Unique variants in the DNASE1L1 gene

Information The variants shown are described using the NM_001009932.1 transcript reference sequence.

101 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. 1 - c.-1082632_*65207dup - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 1 - c.-221311_*60640dup r.0? p.0? - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
-/., -?/. 5 - c.-9540C>T r.(?) p.(=) - benign, likely benign g.153649337G>A g.154420998G>A 1 more item - TAZ_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.-9468C>T r.(?) p.(=) - VUS g.153649265G>A - TAZ(NM_001303465.1):c.814G>A (p.D272N) - DNASE1L1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-9459_-9453del r.(?) p.(=) - pathogenic g.153649252_153649258del g.154420913_154420919del TAZ(NM_000116.3):c.788_794delGGAAAGC (p.R263Pfs*2) - TAZ_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.-9454G>A r.(?) p.(=) - VUS g.153649251C>T - TAZ(NM_000116.5):c.787C>T (p.R263W) - DNASE1L1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 - c.-9446A>C r.(?) p.(=) - likely benign, VUS g.153649243T>G g.154420904T>G TAZ(NM_000116.3):c.779T>G (p.V260G) - DNASE1L1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.-9274C>T r.(?) p.(=) - VUS g.153649071G>A g.154420732G>A TAZ(NM_000116.3):c.774G>A (p.S258=) - TAZ_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.-9261G>A r.(?) p.(=) - likely benign g.153649058C>T g.154420719C>T TAZ(NM_000116.5):c.761C>T (p.A254V) - TAZ_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.-9251G>A r.(?) p.(=) - likely benign g.153649048C>T g.154420709C>T TAZ(NM_000116.5):c.751C>T (p.R251W) - TAZ_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 3 - c.-9247G>A r.(?) p.(=) - benign, likely benign g.153649044C>T g.154420705C>T TAZ(NM_000116.3):c.747C>T (p.L249=), TAZ(NM_000116.5):c.747C>T (p.L249=) - TAZ_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.-9247G>C r.(?) p.(=) - likely benign g.153649044C>G g.154420705C>G TAZ(NM_000116.3):c.747C>G (p.L249=) - TAZ_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-9218C>T r.(?) p.(=) - likely pathogenic g.153649015G>A g.154420676G>A TAZ(NM_000116.5):c.718G>A (p.G240R) - TAZ_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-8809C>A r.(?) p.(=) - VUS g.153648606G>T g.154420267G>T TAZ(NM_001303465.1):c.712+3G>T - DNASE1L1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-8782C>T r.(?) p.(=) - VUS g.153648579G>A g.154420240G>A TAZ(NM_001303465.1):c.688G>A (p.A230T) - TAZ_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-8781G>A r.(?) p.(=) - VUS g.153648578C>T g.154420239C>T TAZ(NM_000116.3):c.674C>T (p.P225L) - TAZ_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-8734A>C r.(?) p.(=) - benign g.153648531T>G - TAZ(NM_000116.3):c.647-20T>G - DNASE1L1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-8728G>A r.(?) p.(=) - likely benign g.153648525C>T g.154420186C>T - - DNASE1L1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8726C>A r.(?) p.(=) - likely benign g.153648523G>T g.154420184G>T - - DNASE1L1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8718G>A r.(?) p.(=) - likely benign g.153648515C>T g.154420176C>T TAZ(NM_000116.5):c.647-36C>T - TAZ_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.-8712G>A r.(?) p.(=) - benign g.153648509C>T - - - TAZ_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8701_-8700delinsT r.(?) p.(=) - likely benign g.153648497_153648498delinsA g.154420158_154420159delinsA - - DNASE1L1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8685A>C r.(?) p.(=) - likely benign g.153648482T>G g.154420143T>G - - DNASE1L1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8682C>G r.(?) p.(=) - likely benign g.153648479G>C g.154420140G>C - - DNASE1L1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8680_-8679insA r.(?) p.(=) - likely benign g.153648476_153648477insT - - - DNASE1L1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8656_-8655insC r.(?) p.(=) - likely benign g.153648452_153648453insG g.154420113_154420114insG - - DNASE1L1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.-8650G>A r.(?) p.(=) - benign, likely benign g.153648447C>T g.154420108C>T TAZ(NM_000116.3):c.646+14C>T - TAZ_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.-8645C>T r.(?) p.(=) - benign g.153648442G>A - TAZ(NM_000116.3):c.646+9G>A - DNASE1L1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.-8636C>T r.(?) p.(=) - pathogenic g.153648433G>A g.154420094G>A TAZ(NM_000116.3):c.646G>A (p.G216R) - TAZ_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/., ?/. 3 - c.-8635G>A r.(?) p.(=) - likely benign, VUS g.153648432C>T g.154420093C>T 1 more item - TAZ_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 2 - c.-8584G>A r.(?) p.(=) - benign, likely benign g.153648381C>T g.154420042C>T TAZ(NM_000116.3):c.594C>T (p.R198=), TAZ(NM_000116.5):c.594C>T (p.R198=) - TAZ_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.-8567del r.(?) p.(=) - likely benign g.153648364del g.154420025del - - DNASE1L1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8561dup r.(?) p.(=) - likely benign g.153648363dup g.154420024dup - - DNASE1L1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-8557T>C r.(?) p.(=) - likely benign g.153648354A>G g.154420015A>G - - DNASE1L1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-8266G>A r.(?) p.(=) - benign g.153648063C>T g.154419724C>T TAZ(NM_000116.3):c.561C>T (p.S187=) - TAZ_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 5 - c.-8227G>A r.(?) p.(=) - benign, likely benign g.153648024C>T g.154419685C>T TAZ(NM_000116.3):c.542-20C>T, TAZ(NM_000116.5):c.542-20C>T - TAZ_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.-8131G>A r.(?) p.(=) - likely benign g.153647928C>T - TAZ(NM_000116.5):c.507C>T (p.L169=) - TAZ_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-2726C>G r.(?) p.(=) - VUS g.153642523G>C g.154414186G>C TAZ(NM_000116.3):c.456G>C (p.E152D) - TAZ_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.-2653A>G r.(?) p.(=) - benign, likely benign g.153642450T>C g.154414113T>C TAZ(NM_000116.3):c.383T>C (p.F128S), TAZ(NM_000116.5):c.383T>C (p.F128S) - TAZ_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 3 - c.-2635G>T r.(?) p.(=) - likely benign g.153642432C>A g.154414095C>A TAZ(NM_000116.5):c.371-6C>A, TAZ(NM_001303465.1):c.426-6C>A - TAZ_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.-2105C>T r.(?) p.(=) - VUS g.153641902G>A g.154413565G>A TAZ(NM_000116.3):c.368G>A (p.R123Q) - RPL10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.-2088C>T r.(?) p.(=) - likely benign g.153641885G>A g.154413548G>A TAZ(NM_000116.5):c.351G>A (p.K117=) - TAZ_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.-2083C>G r.(?) p.(=) - VUS g.153641880G>C g.154413543G>C - - TAZ_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.-2061T>C r.(?) p.(=) - likely benign g.153641858A>G g.154413521A>G TAZ(NM_000116.5):c.324A>G (p.L108=) - TAZ_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 2 - c.-1822G>A r.(?) p.(=) - benign g.153641619C>T g.154413282C>T TAZ(NM_000116.3):c.284+30C>T - TAZ_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.-1804A>T r.(?) p.(=) - likely benign g.153641601T>A g.154413264T>A TAZ(NM_000116.5):c.284+12T>A - TAZ_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 - c.-1789C>T r.(?) p.(=) - pathogenic g.153641586G>A g.154413249G>A TAZ(NM_000116.3):c.281G>A (p.R94H) - TAZ_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/. 1 - c.-1788G>A r.(?) p.(=) - likely pathogenic g.153641585C>T g.154413248C>T TAZ(NM_000116.5):c.280C>T (p.R94C) - TAZ_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.-1762C>T r.(?) p.(=) - VUS g.153641559G>A g.154413222G>A TAZ(NM_000116.3):c.254G>A (p.R85H), TAZ(NM_000116.5):c.254G>A (p.R85H) - TAZ_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.-782C>T r.(?) p.(=) - benign g.153640579G>A g.154412242G>A TAZ(NM_000116.3):c.238+28G>A - TAZ_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-713A>T r.(?) p.(=) - VUS g.153640510T>A - - - RPL10_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-658C>G r.(?) p.(=) - VUS g.153640455G>C g.154412118G>C TAZ(NM_000116.3):c.142G>C (p.E48Q) - RPL10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.-658C>T r.(?) p.(=) - VUS g.153640455G>A g.154412118G>A TAZ(NM_000116.3):c.142G>A (p.E48K) - TAZ_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-622del r.(?) p.(=) - likely benign g.153640420del g.154412083del TAZ(NM_001303465.1):c.165-3delC - RPL10_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.-620G>A r.(?) p.(=) - benign, likely benign g.153640417C>T g.154412080C>T TAZ(NM_000116.3):c.110-6C>T (, p.(=)) - DNASE1L1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.-615A>G r.(?) p.(=) - likely benign g.153640412T>C g.154412075T>C - - RPL10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.-609G>A r.(?) p.(=) - benign g.153640406C>T g.154412069= DNASE1L1(NM_001009932.2):c.-609G>A, TAZ(NM_000116.3):c.110-17C>T - TAZ_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.-597C>A r.(?) p.(=) - likely benign g.153640394G>T g.154412057G>T - - RPL10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-436G>A r.(?) p.(=) - VUS g.153640233C>T g.154411896C>T - - RPL10_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-436G>C r.(?) p.(=) - likely benign g.153640233C>G g.154411896C>G - - RPL10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-435T>C r.(?) p.(=) - VUS g.153640232A>G g.154411895A>G - - RPL10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-434C>G r.(?) p.(=) - benign g.153640231G>C g.154411894G>C - - RPL10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-433C>A r.(?) p.(=) - VUS g.153640230G>T g.154411893G>T - - RPL10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-431+2_-431+3insA r.spl? p.? - VUS g.153640225_153640226insT g.154411888_154411889insT - - RPL10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-431+3G>A r.spl? p.? - likely benign g.153640225C>T g.154411888C>T - - RPL10_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-431+4A>C r.spl? p.? - VUS g.153640224T>G g.154411887T>G - - RPL10_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-431+18G>T r.(=) p.(=) - VUS g.153640210C>A g.154411873C>A - - RPL10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.-431+47T>C r.(=) p.(=) - likely pathogenic g.153640181A>G - - - RPL10_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-431+135C>G r.(=) p.(=) - benign g.153640093G>C g.154411756G>C - - TAZ_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-431+167del r.(=) p.(=) - benign g.153640061del - - - RPL10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-431+167dup r.(=) p.(=) - benign g.153640061dup - TAZ(NM_000116.3):c.-120dupT - RPL10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 -1, _1 c.-431+172del r.(=) p.(=) - likely benign g.153640060del g.154411724del - - TAZ_000203 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-88+143A>G r.(=) p.(=) - VUS g.153637305T>C g.154408969= - - DNASE1L1_000018 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-88+590C>G r.(=) p.(=) - VUS g.153636858G>C g.154408522= - - DNASE1L1_000015 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-44A>G r.(?) p.(=) - VUS g.153633953T>C g.154405612= - - DNASE1L1_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.14C>T r.(?) p.(Thr5Ile) - VUS g.153633896G>A g.154405555G>A DNASE1L1(NM_001009932.1):c.14C>T (p.(Thr5Ile)) - DNASE1L1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.128T>C r.(?) p.(Leu43Ser) - VUS g.153633782A>G g.154405441A>G DNASE1L1(NM_006730.3):c.128T>C (p.L43S) - RPL10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.136-109C>T r.(=) p.(=) - VUS g.153633533G>A g.154405192= - - DNASE1L1_000022 - - - - Germline - - - - - Yu Sun
-?/., ?/. 3 4 c.201C>G r.(?) p.(=) - likely benign, VUS g.153633359G>C g.154405018= P67P - DNASE1L1_000009 recurrent, found 114 times PubMed: Tarpey 2009 - - Germline - 114/208 cases - - - Yu Sun, Lucy Raymond
?/. 1 - c.211C>T r.(?) p.(Arg71Ter) - VUS g.153633349G>A g.154405008G>A DNASE1L1(NM_006730.3):c.211C>T (p.R71*) - RPL10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.224G>A r.(?) p.(Arg75Gln) - likely benign g.153633336C>T g.154404995C>T DNASE1L1(NM_006730.3):c.224G>A (p.R75Q) - DNASE1L1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 5 c.278G>A r.(?) p.(Ser93Asn) - VUS g.153633202C>T g.154404861C>T S93N - DNASE1L1_000031 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 5 c.294G>A r.(?) p.(=) - likely benign g.153633186C>T g.154404845C>T T98T - DNASE1L1_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.311+8C>G r.(=) p.(=) - VUS g.153633161G>C g.154404820G>C DNASE1L1(NM_001009932.1):c.311+8C>G (p.(=)) - DNASE1L1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.312-233C>A r.(=) p.(=) - VUS g.153632196G>T g.154403855= - - DNASE1L1_000006 - - - - Germline - - - - - Yu Sun
?/. 1 6 c.364G>A r.(?) p.(Val122Ile) - VUS g.153631911C>T g.154403570C>T V122I - DNASE1L1_000029 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - - - Lucy Raymond
./. 1 - c.413-18G>A r.(=) p.(=) - pathogenic (dominant) g.153631740C>T g.154403399C>T - - RPL10_000012 - PubMed: Ulirsch 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.766G>A r.(?) p.(Glu256Lys) - VUS g.153631291C>T g.154402950C>T DNASE1L1(NM_001009932.1):c.766G>A (p.(Glu256Lys)) - DNASE1L1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.*755G>A r.(=) p.(=) - VUS g.153630293C>T g.154401952= - - DNASE1L1_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*793C>G r.(=), r.(?) p.(=) - VUS g.153630255G>C g.154401914= - - RPL10_000003 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.*1800G>A r.(=) p.(=) - likely benign g.153629248C>T g.154400907C>T RPL10(NM_001256577.2):c.535C>T (p.L179=) - RPL10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*1804G>C r.(=) p.(=) - VUS g.153629244C>G g.154400903C>G RPL10(NM_001256577.2):c.531C>G (p.Y177*) - RPL10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1865G>A r.(=) p.(=) - likely benign g.153629183C>T g.154400842C>T RPL10(NM_001256577.1):c.470C>T (p.(Pro157Leu)) - RPL10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*1890C>T r.(=) p.(=) - likely benign g.153629158G>A - RPL10(NM_001303625.1):c.608G>A (p.R203H) - RPL10_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*1893T>C r.(=) p.(=) - benign g.153629155A>G g.154400814= RPL10(NM_006013.4):c.605A>G (p.N202S) - RPL10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*1933G>A r.(=) p.(=) - VUS g.153629115C>T g.154400774C>T RPL10(NM_006013.3):c.565C>T (p.(Arg189Trp)) - RPL10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.*2115C>T r.(=) p.(=) - likely pathogenic g.153628933G>A g.154400592G>A - - RPL10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*2251G>A r.(=) p.(=) - likely benign g.153628797C>T g.154400456C>T RPL10(NM_001303625.1):c.330-8C>T - RPL10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*2877T>C r.(=) p.(=) - pathogenic g.153628171A>G g.154399830A>G RPL10(NM_001303625.1):c.218A>G (p.N73S) - RPL10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.*3206T>C r.(=) p.(=) - VUS g.153627842A>G g.154399501A>G RPL10(NM_001303625.1):c.97A>G (p.I33V) - RPL10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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