All variants in the TMC1 gene


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_138691.2 transcript reference sequence.

402 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
-/. - c.-468G>A r.(?) p.(=) - - benign g.75136789G>A g.72521873G>A - - TMC1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 1 c.-468G>A r.(?) p.(=) - - pathogenic g.75136789G>A g.72521873G>A - - TMC1_000055 homozygous PubMed: Davoudi-dehaghani 2013 - rs7022441 Germline - - - 0 - Anne-Françoise Roux
-/- 1 c.-468G>A r.(?) p.(=) - - benign g.75136789G>A g.72521873G>A - - TMC1_000055 homozygous PubMed: Davoudi-dehaghani 2013 - rs7022441 Germline - - - 0 - Anne-Françoise Roux
-/- 2i c.-305-67G>A r.(?) p.(=) - ACMG VUS g.75231217G>A g.72616301G>A - - TMC1_000057 homozygous PubMed: Davoudi-dehaghani 2013 - rs10217204 Germline - - - 0 - Anne-Françoise Roux
-/- 2i c.-305-67G>A r.(?) p.(=) - ACMG VUS g.75231217G>A g.72616301G>A - - TMC1_000057 homozygous PubMed: Davoudi-dehaghani 2013 - rs10217204 Germline - - - 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(?) - - VUS g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003 homozygous; pathogenicity unclear, segregates with the disease PubMed: Hilgert 2008 - - Germline - 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(?) - - VUS g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003 homozygous; pathogenicity unclear, segregates with the disease PubMed: Hilgert 2008 - - Germline - 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(?) - - VUS g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003 homozygous; pathogenicity unclear, segregates with the disease PubMed: Hilgert 2008 - - Germline - 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(?) - - VUS g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003 homozygous; pathogenicity unclear, segregates with the disease PubMed: Hilgert 2008 - - Germline - 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(?) - - VUS g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003 homozygous; pathogenicity unclear, segregates with the disease PubMed: Hilgert 2008 - - Germline - 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(?) - - VUS g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003 homozygous; pathogenicity unclear, segregates with the disease PubMed: Hilgert 2008 - - Germline - 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(?) - - VUS g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003 homozygous; pathogenicity unclear, segregates with the disease PubMed: Hilgert 2008 - - Germline - 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(?) - - VUS g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003 homozygous; pathogenicity unclear, segregates with the disease PubMed: Hilgert 2008 - - Germline - 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(?) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003 homozygous; pathogenicity unclear, segregates with the disease PubMed: Hilgert 2008 - - Germline - 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(?) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003 homozygous; pathogenicity unclear, segregates with the disease PubMed: Hilgert 2008 - - Germline - 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI 0 - Anne-Françoise Roux
?/? 3 c.-258A>C r.(?) p.(=) - - VUS g.75231331A>C g.72616415A>C - - TMC1_000058 homozygous; mutation PubMed: Davoudi-dehaghani 2013 - - Germline - 0/300 controls - 0 - Anne-Françoise Roux
-/- 3 c.-258A>C r.(?) p.(=) - - benign g.75231331A>C g.72616415A>C - - TMC1_000058 homozygous; mutation PubMed: Davoudi-dehaghani 2013 - - Germline - 0/300 controls - 0 - Anne-Françoise Roux
-/- 1 c.-258A>C r.(=) p.(=) - ACMG benign g.75231331A>C g.72616415A>C - - TMC1_000003 Marker associated to the c.627C>T splicing alteration Vaché et al., submitted - rs937270834 Germline - - - 0 - David Baux
-/. - c.-219A>G r.(?) p.(=) - - benign g.75231370A>G g.72616454A>G - - TMC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 3 c.-219A>G r.(?) p.(=) - - benign g.75231370A>G g.72616454A>G - - TMC1_000059 homozygous PubMed: Davoudi-dehaghani 2013 - rs7026304 Germline - - - 0 - Anne-Françoise Roux
+/+ 3i_5i c.(-196+1_-195-1)_(16+1_17-1)del r.(?) p.(?) - - pathogenic g.(75231394_75242836)_(75263581_75303624)del - - - TMC1_000009 homozygous; Pathogenic PubMed: Kurima 2002 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 3i_5i c.(-196+1_-195-1)_(16+1_17-1)del r.(?) p.(?) - - pathogenic g.(75231394_75242836)_(75263581_75303624)del - - - TMC1_000009 homozygous; Pathogenic PubMed: Kurima 2002 - - Germline - - - 0 - Anne-Françoise Roux
-/- 3i c.-196+153_196+154ins(314) r.(?) p.(=) - - benign g.75231546_75309744insN[314] - - - TMC1_000060 - PubMed: Davoudi-dehaghani 2013 - - Germline no - - 0 - Anne-Françoise Roux
+/. 5 c.15dup r.(?) p.(Val6Serfs*13) - - pathogenic g.75263579dup g.72648663dup 10dupA - TMC1_000076 - - - - Germline yes - - 0 - Zippi Brownstein
+/+ 5i c.16+1G>T r.(?) p.(?) Cytoplasmic 3 (462-634) ACMG VUS g.75263581G>T g.72648665G>T IVS5+1G>T - TMC1_000016 homozygous; Pathogenic PubMed: Kitajiri 2007 - - Germline - 0/338 controls -BslI 0 - Anne-Françoise Roux
+/+ 5i c.16+1G>T r.(?) p.(?) Cytoplasmic 3 (462-634) ACMG VUS g.75263581G>T g.72648665G>T IVS5+1G>T - TMC1_000016 homozygous; Pathogenic PubMed: Kitajiri 2007 - - Germline - 0/338 controls -BslI 0 - Anne-Françoise Roux
-/- 5i c.16+1479C>T r.(=) p.(=) - - benign g.75265059C>T g.72650143C>T - - TMC1_000035 homozygous; Neutral PubMed: Ben Saïd 2010 - rs12553768 Germline - - +HphI 0 - Anne-Françoise Roux
-/- 5i c.16+1479C>T r.(=) p.(=) - - benign g.75265059C>T g.72650143C>T - - TMC1_000035 homozygous; Neutral PubMed: Ben Saïd 2010 - rs12553768 Germline - - +HphI 0 - Anne-Françoise Roux
-/- 5i c.17-17308A>T r.(=) p.(=) - - benign g.75286317A>T g.72671401A>T - - TMC1_000034 ; Neutral PubMed: Ben Saïd 2010 - rs1417619 Germline - - none 0 - Anne-Françoise Roux
-/- 5i c.17-17308A>T r.(=) p.(=) - - benign g.75286317A>T g.72671401A>T - - TMC1_000034 ; Neutral PubMed: Ben Saïd 2010 - rs1417619 Germline - - none 0 - Anne-Françoise Roux
-/. - c.45C>T r.(?) p.(Asp15=) - - benign g.75303653C>T g.72688737C>T - - TMC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178) - benign g.75303653C>T g.72688737C>T - - TMC1_000015 homozygous; reported in linkage disequilibrium with c.100C>T PubMed: Kitajiri 2007 - rs2589615 Germline - 68/154 controls -BbsI 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178) - benign g.75303653C>T g.72688737C>T - - TMC1_000015 homozygous; reported in linkage disequilibrium with c.100C>T PubMed: Kitajiri 2007 - rs2589615 Germline - 68/154 controls -BbsI 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178) - benign g.75303653C>T g.72688737C>T - - TMC1_000015 homozygous; reported in linkage disequilibrium with c.100C>T PubMed: Kitajiri 2007 - rs2589615 Germline - 68/154 controls -BbsI 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178) - benign g.75303653C>T g.72688737C>T - - TMC1_000015 homozygous; reported in linkage disequilibrium with c.100C>T PubMed: Kitajiri 2007 - rs2589615 Germline - 68/154 controls -BbsI 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178) - benign g.75303653C>T g.72688737C>T - - TMC1_000015 homozygous; reported in linkage disequilibrium with c.100C>T PubMed: Kitajiri 2007 - rs2589615 Germline - 68/154 controls -BbsI 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178) - benign g.75303653C>T g.72688737C>T - - TMC1_000015 homozygous; reported in linkage disequilibrium with c.100C>T PubMed: Kitajiri 2007 - rs2589615 Germline - 68/154 controls -BbsI 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178) - benign g.75303653C>T g.72688737C>T - - TMC1_000015 homozygous; reported in linkage disequilibrium with c.100C>T PubMed: Kitajiri 2007 - rs2589615 Germline - 68/154 controls -BbsI 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178) - benign g.75303653C>T g.72688737C>T - - TMC1_000015 homozygous; reported in linkage disequilibrium with c.100C>T PubMed: Kitajiri 2007 - rs2589615 Germline - 68/154 controls -BbsI 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) - - pathogenic g.75303653C>T g.72688737C>T - - TMC1_000015 homozygous; reported in linkage disequilibrium with c.100C>T PubMed: Kitajiri 2007 - rs2589615 Germline - 68/154 controls -BbsI 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) - - pathogenic g.75303653C>T g.72688737C>T - - TMC1_000015 homozygous; reported in linkage disequilibrium with c.100C>T PubMed: Kitajiri 2007 - rs2589615 Germline - 68/154 controls -BbsI 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) - - benign g.75303653C>T g.72688737C>T - - TMC1_000061 homozygous PubMed: Davoudi-dehaghani 2013 - rs2589615 Germline - - - 0 - Anne-Françoise Roux
-/- 6 c.45C>T r.(?) p.(=) - - benign g.75303653C>T g.72688737C>T - - TMC1_000061 homozygous PubMed: Davoudi-dehaghani 2013 - rs2589615 Germline - - - 0 - Anne-Françoise Roux
?/? 6i c.64+2T>A r.(?) p.(?) - - VUS g.75303674T>A g.72688758T>A IVS6+2T>A - TMC1_000033 homozygous; Pathogenic PubMed: Sirmaci 2009 - - Germline - 0/192 controls +Hpy188III 0 - Anne-Françoise Roux
?/? 6i c.64+2T>A r.(?) p.(?) - - VUS g.75303674T>A g.72688758T>A IVS6+2T>A - TMC1_000033 homozygous; Pathogenic PubMed: Sirmaci 2009 - - Germline - - +Hpy188III 0 - Anne-Françoise Roux
?/? 6i c.64+2T>A r.(?) p.(?) - - benign g.75303674T>A g.72688758T>A IVS6+2T>A - TMC1_000033 homozygous; Pathogenic PubMed: Sirmaci 2009 - - Germline - 0/192 controls +Hpy188III 0 - Anne-Françoise Roux
?/? 6i c.64+2T>A r.(?) p.(?) - - benign g.75303674T>A g.72688758T>A IVS6+2T>A - TMC1_000033 homozygous; Pathogenic PubMed: Sirmaci 2009 - - Germline - - +Hpy188III 0 - Anne-Françoise Roux
+/. - c.64+2T>A r.spl? p.? - - pathogenic g.75303674T>A g.72688758T>A - - TMC1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/- 6i c.65-316G>A r.(=) p.(=) - - benign g.75309143G>A g.72694227G>A - - TMC1_000036 homozygous; Neutral PubMed: Ben Saïd 2010 - rs1663742 Germline - - +BspHI;+Hpy188III 0 - Anne-Françoise Roux
-/- 6i c.65-316G>A r.(=) p.(=) - - benign g.75309143G>A g.72694227G>A - - TMC1_000036 homozygous; Neutral PubMed: Ben Saïd 2010 - rs1663742 Germline - - +BspHI;+Hpy188III 0 - Anne-Françoise Roux
-/- 6i c.65-316G>A r.(=) p.(=) - - benign g.75309143G>A g.72694227G>A - - TMC1_000036 homozygous; Neutral PubMed: Ben Saïd 2010 - rs1663742 Germline - - +BspHI;+Hpy188III 0 - Anne-Françoise Roux
-/- 6i c.65-316G>A r.(=) p.(=) - - benign g.75309143G>A g.72694227G>A - - TMC1_000036 homozygous; Neutral PubMed: Ben Saïd 2010 - rs1663742 Germline - - +BspHI;+Hpy188III 0 - Anne-Françoise Roux
-/- 6i c.65-316G>A r.(=) p.(=) - - benign g.75309143G>A g.72694227G>A - - TMC1_000036 homozygous; Neutral PubMed: Ben Saïd 2010 - rs1663742 Germline - - +BspHI;+Hpy188III 0 - Anne-Françoise Roux
-/- 6i c.65-316G>A r.(=) p.(=) - - benign g.75309143G>A g.72694227G>A - - TMC1_000036 homozygous; Neutral PubMed: Ben Saïd 2010 - rs1663742 Germline - - +BspHI;+Hpy188III 0 - Anne-Françoise Roux
?/. - c.65-1G>C r.spl? p.? - - VUS g.75309458G>C g.72694542G>C - - TMC1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.100C>T r.(?) p.(Arg34Ter) - - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI 0 - Anne-Françoise Roux
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