Full data view for gene DYSF

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
NOTE: the DYSF coding DNA reference sequence used has been updated. The "DNA_change" column gives descriptions based on NM_003494.3, meaning that exon 40b has been removed and variant descriptions 3' of c.4410 differ from those given previously (-63 nucleotides). The column "DNA_AllExon" gives descriptions based on a transcript incl. exons 5b and 40b. For details see the DYSF coding DNA reference sequence.
Information The variants shown are described using the NM_003494.3 transcript reference sequence.

116 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+?/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - likely pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - LGMD 25868377 NP14 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >45y - - - 1 Pieter Klap
+?/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - likely pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - LGMD 25868377 NP22 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >34y - - - 1 Pieter Klap
+?/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - likely pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - LGMD 25868377 NP24 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >40y - - - 1 Pieter Klap
+?/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - likely pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - LGMD 25868377 NP29 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >28y - - - 1 Pieter Klap
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Tagawa - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD 12767493-Pat5 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2003, OMIM:var0010, Izumi 2020 (submitted) - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - MMD - PubMed: Takahashi 2003, OMIM:var0010, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Kesari 2008 - rs28937581 Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Kesari 2008 - F - United States - >34y - - - 1 Akanchha Kesari
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Tagawa - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - MMD 12767493-Pat4 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Tagawa - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - MMD 12767493-Pat4 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Tagawa - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD 12767493-Pat1 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Tagawa - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD 12767493-Pat1 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T 3370G>T - DYSF_000132 - PubMed: Matsuda - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD 11532985-PatL1 PubMed: Matsuda - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T 3370G>T - DYSF_000132 - PubMed: Matsuda - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD 11532985-PatL1 PubMed: Matsuda - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2003, OMIM:var0010, Izumi 2020 (submitted) - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - MMD - PubMed: Takahashi 2003, OMIM:var0010, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2003, OMIM:var0010, Izumi 2020 (submitted) - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - MMD - PubMed: Takahashi 2003, OMIM:var0010, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2003, OMIM:var0010, Izumi 2020 (submitted) - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - MMD Dys36-1 PubMed: Takahashi 2003, OMIM:var0010, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Tagawa - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD 12767493-Pat6 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Cho 2006 - rs28937581 Germline - - AvaII- - - DNA SEQ - - MMD Pat1 PubMed: Cho 2006 - F;M - Korea, South (Republic) - - - - - 2 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nagashima, PubMed: Takahashi 2013, Izumi 2020 (submitted) - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD -/Dys114-1 PubMed: Nagashima, PubMed: Takahashi 2013, Izumi 2020 (submitted) - M - Japan Honshu Island - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Tagawa - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD 12767493-Pat2 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Tagawa - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD 12767493-Pat2 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Tagawa - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD 12767493-Pat3 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Tagawa - rs28937581 Germline - - AvaII- - - DNA SEQ, SSCA - - LGMD 12767493-Pat3 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T G3370T - DYSF_000132 - PubMed: Takahashi 2006, PubMed: Takahashi 2013, Izumi 2020 (submitted) - rs28937581 Germline - - - - - DNA SEQ - - LGMD Pat/Dys48-1 PubMed: Takahashi 2006, PubMed: Takahashi 2013, Izumi 2020 (submitted) - M - Japan - >53y - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T G3370T - DYSF_000132 - PubMed: Hattori 2007, Izumi 2020 (submitted) - rs28937581 Germline - - - - - DNA SEQ - - MMD -/Dys-139 PubMed: Hattori 2007, Izumi 2020 (submitted) 2-generation family, affected brother and sister M - Japan - - - - - 2 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T G3370T - DYSF_000132 - PubMed: Hattori 2007 - rs28937581 Germline - - - - - DNA SEQ - - MMD sister PubMed: Hattori 2007 sister F - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Okubo 2018 - - Germline - - - - - DNA SEQ, SEQ-NG-I - 61 disease gene panel LGMD - PubMed: Okubo 2018 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs28937581 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys92-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs28937581 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys211-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs28937581 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys218-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs28937581 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys71-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - - - Japan - - - - - 1 Rumiko Izumi
+?/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - likely pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat22 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
+?/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - likely pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat58 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat1 PubMed: Nishikawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat7 PubMed: Nishikawa 2016 2-generation family, 2 affected sibs (F, M), unaffected parents M - Japan - - - - - 2 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat8 PubMed: Nishikawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat10 PubMed: Nishikawa 2016 brother M - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 no variant 2nd chromosome PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 no variant 2nd chromosome PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 no variant 2nd chromosome PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 no variant 2nd chromosome PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys58-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys64-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys93-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys99-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys106-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys113-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys123-1 PubMed: Takahashi 2013, PubMed: Kuru 2004, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys133-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys170-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys13-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys55-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys120-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys124-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys127-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 69 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 72 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 76 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 77 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 79 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 85 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 88 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 91 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 97 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 101 Izumi 2020 (submitted) - - - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 105 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 106 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 107 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 108 Izumi 2020 (submitted) - - - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 110 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 111 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 125 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 132 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SSCA, SEQ - - MD Dys-105 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SSCA, SEQ - - MD Dys-121 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SSCA, SEQ - - MD Dys-161 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SSCA, SEQ - - MD Dys-173 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ FPE - MD Dys-184 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys-204 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-241 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-252 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-259 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-263 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-264 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-282 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-290 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-291 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-292 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Both (homozygous) - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-293 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys-298 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #1 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-301 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 28 c.2997G>T r.(?) p.(Trp999Cys) Parent #2 - pathogenic (recessive) g.71797430G>T g.71570300G>T - - DYSF_000132 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD 41 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.