Full data view for gene STRA6

Information The variants shown are described using the NM_001142617.1 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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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.-15-175G>A r.(=) p.(=) Unknown - likely benign g.74494798C>T - STRA6(NM_001199042.1):c.63G>A (p.Q21=) - STRA6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22A>G r.(?) p.(Asn8Asp) Unknown - VUS g.74494587T>C g.74202246T>C STRA6(NM_001199042.1):c.139A>G (p.N47D) - STRA6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.52del r.(?) p.(Tyr18Thrfs*54) Maternal (confirmed) - pathogenic (recessive) g.74494557del g.74202216del - - STRA6_000033 - PubMed: Slavotinek 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Slavotinek 2015 - M - United States - - - - - 1 Johan den Dunnen
-/. - c.91G>A r.(?) p.(Gly31Ser) Unknown - benign g.74494518C>T g.74202177C>T STRA6(NM_001199042.1):c.208G>A (p.G70S) - STRA6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.141A>G r.(?) p.(Ile47Met) Unknown - VUS g.74490132T>C - STRA6(NM_001199042.1):c.258A>G (p.I86M) - STRA6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.173C>T r.(?) p.(Ser58Leu) Unknown - VUS g.74490100G>A g.74197759G>A STRA6(NM_001142617.1):c.173C>T (p.(Ser58Leu)), STRA6(NM_022369.4):c.173C>T (p.S58L) - STRA6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.173C>T r.(?) p.(Ser58Leu) Unknown - benign g.74490100G>A - STRA6(NM_001142617.1):c.173C>T (p.(Ser58Leu)), STRA6(NM_022369.4):c.173C>T (p.S58L) - STRA6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.225_258del r.(?) p.(Gln75HisfsTer26) Unknown - VUS g.74489687_74489720del g.74197346_74197379del STRA6(NM_001142617.1):c.225_258del (p.(Gln75HisfsTer26)) - STRA6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.244C>T r.(?) p.(Arg82Cys) Unknown - VUS g.74489701G>A - STRA6(NM_022369.4):c.244C>T (p.(Arg82Cys)) - STRA6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.261_266+5del r.spl? p.? Unknown - VUS g.74489674_74489684del g.74197333_74197343del STRA6(NM_001142617.1):c.261_266+5del (p.?) - STRA6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Pro119=) Unknown - likely benign g.74488398G>A g.74196057G>A STRA6(NM_001199042.1):c.474C>T (p.P158=), STRA6(NM_001199042.2):c.474C>T (p.P158=) - STRA6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Pro119=) Unknown - likely benign g.74488398G>A - STRA6(NM_001199042.1):c.474C>T (p.P158=), STRA6(NM_001199042.2):c.474C>T (p.P158=) - STRA6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367G>C r.(?) p.(Ala123Pro) Unknown - VUS g.74488388C>G g.74196047C>G STRA6(NM_001142617.1):c.367G>C (p.(Ala123Pro)), STRA6(NM_022369.4):c.367G>C (p.A123P) - STRA6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.367G>C r.(?) p.(Ala123Pro) Unknown - benign g.74488388C>G - STRA6(NM_001142617.1):c.367G>C (p.(Ala123Pro)), STRA6(NM_022369.4):c.367G>C (p.A123P) - STRA6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406+5C>T r.spl? p.? Unknown - likely benign g.74488344G>A - STRA6(NM_001199042.1):c.523+5C>T - STRA6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.407-9A>T r.(=) p.(=) Unknown - likely benign g.74488025T>A g.74195684T>A STRA6(NM_001199042.1):c.524-9A>T - STRA6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.591G>A r.(?) p.(Val197=) Unknown - VUS g.74487649C>T - STRA6(NM_001199042.2):c.708G>A (p.V236=) - STRA6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597+6C>A r.(=) p.(=) Unknown - likely benign g.74487637G>T - STRA6(NM_022369.4):c.597+6C>A - STRA6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597+7G>A r.(=) p.(=) Unknown - likely benign g.74487636C>T - STRA6(NM_022369.4):c.597+7G>A - STRA6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597+9T>G r.(=) p.(=) Unknown - likely benign g.74487634A>C - STRA6(NM_022369.4):c.597+9T>G - STRA6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598-7_598-4del r.spl? p.? Unknown - VUS g.74486271_74486274del - STRA6(NM_022369.4):c.598-7_598-4del - STRA6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648C>T r.(?) p.(Leu216=) Unknown - likely benign g.74486213G>A g.74193872G>A STRA6(NM_001199042.1):c.765C>T (p.L255=) - STRA6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720+9G>C r.(=) p.(=) Unknown - likely benign g.74486132C>G g.74193791C>G STRA6(NM_001199042.1):c.837+9G>C - STRA6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829G>A r.(?) p.(Val277Ile) Unknown - VUS g.74483544C>T g.74191203C>T STRA6(NM_001142617.1):c.829G>A (p.(Val277Ile)) - STRA6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.865+93A>G r.(=) p.(=) Unknown - benign g.74483415T>C g.74191074T>C STRA6(NM_001199042.2):c.982+93A>G - STRA6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878C>T r.(?) p.(Pro293Leu) Unknown - VUS g.74483230G>A g.74190889G>A STRA6(NM_001199042.1):c.995C>T (p.P332L) - STRA6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.902C>T r.(?) p.(Thr301Ile) Unknown - VUS g.74483206G>A - STRA6(NM_001199042.1):c.1019C>T (p.T340I), STRA6(NM_022369.4):c.902C>T (p.(Thr301Ile), p.T301I) - STRA6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.902C>T r.(?) p.(Thr301Ile) Unknown - VUS g.74483206G>A - STRA6(NM_001199042.1):c.1019C>T (p.T340I), STRA6(NM_022369.4):c.902C>T (p.(Thr301Ile), p.T301I) - STRA6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.902C>T r.(?) p.(Thr301Ile) Unknown - VUS g.74483206G>A - STRA6(NM_001199042.1):c.1019C>T (p.T340I), STRA6(NM_022369.4):c.902C>T (p.(Thr301Ile), p.T301I) - STRA6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.927+3A>G r.spl? p.? Unknown - VUS g.74483178T>C - STRA6(NM_022369.4):c.927+3A>G - STRA6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.961A>C r.(?) p.(Thr321Pro) Unknown - VUS g.74481585T>G g.74189244T>G STRA6(NM_001199042.1):c.1078A>C (p.T360P) - STRA6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.961A>C r.(?) p.(Thr321Pro) Parent #1 - pathogenic g.74481585T>G g.74189244T>G - - STRA6_000009 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118203962 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.993G>A r.(?) p.(Thr331=) Unknown - likely benign g.74481553C>T g.74189212C>T STRA6(NM_001199042.1):c.1110G>A (p.T370=), STRA6(NM_022369.4):c.993G>A (p.(Thr331=), p.T331=) - STRA6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993G>A r.(?) p.(Thr331=) Unknown - likely benign g.74481553C>T - STRA6(NM_001199042.1):c.1110G>A (p.T370=), STRA6(NM_022369.4):c.993G>A (p.(Thr331=), p.T331=) - STRA6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993G>A r.(?) p.(Thr331=) Unknown - likely benign g.74481553C>T - STRA6(NM_001199042.1):c.1110G>A (p.T370=), STRA6(NM_022369.4):c.993G>A (p.(Thr331=), p.T331=) - STRA6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1009C>G r.(?) p.(Leu337Val) Unknown - VUS g.74481537G>C - STRA6(NM_022369.4):c.1009C>G (p.(Leu337Val)) - STRA6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026C>T r.(?) p.(Ile342=) Unknown - likely benign g.74481520G>A - STRA6(NM_001199042.2):c.1143C>T (p.I381=) - STRA6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031T>C r.(?) p.(Leu344Pro) Unknown - VUS g.74481515A>G - STRA6(NM_022369.4):c.1031T>C (p.(Leu344Pro)) - STRA6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1167-10C>G r.(=) p.(=) Unknown - benign g.74476340G>C g.74183999G>C STRA6(NM_001199042.2):c.1284-10C>G - STRA6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1190G>A r.(?) p.(Arg397Gln) Unknown - VUS g.74476307C>T - STRA6(NM_022369.4):c.1190G>A (p.(Arg397Gln)) - STRA6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1223G>A r.(?) p.(Arg408Gln) Unknown - likely benign g.74476274C>T g.74183933C>T STRA6(NM_001142617.1):c.1223G>A (p.(Arg408Gln)), STRA6(NM_001199042.1):c.1340G>A (p.R447Q), STRA6(NM_022369.4):c.1223G>A (p.R408Q) - STRA6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1223G>A r.(?) p.(Arg408Gln) Unknown - likely benign g.74476274C>T g.74183933C>T STRA6(NM_001142617.1):c.1223G>A (p.(Arg408Gln)), STRA6(NM_001199042.1):c.1340G>A (p.R447Q), STRA6(NM_022369.4):c.1223G>A (p.R408Q) - STRA6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1223G>A r.(?) p.(Arg408Gln) Maternal (confirmed) - likely pathogenic g.74476274C>T g.74183933C>T - - STRA6_000006 - PubMed: Slavotinek 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Slavotinek 2015 affected mother/child - - United States - - - - - 2 Johan den Dunnen
-?/. - c.1223G>A r.(?) p.(Arg408Gln) Unknown - likely benign g.74476274C>T - STRA6(NM_001142617.1):c.1223G>A (p.(Arg408Gln)), STRA6(NM_001199042.1):c.1340G>A (p.R447Q), STRA6(NM_022369.4):c.1223G>A (p.R408Q) - STRA6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1285G>C r.(?) p.(Ala429Pro) Both (homozygous) ACMG VUS g.74476212C>G - - - STRA6_000036 - - - - Germline - - - - - DNA SEQ-NG Peripheral blood - OI5 - - - - - - - - - - - 1 Anju Shukla
-?/. - c.1341G>A r.(?) p.(=) Unknown - likely benign g.74474761C>T - STRA6(NM_022369.4):c.1341G>A (p.T447=) - STRA6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1349C>A r.(?) p.(Ala450Asp) Unknown - likely benign g.74474753G>T g.74182412G>T STRA6(NM_022369.3):c.1349C>A (p.(Ala450Asp)) - STRA6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365G>C r.(?) p.(Met455Ile) Unknown - likely benign g.74474737C>G g.74182396C>G STRA6(NM_001199042.1):c.1482G>C (p.M494I) - STRA6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1403C>A r.(?) p.(Ser468Tyr) Unknown - likely benign g.74474699G>T g.74182358G>T STRA6(NM_001199042.1):c.1520C>A (p.S507Y) - STRA6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1418+10del r.(=) p.(=) Unknown - benign g.74474676del g.74182335del STRA6(NM_001199042.1):c.1535+10delA - STRA6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1520G>A r.(?) p.(Arg507Gln) Unknown - VUS g.74474502C>T - STRA6(NM_022369.4):c.1520G>A (p.(Arg507Gln)) - STRA6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1594C>T r.(?) p.(Arg532*) Both (homozygous) ACMG pathogenic (recessive) g.74473726G>A g.74181385G>A - - STRA6_000035 ACMG PVS1, PM2, PP1 PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F53‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1594C>T r.(?) p.(Arg532*) Both (homozygous) ACMG pathogenic (recessive) g.74473726G>A g.74181385G>A - - STRA6_000035 ACMG PVS1, PM2, PP1 PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F54‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1594C>T r.(?) p.(Arg532*) Unknown - likely pathogenic g.74473726G>A g.74181385G>A c.1964G-->A, c.1594 C-->T; p.Arg655His, p.Arg532* - STRA6_000035 confirmed with Sanger sequencing; potentially compound heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - MCOPS9 112 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.1605C>A r.(?) p.(Leu535=) Unknown - likely benign g.74473715G>T - STRA6(NM_001199042.1):c.1722C>A (p.L574=) - ISLR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1662G>A r.(?) p.(Pro554=) Unknown - likely benign g.74473658C>T - STRA6(NM_001199042.1):c.1779G>A (p.P593=) - ISLR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1684+1G>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.74473635C>T g.74181294C>T - - STRA6_000032 - PubMed: Slavotinek 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Slavotinek 2015 - M - United States - - - - - 1 Johan den Dunnen
?/. - c.1685-9C>T r.(=) p.(=) Unknown - VUS g.74473287G>A - STRA6(NM_022369.4):c.1685-9C>T - ISLR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1685-5C>G r.spl? p.? Unknown - likely benign g.74473283G>C g.74180942G>C STRA6(NM_001199042.1):c.1802-5C>G, STRA6(NM_022369.4):c.1685-5C>G - STRA6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1685-5C>G r.spl? p.? Unknown - likely benign g.74473283G>C - STRA6(NM_001199042.1):c.1802-5C>G, STRA6(NM_022369.4):c.1685-5C>G - STRA6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1713G>T r.(?) p.(Lys571Asn) Unknown - VUS g.74473250C>A g.74180909C>A STRA6(NM_001199042.1):c.1830G>T (p.K610N) - STRA6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1903G>A r.(?) p.(Gly635Ser) Unknown - likely benign g.74472522C>T g.74180181C>T STRA6(NM_001142617.1):c.1903G>A (p.(Gly635Ser)) - ISLR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1903G>A r.(?) p.(Gly635Ser) Parent #1 - VUS g.74472522C>T g.74180181C>T - - ISLR_000010 conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145614612 Germline - 19/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
+/. - c.1931C>T r.(?) p.(Thr644Met) Both (homozygous) - pathogenic (recessive) g.74472494G>A g.74180153G>A - - STRA6_000029 - PubMed: Makrythanasis 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Family_44 PubMed: Makrythanasis 2014 family, 3 affected - yes Jordan - - - - - 3 Johan den Dunnen
+?/. - c.1964G>A r.(?) p.(Arg655His) Maternal (confirmed) - likely pathogenic g.74472461C>T g.74180120C>T c.1964G-->A, c.1594 C-->T; p.Arg655His, p.Arg532* - STRA6_000037 confirmed with Sanger sequencing; potentially compound heterozygous PubMed: Patel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - MCOPS9 112 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.*4066C>T r.(=) p.(=) Unknown - likely benign g.74468355G>A g.74176014G>A ISLR(NM_005545.4):c.1156G>A (p.(Val386Ile)) - ISLR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4657C>T r.(=) p.(=) Unknown - likely benign g.74467764G>A g.74175423G>A ISLR(NM_005545.4):c.565G>A (p.V189M) - ISLR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4663C>T r.(=) p.(=) Unknown - likely benign g.74467758G>A - ISLR(NM_005545.4):c.559G>A (p.G187S) - ISLR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4664G>A r.(=) p.(=) Unknown - likely benign g.74467757C>T g.74175416C>T ISLR(NM_005545.4):c.558C>T (p.C186=) - ISLR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4806C>T r.(=) p.(=) Unknown - VUS g.74467615G>A g.74175274G>A ISLR(NM_005545.3):c.416G>A (p.(Arg139His)) - ISLR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5092C>T r.(=) p.(=) Unknown - likely benign g.74467329G>A g.74174988G>A ISLR(NM_005545.3):c.130G>A (p.(Val44Met)) - ISLR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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