Unique variants in gene CDK5RAP2

Information The variants shown are described using the NM_018249.4 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. 3 - c.-19T>C benign r.(?) p.(=) g.123342275A>G - CDK5RAP2(NM_018249.5):c.-19T>C, CDK5RAP2(NR_073556.1):n.174T>C - CDK5RAP2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 3 - c.-3G>T benign r.(?) p.(=) g.123342259C>A - CDK5RAP2(NM_018249.5):c.-3G>T, CDK5RAP2(NR_073556.1):n.190G>T - CDK5RAP2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.51C>T likely benign r.(?) p.(=) g.123342206G>A - CDK5RAP2(NM_018249.5):c.51C>T (p.S17=) - CDK5RAP2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.59+1G>T pathogenic r.spl? p.? g.123342197C>A - CDK5RAP2(NM_018249.5):c.59+1G>T - CDK5RAP2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.128-147A>G - r.(=) p.(=) g.123330813T>C - - - CDK5RAP2_000002 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - c.239G>A VUS r.(?) p.(Arg80His) g.123313137C>T - CDK5RAP2(NM_018249.5):c.239G>A (p.R80H) - CDK5RAP2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.307-208A>G - r.(=) p.(=) g.123308276T>C - - - CDK5RAP2_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
-/. 1 - c.307-4G>A benign r.spl? p.? g.123308072C>T - CDK5RAP2(NM_018249.5):c.307-4G>A - CDK5RAP2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.480A>C benign r.(?) p.(=) g.123301346T>G - CDK5RAP2(NM_018249.5):c.480A>C (p.L160=) - CDK5RAP2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-/. 1 - c.507+12A>G benign r.(=) p.(=) g.123301307T>C - CDK5RAP2(NM_018249.5):c.507+12A>G - CDK5RAP2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.524_528del VUS r.(?) p.(Gln175Argfs*42) g.123298784_123298788del - CDK5RAP2(NM_018249.5):c.524_528delAGGCA (p.Q175Rfs*42) - CDK5RAP2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.660C>A VUS r.(?) p.(Asp220Glu) g.123298652G>T - CDK5RAP2(NM_018249.5):c.660C>A (p.D220E) - CDK5RAP2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.817G>A VUS r.(?) p.(Glu273Lys) g.123292264C>T - CDK5RAP2(NM_001011649.1):c.817G>A (p.(Glu273Lys)) - CDK5RAP2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.865G>C benign r.(?) p.(Glu289Gln) g.123291036C>G - CDK5RAP2(NM_018249.5):c.865G>C (p.E289Q) - CDK5RAP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.879+26G>T benign r.(=) p.(=) g.123290996C>A - CDK5RAP2(NM_018249.5):c.879+26G>T - CDK5RAP2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.880-7A>G benign r.(=) p.(=) g.123290210T>C - CDK5RAP2(NM_018249.5):c.880-7A>G - CDK5RAP2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.951del pathogenic r.(?) p.(Asp317Glufs*7) g.123290132del - CDK5RAP2(NM_018249.5):c.951delT (p.D317Efs*7) - CDK5RAP2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.985T>A likely benign r.(?) p.(Ser329Thr) g.123290098A>T - CDK5RAP2(NM_001011649.1):c.985T>A (p.(Ser329Thr)) - CDK5RAP2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.986C>A likely benign r.(?) p.(Ser329*) g.123290097G>T - CDK5RAP2(NM_001011649.1):c.986C>A (p.(Ser329Ter)) - CDK5RAP2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.991G>A likely benign r.(?) p.(Glu331Lys) g.123290092C>T - CDK5RAP2(NM_001011649.1):c.991G>A (p.(Glu331Lys)) - CDK5RAP2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1093-27A>G benign r.(=) p.(=) g.123280950T>C - CDK5RAP2(NM_018249.5):c.1093-27A>G - CDK5RAP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1093-14G>A benign r.(=) p.(=) g.123280937C>T - CDK5RAP2(NM_018249.5):c.1093-14G>A - CDK5RAP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1093-2A>G pathogenic r.spl? p.? g.123280925T>C - CDK5RAP2(NM_018249.5):c.1093-2A>G - CDK5RAP2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1139C>T likely benign r.(?) p.(Ser380Leu) g.123280877G>A - CDK5RAP2(NM_018249.5):c.1139C>T (p.S380L) - CDK5RAP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1149_1153dup pathogenic r.(?) p.(Ser385Cysfs*26) g.123280871_123280875dup - CDK5RAP2(NM_018249.5):c.1149_1153dupGCGCT (p.S385Cfs*26) - CDK5RAP2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1218G>A likely benign r.(?) p.(=) g.123280798C>T - CDK5RAP2(NM_018249.5):c.1218G>A (p.Q406=) - CDK5RAP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1339C>G VUS r.(?) p.(Arg447Gly) g.123253728G>C - CDK5RAP2(NM_001011649.1):c.1339C>G (p.(Arg447Gly)) - CDK5RAP2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1376del VUS r.(?) p.(Asn459Ilefs*7) g.123253694del - CDK5RAP2(NM_001011649.1):c.1376del (p.(Asn459IlefsTer7)) - CDK5RAP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1379G>A VUS r.(?) p.(Arg460His) g.123253688C>T - CDK5RAP2(NM_001011649.1):c.1379G>A (p.(Arg460His)) - CDK5RAP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1406A>G likely benign r.(?) p.(Asn469Ser) g.123253661T>C - CDK5RAP2(NM_018249.5):c.1406A>G (p.N469S) - CDK5RAP2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1483-29T>G benign r.(=) p.(=) g.123249744A>C - CDK5RAP2(NM_018249.5):c.1483-29T>G - CDK5RAP2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1483-27T>G benign r.(=) p.(=) g.123249742A>C - CDK5RAP2(NM_018249.5):c.1483-27T>G - CDK5RAP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1498G>C VUS r.(?) p.(Asp500His) g.123249700C>G - CDK5RAP2(NM_018249.5):c.1498G>C (p.D500H) - CDK5RAP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1727+15C>G benign r.(=) p.(=) g.123239613G>C - CDK5RAP2(NM_018249.5):c.1727+15C>G - CDK5RAP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1728-2A>C pathogenic r.spl? p.? g.123234158T>G - CDK5RAP2(NM_018249.5):c.1728-2A>C - CDK5RAP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1859-6G>T likely benign r.(=) p.(=) g.123232504C>A - CDK5RAP2(NM_001011649.1):c.1859-6G>T (p.(=)) - CDK5RAP2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1865C>G ACMG: 4 r.(?) p.(Ser622*) g.123232492G>C - - - CDK5RAP2_000005 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
-/. 1 - c.2107-82del benign r.(=) p.(=) g.123223037del - CDK5RAP2(NM_018249.5):c.2107-82delA - CDK5RAP2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2107-82dup benign r.(=) p.(=) g.123223037dup - CDK5RAP2(NM_018249.5):c.2107-82dupA - CDK5RAP2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2255C>T VUS r.(?) p.(Thr752Met) g.123220848G>A - CDK5RAP2(NM_018249.5):c.2255C>T (p.T752M) - CDK5RAP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.2274T>C benign r.(?) p.(=) g.123220829A>G - CDK5RAP2(NM_018249.5):c.2274T>C (p.D758=) - CDK5RAP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.2289C>T likely benign r.(?) p.(=) g.123220814G>A - CDK5RAP2(NM_018249.5):c.2289C>T (p.H763=) - CDK5RAP2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2294C>G VUS r.(?) p.(Pro765Arg) g.123220809G>C - CDK5RAP2(NM_018249.5):c.2294C>G (p.P765R) - CDK5RAP2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2643C>T likely benign r.(?) p.(=) g.123215884G>A - CDK5RAP2(NM_018249.5):c.2643C>T (p.D881=) - CDK5RAP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2655C>G likely benign r.(?) p.(Phe885Leu) g.123215872G>C - CDK5RAP2(NM_018249.5):c.2655C>G (p.F885L) - CDK5RAP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2809C>T VUS r.(?) p.(Arg937Cys) g.123210389G>A - CDK5RAP2(NM_018249.5):c.2809C>T (p.R937C) - CDK5RAP2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3002C>T likely benign r.(?) p.(Thr1001Met) g.123210196G>A - CDK5RAP2(NM_018249.5):c.3002C>T (p.T1001M) - CDK5RAP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3003G>A likely benign r.(?) p.(=) g.123210195C>T - CDK5RAP2(NM_018249.5):c.3003G>A (p.T1001=) - CDK5RAP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3006C>G likely benign r.(?) p.(=) g.123210192G>C - CDK5RAP2(NM_018249.5):c.3006C>G (p.P1002=) - CDK5RAP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.3065G>A benign r.(?) p.(Gly1022Glu) g.123205981C>T - CDK5RAP2(NM_018249.5):c.3065G>A (p.G1022E) - CDK5RAP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-/. 2 - c.3134G>C benign r.(?) p.(Arg1045Thr) g.123205912C>G - CDK5RAP2(NM_018249.5):c.3134G>C (p.R1045T) - CDK5RAP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.3278G>C likely benign r.(?) p.(Ser1093Thr) g.123202121C>G - CDK5RAP2(NM_018249.5):c.3278G>C (p.S1093T) - CDK5RAP2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3558C>T likely benign r.(?) p.(=) g.123201841G>A - CDK5RAP2(NM_018249.5):c.3558C>T (p.L1186=) - CDK5RAP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.3851T>A pathogenic r.(?) p.(Leu1284*) g.123199677A>T - - - CDK5RAP2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3866A>T VUS r.(?) p.(Asp1289Val) g.123199662T>A - CDK5RAP2(NM_018249.5):c.3866A>T (p.D1289V) - CDK5RAP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.4041G>A benign r.(?) p.(=) g.123182202C>T - CDK5RAP2(NM_018249.5):c.4041G>A (p.L1347=) - CDK5RAP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.4259G>T VUS r.(?) p.(Arg1420Leu) g.123177356C>A - CDK5RAP2(NM_018249.5):c.4259G>T (p.R1420L) - CDK5RAP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.4325C>T likely benign r.(?) p.(Ser1442Leu) g.123173725G>A - CDK5RAP2(NM_018249.5):c.4325C>T (p.S1442L) - CDK5RAP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.4415-161A>G - r.(=) p.(=) g.123171755T>C - - - CDK5RAP2_000004 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - c.4517A>G VUS r.(?) p.(Glu1506Gly) g.123171492T>C - CDK5RAP2(NM_018249.5):c.4517A>G (p.E1506G) - CDK5RAP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.4546G>T VUS r.(?) p.(Glu1516*) g.123171463C>A - CDK5RAP2(NM_001011649.1):c.4546G>T (p.?) - CDK5RAP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.4605-11G>C likely benign r.(=) p.(=) g.123170757C>G - CDK5RAP2(NM_018249.5):c.4605-11G>C - CDK5RAP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.4618G>C benign r.(?) p.(Val1540Leu) g.123170733C>G - CDK5RAP2(NM_018249.5):c.4618G>C (p.V1540L) - CDK5RAP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_Rotterdam
?/. 1 - c.4727-192G>C - r.(=) p.(=) g.123169718C>G - - - CDK5RAP2_000003 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.4730C>T likely benign r.(?) p.(Ala1577Val) g.123169523G>A - CDK5RAP2(NM_018249.5):c.4730C>T (p.A1577V) - CDK5RAP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.4879del pathogenic r.(?) p.(Ala1627Glnfs*50) g.123169379del - CDK5RAP2(NM_018249.5):c.4879delG (p.A1627Qfs*50) - CDK5RAP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.4898G>C likely benign r.(?) p.(Gly1633Ala) g.123169355C>G - CDK5RAP2(NM_018249.5):c.4898G>C (p.G1633A) - CDK5RAP2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.4963+1G>A likely pathogenic r.spl? p.? g.123169289C>T - CDK5RAP2(NM_018249.5):c.4963+1G>A - CDK5RAP2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5241C>T likely benign r.(?) p.(=) g.123165150G>A - CDK5RAP2(NM_018249.5):c.5241C>T (p.L1747=) - CDK5RAP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5285C>T likely benign r.(?) p.(Thr1762Ile) g.123165106G>A - CDK5RAP2(NM_001011649.1):c.5048C>T (p.(Thr1683Ile)) - CDK5RAP2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5308-6G>T likely benign r.(=) p.(=) g.123163169C>A - CDK5RAP2(NM_018249.5):c.5308-6G>T - CDK5RAP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.5355G>A likely benign r.(?) p.(=) g.123163116C>T - CDK5RAP2(NM_018249.5):c.5355G>A (p.T1785=) - CDK5RAP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.5362C>A VUS r.(?) p.(Leu1788Met) g.123163109G>T - CDK5RAP2(NM_018249.5):c.5362C>A (p.L1788M) - CDK5RAP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.5418C>T benign r.(?) p.(=) g.123163053G>A - CDK5RAP2(NM_018249.5):c.5418C>T (p.P1806=) - CDK5RAP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-/. 1 - c.5454T>G benign r.(?) p.(Ile1818Met) g.123156914A>C - CDK5RAP2(NM_018249.5):c.5454T>G (p.I1818M) - CDK5RAP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5517G>A likely benign r.(?) p.(=) g.123156851C>T - CDK5RAP2(NM_018249.5):c.5517G>A (p.L1839=) - CDK5RAP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5578T>C likely benign r.(?) p.(=) g.123156790A>G - CDK5RAP2(NM_018249.5):c.5578T>C (p.L1860=) - CDK5RAP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.5578+29C>G benign r.(=) p.(=) g.123156761G>C - CDK5RAP2(NM_018249.5):c.5578+29C>G - CDK5RAP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5602C>T VUS r.(?) p.(Arg1868Trp) g.123152042G>A - CDK5RAP2(NM_018249.5):c.5602C>T (p.R1868W) - CDK5RAP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5662C>G VUS r.(?) p.(Pro1888Ala) g.123151534G>C - CDK5RAP2(NM_018249.5):c.5662C>G (p.P1888A) - CDK5RAP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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