All variants in the TOE1 gene

Information The variants shown are described using the NM_025077.3 transcript reference sequence.

238 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.-10898C>T r.(?) p.(=) - benign g.45795027C>T g.45329355C>T MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-10898C>T r.(?) p.(=) - benign g.45795027C>T g.45329355C>T MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-10898C>T r.(?) p.(=) - likely benign g.45795027C>T - MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-10897G>A r.(?) p.(=) - likely benign g.45795028G>A g.45329356G>A MUTYH(NM_001128425.1):c.1600C>T (p.R534W) - MUTYH_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-10882G>T r.(?) p.(=) - likely benign g.45795043G>T - MUTYH(NM_001048171.1):c.1543C>A (p.(Leu515Met)) - MUTYH_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-10864G>A r.(?) p.(=) - likely benign g.45795061G>A g.45329389G>A - - MUTYH_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-10844G>T r.(?) p.(=) - likely benign g.45795081G>T g.45329409G>T MUTYH(NM_001128425.2):c.1547C>A (p.P516Q) - HPDL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-10841G>A r.(?) p.(=) - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-10841G>A r.(?) p.(=) - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-10841G>A r.(?) p.(=) - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.-10841G>A r.(?) p.(=) - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-10841G>A r.(?) p.(=) - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-10841G>A r.(?) p.(=) - likely benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-10834C>A r.(?) p.(=) - likely benign g.45795091C>A g.45329419C>A MUTYH(NM_001128425.2):c.1537G>T (p.V513L) - MUTYH_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-9710A>G r.(?) p.(=) - likely benign g.45796215A>G g.45330543A>G MUTYH(NM_001128425.1):c.1491T>C (p.Y497=) - MUTYH_000337 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-9684G>T r.(?) p.(=) - likely benign g.45796241G>T - - - HPDL_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-9656G>C r.(?) p.(=) - benign g.45796269G>C g.45330597G>C MUTYH(NM_001128425.1):c.1477-40C>G - MUTYH_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-9060C>T r.(?) p.(=) - VUS g.45796865C>T g.45331193C>T MUTYH(NM_001048171.1):c.1423G>A (p.(Ala475Thr)) - MUTYH_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-9044G>A r.(?) p.(=) - benign g.45796881G>A g.45331209G>A MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=) - MUTYH_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-9044G>A r.(?) p.(=) - benign g.45796881G>A - MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=) - MUTYH_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-9044G>A r.(?) p.(=) - benign g.45796881G>A - MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=) - MUTYH_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. - c.-9044G>A r.(?) p.(=) - likely benign g.45796881G>A - MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=) - MUTYH_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-9042T>G r.(?) p.(=) - benign g.45796883T>G g.45331211T>G MUTYH(NM_001128425.2):c.1447A>C (p.T483P) - MUTYH_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-9042T>G r.(?) p.(=) - likely benign g.45796883T>G g.45331211T>G MUTYH(NM_001128425.2):c.1447A>C (p.T483P) - MUTYH_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.-9030_-9028del r.(?) p.(=) - pathogenic g.45796895_45796897del g.45331223_45331225del MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.-9030_-9028del r.(?) p.(=) - pathogenic g.45796895_45796897del - MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-9026C>G r.(?) p.(=) - likely benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-9026C>G r.(?) p.(=) - benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.-9026C>G r.(?) p.(=) - benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-9026C>G r.(?) p.(=) - likely benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-9026C>G r.(?) p.(=) - likely benign g.45796899C>G - MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-8988G>C r.(?) p.(=) - likely benign g.45796937G>C g.45331265G>C MUTYH(NM_001128425.1):c.1393C>G (p.P465A), MUTYH(NM_001128425.2):c.1393C>G (p.P465A) - MUTYH_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.-8988G>C r.(?) p.(=) - VUS g.45796937G>C g.45331265G>C MUTYH(NM_001128425.1):c.1393C>G (p.P465A), MUTYH(NM_001128425.2):c.1393C>G (p.P465A) - MUTYH_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-8899G>A r.(?) p.(=) - benign g.45797026G>A g.45331354G>A MUTYH(NM_001128425.2):c.1324-20C>T - HPDL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-8820C>T r.(?) p.(=) - likely benign g.45797105C>T g.45331433C>T MUTYH(NM_001128425.2):c.1310G>A (p.R437Q) - MUTYH_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-8811G>A r.(?) p.(=) - likely benign g.45797114G>A - MUTYH(NM_001128425.2):c.1301C>T (p.T434M) - MUTYH_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-8792C>G r.(?) p.(=) - VUS g.45797133C>G - - - MUTYH_000415 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-8786G>A r.(?) p.(=) - likely benign g.45797139G>A g.45331467G>A MUTYH(NM_001128425.1):c.1276C>T (p.R426C), MUTYH(NM_001128425.2):c.1276C>T (p.R426C) - MUTYH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-8786G>A r.(?) p.(=) - VUS g.45797139G>A g.45331467G>A MUTYH(NM_001128425.1):c.1276C>T (p.R426C), MUTYH(NM_001128425.2):c.1276C>T (p.R426C) - MUTYH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-8786G>A r.(?) p.(=) - VUS g.45797139G>A - MUTYH(NM_001128425.1):c.1276C>T (p.R426C), MUTYH(NM_001128425.2):c.1276C>T (p.R426C) - MUTYH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-8786G>A r.(?) p.(=) - likely benign g.45797139G>A - MUTYH(NM_001128425.1):c.1276C>T (p.R426C), MUTYH(NM_001128425.2):c.1276C>T (p.R426C) - MUTYH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-8768G>T r.(?) p.(=) - likely benign g.45797157G>T g.45331485G>T MUTYH(NM_001128425.2):c.1258C>A (p.L420M) - MUTYH_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-8768G>T r.(?) p.(=) - VUS g.45797157G>T - MUTYH(NM_001128425.2):c.1258C>A (p.L420M) - MUTYH_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-8768G>T r.(?) p.(=) - likely benign g.45797157G>T - MUTYH(NM_001128425.2):c.1258C>A (p.L420M) - MUTYH_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-8760C>T r.(?) p.(=) - likely benign g.45797165C>T g.45331493C>T MUTYH(NM_001128425.2):c.1250G>A (p.R417H) - MUTYH_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-8751T>C r.(?) p.(=) - VUS g.45797174T>C g.45331502T>C MUTYH(NM_001128425.1):c.1241A>G (p.Q414R) - MUTYH_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-8737_-8736dup r.(?) p.(=) - pathogenic g.45797188_45797189dup g.45331516_45331517dup MUTYH(NM_001048171.1):c.1186_1187insGG (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_12... - MUTYH_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.-8737_-8736dup r.(?) p.(=) - pathogenic g.45797188_45797189dup g.45331516_45331517dup MUTYH(NM_001048171.1):c.1186_1187insGG (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_12... - MUTYH_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-8737_-8736dup r.(?) p.(=) - pathogenic g.45797188_45797189dup - MUTYH(NM_001048171.1):c.1186_1187insGG (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_12... - MUTYH_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-8724G>A r.(?) p.(=) - pathogenic g.45797201G>A g.45331529G>A MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L) - MUTYH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.-8724G>A r.(?) p.(=) - pathogenic g.45797201G>A g.45331529G>A MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L) - MUTYH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-8724G>A r.(?) p.(=) - pathogenic g.45797201G>A g.45331529G>A MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L) - MUTYH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-8724G>A r.(?) p.(=) - pathogenic g.45797201G>A g.45331529G>A MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L) - MUTYH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-8724G>A r.(?) p.(=) - pathogenic g.45797201G>A g.45331529G>A MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L) - MUTYH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.-8697C>T r.(?) p.(=) - pathogenic g.45797228C>T g.45331556C>T MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.-8697C>T r.(?) p.(=) - pathogenic g.45797228C>T g.45331556C>T MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.-8697C>T r.(?) p.(=) - pathogenic g.45797228C>T g.45331556C>T MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.-8697C>T r.(?) p.(=) - pathogenic g.45797228C>T g.45331556C>T MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-8697C>T r.(?) p.(=) - pathogenic g.45797228C>T g.45331556C>T MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-8697C>T r.(?) p.(=) - pathogenic g.45797228C>T g.45331556C>T MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-8697C>T r.(?) p.(=) - pathogenic g.45797228C>T - MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
+/. - c.-8697C>T r.(?) p.(=) - pathogenic g.45797228C>T - MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-8670G>A r.(?) p.(=) - benign g.45797255G>A g.45331583G>A - - MUTYH_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-8601T>A r.(?) p.(=) - likely benign g.45797324T>A g.45331652T>A MUTYH(NM_001128425.2):c.1186+9A>T - MUTYH_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-8601T>A r.(?) p.(=) - likely benign g.45797324T>A g.45331652T>A MUTYH(NM_001128425.2):c.1186+9A>T - MUTYH_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.-8577G>A r.(?) p.(=) - pathogenic g.45797348G>A g.45331676G>A MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377*)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*) - MUTYH_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-8577G>A r.(?) p.(=) - pathogenic g.45797348G>A - MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377*)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*) - MUTYH_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-8577G>A r.(?) p.(=) - pathogenic g.45797348G>A - MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377*)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*) - MUTYH_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.-8551del r.(?) p.(=) - pathogenic g.45797374del g.45331702del MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23) - MUTYH_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.-8551del r.(?) p.(=) - pathogenic g.45797374del g.45331702del MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23) - MUTYH_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-8551del r.(?) p.(=) - pathogenic g.45797374del g.45331702del MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23) - MUTYH_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.-8551del r.(?) p.(=) - pathogenic g.45797374del - MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23) - MUTYH_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-8461G>A r.(?) p.(=) - VUS g.45797464G>A - MUTYH(NM_001048171.1):c.1013C>T (p.(Thr338Ile)) - MUTYH_000446 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.-8444C>T r.(?) p.(=) - likely pathogenic g.45797481C>T g.45331809C>T MUTYH(NM_001128425.2):c.1038G>A (p.S346=) - MUTYH_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-8420C>G r.(?) p.(=) - benign g.45797505C>G g.45331833C>G MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H) - MUTYH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-8420C>G r.(?) p.(=) - benign g.45797505C>G g.45331833C>G MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H) - MUTYH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-8420C>G r.(?) p.(=) - benign g.45797505C>G g.45331833C>G MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H) - MUTYH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-8420C>G r.(?) p.(=) - benign g.45797505C>G g.45331833C>G MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H) - MUTYH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-8419T>C r.(?) p.(=) - VUS g.45797506T>C g.45331834T>C MUTYH(NM_001128425.1):c.1013A>G (p.(Gln338Arg)) - MUTYH_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-8410T>C r.(?) p.(=) - likely benign g.45797515T>C g.45331843T>C MUTYH(NM_001128425.2):c.1004A>G (p.N335S) - HPDL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-8406G>C r.(?) p.(=) - likely benign g.45797519G>C g.45331847G>C MUTYH(NM_001048171.1):c.958C>G (p.(Pro320Ala)), MUTYH(NM_001128425.1):c.1000C>G (p.P334A) - MUTYH_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-8406G>C r.(?) p.(=) - VUS g.45797519G>C - MUTYH(NM_001048171.1):c.958C>G (p.(Pro320Ala)), MUTYH(NM_001128425.1):c.1000C>G (p.P334A) - MUTYH_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-8391A>C r.(?) p.(=) - pathogenic g.45797534A>C g.45331862A>C MUTYH(NM_001128425.1):c.998-13T>G - MUTYH_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-8377C>T r.(?) p.(=) - VUS g.45797548C>T g.45331876C>T MUTYH(NM_001128425.1):c.998-27G>A - MUTYH_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-8377C>T r.(?) p.(=) - likely benign g.45797548C>T g.45331876C>T MUTYH(NM_001128425.1):c.998-27G>A - MUTYH_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-8230C>G r.(?) p.(=) - likely pathogenic g.45797695C>G g.45332023C>G MUTYH(NM_001048171.1):c.955G>C (p.(Ala319Pro)) - HPDL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-8165T>C r.(?) p.(=) - pathogenic g.45797760T>C g.45332088T>C MUTYH(NM_001128425.2):c.934-2A>G - MUTYH_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.-8165T>C r.(?) p.(=) - pathogenic g.45797760T>C - MUTYH(NM_001128425.2):c.934-2A>G - MUTYH_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-8097G>A r.(?) p.(=) - likely benign g.45797828G>A - - - HPDL_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-8090T>G r.(?) p.(=) - pathogenic g.45797835T>G g.45332163T>G - - MUTYH_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-8079G>A r.(?) p.(=) - likely benign g.45797846G>A g.45332174G>A MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-8079G>A r.(?) p.(=) - likely benign g.45797846G>A g.45332174G>A MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-8079G>A r.(?) p.(=) - VUS g.45797846G>A g.45332174G>A MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-8079G>A r.(?) p.(=) - likely benign g.45797846G>A g.45332174G>A MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-8079G>A r.(?) p.(=) - likely benign g.45797846G>A - MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-8079G>A r.(?) p.(=) - VUS g.45797846G>A - MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-8038G>A r.(?) p.(=) - pathogenic g.45797887G>A g.45332215G>A MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L) - MUTYH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.-8038G>A r.(?) p.(=) - pathogenic g.45797887G>A g.45332215G>A MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L) - MUTYH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.-8038G>A r.(?) p.(=) - pathogenic g.45797887G>A g.45332215G>A MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L) - MUTYH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-8038G>A r.(?) p.(=) - pathogenic g.45797887G>A - MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L) - MUTYH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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