Full data view for gene AHNAK

Information The variants shown are described using the NM_024060.2 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.8A>T r.(?) p.(Lys3Met) Unknown - VUS g.62303563T>A - AHNAK(NM_001620.3):c.8A>T (p.K3M) - AHNAK_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274C>T r.(?) p.(Arg92Cys) Unknown - VUS g.62302543G>A - AHNAK(NM_001620.3):c.274C>T (p.R92C) - AHNAK_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+981G>A r.(=) p.(=) Unknown - VUS g.62301494C>T - AHNAK(NM_001620.3):c.395G>A (p.R132Q) - AHNAK_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+1067A>G r.(=) p.(=) Unknown - likely benign g.62301408T>C - AHNAK(NM_001620.3):c.481A>G (p.(Thr161Ala)) - AHNAK_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+1311C>T r.(=) p.(=) Unknown - VUS g.62301164G>A - AHNAK(NM_001620.3):c.725C>T (p.S242L) - AHNAK_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+1383A>C r.(=) p.(=) Unknown - VUS g.62301092T>G - AHNAK(NM_001620.3):c.797A>C (p.D266A) - AHNAK_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+1680G>T r.(=) p.(=) Unknown - VUS g.62300795C>A - AHNAK(NM_001620.3):c.1094G>T (p.(Gly365Val)) - AHNAK_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+1884A>G r.(=) p.(=) Unknown - likely benign g.62300591T>C g.62533119T>C AHNAK(NM_001620.2):c.1298A>G (p.K433R), AHNAK(NM_001620.3):c.1298A>G (p.(Lys433Arg), p.K433R) - AHNAK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+1884A>G r.(=) p.(=) Unknown - VUS g.62300591T>C - AHNAK(NM_001620.2):c.1298A>G (p.K433R), AHNAK(NM_001620.3):c.1298A>G (p.(Lys433Arg), p.K433R) - AHNAK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+1884A>G r.(=) p.(=) Unknown - likely benign g.62300591T>C - AHNAK(NM_001620.2):c.1298A>G (p.K433R), AHNAK(NM_001620.3):c.1298A>G (p.(Lys433Arg), p.K433R) - AHNAK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+2153C>T r.(=) p.(=) Unknown - VUS g.62300322G>A g.62532850G>A AHNAK(NM_001620.3):c.1567C>T (p.P523S) - AHNAK_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+2176A>G r.(=) p.(=) Unknown - likely benign g.62300299T>C - AHNAK(NM_001620.2):c.1590A>G (p.K530=) - AHNAK_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+2270G>A r.(=) p.(=) Unknown - VUS g.62300205C>T - AHNAK(NM_001620.3):c.1684G>A (p.(Gly562Arg)) - AHNAK_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+2322C>T r.(=) p.(=) Unknown - likely benign g.62300153G>A g.62532681G>A AHNAK(NM_001620.2):c.1736C>T (p.A579V) - AHNAK_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+2933C>A r.(=) p.(=) Unknown - likely benign g.62299542G>T - AHNAK(NM_001620.2):c.2347C>A (p.P783T) - AHNAK_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+3026A>G r.(=) p.(=) Unknown - VUS g.62299449T>C g.62531977T>C AHNAK(NM_001620.3):c.2440A>G (p.K814E) - AHNAK_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+3248C>G r.(=) p.(=) Unknown - VUS g.62299227G>C - AHNAK(NM_001620.3):c.2662C>G (p.P888A) - AHNAK_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+3786T>C r.(=) p.(=) Unknown - VUS g.62298689A>G g.62531217A>G AHNAK(NM_001620.1):c.3200T>C (p.(Met1067Thr)) - AHNAK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+4099C>T r.(=) p.(=) Unknown - likely benign g.62298376G>A - AHNAK(NM_001620.2):c.3513C>T (p.L1171=) - AHNAK_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+4254A>C r.(=) p.(=) Unknown - VUS g.62298221T>G - AHNAK(NM_001620.3):c.3668A>C (p.E1223A) - AHNAK_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+4387C>T r.(=) p.(=) Unknown - likely benign g.62298088G>A g.62530616G>A AHNAK(NM_001620.2):c.3801C>T (p.F1267=) - AHNAK_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+4418C>G r.(=) p.(=) Unknown - VUS g.62298057G>C - AHNAK(NM_001620.3):c.3832C>G (p.L1278V) - AHNAK_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+4568G>A r.(=) p.(=) Unknown - VUS g.62297907C>T g.62530435C>T AHNAK(NM_001620.1):c.3982G>A (p.(Val1328Met)) - AHNAK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+4871G>T r.(=) p.(=) Unknown - likely benign g.62297604C>A g.62530132C>A AHNAK(NM_001620.1):c.4285G>T (p.(Gly1429Cys)) - AHNAK_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+4900A>C r.(=) p.(=) Unknown - VUS g.62297575T>G - AHNAK(NM_001620.3):c.4314A>C (p.K1438N) - AHNAK_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+4940T>C r.(=) p.(=) Unknown - VUS g.62297535A>G - AHNAK(NM_001620.3):c.4354T>C (p.S1452P) - AHNAK_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+5778A>C r.(=) p.(=) Unknown - likely benign g.62296697T>G - AHNAK(NM_001620.2):c.5192A>C (p.(Glu1731Ala)) - AHNAK_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+5999G>C r.(=) p.(=) Unknown - VUS g.62296476C>G - AHNAK(NM_001620.3):c.5413G>C (p.E1805Q) - AHNAK_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+6532G>A r.(=) p.(=) Unknown - VUS g.62295943C>T - AHNAK(NM_001620.3):c.5946G>A (p.M1982I) - AHNAK_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+6761C>G r.(=) p.(=) Unknown - VUS g.62295714G>C - AHNAK(NM_001620.3):c.6175C>G (p.P2059A) - AHNAK_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+6761C>T r.(=) p.(=) Unknown - likely benign g.62295714G>A g.62528242G>A AHNAK(NM_001620.2):c.6175C>T (p.P2059S) - AHNAK_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+7160A>C r.(=) p.(=) Unknown - likely benign g.62295315T>G g.62527843T>G AHNAK(NM_001620.2):c.6574A>C (p.N2192H) - AHNAK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+7163T>C r.(=) p.(=) Unknown - likely benign g.62295312A>G g.62527840A>G AHNAK(NM_001620.2):c.6577T>C (p.L2193=) - AHNAK_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+7303G>A r.(=) p.(=) Unknown - VUS g.62295172C>T - AHNAK(NM_001620.3):c.6717G>A (p.W2239*) - AHNAK_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+7365G>T r.(=) p.(=) Unknown - VUS g.62295110C>A - AHNAK(NM_001620.3):c.6779G>T (p.G2260V) - AHNAK_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+7729_342+7730insTTTTTTTTTT r.(=) p.(=) Unknown - likely benign g.62294748_62294749insAAAAAAAAAA g.62527276_62527277insAAAAAAAAAA AHNAK(NM_001620.1):c.7143_7144insTTTTTTTTTT (p.(Lys2382PhefsTer4)) - AHNAK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+7732A>T r.(=) p.(=) Unknown - likely benign g.62294743T>A g.62527271T>A AHNAK(NM_001620.1):c.7146A>T (p.(Lys2382Asn)) - AHNAK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+7734_342+7747del r.(=) p.(=) Unknown - likely benign g.62294728_62294741del g.62527256_62527269del AHNAK(NM_001620.1):c.7148_7161del (p.(Ala2383AspfsTer29)) - AHNAK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+7749_342+7750insACG r.(=) p.(=) Unknown - likely benign g.62294725_62294726insCGT g.62527253_62527254insCGT AHNAK(NM_001620.1):c.7163_7164insACG (p.(Met2388delinsIleArg)) - AHNAK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+7752_342+7753del r.(=) p.(=) Unknown - likely benign g.62294722_62294723del g.62527250_62527251del AHNAK(NM_001620.1):c.7166_7167del (p.(Pro2389ArgfsTer27)) - AHNAK_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+7758T>A r.(=) p.(=) Unknown - likely benign g.62294717A>T g.62527245A>T AHNAK(NM_001620.1):c.7172T>A (p.(Leu2391His)) - AHNAK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+7759_342+7760insCGA r.(=) p.(=) Unknown - likely benign g.62294715_62294716insTCG g.62527243_62527244insTCG AHNAK(NM_001620.1):c.7173_7174insCGA (p.(Leu2391_Asp2392insArg)) - AHNAK_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+8025G>A r.(=) p.(=) Unknown - VUS g.62294450C>T - AHNAK(NM_001620.2):c.7439G>A (p.G2480D) - AHNAK_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+8550G>T r.(=) p.(=) Unknown - VUS g.62293925C>A - AHNAK(NM_001620.3):c.7964G>T (p.G2655V) - AHNAK_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+8658A>G r.(=) p.(=) Unknown - VUS g.62293817T>C - AHNAK(NM_001620.3):c.8072A>G (p.K2691R) - AHNAK_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+9205C>T r.(=) p.(=) Unknown - VUS g.62293270G>A g.62525798G>A AHNAK(NM_001620.1):c.8619C>T (p.(=)) - AHNAK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+10011A>G r.(=) p.(=) Unknown - likely benign g.62292464T>C g.62524992T>C AHNAK(NM_001620.2):c.9425A>G (p.Q3142R), AHNAK(NM_001620.3):c.9425A>G (p.(Gln3142Arg)) - AHNAK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+10011A>G r.(=) p.(=) Unknown - likely benign g.62292464T>C - AHNAK(NM_001620.2):c.9425A>G (p.Q3142R), AHNAK(NM_001620.3):c.9425A>G (p.(Gln3142Arg)) - AHNAK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+10262C>T r.(=) p.(=) Unknown - VUS g.62292213G>A - AHNAK(NM_001620.3):c.9676C>T (p.L3226F) - AHNAK_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+10479T>G r.(=) p.(=) Unknown - VUS g.62291996A>C - AHNAK(NM_001620.2):c.9893T>G (p.I3298S) - AHNAK_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+10775A>G r.(=) p.(=) Unknown - VUS g.62291700T>C - AHNAK(NM_001620.2):c.10189A>G (p.(Lys3397Glu)) - AHNAK_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+10806T>G r.(=) p.(=) Unknown - VUS g.62291669A>C - AHNAK(NM_001620.3):c.10220T>G (p.F3407C) - AHNAK_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+10996G>T r.(=) p.(=) Unknown - VUS g.62291479C>A - AHNAK(NM_001620.3):c.10410G>T (p.W3470C) - AHNAK_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+11040C>T r.(=) p.(=) Unknown - VUS g.62291435G>A - AHNAK(NM_001620.3):c.10454C>T (p.S3485F) - AHNAK_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+11121T>C r.(=) p.(=) Unknown - likely benign g.62291354A>G - AHNAK(NM_001620.3):c.10535T>C (p.(Ile3512Thr)) - AHNAK_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+11222C>A r.(=) p.(=) Unknown - VUS g.62291253G>T - AHNAK(NM_001620.3):c.10636C>A (p.P3546T) - AHNAK_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+11271A>C r.(=) p.(=) Unknown - VUS g.62291204T>G g.62523732T>G AHNAK(NM_001620.3):c.10685A>C (p.D3562A) - AHNAK_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+11453G>A r.(=) p.(=) Unknown - VUS g.62291022C>T - AHNAK(NM_001620.3):c.10867G>A (p.D3623N) - AHNAK_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+11537G>C r.(=) p.(=) Unknown - VUS g.62290938C>G - AHNAK(NM_001620.2):c.10951G>C (p.(Asp3651His)) - AHNAK_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+11569G>A r.(=) p.(=) Unknown - likely benign g.62290906C>T - AHNAK(NM_001620.2):c.10983G>A (p.(Met3661Ile)) - AHNAK_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+11931A>G r.(=) p.(=) Unknown - likely benign g.62290544T>C g.62523072T>C AHNAK(NM_001620.2):c.11345A>G (p.K3782R) - AHNAK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+12532G>A r.(=) p.(=) Unknown - likely benign g.62289943C>T g.62522471C>T AHNAK(NM_001620.2):c.11946G>A (p.A3982=) - AHNAK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+12586G>A r.(=) p.(=) Unknown - likely benign g.62289889C>T g.62522417C>T AHNAK(NM_001620.2):c.12000G>A (p.K4000=) - AHNAK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+12657C>G r.(=) p.(=) Unknown - VUS g.62289818G>C g.62522346G>C AHNAK(NM_001620.3):c.12071C>G (p.P4024R) - AHNAK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+12920C>G r.(=) p.(=) Unknown - VUS g.62289555G>C - AHNAK(NM_001620.2):c.12334C>G (p.L4112V) - AHNAK_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+13127G>A r.(=) p.(=) Unknown - VUS g.62289348C>T g.62521876C>T AHNAK(NM_001620.3):c.12541G>A (p.G4181S) - AHNAK_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+13403G>A r.(=) p.(=) Unknown - VUS g.62289072C>T g.62521600C>T AHNAK(NM_001620.3):c.12817G>A (p.G4273S) - AHNAK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+13599T>G r.(=) p.(=) Unknown - VUS g.62288876A>C g.62521404A>C AHNAK(NM_001620.2):c.13013T>G (p.V4338G) - AHNAK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+13836C>T r.(=) p.(=) Unknown - VUS g.62288639G>A g.62521167G>A AHNAK(NM_001620.1):c.13250C>T (p.(Pro4417Leu)) - AHNAK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+13958A>G r.(=) p.(=) Unknown - VUS g.62288517T>C - AHNAK(NM_001620.3):c.13372A>G (p.K4458E) - AHNAK_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+14133G>A r.(=) p.(=) Unknown - likely benign g.62288342C>T - AHNAK(NM_001620.3):c.13547G>A (p.(Ser4516Asn)) - AHNAK_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+14530G>T r.(=) p.(=) Unknown - VUS g.62287945C>A - AHNAK(NM_001620.2):c.13944G>T (p.(Trp4648Cys)) - AHNAK_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+14933G>A r.(=) p.(=) Unknown - likely benign g.62287542C>T - AHNAK(NM_001620.3):c.14347G>A (p.(Val4783Met)) - AHNAK_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+14957C>A r.(=) p.(=) Unknown - likely benign g.62287518G>T g.62520046G>T AHNAK(NM_001620.2):c.14371C>A (p.P4791T) - AHNAK_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+15021C>T r.(=) p.(=) Unknown - VUS g.62287454G>A - AHNAK(NM_001620.3):c.14435C>T (p.S4812L) - AHNAK_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+15073C>T r.(=) p.(=) Unknown - likely benign g.62287402G>A g.62519930G>A AHNAK(NM_001620.2):c.14487C>T (p.D4829=) - AHNAK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+15090C>T r.(=) p.(=) Unknown - VUS g.62287385G>A g.62519913G>A AHNAK(NM_001620.2):c.14504C>T (p.P4835L), AHNAK(NM_001620.3):c.14504C>T (p.P4835L) - AHNAK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+15090C>T r.(=) p.(=) Unknown - VUS g.62287385G>A g.62519913G>A AHNAK(NM_001620.2):c.14504C>T (p.P4835L), AHNAK(NM_001620.3):c.14504C>T (p.P4835L) - AHNAK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+15368C>G r.(=) p.(=) Unknown - VUS g.62287107G>C - AHNAK(NM_001620.3):c.14782C>G (p.P4928A) - AHNAK_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+15390C>T r.(=) p.(=) Unknown - VUS g.62287085G>A - AHNAK(NM_001620.3):c.14804C>T (p.P4935L) - AHNAK_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+15999C>T r.(=) p.(=) Unknown - likely benign g.62286476G>A g.62519004G>A AHNAK(NM_001620.2):c.15413C>T (p.A5138V) - AHNAK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+16786C>G r.(=) p.(=) Unknown - VUS g.62285689G>C g.62518217G>C AHNAK(NM_001620.2):c.16200C>G (p.S5400R) - AHNAK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+16854A>G r.(=) p.(=) Unknown - likely benign g.62285621T>C - AHNAK(NM_001620.3):c.16268A>G (p.(Asn5423Ser)) - AHNAK_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+17153A>T r.(=) p.(=) Unknown - VUS g.62285322T>A - AHNAK(NM_001620.3):c.16567A>T (p.I5523F) - AHNAK_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+17409T>G r.(=) p.(=) Unknown - VUS g.62285066A>C - AHNAK(NM_001620.3):c.16823T>G (p.L5608W) - AHNAK_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+17597C>T r.(=) p.(=) Unknown - VUS g.62284878G>A - AHNAK(NM_001620.3):c.17011C>T (p.R5671C) - AHNAK_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342+17973C>T r.(=) p.(=) Unknown - likely benign g.62284502G>A - AHNAK(NM_001620.2):c.17387C>T (p.(Thr5796Met)) - AHNAK_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+18060T>C r.(=) p.(=) Unknown - VUS g.62284415A>G - AHNAK(NM_001620.3):c.17474T>C (p.(Phe5825Ser)) - AHNAK_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342+18252A>T r.(=) p.(=) Unknown - VUS g.62284223T>A g.62516751T>A AHNAK(NM_001620.2):c.17666A>T (p.K5889I) - AHNAK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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