All variants in the CCDC88C gene

Information The variants shown are described using the NM_001080414.3 transcript reference sequence.

186 entries on 2 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.60+8C>A r.(=) p.(=) - benign g.91883967G>T g.91417623G>T CCDC88C(NM_001080414.4):c.60+8C>A - CCDC88C_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.61-317C>T r.(=) p.(=) - benign g.91883499G>A g.91417155G>A CCDC88C(NM_001080414.4):c.61-317C>T - CCDC88C_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.161T>G r.(?) p.(Ile54Arg) - VUS g.91883082A>C - CCDC88C(NM_001080414.3):c.161T>G (p.I54R) - CCDC88C_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.162-8T>C r.(=) p.(=) - likely benign g.91875119A>G - CCDC88C(NM_001080414.3):c.162-8T>C - CCDC88C_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.199G>A r.(?) p.(Val67Ile) - likely benign g.91875074C>T g.91408730C>T CCDC88C(NM_001080414.3):c.199G>A (p.(Val67Ile)) - CCDC88C_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.206A>G r.(?) p.(Asn69Ser) - VUS g.91875067T>C g.91408723T>C CCDC88C(NM_001080414.3):c.206A>G (p.(Asn69Ser)) - CCDC88C_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.228G>C r.(?) p.(Gln76His) - VUS g.91875045C>G - CCDC88C(NM_001080414.3):c.228G>C (p.(Gln76His)) - CCDC88C_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.271-9T>C r.(=) p.(=) - likely benign g.91826064A>G g.91359720A>G CCDC88C(NM_001080414.3):c.271-9T>C - CCDC88C_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.273A>G r.(?) p.(Glu91=) - likely benign g.91826053T>C g.91359709T>C CCDC88C(NM_001080414.3):c.273A>G (p.E91=) - CCDC88C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.322G>A r.(?) p.(Gly108Ser) - VUS g.91826004C>T g.91359660C>T CCDC88C(NM_001080414.3):c.322G>A (p.G108S) - CCDC88C_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.372G>A r.(?) p.(Leu124=) - likely benign g.91809970C>T - CCDC88C(NM_001080414.3):c.372G>A (p.L124=) - CCDC88C_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.400-5C>T r.spl? p.? - likely benign g.91808812G>A g.91342468G>A CCDC88C(NM_001080414.3):c.400-5C>T, CCDC88C(NM_001080414.4):c.400-5C>T - CCDC88C_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.400-5C>T r.spl? p.? - likely benign g.91808812G>A - CCDC88C(NM_001080414.3):c.400-5C>T, CCDC88C(NM_001080414.4):c.400-5C>T - CCDC88C_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.483+8C>T r.(=) p.(=) - likely benign g.91808716G>A g.91342372G>A CCDC88C(NM_001080414.3):c.483+8C>T - CCDC88C_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.534C>T r.(?) p.(Pro178=) - likely benign g.91806318G>A g.91339974G>A CCDC88C(NM_001080414.3):c.534C>T (p.P178=) - CCDC88C_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.538G>A r.(?) p.(Val180Met) - likely benign g.91806314C>T g.91339970C>T CCDC88C(NM_001080414.3):c.538G>A (p.V180M) - CCDC88C_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.566C>T r.(?) p.(Ser189Leu) - VUS g.91806286G>A - CCDC88C(NM_001080414.4):c.566C>T (p.(Ser189Leu)) - CCDC88C_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.589C>T r.(?) p.(Arg197Trp) - VUS g.91806263G>A - CCDC88C(NM_001080414.4):c.589C>T (p.R197W) - CCDC88C_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.590G>A r.(?) p.(Arg197Gln) - likely benign g.91806262C>T g.91339918C>T CCDC88C(NM_001080414.3):c.590G>A (p.R197Q) - CCDC88C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.601G>A r.(?) p.(Asp201Asn) - VUS g.91806251C>T - CCDC88C(NM_001080414.4):c.601G>A (p.D201N) - CCDC88C_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.607C>T r.(?) p.(Arg203Trp) - VUS g.91806245G>A g.91339901G>A CCDC88C(NM_001080414.4):c.607C>T (p.R203W) - CCDC88C_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.608G>A r.(?) p.(Arg203Gln) - VUS g.91806244C>T g.91339900C>T CCDC88C(NM_001080414.3):c.608G>A (p.R203Q) - CCDC88C_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.625-8G>A r.(=) p.(=) - likely benign g.91805814C>T - CCDC88C(NM_001080414.4):c.625-8G>A - CCDC88C_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.754C>G r.(?) p.(Leu252Val) - benign g.91805677G>C g.91339333G>C CCDC88C(NM_001080414.3):c.754C>G (p.L252V) - CCDC88C_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.759C>T r.(?) p.(Ala253=) - likely benign g.91805672G>A - CCDC88C(NM_001080414.3):c.759C>T (p.A253=) - CCDC88C_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.766C>T r.(?) p.(Leu256=) - likely benign g.91805665G>A - CCDC88C(NM_001080414.3):c.766C>T (p.L256=) - CCDC88C_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.809+11G>A r.(=) p.(=) - benign g.91805611C>T - CCDC88C(NM_001080414.4):c.809+11G>A - CCDC88C_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.821C>T r.(?) p.(Thr274Ile) - VUS g.91804903G>A g.91338559G>A CCDC88C(NM_001080414.3):c.821C>T (p.(Thr274Ile)) - CCDC88C_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.891+8G>A r.(=) p.(=) - likely benign g.91804825C>T g.91338481C>T CCDC88C(NM_001080414.3):c.891+8G>A (p.(=)) - CCDC88C_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.891+8G>A r.(=) p.(=) - likely benign g.91804825C>T g.91338481C>T CCDC88C(NM_001080414.3):c.891+8G>A (p.(=)) - CCDC88C_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.906G>A r.(?) p.(Ala302=) - benign g.91804493C>T g.91338149C>T CCDC88C(NM_001080414.3):c.906G>A (p.A302=) - CCDC88C_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.917G>A r.(?) p.(Arg306Gln) - VUS g.91804482C>T - CCDC88C(NM_001080414.3):c.917G>A (p.(Arg306Gln)), CCDC88C(NM_001080414.4):c.917G>A (p.R306Q) - CCDC88C_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.917G>A r.(?) p.(Arg306Gln) - VUS g.91804482C>T - CCDC88C(NM_001080414.3):c.917G>A (p.(Arg306Gln)), CCDC88C(NM_001080414.4):c.917G>A (p.R306Q) - CCDC88C_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.925C>T r.(?) p.(Arg309Cys) - VUS g.91804474G>A g.91338130G>A CCDC88C(NM_001080414.3):c.925C>T (p.(Arg309Cys)) - CCDC88C_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.958G>C r.(?) p.(Glu320Gln) - VUS g.91804441C>G g.91338097C>G CCDC88C(NM_001080414.4):c.958G>C (p.E320Q) - CCDC88C_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.969C>T r.(?) p.(Asn323=) - likely benign g.91804430G>A g.91338086G>A CCDC88C(NM_001080414.3):c.969C>T (p.N323=) - CCDC88C_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.971G>A r.(?) p.(Arg324His) - VUS g.91804428C>T g.91338084C>T CCDC88C(NM_001080414.3):c.971G>A (p.R324H), CCDC88C(NM_001080414.4):c.971G>A (p.R324H) - CCDC88C_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.971G>A r.(?) p.(Arg324His) - VUS g.91804428C>T g.91338084C>T CCDC88C(NM_001080414.3):c.971G>A (p.R324H), CCDC88C(NM_001080414.4):c.971G>A (p.R324H) - CCDC88C_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.973G>T r.(?) p.(Val325Leu) - likely benign g.91804426C>A g.91338082C>A CCDC88C(NM_001080414.3):c.973G>T (p.V325L) - CCDC88C_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.982C>G r.(?) p.(Leu328Val) - VUS g.91804417G>C g.91338073G>C CCDC88C(NM_001080414.3):c.982C>G (p.L328V) - CCDC88C_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.983T>G r.(?) p.(Leu328Arg) - VUS g.91804416A>C g.91338072A>C CCDC88C(NM_001080414.3):c.983T>G (p.L328R) - CCDC88C_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1000C>T r.(?) p.(Arg334Cys) - VUS g.91804399G>A - CCDC88C(NM_001080414.3):c.1000C>T (p.R334C) - CCDC88C_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1013A>G r.(?) p.(Lys338Arg) - likely benign g.91804386T>C - CCDC88C(NM_001080414.3):c.1013A>G (p.K338R) - CCDC88C_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1050+9C>T r.(=) p.(=) - likely benign g.91804340G>A g.91337996G>A CCDC88C(NM_001080414.3):c.1050+9C>T, CCDC88C(NM_001080414.4):c.1050+9C>T - CCDC88C_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1050+9C>T r.(=) p.(=) - likely benign g.91804340G>A g.91337996G>A CCDC88C(NM_001080414.3):c.1050+9C>T, CCDC88C(NM_001080414.4):c.1050+9C>T - CCDC88C_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1050+9C>T r.(=) p.(=) - likely benign g.91804340G>A - CCDC88C(NM_001080414.3):c.1050+9C>T, CCDC88C(NM_001080414.4):c.1050+9C>T - CCDC88C_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1065T>C r.(?) p.(Asp355=) - likely benign g.91792386A>G g.91326042A>G CCDC88C(NM_001080414.3):c.1065T>C (p.D355=) - CCDC88C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1126C>T r.(?) p.(Arg376Trp) - likely benign g.91792325G>A - CCDC88C(NM_001080414.3):c.1126C>T (p.(Arg376Trp)) - CCDC88C_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1198-3dup r.spl? p.? - likely benign g.91791273dup - CCDC88C(NM_001080414.4):c.1198-3dup - CCDC88C_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1527+8G>A r.(=) p.(=) - likely benign g.91787456C>T g.91321112C>T CCDC88C(NM_001080414.3):c.1527+8G>A, CCDC88C(NM_001080414.4):c.1527+8G>A - CCDC88C_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1527+8G>A r.(=) p.(=) - likely benign g.91787456C>T - CCDC88C(NM_001080414.3):c.1527+8G>A, CCDC88C(NM_001080414.4):c.1527+8G>A - CCDC88C_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1564C>T r.(?) p.(Gln522*) - likely pathogenic g.91782095G>A - CCDC88C(NM_001080414.4):c.1564C>T (p.(Gln522*)) - CCDC88C_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1666-5C>T r.spl? p.? - likely benign g.91780499G>A g.91314155G>A CCDC88C(NM_001080414.3):c.1666-5C>T - CCDC88C_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1715C>T r.(?) p.(Ser572Leu) - likely benign g.91780445G>A g.91314101G>A CCDC88C(NM_001080414.3):c.1715C>T (p.S572L, p.(Ser572Leu)), CCDC88C(NM_001080414.4):c.1715C>T (p.S572L) - CCDC88C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1715C>T r.(?) p.(Ser572Leu) - VUS g.91780445G>A g.91314101G>A CCDC88C(NM_001080414.3):c.1715C>T (p.S572L, p.(Ser572Leu)), CCDC88C(NM_001080414.4):c.1715C>T (p.S572L) - CCDC88C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1715C>T r.(?) p.(Ser572Leu) - VUS g.91780445G>A g.91314101G>A CCDC88C(NM_001080414.3):c.1715C>T (p.S572L, p.(Ser572Leu)), CCDC88C(NM_001080414.4):c.1715C>T (p.S572L) - CCDC88C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1816C>T r.(?) p.(Leu606Phe) - VUS g.91780344G>A g.91314000G>A CCDC88C(NM_001080414.4):c.1816C>T (p.L606F) - CCDC88C_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1878G>C r.(?) p.(Lys626Asn) - VUS g.91780282C>G g.91313938C>G CCDC88C(NM_001080414.3):c.1878G>C (p.K626N) - CCDC88C_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1878G>C r.(?) p.(Lys626Asn) - VUS g.91780282C>G g.91313938C>G - - CCDC88C_000087 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78468999 Germline - 8/2792 individuals - - - Mohammed Faruq
-?/. - c.1916G>A r.(?) p.(Arg639Gln) - likely benign g.91780244C>T g.91313900C>T CCDC88C(NM_001080414.3):c.1916G>A (p.(Arg639Gln)) - CCDC88C_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1984G>A r.(?) p.(Glu662Lys) - likely benign g.91780176C>T g.91313832C>T CCDC88C(NM_001080414.3):c.1984G>A (p.E662K) - CCDC88C_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2118C>T r.(?) p.(=) - likely benign g.91780042G>A - CCDC88C(NM_001080414.4):c.2118C>T (p.N706=) - CCDC88C_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2129G>A r.(?) p.(Arg710His) - VUS g.91780031C>T - CCDC88C(NM_001080414.4):c.2129G>A (p.R710H) - CCDC88C_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2149C>T r.(?) p.(Arg717Cys) - VUS g.91780011G>A g.91313667G>A CCDC88C(NM_001080414.3):c.2149C>T (p.(Arg717Cys)) - CCDC88C_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2171C>T r.(?) p.(Ala724Val) - likely benign g.91779989G>A g.91313645G>A CCDC88C(NM_001080414.4):c.2171C>T (p.A724V) - CCDC88C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2181G>A r.(?) p.(Glu727=) - likely benign g.91779979C>T g.91313635C>T CCDC88C(NM_001080414.3):c.2181G>A (p.E727=) - CCDC88C_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2255A>G r.(?) p.(Lys752Arg) - VUS g.91779905T>C - CCDC88C(NM_001080414.3):c.2255A>G (p.(Lys752Arg)), CCDC88C(NM_001080414.4):c.2255A>G (p.K752R) - CCDC88C_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2255A>G r.(?) p.(Lys752Arg) - VUS g.91779905T>C - CCDC88C(NM_001080414.3):c.2255A>G (p.(Lys752Arg)), CCDC88C(NM_001080414.4):c.2255A>G (p.K752R) - CCDC88C_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2275C>T r.(?) p.(Leu759Phe) - VUS g.91779885G>A g.91313541G>A CCDC88C(NM_001080414.3):c.2275C>T (p.L759F) - CCDC88C_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2289C>T r.(?) p.(Ser763=) - likely benign g.91779871G>A g.91313527G>A CCDC88C(NM_001080414.3):c.2289C>T (p.S763=) - CCDC88C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2386C>T r.(?) p.(Arg796Cys) - VUS g.91779774G>A g.91313430G>A CCDC88C(NM_001080414.3):c.2386C>T (p.R796C) - CCDC88C_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2402G>A r.(?) p.(Arg801Gln) - VUS g.91779758C>T - CCDC88C(NM_001080414.4):c.2402G>A (p.R801Q) - CCDC88C_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2420G>A r.(?) p.(Arg807Gln) - likely benign g.91779740C>T g.91313396C>T CCDC88C(NM_001080414.4):c.2420G>A (p.R807Q) - CCDC88C_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2434C>G r.(?) p.(Gln812Glu) - likely benign g.91779726G>C - CCDC88C(NM_001080414.3):c.2434C>G (p.(Gln812Glu)) - CCDC88C_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2456A>G r.(?) p.(Asp819Gly) - VUS g.91779704T>C g.91313360T>C CCDC88C(NM_001080414.3):c.2456A>G (p.D819G), CCDC88C(NM_001080414.4):c.2456A>G (p.D819G) - CCDC88C_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2456A>G r.(?) p.(Asp819Gly) - VUS g.91779704T>C - CCDC88C(NM_001080414.3):c.2456A>G (p.D819G), CCDC88C(NM_001080414.4):c.2456A>G (p.D819G) - CCDC88C_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2522C>T r.(?) p.(Ala841Val) - likely benign g.91779638G>A - CCDC88C(NM_001080414.3):c.2522C>T (p.(Ala841Val)) - CCDC88C_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2542G>A r.(?) p.(Val848Met) - VUS g.91779618C>T - CCDC88C(NM_001080414.4):c.2542G>A (p.V848M) - CCDC88C_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2590G>A r.(?) p.(Ala864Thr) - likely benign g.91779570C>T g.91313226C>T CCDC88C(NM_001080414.3):c.2590G>A (p.A864T), CCDC88C(NM_001080414.4):c.2590G>A (p.(Ala864Thr)) - CCDC88C_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2590G>A r.(?) p.(Ala864Thr) - VUS g.91779570C>T - CCDC88C(NM_001080414.3):c.2590G>A (p.A864T), CCDC88C(NM_001080414.4):c.2590G>A (p.(Ala864Thr)) - CCDC88C_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2592C>T r.(?) p.(Ala864=) - likely benign g.91779568G>A g.91313224G>A CCDC88C(NM_001080414.3):c.2592C>T (p.A864=) - CCDC88C_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2612C>T r.(?) p.(Ala871Val) - likely benign g.91779548G>A g.91313204G>A CCDC88C(NM_001080414.3):c.2612C>T (p.A871V) - CCDC88C_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2613G>A r.(?) p.(=) - likely benign g.91779547C>T - CCDC88C(NM_001080414.4):c.2613G>A (p.A871=) - CCDC88C_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2632C>T r.(?) p.(Arg878Cys) - VUS g.91779528G>A - CCDC88C(NM_001080414.4):c.2632C>T (p.R878C) - CCDC88C_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2803C>G r.(?) p.(Leu935Val) - VUS g.91776264G>C g.91309920G>C CCDC88C(NM_001080414.3):c.2803C>G (p.(Leu935Val)) - CCDC88C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3007-3T>C r.spl? p.? - VUS g.91773573A>G g.91307229A>G CCDC88C(NM_001080414.3):c.3007-3T>C (p.?) - CCDC88C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3009A>G r.(?) p.(Leu1003=) - benign g.91773568T>C g.91307224T>C CCDC88C(NM_001080414.4):c.3009A>G (p.L1003=) - CCDC88C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3028C>T r.(?) p.(Leu1010Phe) - VUS g.91773549G>A - CCDC88C(NM_001080414.4):c.3028C>T (p.L1010F) - CCDC88C_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3040C>G r.(?) p.(Gln1014Glu) - likely benign g.91773537G>C g.91307193G>C CCDC88C(NM_001080414.3):c.3040C>G (p.Q1014E) - CCDC88C_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3083C>T r.(?) p.(Ala1028Val) - benign g.91773494G>A g.91307150G>A CCDC88C(NM_001080414.4):c.3083C>T (p.A1028V) - CCDC88C_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3170A>G r.(?) p.(Asp1057Gly) - VUS g.91773407T>C - CCDC88C(NM_001080414.3):c.3170A>G (p.(Asp1057Gly)) - CCDC88C_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3190C>T r.(?) p.(Arg1064Trp) - VUS g.91773387G>A - CCDC88C(NM_001080414.3):c.3190C>T (p.(Arg1064Trp)) - CCDC88C_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3202G>T r.(?) p.(Ala1068Ser) - likely benign g.91772264C>A g.91305920C>A CCDC88C(NM_001080414.3):c.3202G>T (p.A1068S, p.(Ala1068Ser)) - CCDC88C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3202G>T r.(?) p.(Ala1068Ser) - likely benign g.91772264C>A g.91305920C>A CCDC88C(NM_001080414.3):c.3202G>T (p.A1068S, p.(Ala1068Ser)) - CCDC88C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3260A>G r.(?) p.(Asn1087Ser) - likely benign g.91772206T>C g.91305862T>C CCDC88C(NM_001080414.3):c.3260A>G (p.N1087S) - CCDC88C_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3262G>A r.(?) p.(Val1088Met) - likely benign g.91772204C>T g.91305860C>T CCDC88C(NM_001080414.3):c.3262G>A (p.(Val1088Met)) - CCDC88C_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3357+10G>A r.(=) p.(=) - VUS g.91772099C>T - CCDC88C(NM_001080414.4):c.3357+10G>A - CCDC88C_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3358-10C>G r.(=) p.(=) - likely benign g.91770332G>C g.91303988G>C CCDC88C(NM_001080414.3):c.3358-10C>G - CCDC88C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3370A>G r.(?) p.(Thr1124Ala) - VUS g.91770310T>C - CCDC88C(NM_001080414.3):c.3370A>G (p.T1124A) - CCDC88C_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3418C>T r.(?) p.(Gln1140Ter) - likely pathogenic g.91770262G>A g.91303918G>A CCDC88C(NM_001080414.4):c.3418C>T (p.Q1140*) - CCDC88C_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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