>G g.84165838C>G DNAAF1(NM_178452.5):c.919C>G (p.Q307E) - DNAAF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*19198G>A r.(=) p.(=) Unknown - pathogenic g.84193349C>T - DNAAF1(NM_178452.6):c.811C>T (p.R271*) - DNAAF1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*19218T>C r.(=) p.(=) Unknown - VUS g.84193329A>G - DNAAF1(NM_178452.6):c.791A>G (p.Y264C) - DNAAF1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*19229C>G r.(=) p.(=) Unknown - likely benign g.84193318G>C g.84159713G>C DNAAF1(NM_178452.5):c.780G>C (p.Q260H) - DNAAF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*19244G>C r.(=) p.(=) Unknown - VUS g.84193303C>G g.84159698C>G DNAAF1(NM_178452.5):c.765C>G (p.N255K) - DNAAF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*19266C>T r.(=) p.(=) Unknown - likely benign g.84193281G>A - DNAAF1(NM_178452.5):c.743G>A (p.R248H) - DNAAF1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*19267G>T r.(=) p.(=) Unknown - likely benign g.84193280C>A - DNAAF1(NM_178452.5):c.742C>A (p.R248S) - DNAAF1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*23320T>C r.(=) p.(=) Unknown - VUS g.84189227A>G - DNAAF1(NM_178452.6):c.614A>G (p.N205S) - DNAAF1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*24172G>C r.(=) p.(=) Unknown - VUS g.84188375C>G g.84154770C>G DNAAF1(NM_178452.5):c.546C>G (p.N182K), DNAAF1(NM_178452.6):c.546C>G (p.N182K) - DNAAF1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*24172G>C r.(=) p.(=) Unknown - VUS g.84188375C>G g.84154770C>G DNAAF1(NM_178452.5):c.546C>G (p.N182K), DNAAF1(NM_178452.6):c.546C>G (p.N182K) - DNAAF1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*24195G>C r.(=) p.(=) Unknown - VUS g.84188352C>G - DNAAF1(NM_178452.6):c.523C>G (p.(Leu175Val)) - DNAAF1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*24323C>T r.(=) p.(=) Unknown - VUS g.84188224G>A g.84154619G>A DNAAF1(NM_178452.5):c.395G>A (p.R132H) - DNAAF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*28583C>G r.(=) p.(=) Unknown - benign g.84183964G>C g.84150359G>C DNAAF1(NM_178452.5):c.352+17G>C - DNAAF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*28694G>C r.(=) p.(=) Unknown - VUS g.84183853C>G - DNAAF1(NM_178452.6):c.261-3C>G - DNAAF1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*29821T>C r.(=) p.(=) Unknown - VUS g.84182726A>G - DNAAF1(NM_178452.5):c.239A>G (p.D80G) - DNAAF1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29832G>A r.(=) p.(=) Unknown - likely benign g.84182715C>T - DNAAF1(NM_178452.6):c.228C>T (p.(His76=)) - DNAAF1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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