Full data view for gene AHI1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

167 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.-378G>T r.(?) p.(=) Unknown - benign g.135818897C>A g.135497759C>A - - AHI1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-54-6C>T r.(=) p.(=) Unknown - likely benign g.135813435G>A g.135492297G>A AHI1(NM_001134831.1):c.-54-6C>T - AHI1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-30C>A r.(?) p.(=) Unknown - VUS g.135813405G>T g.135492267G>T AHI1(NM_001134831.1):c.-30C>A - AHI1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.72T>C r.(?) p.(Ser24=) Unknown - benign g.135811824A>G g.135490686A>G AHI1(NM_001134831.1):c.72T>C (p.S24=) - AHI1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.96dup r.(?) p.(Leu33ThrfsTer9) Unknown - pathogenic g.135811805dup g.135490667dup AHI1(NM_001134831.1):c.96dupA (p.L33Tfs*9), AHI1(NM_017651.4):c.96dupA (p.L33Tfs*9) - AHI1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.96dup r.(?) p.(Leu33ThrfsTer9) Unknown - pathogenic g.135811805dup - AHI1(NM_001134831.1):c.96dupA (p.L33Tfs*9), AHI1(NM_017651.4):c.96dupA (p.L33Tfs*9) - AHI1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108A>G r.(?) p.(Lys36=) Unknown - likely benign g.135811788T>C g.135490650T>C AHI1(NM_001350503.1):c.108A>G (p.K36=) - AHI1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189+12T>C r.(=) p.(=) Unknown - likely benign g.135788707A>G g.135467569A>G AHI1(NM_001134831.1):c.189+12T>C - AHI1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.190-9T>C r.(=) p.(=) Unknown - likely benign g.135787520A>G g.135466382A>G AHI1(NM_001350503.1):c.190-9T>C - AHI1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190C>A r.(?) p.(Pro64Thr) Unknown - VUS g.135787511G>T g.135466373G>T AHI1(NM_001134831.1):c.190C>A (p.P64T) - AHI1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.198T>C r.(?) p.(Thr66=) Unknown - benign g.135787503A>G g.135466365A>G AHI1(NM_001134831.1):c.198T>C (p.T66=) - AHI1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202A>G r.(?) p.(Arg68Gly) Unknown - likely benign g.135787499T>C g.135466361T>C AHI1(NM_001134830.1):c.202A>G (p.(Arg68Gly)) - AHI1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.517G>A r.(?) p.(Ala173Thr) Unknown - benign g.135787184C>T g.135466046C>T AHI1(NM_001134831.1):c.517G>A (p.A173T), AHI1(NM_017651.4):c.517G>A (p.A173T) - AHI1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.517G>A r.(?) p.(Ala173Thr) Unknown - benign g.135787184C>T g.135466046C>T AHI1(NM_001134831.1):c.517G>A (p.A173T), AHI1(NM_017651.4):c.517G>A (p.A173T) - AHI1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.553G>T r.(?) p.(Asp185Tyr) Unknown - VUS g.135787148C>A g.135466010C>A AHI1(NM_001134831.1):c.553G>T (p.D185Y) - AHI1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.653A>G r.(?) p.(Tyr218Cys) Unknown - likely benign g.135787048T>C g.135465910T>C - - AHI1_000123 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.020 - 0 - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.708A>G r.(?) p.(Lys236=) Unknown - likely benign g.135786993T>C g.135465855T>C AHI1(NM_001134831.1):c.708A>G (p.=) - AHI1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.724C>T r.(?) p.(Pro242Ser) Unknown - benign g.135786977G>A g.135465839G>A AHI1(NM_001134831.1):c.724C>T (p.P242S) - AHI1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.724C>T r.(?) p.(Pro242Ser) Unknown - benign g.135786977G>A g.135465839G>A AHI1(NM_001134831.1):c.724C>T (p.P242S) - AHI1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.804A>C r.(?) p.(Ser268=) Unknown - likely benign g.135784390T>G g.135463252T>G AHI1(NM_001134831.1):c.804A>C (p.S268=) - AHI1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.868G>A r.(?) p.(Glu290Lys) Unknown - VUS g.135784326C>T g.135463188C>T AHI1(NM_001134831.1):c.868G>A (p.E290K) - AHI1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.901C>A r.(?) p.(Pro301Thr) Unknown - benign g.135784293G>T g.135463155G>T AHI1(NM_017651.4):c.901C>A (p.P301T) - AHI1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 8 c.911_912dup r.(?) p.(Lys305Glnfs*23) Parent #1 - likely pathogenic g.135784283_135784284dup g.135463145_135463146dup 910_911dup - AHI1_000008 - - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
+?/. 8 c.911_912dup r.(?) p.(Lys305Glnfs*23) Parent #2 - likely pathogenic g.135784283_135784284dup g.135463145_135463146dup 910_911dup - AHI1_000008 - - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
-/. - c.932-13dup r.(=) p.(=) Unknown - benign g.135778872dup g.135457734dup AHI1(NM_001134831.1):c.932-13dupT - AHI1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.985C>T r.(?) p.(Arg329*) Parent #2 - likely pathogenic g.135778798G>A g.135457660G>A - - AHI1_000009 - - - rs201391050 Unknown - - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
-?/. - c.986G>T r.(?) p.(Arg329Leu) Unknown - likely benign g.135778797C>A g.135457659C>A AHI1(NM_001134831.1):c.986G>T (p.R329L) - AHI1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.989A>G r.(?) p.(Asp330Gly) Unknown - VUS g.135778794T>C g.135457656T>C - - AHI1_000004 - - - - Germline - - - 0 - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.989A>G r.(?) p.(Asp330Gly) Unknown - VUS g.135778794T>C g.135457656T>C AHI1(NM_001134830.1):c.989A>G (p.(Asp330Gly)) - AHI1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.990T>C r.(?) p.(Asp330=) Unknown - likely benign g.135778793A>G g.135457655A>G AHI1(NM_001134831.1):c.990T>C (p.D330=) - AHI1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.990T>C r.(?) p.(Asp330=) Unknown - likely benign g.135778793A>G g.135457655A>G AHI1(NM_001134831.1):c.990T>C (p.D330=) - AHI1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1051C>T r.(?) p.(Arg351Ter) Both (homozygous) - pathogenic g.135778732G>A g.135457594G>A - - AHI1_000118 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 IMGAG
+/. - c.1052G>T r.(?) p.(Arg351Leu) Parent #1 - pathogenic g.135778731C>A g.135457593C>A - - AHI1_000119 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397514726 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
?/. - c.1093A>C r.(?) p.(Met365Leu) Unknown - VUS g.135778690T>G g.135457552T>G AHI1(NM_001350503.1):c.1093A>C (p.M365L) - AHI1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1145A>G r.(?) p.(Asp382Gly) Unknown - VUS g.135778638T>C g.135457500T>C AHI1(NM_001134831.1):c.1145A>G (p.D382G) - AHI1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1152-7dup r.(=) p.(=) Unknown - benign g.135777077dup g.135455939dup AHI1(NM_001134831.1):c.1152-7dupT - AHI1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1303C>T r.(?) p.(Arg435*) Parent #2 - likely pathogenic g.135776913G>A g.135455775G>A - - AHI1_000010 - - - rs121434349 Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
-?/. - c.1304G>A r.(?) p.(Arg435Gln) Unknown - likely benign g.135776912C>T g.135455774C>T AHI1(NM_001134830.1):c.1304G>A (p.(Arg435Gln)) - AHI1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1328T>A r.(?) p.(Val443Asp) Paternal (inferred) - pathogenic g.135776888A>T g.135455750A>T - - AHI1_000002 - - - - Germline - - - 0 - DNA PCR, SEQ - - JBTS-1 - - - - ? Saudi Arabia - - 0 - - 1 Anas M Alazami
+/. 10 c.1328T>A r.(?) p.(Val443Asp) Maternal (inferred) - pathogenic g.135776888A>T g.135455750A>T - - AHI1_000002 - - - - Germline - - - 0 - DNA PCR, SEQ - - JBTS-1 - - - - ? Saudi Arabia - - 0 - - 1 Anas M Alazami
-/. - c.1344+17_1344+54del r.(=) p.(=) Unknown - benign g.135776818_135776855del g.135455680_135455717del AHI1(NM_001134831.1):c.1344+17_1344+54del - AHI1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1405T>C r.(?) p.(Cys469Arg) Unknown - likely benign g.135774514A>G g.135453376A>G AHI1(NM_001134831.1):c.1405T>C (p.C469R) - AHI1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1546G>A r.(?) p.(Glu516Lys) Unknown - VUS g.135769508C>T g.135448370C>T AHI1(NM_001134830.1):c.1546G>A (p.(Glu516Lys)) - AHI1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1594G>A r.(?) p.(Val532Ile) Unknown - VUS g.135769460C>T g.135448322C>T AHI1(NM_001134831.1):c.1594G>A (p.V532I) - AHI1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1627-92T>A r.(=) p.(=) Unknown - benign g.135768390A>T g.135447252A>T AHI1(NM_017651.4):c.1627-92T>A - AHI1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1627-9C>G r.(=) p.(=) Unknown - benign g.135768307G>C g.135447169G>C AHI1(NM_001134831.1):c.1627-9C>G - AHI1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1643G>A r.(?) p.(Arg548His) Unknown - likely benign g.135768282C>T g.135447144C>T AHI1(NM_001134830.1):c.1643G>A (p.(Arg548His)), AHI1(NM_001134831.1):c.1643G>A (p.R548H) - AHI1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1643G>A r.(?) p.(Arg548His) Unknown - likely benign g.135768282C>T g.135447144C>T AHI1(NM_001134830.1):c.1643G>A (p.(Arg548His)), AHI1(NM_001134831.1):c.1643G>A (p.R548H) - AHI1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1643G>A r.(?) p.(Arg548His) Parent #1 - benign g.135768282C>T g.135447144C>T - - AHI1_000050 30 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35433555 Germline - 30/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 30 Mohammed Faruq
-/. - c.1680A>G r.(?) p.(Pro560=) Unknown - benign g.135768245T>C g.135447107T>C AHI1(NM_001134831.1):c.1680A>G (p.P560=) - AHI1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1686T>C r.(?) p.(His562=) Unknown - benign g.135768239A>G g.135447101A>G AHI1(NM_001134831.1):c.1686T>C (p.H562=) - AHI1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1694G>A r.(?) p.(Arg565His) Unknown - VUS g.135768231C>T g.135447093C>T AHI1(NM_001134831.1):c.1694G>A (p.R565H), AHI1(NM_001350503.1):c.1694G>A (p.R565H) - AHI1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1694G>A r.(?) p.(Arg565His) Unknown - likely benign g.135768231C>T - AHI1(NM_001134831.1):c.1694G>A (p.R565H), AHI1(NM_001350503.1):c.1694G>A (p.R565H) - AHI1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1725A>G r.(?) p.(Glu575=) Unknown - likely benign g.135768200T>C g.135447062T>C AHI1(NM_001134831.1):c.1725A>G (p.E575=) - AHI1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1780-14C>T r.(=) p.(=) Unknown - benign g.135763866G>A g.135442728G>A AHI1(NM_001134831.1):c.1780-14C>T - AHI1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1780-14C>T r.(=) p.(=) Unknown - benign g.135763866G>A g.135442728G>A AHI1(NM_001134831.1):c.1780-14C>T - AHI1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1780-14C>T r.(=) p.(=) Unknown - benign g.135763866G>A g.135442728G>A AHI1(NM_001134831.1):c.1780-14C>T - AHI1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1788T>C r.(?) p.(Arg596=) Unknown - likely benign g.135763844A>G g.135442706A>G AHI1(NM_001134831.1):c.1788T>C (p.R596=) - AHI1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1791C>T r.(?) p.(Ile597=) Unknown - benign g.135763841G>A g.135442703G>A AHI1(NM_001134831.1):c.1791C>T (p.I597=) - AHI1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1791C>T r.(?) p.(Ile597=) Unknown - benign g.135763841G>A g.135442703G>A AHI1(NM_001134831.1):c.1791C>T (p.I597=) - AHI1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1799A>G r.(?) p.(Lys600Arg) Unknown - VUS g.135763833T>C g.135442695T>C AHI1(NM_001134831.1):c.1799A>G (p.K600R) - AHI1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1829G>A r.(?) p.(Arg610Gln) Unknown - VUS g.135763803C>T g.135442665C>T AHI1(NM_001350503.1):c.1829G>A (p.R610Q) - AHI1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1983del r.(?) p.(Trp662Glyfs*24) Unknown - pathogenic g.135759567del g.135438429del - - AHI1_000012 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - JBTS - PubMed: Watson 2016, Journal: Watson 2016 - ? - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
-/. - c.2036+96G>A r.(=) p.(=) Unknown - benign g.135759417C>T g.135438279C>T AHI1(NM_017651.4):c.2036+96G>A - AHI1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2037-109G>A r.(=) p.(=) Unknown - benign g.135754503C>T g.135433365C>T AHI1(NM_017651.4):c.2037-109G>A - AHI1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 16 c.2057_2060del r.(?) p.(Asn686Ilefs*23) Parent #1 - likely pathogenic g.135754373_135754376del g.135433235_135433238del - - AHI1_000011 - - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
+?/. - c.2168G>A r.(?) p.(Arg723Gln) Unknown - likely pathogenic g.135754263C>T g.135433125C>T AHI1(NM_017651.4):c.2168G>A (p.R723Q) - AHI1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.2174G>A r.(?) p.(Trp725*) Parent #1 - pathogenic g.135754257C>T g.135433119C>T - - AHI1_000014 - ClinVar-RCV000144464.2 - rs587783013 Germline - - - 0 - DNA SEQ-NG - - retinal disease - Haer-Wigman 2016 - ? no - - - 0 - - 1 Lonneke Haer-Wigman
+/. - c.2174G>A r.(?) p.(Trp725Ter) Unknown - pathogenic g.135754257C>T g.135433119C>T AHI1(NM_001134831.1):c.2174G>A (p.W725*), AHI1(NM_017651.4):c.2174G>A (p.W725*) - AHI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2174G>A r.(?) p.(Trp725Ter) Unknown - pathogenic g.135754257C>T g.135433119C>T AHI1(NM_001134831.1):c.2174G>A (p.W725*), AHI1(NM_017651.4):c.2174G>A (p.W725*) - AHI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2174G>A r.(?) p.(Trp725Ter) Unknown - pathogenic g.135754257C>T g.135433119C>T AHI1(NM_001134831.1):c.2174G>A (p.W725*), AHI1(NM_017651.4):c.2174G>A (p.W725*) - AHI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2174G>A r.(?) p.(Trp725Ter) Unknown - pathogenic g.135754257C>T g.135433119C>T AHI1(NM_001134831.1):c.2174G>A (p.W725*), AHI1(NM_017651.4):c.2174G>A (p.W725*) - AHI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2174G>A r.(?) p.(Trp725*) Both (homozygous) - pathogenic (recessive) g.135754257C>T g.135433119C>T - - AHI1_000014 - - - - Germline ? - - 0 - DNA SEQ-NG blood - JBTS-3, LCA-10 - - - M no Korea Asian 24y 0 - - 1 Jinu Han
+/. 15 c.2212C>T r.(?) p.(Arg738*) Paternal (confirmed) - pathogenic g.135754219G>A g.135433081G>A - - AHI1_000081 - Sharon, submitted - - Germline - - - 0 - DNA SEQ - - retinal disease - Sharon, submitted - F no Israel Jewish - 0 - - 2 Dror Sharon
+/. - c.2212C>T r.(?) p.(Arg738*) Unknown ACMG pathogenic g.135754219G>A - - - AHI1_000081 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.2223T>C r.(?) p.(Asp741=) Unknown - benign g.135754208A>G g.135433070A>G AHI1(NM_001134831.1):c.2223T>C (p.D741=), AHI1(NM_017651.4):c.2223T>C (p.D741=) - AHI1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2223T>C r.(?) p.(Asp741=) Unknown - benign g.135754208A>G g.135433070A>G AHI1(NM_001134831.1):c.2223T>C (p.D741=), AHI1(NM_017651.4):c.2223T>C (p.D741=) - AHI1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 16 c.2248_2249insA r.(?) p.(Leu750Hisfs*4) Parent #1 - likely pathogenic g.135754182_135754183insT g.135433044_135433045insT - - AHI1_000005 - - - - Unknown - - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
+?/. 16 c.2258A>T r.(?) p.(Asp753Val) Parent #2 - likely pathogenic g.135754173T>A g.135433035T>A - - AHI1_000015 - - - - Germline - - - 0 - DNA SEQ-NG - - retinal disease - Haer-Wigman 2016 - ? no - - - 0 - - 1 Lonneke Haer-Wigman
+?/. - c.2258A>T r.(?) p.(Asp753Val) Unknown - likely pathogenic g.135754173T>A g.135433035T>A - - AHI1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2266G>T r.(?) p.(Gly756Cys) Unknown - VUS g.135754165C>A g.135433027C>A AHI1(NM_001134831.1):c.2266G>T (p.G756C) - AHI1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2266+9G>A r.(=) p.(=) Unknown - benign g.135754156C>T g.135433018C>T AHI1(NM_001134831.1):c.2266+9G>A - AHI1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2266+152A>G r.(=) p.(=) Unknown - benign g.135754013T>C g.135432875T>C AHI1(NM_017651.4):c.2266+152A>G - AHI1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2294C>T r.(?) p.(Thr765Ile) Unknown - likely benign g.135752425G>A g.135431287G>A AHI1(NM_001134831.1):c.2294C>T (p.T765I) - AHI1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2350G>T r.(?) p.(Val784Leu) Unknown - likely benign g.135752369C>A g.135431231C>A AHI1(NM_001134831.1):c.2350G>T (p.V784L) - AHI1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2373+18A>G r.(=) p.(=) Unknown - likely benign g.135752328T>C g.135431190T>C AHI1(NM_001350503.1):c.2373+18A>G - AHI1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2374-7A>G r.(=) p.(=) Unknown - benign g.135751145T>C g.135430007T>C AHI1(NM_001134831.1):c.2374-7A>G - AHI1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2441G>A r.(?) p.(Arg814His) Unknown - VUS g.135751071C>T g.135429933C>T AHI1(NM_001134830.1):c.2441G>A (p.(Arg814His)) - AHI1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 18 c.2488C>T r.(?) p.(Arg830Trp) Unknown - VUS g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 18 c.2488C>T r.(?) p.(Arg830Trp) Unknown - VUS g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 18 c.2488C>T r.(?) p.(Arg830Trp) Unknown - VUS g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 18 c.2488C>T r.(?) p.(Arg830Trp) Unknown - VUS g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - ADPKD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 18 c.2488C>T r.(?) p.(Arg830Trp) Unknown - VUS g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.2488C>T r.(?) p.(Arg830Trp) Unknown - benign g.135751024G>A g.135429886G>A AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W), AHI1(NM_017651.4):c.2488C>T (p.R830W) - AHI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2488C>T r.(?) p.(Arg830Trp) Unknown - VUS g.135751024G>A g.135429886G>A AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W), AHI1(NM_017651.4):c.2488C>T (p.R830W) - AHI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2488C>T r.(?) p.(Arg830Trp) Unknown - likely benign g.135751024G>A g.135429886G>A AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W), AHI1(NM_017651.4):c.2488C>T (p.R830W) - AHI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2488C>T r.(?) p.(Arg830Trp) Unknown - benign g.135751024G>A g.135429886G>A AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W), AHI1(NM_017651.4):c.2488C>T (p.R830W) - AHI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2488C>T r.(?) p.(Arg830Trp) Parent #1 - likely benign g.135751024G>A g.135429886G>A - - AHI1_000006 45 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs13312995 Germline - 45/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 45 Mohammed Faruq
-/. - c.2488C>T r.(?) p.(Arg830Trp) Unknown - benign g.135751024G>A g.135429886G>A AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W), AHI1(NM_017651.4):c.2488C>T (p.R830W) - AHI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.2495del r.(?) p.(Leu832*) Both (homozygous) - pathogenic g.135749896del g.135428758del - - AHI1_000013 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - JBTS - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
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