Full data view for gene COL4A1

Information The variants shown are described using the NM_001845.4 transcript reference sequence.

374 entries on 4 pages. Showing entries 1 - 100.
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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.-1112G>A r.(?) p.(=) Unknown - likely benign g.110960486C>T g.110308139C>T COL4A2(NM_001846.2):c.99+16C>T (p.(=)), COL4A2(NM_001846.3):c.99+16C>T - COL4A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-1112G>A r.(?) p.(=) Unknown - VUS g.110960486C>T - COL4A2(NM_001846.2):c.99+16C>T (p.(=)), COL4A2(NM_001846.3):c.99+16C>T - COL4A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1100T>C r.(?) p.(=) Unknown - likely benign g.110960474A>G g.110308127A>G COL4A2(NM_001846.2):c.99+4A>G (p.?), COL4A2(NM_001846.3):c.99+4A>G - COL4A1_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1100T>C r.(?) p.(=) Unknown - VUS g.110960474A>G g.110308127A>G COL4A2(NM_001846.2):c.99+4A>G (p.?), COL4A2(NM_001846.3):c.99+4A>G - COL4A1_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1029G>A r.(?) p.(=) Unknown - likely benign g.110960403C>T g.110308056C>T COL4A2(NM_001846.3):c.45-13C>T - COL4A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-929G>A r.(?) p.(=) Unknown - likely benign g.110960303C>T g.110307956C>T COL4A2(NM_001846.3):c.44+9C>T - COL4A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-90G>T r.(=) p.(=) Parent #1 - VUS g.110959464C>A g.110307117C>A - - COL4A1_000053 - - - - Germline - - - 0 - DNA SEQ - - MEOAL - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.-90G>T r.(?) p.(=) Unknown - benign g.110959464C>A g.110307117C>A - - COL4A1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7C>A r.(?) p.(Pro3Thr) Unknown - likely benign g.110959368G>T g.110307021G>T COL4A1(NM_001845.5):c.7C>A (p.P3T) - COL4A1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.19G>C r.(?) p.(Val7Leu) Parent #1 - benign g.110959356C>G g.110307009C>G - - COL4A1_000052 Polyphen benign 0,0; also find in control - - rs9515185 Germline - - - 0 - DNA SEQ - - MEOAL - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.19G>C r.(?) p.(Val7Leu) Unknown - benign g.110959356C>G g.110307009C>G COL4A1(NM_001845.5):c.19G>C (p.V7L) - COL4A1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.19G>C r.(?) p.(Val7Leu) Unknown - benign g.110959356C>G g.110307009C>G COL4A1(NM_001845.5):c.19G>C (p.V7L) - COL4A1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.85-69T>C r.(=) p.(=) Parent #1 - VUS g.110895150A>G g.110242803A>G - - COL4A1_000057 - - - - Germline - - - 0 - DNA SEQ - - MEOAL - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.85-11T>C r.(=) p.(=) Parent #1 - benign g.110895092A>G g.110242745A>G - - COL4A1_000056 - - - rs41275104 Germline - - - 0 - DNA SEQ - - MEOAL - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.85-11T>C r.(=) p.(=) Unknown - benign g.110895092A>G g.110242745A>G COL4A1(NM_001845.5):c.85-11T>C - COL4A1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.85-11T>C r.(=) p.(=) Unknown - benign g.110895092A>G g.110242745A>G COL4A1(NM_001845.5):c.85-11T>C - COL4A1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.161C>T r.(?) p.(Pro54Leu) Parent #1 - pathogenic g.110866346G>A g.110213999G>A - - COL4A1_000055 PolyPhen-2 :probably damaging (PSIC: 0.999) - - rs34004222 Germline - - - 0 - DNA SEQ - - MEOAL - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.161C>T r.(?) p.(Pro54Leu) Unknown - likely benign g.110866346G>A g.110213999G>A COL4A1(NM_001845.4):c.161C>T (p.(Pro54Leu)), COL4A1(NM_001845.6):c.161C>T (p.P54L) - COL4A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.161C>T r.(?) p.(Pro54Leu) Unknown - benign g.110866346G>A g.110213999G>A COL4A1(NM_001845.4):c.161C>T (p.(Pro54Leu)), COL4A1(NM_001845.6):c.161C>T (p.P54L) - COL4A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.191G>A r.(?) p.(Gly64Glu) Unknown - VUS g.110866316C>T g.110213969C>T COL4A1(NM_001845.5):c.191G>A (p.G64E) - COL4A1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.196C>A r.(?) p.(Gln66Lys) Unknown - likely benign g.110866311G>T g.110213964G>T COL4A1(NM_001845.5):c.196C>A (p.Q66K) - COL4A1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.234+8C>T r.(=) p.(=) Parent #1 - benign g.110866265G>A g.110213918G>A - - COL4A1_000054 - - - rs9521650 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.234+8C>T r.(=) p.(=) Parent #1 - benign g.110866265G>A g.110213918G>A - - COL4A1_000054 - - - rs9521650 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.234+8C>T r.(=) p.(=) Unknown - benign g.110866265G>A g.110213918G>A COL4A1(NM_001845.5):c.234+8C>T, COL4A1(NM_001845.6):c.234+8C>T - COL4A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.234+8C>T r.(=) p.(=) Unknown - benign g.110866265G>A g.110213918G>A COL4A1(NM_001845.5):c.234+8C>T, COL4A1(NM_001845.6):c.234+8C>T - COL4A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.234+8C>T r.(=) p.(=) Unknown - benign g.110866265G>A g.110213918G>A COL4A1(NM_001845.5):c.234+8C>T, COL4A1(NM_001845.6):c.234+8C>T - COL4A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235-31C>A r.(=) p.(=) Parent #1 - VUS g.110866204G>T g.110213857G>T - - COL4A1_000067 - - - rs41275102 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.235-23A>G r.(=) p.(=) Unknown - benign g.110866196T>C g.110213849T>C COL4A1(NM_001845.5):c.235-23A>G - COL4A1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.279+20A>T r.(=) p.(=) Unknown - benign g.110866109T>A g.110213762T>A COL4A1(NM_001845.4):c.279+20A>T (p.(=)), COL4A1(NM_001845.5):c.279+20A>T - COL4A1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.279+20A>T r.(=) p.(=) Unknown - likely benign g.110866109T>A g.110213762T>A COL4A1(NM_001845.4):c.279+20A>T (p.(=)), COL4A1(NM_001845.5):c.279+20A>T - COL4A1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.280-156_280-155dup r.(=) p.(=) Unknown - benign g.110865122_110865123dup g.110212775_110212776dup COL4A1(NM_001845.5):c.280-156_280-155dupTG - COL4A1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.280-10G>A r.(=) p.(=) Unknown - benign g.110864975C>T g.110212628C>T COL4A1(NM_001845.5):c.280-10G>A - COL4A1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.324+1G>A r.spl? p.? Unknown - pathogenic g.110864920C>T g.110212573C>T COL4A1(NM_001845.5):c.324+1G>A - COL4A1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.329T>C r.(?) p.(Ile110Thr) Unknown - likely benign g.110864822A>G - COL4A1(NM_001845.5):c.329T>C (p.I110T), COL4A1(NM_001845.6):c.329T>C (p.I110T) - COL4A1_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.329T>C r.(?) p.(Ile110Thr) Unknown - VUS g.110864822A>G - COL4A1(NM_001845.5):c.329T>C (p.I110T), COL4A1(NM_001845.6):c.329T>C (p.I110T) - COL4A1_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.337C>T r.(?) p.(Gln113Ter) Unknown - likely pathogenic g.110864814G>A g.110212467G>A - - COL4A1_000248 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5622 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. - c.364A>C r.(?) p.(Ile122Leu) Unknown ACMG VUS g.110864787T>G - - - COL4A1_000258 ACMG: PM2_SUP, PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - BSVD1;POREN1 188382 - - M ? ? (unknown) - - 0 - - 1 Andreas Laner
-?/. - c.387+8C>T r.(=) p.(=) Unknown - likely benign g.110864756G>A - COL4A1(NM_001845.5):c.387+8C>T - COL4A1_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393G>A r.(?) p.(Glu131=) Unknown - likely benign g.110864264C>T g.110211917C>T COL4A1(NM_001845.4):c.393G>A (p.(Glu131=)), COL4A1(NM_001845.5):c.393G>A (p.E131=) - COL4A1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.393G>A r.(?) p.(Glu131=) Unknown - likely benign g.110864264C>T g.110211917C>T COL4A1(NM_001845.4):c.393G>A (p.(Glu131=)), COL4A1(NM_001845.5):c.393G>A (p.E131=) - COL4A1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.432T>A r.(=) p.(=) Parent #1 - benign g.110864225A>T g.110211878A>T - - COL4A1_000066 also found in controls - - rs532625 Germline - - - 0 - DNA SEQ - - MEOAL - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.432T>A r.(?) p.(Ala144=) Unknown - benign g.110864225A>T g.110211878A>T COL4A1(NM_001845.5):c.432T>A (p.A144=), COL4A1(NM_001845.6):c.432T>A (p.A144=) - COL4A1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.432T>A r.(?) p.(Ala144=) Unknown - benign g.110864225A>T g.110211878A>T COL4A1(NM_001845.5):c.432T>A (p.A144=), COL4A1(NM_001845.6):c.432T>A (p.A144=) - COL4A1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.432T>A r.(?) p.(Ala144=) Unknown - benign g.110864225A>T g.110211878A>T COL4A1(NM_001845.5):c.432T>A (p.A144=), COL4A1(NM_001845.6):c.432T>A (p.A144=) - COL4A1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.442-1G>C r.spl? p.? Unknown - likely pathogenic g.110864021C>G g.110211674C>G - - COL4A1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.468+15_468+19del r.(=) p.(=) Parent #1 - VUS g.110863985_110863989del g.110211638_110211642del - - COL4A1_000065 - - - rs150920503 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.468+15_468+19del r.(=) p.(=) Unknown - benign g.110863985_110863989del g.110211638_110211642del COL4A1(NM_001845.4):c.468+15_468+19del (p.(=)), COL4A1(NM_001845.5):c.468+15_468+19delATTTT - COL4A1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.468+15_468+19del r.(=) p.(=) Unknown - likely benign g.110863985_110863989del - COL4A1(NM_001845.4):c.468+15_468+19del (p.(=)), COL4A1(NM_001845.5):c.468+15_468+19delATTTT - COL4A1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.501C>T r.(=) p.(=) Parent #1 - benign g.110862527G>A g.110210180G>A - - COL4A1_000026 - - - rs16975612 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.501C>T r.(?) p.(Pro167=) Unknown - benign g.110862527G>A g.110210180G>A COL4A1(NM_001845.4):c.501C>T (p.(Pro167=)), COL4A1(NM_001845.5):c.501C>T (p.P167=) - COL4A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.501C>T r.(?) p.(Pro167=) Unknown - likely benign g.110862527G>A g.110210180G>A COL4A1(NM_001845.4):c.501C>T (p.(Pro167=)), COL4A1(NM_001845.5):c.501C>T (p.P167=) - COL4A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.502G>A r.(?) p.(Gly168Arg) Unknown - likely pathogenic g.110862526C>T g.110210179C>T - - COL4A1_000244 - PubMed: Huang 2015 - - Germline - - - 0 - DNA SEQ-NG - gene panel glaucoma G353 PubMed: Huang 2015 family M - China - - 0 - - 1 LOVD
-?/. - c.505A>T r.(?) p.(Met169Leu) Unknown - likely benign g.110862523T>A g.110210176T>A COL4A1(NM_001845.5):c.505A>T (p.M169L) - COL4A1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.534C>T r.(?) p.(Pro178=) Unknown - likely benign g.110862494G>A g.110210147G>A COL4A1(NM_001845.4):c.534C>T (p.(=)) - COL4A1_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.553-8C>T r.(=) p.(=) Unknown - likely benign g.110862397G>A - COL4A1(NM_001845.5):c.553-8C>T - COL4A1_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.615+24C>T r.(=) p.(=) Parent #1 - benign g.110862303G>A g.110209956G>A - - COL4A1_000025 - - - rs9521649 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.615+24C>T r.(=) p.(=) Unknown - benign g.110862303G>A g.110209956G>A COL4A1(NM_001845.5):c.615+24C>T - COL4A1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.615+59T>G r.(=) p.(=) Parent #1 - benign g.110862268A>C g.110209921A>C - - COL4A1_000024 - - - rs2166207 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.616-11G>C r.(=) p.(=) Parent #1 - benign g.110861785C>G g.110209438C>G - - COL4A1_000023 also found in controls - - rs645114 Germline - - - 0 - DNA SEQ - - MEOAL - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.616-11G>C r.(=) p.(=) Unknown - benign g.110861785C>G g.110209438C>G COL4A1(NM_001845.5):c.616-11G>C, COL4A1(NM_001845.6):c.616-11G>C - COL4A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.616-11G>C r.(=) p.(=) Unknown - benign g.110861785C>G g.110209438C>G COL4A1(NM_001845.5):c.616-11G>C, COL4A1(NM_001845.6):c.616-11G>C - COL4A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.616-11G>C r.(=) p.(=) Unknown - benign g.110861785C>G g.110209438C>G COL4A1(NM_001845.5):c.616-11G>C, COL4A1(NM_001845.6):c.616-11G>C - COL4A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.633C>T r.(?) p.(Pro211=) Unknown - likely benign g.110861757G>A - COL4A1(NM_001845.5):c.633C>T (p.P211=) - COL4A1_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.634G>A r.(?) p.(Gly212Ser) Unknown - VUS g.110861756C>T g.110209409C>T - - COL4A1_000230 - PubMed: Zhu 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES ? Trio103 PubMed: Zhu 2015 - M - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.651+4_651+5insCAC r.spl? p.? Unknown - likely benign g.110861734_110861735insGTG - COL4A1(NM_001845.4):c.651+4_651+5insCAC (p.?) - COL4A1_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.651+68A>C r.(=) p.(=) Unknown - benign g.110861671T>G g.110209324T>G COL4A1(NM_001845.5):c.651+68A>C - COL4A1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.651+68A>G r.(=) p.(=) Parent #1 - benign g.110861671T>C g.110209324T>C - - COL4A1_000022 - - - rs7333204 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.651+69C>T r.(=) p.(=) Parent #1 - benign g.110861670G>A g.110209323G>A - - COL4A1_000021 - - - rs7332120 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.651+69C>T r.(=) p.(=) Unknown - benign g.110861670G>A g.110209323G>A COL4A1(NM_001845.5):c.651+69C>T - COL4A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.651+87_651+88insTT r.(=) p.(=) Unknown - benign g.110861652_110861653insAA g.110209305_110209306insAA COL4A1(NM_001845.5):c.651+87_651+88insTT - COL4A1_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.651+88C>T r.(=) p.(=) Parent #1 - benign g.110861651G>A g.110209304G>A - - COL4A1_000020 - - - rs61963269 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.651+90C>G r.(=) p.(=) Unknown - benign g.110861649G>C g.110209302G>C COL4A1(NM_001845.5):c.651+90C>G - COL4A1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.651+90_651+91insGT r.(=) p.(=) Parent #1 - benign g.110861648_110861649insAC g.110209301_110209302insAC - - COL4A1_000019 - - - rs67015393 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.651+115_651+118dup r.(=) p.(=) Parent #1 - VUS g.110861621_110861624dup g.110209274_110209277dup - - COL4A1_000017 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.651+117A>T r.(=) p.(=) Parent #1 - benign g.110861622T>A g.110209275T>A - - COL4A1_000018 - - - rs113512066 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.651+179A>G r.(=) p.(=) Parent #1 - benign g.110861560T>C g.110209213T>C - - COL4A1_000016 - - - rs7333008 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.690C>T r.(=) p.(=) Parent #1 - benign g.110861199G>A g.110208852G>A - - COL4A1_000015 - - - rs14988210 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.690C>T r.(?) p.(Asp230=) Unknown - likely benign g.110861199G>A g.110208852G>A COL4A1(NM_001845.5):c.690C>T (p.D230=) - COL4A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.694-5G>A r.spl? p.? Unknown - likely benign g.110859841C>T - COL4A1(NM_001845.5):c.694-5G>A - COL4A1_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>G r.(?) p.(Val236=) Unknown - likely benign g.110859822G>C - COL4A1(NM_001845.5):c.708C>G (p.V236=), COL4A1(NM_001845.6):c.708C>G (p.V236=) - COL4A1_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>G r.(?) p.(Val236=) Unknown - likely benign g.110859822G>C - COL4A1(NM_001845.5):c.708C>G (p.V236=), COL4A1(NM_001845.6):c.708C>G (p.V236=) - COL4A1_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.780+7G>A r.(=) p.(=) Parent #1 - benign g.110859743C>T g.110207396C>T - - COL4A1_000014 also found in controls - - rs598893 Germline - - - 0 - DNA SEQ - - MEOAL - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.780+7G>A r.(=) p.(=) Unknown - benign g.110859743C>T g.110207396C>T COL4A1(NM_001845.5):c.780+7G>A, COL4A1(NM_001845.6):c.780+7G>A - COL4A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.780+7G>A r.(=) p.(=) Unknown - benign g.110859743C>T g.110207396C>T COL4A1(NM_001845.5):c.780+7G>A, COL4A1(NM_001845.6):c.780+7G>A - COL4A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.780+7G>A r.(=) p.(=) Unknown - benign g.110859743C>T g.110207396C>T COL4A1(NM_001845.5):c.780+7G>A, COL4A1(NM_001845.6):c.780+7G>A - COL4A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.780+60T>C r.(=) p.(=) Parent #1 - VUS g.110859690A>G g.110207343A>G - - COL4A1_000013 also found in controls - - - Germline - - - 0 - DNA SEQ - - MEOAL - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.807+69_807+70delinsA r.(=) p.(=) Unknown - benign g.110859142_110859143delinsT g.110206795_110206796delinsT COL4A1(NM_001845.5):c.807+69_807+70delTCinsA - COL4A1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.808-28_808-27dup r.(=) p.(=) Unknown - benign g.110859090_110859091dup g.110206743_110206744dup COL4A1(NM_001845.5):c.808-28_808-27dupAA - COL4A1_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.808-7C>A r.(=) p.(=) Unknown - benign g.110859069G>T g.110206722G>T COL4A1(NM_001845.4):c.808-7C>A (p.(=)) - COL4A1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.808-7C>A r.(=) p.(=) Unknown - likely benign g.110859069G>T g.110206722G>T COL4A1(NM_001845.4):c.808-7C>A (p.(=)) - COL4A1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.808-7C>G r.(=) p.(=) Parent #1 - benign g.110859069G>C g.110206722G>C - - COL4A1_000012 - - - rs9588116 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.808-7C>G r.(=) p.(=) Unknown - benign g.110859069G>C g.110206722G>C COL4A1(NM_001845.5):c.808-7C>G, COL4A1(NM_001845.6):c.808-7C>G - COL4A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.808-7C>G r.(=) p.(=) Unknown - benign g.110859069G>C g.110206722G>C COL4A1(NM_001845.5):c.808-7C>G, COL4A1(NM_001845.6):c.808-7C>G - COL4A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.811A>G r.(?) p.(Met271Val) Unknown - likely benign g.110859059T>C - COL4A1(NM_001845.6):c.811A>G (p.M271V) - COL4A1_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.817G>C r.(?) p.(Gly273Arg) Unknown - VUS g.110859053C>G g.110206706C>G COL4A1(NM_001845.4):c.817G>C (p.(Gly273Arg)) - COL4A1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.858+20C>T r.(=) p.(=) Unknown - benign g.110858992G>A g.110206645G>A COL4A1(NM_001845.5):c.858+20C>T - COL4A1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.859-22C>T r.(=) p.(=) Unknown - benign g.110857907G>A g.110205560G>A COL4A1(NM_001845.5):c.859-22C>T - COL4A1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.859-15A>G r.(=) p.(=) Unknown - benign g.110857900T>C g.110205553T>C COL4A1(NM_001845.5):c.859-15A>G - COL4A1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.859-10T>C r.(=) p.(=) Parent #1 - benign g.110857895A>G g.110205548A>G - - COL4A1_000011 also found in controls - - rs677877 Germline - - - 0 - DNA SEQ - - MEOAL - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.859-10T>C r.(=) p.(=) Unknown - benign g.110857895A>G g.110205548A>G COL4A1(NM_001845.5):c.859-10T>C, COL4A1(NM_001845.6):c.859-10T>C - COL4A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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