Full data view for gene DUOXA2

Information The variants shown are described using the NM_207581.3 transcript reference sequence.

181 entries on 2 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.-20438_-20436del r.(?) p.(=) Unknown - VUS g.45386366_45386368del - DUOX2(NM_001363711.2):c.4630_4632delCAC (p.H1544del) - DUOX2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-20422C>T r.(?) p.(=) Unknown - likely benign g.45386382C>T - DUOX2(NM_001363711.1):c.4613G>A (p.R1538Q) - DUOX2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-20362C>G r.(?) p.(=) Unknown - likely pathogenic g.45386442C>G g.45094244C>G DUOX2(NM_014080.5):c.4553G>C (p.G1518A) - DUOX2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-20361C>T r.(?) p.(=) Unknown - pathogenic g.45386443C>T g.45094245C>T DUOX2(NM_014080.5):c.4552G>A (p.G1518S) - DUOX2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-20000G>C r.(?) p.(=) Unknown - VUS g.45386804G>C g.45094606G>C DUOX2(NM_014080.5):c.4481C>G (p.P1494R) - DUOX2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-19998G>C r.(?) p.(=) Unknown - benign g.45386806G>C g.45094608G>C DUOX2(NM_014080.5):c.4479C>G (p.P1493=) - DUOX2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-19965C>T r.(?) p.(=) Unknown - likely benign g.45386839C>T - DUOX2(NM_001363711.1):c.4446G>A (p.T1482=) - DUOX2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19652G>T r.(?) p.(=) Unknown - VUS g.45387152G>T g.45094954G>T DUOX2(NM_014080.5):c.4377C>A (p.D1459E) - DUOX2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19137A>T r.(?) p.(=) Unknown - VUS g.45387667A>T g.45095469A>T DUOX2(NM_014080.5):c.4207T>A (p.S1403T) - DUOX2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-19049C>A r.(?) p.(=) Unknown - likely benign g.45387755C>A g.45095557C>A DUOX2(NM_014080.4):c.4119G>T (p.E1373D) - DUOX2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-19010C>T r.(?) p.(=) Unknown - likely pathogenic g.45387794C>T g.45095596C>T DUOX2(NM_014080.4):c.4081-1G>A - DUOX2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-18785C>T r.(?) p.(=) Unknown - benign g.45388019C>T g.45095821C>T DUOX2(NM_014080.5):c.4080+7G>A - DUOX2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18784G>A r.(?) p.(=) Unknown - likely benign g.45388020G>A - DUOX2(NM_001363711.2):c.4080+6C>T - DUOX2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-18778C>A r.(?) p.(=) Unknown - VUS g.45388026C>A g.45095828C>A DUOX2(NM_001363711.2):c.4080G>T (p.K1360N) - DUOX2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-18725G>A r.(?) p.(=) Unknown - VUS g.45388079G>A - DUOX2(NM_001363711.2):c.4027C>T (p.L1343F) - DUOX2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-18666G>T r.(?) p.(=) Unknown - VUS g.45388138G>T g.45095940G>T DUOX2(NM_014080.5):c.3968C>A (p.A1323E) - DUOX2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-18664G>A r.(?) p.(=) Unknown - benign g.45388140G>A g.45095942G>A DUOX2(NM_014080.5):c.3966C>T (p.S1322=) - DUOX2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-18619G>A r.(?) p.(=) Unknown - benign g.45388185G>A - DUOX2(NM_001363711.2):c.3921C>T (p.C1307=) - DUOX2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-18554A>G r.(?) p.(=) Unknown - benign g.45388250A>G g.45096052A>G DUOX2(NM_014080.5):c.3856T>C (p.Y1286H) - DUOX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-18530A>G r.(?) p.(=) Unknown - benign g.45388274A>G g.45096076A>G DUOX2(NM_014080.5):c.3848-16T>C - DUOX2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-17351G>C r.(?) p.(=) Unknown - VUS g.45389453G>C g.45097255G>C DUOX2(NM_014080.5):c.3830C>G (p.A1277G) - DUOX2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-17280C>T r.(?) p.(=) Unknown - benign g.45389524C>T g.45097326C>T DUOX2(NM_001363711.2):c.3759G>A (p.(Pro1253=)), DUOX2(NM_014080.5):c.3759G>A (p.P1253=) - DUOX2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-17280C>T r.(?) p.(=) Unknown - likely benign g.45389524C>T - DUOX2(NM_001363711.2):c.3759G>A (p.(Pro1253=)), DUOX2(NM_014080.5):c.3759G>A (p.P1253=) - DUOX2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-17261T>A r.(?) p.(=) Unknown - VUS g.45389543T>A g.45097345T>A DUOX2(NM_014080.5):c.3740A>T (p.H1247L) - DUOX2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16966G>C r.(?) p.(=) Unknown - likely benign g.45389838G>C g.45097640G>C DUOX2(NM_014080.5):c.3667C>G (p.H1223D) - DUOX2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16945G>A r.(?) p.(=) Unknown - VUS g.45389859G>A - DUOX2(NM_014080.4):c.3646C>T (p.(Arg1216Trp)) - DUOX2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-16914G>A r.(?) p.(=) Unknown - benign g.45389890G>A g.45097692G>A DUOX2(NM_014080.5):c.3615C>T (p.F1205=) - DUOX2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-16590G>A r.(?) p.(=) Unknown - benign g.45390214G>A g.45098016G>A DUOX2(NM_014080.5):c.3558C>T (p.T1186=) - DUOX2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-15238A>T r.(?) p.(=) Unknown - benign g.45391566A>T g.45099368A>T DUOX2(NM_014080.4):c.3515+15T>A, DUOX2(NM_014080.5):c.3515+15T>A - DUOX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-15238A>T r.(?) p.(=) Unknown - benign g.45391566A>T g.45099368A>T DUOX2(NM_014080.4):c.3515+15T>A, DUOX2(NM_014080.5):c.3515+15T>A - DUOX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-15238A>T r.(?) p.(=) Unknown - benign g.45391566A>T g.45099368A>T DUOX2(NM_014080.4):c.3515+15T>A, DUOX2(NM_014080.5):c.3515+15T>A - DUOX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15164G>A r.(?) p.(=) Unknown - VUS g.45391640G>A - DUOX2(NM_001363711.2):c.3456C>T (p.F1152=) - DUOX2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-15143G>A r.(?) p.(=) Unknown - benign g.45391661G>A g.45099463G>A DUOX2(NM_014080.5):c.3435C>T (p.H1145=) - DUOX2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14919G>A r.(?) p.(=) Unknown - benign g.45391885G>A g.45099687G>A DUOX2(NM_014080.5):c.3390C>T (p.I1130=) - DUOX2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14896C>T r.(?) p.(=) Unknown - VUS g.45391908C>T - DUOX2(NM_001363711.2):c.3367G>A (p.A1123T), DUOX2(NM_014080.5):c.3367G>A (p.A1123T) - DUOX2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14896C>T r.(?) p.(=) Unknown - VUS g.45391908C>T - DUOX2(NM_001363711.2):c.3367G>A (p.A1123T), DUOX2(NM_014080.5):c.3367G>A (p.A1123T) - DUOX2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14843A>G r.(?) p.(=) Unknown - VUS g.45391961A>G g.45099763A>G DUOX2(NM_014080.4):c.3314T>C (p.L1105P) - DUOX2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14790C>T r.(?) p.(=) Unknown - benign g.45392014C>T g.45099816C>T DUOX2(NM_014080.5):c.3261G>A (p.A1087=) - DUOX2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-14779G>A r.(?) p.(=) Unknown - pathogenic g.45392025G>A g.45099827G>A DUOX2(NM_014080.5):c.3250C>T (p.R1084*) - DUOX2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14761C>T r.(?) p.(=) Unknown - VUS g.45392043C>T g.45099845C>T DUOX2(NM_001363711.2):c.3232G>A (p.V1078M) - DUOX2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14739C>T r.(?) p.(=) Unknown - VUS g.45392065C>T - DUOX2(NM_001363711.2):c.3210G>A (p.S1070=) - DUOX2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14729G>A r.(?) p.(=) Unknown - benign g.45392075G>A g.45099877G>A DUOX2(NM_014080.4):c.3200C>T (p.S1067L), DUOX2(NM_014080.5):c.3200C>T (p.S1067L) - DUOX2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14729G>A r.(?) p.(=) Unknown - benign g.45392075G>A g.45099877G>A DUOX2(NM_014080.4):c.3200C>T (p.S1067L), DUOX2(NM_014080.5):c.3200C>T (p.S1067L) - DUOX2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14729G>A r.(?) p.(=) Unknown - benign g.45392075G>A g.45099877G>A DUOX2(NM_014080.4):c.3200C>T (p.S1067L), DUOX2(NM_014080.5):c.3200C>T (p.S1067L) - DUOX2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14705G>A r.(?) p.(=) Unknown - benign g.45392099G>A g.45099901G>A DUOX2(NM_014080.5):c.3185-9C>T - DUOX2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14547G>A r.(?) p.(=) Unknown - VUS g.45392257G>A g.45100059G>A DUOX2(NM_014080.4):c.3175C>T (p.R1059C) - DUOX2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14527C>T r.(?) p.(=) Unknown - VUS g.45392277C>T - DUOX2(NM_001363711.2):c.3155G>A (p.C1052Y) - DUOX2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14519C>A r.(?) p.(=) Unknown - benign g.45392285C>A - DUOX2(NM_001363711.2):c.3147G>T (p.S1049=) - DUOX2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14475C>T r.(?) p.(=) Unknown - likely benign g.45392329C>T - DUOX2(NM_014080.4):c.3103G>A (p.(Val1035Met)) - DUOX2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14453C>T r.(?) p.(=) Unknown - benign g.45392351C>T g.45100153C>T DUOX2(NM_014080.5):c.3081G>A (p.K1027=) - DUOX2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-14433G>A r.(?) p.(=) Unknown - pathogenic g.45392371G>A - DUOX2(NM_001363711.2):c.3061C>T (p.R1021*) - DUOX2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14427T>C r.(?) p.(=) Unknown - benign g.45392377T>C g.45100179T>C DUOX2(NM_014080.5):c.3055A>G (p.M1019V) - DUOX2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14422T>C r.(?) p.(=) Unknown - benign g.45392382T>C g.45100184T>C DUOX2(NM_001363711.1):c.3050A>G (p.E1017G), DUOX2(NM_014080.5):c.3050A>G (p.E1017G) - DUOX2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14422T>C r.(?) p.(=) Unknown - benign g.45392382T>C g.45100184T>C DUOX2(NM_001363711.1):c.3050A>G (p.E1017G), DUOX2(NM_014080.5):c.3050A>G (p.E1017G) - DUOX2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14414C>T r.(?) p.(=) Unknown - benign g.45392390C>T g.45100192C>T DUOX2(NM_014080.5):c.3042G>A (p.A1014=) - DUOX2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14413G>A r.(?) p.(=) Unknown - VUS g.45392391G>A g.45100193G>A DUOX2(NM_014080.5):c.3041C>T (p.A1014V) - DUOX2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14408T>C r.(?) p.(=) Unknown - likely benign g.45392396T>C - DUOX2(NM_014080.4):c.3036A>G (p.T1012=) - DUOX2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-14376T>C r.(?) p.(=) Unknown - likely pathogenic g.45392428T>C - DUOX2(NM_001363711.1):c.3006-2A>G, DUOX2(NM_014080.4):c.3006-2A>G - DUOX2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13790G>C r.(?) p.(=) Unknown - benign g.45393014G>C g.45100816G>C DUOX2(NM_014080.5):c.2944C>G (p.P982A) - DUOX2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13386C>T r.(?) p.(=) Unknown - likely benign g.45393418C>T - DUOX2(NM_001363711.2):c.2906G>A (p.R969Q) - DUOX2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-13376_-13373del r.(?) p.(=) Unknown - pathogenic g.45393428_45393431del g.45101230_45101233del DUOX2(NM_001363711.2):c.2895_2898delGTTC (p.F966Sfs*29), DUOX2(NM_014080.5):c.2895_2898delGTTC (p.F966Sfs*29) - DUOX2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-13376_-13373del r.(?) p.(=) Unknown - pathogenic g.45393428_45393431del - DUOX2(NM_001363711.2):c.2895_2898delGTTC (p.F966Sfs*29), DUOX2(NM_014080.5):c.2895_2898delGTTC (p.F966Sfs*29) - DUOX2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-13374G>A r.(?) p.(=) Unknown - VUS g.45393430G>A g.45101232G>A DUOX2(NM_001363711.2):c.2894C>T (p.S965L) - DUOX2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12797T>C r.(?) p.(=) Unknown - likely benign g.45394007T>C g.45101809T>C DUOX2(NM_001363711.2):c.2835A>G (p.G945=) - DUOX2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-12756C>T r.(?) p.(=) Unknown - VUS g.45394048C>T g.45101850C>T DUOX2(NM_001363711.2):c.2794G>A (p.D932N) - DUOX2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-12681_-12680del r.(?) p.(=) Unknown - likely pathogenic g.45394123_45394124del g.45101925_45101926del DUOX2(NM_014080.5):c.2719_2720delAT (p.M907Vfs*25) - DUOX2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-12666C>T r.(?) p.(=) Unknown - VUS g.45394138C>T - DUOX2(NM_001363711.1):c.2704G>A (p.E902K) - DUOX2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10646C>A r.(?) p.(=) Unknown - VUS g.45396158C>A - DUOX2(NM_001363711.2):c.2654G>T (p.R885L) - DUOX2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10610C>A r.(?) p.(=) Unknown - VUS g.45396194C>A g.45103996C>A DUOX2(NM_014080.5):c.2618G>T (p.G873V) - DUOX2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10450C>G r.(?) p.(=) Unknown - likely benign g.45396354C>G g.45104156C>G DUOX2(NM_001363711.1):c.2544G>C (p.L848=), DUOX2(NM_001363711.2):c.2544G>C (p.L848=) - DUOX2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-10450C>G r.(?) p.(=) Unknown - benign g.45396354C>G - DUOX2(NM_001363711.1):c.2544G>C (p.L848=), DUOX2(NM_001363711.2):c.2544G>C (p.L848=) - DUOX2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8973G>A r.(?) p.(=) Unknown - benign g.45397831G>A g.45105633G>A DUOX2(NM_014080.5):c.2334+10C>T - DUOX2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8919G>A r.(?) p.(=) Unknown - VUS g.45397885G>A - DUOX2(NM_001363711.2):c.2290C>T (p.R764W) - DUOX2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8915C>T r.(?) p.(=) Unknown - benign g.45397889C>T g.45105691C>T DUOX2(NM_014080.5):c.2286G>A (p.Q762=) - DUOX2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8811C>T r.(?) p.(=) Unknown - likely benign g.45397993C>T g.45105795C>T DUOX2(NM_014080.5):c.2182G>A (p.A728T) - DUOX2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8491C>T r.(?) p.(=) Unknown - benign g.45398313C>T g.45106115C>T DUOX2(NM_014080.5):c.2148+10G>A - DUOX2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8490G>A r.(?) p.(=) Unknown - benign g.45398314G>A g.45106116G>A DUOX2(NM_014080.5):c.2148+9C>T - DUOX2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8435C>T r.(?) p.(=) Unknown - benign g.45398369C>T g.45106171C>T DUOX2(NM_014080.5):c.2102G>A (p.R701Q) - DUOX2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8384A>T r.(?) p.(=) Unknown - VUS g.45398420A>T g.45106222A>T DUOX2(NM_014080.5):c.2051T>A (p.V684E) - DUOX2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8366T>C r.(?) p.(=) Unknown - likely benign g.45398438T>C g.45106240T>C DUOX2(NM_014080.5):c.2033A>G (p.H678R) - DUOX2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8295G>A r.(?) p.(=) Unknown - benign g.45398509G>A g.45106311G>A DUOX2(NM_014080.5):c.1962C>T (p.G654=) - DUOX2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8279G>T r.(?) p.(=) Unknown - VUS g.45398525G>T g.45106327G>T DUOX2(NM_014080.5):c.1946C>A (p.A649E) - DUOX2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8054C>T r.(?) p.(=) Unknown - likely benign g.45398750C>T - DUOX2(NM_001363711.1):c.1921G>A (p.E641K), DUOX2(NM_001363711.2):c.1921G>A (p.E641K) - DUOX2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8054C>T r.(?) p.(=) Unknown - likely benign g.45398750C>T - DUOX2(NM_001363711.1):c.1921G>A (p.E641K), DUOX2(NM_001363711.2):c.1921G>A (p.E641K) - DUOX2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8044G>A r.(?) p.(=) Unknown - benign g.45398760G>A g.45106562G>A DUOX2(NM_014080.5):c.1911C>T (p.S637=) - DUOX2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8028T>C r.(?) p.(=) Unknown - VUS g.45398776T>C g.45106578T>C DUOX2(NM_001363711.1):c.1895A>G (p.K632R), DUOX2(NM_014080.4):c.1895A>G (p.K632R) - DUOX2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-8006G>A r.(?) p.(=) Unknown - pathogenic g.45398798G>A g.45106600G>A DUOX2(NM_014080.5):c.1873C>T (p.R625*) - DUOX2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8001C>G r.(?) p.(=) Unknown - VUS g.45398803C>G - DUOX2(NM_001363711.2):c.1868G>C (p.R623P) - DUOX2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7729G>A r.(?) p.(=) Unknown - likely benign g.45399075G>A - DUOX2(NM_001363711.2):c.1786C>T (p.P596S) - DUOX2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7271C>T r.(?) p.(=) Unknown - benign g.45399533C>T g.45107335C>T DUOX2(NM_014080.5):c.1693+10G>A - DUOX2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7189G>T r.(?) p.(=) Unknown - benign g.45399615G>T - DUOX2(NM_001363711.2):c.1621C>A (p.R541=) - DUOX2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6532C>T r.(?) p.(=) Unknown - VUS g.45400272C>T g.45108074C>T DUOX2(NM_001363711.2):c.1547G>A (p.R516H) - DUOX2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-6513del r.(?) p.(=) Unknown - pathogenic g.45400291del - DUOX2(NM_001363711.2):c.1528delC (p.R510Gfs*76) - DUOX2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6501C>T r.(?) p.(=) Unknown - VUS g.45400303C>T g.45108105C>T DUOX2(NM_014080.5):c.1516G>A (p.D506N) - DUOX2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6466C>T r.(?) p.(=) Unknown - VUS g.45400338C>T g.45108140C>T DUOX2(NM_001363711.2):c.1481G>A (p.G494E) - DUOX2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6446C>G r.(?) p.(=) Unknown - benign g.45400358C>G g.45108160C>G DUOX2(NM_014080.4):c.1461G>C (p.G487=), DUOX2(NM_014080.5):c.1461G>C (p.G487=) - DUOX2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6446C>G r.(?) p.(=) Unknown - benign g.45400358C>G g.45108160C>G DUOX2(NM_014080.4):c.1461G>C (p.G487=), DUOX2(NM_014080.5):c.1461G>C (p.G487=) - DUOX2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6446C>G r.(?) p.(=) Unknown - benign g.45400358C>G g.45108160C>G DUOX2(NM_014080.4):c.1461G>C (p.G487=), DUOX2(NM_014080.5):c.1461G>C (p.G487=) - DUOX2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6408A>G r.(?) p.(=) Unknown - VUS g.45400396A>G g.45108198A>G DUOX2(NM_014080.5):c.1423T>C (p.Y475H) - DUOX2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6400G>T r.(?) p.(=) Unknown - VUS g.45400404G>T g.45108206G>T DUOX2(NM_001363711.2):c.1415C>A (p.A472D) - DUOX2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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