All variants in the OBSCN gene

Information The variants shown are described using the NM_001271223.2 transcript reference sequence.

473 entries on 5 pages. Showing entries 1 - 100.
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Effect     

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     
-/. - c.-3C>G r.(?) p.(=) - benign g.228399482C>G - OBSCN(NM_052843.4):c.-3C>G - C1orf145_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.35T>A r.(?) p.(Phe12Tyr) - likely benign g.228399519T>A g.228211818T>A OBSCN(NM_001098623.2):c.35T>A (p.(Phe12Tyr)), OBSCN(NM_001271223.2):c.35T>A (p.F12Y) - OBSCN_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.35T>A r.(?) p.(Phe12Tyr) - VUS g.228399519T>A g.228211818T>A - - OBSCN_000096 5 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs191837710 Germline - 5/2790 individuals - - - Mohammed Faruq
?/. - c.35T>A r.(?) p.(Phe12Tyr) - VUS g.228399519T>A g.228211818T>A - - OBSCN_000096 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs191837710 Germline - 1/2790 individuals - - - Mohammed Faruq
-?/. - c.35T>A r.(?) p.(Phe12Tyr) - likely benign g.228399519T>A - OBSCN(NM_001098623.2):c.35T>A (p.(Phe12Tyr)), OBSCN(NM_001271223.2):c.35T>A (p.F12Y) - OBSCN_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.88A>G r.(?) p.(Ser30Gly) - VUS g.228399572A>G g.228211871A>G OBSCN(NM_001271223.2):c.88A>G (p.S30G) - OBSCN_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.187G>A r.(?) p.(Asp63Asn) - benign g.228399671G>A g.228211970G>A - - OBSCN_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.282T>C r.(?) p.(Ala94=) - benign g.228399766T>C - OBSCN(NM_052843.4):c.282T>C (p.A94=) - C1orf145_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.386_387delinsAA r.(?) p.(Phe129Ter) - pathogenic (recessive) g.228399870_228399871delinsAA g.228212169_228212170delinsAA - - OBSCN_000356 - PubMed: Cabrera-Serrano 2021 - - Germline - - - - - Johan den Dunnen
?/. - c.436G>A r.(?) p.(Asp146Asn) - VUS g.228399920G>A - OBSCN(NM_052843.4):c.436G>A (p.D146N) - C1orf145_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.496G>A r.(?) p.(Ala166Thr) - likely benign g.228399980G>A g.228212279G>A OBSCN(NM_001271223.2):c.496G>A (p.A166T) - OBSCN_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.828G>T r.(?) p.(Gln276His) - VUS g.228400312G>T - OBSCN(NM_001386125.1):c.828G>T (p.(Gln276His)) - C1orf145_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1030G>C r.(?) p.(Val344Leu) - VUS g.228401183G>C - OBSCN(NM_052843.4):c.1030G>C (p.V344L) - C1orf145_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1204T>C r.(?) p.(Tyr402His) - VUS g.228401357T>C g.228213656T>C OBSCN(NM_001271223.2):c.1204T>C (p.Y402H) - OBSCN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1505A>G r.(?) p.(Gln502Arg) - benign g.228402121A>G - OBSCN(NM_052843.4):c.1505A>G (p.Q502R) - OBSCN_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1537C>T r.(?) p.(Leu513=) - benign g.228402508C>T - OBSCN(NM_052843.4):c.1537C>T (p.L513=) - OBSCN_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1625C>T r.(?) p.(Pro542Leu) - VUS g.228402596C>T g.228214895C>T OBSCN(NM_001271223.2):c.1625C>T (p.P542L) - OBSCN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1804G>A r.(?) p.(Glu602Lys) - VUS g.228402775G>A g.228215074G>A - - OBSCN_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1829-16G>T r.(=) p.(=) - benign g.228403248G>T - OBSCN(NM_052843.4):c.1829-16G>T - OBSCN_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1829C>A r.(?) p.(Ala610Asp) - likely benign g.228403264C>A g.228215563C>A OBSCN(NM_001271223.2):c.1829C>A (p.A610D) - OBSCN_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1994G>A r.(?) p.(Arg665Gln) - likely benign g.228403429G>A g.228215728G>A OBSCN(NM_001271223.2):c.1994G>A (p.R665Q) - OBSCN_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2011C>T r.(?) p.(Arg671Trp) - VUS g.228403446C>T - OBSCN(NM_001271223.2):c.2011C>T (p.R671W) - OBSCN_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.2096-225T>C r.(=) p.(=) - VUS g.228403897T>C g.228216196T>C - - OBSCN_000002 - - - - Germline - - - - - Yu Sun
-?/. - c.2139C>T r.(?) p.(Ala713=) - likely benign g.228404165C>T g.228216464C>T OBSCN(NM_001271223.2):c.2139C>T (p.A713=) - OBSCN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2143G>A r.(?) p.(Glu715Lys) - likely benign g.228404169G>A g.228216468G>A OBSCN(NM_001271223.2):c.2143G>A (p.E715K) - OBSCN_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2143G>A r.(?) p.(Glu715Lys) - likely benign g.228404169G>A - OBSCN(NM_001271223.2):c.2143G>A (p.E715K) - OBSCN_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2163C>T r.(?) p.(His721=) - likely benign g.228404189C>T g.228216488C>T - - OBSCN_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2186A>C r.(?) p.(Glu729Ala) - VUS g.228404212A>C g.228216511A>C OBSCN(NM_001271223.2):c.2186A>C (p.E729A) - OBSCN_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2201C>G r.(?) p.(Ala734Gly) - likely benign g.228404227C>G g.228216526C>G - - OBSCN_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2230C>T r.(?) p.(Arg744Cys) - likely benign g.228404256C>T g.228216555C>T - - OBSCN_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2309G>A r.(?) p.(Arg770Gln) - likely benign g.228404335G>A g.228216634G>A - - OBSCN_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2342G>A r.(?) p.(Arg781His) - likely benign g.228404368G>A g.228216667G>A - - OBSCN_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2351G>A r.(?) p.(Arg784His) - VUS g.228404377G>A g.228216676G>A OBSCN(NM_001271223.2):c.2351G>A (p.R784H) - OBSCN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2356G>A r.(?) p.(Ala786Thr) - likely benign g.228404382G>A g.228216681G>A - - OBSCN_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2378-46T>C r.(=) p.(=) - benign g.228404668T>C - OBSCN(NM_001271223.2):c.2378-46T>C - OBSCN_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2441C>T r.(?) p.(Pro814Leu) - likely benign g.228404777C>T g.228217076C>T OBSCN(NM_001271223.2):c.2441C>T (p.P814L) - OBSCN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2482G>T r.(?) p.(Val828Leu) - likely benign g.228404818G>T g.228217117G>T OBSCN(NM_001271223.2):c.2482G>T (p.V828L) - OBSCN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2653+8C>T r.(=) p.(=) - likely benign g.228404997C>T - OBSCN(NM_001386125.1):c.2653+8C>T - OBSCN_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2654-15C>T r.(=) p.(=) - benign g.228407010C>T - OBSCN(NM_001271223.2):c.2654-15C>T - OBSCN_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2661G>A r.(?) p.(Lys887=) - likely benign g.228407032G>A g.228219331G>A OBSCN(NM_001271223.2):c.2661G>A (p.K887=) - OBSCN_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2688G>T r.(?) p.(=) - likely benign g.228407059G>T - OBSCN(NM_001386125.1):c.2688G>T (p.(Ala896=)) - OBSCN_000404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2746C>G r.(?) p.(Gln916Glu) - likely benign g.228407117C>G g.228219416C>G - - OBSCN_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2894G>A r.(?) p.(Arg965Lys) - likely benign g.228407265G>A g.228219564G>A OBSCN(NM_001271223.2):c.2894G>A (p.R965K) - OBSCN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2894G>A r.(?) p.(Arg965Lys) - benign g.228407265G>A g.228219564G>A OBSCN(NM_001271223.2):c.2894G>A (p.R965K) - OBSCN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2914C>T r.(?) p.(Arg972Cys) - benign g.228407285C>T g.228219584C>T - - OBSCN_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2938G>A r.(?) p.(Val980Met) - likely benign g.228412168G>A g.228224467G>A - - OBSCN_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2965C>T r.(?) p.(Arg989Cys) - likely benign g.228412195C>T - OBSCN(NM_001271223.2):c.2965C>T (p.R989C), OBSCN(NM_001386125.1):c.2965C>T (p.(Arg989Cys)) - OBSCN_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2965C>T r.(?) p.(Arg989Cys) - likely benign g.228412195C>T - OBSCN(NM_001271223.2):c.2965C>T (p.R989C), OBSCN(NM_001386125.1):c.2965C>T (p.(Arg989Cys)) - OBSCN_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2997T>C r.(?) p.(Ser999=) - benign g.228412227T>C - OBSCN(NM_052843.4):c.2721T>C (p.S907=) - OBSCN_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2998G>A r.(?) p.(Ala1000Thr) - benign g.228412228G>A - OBSCN(NM_052843.4):c.2722G>A (p.A908T) - OBSCN_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3078G>A r.(?) p.(Ser1026=) - benign g.228412308G>A - OBSCN(NM_052843.4):c.2802G>A (p.S934=) - OBSCN_000388 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.3163G>A r.(?) p.(Glu1055Lys) - likely pathogenic g.228412393G>A g.228224692G>A - - OBSCN_000074 - PubMed: Marston 2015 - - Germline - - - - - Johan den Dunnen
-?/. - c.3179G>A r.(?) p.(Arg1060Gln) - likely benign g.228412409G>A g.228224708G>A OBSCN(NM_001271223.2):c.3179G>A (p.R1060Q) - OBSCN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3268dup r.(?) p.(Ala1090GlyfsTer85) - likely benign g.228430946dup g.228243245dup - - OBSCN_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.3269C>G r.(?) p.(Ala1090Gly) - benign g.228430947C>G g.228243246C>G - - OBSCN_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3308C>T r.(?) p.(Thr1103Met) - likely benign g.228430986C>T g.228243285C>T - - OBSCN_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.3417A>G r.(?) p.(Thr1139=) - benign g.228431095A>G - OBSCN(NM_052843.4):c.3141A>G (p.T1047=) - OBSCN_000389 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3466C>T r.(?) p.(Arg1156Cys) - VUS g.228431144C>T g.228243443C>T OBSCN(NM_001271223.2):c.3466C>T (p.R1156C) - OBSCN_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3481+5G>T r.spl? p.? - likely benign g.228431164G>T - OBSCN(NM_001386125.1):c.3481+5G>T - OBSCN_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3482A>G r.(?) p.(Glu1161Gly) - likely benign g.228431997A>G - OBSCN(NM_001386125.1):c.3482A>G (p.(Glu1161Gly)) - OBSCN_000437 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3545C>G r.(?) p.(Ala1182Gly) - likely benign g.228432060C>G g.228244359C>G - - OBSCN_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3546C>T r.(?) p.(=) - likely benign g.228432061C>T - OBSCN(NM_001271223.2):c.3546C>T (p.A1182=) - OBSCN_000438 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3593C>A r.(?) p.(Thr1198Lys) - likely benign g.228432108C>A g.228244407C>A OBSCN(NM_001271223.2):c.3593C>A (p.T1198K) - OBSCN_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3598T>A r.(?) p.(Tyr1200Asn) - VUS g.228432113T>A g.228244412T>A OBSCN(NM_001271223.2):c.3598T>A (p.Y1200N) - OBSCN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3667C>G r.(?) p.(Leu1223Val) - VUS g.228432182C>G - OBSCN(NM_052843.4):c.3391C>G (p.L1131V) - OBSCN_000446 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3684G>A r.(?) p.(Ala1228=) - likely benign g.228432199G>A g.228244498G>A - - OBSCN_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3704A>G r.(?) p.(Glu1235Gly) - VUS g.228432219A>G g.228244518A>G - - OBSCN_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3805C>T r.(?) p.(Gln1269Ter) - likely benign g.228433161C>T g.228245460C>T - - OBSCN_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3815C>T r.(?) p.(Ala1272Val) - likely benign g.228433171C>T - OBSCN(NM_001271223.2):c.3815C>T (p.(Ala1272Val)) - OBSCN_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3861A>G r.(?) p.(Thr1287=) - benign g.228433217A>G - OBSCN(NM_052843.4):c.3585A>G (p.T1195=) - OBSCN_000390 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4082G>A r.(?) p.(Arg1361Gln) - likely benign g.228434277G>A - OBSCN(NM_001271223.2):c.4082G>A (p.(Arg1361Gln)) - OBSCN_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.4097C>G r.(?) p.(Ala1366Gly) - benign g.228434292C>G g.228246591C>G - - OBSCN_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.4104C>A r.(?) p.(Ala1368=) - likely benign g.228434299C>A - OBSCN(NM_001271223.2):c.4104C>A (p.A1368=) - OBSCN_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4200T>C r.(?) p.(Ala1400=) - benign g.228434395T>C - OBSCN(NM_052843.4):c.3924T>C (p.A1308=) - OBSCN_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.4272T>C r.(?) p.(Ala1424=) - benign g.228434467T>C - OBSCN(NM_052843.4):c.3996T>C (p.A1332=) - OBSCN_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4282C>T r.(?) p.(Arg1428Trp) - likely benign g.228434477C>T g.228246776C>T OBSCN(NM_001271223.2):c.4282C>T (p.R1428W) - OBSCN_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4361C>T r.(?) p.(Ala1454Val) - VUS g.228437717C>T - OBSCN(NM_001271223.2):c.4361C>T (p.A1454V), OBSCN(NM_052843.4):c.4085C>T (p.A1362V) - OBSCN_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.4361C>T r.(?) p.(Ala1454Val) - VUS g.228437717C>T - OBSCN(NM_001271223.2):c.4361C>T (p.A1454V), OBSCN(NM_052843.4):c.4085C>T (p.A1362V) - OBSCN_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4373C>G r.(?) p.(Ala1458Gly) - likely benign g.228437729C>G g.228250028C>G - - OBSCN_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.4393G>A r.(?) p.(Glu1465Lys) - VUS g.228437749G>A - OBSCN(NM_052843.4):c.4117G>A (p.E1373K) - OBSCN_000398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.4436G>A r.(?) p.(Gly1479Glu) - VUS g.228437792G>A g.228250091G>A OBSCN(NM_001271223.2):c.4436G>A (p.G1479E) - OBSCN_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4586-34T>G r.(=) p.(=) - benign g.228444318T>G - OBSCN(NM_001271223.2):c.4586-34T>G - OBSCN_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.4619T>C r.(?) p.(Val1540Ala) - benign g.228444385T>C g.228256684T>C OBSCN(NM_001271223.2):c.4619T>C (p.V1540A) - OBSCN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.4624_4629dup r.(?) p.(Arg1542_Glu1543dup) - VUS g.228444390_228444395dup - OBSCN(NM_001271223.2):c.4624_4629dupAGGGAG (p.(Arg1542_Glu1543dup)) - OBSCN_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4742G>A r.(?) p.(Arg1581His) - likely benign g.228444508G>A g.228256807G>A - - OBSCN_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.4744A>G r.(?) p.(Met1582Val) - likely benign g.228444510A>G g.228256809A>G - - OBSCN_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.4797G>A r.(?) p.(Ala1599=) - benign g.228444563G>A g.228256862G>A OBSCN(NM_001271223.2):c.4797G>A (p.A1599=) - OBSCN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.4804G>A r.(?) p.(Gly1602Arg) - VUS g.228444570G>A g.228256869G>A - - OBSCN_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.4862-10C>G r.(=) p.(=) - likely benign g.228447192C>G - OBSCN(NM_001386125.1):c.4862-10C>G - OBSCN_000439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4931C>T r.(?) p.(Ala1644Val) - VUS g.228447271C>T - OBSCN(NM_001386125.1):c.4931C>T (p.(Ala1644Val)) - OBSCN_000407 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5122C>T r.(?) p.(Arg1708Cys) - likely benign g.228447462C>T g.228259761C>T OBSCN(NM_001271223.2):c.5122C>T (p.R1708C) - OBSCN_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5122C>T r.(?) p.(Arg1708Cys) - likely benign g.228447462C>T g.228259761C>T OBSCN(NM_001271223.2):c.5122C>T (p.R1708C) - OBSCN_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.5137+13G>A r.(=) p.(=) - benign g.228447490G>A g.228259789G>A OBSCN(NM_001271223.2):c.5137+13G>A - OBSCN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.5148G>A r.(?) p.(Ala1716=) - likely benign g.228451827G>A g.228264126G>A OBSCN(NM_001271223.2):c.5148G>A (p.A1716=) - OBSCN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.5337G>C r.(?) p.(Glu1779Asp) - benign g.228452016G>C g.228264315G>C OBSCN(NM_001271223.2):c.5337G>C (p.E1779D) - OBSCN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.5349G>A r.(?) p.(Ala1783=) - likely benign g.228452028G>A g.228264327G>A OBSCN(NM_001271223.2):c.5349G>A (p.A1783=) - OBSCN_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5352C>T r.(?) p.(Asp1784=) - likely benign g.228452031C>T g.228264330C>T - - OBSCN_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.5472G>A r.(?) p.(=) - likely benign g.228456289G>A - OBSCN(NM_001271223.2):c.5472G>A (p.A1824=) - OBSCN_000428 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.5565A>C r.(?) p.(Lys1855Asn) - likely benign g.228456382A>C - OBSCN(NM_001271223.2):c.5565A>C (p.K1855N) - OBSCN_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.5790C>G r.(?) p.(Ser1930Arg) - VUS g.228459726C>G g.228272025C>G OBSCN(NM_001271223.2):c.5790C>G (p.(Ser1930Arg)) - OBSCN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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