Full data view for gene FREM1

Information The variants shown are described using the NM_144966.5 transcript reference sequence.

245 entries on 3 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.-268+2T>A r.spl? p.? Unknown - VUS g.14909910A>T g.14909912A>T FREM1(NM_144966.5):c.-268+2T>A - FREM1_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-135G>C r.(?) p.(=) Unknown - benign g.14869110C>G g.14869112C>G FREM1(NM_144966.5):c.-135G>C - FREM1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4A>T r.(?) p.(Asn2Tyr) Unknown - likely benign g.14868972T>A g.14868974T>A FREM1(NM_144966.5):c.4A>T (p.N2Y) - FREM1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.227_234+2del r.spl? p.? Unknown - pathogenic g.14868740_14868749del g.14868742_14868751del FREM1(NM_144966.5):c.227_234+2delCTCCACAGGT - FREM1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.234+4_234+6del r.spl? p.? Unknown - pathogenic g.14868736_14868738del g.14868738_14868740del FREM1(NM_144966.5):c.234+4_234+6delGGT - FREM1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.234+89T>A r.(=) p.(=) Unknown - benign g.14868653A>T g.14868655A>T FREM1(NM_144966.5):c.234+89T>A - FREM1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.279C>T r.(?) p.(His93=) Unknown - likely benign g.14863857G>A g.14863859G>A FREM1(NM_144966.5):c.279C>T (p.H93=) - FREM1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.329+10A>C r.(=) p.(=) Unknown - likely benign g.14863797T>G g.14863799T>G FREM1(NM_144966.5):c.329+10A>C - FREM1_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.329+84G>A r.(=) p.(=) Unknown - benign g.14863723C>T g.14863725C>T FREM1(NM_144966.5):c.329+84G>A - FREM1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.348_351del r.(?) p.(Phe117Ter) Unknown - likely pathogenic g.14859462_14859465del g.14859464_14859467del FREM1(NM_144966.5):c.348_351delCTTC (p.F117*) - FREM1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.424C>T r.(?) p.(Leu142=) Unknown - likely benign g.14859388G>A g.14859390G>A FREM1(NM_144966.5):c.424C>T (p.L142=) - FREM1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.456A>G r.(?) p.(Gln152=) Unknown - benign g.14859356T>C g.14859358T>C FREM1(NM_144966.5):c.456A>G (p.Q152=) - FREM1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.516C>T r.(?) p.(Thr172=) Unknown - benign g.14859296G>A g.14859298G>A FREM1(NM_144966.5):c.516C>T (p.T172=) - FREM1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.516C>T r.(=) p.(=) Parent #1 - likely benign g.14859296G>A g.14859298G>A - - FREM1_000175 155 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41265310 Germline - 155/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 155 Mohammed Faruq
-?/. - c.516C>T r.(=) p.(=) Both (homozygous) - likely benign g.14859296G>A g.14859298G>A - - FREM1_000175 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41265310 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
-?/. - c.578C>G r.(?) p.(Pro193Arg) Unknown - likely benign g.14859234G>C - FREM1(NM_144966.5):c.578C>G (p.P193R) - FREM1_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.635T>G r.(?) p.(Leu212Arg) Unknown - likely benign g.14857744A>C - FREM1(NM_144966.5):c.635T>G (p.L212R) - FREM1_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.639A>G r.(?) p.(Arg213=) Unknown - benign g.14857740T>C g.14857742T>C FREM1(NM_144966.5):c.639A>G (p.R213=) - FREM1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.789A>C r.(?) p.(Gln263His) Unknown - likely benign g.14857590T>G g.14857592T>G FREM1(NM_144966.5):c.789A>C (p.Q263H) - FREM1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.795C>A r.(?) p.(Asp265Glu) Unknown - VUS g.14857584G>T - FREM1(NM_144966.5):c.795C>A (p.D265E) - FREM1_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.828+33G>C r.(=) p.(=) Unknown - benign g.14857518C>G g.14857520C>G FREM1(NM_144966.5):c.828+33G>C - FREM1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.829-177A>G r.(=) p.(=) Unknown - benign g.14851782T>C g.14851784T>C FREM1(NM_144966.5):c.829-177A>G - FREM1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.829-98C>T r.(=) p.(=) Unknown - benign g.14851703G>A g.14851705G>A FREM1(NM_144966.5):c.829-98C>T - FREM1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.829-12A>G r.(=) p.(=) Unknown - benign g.14851617T>C g.14851619T>C FREM1(NM_144966.5):c.829-12A>G - FREM1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.829-12A>G r.(=) p.(=) Unknown - benign g.14851617T>C g.14851619T>C FREM1(NM_144966.5):c.829-12A>G - FREM1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.840G>A r.(?) p.(Ala280=) Unknown - benign g.14851594C>T g.14851596C>T FREM1(NM_144966.5):c.840G>A (p.A280=) - FREM1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.854A>G r.(?) p.(Tyr285Cys) Unknown - VUS g.14851580T>C g.14851582T>C FREM1(NM_144966.5):c.854A>G (p.Y285C) - FREM1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.922G>C r.(?) p.(Asp308His) Unknown - VUS g.14851512C>G g.14851514C>G FREM1(NM_144966.5):c.922G>C (p.D308H) - FREM1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1016C>G r.(?) p.(Ala339Gly) Unknown - likely benign g.14851418G>C g.14851420G>C FREM1(NM_144966.5):c.1016C>G (p.A339G) - FREM1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1072T>G r.(?) p.(Phe358Val) Unknown - VUS g.14851362A>C g.14851364A>C FREM1(NM_144966.5):c.1072T>G (p.(Phe358Val)) - FREM1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1130A>C r.(?) p.(His377Pro) Unknown - VUS g.14851304T>G - FREM1(NM_144966.5):c.1130A>C (p.H377P) - FREM1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1152+193G>A r.(=) p.(=) Unknown - benign g.14851089C>T g.14851091C>T FREM1(NM_144966.5):c.1152+193G>A - FREM1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1153-157A>G r.(=) p.(=) Unknown - likely benign g.14848928T>C g.14848930T>C FREM1(NM_144966.5):c.1153-157A>G - FREM1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1153-144A>T r.(=) p.(=) Unknown - benign g.14848915T>A g.14848917T>A FREM1(NM_144966.5):c.1153-144A>T - FREM1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1153-121T>C r.(=) p.(=) Unknown - benign g.14848892A>G g.14848894A>G FREM1(NM_144966.5):c.1153-121T>C - FREM1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1153-102G>A r.(=) p.(=) Unknown - benign g.14848873C>T g.14848875C>T FREM1(NM_144966.5):c.1153-102G>A - FREM1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1153-31G>A r.(=) p.(=) Unknown - benign g.14848802C>T g.14848804C>T FREM1(NM_144966.5):c.1153-31G>A - FREM1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1262-33G>C r.(=) p.(=) Unknown - benign g.14846122C>G g.14846124C>G FREM1(NM_144966.5):c.1262-33G>C - FREM1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1288C>T r.(?) p.(Arg430Ter) Unknown - pathogenic g.14846063G>A g.14846065G>A FREM1(NM_144966.5):c.1288C>T (p.R430*) - FREM1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1289G>A r.(?) p.(Arg430Gln) Unknown - VUS g.14846062C>T g.14846064C>T FREM1(NM_144966.5):c.1289G>A (p.(Arg430Gln)) - FREM1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1315G>C r.(?) p.(Val439Leu) Unknown - benign g.14846036C>G g.14846038C>G FREM1(NM_144966.5):c.1315G>C (p.V439L) - FREM1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1315G>C r.(?) p.(Val439Leu) Unknown - benign g.14846036C>G g.14846038C>G FREM1(NM_144966.5):c.1315G>C (p.V439L) - FREM1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1325A>G r.(?) p.(Asn442Ser) Unknown - VUS g.14846026T>C g.14846028T>C FREM1(NM_144966.5):c.1325A>G (p.N442S) - FREM1_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1329C>T r.(?) p.(Asp443=) Unknown - likely benign g.14846022G>A - FREM1(NM_144966.5):c.1329C>T (p.D443=) - FREM1_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1345C>T r.(?) p.(Arg449Trp) Parent #1 - VUS g.14846006G>A g.14846008G>A - - FREM1_000187 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148995688 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1357G>A r.(?) p.(Val453Ile) Unknown - VUS g.14845994C>T - FREM1(NM_144966.5):c.1357G>A (p.V453I) - FREM1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1394G>C r.(?) p.(Gly465Ala) Unknown - benign g.14842658C>G g.14842660C>G FREM1(NM_144966.5):c.1394G>C (p.G465A) - FREM1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1464C>T r.(?) p.(Ser488=) Unknown - benign g.14842588G>A - FREM1(NM_144966.5):c.1464C>T (p.S488=) - FREM1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1465G>A r.(?) p.(Asp489Asn) Unknown - VUS g.14842587C>T g.14842589C>T FREM1(NM_144966.5):c.1465G>A (p.D489N) - FREM1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1492C>T r.(?) p.(Arg498Trp) Unknown - benign g.14842560G>A - FREM1(NM_144966.5):c.1492C>T (p.R498W) - FREM1_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1493G>A r.(?) p.(Arg498Gln) Unknown - VUS g.14842559C>T g.14842561C>T FREM1(NM_144966.5):c.1493G>A (p.R498Q) - FREM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? ? c.1493G>A r.(?) p.(Arg498Gln) Unknown - pathogenic g.14842559C>T g.14842561C>T - - FREM1_000001 submitted through SIB; ExPASy_067916; {dbSNP184394424} PubMed: Vissers et al (2011) - - Unknown - - - 0 - DNA SEQ - - TRIGNO2 - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.1493G>A r.(?) p.(Arg498Gln) Unknown - VUS g.14842559C>T g.14842561C>T FREM1(NM_144966.5):c.1493G>A (p.R498Q) - FREM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1493G>A r.(?) p.(Arg498Gln) Parent #1 - VUS g.14842559C>T g.14842561C>T - - FREM1_000001 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs184394424 Germline - 1/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.1495A>G r.(?) p.(Ile499Val) Unknown - benign g.14842557T>C g.14842559T>C FREM1(NM_144966.5):c.1495A>G (p.I499V) - FREM1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1495A>G r.(?) p.(Ile499Val) Parent #1 - likely benign g.14842557T>C g.14842559T>C - - FREM1_000094 140 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1353223 Germline - 140/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 140 Mohammed Faruq
-?/. - c.1495A>G r.(?) p.(Ile499Val) Both (homozygous) - likely benign g.14842557T>C g.14842559T>C - - FREM1_000094 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1353223 Germline - 4/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
-?/. - c.1520G>A r.(?) p.(Arg507His) Unknown - likely benign g.14842532C>T - FREM1(NM_144966.5):c.1520G>A (p.R507H) - FREM1_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1637G>A r.(?) p.(Arg546Gln) Unknown - VUS g.14842415C>T g.14842417C>T FREM1(NM_144966.5):c.1637G>A (p.R546Q) - FREM1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1695A>C r.(?) p.(Pro565=) Unknown - likely benign g.14842357T>G g.14842359T>G FREM1(NM_144966.5):c.1695A>C (p.P565=) - FREM1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1723G>A r.(?) p.(Gly575Arg) Unknown - VUS g.14842329C>T g.14842331C>T FREM1(NM_144966.5):c.1723G>A (p.G575R) - FREM1_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1738+47A>G r.(=) p.(=) Unknown - benign g.14842267T>C g.14842269T>C FREM1(NM_144966.5):c.1738+47A>G - FREM1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1739-46T>C r.(=) p.(=) Unknown - benign g.14841633A>G g.14841635A>G FREM1(NM_144966.5):c.1739-46T>C - FREM1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1791T>C r.(?) p.(Tyr597=) Unknown - benign g.14841535A>G g.14841537A>G FREM1(NM_144966.5):c.1791T>C (p.Y597=) - FREM1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1881+58G>C r.(=) p.(=) Unknown - benign g.14841387C>G g.14841389C>G FREM1(NM_144966.5):c.1881+58G>C - FREM1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1945C>T r.(?) p.(Arg649Trp) Unknown - VUS g.14824927G>A g.14824929G>A FREM1(NM_144966.5):c.1945C>T (p.R649W) - FREM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? ? c.1945C>T r.(?) p.(Arg649Trp) Unknown - pathogenic g.14824927G>A g.14824929G>A - - FREM1_000003 submitted through SIB; ExPASy_063422; {dbSNP121912609} PubMed: Alazami et al (2009) - - Unknown - - - 0 - DNA SEQ - - BNAR - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.1949A>C r.(?) p.(His650Pro) Unknown - VUS g.14824923T>G g.14824925T>G FREM1(NM_144966.5):c.1949A>C (p.H650P) - FREM1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1953G>T r.(?) p.(Leu651Phe) Unknown - VUS g.14824919C>A - FREM1(NM_144966.5):c.1953G>T (p.L651F) - FREM1_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2042C>T r.(?) p.(Thr681Ile) Unknown - VUS g.14824830G>A g.14824832G>A FREM1(NM_144966.5):c.2042C>T (p.T681I, p.(Thr681Ile)) - FREM1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2042C>T r.(?) p.(Thr681Ile) Unknown - VUS g.14824830G>A g.14824832G>A FREM1(NM_144966.5):c.2042C>T (p.T681I, p.(Thr681Ile)) - FREM1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2044A>G r.(?) p.(Ile682Val) Unknown - VUS g.14824828T>C g.14824830T>C FREM1(NM_144966.5):c.2044A>G (p.I682V) - FREM1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2061T>C r.(?) p.(Phe687=) Unknown - likely benign g.14824811A>G - FREM1(NM_144966.5):c.2061T>C (p.F687=) - FREM1_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2073C>T r.(?) p.(Ser691=) Unknown - benign g.14824799G>A g.14824801G>A FREM1(NM_144966.5):c.2073C>T (p.S691=) - FREM1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2078+83_2078+84del r.(=) p.(=) Unknown - benign g.14824723_14824724del g.14824725_14824726del FREM1(NM_144966.5):c.2078+83_2078+84delTA - FREM1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2079-173T>C r.(=) p.(=) Unknown - benign g.14824286A>G g.14824288A>G FREM1(NM_144966.5):c.2079-173T>C - FREM1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2079-4T>G r.spl? p.? Unknown - likely benign g.14824117A>C g.14824119A>C FREM1(NM_144966.5):c.2079-4T>G - FREM1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2083T>C r.(?) p.(Leu695=) Unknown - likely benign g.14824109A>G g.14824111A>G FREM1(NM_144966.5):c.2083T>C (p.L695=) - FREM1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2097_2100del r.(?) p.(Lys699AsnfsTer10) Unknown - pathogenic g.14824093_14824096del g.14824095_14824098del - - FREM1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2104A>G r.(?) p.(Met702Val) Unknown - benign g.14824088T>C g.14824090T>C FREM1(NM_144966.5):c.2104A>G (p.M702V) - FREM1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2212C>G r.(?) p.(Gln738Glu) Unknown - VUS g.14823283G>C - FREM1(NM_144966.5):c.2212C>G (p.Q738E) - FREM1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2270A>G r.(?) p.(His757Arg) Unknown - VUS g.14823225T>C g.14823227T>C FREM1(NM_144966.5):c.2270A>G (p.H757R) - FREM1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2277T>C r.(?) p.(Gly759=) Unknown - likely benign g.14823218A>G g.14823220A>G FREM1(NM_144966.5):c.2277T>C (p.G759=) - FREM1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2338-75C>T r.(=) p.(=) Unknown - benign g.14819515G>A g.14819517G>A FREM1(NM_144966.5):c.2338-75C>T - FREM1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2408C>A r.(?) p.(Ser803Tyr) Unknown - benign g.14819370G>T g.14819372G>T FREM1(NM_144966.5):c.2408C>A (p.S803Y) - FREM1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2408C>A r.(?) p.(Ser803Tyr) Unknown - benign g.14819370G>T g.14819372G>T FREM1(NM_144966.5):c.2408C>A (p.S803Y) - FREM1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2420C>G r.(?) p.(Thr807Ser) Unknown - likely benign g.14819358G>C g.14819360G>C FREM1(NM_144966.5):c.2420C>G (p.(Thr807Ser)) - FREM1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2459C>T r.(?) p.(Pro820Leu) Unknown - VUS g.14819319G>A g.14819321G>A FREM1(NM_144966.5):c.2459C>T (p.P820L) - FREM1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2459C>T r.(?) p.(Pro820Leu) Unknown - VUS g.14819319G>A g.14819321G>A FREM1(NM_144966.5):c.2459C>T (p.P820L) - FREM1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2461C>T r.(?) p.(Leu821=) Unknown - VUS g.14819317G>A g.14819319G>A FREM1(NM_144966.5):c.2461C>T (p.L821=) - FREM1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2547-199G>A r.(=) p.(=) Unknown - benign g.14817068C>T g.14817070C>T FREM1(NM_144966.5):c.2547-199G>A - FREM1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2547-173G>A r.(=) p.(=) Unknown - benign g.14817042C>T g.14817044C>T FREM1(NM_144966.5):c.2547-173G>A - FREM1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2587C>G r.(?) p.(Leu863Val) Unknown - benign g.14816829G>C g.14816831G>C FREM1(NM_144966.5):c.2587C>G (p.L863V) - FREM1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2641-10C>T r.(=) p.(=) Unknown - benign g.14813072G>A g.14813074G>A FREM1(NM_144966.5):c.2641-10C>T - FREM1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2714G>A r.(?) p.(Gly905Glu) Unknown - benign g.14812989C>T g.14812991C>T FREM1(NM_144966.5):c.2714G>A (p.G905E) - FREM1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2739_2747delinsAATTTTCT r.(?) p.(Tyr913Ter) Unknown - likely pathogenic g.14812956_14812964delinsAGAAAATT g.14812958_14812966delinsAGAAAATT - - FREM1_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2764G>A r.(?) p.(Asp922Asn) Unknown - likely benign g.14812939C>T g.14812941C>T FREM1(NM_144966.5):c.2764G>A (p.D922N) - FREM1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2796C>T r.(?) p.(Arg932=) Unknown - likely benign g.14812907G>A - FREM1(NM_144966.5):c.2796C>T (p.R932=) - FREM1_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2796C>T r.(?) p.(Arg932=) Unknown - likely benign g.14812907G>A - FREM1(NM_144966.5):c.2796C>T (p.R932=) - FREM1_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2875G>A r.(?) p.(Val959Met) Unknown - VUS g.14812828C>T - FREM1(NM_144966.5):c.2875G>A (p.V959M) - FREM1_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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