Full data view for gene DNAH8

Information The variants shown are described using the NM_001206927.1 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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.265G>A r.(?) p.(Ala89Thr) Unknown - VUS g.38690850G>A - DNAH8(NM_001206927.1):c.265G>A (p.A89T) - DNAH8_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.301C>T r.(?) p.(Leu101=) Unknown - likely benign g.38690886C>T g.38723110C>T DNAH8(NM_001206927.1):c.301C>T (p.L101=) - DNAH8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.380_381del r.(?) p.(Lys127Argfs*7) Both (homozygous) - pathogenic (recessive) g.38690965_38690966del g.38723189_38723190del 378_379del - DNAH8_000036 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM patient PubMed: Yang 2020 2-generation family, 1 affected, unaffacted heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
?/. - c.384G>C r.(?) p.(Glu128Asp) Unknown - VUS g.38690969G>C - DNAH8(NM_001206927.2):c.384G>C (p.E128D) - DNAH8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668T>C r.(?) p.(Ile223Thr) Unknown - VUS g.38702307T>C g.38734531T>C - - DNAH8_000066 - PubMed: Alsamri 2021 - rs1554195443 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.863A>G r.(?) p.(Asn288Ser) Unknown - VUS g.38704943A>G g.38737167A>G - - DNAH8_000010 - - - rs6935293 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, colon Fam110 - - - - - - - - - - 2 Xiang Jiao
?/. - c.872C>A r.(?) p.(Ala291Asp) Both (homozygous) - likely benign g.38704952C>A g.38737176C>A DNAH8 221C>A - DNAH8_000058 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII1 PubMed: Chia 2018 2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs M yes Jordan - - - - - 4 Johan den Dunnen
?/. - c.872C>A r.(?) p.(Ala291Asp) Both (homozygous) - likely benign g.38704952C>A g.38737176C>A DNAH8 221C>A - DNAH8_000058 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII4 PubMed: Chia 2018 affected sister F yes Jordan - - - - - 1 Johan den Dunnen
?/. - c.872C>T r.(?) p.(Ala291Val) Unknown - VUS g.38704952C>T - DNAH8(NM_001206927.1):c.872C>T (p.A291V) - DNAH8_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952+2dup r.spl? p.? Unknown - VUS g.38705034dup g.38737258dup DNAH8(NM_001206927.1):c.952+1_952+2insT (p.?) - DNAH8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1525_1529del r.(?) p.(Gln509GlyfsTer5) Unknown - VUS g.38729487_38729491del - DNAH8(NM_001206927.1):c.1525_1529delCAAAT (p.Q509Gfs*5) - DNAH8_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1549T>C r.(?) p.(Tyr517His) Parent #1 - benign g.38729511T>C g.38761735T>C - - DNAH8_000030 249 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61748600 Germline - 249/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 249 Mohammed Faruq
-/. - c.1549T>C r.(?) p.(Tyr517His) Both (homozygous) - benign g.38729511T>C g.38761735T>C - - DNAH8_000030 10 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61748600 Germline - 10/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
?/. - c.2111A>G r.(?) p.(Tyr704Cys) Unknown - VUS g.38747813A>G - DNAH8(NM_001206927.1):c.2111A>G (p.Y704C) - DNAH8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2174C>G r.(?) p.(Ala725Gly) Unknown - VUS g.38749064C>G - DNAH8(NM_001206927.2):c.2174C>G (p.(Ala725Gly), p.A725G) - DNAH8_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2174C>G r.(?) p.(Ala725Gly) Unknown - likely benign g.38749064C>G - DNAH8(NM_001206927.2):c.2174C>G (p.(Ala725Gly), p.A725G) - DNAH8_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? ? c.2419C>T r.(?) p.(Arg807*) Both (homozygous) - likely pathogenic g.38754564C>T g.38786788C>T - - DNAH8_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
-/. - c.2620G>A r.(?) p.(Val874Met) Parent #1 - benign g.38757615G>A g.38789839G>A - - DNAH8_000031 57 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45529837 Germline - 57/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 57 Mohammed Faruq
-/. - c.2620G>A r.(?) p.(Val874Met) Both (homozygous) - benign g.38757615G>A g.38789839G>A - - DNAH8_000031 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45529837 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.3061A>G r.(?) p.(Ser1021Gly) Unknown - likely benign g.38773283A>G g.38805507A>G - - DNAH8_000067 - PubMed: Alsamri 2021 - rs865933270 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.3289A>G r.(?) p.(Ile1097Val) Unknown - VUS g.38781861A>G - DNAH8(NM_001206927.1):c.3289A>G (p.I1097V) - DNAH8_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3289A>G r.(?) p.(Ile1097Val) Parent #1 - likely benign g.38781861A>G g.38814085A>G - - DNAH8_000043 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat12 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.3311T>C r.(?) p.(Val1104Ala) Unknown - VUS g.38781883T>C g.38814107T>C DNAH8(NM_001206927.1):c.3311T>C (p.V1104A) - DNAH8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3703C>T r.(?) p.(Arg1235Cys) Unknown - VUS g.38790793C>T - - - DNAH8_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3776A>G r.(?) p.(Tyr1259Cys) Unknown - VUS g.38791393A>G - DNAH8(NM_001206927.2):c.3776A>G (p.(Tyr1259Cys)) - DNAH8_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4300T>C r.(=) p.(.Leu4373=) Both (homozygous) - benign g.38800209T>C g.38832433T>C - - DNAH8_000015 - PubMed: Whitfield 2019 - - Germline - - - - - DNA SEQ-NG-I Blood - INFM 18GM01974 PubMed: Whitfield 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes France Algeria - - - - 2 Marie Legendre
-/. - c.5196T>C r.(=) p.(Pro1732=) Both (homozygous) - benign g.38816574T>C g.38848798T>C - - DNAH8_000016 - PubMed: Whitfield 2019 - - Germline - - - - - DNA SEQ-NG-I Blood - INFM 18GM01974 PubMed: Whitfield 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes France Algeria - - - - 2 Marie Legendre
-?/. - c.5376G>C r.(?) p.(Lys1792Asn) Unknown - likely benign g.38819360G>C - DNAH8(NM_001206927.1):c.5376G>C (p.K1792N) - DNAH8_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5490C>A r.(?) p.(Asp1830Glu) Parent #1 - benign g.38820493C>A g.38852717C>A - - DNAH8_000023 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45519938 Germline - 10/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
?/. - c.5530C>A r.(?) p.(Arg1844Ser) Unknown - VUS g.38820533C>A - - - DNAH8_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5541C>T r.(?) p.(Ala1847=) Both (homozygous) - benign g.38820544C>T g.38852768C>T - - DNAH8_000017 - PubMed: Whitfield 2019 - - Germline - - - - - DNA SEQ-NG-I Blood - INFM 18GM01974 PubMed: Whitfield 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes France Algeria - - - - 2 Marie Legendre
-?/. - c.5789G>A r.(?) p.(Arg1930His) Parent #2 - likely benign g.38825349G>A g.38857573G>A - - DNAH8_000065 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat12 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.5828A>T r.(?) p.(Asn1943Ile) Unknown - VUS g.38825388A>T - DNAH8(NM_001206927.1):c.5828A>T (p.N1943I) - DNAH8_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6689A>G r.(?) p.(Lys2230Arg) Maternal (confirmed) - pathogenic (recessive) g.38834648A>G g.38866872A>G - - DNAH8_000033 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - INFM FamA051 PubMed: Liu 2020, Journal: Liu 2020 2-generation family, 1 affected, unaffacted heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
?/. - c.6856A>G r.(?) p.(Ser2286Gly) Unknown - VUS g.38838204A>G - DNAH8(NM_001206927.2):c.6856A>G (p.S2286G) - DNAH8_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6962_6968del r.(?) p.(His2321Profs*4) Both (homozygous) - pathogenic (recessive) g.38838310_38838316del g.38870534_38870540del - - DNAH8_000032 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - INFM FamF0300 PubMed: Liu 2020, Journal: Liu 2020 2-generation family, 1 affected, unaffacted heterozygous carrier parents M yes Morocco - - - - - 1 Johan den Dunnen
?/. - c.7123A>C r.(?) p.(Asn2375His) Unknown - VUS g.38840444A>C - - - DNAH8_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7177A>C r.(?) p.(Asn2393His) Unknown - VUS g.38840498A>C - DNAH8(NM_001206927.1):c.7177A>C (p.N2393H) - DNAH8_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7982C>A r.(?) p.(Thr2661Asn) Both (homozygous) - benign g.38850809C>A g.38883033C>A - - DNAH8_000018 - PubMed: Whitfield 2019 - - Germline - - - - - DNA SEQ-NG-I Blood - INFM 18GM01974 PubMed: Whitfield 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes France Algeria - - - - 2 Marie Legendre
?/. - c.8221_8223del r.(?) p.(Asp2741del) Unknown - VUS g.38851736_38851738del - DNAH8(NM_001206927.1):c.8221_8223delGAT (p.D2741del) - DNAH8_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.9194+1G>A r.spl? p.? Unknown - likely pathogenic g.38867683G>A - - - DNAH8_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9427C>T r.(?) p.(Arg3143Cys) Paternal (confirmed) - pathogenic (recessive) g.38875810C>T g.38908034C>T - - DNAH8_000034 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - INFM FamX003 PubMed: Liu 2020, Journal: Liu 2020 2-generation family, 1 affected, unaffacted heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
?/. - c.9739A>G r.(?) p.(Arg3247Gly) Unknown - VUS g.38877519A>G g.38909743A>G DNAH8(NM_001206927.1):c.9739A>G (p.(Arg3247Gly)) - DNAH8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.10141-4del r.(?) p.(=) Both (homozygous) - benign g.38885011del g.38917235del 10141-4delA - DNAH8_000013 - PubMed: Whitfield 2019 - - Germline - - - - - DNA SEQ-NG-I Blood - INFM 18GM00285 PubMed: Whitfield 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France France;Italy - - - - 1 Marie Legendre
?/. - c.10238A>G r.(?) p.(Lys3413Arg) Unknown - VUS g.38885112A>G - DNAH8(NM_001206927.2):c.10238A>G (p.K3413R) - DNAH8_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10678G>A r.(?) p.(Ala3560Thr) Unknown - VUS g.38890849G>A g.38923073G>A - - DNAH8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11048C>T r.(?) p.(Pro3683Leu) Unknown - VUS g.38893916C>T - DNAH8(NM_001206927.2):c.11048C>T (p.P3683L) - DNAH8_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11182C>T r.(?) p.(Pro3728Ser) Unknown - VUS g.38897350C>T - DNAH8(NM_001206927.2):c.11182C>T (p.P3728S) - DNAH8_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11274+3G>T r.spl? p.? Unknown - VUS g.38897445G>T - DNAH8(NM_001206927.2):c.11274+3G>T - DNAH8_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11274+10G>T r.(=) p.(=) Unknown - likely benign g.38897452G>T - DNAH8(NM_001206927.2):c.11274+10G>T - DNAH8_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11374A>G r.(?) p.(Lys3792Glu) Unknown - VUS g.38899686A>G - DNAH8(NM_001206927.1):c.11374A>G (p.K3792E) - DNAH8_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11771C>T r.(?) p.(Thr3924Met) Unknown - VUS g.38905957C>T g.38938181C>T - - DNAH8_000011 - - - rs61757218 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, colon Fam110 - - - - - - - - - - 2 Xiang Jiao
+/. - c.11771C>T r.(?) p.(Thr3924Met) Paternal (confirmed) - pathogenic (recessive) g.38905957C>T g.38938181C>T - - DNAH8_000011 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - INFM FamA051 PubMed: Liu 2020, Journal: Liu 2020 2-generation family, 1 affected, unaffacted heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
?/. - c.11819C>A r.(?) p.(Ser3940Tyr) Unknown - VUS g.38906576C>A g.38938800C>A - - DNAH8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11894_11895del r.(?) p.(Ser3965Cysfs*21) Unknown - VUS g.38906651_38906652del - DNAH8(NM_001206927.1):c.11894_11895delCT (p.S3965Cfs*21) - DNAH8_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11980C>T r.(?) p.(His3994Tyr) Unknown - VUS g.38906737C>T - DNAH8(NM_001206927.1):c.11980C>T (p.H3994Y) - DNAH8_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.12525+3A>T r.spl? p.? Unknown - likely benign g.38939444A>T g.38971668A>T DNAH8(NM_001206927.1):c.12525+3A>T - DNAH8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.12721G>A r.(?) p.(Ala4241Thr) Maternal (confirmed) - pathogenic (recessive) g.38942192G>A g.38974416G>A - - DNAH8_000035 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - INFM FamX003 PubMed: Liu 2020, Journal: Liu 2020 2-generation family, 1 affected, unaffacted heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
?/. - c.12914T>A r.(?) p.(Phe4305Tyr) Unknown - VUS g.38950201T>A - DNAH8(NM_001206927.2):c.12914T>A (p.(Phe4305Tyr)) - DNAH8_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12968C>T r.(?) p.(Thr4323Met) Parent #1 - benign g.38951998C>T g.38984222C>T - - DNAH8_000019 - PubMed: Whitfield 2019 - - Germline - - - - - DNA SEQ-NG-I Blood - INFM 18GM01926 PubMed: Whitfield 2019 2-generation family, 1 affected M no France - - - - - 1 Marie Legendre
-/. - c.13119A>G r.(=) p.(Leu4373=) Both (homozygous) - benign g.38957853A>G g.38990077A>G - - DNAH8_000014 - PubMed: Whitfield 2019 - - Germline - - - - - DNA SEQ-NG-I Blood - INFM 18GM00285 PubMed: Whitfield 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France France;Italy - - - - 1 Marie Legendre
?/. - c.13462A>G r.(?) p.(Ile4488Val) Unknown - VUS g.38980081A>G g.39012305A>G - - DNAH8_000012 - - - rs10484847 Germline yes - - - - DNA SEQ-NG-I Blood gene panel cancer, colon Fam301 - - - - - - - - - - 3 Xiang Jiao
?/. - c.13996G>T r.(?) p.(Val4666Leu) Unknown - VUS g.38998040G>T - DNAH8(NM_001206927.1):c.13996G>T (p.V4666L) - DNAH8_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14059C>T r.(?) p.(Arg4687*) Unknown - VUS g.38998103C>T - DNAH8(NM_001206927.1):c.14059C>T (p.R4687*), DNAH8(NM_001206927.2):c.14059C>T (p.R4687*) - DNAH8_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14059C>T r.(?) p.(Arg4687*) Unknown - VUS g.38998103C>T - DNAH8(NM_001206927.1):c.14059C>T (p.R4687*), DNAH8(NM_001206927.2):c.14059C>T (p.R4687*) - DNAH8_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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