Full data view for gene DCHS1

Information The variants shown are described using the NM_003737.2 transcript reference sequence.

534 entries on 6 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.? r.(?) p.(Ala2216Val) Unknown - VUS g.? - - - DRD4_000002 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K13 PubMed: Heidet 2017 fetus - - France - - - - - 1 Johan den Dunnen
+?/. - c.? r.(?) p.(Gln1714*) Unknown - VUS g.? - - - DRD4_000002 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K159 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
?/. - c.? r.(?) p.(Thr930Ser) Unknown - VUS g.? - - - DRD4_000002 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K60 PubMed: Heidet 2017 fetus - - France - - - - - 1 Johan den Dunnen
?/. - c.? r.(?) p.(Val290Leu) Unknown - VUS g.? - - - DRD4_000002 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K86 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
-?/. - c.22G>C r.(?) p.(Val8Leu) Unknown - likely benign g.6662823C>G g.6641592C>G DCHS1(NM_003737.2):c.22G>C (p.(Val8Leu)) - DCHS1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58C>T r.(?) p.(His20Tyr) Unknown - likely benign g.6662787G>A - DCHS1(NM_003737.4):c.58C>T (p.(His20Tyr)) - DCHS1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.91_99del r.(?) p.(Leu31_Leu33del) Unknown - likely benign g.6662763_6662771del g.6641532_6641540del DCHS1(NM_003737.2):c.91_99del (p.(Leu31_Leu33del)) - DCHS1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97_99del r.(?) p.(Leu33del) Unknown - benign g.6662769_6662771del g.6641538_6641540del DCHS1(NM_003737.4):c.97_99delCTG (p.L33del) - DCHS1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97_99del r.(?) p.(Leu33del) Unknown - likely benign g.6662769_6662771del g.6641538_6641540del DCHS1(NM_003737.4):c.97_99delCTG (p.L33del) - DCHS1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97_99del r.(?) p.(Leu33del) Unknown - benign g.6662769_6662771del - DCHS1(NM_003737.4):c.97_99delCTG (p.L33del) - DCHS1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97_99dup r.(?) p.(Leu33dup) Unknown - benign g.6662769_6662771dup g.6641538_6641540dup DCHS1(NM_003737.2):c.95_97dupCTG (p.L33dup), DCHS1(NM_003737.2):c.97_99dup (p.(Leu33dup)), DCHS1(NM_003737.2):c.97_99dupCTG (p.L33dup), DCHS1(NM_0...) - DCHS1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97_99dup r.(?) p.(Leu33dup) Unknown - benign g.6662769_6662771dup g.6641538_6641540dup DCHS1(NM_003737.2):c.95_97dupCTG (p.L33dup), DCHS1(NM_003737.2):c.97_99dup (p.(Leu33dup)), DCHS1(NM_003737.2):c.97_99dupCTG (p.L33dup), DCHS1(NM_0...) - DCHS1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97_99dup r.(?) p.(Leu33dup) Unknown - likely benign g.6662769_6662771dup g.6641538_6641540dup DCHS1(NM_003737.2):c.95_97dupCTG (p.L33dup), DCHS1(NM_003737.2):c.97_99dup (p.(Leu33dup)), DCHS1(NM_003737.2):c.97_99dupCTG (p.L33dup), DCHS1(NM_0...) - DCHS1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101_103del r.(?) p.(Gly34del) Unknown - VUS g.6662744_6662746del - DCHS1(NM_003737.2):c.97_99delCTG (p.(Leu33del)) - DCHS1_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.101_103dup r.(?) p.(Gly34dup) Unknown - likely benign g.6662744_6662746dup - DCHS1(NM_003737.2):c.94_96dupCTG (p.(Leu32dup)) - DCHS1_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.171G>A r.(?) p.(=) Unknown - VUS g.6662674C>T - DCHS1(NM_003737.2):c.171G>A (p.A57=) - DCHS1_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186C>T r.(?) p.(=) Unknown - likely benign g.6662659G>A g.6641428G>A DCHS1(NM_003737.2):c.186C>T (p.G62=) - DCHS1_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212G>C r.(?) p.(Gly71Ala) Unknown - VUS g.6662633C>G - DCHS1(NM_003737.2):c.212G>C (p.G71A) - DCHS1_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.281T>C r.(?) p.(Ile94Thr) Unknown - likely pathogenic g.6662564A>G - DCHS1(NM_003737.4):c.281T>C (p.I94T) - DCHS1_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.286G>A r.(?) p.(Glu96Lys) Unknown - VUS g.6662559C>T g.6641328C>T DCHS1(NM_003737.2):c.286G>A (p.E96K) - DCHS1_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289C>A r.(?) p.(His97Asn) Unknown - likely benign g.6662556G>T - DCHS1(NM_003737.2):c.286G>A (p.(Glu96Lys)) - DCHS1_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300C>T r.(?) p.(=) Unknown - likely benign g.6662545G>A g.6641314G>A DCHS1(NM_003737.2):c.300C>T (p.V100=) - DCHS1_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301G>A r.(?) p.(Val101Ile) Unknown - VUS g.6662544C>T g.6641313C>T DCHS1(NM_003737.2):c.301G>A (p.V101I) - DCHS1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313C>T r.(?) p.(Arg105Cys) Unknown - VUS g.6662532G>A g.6641301G>A - - DCHS1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379G>A r.(?) p.(Val127Ile) Unknown - benign g.6662466C>T g.6641235C>T DCHS1(NM_003737.2):c.379G>A (p.V127I), DCHS1(NM_003737.4):c.379G>A (p.V127I) - DCHS1_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379G>A r.(?) p.(Val127Ile) Unknown - VUS g.6662466C>T g.6641235C>T DCHS1(NM_003737.2):c.379G>A (p.V127I), DCHS1(NM_003737.4):c.379G>A (p.V127I) - DCHS1_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379G>A r.(?) p.(Val127Ile) Unknown - benign g.6662466C>T - DCHS1(NM_003737.2):c.379G>A (p.V127I), DCHS1(NM_003737.4):c.379G>A (p.V127I) - DCHS1_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.382G>A r.(?) p.(Glu128Lys) Unknown - likely benign g.6662463C>T - DCHS1(NM_003737.2):c.379G>A (p.(Val127Ile)) - DCHS1_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.391G>T r.(?) p.(Val131Leu) Unknown - likely benign g.6662454C>A g.6641223C>A DCHS1(NM_003737.2):c.391G>T (p.(Val131Leu)) - DCHS1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.439C>T r.(?) p.(Arg147Trp) Unknown - likely pathogenic g.6662406G>A g.6641175G>A DCHS1(NM_003737.2):c.439C>T (p.(Arg147Trp)) - DCHS1_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482G>A r.(?) p.(Arg161His) Unknown - VUS g.6662363C>T g.6641132C>T DCHS1(NM_003737.2):c.482G>A (p.R161H), DCHS1(NM_003737.4):c.482G>A (p.R161H) - DCHS1_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482G>A r.(?) p.(Arg161His) Unknown - VUS g.6662363C>T g.6641132C>T DCHS1(NM_003737.2):c.482G>A (p.R161H), DCHS1(NM_003737.4):c.482G>A (p.R161H) - DCHS1_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.503G>A r.(?) p.(Arg168His) Unknown - likely benign g.6662342C>T g.6641111C>T DCHS1(NM_003737.2):c.503G>A (p.(Arg168His)) - DCHS1_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.520C>T r.(?) p.(Arg174Cys) Unknown - VUS g.6662325G>A - DCHS1(NM_003737.2):c.517G>T (p.(Gly173Trp)) - DCHS1_000369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.543G>A r.(?) p.(=) Unknown - benign g.6662302C>T g.6641071C>T DCHS1(NM_003737.2):c.543G>A (p.A181=), DCHS1(NM_003737.4):c.543G>A (p.A181=) - DCHS1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(=) Unknown - likely benign g.6662302C>T g.6641071C>T DCHS1(NM_003737.2):c.543G>A (p.A181=), DCHS1(NM_003737.4):c.543G>A (p.A181=) - DCHS1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546A>G r.(?) p.(=) Unknown - likely benign g.6662299T>C g.6641068T>C DCHS1(NM_003737.4):c.546A>G (p.L182=) - DCHS1_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.575G>A r.(?) p.(Arg192Gln) Unknown - likely benign g.6662270C>T - DCHS1(NM_003737.2):c.575G>A (p.R192Q) - DCHS1_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590C>T r.(?) p.(Pro197Leu) Unknown - VUS g.6662255G>A g.6641024G>A DCHS1(NM_003737.2):c.590C>T (p.P197L, p.(Pro197Leu)), DCHS1(NM_003737.4):c.590C>T (p.P197L) - DCHS1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.590C>T r.(?) p.(Pro197Leu) Unknown - likely benign g.6662255G>A g.6641024G>A DCHS1(NM_003737.2):c.590C>T (p.P197L, p.(Pro197Leu)), DCHS1(NM_003737.4):c.590C>T (p.P197L) - DCHS1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590C>T r.(?) p.(Pro197Leu) Unknown - VUS g.6662255G>A - DCHS1(NM_003737.2):c.590C>T (p.P197L, p.(Pro197Leu)), DCHS1(NM_003737.4):c.590C>T (p.P197L) - DCHS1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.596C>G r.(?) p.(Pro199Arg) Unknown - benign g.6662249G>C g.6641018G>C DCHS1(NM_003737.2):c.596C>G (p.P199R, p.(Pro199Arg)), DCHS1(NM_003737.4):c.596C>G (p.P199R) - DCHS1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.596C>G r.(?) p.(Pro199Arg) Unknown - likely benign g.6662249G>C g.6641018G>C DCHS1(NM_003737.2):c.596C>G (p.P199R, p.(Pro199Arg)), DCHS1(NM_003737.4):c.596C>G (p.P199R) - DCHS1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.596C>G r.(?) p.(Pro199Arg) Unknown - likely benign g.6662249G>C - DCHS1(NM_003737.2):c.596C>G (p.P199R, p.(Pro199Arg)), DCHS1(NM_003737.4):c.596C>G (p.P199R) - DCHS1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.653G>A r.(?) p.(Arg218His) Unknown - VUS g.6662192C>T g.6640961C>T DCHS1(NM_003737.2):c.653G>A (p.R218H) - DCHS1_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.683A>G r.(?) p.(Tyr228Cys) Unknown - VUS g.6662162T>C - DCHS1(NM_003737.4):c.683A>G (p.Y228C) - DCHS1_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.701C>A r.(?) p.(Pro234His) Unknown - VUS g.6662144G>T - DCHS1(NM_003737.2):c.701C>A (p.P234H) - DCHS1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.703C>T r.(?) p.(Arg235Trp) Unknown - VUS g.6662142G>A - DCHS1(NM_003737.4):c.703C>T (p.R235W) - DCHS1_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.704G>A r.(?) p.(Arg235Gln) Unknown - VUS g.6662141C>T g.6640910C>T - - DCHS1_000002 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs143767864 Germline ? - - - - DNA SEQ-NG-I - - SIDS SIDS061 PubMed: Neubauer 2017 Journal: Neubauer 2017 - M ? Switzerland Europe 00y04m - - - 1 Cordula Haas
?/. - c.704G>A r.(?) p.(Arg235Gln) Unknown - VUS g.6662141C>T g.6640910C>T DCHS1(NM_003737.2):c.704G>A (p.R235Q), DCHS1(NM_003737.4):c.704G>A (p.R235Q) - DCHS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.704G>A r.(?) p.(Arg235Gln) Unknown - VUS g.6662141C>T g.6640910C>T DCHS1(NM_003737.2):c.704G>A (p.R235Q), DCHS1(NM_003737.4):c.704G>A (p.R235Q) - DCHS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.704G>A r.(?) p.(Arg235Gln) Unknown - likely benign g.6662141C>T - DCHS1(NM_003737.2):c.704G>A (p.R235Q), DCHS1(NM_003737.4):c.704G>A (p.R235Q) - DCHS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.707G>A r.(?) p.(Arg236Lys) Unknown - VUS g.6662138C>T - DCHS1(NM_003737.2):c.704G>A (p.(Arg235Gln)) - DCHS1_000368 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.759G>A r.(?) p.(=) Unknown - likely benign g.6662086C>T g.6640855C>T DCHS1(NM_003737.2):c.759G>A (p.P253=) - DCHS1_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789G>A r.(?) p.(=) Unknown - likely benign g.6662056C>T g.6640825C>T DCHS1(NM_003737.2):c.789G>A (p.V263=) - DCHS1_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789G>C r.(?) p.(=) Unknown - likely benign g.6662056C>G g.6640825C>G DCHS1(NM_003737.2):c.789G>C (p.V263=) - DCHS1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822C>T r.(?) p.(=) Unknown - likely benign g.6662023G>A g.6640792G>A DCHS1(NM_003737.2):c.822C>T (p.V274=) - DCHS1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.834C>T r.(?) p.(=) Unknown - likely benign g.6662011G>A g.6640780G>A DCHS1(NM_003737.2):c.834C>T (p.F278=) - DCHS1_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.886C>G r.(?) p.(Arg296Gly) Unknown - VUS g.6661959G>C g.6640728G>C DCHS1(NM_003737.2):c.886C>G (p.R296G) - DCHS1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.932C>T r.(?) p.(Thr311Met) Unknown - VUS g.6661913G>A - DCHS1(NM_003737.4):c.932C>T (p.(Thr311Met)) - DCHS1_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.949G>A r.(?) p.(Glu317Lys) Unknown - VUS g.6661896C>T g.6640665C>T DCHS1(NM_003737.2):c.949G>A (p.E317K) - DCHS1_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.955C>T r.(?) p.(Pro319Ser) Unknown - likely benign g.6661890G>A - DCHS1(NM_003737.2):c.952C>T (p.(Arg318Trp)) - DCHS1_000367 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1010G>A r.(?) p.(Gly337Asp) Unknown - VUS g.6661835C>T - DCHS1(NM_003737.4):c.1010G>A (p.G337D) - DCHS1_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1032C>T r.(?) p.(=) Unknown - likely benign g.6661813G>A g.6640582G>A DCHS1(NM_003737.2):c.1032C>T (p.G344=), DCHS1(NM_003737.4):c.1032C>T (p.G344=) - DCHS1_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1032C>T r.(?) p.(=) Unknown - likely benign g.6661813G>A - DCHS1(NM_003737.2):c.1032C>T (p.G344=), DCHS1(NM_003737.4):c.1032C>T (p.G344=) - DCHS1_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1058G>A r.(?) p.(Arg353Gln) Unknown - VUS g.6661787C>T g.6640556C>T DCHS1(NM_003737.2):c.1058G>A (p.R353Q) - DCHS1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101C>T r.(?) p.(=) Unknown - likely benign g.6661744G>A g.6640513G>A DCHS1(NM_003737.2):c.1101C>T (p.L367=) - DCHS1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122A>G r.(?) p.(=) Unknown - benign g.6661723T>C g.6640492T>C DCHS1(NM_003737.2):c.1122A>G (p.Q374=), DCHS1(NM_003737.4):c.1122A>G (p.Q374=) - DCHS1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122A>G r.(?) p.(=) Unknown - benign g.6661723T>C - DCHS1(NM_003737.2):c.1122A>G (p.Q374=), DCHS1(NM_003737.4):c.1122A>G (p.Q374=) - DCHS1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1208T>G r.(?) p.(Val403Gly) Unknown - VUS g.6661637A>C - DCHS1(NM_003737.2):c.1205A>G (p.(Asn402Ser)) - DCHS1_000366 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1245C>A r.(?) p.(Ser415Arg) Unknown - VUS g.6661600G>T g.6640369G>T DCHS1(NM_003737.2):c.1245C>A (p.S415R, p.(Ser415Arg)), DCHS1(NM_003737.4):c.1245C>A (p.S415R) - DCHS1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1245C>A r.(?) p.(Ser415Arg) Unknown - likely benign g.6661600G>T g.6640369G>T DCHS1(NM_003737.2):c.1245C>A (p.S415R, p.(Ser415Arg)), DCHS1(NM_003737.4):c.1245C>A (p.S415R) - DCHS1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1245C>A r.(?) p.(Ser415Arg) Unknown - benign g.6661600G>T - DCHS1(NM_003737.2):c.1245C>A (p.S415R, p.(Ser415Arg)), DCHS1(NM_003737.4):c.1245C>A (p.S415R) - DCHS1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1283G>A r.(?) p.(Arg428Gln) Unknown - VUS g.6661562C>T g.6640331C>T DCHS1(NM_003737.2):c.1283G>A (p.R428Q) - DCHS1_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286G>A r.(?) p.(Arg429Gln) Unknown - VUS g.6661559C>T - DCHS1(NM_003737.4):c.1286G>A (p.R429Q) - DCHS1_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1313A>G r.(?) p.(Tyr438Cys) Unknown - VUS g.6661532T>C - - - DCHS1_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1383C>A r.(?) p.(His461Gln) Unknown - VUS g.6661462G>T - DCHS1(NM_003737.4):c.1383C>A (p.H461Q) - DCHS1_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1398C>T r.(?) p.(=) Unknown - benign g.6661447G>A g.6640216G>A DCHS1(NM_003737.2):c.1398C>T (p.N466=), DCHS1(NM_003737.4):c.1398C>T (p.N466=, p.(Asn466=)) - DCHS1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398C>T r.(?) p.(=) Unknown - likely benign g.6661447G>A g.6640216G>A DCHS1(NM_003737.2):c.1398C>T (p.N466=), DCHS1(NM_003737.4):c.1398C>T (p.N466=, p.(Asn466=)) - DCHS1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398C>T r.(?) p.(=) Unknown - likely benign g.6661447G>A - DCHS1(NM_003737.2):c.1398C>T (p.N466=), DCHS1(NM_003737.4):c.1398C>T (p.N466=, p.(Asn466=)) - DCHS1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1425G>C r.(?) p.(Gln475His) Unknown - VUS g.6661420C>G - DCHS1(NM_003737.2):c.1425G>C (p.Q475H) - DCHS1_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1457C>T r.(?) p.(Ala486Val) Unknown - VUS g.6661388G>A g.6640157G>A DCHS1(NM_003737.2):c.1457C>T (p.A486V) - DCHS1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1458G>A r.(?) p.(=) Unknown - likely benign g.6661387C>T - DCHS1(NM_003737.2):c.1458G>A (p.A486=) - DCHS1_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1467C>A r.(?) p.(=) Unknown - likely benign g.6661378G>T - DCHS1(NM_003737.2):c.1467C>A (p.G489=) - DCHS1_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1493G>A r.(?) p.(Arg498Gln) Unknown - likely benign g.6661352C>T g.6640121C>T DCHS1(NM_003737.2):c.1493G>A (p.R498Q, p.(Arg498Gln)), DCHS1(NM_003737.4):c.1493G>A (p.R498Q) - DCHS1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1493G>A r.(?) p.(Arg498Gln) Unknown - likely benign g.6661352C>T g.6640121C>T DCHS1(NM_003737.2):c.1493G>A (p.R498Q, p.(Arg498Gln)), DCHS1(NM_003737.4):c.1493G>A (p.R498Q) - DCHS1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1493G>A r.(?) p.(Arg498Gln) Unknown - likely benign g.6661352C>T - DCHS1(NM_003737.2):c.1493G>A (p.R498Q, p.(Arg498Gln)), DCHS1(NM_003737.4):c.1493G>A (p.R498Q) - DCHS1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1521G>C r.(?) p.(Gln507His) Unknown - VUS g.6661324C>G g.6640093C>G DCHS1(NM_003737.2):c.1521G>C (p.Q507H, p.(Gln507His)) - DCHS1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1521G>C r.(?) p.(Gln507His) Unknown - likely benign g.6661324C>G g.6640093C>G DCHS1(NM_003737.2):c.1521G>C (p.Q507H, p.(Gln507His)) - DCHS1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1545C>T r.(?) p.(=) Unknown - likely benign g.6661300G>A g.6640069G>A DCHS1(NM_003737.2):c.1545C>T (p.G515=), DCHS1(NM_003737.4):c.1545C>T (p.G515=) - DCHS1_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1545C>T r.(?) p.(=) Unknown - likely benign g.6661300G>A - DCHS1(NM_003737.2):c.1545C>T (p.G515=), DCHS1(NM_003737.4):c.1545C>T (p.G515=) - DCHS1_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1545C>T r.(?) p.(=) Unknown - likely benign g.6661300G>A - DCHS1(NM_003737.2):c.1545C>T (p.G515=), DCHS1(NM_003737.4):c.1545C>T (p.G515=) - DCHS1_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1546G>A r.(?) p.(Ala516Thr) Unknown - likely benign g.6661299C>T g.6640068C>T DCHS1(NM_003737.2):c.1546G>A (p.A516T) - DCHS1_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1575dup r.(?) p.(Thr526Hisfs*14) Unknown - VUS g.6661273dup - DCHS1(NM_003737.4):c.1575dupC (p.T526Hfs*14) - DCHS1_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1640T>C r.(?) p.(Ile547Thr) Unknown - likely benign g.6661205A>G g.6639974A>G DCHS1(NM_003737.2):c.1640T>C (p.I547T) - DCHS1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1656T>C r.(?) p.(=) Unknown - likely benign g.6661189A>G g.6639958A>G DCHS1(NM_003737.2):c.1656T>C (p.D552=) - DCHS1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1661G>A r.(?) p.(Gly554Asp) Unknown - likely benign g.6661184C>T - DCHS1(NM_003737.2):c.1658G>A (p.(Gly553Asp)) - DCHS1_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1675G>T r.(?) p.(Ala559Ser) Unknown - benign g.6661170C>A g.6639939C>A DCHS1(NM_003737.2):c.1675G>T (p.A559S), DCHS1(NM_003737.4):c.1675G>T (p.(Ala559Ser)) - DCHS1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1675G>T r.(?) p.(Ala559Ser) Unknown - benign g.6661170C>A - DCHS1(NM_003737.2):c.1675G>T (p.A559S), DCHS1(NM_003737.4):c.1675G>T (p.(Ala559Ser)) - DCHS1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1679C>T r.(?) p.(Ser560Phe) Unknown - VUS g.6661166G>A - DCHS1(NM_003737.2):c.1679C>T (p.S560F) - DCHS1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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