All variants in the AFF2 gene

Information The variants shown are described using the NM_002025.3 transcript reference sequence.

106 entries on 2 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.48-254dup r.(=) p.(=) - VUS g.147733266dup g.148651745dup - - AFF2_000062 - - - - Germline - - - - - Yu Sun
?/. - c.143T>G r.(?) p.(Phe48Cys) - VUS g.147733615T>G - AFF2(NM_002025.3):c.143T>G (p.F48C) - AFF2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.178T>C r.(?) p.(Tyr60His) - VUS g.147733650T>C g.148652129T>C AFF2(NM_002025.3):c.178T>C (p.Y60H) - AFF2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.178T>C r.(?) p.(Tyr60His) - VUS g.147733650T>C - AFF2(NM_002025.3):c.178T>C (p.Y60H) - AFF2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.179A>G r.(?) p.(Tyr60Cys) - VUS g.147733651A>G g.148652130A>G AFF2(NM_002025.3):c.179A>G (p.Y60C) - AFF2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.257C>T r.(?) p.(Thr86Ile) - VUS g.147743505C>T g.148661984C>T AFF2(NM_001169122.1):c.245C>T (p.(Thr82Ile)) - AFF2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.493A>G r.(?) p.(Asn165Asp) - likely benign g.147743741A>G g.148662220A>G AFF2(NM_001169122.1):c.481A>G (p.(Asn161Asp)), AFF2(NM_002025.3):c.493A>G (p.N165D) - AFF2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.493A>G r.(?) p.(Asn165Asp) - likely benign g.147743741A>G g.148662220A>G AFF2(NM_001169122.1):c.481A>G (p.(Asn161Asp)), AFF2(NM_002025.3):c.493A>G (p.N165D) - AFF2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.496C>T r.(?) p.(Pro166Ser) - likely benign g.147743744C>T g.148662223C>T AFF2(NM_002025.3):c.496C>T (p.P166S) - AFF2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.496C>T r.(?) p.(Pro166Ser) - likely benign g.147743744C>T g.148662223C>T AFF2(NM_002025.3):c.496C>T (p.P166S) - AFF2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.501C>T r.(?) p.(Ser167=) - likely benign g.147743749C>T - AFF2(NM_002025.3):c.501C>T (p.S167=) - AFF2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.566C>G r.(?) p.(Ser189Cys) - likely benign g.147743814C>G g.148662293C>G AFF2(NM_002025.3):c.566C>G (p.S189C) - AFF2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.613C>T r.(?) p.(Gln205Ter) - pathogenic g.147743861C>T g.148662340C>T AFF2(NM_002025.3):c.613C>T (p.Q205*) - AFF2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.743C>T r.(?) p.(Ala248Val) - likely benign g.147743991C>T g.148662470C>T AFF2(NM_002025.3):c.743C>T (p.A248V) - AFF2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1041+56448G>A r.(=) p.(=) - likely benign g.147800737G>A g.148719216C>A AFF2(NM_001170628.1):c.33G>A (p.P11=) - AFF2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1041+56459A>G r.(=) p.(=) - benign g.147800748A>G g.148719227T>G AFF2(NM_001170628.1):c.44A>G (p.K15R) - AFF2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.1086+114T>C r.(=) p.(=) - VUS g.147891558T>C g.148810034T>C - - AFF2_000055 - - - - Germline - - - - - Yu Sun
./. - c.1086+114T>C r.(=) p.(=) - VUS g.147891558T>C g.148810034T>C - - AFF2_000055 - - - - Germline - - - - - Yu Sun
./. - c.1087-108_1087-104del r.(=) p.(=) - VUS g.147919063_147919067del g.148837539_148837543del - - AFF2_000058 - - - - Germline - - - - - Yu Sun
./. - c.1087-108_1087-104del r.(=) p.(=) - VUS g.147919063_147919067del g.148837539_148837543del - - AFF2_000058 - - - - Germline - - - - - Yu Sun
./. - c.1087-97_1087-93del r.(=) p.(=) - VUS g.147919074_147919078del g.148837550_148837554del - - AFF2_000028 - - - - Germline - - - - - Yu Sun
./. - c.1087-97_1087-93del r.(=) p.(=) - VUS g.147919074_147919078del g.148837550_148837554del - - AFF2_000028 - - - - Germline - - - - - Yu Sun
-?/. - c.1097A>G r.(?) p.(His366Arg) - likely benign g.147919181A>G - AFF2(NM_002025.3):c.1097A>G (p.H366R) - AFF2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1121C>A r.(?) p.(Ser374Tyr) - benign g.147919205C>A g.148837681C>A AFF2(NM_001169123.1):c.1109C>A (p.(Ser370Tyr)), AFF2(NM_002025.3):c.1121C>A (p.S374Y) - AFF2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1121C>A r.(?) p.(Ser374Tyr) - likely benign g.147919205C>A g.148837681C>A AFF2(NM_001169123.1):c.1109C>A (p.(Ser370Tyr)), AFF2(NM_002025.3):c.1121C>A (p.S374Y) - AFF2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1162A>G r.(?) p.(Ile388Val) - likely benign g.147919246A>G g.148837722A>G AFF2(NM_001169123.1):c.1150A>G (p.(Ile384Val)) - AFF2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.1173+278A>G r.(=) p.(=) - VUS g.147919535A>G g.148838011A>G - - AFF2_000030 - - - - Germline - - - - - Yu Sun
./. - c.1173+278A>G r.(=) p.(=) - VUS g.147919535A>G g.148838011A>G - - AFF2_000030 - - - - Germline - - - - - Yu Sun
./. - c.1262+396G>C r.(=) p.(=) - VUS g.147925353G>C g.148843829G>C - - AFF2_000033 - - - - Germline - - - - - Yu Sun
./. - c.1263-372C>A r.(=) p.(=) - VUS g.147967047C>A g.148885517C>A - - AFF2_000034 - - - - Germline - - - - - Yu Sun
-?/. - c.1322C>T r.(?) p.(Thr441Ile) - likely benign g.147967478C>T g.148885948C>T AFF2(NM_002025.3):c.1322C>T (p.T441I) - AFF2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.1359+202G>A r.(=) p.(=) - VUS g.147967717G>A g.148886187G>A - - AFF2_000035 - - - - Germline - - - - - Yu Sun
./. - c.1359+202G>A r.(=) p.(=) - VUS g.147967717G>A g.148886187G>A - - AFF2_000035 - - - - Germline - - - - - Yu Sun
?/. - c.1444G>A r.(?) p.(Gly482Arg) - VUS g.148035156G>A g.148953626G>A AFF2(NM_001169122.1):c.1345G>A (p.(Gly449Arg)) - AFF2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.1444G>A r.(?) p.(Gly482Arg) - likely pathogenic g.148035156G>A g.148953626G>A AFF2(NM_001169122.1):c.1345G>A (p.(Gly449Arg)) - AFF2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1488G>A r.(=) p.(=) - likely benign g.148035200G>A g.148953670G>A S496S - AFF2_000090 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - 0 - Lucy Raymond
./. - c.1558-190A>G r.(=) p.(=) - VUS g.148036943A>G g.148955413A>G - - AFF2_000038 - - - - Germline - - - - - Yu Sun
./. - c.1558-190A>G r.(=) p.(=) - VUS g.148036943A>G g.148955413A>G - - AFF2_000038 - - - - Germline - - - - - Yu Sun
./. - c.1558-78G>C r.(=) p.(=) - VUS g.148037055G>C g.148955525G>C - - AFF2_000041 - - - - Germline - - - - - Yu Sun
./. - c.1558-78G>C r.(=) p.(=) - VUS g.148037055G>C g.148955525G>C - - AFF2_000041 - - - - Germline - - - - - Yu Sun
-?/. - c.1558C>T r.(?) p.(Pro520Ser) - likely benign g.148037133C>T g.148955603C>T - - AFF2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1587A>G r.(?) p.(Gln529=) - likely benign g.148037162A>G g.148955632A>G AFF2(NM_002025.3):c.1587A>G (p.Q529=) - AFF2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1786G>A r.(?) p.(Ala596Thr) - VUS g.148037361G>A g.148955831G>A AFF2(NM_002025.3):c.1786G>A (p.A596T) - AFF2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1788C>A r.(?) p.(Ala596=) - benign g.148037363C>A g.148955833C>A AFF2(NM_002025.3):c.1788C>A (p.A596=) - AFF2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1834C>G r.(?) p.(His612Asp) - VUS g.148037409C>G g.148955879C>G - - AFF2_000091 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1858A>G r.(?) p.(Thr620Ala) - likely benign g.148037433A>G - AFF2(NM_002025.3):c.1858A>G (p.T620A) - AFF2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2065C>T r.(?) p.(Pro689Ser) - likely benign g.148037640C>T g.148956110C>T AFF2(NM_001169122.1):c.1966C>T (p.(Pro656Ser)), AFF2(NM_002025.3):c.2065C>T (p.P689S) - AFF2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2065C>T r.(?) p.(Pro689Ser) - likely benign g.148037640C>T g.148956110C>T AFF2(NM_001169122.1):c.1966C>T (p.(Pro656Ser)), AFF2(NM_002025.3):c.2065C>T (p.P689S) - AFF2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2108T>C r.(?) p.(Ile703Thr) - VUS g.148037683T>C g.148956153T>C - - AFF2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2204C>T r.(?) p.(Pro735Leu) - VUS g.148037779C>T g.148956249C>T AFF2(NM_002025.3):c.2204C>T (p.(Pro735Leu)) - AFF2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2247C>G r.(?) p.(Ile749Met) - likely benign g.148037822C>G g.148956292C>G AFF2(NM_002025.3):c.2247C>G (p.I749M) - AFF2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2351T>G r.(?) p.(Met784Arg) - VUS g.148037926T>G g.148956396T>G - - AFF2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2424C>T r.(?) p.(Asp808=) - likely benign g.148037999C>T - AFF2(NM_002025.3):c.2424C>T (p.D808=) - AFF2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2467C>G r.(?) p.(Pro823Ala) - likely benign g.148038042C>G g.148956512C>G AFF2(NM_002025.3):c.2467C>G (p.P823A) - AFF2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2472C>T r.(?) p.(Ala824=) - likely benign g.148038047C>T - AFF2(NM_002025.3):c.2472C>T (p.A824=) - AFF2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2481C>A r.(?) p.(Asp827Glu) - VUS g.148038056C>A g.148956526C>A - - AFF2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. - c.2509C>T r.(2509c>u) p.(Arg837Cys) - pathogenic g.148038084C>T g.148956554C>T - - AFF2_000087 - PubMed: Du 2018 - - Germline - - - 0 - Fei Li
?/. - c.2527G>A r.(?) p.(Ala843Thr) - VUS g.148038102G>A - AFF2(NM_001169122.1):c.2428G>A (p.(Ala810Thr)) - AFF2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2558G>A r.(?) p.(Arg853His) - likely benign g.148038133G>A g.148956603G>A AFF2(NM_001169122.1):c.2459G>A (p.(Arg820His)) - AFF2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
./. - c.2568+178A>G r.(=) p.(=) - VUS g.148038321A>G g.148956791A>G - - AFF2_000044 - - - - Germline - - - - - Yu Sun
./. - c.2568+178A>G r.(=) p.(=) - VUS g.148038321A>G g.148956791A>G - - AFF2_000044 - - - - Germline - - - - - Yu Sun
-?/. - c.2572A>G r.(?) p.(Ile858Val) - likely benign g.148039870A>G g.148958340A>G AFF2(NM_002025.3):c.2572A>G (p.I858V) - AFF2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2656C>G r.(?) p.(Pro886Ala) - benign g.148039954C>G g.148958424C>G AFF2(NM_001169122.1):c.2557C>G (p.(Pro853Ala)), AFF2(NM_002025.3):c.2656C>G (p.P886A) - AFF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2656C>G r.(?) p.(Pro886Ala) - VUS g.148039954C>G g.148958424C>G - - AFF2_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.2656C>G r.(?) p.(Pro886Ala) - likely benign g.148039954C>G g.148958424C>G AFF2(NM_001169122.1):c.2557C>G (p.(Pro853Ala)), AFF2(NM_002025.3):c.2656C>G (p.P886A) - AFF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2656C>G r.(?) p.(Pro886Ala) - likely benign g.148039954C>G g.148958424C>G AFF2(NM_001169122.1):c.2557C>G (p.(Pro853Ala)), AFF2(NM_002025.3):c.2656C>G (p.P886A) - AFF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2776C>T r.(?) p.(Arg926Cys) - likely benign g.148044330C>T g.148962800C>T AFF2(NM_002025.3):c.2776C>T (p.R926C) - AFF2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2780G>A r.(?) p.(Arg927His) - benign g.148044334G>A g.148962804G>A AFF2(NM_001169122.1):c.2681G>A (p.(Arg894His)), AFF2(NM_002025.3):c.2780G>A (p.R927H) - AFF2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2780G>A r.(?) p.(Arg927His) - VUS g.148044334G>A g.148962804G>A AFF2(NM_001169122.1):c.2681G>A (p.(Arg894His)), AFF2(NM_002025.3):c.2780G>A (p.R927H) - AFF2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2780G>A r.(?) p.(Arg927His) - likely benign g.148044334G>A g.148962804G>A AFF2(NM_001169122.1):c.2681G>A (p.(Arg894His)), AFF2(NM_002025.3):c.2780G>A (p.R927H) - AFF2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2780G>A r.(?) p.(Arg927His) - likely benign g.148044334G>A g.148962804G>A AFF2(NM_001169122.1):c.2681G>A (p.(Arg894His)), AFF2(NM_002025.3):c.2780G>A (p.R927H) - AFF2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2906C>T r.(?) p.(Ser969Leu) - VUS g.148044460C>T g.148962930C>T - - AFF2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2908G>C r.(?) p.(Val970Leu) - likely benign g.148044462G>C g.148962932G>C AFF2(NM_002025.3):c.2908G>C (p.V970L) - AFF2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2913+4A>C r.spl? p.? - VUS g.148044471A>C - AFF2(NM_001169123.1):c.2883+4A>C (p.?) - AFF2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.2914-113_2914-112del r.(=) p.(=) - VUS g.148048207_148048208del g.148966677_148966678del - - AFF2_000061 - - - - Germline - - - - - Yu Sun
-?/. - c.3088A>C r.(?) p.(Ile1030Leu) - likely benign g.148048494A>C g.148966964A>C AFF2(NM_002025.3):c.3088A>C (p.I1030L) - AFF2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3229C>T r.(?) p.(Gln1077*) - likely pathogenic g.148049184C>T g.148967654C>T - - AFF2_000120 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+?/. - c.3262G>A r.(?) p.(Ala1088Thr) - likely pathogenic g.148049217G>A g.148967687G>A - - AFF2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. - c.3267+42T>G r.(=) p.(=) - VUS g.148049264T>G g.148967734T>G - - AFF2_000089 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
./. - c.3404+7A>G r.(=) p.(=) - VUS g.148055144A>G g.148973614A>G - - AFF2_000088 - - - - Germline - - - - - Yu Sun
./. - c.3404+7A>G r.(=) p.(=) - VUS g.148055144A>G g.148973614A>G - - AFF2_000088 - - - - Germline - - - - - Yu Sun
-/. - c.3404+7A>G r.(=) p.(=) - benign g.148055144A>G g.148973614A>G AFF2(NM_002025.3):c.3404+7A>G - AFF2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. - c.3404+241G>A r.(=) p.(=) - VUS g.148055378G>A g.148973848G>A - - AFF2_000004 - - - - Germline - - - - - Yu Sun
./. - c.3404+241G>A r.(=) p.(=) - VUS g.148055378G>A g.148973848G>A - - AFF2_000004 - - - - Germline - - - - - Yu Sun
./. - c.3404+293G>A r.(=) p.(=) - VUS g.148055430G>A g.148973900G>A - - AFF2_000005 - - - - Germline - - - - - Yu Sun
./. - c.3404+293G>A r.(=) p.(=) - VUS g.148055430G>A g.148973900G>A - - AFF2_000005 - - - - Germline - - - - - Yu Sun
-?/. - c.3543C>T r.(?) p.(Tyr1181=) - likely benign g.148059958C>T g.148978428C>T AFF2(NM_002025.3):c.3543C>T (p.Y1181=) - AFF2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3552A>G r.(?) p.(Ser1184=) - likely benign g.148059967A>G g.148978437A>G AFF2(NM_002025.3):c.3552A>G (p.S1184=) - AFF2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. - c.3623+57G>A r.(=) p.(=) - VUS g.148062377G>A g.148980847G>A - - AFF2_000006 - - - - Germline - - - - - Yu Sun
./. - c.3623+57G>A r.(=) p.(=) - VUS g.148062377G>A g.148980847G>A - - AFF2_000006 - - - - Germline - - - - - Yu Sun
./. - c.3623+178C>G r.(=) p.(=) - VUS g.148062498C>G g.148980968C>G - - AFF2_000007 - - - - Germline - - - - - Yu Sun
./. - c.3623+178C>G r.(=) p.(=) - VUS g.148062498C>G g.148980968C>G - - AFF2_000007 - - - - Germline - - - - - Yu Sun
-/. - c.3693C>T r.(?) p.(Gly1231=) - benign g.148068966C>T g.148987436C>T AFF2(NM_002025.3):c.3693C>T (p.G1231=) - AFF2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.3738C>T r.(?) p.(His1246=) - likely benign g.148069011C>T g.148987481C>T AFF2(NM_002025.3):c.3738C>T (p.H1246=) - AFF2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.*6777A>C r.(=) p.(=) - VUS g.148079639A>C g.148998109A>C - - AFF2_000008 - - - - Germline - - - - - Yu Sun
./. - c.*6777A>C r.(=) p.(=) - VUS g.148079639A>C g.148998109A>C - - AFF2_000008 - - - - Germline - - - - - Yu Sun
./. - c.*6878A>C r.(=) p.(=) - VUS g.148079740A>C g.148998210A>C - - AFF2_000009 - - - - Germline - - - - - Yu Sun
./. - c.*6878A>C r.(=) p.(=) - VUS g.148079740A>C g.148998210A>C - - AFF2_000009 - - - - Germline - - - - - Yu Sun
./. - c.*7015T>C r.(=) p.(=) - VUS g.148079877T>C g.148998347T>C - - AFF2_000010 - - - - Germline - - - - - Yu Sun
./. - c.*7015T>C r.(=) p.(=) - VUS g.148079877T>C g.148998347T>C - - AFF2_000010 - - - - Germline - - - - - Yu Sun
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