All transcript variants in gene FREM2

Information The variants shown are described using the NM_207361.4 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+?/. 1 c.15del - r.(15del) p.(Thr6Leufs*36) g.39261496del g.38687359del - - FREM2_000002 - - - - Germline - - - 0 - Qian Yu
-?/. - c.109C>T likely benign r.(?) p.(Leu37Phe) g.39261590C>T - FREM2:NM_207361.4:c.109C>T - FREM2_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.245C>T VUS r.(?) p.(Pro82Leu) g.39261726C>T - FREM2:NM_207361.4:c.245C>T - FREM2_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.532C>T VUS r.(?) p.(Gln178*) g.39262013C>T - FREM2:c.532C>T (Q178*) - FREM2_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.576G>A benign r.(=) p.(=) g.39262057G>A - FREM2:c.576G>A (=) - FREM2_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.576G>A benign r.(=) p.(=) g.39262057G>A - FREM2:c.576G>A (=) - FREM2_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1122T>A likely benign r.(?) p.(Asp374Glu) g.39262603T>A - FREM2:NM_207361.4:c.1122T>A - FREM2_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1472A>G VUS r.(?) p.(His491Arg) g.39262953A>G - FREM2:c.1472A>G (H491R) - FREM2_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1505C>T VUS r.(?) p.(Ser502Phe) g.39262986C>T - FREM2:c.1505C>T (S502F) - FREM2_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1542C>T benign r.(=) p.(=) g.39263023C>T - FREM2:c.1542C>T (=) - FREM2_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1605C>T VUS r.(=) p.(=) g.39263086C>T - FREM2:c.1605C>T (R535=) - FREM2_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1677G>C likely benign r.(?) p.(Gln559His) g.39263158G>C - FREM2:NM_207361.4:c.1677G>C - FREM2_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1913G>A likely benign r.(?) p.(Arg638Gln) g.39263394G>A - FREM2:NM_207361.4:c.1913G>A - FREM2_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1941C>T benign r.(=) p.(=) g.39263422C>T - FREM2:c.1941C>T (=) - FREM2_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1959G>T benign r.(=) p.(=) g.39263440G>T - FREM2:c.1959G>T (=) - FREM2_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2053G>A VUS r.(?) p.(Gly685Arg) g.39263534G>A - FREM2:NM_207361.4:c.2053G>A - FREM2_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2111G>A likely benign r.(?) p.(Gly704Asp) g.39263592G>A - FREM2:NM_207361.4:c.2111G>A - FREM2_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.2128C>T benign r.(?) p.(Arg710Cys) g.39263609C>T - FREM2:c.2128C>T (R710C) - FREM2_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2128C>T VUS r.(?) p.(Arg710Cys) g.39263609C>T - FREM2:NM_207361.4:c.2128C>T - FREM2_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.2165G>A benign r.(?) p.(Arg722Lys) g.39263646G>A - FREM2:c.2165G>A (R722K) - FREM2_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2179C>T VUS r.(?) p.(Arg727Cys) g.39263660C>T - FREM2:c.2179C>T (R727C) - FREM2_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2206C>T pathogenic r.(?) p.(Arg736*) g.39263687C>T - FREM2:c.2206C>T (R736*) - FREM2_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2233T>C benign r.(?) p.(Ser745Pro) g.39263714T>C - FREM2:c.2233T>C (S745P) - FREM2_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2233T>C benign r.(?) p.(Ser745Pro) g.39263714T>C - FREM2:c.2233T>C (S745P) - FREM2_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2233T>G VUS r.(?) p.(Ser745Ala) g.39263714T>G - FREM2:c.2233T>G (S745A) - FREM2_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2250C>T benign r.(=) p.(=) g.39263731C>T - FREM2:c.2250C>T (=) - FREM2_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2250C>T benign r.(=) p.(=) g.39263731C>T - FREM2:c.2250C>T (=) - FREM2_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2600C>T likely benign r.(?) p.(Thr867Ile) g.39264081C>T - FREM2:NM_207361.4:c.2600C>T - FREM2_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.2602C>G benign r.(?) p.(Leu868Val) g.39264083C>G - FREM2:c.2602C>G (L868V) - FREM2_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.2695C>T pathogenic r.(?) p.(Arg899*) g.39264176C>T - FREM2:c.2695C>T (R899*) - FREM2_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2987T>A VUS r.(?) p.(Val996Asp) g.39264468T>A - FREM2:NM_207361.5:c.2987T>A (Val996Asp) - FREM2_000133 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.3158T>G VUS r.(?) p.(Val1053Gly) g.39264639T>G - FREM2:NM_207361.5:c.3158T>G (Val1053Gly) - FREM2_000134 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.3209T>C benign r.(?) p.(Phe1070Ser) g.39264690T>C - FREM2:c.3209T>C (F1070S) - FREM2_000029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.3271A>G likely benign r.(?) p.(Ser1091Gly) g.39264752A>G - FREM2:c.3271A>G (S1091G) - FREM2_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.3931G>T pathogenic r.(?) p.(Gly1311*) g.39265412G>T - FREM2:c.3931G>T (G1311*) - FREM2_000031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.4077T>A benign r.(=) p.(=) g.39265558T>A - FREM2:c.4077T>A (=) - FREM2_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.4319C>A VUS r.(?) p.(Thr1440Lys) g.39265800C>A - FREM2:NM_207361.4:c.4319C>A - FREM2_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.4396C>T pathogenic r.(?) p.(Arg1466*) g.39265877C>T - FREM2:c.4396C>T (R1466*) - FREM2_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.4432T>C likely benign r.(?) p.(Ser1478Pro) g.39265913T>C - FREM2:NM_207361.4:c.4432T>C - FREM2_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.4654A>C likely pathogenic r.(?) p.(Thr1552Pro) g.39266135A>C - FREM2:c.4654A>C (T1552P) - FREM2_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.4849T>C likely pathogenic r.(?) p.(Ser1617Pro) g.39266330T>C - FREM2:c.4849T>C (S1617P) - FREM2_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.4901C>T benign r.(?) p.(Thr1634Met) g.39266382C>T - FREM2:c.4901C>T (T1634M) - FREM2_000038 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.4991C>T likely benign r.(?) p.(Ala1664Val) g.39266472C>T - FREM2:NM_207361.4:c.4991C>T - FREM2_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.5003G>A benign r.(?) p.(Arg1668His) g.39266484G>A - FREM2:c.5003G>A (R1668H) - FREM2_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.5059G>T likely benign r.(?) p.(Glu1687*) g.39266540G>T - FREM2:NM_207361.4:c.5059G>T - FREM2_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.5060A>C likely benign r.(?) p.(Glu1687Ala) g.39266541A>C - FREM2:NM_207361.4:c.5060A>C - FREM2_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.5119G>A VUS r.(?) p.(Gly1707Arg) g.39266600G>A - FREM2:c.5119G>A (G1707R) - FREM2_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5138A>G benign r.(?) p.(Asp1713Gly) g.39266619A>G - FREM2:c.5138A>G (D1713G) - FREM2_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.5162A>C VUS r.(?) p.(Gln1721Pro) g.39266643A>C - FREM2:c.5162A>C (Q1721P) - FREM2_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.5166C>A VUS r.(?) p.(Phe1722Leu) g.39266647C>A - FREM2:c.5166C>A (F1722L) - FREM2_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.5173+1G>T VUS r.spl? p.? g.39266655G>T - FREM2:c.5173+1G>T - FREM2_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5173+75A>T benign r.(=) p.(=) g.39266729A>T - FREM2:c.5173+75A>T - FREM2_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5173+208T>C benign r.(=) p.(=) g.39266862T>C - FREM2:c.5173+208T>C - FREM2_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.5183A>C VUS r.(?) p.(Asp1728Ala) g.39271844A>C - FREM2:NM_207361.4:c.5183A>C - FREM2_000050 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.5263+2T>C pathogenic r.spl? p.? g.39271926T>C - FREM2:c.5263+2T>C - FREM2_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5263+154C>G benign r.(=) p.(=) g.39272078C>G - FREM2:c.5263+154C>G - FREM2_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5410+25T>C benign r.(=) p.(=) g.39338612T>C - FREM2:c.5410+25T>C - FREM2_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.5417G>A VUS r.(?) p.(Gly1806Asp) g.39343721G>A - FREM2:c.5417G>A (G1806D) - FREM2_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.5434G>A VUS r.(?) p.(Ala1812Thr) g.39343738G>A - FREM2:NM_207361.4:c.5434G>A - FREM2_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.5518C>T benign r.(?) p.(Arg1840Trp) g.39343822C>T - FREM2:c.5518C>T (R1840W) - FREM2_000056 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.5533G>A likely benign r.(?) p.(Gly1845Arg) g.39343837G>A - FREM2:NM_207361.4:c.5533G>A - FREM2_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.5642-19A>G benign r.(=) p.(=) g.39357188A>G - FREM2:c.5642-19A>G - FREM2_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5642-9T>C benign r.(=) p.(=) g.39357198T>C - FREM2:c.5642-9T>C - FREM2_000059 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.5750dup pathogenic r.(?) p.(Cys1918Leufs*21) g.39357315dup - FREM2:c.5752dupT (C1918Lfs*21) - FREM2_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5767+97A>C benign r.(=) p.(=) g.39357429A>C - FREM2:c.5767+97A>C - FREM2_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.5914G>A pathogenic r.(?) p.(Glu1972Lys) g.39358840G>A - FREM2:c.5914G>A (E1972K) - FREM2_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.5917G>T pathogenic r.(?) p.(Glu1973*) g.39358843G>T - FREM2:c.5917G>T (E1973*) - FREM2_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.5937_5940delinsC - r.(?) p.(Leu1981del) g.39358863_39358866delCCTTinsC g.38784726_38784729delinsC - - FREM2_000001 in-frame deletion PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.6019+22356C>A benign r.(=) p.(=) g.39381301C>A - FREM2:c.6019+22356C>A - FREM2_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.6020-149A>G benign r.(=) p.(=) g.39420561A>G - FREM2:c.6020-149A>G - FREM2_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.6020-111G>A benign r.(=) p.(=) g.39420599G>A - FREM2:c.6020-111G>A - FREM2_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.6067G>A likely benign r.(?) p.(Ala2023Thr) g.39420757G>A - FREM2:NM_207361.4:c.6067G>A - FREM2_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.6071G>A VUS r.(?) p.(Gly2024Asp) g.39420761G>A - FREM2:c.6071G>A (G2024D) - FREM2_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.6169+64T>G benign r.(=) p.(=) g.39420923T>G - FREM2:c.6169+64T>G - FREM2_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.6169+112A>G benign r.(=) p.(=) g.39420971A>G - FREM2:c.6169+112A>G - FREM2_000135 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.6170-91A>G likely benign r.(=) p.(=) g.39422507A>G - FREM2:c.6170-91A>G - FREM2_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.6170-90G>A likely benign r.(=) p.(=) g.39422508G>A - FREM2:c.6170-90G>A - FREM2_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.6196C>T likely benign r.(?) p.(Arg2066Cys) g.39422624C>T - FREM2:c.6196C>T (R2066C) - FREM2_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.6334G>A likely benign r.(?) p.(Glu2112Lys) g.39422762G>A - FREM2:NM_207361.4:c.6334G>A - FREM2_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.6379+38T>G benign r.(=) p.(=) g.39422845T>G - FREM2:c.6379+38T>G - FREM2_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.6380-40C>G likely benign r.(=) p.(=) g.39424135C>G - FREM2:c.6380-40C>G - FREM2_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.6394T>G likely pathogenic r.(?) p.(Phe2132Val) g.39424189T>G - FREM2:c.6394T>G (F2132V) - FREM2_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.6404G>A likely benign r.(?) p.(Arg2135Gln) g.39424199G>A - FREM2:NM_207361.4:c.6404G>A - FREM2_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.6458C>G benign r.(?) p.(Thr2153Ser) g.39424253C>G - FREM2:c.6458C>G (T2153S) - FREM2_000078 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.6459T>C benign r.(=) p.(=) g.39424254T>C - FREM2:c.6459T>C (=) - FREM2_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 9 c.6499C>T - r.(?) p.(Arg2167Trp) g.39424294C>T g.38850157C>T - - FREM2_000003 - - - - Germline - - - 0 - Qian Yu
+?/. - c.6499C>T likely pathogenic r.(?) p.(Arg2167Trp) g.39424294C>T - FREM2:c.6499C>T (R2167W) - FREM2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.6537A>C likely pathogenic r.(?) p.(Glu2179Asp) g.39424332A>C - FREM2:c.6537A>C (E2179D) - FREM2_000136 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.6578-203G>A benign r.(=) p.(=) g.39424878G>A - FREM2:c.6578-203G>A - FREM2_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.6826G>A benign r.(?) p.(Val2276Met) g.39425906G>A - FREM2:c.6826G>A (V2276M) - FREM2_000081 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.6857C>G VUS r.(?) p.(Ser2286Cys) g.39425937C>G - FREM2:NM_207361.4:c.6857C>G - FREM2_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.6925+33A>G benign r.(=) p.(=) g.39426038A>G - FREM2:c.6925+33A>G - FREM2_000083 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.6977C>T benign r.(?) p.(Thr2326Ile) g.39430314C>T - FREM2:c.6977C>T (T2326I) - FREM2_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.6977C>T benign r.(?) p.(Thr2326Ile) g.39430314C>T - FREM2:c.6977C>T (T2326I) - FREM2_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.6989T>C likely benign r.(?) p.(Val2330Ala) g.39430326T>C - FREM2:NM_207361.4:c.6989T>C - FREM2_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.7013C>T VUS r.(?) p.(Thr2338Ile) g.39430350C>T - FREM2:c.7013C>T (T2338I) - FREM2_000086 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.7056+50G>A benign r.(=) p.(=) g.39430443G>A - FREM2:c.7056+50G>A - FREM2_000087 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.7057-177C>T benign r.(=) p.(=) g.39431835C>T - FREM2:c.7057-177C>T - FREM2_000088 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.7057-67T>C benign r.(=) p.(=) g.39431945T>C - FREM2:c.7057-67T>C - FREM2_000089 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.7215+2T>C pathogenic r.spl? p.? g.39432172T>C - FREM2:c.7215+2T>C - FREM2_000090 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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