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.

150 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-378G>T benign r.(?) p.(=) Unknown g.135818897C>A - - - AHI1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-54-6C>T likely benign r.(=) p.(=) Unknown g.135813435G>A - AHI1(NM_001134831.1):c.-54-6C>T - AHI1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-30C>A VUS r.(?) p.(=) Unknown g.135813405G>T - AHI1(NM_001134831.1):c.-30C>A - AHI1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.72T>C benign r.(?) p.(=) Unknown g.135811824A>G - AHI1(NM_001134831.1):c.72T>C (p.S24=) - AHI1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.96dup pathogenic r.(?) p.(Leu33Thrfs*9) Unknown g.135811805dup - AHI1(NM_001134831.1):c.96dupA (p.L33Tfs*9) - AHI1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108A>G likely benign r.(?) p.(=) Unknown g.135811788T>C - AHI1(NM_001350503.1):c.108A>G (p.K36=) - AHI1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189+12T>C likely benign r.(=) p.(=) Unknown g.135788707A>G - AHI1(NM_001134831.1):c.189+12T>C - AHI1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190C>A VUS r.(?) p.(Pro64Thr) Unknown g.135787511G>T - AHI1(NM_001134831.1):c.190C>A (p.P64T) - AHI1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.198T>C benign r.(?) p.(=) Unknown g.135787503A>G - AHI1(NM_001134831.1):c.198T>C (p.T66=) - AHI1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.517G>A benign r.(?) p.(Ala173Thr) Unknown g.135787184C>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 benign r.(?) p.(Ala173Thr) Unknown g.135787184C>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 VUS r.(?) p.(Asp185Tyr) Unknown g.135787148C>A - AHI1(NM_001134831.1):c.553G>T (p.D185Y) - AHI1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.708A>G likely benign r.(?) p.(=) Unknown g.135786993T>C - AHI1(NM_001134831.1):c.708A>G (p.=) - AHI1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.724C>T benign r.(?) p.(Pro242Ser) Unknown g.135786977G>A - AHI1(NM_001134831.1):c.724C>T (p.P242S) - AHI1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.724C>T benign r.(?) p.(Pro242Ser) Unknown g.135786977G>A - AHI1(NM_001134831.1):c.724C>T (p.P242S) - AHI1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.804A>C likely benign r.(?) p.(=) Unknown g.135784390T>G - AHI1(NM_001134831.1):c.804A>C (p.S268=) - AHI1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.868G>A VUS r.(?) p.(Glu290Lys) Unknown g.135784326C>T - AHI1(NM_001134831.1):c.868G>A (p.E290K) - AHI1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.901C>A benign r.(?) p.(Pro301Thr) Unknown g.135784293G>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 g.135784282_135784283dup g.135463144_135463145dup 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 g.135784282_135784283dup g.135463144_135463145dup 910_911dup - AHI1_000008 - - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
-/. - c.932-13dup benign r.(=) p.(=) Unknown g.135778872dup - 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 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 likely benign r.(?) p.(Arg329Leu) Unknown g.135778797C>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 g.135778794T>C g.135457656T>C - - AHI1_000004 - - - - Germline - - - 0 - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.989A>G VUS r.(?) p.(Asp330Gly) Unknown g.135778794T>C - AHI1(NM_001134830.1):c.989A>G (p.(Asp330Gly)) - AHI1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.990T>C likely benign r.(?) p.(=) Unknown g.135778793A>G - AHI1(NM_001134831.1):c.990T>C (p.D330=) - AHI1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.990T>C likely benign r.(?) p.(=) Unknown g.135778793A>G - AHI1(NM_001134831.1):c.990T>C (p.D330=) - AHI1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1051C>T pathogenic r.(?) p.(Arg351Ter) Both (homozygous) g.135778732G>A - - - AHI1_000118 - - - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 IMGAG
?/. - c.1093A>C VUS r.(?) p.(Met365Leu) Unknown g.135778690T>G - AHI1(NM_001350503.1):c.1093A>C (p.M365L) - AHI1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1145A>G VUS r.(?) p.(Asp382Gly) Unknown g.135778638T>C - AHI1(NM_001134831.1):c.1145A>G (p.D382G) - AHI1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1152-7dup benign r.(=) p.(=) Unknown g.135777077dup - 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 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 likely benign r.(?) p.(Arg435Gln) Unknown g.135776912C>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) 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) 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 benign r.(=) p.(=) Unknown g.135776818_135776855del - AHI1(NM_001134831.1):c.1344+17_1344+54del - AHI1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1405T>C likely benign r.(?) p.(Cys469Arg) Unknown g.135774514A>G - AHI1(NM_001134831.1):c.1405T>C (p.C469R) - AHI1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1546G>A VUS r.(?) p.(Glu516Lys) Unknown g.135769508C>T - AHI1(NM_001134830.1):c.1546G>A (p.(Glu516Lys)) - AHI1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1594G>A VUS r.(?) p.(Val532Ile) Unknown g.135769460C>T - AHI1(NM_001134831.1):c.1594G>A (p.V532I) - AHI1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1627-92T>A benign r.(=) p.(=) Unknown g.135768390A>T - AHI1(NM_017651.4):c.1627-92T>A - AHI1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1627-9C>G benign r.(=) p.(=) Unknown g.135768307G>C - AHI1(NM_001134831.1):c.1627-9C>G - AHI1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1643G>A likely benign r.(?) p.(Arg548His) Unknown g.135768282C>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 likely benign r.(?) p.(Arg548His) Unknown g.135768282C>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.1680A>G benign r.(?) p.(=) Unknown g.135768245T>C - AHI1(NM_001134831.1):c.1680A>G (p.P560=) - AHI1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1686T>C benign r.(?) p.(=) Unknown g.135768239A>G - AHI1(NM_001134831.1):c.1686T>C (p.H562=) - AHI1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1694G>A VUS r.(?) p.(Arg565His) Unknown g.135768231C>T - AHI1(NM_001134831.1):c.1694G>A (p.R565H) - AHI1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1725A>G likely benign r.(?) p.(=) Unknown g.135768200T>C - AHI1(NM_001134831.1):c.1725A>G (p.E575=) - AHI1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1780-14C>T benign r.(=) p.(=) Unknown g.135763866G>A - AHI1(NM_001134831.1):c.1780-14C>T - AHI1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1780-14C>T benign r.(=) p.(=) Unknown g.135763866G>A - AHI1(NM_001134831.1):c.1780-14C>T - AHI1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1780-14C>T benign r.(=) p.(=) Unknown g.135763866G>A - AHI1(NM_001134831.1):c.1780-14C>T - AHI1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1788T>C likely benign r.(?) p.(=) Unknown g.135763844A>G - AHI1(NM_001134831.1):c.1788T>C (p.R596=) - AHI1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1791C>T benign r.(?) p.(=) Unknown g.135763841G>A - AHI1(NM_001134831.1):c.1791C>T (p.I597=) - AHI1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1791C>T benign r.(?) p.(=) Unknown g.135763841G>A - AHI1(NM_001134831.1):c.1791C>T (p.I597=) - AHI1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1799A>G VUS r.(?) p.(Lys600Arg) Unknown g.135763833T>C - AHI1(NM_001134831.1):c.1799A>G (p.K600R) - AHI1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1829G>A VUS r.(?) p.(Arg610Gln) Unknown g.135763803C>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 g.135759566del g.135438428del - - 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 benign r.(=) p.(=) Unknown g.135759417C>T - AHI1(NM_017651.4):c.2036+96G>A - AHI1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2037-109G>A benign r.(=) p.(=) Unknown g.135754503C>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 g.135754371_135754374del g.135433233_135433236del - - AHI1_000011 - - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
+?/. - c.2168G>A likely pathogenic r.(?) p.(Arg723Gln) Unknown g.135754263C>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 g.135754257C>T g.135433119C>T - - AHI1_000014 - ClinVar-RCV000144464.2 - rs587783013 Germline - - - 0 - DNA SEQ-NG - - RP - Haer-Wigman 2016 - ? no - - - 0 - - 1 Lonneke Haer-Wigman
+/. - c.2174G>A pathogenic r.(?) p.(Trp725*) Unknown g.135754257C>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 pathogenic r.(?) p.(Trp725*) Unknown g.135754257C>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 pathogenic r.(?) p.(Trp725*) Unknown g.135754257C>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 pathogenic r.(?) p.(Trp725*) Unknown g.135754257C>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 pathogenic (recessive) r.(?) p.(Trp725*) Both (homozygous) g.135754257C>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) g.135754219C>T - - - AHI1_000081 - Sharon, submitted - - Germline - - - 0 - DNA SEQ - - RP - Sharon, submitted - F no Israel Jewish - 0 - - 2 Dror Sharon
-/. - c.2223T>C benign r.(?) p.(=) Unknown g.135754208A>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 benign r.(?) p.(=) Unknown g.135754208A>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 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 g.135754173T>A g.135433035T>A - - AHI1_000015 - - - - Germline - - - 0 - DNA SEQ-NG - - RP - Haer-Wigman 2016 - ? no - - - 0 - - 1 Lonneke Haer-Wigman
+?/. - c.2258A>T likely pathogenic r.(?) p.(Asp753Val) Unknown g.135754173T>A - - - AHI1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2266G>T VUS r.(?) p.(Gly756Cys) Unknown g.135754165C>A - AHI1(NM_001134831.1):c.2266G>T (p.G756C) - AHI1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2266+9G>A benign r.(=) p.(=) Unknown g.135754156C>T - AHI1(NM_001134831.1):c.2266+9G>A - AHI1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2266+152A>G benign r.(=) p.(=) Unknown g.135754013T>C - AHI1(NM_017651.4):c.2266+152A>G - AHI1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2294C>T likely benign r.(?) p.(Thr765Ile) Unknown g.135752425G>A - AHI1(NM_001134831.1):c.2294C>T (p.T765I) - AHI1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2350G>T likely benign r.(?) p.(Val784Leu) Unknown g.135752369C>A - AHI1(NM_001134831.1):c.2350G>T (p.V784L) - AHI1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2373+18A>G likely benign r.(=) p.(=) Unknown g.135752328T>C - AHI1(NM_001350503.1):c.2373+18A>G - AHI1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2374-7A>G benign r.(=) p.(=) Unknown g.135751145T>C - AHI1(NM_001134831.1):c.2374-7A>G - AHI1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2441G>A VUS r.(?) p.(Arg814His) Unknown g.135751071C>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 g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 18 c.2488C>T - r.(?) p.(Arg830Trp) Unknown g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 18 c.2488C>T - r.(?) p.(Arg830Trp) Unknown g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 18 c.2488C>T - r.(?) p.(Arg830Trp) Unknown g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 18 c.2488C>T - r.(?) p.(Arg830Trp) Unknown g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.2488C>T benign r.(?) p.(Arg830Trp) Unknown g.135751024G>A - AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W) - AHI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2488C>T VUS r.(?) p.(Arg830Trp) Unknown g.135751024G>A - AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W) - AHI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2488C>T likely benign r.(?) p.(Arg830Trp) Unknown g.135751024G>A - AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W) - AHI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2488C>T benign r.(?) p.(Arg830Trp) Unknown g.135751024G>A - AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W) - AHI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.2495del - r.(?) p.(Leu832*) Both (homozygous) g.135749895del g.135428757del - - 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
-?/. - c.2504G>C likely benign r.(?) p.(Arg835Thr) Unknown g.135749886C>G - AHI1(NM_001134830.1):c.2504G>C (p.(Arg835Thr)) - AHI1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2505G>A benign r.(?) p.(=) Unknown g.135749885C>T - AHI1(NM_001134831.1):c.2505G>A (p.R835=) - AHI1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2505G>A likely benign r.(?) p.(=) Unknown g.135749885C>T - AHI1(NM_001134831.1):c.2505G>A (p.R835=) - AHI1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2624-6A>G benign r.(=) p.(=) Unknown g.135748451T>C - AHI1(NM_001134831.1):c.2624-6A>G, AHI1(NM_017651.4):c.2624-6A>G - AHI1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2624-6A>G likely benign r.(=) p.(=) Unknown g.135748451T>C - AHI1(NM_001134831.1):c.2624-6A>G, AHI1(NM_017651.4):c.2624-6A>G - AHI1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2624-6A>G benign r.(=) p.(=) Unknown g.135748451T>C - AHI1(NM_001134831.1):c.2624-6A>G, AHI1(NM_017651.4):c.2624-6A>G - AHI1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2660A>G VUS r.(?) p.(Lys887Arg) Unknown g.135748409T>C - AHI1(NM_001134830.1):c.2660A>G (p.(Lys887Arg)), AHI1(NM_001134831.1):c.2660A>G (p.K887R) - AHI1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2660A>G VUS r.(?) p.(Lys887Arg) Unknown g.135748409T>C - AHI1(NM_001134830.1):c.2660A>G (p.(Lys887Arg)), AHI1(NM_001134831.1):c.2660A>G (p.K887R) - AHI1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2660A>G VUS r.(?) p.(Lys887Arg) Unknown g.135748409T>C - AHI1(NM_001134830.1):c.2660A>G (p.(Lys887Arg)), AHI1(NM_001134831.1):c.2660A>G (p.K887R) - AHI1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2794C>T likely benign r.(?) p.(Arg932Cys) Unknown g.135732653G>A - AHI1(NM_001134831.1):c.2794C>T (p.R932C) - AHI1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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