Full data view for gene FTCD

Information The variants shown are described using the NM_006657.2 transcript reference sequence.

116 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.77C>A r.(?) p.(Ala26Asp) Unknown - VUS g.47574224G>T g.46154310G>T FTCD(NM_001320412.1):c.77C>A (p.A26D) - FTCD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.95G>C r.(?) p.(Gly32Ala) Unknown - VUS g.47574206C>G g.46154292C>G FTCD(NM_006657.2):c.95G>C (p.G32A), FTCD(NM_206965.1):c.95G>C (p.(Gly32Ala)) - FTCD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.95G>C r.(?) p.(Gly32Ala) Unknown - VUS g.47574206C>G - FTCD(NM_006657.2):c.95G>C (p.G32A), FTCD(NM_206965.1):c.95G>C (p.(Gly32Ala)) - FTCD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149C>T r.(?) p.(Thr50Ile) Unknown - VUS g.47574152G>A - FTCD(NM_206965.2):c.149C>T (p.(Thr50Ile)) - FTCD_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.153C>A r.(?) p.(Phe51Leu) Unknown - VUS g.47574148G>T g.46154234G>T FTCD(NM_006657.2):c.153C>A (p.(Phe51Leu)) - FTCD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.238+1G>T r.spl? p.? Unknown - likely pathogenic g.47574062C>A - FTCD(NM_001320412.2):c.238+1G>T - FTCD_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.273C>A r.(?) p.(Cys91Ter) Unknown - VUS g.47572915G>T - FTCD(NM_001320412.1):c.273C>A (p.C91*) - FTCD_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.286G>A r.(?) p.(Val96Met) Unknown - VUS g.47572902C>T - FTCD(NM_001320412.1):c.286G>A (p.V96M) - FTCD_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319T>C r.(?) p.(Cys107Arg) Unknown - VUS g.47572869A>G - FTCD(NM_206965.2):c.319T>C (p.(Cys107Arg)) - FTCD_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.367+6C>T r.(=) p.(=) Unknown - likely benign g.47572815G>A - FTCD(NM_001320412.1):c.367+6C>T - FTCD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393G>A r.(?) p.(Arg131=) Unknown - likely benign g.47571869C>T - FTCD(NM_001320412.1):c.393G>A (p.R131=) - FTCD_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429C>T r.(?) p.(Ala143=) Unknown - likely benign g.47571833G>A g.46151919G>A FTCD(NM_001320412.1):c.429C>T (p.A143=) - FTCD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468C>T r.(?) p.(Ala156=) Unknown - likely benign g.47571640G>A g.46151726G>A FTCD(NM_001320412.1):c.468C>T (p.A156=), FTCD(NM_206965.2):c.468C>T (p.(Ala156=)) - FTCD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.468C>T r.(?) p.(Ala156=) Unknown - VUS g.47571640G>A - FTCD(NM_001320412.1):c.468C>T (p.A156=), FTCD(NM_206965.2):c.468C>T (p.(Ala156=)) - FTCD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.530G>A r.(?) p.(Gly177Glu) Unknown - likely pathogenic g.47571578C>T - - - FTCD_000037 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 Gunnar Schmidt
?/. - c.598G>A r.(?) p.(Ala200Thr) Unknown - VUS g.47571510C>T - FTCD(NM_001320412.1):c.598G>A (p.A200T) - FTCD_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.611G>A r.(?) p.(Arg204Gln) Unknown - likely pathogenic g.47571497C>T - - - FTCD_000036 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 Gunnar Schmidt
?/. - c.636+4A>G r.spl? p.? Unknown - VUS g.47571468T>C g.46151554T>C FTCD(NM_001320412.1):c.636+4A>G - FTCD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.643C>T r.(?) p.(Arg215Cys) Unknown - likely benign g.47570433G>A g.46150519G>A FTCD(NM_001320412.1):c.643C>T (p.R215C), FTCD(NM_206965.2):c.643C>T (p.(Arg215Cys)) - FTCD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.643C>T r.(?) p.(Arg215Cys) Unknown - likely benign g.47570433G>A - FTCD(NM_001320412.1):c.643C>T (p.R215C), FTCD(NM_206965.2):c.643C>T (p.(Arg215Cys)) - FTCD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.763C>T r.(?) p.(Arg255*) Unknown - pathogenic g.47570313G>A - FTCD(NM_206965.2):c.763C>T (p.(Arg255*)) - FTCD_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.896G>A r.(?) p.(Arg299Gln) Unknown - VUS g.47570043C>T - FTCD(NM_206965.2):c.896G>A (p.(Arg299Gln)) - FTCD_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.969-10C>T r.(=) p.(=) Unknown - likely benign g.47565871G>A - FTCD(NM_206965.2):c.969-10C>T - FTCD_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.990dup r.(?) p.(Pro331Alafs*2) Unknown - likely pathogenic g.47565842dup g.46145928dup - - FTCD_000005 - - - - De novo - - - - - DNA SEQ-NG - - ID Jansen et al. Patient 8 Jansen, submitted - M - - - - - - - 1 Lisenka Vissers
?/. - c.990dup r.(?) p.(Pro331AlafsTer2) Unknown - VUS g.47565842dup g.46145928dup FTCD(NM_001320412.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.3):c.990dupG (p.P331Afs*2) - FTCD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.990dup r.(?) p.(Pro331AlafsTer2) Unknown - VUS g.47565842dup g.46145928dup FTCD(NM_001320412.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.3):c.990dupG (p.P331Afs*2) - FTCD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.990dup r.(?) p.(Pro331AlafsTer2) Unknown - VUS g.47565842dup g.46145928dup FTCD(NM_001320412.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.3):c.990dupG (p.P331Afs*2) - FTCD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.990dup r.(?) p.(Pro331AlafsTer2) Unknown - likely pathogenic g.47565842dup - FTCD(NM_001320412.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.3):c.990dupG (p.P331Afs*2) - FTCD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.999A>C r.(?) p.(Arg333=) Unknown - likely benign g.47565831T>G - FTCD(NM_001320412.1):c.999A>C (p.R333=) - FTCD_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1067dup r.(?) p.(Gly357Argfs*75) Unknown - VUS g.47565767dup - FTCD(NM_001320412.1):c.1067dupG (p.G357Rfs*75) - FTCD_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1099-5C>T r.spl? p.? Unknown - likely benign g.47565497G>A - FTCD(NM_206965.2):c.1099-5C>T - FTCD_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1122G>A r.(?) p.(Val374=) Unknown - VUS g.47565469C>T - FTCD(NM_001320412.1):c.1122G>A (p.V374=) - FTCD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1206G>A r.(?) p.(Ser402=) Unknown - likely benign g.47565385C>T g.46145471C>T FTCD(NM_001320412.1):c.1206G>A (p.S402=) - FTCD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1220C>A r.(?) p.(Thr407Lys) Unknown - likely benign g.47565371G>T g.46145457G>T FTCD(NM_001320412.1):c.1220C>A (p.T407K) - FTCD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1358C>T r.(?) p.(Thr453Met) Parent #1 - VUS g.47558507G>A g.46138593G>A - - FTCD_000025 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200283734 Germline - 5/2736 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+/. - c.1366dup r.(?) p.(Glu456Glyfs*56) Unknown - pathogenic g.47558500dup - FTCD(NM_206965.2):c.1366dup (p.(Glu456GlyfsTer56)) - FTCD_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1392C>G r.(?) p.(Ala464=) Unknown - benign g.47558473G>C g.46138559G>C FTCD(NM_006657.3):c.1392C>G (p.A464=) - FTCD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1497C>T r.(?) p.(Leu499=) Unknown - likely benign g.47557195G>A - FTCD(NM_001320412.1):c.1497C>T (p.L499=) - FTCD_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1550G>A r.(?) p.(Arg517His) Unknown - likely benign g.47556977C>T g.46137063C>T FTCD(NM_006657.2):c.1550G>A (p.R517H) - FTCD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2+4C>T r.spl? p.? Unknown - VUS g.47556895G>A - FTCD(NM_001320412.1):c.1612C>T (p.R538W) - FTCD_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2+106G>A r.(=) p.(=) Both (homozygous) - VUS g.47556793C>T g.46136879C>T - - FTCD_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*2+106G>A r.(=) p.(=) Unknown - VUS g.47556793C>T g.46136879C>T - - FTCD_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.*3787G>A r.(=) p.(=) Unknown - benign g.47552624C>T g.46132710C>T - - COL6A2_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3889A>C r.(=) p.(=) Unknown - likely benign g.47552522T>G g.46132608T>G COL6A2(NM_001849.4):c.*56T>G - COL6A2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3962T>G r.(=) p.(=) Unknown - likely benign g.47552449A>C - COL6A2(NM_001849.3):c.3043A>C (p.(Ile1015Leu)) - COL6A2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3976A>C r.(=) p.(=) Unknown - VUS g.47552435T>G - COL6A2(NM_001849.3):c.3029T>G (p.(Phe1010Cys)) - COL6A2_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3982G>C r.(=) p.(=) Unknown - VUS g.47552429C>G - COL6A2(NM_001849.4):c.3023C>G (p.(Pro1008Arg)) - FTCD_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3988G>A r.(=) p.(=) Unknown - VUS g.47552423C>T g.46132509C>T COL6A2(NM_001849.3):c.3017C>T (p.(Ala1006Val)) - COL6A2_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4002G>T r.(=) p.(=) Unknown - VUS g.47552409C>A g.46132495C>A - - COL6A2_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4005C>T r.(=) p.(=) Unknown - likely benign g.47552406G>A g.46132492G>A COL6A2(NM_001849.3):c.3000G>A (p.(=)) - COL6A2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4020G>A r.(=) p.(=) Unknown - likely benign g.47552391C>T g.46132477C>T COL6A2(NM_001849.3):c.2985C>T (p.A995=) - FTCD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4022C>T r.(=) p.(=) Unknown - likely benign g.47552389G>A g.46132475G>A COL6A2(NM_001849.3):c.2983G>A (p.(Ala995Thr)) - COL6A2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4023G>A r.(=) p.(=) Unknown - benign g.47552388C>T g.46132474C>T COL6A2(NM_001849.3):c.2982C>T (p.A994=), COL6A2(NM_001849.4):c.2982C>T (p.A994=) - COL6A2_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4023G>A r.(=) p.(=) Unknown - likely benign g.47552388C>T - COL6A2(NM_001849.3):c.2982C>T (p.A994=), COL6A2(NM_001849.4):c.2982C>T (p.A994=) - COL6A2_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4025C>T r.(=) p.(=) Unknown - likely benign g.47552386G>A - COL6A2(NM_001849.3):c.2980G>A (p.(Ala994Thr)) - COL6A2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4026G>A r.(=) p.(=) Unknown - benign g.47552385C>T g.46132471C>T COL6A2(NM_001849.4):c.2979C>T (p.R993=) - COL6A2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4026G>A r.(=) p.(=) Unknown - benign g.47552385C>T g.46132471C>T COL6A2(NM_001849.4):c.2979C>T (p.R993=) - COL6A2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4028G>C r.(=) p.(=) Unknown - VUS g.47552383C>G - COL6A2(NM_001849.3):c.2977C>G (p.(Arg993Gly)) - FTCD_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4061T>C r.(=) p.(=) Unknown - likely benign g.47552350A>G - COL6A2(NM_001849.3):c.2944A>G (p.(Met982Val)) - FTCD_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4067C>T r.(=) p.(=) Unknown - VUS g.47552344G>A - COL6A2(NM_001849.4):c.2938G>A (p.V980M) - FTCD_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4070C>T r.(=) p.(=) Unknown - VUS g.47552341G>A - COL6A2(NM_001849.3):c.2935G>A (p.D979N), COL6A2(NM_001849.4):c.2935G>A (p.(Asp979Asn)) - COL6A2_000415 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4070C>T r.(=) p.(=) Unknown - VUS g.47552341G>A - COL6A2(NM_001849.3):c.2935G>A (p.D979N), COL6A2(NM_001849.4):c.2935G>A (p.(Asp979Asn)) - COL6A2_000415 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4119G>A r.(=) p.(=) Unknown - likely benign g.47552292C>T - COL6A2(NM_001849.3):c.2886C>T (p.H962=) - COL6A2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4134C>T r.(=) p.(=) Unknown - likely benign g.47552277G>A - COL6A2(NM_001849.3):c.2871G>A (p.(Leu957=)) - FTCD_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4142C>T r.(=) p.(=) Unknown - VUS g.47552269G>A - COL6A2(NM_001849.3):c.2863G>A (p.(Asp955Asn)) - FTCD_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4149C>T r.(=) p.(=) Unknown - benign g.47552262G>A g.46132348G>A COL6A2(NM_001849.3):c.2856G>A (p.(Thr952=)), COL6A2(NM_001849.4):c.2856G>A (p.T952=) - COL6A2_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4149C>T r.(=) p.(=) Unknown - likely benign g.47552262G>A g.46132348G>A COL6A2(NM_001849.3):c.2856G>A (p.(Thr952=)), COL6A2(NM_001849.4):c.2856G>A (p.T952=) - COL6A2_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4150G>A r.(=) p.(=) Unknown - VUS g.47552261C>T g.46132347C>T COL6A2(NM_001849.3):c.2855C>T (p.(Thr952Met)) - FTCD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4162G>A r.(=) p.(=) Unknown - VUS g.47552249C>T - COL6A2(NM_001849.3):c.2843C>T (p.(Thr948Met)) - FTCD_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4202C>T r.(=) p.(=) Unknown - benign g.47552209G>A g.46132295G>A COL6A2(NM_001849.3):c.2803G>A (p.G935R), COL6A2(NM_001849.4):c.2803G>A (p.G935R) - COL6A2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4202C>T r.(=) p.(=) Unknown - benign g.47552209G>A g.46132295G>A COL6A2(NM_001849.3):c.2803G>A (p.G935R), COL6A2(NM_001849.4):c.2803G>A (p.G935R) - COL6A2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4202C>T r.(=) p.(=) Unknown - benign g.47552209G>A g.46132295G>A COL6A2(NM_001849.3):c.2803G>A (p.G935R), COL6A2(NM_001849.4):c.2803G>A (p.G935R) - COL6A2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4202C>T r.(=) p.(=) Unknown - benign g.47552209G>A g.46132295G>A COL6A2(NM_001849.3):c.2803G>A (p.G935R), COL6A2(NM_001849.4):c.2803G>A (p.G935R) - COL6A2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4210G>A r.(=) p.(=) Unknown - likely benign g.47552201C>T g.46132287C>T COL6A2(NM_001849.3):c.2795C>T (p.P932L, p.(Pro932Leu)), COL6A2(NM_001849.4):c.2795C>T (p.P932L) - COL6A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4210G>A r.(=) p.(=) Unknown - likely benign g.47552201C>T g.46132287C>T COL6A2(NM_001849.3):c.2795C>T (p.P932L, p.(Pro932Leu)), COL6A2(NM_001849.4):c.2795C>T (p.P932L) - COL6A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4210G>A r.(=) p.(=) Unknown - VUS g.47552201C>T - COL6A2(NM_001849.3):c.2795C>T (p.P932L, p.(Pro932Leu)), COL6A2(NM_001849.4):c.2795C>T (p.P932L) - COL6A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4210G>A r.(=) p.(=) Unknown - likely benign g.47552201C>T - COL6A2(NM_001849.3):c.2795C>T (p.P932L, p.(Pro932Leu)), COL6A2(NM_001849.4):c.2795C>T (p.P932L) - COL6A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4217G>A r.(=) p.(=) Unknown - VUS g.47552194C>T - COL6A2(NM_001849.4):c.2788C>T (p.(Arg930Cys)) - FTCD_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4220C>T r.(=) p.(=) Unknown - VUS g.47552191G>A - COL6A2(NM_001849.4):c.2785G>A (p.(Val929Met), p.V929M) - COL6A2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4220C>T r.(=) p.(=) Unknown - VUS g.47552191G>A - COL6A2(NM_001849.4):c.2785G>A (p.(Val929Met), p.V929M) - COL6A2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4224G>C r.(=) p.(=) Unknown - likely benign g.47552187C>G g.46132273C>G COL6A2(NM_001849.3):c.2781C>G (p.(=)) - COL6A2_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4229T>C r.(=) p.(=) Unknown - VUS g.47552182A>G - - - FTCD_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4232T>G r.(=) p.(=) Unknown - VUS g.47552179A>C - COL6A2(NM_001849.4):c.2773A>C (p.(Ile925Leu)) - FTCD_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4236G>A r.(=) p.(=) Unknown - likely benign g.47552175C>T g.46132261C>T COL6A2(NM_001849.3):c.2769C>T (p.(His923=), p.H923=) - COL6A2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4236G>A r.(=) p.(=) Unknown - likely benign g.47552175C>T - COL6A2(NM_001849.3):c.2769C>T (p.(His923=), p.H923=) - COL6A2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4257G>T r.(=) p.(=) Unknown - likely benign g.47552154C>A g.46132240C>A COL6A2(NM_001849.3):c.2748C>A (p.H916Q, p.(His916Gln)) - COL6A2_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4257G>T r.(=) p.(=) Unknown - likely benign g.47552154C>A g.46132240C>A COL6A2(NM_001849.3):c.2748C>A (p.H916Q, p.(His916Gln)) - COL6A2_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4281T>C r.(=) p.(=) Unknown - benign g.47552130A>G g.46132216A>G COL6A2(NM_001849.4):c.2724A>G (p.T908=) - COL6A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4281T>C r.(=) p.(=) Unknown - benign g.47552130A>G g.46132216A>G COL6A2(NM_001849.4):c.2724A>G (p.T908=) - COL6A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4281T>C r.(=) p.(=) Unknown - benign g.47552130A>G g.46132216A>G COL6A2(NM_001849.4):c.2724A>G (p.T908=) - COL6A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4308C>A r.(=) p.(=) Unknown - benign g.47552103G>T g.46132189G>T COL6A2(NM_001849.3):c.2697G>T (p.(Thr899=)), COL6A2(NM_001849.4):c.2697G>T (p.T899=) - COL6A2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4308C>A r.(=) p.(=) Unknown - likely benign g.47552103G>T g.46132189G>T COL6A2(NM_001849.3):c.2697G>T (p.(Thr899=)), COL6A2(NM_001849.4):c.2697G>T (p.T899=) - COL6A2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4308C>A r.(=) p.(=) Unknown - benign g.47552103G>T g.46132189G>T COL6A2(NM_001849.3):c.2697G>T (p.(Thr899=)), COL6A2(NM_001849.4):c.2697G>T (p.T899=) - COL6A2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4322T>G r.(=) p.(=) Unknown - VUS g.47552089A>C g.46132175A>C COL6A2(NM_001849.3):c.2683A>C (p.S895R, p.(Ser895Arg)) - COL6A2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4322T>G r.(=) p.(=) Unknown - likely benign g.47552089A>C - COL6A2(NM_001849.3):c.2683A>C (p.S895R, p.(Ser895Arg)) - COL6A2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4344C>T r.(=) p.(=) Unknown - likely benign g.47552067G>A - COL6A2(NM_001849.3):c.2661G>A (p.(Glu887=)) - COL6A2_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4377G>A r.(=) p.(=) Unknown - likely benign g.47552034C>T g.46132120C>T COL6A2(NM_001849.3):c.2628C>T (p.R876=) - COL6A2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4382C>T r.(=) p.(=) Unknown - VUS g.47552029G>A - COL6A2(NM_001849.4):c.2623G>A (p.(Ala875Thr)) - FTCD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4398G>A r.(=) p.(=) Unknown - likely benign g.47552013C>T - COL6A2(NM_001849.3):c.2607C>T (p.(Asp869=)) - COL6A2_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4405C>T r.(=) p.(=) Unknown - VUS g.47552006G>A g.46132092G>A COL6A2(NM_001849.3):c.2600G>A (p.(Arg867Gln)) - COL6A2_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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