Full data view for gene DNAH7

Information The variants shown are described using the NM_018897.2 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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.415_416del r.(?) p.(Leu139ArgfsTer6) Unknown - VUS g.196892754_196892755del g.196028030_196028031del DNAH7(NM_018897.2):c.415_416del (p.?) - DNAH7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.806A>T r.(?) p.(Asp269Val) Unknown - likely benign g.196883957T>A g.196019233T>A DNAH7(NM_018897.2):c.806A>T (p.(Asp269Val)) - DNAH7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1139T>G r.(?) p.(Met380Arg) Unknown - benign g.196866433A>C g.196001709A>C DNAH7(NM_018897.3):c.1139T>G (p.M380R) - DNAH7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1139T>G r.(?) p.(Met380Arg) Parent #1 - likely benign g.196866433A>C g.196001709A>C - - DNAH7_000026 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144390858 Germline - 14/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
?/. - c.1139T>G r.(?) p.(Met380Arg) Maternal (confirmed) - VUS g.196866433A>C - - - DNAH7_000026 - Doucette 2021, submitted - - Germline yes - - - - DNA SEQ-NG - - maculopathy M68 II-1 Doucette 2021, submitted Only Affected brother of a 4 member family. 1 unaffected sister and unaffected parents. Patient has an occult macular dystrophy though no RP1L1 variants were noted. M - Canada - - - Yes - 1 Lance P Doucette
?/. - c.1173+4A>C r.spl? p.? Unknown - VUS g.196866395T>G g.196001671T>G DNAH7(NM_018897.3):c.1173+4A>C - DNAH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1448A>T r.(?) p.(Glu483Val) Unknown - VUS g.196852859T>A g.195988135T>A DNAH7(NM_018897.3):c.1448A>T (p.E483V) - DNAH7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2023A>G r.(?) p.(Lys675Glu) Unknown - likely benign g.196837001T>C - DNAH7(NM_018897.3):c.2023A>G (p.(Lys675Glu)) - DNAH7_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2072G>T r.(?) p.(Arg691Leu) Unknown - VUS g.196834805C>A g.195970081C>A DNAH7(NM_018897.2):c.2072G>T (p.(Arg691Leu)) - DNAH7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.2479dup r.(?) p.(Val827Glyfs*20) Both (homozygous) ACMG pathogenic (recessive) g.196825396dup g.195960672dup - - DNAH7_000058 - - - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood WES INFM NK-0305 - - M yes China Han Chinese - - - WES 1 Yang Gao
-?/. - c.2848A>G r.(?) p.(Met950Val) Unknown - likely benign g.196825027T>C g.195960303T>C DNAH7(NM_018897.2):c.2848A>G (p.(Met950Val)) - DNAH7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2849T>C r.(?) p.(Met950Thr) Unknown - VUS g.196825026A>G g.195960302A>G - - DNAH7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2929C>G r.(?) p.(Leu977Val) Unknown - VUS g.196822134G>C - DNAH7(NM_018897.3):c.2929C>G (p.L977V) - DNAH7_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2984G>T r.(?) p.(Ser995Ile) Unknown - VUS g.196822079C>A - DNAH7(NM_018897.2):c.2984G>T (p.(Ser995Ile)) - DNAH7_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3007A>G r.(?) p.(Met1003Val) Paternal (confirmed) - likely benign g.196822056T>C g.195957332T>C - - DNAH7_000049 - - - - Germline yes - - - - DNA SEQ whole blood - ? - - - M no Russian Federation - - - - - 1 Victoria Serzhanova
?/. - c.3010C>T r.(?) p.(Pro1004Ser) Unknown - VUS g.196822053G>A - DNAH7(NM_018897.2):c.3010C>T (p.(Pro1004Ser)) - DNAH7_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3038T>C r.(?) p.(Val1013Ala) Unknown - VUS g.196822025A>G g.195957301A>G - - DNAH7_000048 - PubMed: Kiselev 2019 - rs767345178 Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat PubMed: Kiselev 2019 - F - Sweden - - - - - 1 Johan den Dunnen
-?/. - c.4264C>A r.(?) p.(Pro1422Thr) Unknown - likely benign g.196771454G>T - DNAH7(NM_018897.3):c.4264C>A (p.(Pro1422Thr)) - DNAH7_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4451C>T r.(?) p.(Thr1484Met) Unknown - VUS g.196765103G>A g.195900379G>A DNAH7(NM_018897.2):c.4451C>T (p.(Thr1484Met)) - DNAH7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4549-3del r.spl? p.? Unknown - likely benign g.196762508del g.195897784del DNAH7(NM_018897.3):c.4549-3delT - DNAH7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4549-3dup r.spl? p.? Unknown - benign g.196762508dup g.195897784dup DNAH7(NM_018897.3):c.4549-3dupT - DNAH7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4787dup r.(?) p.(Tyr1596Ter) Unknown - likely benign g.196759809dup g.195895085dup DNAH7(NM_018897.2):c.4787dupA (p.(Tyr1596Ter)) - DNAH7_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4787dup r.(?) p.(Tyr1596Ter) Parent #2 - likely pathogenic g.196759809dup g.195895085dup 4787_4788insA - DNAH7_000041 candidate variant primary ciliary dyskinesia PubMed: Boissel 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 051-039-KUY PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
-/. - c.4897-9_4897-8del r.(=) p.(=) Unknown - benign g.196756545_196756546del g.195891821_195891822del DNAH7(NM_018897.3):c.4897-9_4897-8delTT - DNAH7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4897-8del r.(=) p.(=) Unknown - benign g.196756546del g.195891822del DNAH7(NM_018897.2):c.4897-9del (p.(=)), DNAH7(NM_018897.3):c.4897-8delT - DNAH7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4897-8del r.(=) p.(=) Unknown - VUS g.196756546del g.195891822del DNAH7(NM_018897.2):c.4897-9del (p.(=)), DNAH7(NM_018897.3):c.4897-8delT - DNAH7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5102A>C r.(?) p.(Glu1701Ala) Unknown - VUS g.196753650T>G g.195888926T>G DNAH7(NM_018897.2):c.5102A>C (p.(Glu1701Ala)) - DNAH7_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5212G>T r.(?) p.(Val1738Phe) Unknown - VUS g.196753540C>A g.195888816C>A DNAH7(NM_018897.3):c.5212G>T (p.V1738F) - DNAH7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5347A>T r.(?) p.(Met1783Leu) Unknown - likely benign g.196753041T>A g.195888317T>A DNAH7(NM_018897.3):c.5347A>T (p.M1783L) - DNAH7_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5352C>G r.(?) p.(Gly1784=) Unknown - likely benign g.196753036G>C g.195888312G>C DNAH7(NM_018897.3):c.5352C>G (p.G1784=) - DNAH7_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5377T>G r.(?) p.(Ser1793Ala) Unknown - VUS g.196753011A>C - DNAH7(NM_018897.3):c.5377T>G (p.(Ser1793Ala)) - DNAH7_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5379G>A r.(?) p.(Ser1793=) Unknown - likely benign g.196753009C>T g.195888285C>T DNAH7(NM_018897.3):c.5379G>A (p.S1793=) - DNAH7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.5515C>T r.(?) p.(Arg1839*) Parent #2 - pathogenic g.196750888G>A g.195886164G>A - - DNAH7_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.5560A>G r.(?) p.(Ile1854Val) Parent #1 - benign g.196749512T>C g.195884788T>C - - DNAH7_000056 90 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62623593 Germline - 90/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 90 Mohammed Faruq
-/. - c.5560A>G r.(?) p.(Ile1854Val) Both (homozygous) - benign g.196749512T>C g.195884788T>C - - DNAH7_000056 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62623593 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.5744A>T r.(?) p.(Asp1915Val) Unknown - likely benign g.196749328T>A g.195884604T>A DNAH7(NM_018897.2):c.5744A>T (p.(Asp1915Val)) - DNAH7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5870G>A r.(?) p.(Arg1957Gln) Unknown - VUS g.196746610C>T g.195881886C>T - - DNAH7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6059T>C r.(?) p.(Met2020Thr) Unknown - likely benign g.196741326A>G - DNAH7(NM_018897.3):c.6059T>C (p.(Met2020Thr)) - DNAH7_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6161A>G r.(?) p.(Tyr2054Cys) Parent #1 - likely benign g.196740524T>C g.195875800T>C - - DNAH7_000055 64 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62623377 Germline - 64/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 64 Mohammed Faruq
-?/. - c.6161A>G r.(?) p.(Tyr2054Cys) Both (homozygous) - likely benign g.196740524T>C g.195875800T>C - - DNAH7_000055 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62623377 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.6161A>G r.(?) p.(Tyr2054Cys) Paternal (confirmed) - VUS g.196740524T>C - - - DNAH7_000055 - Doucette 2021, submitted - - Germline yes - - - - DNA SEQ-NG - - maculopathy M68 II-1 Doucette 2021, submitted Only Affected brother of a 4 member family. 1 unaffected sister and unaffected parents. Patient has an occult macular dystrophy though no RP1L1 variants were noted. M - Canada - - - Yes - 1 Lance P Doucette
-/. - c.6340A>G r.(?) p.(Thr2114Ala) Unknown - benign g.196738365T>C g.195873641T>C DNAH7(NM_018897.3):c.6340A>G (p.T2114A) - DNAH7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6340A>G r.(?) p.(Thr2114Ala) Parent #1 - benign g.196738365T>C g.195873641T>C - - DNAH7_000016 71 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75859635 Germline - 71/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 71 Mohammed Faruq
-/. - c.6340A>G r.(?) p.(Thr2114Ala) Both (homozygous) - benign g.196738365T>C g.195873641T>C - - DNAH7_000016 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75859635 Germline - 2/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.6878G>A r.(?) p.(Arg2293Gln) Unknown - VUS g.196729501C>T g.195864777C>T DNAH7(NM_018897.3):c.6878G>A (p.R2293Q) - DNAH7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6932T>C r.(?) p.(Met2311Thr) Unknown - VUS g.196729447A>G - DNAH7(NM_018897.2):c.6932T>C (p.(Met2311Thr)) - DNAH7_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6949C>T r.(?) p.(Arg2317Ter) Unknown - VUS g.196729430G>A g.195864706G>A DNAH7(NM_018897.3):c.6949C>T (p.R2317*) - DNAH7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7117A>G r.(?) p.(Thr2373Ala) Unknown - likely benign g.196729262T>C g.195864538T>C DNAH7(NM_018897.3):c.7117A>G (p.T2373A) - DNAH7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7377C>G r.(?) p.(Asn2459Lys) Unknown - likely benign g.196729002G>C - DNAH7(NM_018897.3):c.7377C>G (p.(Asn2459Lys)) - DNAH7_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7448G>A r.(?) p.(Arg2483Gln) Unknown - likely benign g.196728931C>T g.195864207C>T DNAH7(NM_018897.2):c.7448G>A (p.(Arg2483Gln)) - DNAH7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7565T>C r.(?) p.(Met2522Thr) Unknown - VUS g.196726612A>G - DNAH7(NM_018897.3):c.7565T>C (p.(Met2522Thr)) - DNAH7_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7741G>A r.(?) p.(Val2581Ile) Unknown - likely benign g.196723524C>T g.195858800C>T DNAH7(NM_018897.2):c.7741G>A (p.(Val2581Ile)) - DNAH7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.8624G>A r.(?) p.(Arg2875Gln) Parent #1 - likely pathogenic g.196718224C>T g.195853500C>T - - DNAH7_000069 candidate variant primary ciliary dyskinesia PubMed: Boissel 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 051-039-KUY PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
?/. - c.9335A>G r.(?) p.(Asp3112Gly) Unknown - VUS g.196682510T>C g.195817786T>C DNAH7(NM_018897.2):c.9335A>G (p.(Asp3112Gly)) - DNAH7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9985G>A r.(?) p.(Asp3329Asn) Unknown - likely benign g.196673504C>T - DNAH7(NM_018897.3):c.9985G>A (p.(Asp3329Asn)) - DNAH7_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10697T>C r.(?) p.(Phe3566Ser) Both (homozygous) - VUS g.196659081A>G g.195794357A>G NM_018897:c.10697T>C - DNAH7_000059 - PubMed: Chatron 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DEE FamDPatV2 PubMed: Chatron 2020 4-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes Iran - - - - - 2 Johan den Dunnen
?/. - c.10697T>C r.(?) p.(Phe3566Ser) Both (homozygous) - VUS g.196659081A>G g.195794357A>G NM_018897:c.10697T>C - DNAH7_000059 - PubMed: Chatron 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DEE FamDPatV3 PubMed: Chatron 2020 sister F yes Iran - - - - - 1 Johan den Dunnen
+?/. 58 c.10753T>C r.(?) p.(Phe3585Leu) Parent #1 - likely pathogenic g.196651859A>G g.195787135A>G - - DNAH7_000003 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH6695_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
./. - c.11934T>A r.(?) p.(Tyr3978*) Parent #1 - pathogenic g.196602786A>T g.195738062A>T - - DNAH7_000002 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.11934T>A r.(?) p.(Tyr3978Ter) Unknown - VUS g.196602786A>T g.195738062A>T DNAH7(NM_018897.3):c.11934T>A (p.Y3978*) - DNAH7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.11947C>T r.(?) p.(Arg3983Trp) Unknown - benign g.196602773G>A g.195738049G>A DNAH7(NM_018897.3):c.11947C>T (p.R3983W) - DNAH7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.11947C>T r.(?) p.(Arg3983Trp) Parent #1 - pathogenic g.196602773G>A g.195738049G>A - - DNAH7_000004 35 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114621989 Germline - 35/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 35 Mohammed Faruq
?/. - c.11992_11995dup r.(?) p.(Ala3999AspfsTer8) Unknown - VUS g.196602727_196602730dup g.195738003_195738006dup DNAH7(NM_018897.2):c.11995_11996insATTG (p.(Ala3999AspfsTer8)) - DNAH7_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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