All variants in the CP gene

Information The variants shown are described using the NM_000096.3 transcript reference sequence.

184 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.6G>A r.(?) p.(Lys2=) - likely benign g.148939574C>T g.149221787C>T CP(NM_000096.3):c.6G>A (p.K2=) - CP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.70T>C r.(?) p.(Tyr24His) - VUS g.148939510A>G - CP(NM_000096.4):c.70T>C (p.Y24H) - CP_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.93G>A r.(?) p.(Thr31=) - likely benign g.148939487C>T g.149221700C>T CP(NM_000096.3):c.93G>A (p.T31=) - CP_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.146C>T r.(?) p.(Thr49Met) - likely benign g.148939434G>A g.149221647G>A CP(NM_000096.4):c.146C>T (p.T49M) - CP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.164A>G r.(?) p.(Tyr55Cys) - likely pathogenic g.148930468T>C - - - CP_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.188T>C r.(?) p.(Ile63Thr) - VUS g.148930444A>G g.149212657A>G CP(NM_000096.4):c.188T>C (p.I63T) - CP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.247A>T r.(?) p.(Thr83Ser) - likely benign g.148930385T>A - CP(NM_000096.3):c.247A>T (p.T83S) - CP_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.249T>C r.(?) p.(Thr83=) - likely benign g.148930383A>G g.149212596A>G CP(NM_000096.3):c.249T>C (p.T83=) - CP_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.301A>G r.(?) p.(Thr101Ala) - likely benign g.148930331T>C g.149212544T>C CP(NM_000096.3):c.301A>G (p.T101A) - CP_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.322C>T r.(?) p.(His108Tyr) - likely benign g.148930310G>A g.149212523G>A CP(NM_000096.4):c.322C>T (p.H108Y) - CP_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.347C>A r.(?) p.(Pro116His) - likely benign g.148930285G>T g.149212498G>T CP(NM_000096.3):c.347C>A (p.P116H) - CP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.375T>A r.(?) p.(Thr125=) - likely benign g.148930257A>T g.149212470A>T CP(NM_000096.4):c.375T>A (p.T125=) - CP_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.394+16G>A r.(=) p.(=) - likely benign g.148930222C>T - - - CP_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.394+19G>A r.(=) p.(=) - likely benign g.148930219C>T g.149212432C>T CP(NM_000096.4):c.394+19G>A - CP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.394+20C>T r.(=) p.(=) - benign g.148930218G>A g.149212431G>A CP(NM_000096.3):c.394+20C>T, CP(NM_000096.4):c.394+20C>T - CP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.394+20C>T r.(=) p.(=) - benign g.148930218G>A g.149212431G>A CP(NM_000096.3):c.394+20C>T, CP(NM_000096.4):c.394+20C>T - CP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.394+20C>T r.(=) p.(=) - benign g.148930218G>A g.149212431G>A CP(NM_000096.3):c.394+20C>T, CP(NM_000096.4):c.394+20C>T - CP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.494A>G r.(?) p.(Gln165Arg) - VUS g.148928067T>C g.149210280T>C - - CP_000111 - PubMed: Fasham 2023 - - Germline - - - - - Johan den Dunnen
-?/. - c.516C>A r.(?) p.(Gly172=) - likely benign g.148928045G>T g.149210258G>T CP(NM_000096.3):c.516C>A (p.G172=) - CP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.782-14C>T r.(=) p.(=) - benign g.148925418G>A g.149207631G>A CP(NM_000096.3):c.782-14C>T, CP(NM_000096.4):c.782-14C>T - CP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.782-14C>T r.(=) p.(=) - benign g.148925418G>A g.149207631G>A CP(NM_000096.3):c.782-14C>T, CP(NM_000096.4):c.782-14C>T - CP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.782-14C>T r.(=) p.(=) - benign g.148925418G>A g.149207631G>A CP(NM_000096.3):c.782-14C>T, CP(NM_000096.4):c.782-14C>T - CP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.782-9G>T r.(=) p.(=) - likely benign g.148925413C>A g.149207626C>A CP(NM_000096.3):c.782-9G>T - CP_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.788A>G r.(?) p.(Asn263Ser) - VUS g.148925398T>C g.149207611T>C CP(NM_000096.3):c.788A>G (p.N263S), CP(NM_000096.4):c.788A>G (p.N263S) - CP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.788A>G r.(?) p.(Asn263Ser) - VUS g.148925398T>C g.149207611T>C CP(NM_000096.3):c.788A>G (p.N263S), CP(NM_000096.4):c.788A>G (p.N263S) - CP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.788A>G r.(?) p.(Asn263Ser) - VUS g.148925398T>C - CP(NM_000096.3):c.788A>G (p.N263S), CP(NM_000096.4):c.788A>G (p.N263S) - CP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.878A>G r.(?) p.(Asp293Gly) - VUS g.148925308T>C - CP(NM_000096.4):c.878A>G (p.D293G) - CP_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.929G>A r.(?) p.(Arg310His) - VUS g.148925257C>T g.149207470C>T CP(NM_000096.3):c.929G>A (p.R310H) - CP_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.929G>A r.(?) p.(Arg310His) - VUS g.148925257C>T - CP(NM_000096.3):c.929G>A (p.R310H) - CP_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.938C>T r.(?) p.(Thr313Ile) - VUS g.148925248G>A g.149207461G>A CP(NM_000096.3):c.938C>T (p.T313I, p.(Thr313Ile)), CP(NM_000096.4):c.938C>T (p.T313I) - CP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.938C>T r.(?) p.(Thr313Ile) - likely benign g.148925248G>A g.149207461G>A CP(NM_000096.3):c.938C>T (p.T313I, p.(Thr313Ile)), CP(NM_000096.4):c.938C>T (p.T313I) - CP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.938C>T r.(?) p.(Thr313Ile) - likely benign g.148925248G>A g.149207461G>A CP(NM_000096.3):c.938C>T (p.T313I, p.(Thr313Ile)), CP(NM_000096.4):c.938C>T (p.T313I) - CP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.938C>T r.(?) p.(Thr313Ile) - likely benign g.148925248G>A g.149207461G>A CP(NM_000096.3):c.938C>T (p.T313I, p.(Thr313Ile)), CP(NM_000096.4):c.938C>T (p.T313I) - CP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1038C>T r.(?) p.(Ala346=) - likely benign g.148924125G>A g.149206338G>A CP(NM_000096.3):c.1038C>T (p.A346=) - CP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1099C>T r.(?) p.(Arg367Cys) - likely benign g.148924064G>A g.149206277G>A CP(NM_000096.4):c.1099C>T (p.R367C) - CP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1099C>T r.(?) p.(Arg367Cys) - likely benign g.148924064G>A - CP(NM_000096.4):c.1099C>T (p.R367C) - CP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1104G>C r.(?) p.(Gly368=) - likely benign g.148924059C>G g.149206272C>G CP(NM_000096.3):c.1104G>C (p.G368=), CP(NM_000096.4):c.1104G>C (p.G368=) - CP_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1104G>C r.(?) p.(Gly368=) - likely benign g.148924059C>G - CP(NM_000096.3):c.1104G>C (p.G368=), CP(NM_000096.4):c.1104G>C (p.G368=) - CP_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1132G>A r.(?) p.(Ala378Thr) - VUS g.148924031C>T g.149206244C>T CP(NM_000096.4):c.1132G>A (p.A378T) - CP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1132G>A r.(?) p.(Ala378Thr) - VUS g.148924031C>T - CP(NM_000096.4):c.1132G>A (p.A378T) - CP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1209-15T>A r.(=) p.(=) - likely benign g.148920043A>T g.149202256A>T CP(NM_000096.4):c.1209-15T>A - CP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1209-15T>A r.(=) p.(=) - likely benign g.148920043A>T - CP(NM_000096.4):c.1209-15T>A - CP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1217C>A r.(?) p.(Ala406Glu) - likely benign g.148920020G>T g.149202233G>T CP(NM_000096.3):c.1217C>A (p.A406E) - CP_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1258T>C r.(?) p.(Tyr420His) - VUS g.148919979A>G - - - CP_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1275T>C r.(?) p.(Tyr425=) - likely benign g.148919962A>G g.149202175A>G CP(NM_000096.3):c.1275T>C (p.Y425=), CP(NM_000096.4):c.1275T>C (p.Y425=) - CP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1275T>C r.(?) p.(Tyr425=) - benign g.148919962A>G g.149202175A>G CP(NM_000096.3):c.1275T>C (p.Y425=), CP(NM_000096.4):c.1275T>C (p.Y425=) - CP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1275T>C r.(?) p.(Tyr425=) - likely benign g.148919962A>G - CP(NM_000096.3):c.1275T>C (p.Y425=), CP(NM_000096.4):c.1275T>C (p.Y425=) - CP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1276C>A r.(?) p.(Arg426Ser) - likely benign g.148919961G>T - CP(NM_000096.3):c.1276C>A (p.R426S) - CP_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1348+9T>C r.(=) p.(=) - likely benign g.148919880A>G g.149202093A>G CP(NM_000096.3):c.1348+9T>C, CP(NM_000096.4):c.1348+9T>C - CP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1348+9T>C r.(=) p.(=) - benign g.148919880A>G g.149202093A>G CP(NM_000096.3):c.1348+9T>C, CP(NM_000096.4):c.1348+9T>C - CP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1349-13T>C r.(=) p.(=) - likely benign g.148917664A>G g.149199877A>G CP(NM_000096.4):c.1349-13T>C - CP_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1353T>C r.(?) p.(Pro451=) - likely benign g.148917647A>G g.149199860A>G CP(NM_000096.4):c.1353T>C (p.P451=) - CP_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1430C>T r.(?) p.(Pro477Leu) - likely benign g.148917570G>A g.149199783G>A CP(NM_000096.4):c.1430C>T (p.P477L) - CP_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1430C>T r.(?) p.(Pro477Leu) - likely benign g.148917570G>A g.149199783G>A CP(NM_000096.4):c.1430C>T (p.P477L) - CP_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1430C>T r.(?) p.(Pro477Leu) - likely benign g.148917570G>A g.149199783G>A CP(NM_000096.4):c.1430C>T (p.P477L) - CP_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1458C>T r.(?) p.(Asn486=) - likely benign g.148917542G>A g.149199755G>A CP(NM_000096.3):c.1458C>T (p.N486=) - CP_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1493A>G r.(?) p.(Gln498Arg) - likely benign g.148917507T>C g.149199720T>C CP(NM_000096.3):c.1493A>G (p.Q498R) - CP_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1501A>C r.(?) p.(Ser501Arg) - likely benign g.148917499T>G g.149199712T>G CP(NM_000096.4):c.1501A>C (p.S501R) - CP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1594C>G r.(?) p.(Pro532Ala) - VUS g.148916273G>C - CP(NM_000096.3):c.1594C>G (p.P532A) - CP_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1632= r.(=) p.(Asp544=) - benign g.148916235T>A g.149198448T>A CP(NM_000096.3):c.1632A>T (p.E544D), CP(NM_000096.4):c.1632A>T (p.E544D) - CP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1632= r.(=) p.(Asp544=) - benign g.148916235T>A g.149198448T>A CP(NM_000096.3):c.1632A>T (p.E544D), CP(NM_000096.4):c.1632A>T (p.E544D) - CP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1632= r.(=) p.(Asp544=) - benign g.148916235T>A g.149198448T>A CP(NM_000096.3):c.1632A>T (p.E544D), CP(NM_000096.4):c.1632A>T (p.E544D) - CP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1652C>T r.(?) p.(Thr551Ile) - benign g.148916215G>A g.149198428G>A CP(NM_000096.3):c.1652C>T (p.T551I), CP(NM_000096.4):c.1652C>T (p.T551I) - CP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1652C>T r.(?) p.(Thr551Ile) - benign g.148916215G>A g.149198428G>A CP(NM_000096.3):c.1652C>T (p.T551I), CP(NM_000096.4):c.1652C>T (p.T551I) - CP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1652C>T r.(?) p.(Thr551Ile) - benign g.148916215G>A g.149198428G>A CP(NM_000096.3):c.1652C>T (p.T551I), CP(NM_000096.4):c.1652C>T (p.T551I) - CP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1652C>T r.(?) p.(Thr551Ile) - likely benign g.148916215G>A g.149198428G>A CP(NM_000096.3):c.1652C>T (p.T551I), CP(NM_000096.4):c.1652C>T (p.T551I) - CP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1735T>C r.(?) p.(Tyr579His) - likely benign g.148905968A>G - CP(NM_000096.3):c.1735T>C (p.Y579H) - CP_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1818G>A r.(?) p.(Gln606=) - likely benign g.148905885C>T g.149188098C>T CP(NM_000096.4):c.1818G>A (p.Q606=) - CP_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/? 10i c.1864+5G>A r.spl? p.? - VUS g.148905834C>T g.149188047C>T - - CP_000001 splice site mutation; amplification of cDNA fragments beyond exon 9 was not successful. - - - Germline yes - - - - Alisdair McNeill
-?/. - c.1945G>A r.(?) p.(Ala649Thr) - likely benign g.148904439C>T g.149186652C>T CP(NM_000096.3):c.1945G>A (p.A649T), CP(NM_000096.4):c.1945G>A (p.A649T) - CP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1945G>A r.(?) p.(Ala649Thr) - likely benign g.148904439C>T g.149186652C>T CP(NM_000096.3):c.1945G>A (p.A649T), CP(NM_000096.4):c.1945G>A (p.A649T) - CP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1948G>A r.(?) p.(Gly650Arg) - pathogenic g.148904436C>T g.149186649C>T CP(NM_000096.3):c.1948G>A (p.G650R) - CP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1950A>C r.(?) p.(Gly650=) - benign g.148904434T>G g.149186647T>G CP(NM_000096.3):c.1950A>C (p.G650=), CP(NM_000096.4):c.1950A>C (p.G650=) - CP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1950A>C r.(?) p.(Gly650=) - benign g.148904434T>G g.149186647T>G CP(NM_000096.3):c.1950A>C (p.G650=), CP(NM_000096.4):c.1950A>C (p.G650=) - CP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1950A>C r.(?) p.(Gly650=) - benign g.148904434T>G g.149186647T>G CP(NM_000096.3):c.1950A>C (p.G650=), CP(NM_000096.4):c.1950A>C (p.G650=) - CP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1950A>C r.(=) p.(=) - likely benign g.148904434T>G g.149186647T>G - - CP_000027 175 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1053709 Germline - 175/2795 individuals - - - Mohammed Faruq
-?/. - c.1950A>C r.(=) p.(=) - likely benign g.148904434T>G g.149186647T>G - - CP_000027 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1053709 Germline - 4/2795 individuals - - - Mohammed Faruq
?/. - c.1960G>A r.(?) p.(Asp654Asn) - VUS g.148904424C>T g.149186637C>T CP(NM_000096.4):c.1960G>A (p.D654N) - CP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2139T>C r.(?) p.(=) - likely benign g.148903172A>G - - - CP_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2158C>T r.(?) p.(Arg720Trp) - VUS g.148903153G>A g.149185366G>A CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W) - CP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2158C>T r.(?) p.(Arg720Trp) - VUS g.148903153G>A g.149185366G>A CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W) - CP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.2158C>T r.(?) p.(Arg720Trp) - VUS g.148903153G>A - CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W) - CP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2158C>T r.(?) p.(Arg720Trp) - VUS g.148903153G>A - CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W) - CP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2158C>T r.(?) p.(Arg720Trp) - VUS g.148903153G>A - CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W) - CP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2191G>C r.(?) p.(Glu731Gln) - likely benign g.148903120C>G g.149185333C>G CP(NM_000096.4):c.2191G>C (p.E731Q) - CP_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2285+9C>T r.(=) p.(=) - likely benign g.148903017G>A - CP(NM_000096.3):c.2285+9C>T - CP_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2286-15del r.(=) p.(=) - benign g.148901407del g.149183620del CP(NM_000096.3):c.2286-15delG, CP(NM_000096.4):c.2286-15delG - CP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2286-15del r.(=) p.(=) - benign g.148901407del g.149183620del CP(NM_000096.3):c.2286-15delG, CP(NM_000096.4):c.2286-15delG - CP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.2286-15del r.(=) p.(=) - benign g.148901407del - CP(NM_000096.3):c.2286-15delG, CP(NM_000096.4):c.2286-15delG - CP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2286-15G>T r.(=) p.(=) - likely benign g.148901407C>A g.149183620C>A CP(NM_000096.4):c.2286-15G>T - CP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2286-15G>T r.(=) p.(=) - benign g.148901407C>A g.149183620C>A CP(NM_000096.4):c.2286-15G>T - CP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2286-15_2286-14del r.(=) p.(=) - likely benign g.148901407_148901408del g.149183620_149183621del CP(NM_000096.4):c.2286-15_2286-14delGT - CP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2286-12T>G r.(=) p.(=) - likely benign g.148901404A>C g.149183617A>C CP(NM_000096.4):c.2286-12T>G - CP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.2286-12T>G r.(=) p.(=) - benign g.148901404A>C g.149183617A>C CP(NM_000096.4):c.2286-12T>G - CP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2286-4del r.spl? p.? - benign g.148901406del g.149183619del CP(NM_000096.4):c.2286-4delT - CP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.2286-4dup r.spl? p.? - benign g.148901406dup g.149183619dup CP(NM_000096.3):c.2286-4dupT, CP(NM_000096.4):c.2286-4dupT - CP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2286-4dup r.spl? p.? - benign g.148901406dup g.149183619dup CP(NM_000096.3):c.2286-4dupT, CP(NM_000096.4):c.2286-4dupT - CP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2286-4dup r.spl? p.? - likely benign g.148901406dup - CP(NM_000096.3):c.2286-4dupT, CP(NM_000096.4):c.2286-4dupT - CP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2287G>T r.(?) p.(Val763Phe) - likely benign g.148901391C>A g.149183604C>A CP(NM_000096.4):c.2287G>T (p.V763F) - CP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2310G>A r.(?) p.(Lys770=) - likely benign g.148901368C>T g.149183581C>T CP(NM_000096.3):c.2310G>A (p.K770=), CP(NM_000096.4):c.2310G>A (p.K770=) - CP_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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