All variants affecting transcripts

1671 entries on 17 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Effect     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
ABCA1 NM_005502.3 9 Unknown g.104858586C>T R219K Polin Haghvirdizadeh et al. (2015), dbSNP, (OMIM 0024), ClinVar ABCA1_000001 - 55/164 - Nuur Athirah Binti Mohd Daud +/. - c.656G>A - r.(?) p.(Arg219Lys) - -
ABCA1 NM_005502.3 9 Both (homozygous) g.104858586C>T R219K Polin Haghvirdizadeh et al. (2015), dbSNP, (OMIM 0024), ClinVar ABCA1_000001 - 15/164 - Nuur Athirah Binti Mohd Daud +/. - c.656G>A - r.(?) p.(Arg219Lys) - -
ABCA1 NM_005502.3 9 Unknown g.104928169G>A C69T Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000002 - 48/164 - Nuur Athirah Binti Mohd Daud +/. - c.-327C>T - r.(=) p.(=) - -
ABCA1 NM_005502.3 9 Both (homozygous) g.104928169G>A C69T Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000002 - 51/164 - Nuur Athirah Binti Mohd Daud +/. - c.-327C>T - r.(=) p.(=) - -
ABCA1 NM_005502.3 9 Unknown g.104858554G>A R230C Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000003 - 72/164 - Nuur Athirah Binti Mohd Daud +/. - c.688C>T - r.(?) p.(Arg230Cys) - -
ABCA1 NM_005502.3 9 Both (homozygous) g.104858554G>A R230C Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000003 - 32/164 - Nuur Athirah Binti Mohd Daud +/. - c.688C>T - r.(?) p.(Arg230Cys) - -
ABCA1 NM_005502.3 9 Unknown g.104858586C>T - Polin Haghvirdizadeh et al.(2015) ABCA1_000001 - - - Nur Aisyah Athirah +/. - c.656G>A - r.(?) p.(Arg219Lys) - -
ABCA1 NM_005502.3 9 Unknown g.104928169G>A - Polin Haghvirdizadeh et al.(2015) ABCA1_000002 - - - Nur Aisyah Athirah +/. - c.-327C>T - r.(=) p.(=) - -
ABCA1 NM_005502.3 9 Unknown g.104858554G>A - Polin Haghvirdizadeh et al.(2015) ABCA1_000003 rs9282541 - - Nur Aisyah Athirah +/. - c.688C>T - r.(?) p.(Arg230Cys) - Conflicting interpretations of pathogenicity
ABCB1 NM_000927.4 7 Unknown g.87509329A>G - Haerian BS et al.(2011) ABCB1_000001 - - - MyHVP ./. 27 c.3435T>C - r.(=) p.(=) - -
ABCB1 NM_000927.4 7 Unknown g.87531302A>C - Haerian BS et al.(2011) ABCB1_000002 - - - MyHVP ./. 21 c.2677T>G - r.(?) p.(Ser893Ala) - -
ABCB1 NM_000927.4 7 Unknown g.87550285A>G - Haerian BS et al.(2011) ABCB1_000003 - - - MyHVP ./. 12 c.1236T>C - r.(=) p.(=) - -
ADRB2 NM_000024.5 5 Unknown g.148826877G>A - M Komara et al. (2014), dbSNP, ClinVar ADRB2_000002 - 112/160 - Nuur Athirah Binti Mohd Daud +/. - c.46G>A - r.(?) p.(Gly16Arg) - -
ADRB2 NM_000024.5 5 Both (homozygous) g.148826877G>A - M Komara et al. (2014), dbSNP, ClinVar ADRB2_000002 - 12/160 - Nuur Athirah Binti Mohd Daud +/. - c.46G>A - r.(?) p.(Gly16Arg) - -
ADRB2 NM_000024.5 5 Unknown g.148826910G>C - M Komara et al. (2014), dbSNP, (OMIM 0002), ClinVar ADRB2_000001 - 80/160 - Nuur Athirah Binti Mohd Daud +/. - c.79G>C - r.(?) p.(Glu27Gln) - -
ADRB2 NM_000024.5 5 Both (homozygous) g.148826910G>C - M Komara et al. (2014), dbSNP, (OMIM 0002), ClinVar ADRB2_000001 - 3/70 - Nuur Athirah Binti Mohd Daud +/. - c.79G>C - r.(?) p.(Glu27Gln) - -
ADRB2 NM_000024.5 5 Unknown g.148826910G>C - Yamunah Devi Apalasamy et al. (2015), dbSNP, (OMIM 0002), ClinVar ADRB2_000001 - 26/172 - Nuur Athirah Binti Mohd Daud +/. - c.79G>C - r.(?) p.(Glu27Gln) - -
ADRB2 NM_000024.5 5 Unknown g.148826877G>A - A E Atia et al. (2012), dbSNP, (OMIM 0001), ClinVar ADRB2_000002 - 23/50 - Nuur Athirah Binti Mohd Daud +/. - c.46G>A - r.(?) p.(Gly16Arg) - -
ADRB2 NM_000024.5 5 Both (homozygous) g.148826877G>A - A E Atia et al. (2012), dbSNP, (OMIM 0001), ClinVar ADRB2_000002 - 13/50 - Nuur Athirah Binti Mohd Daud +/. - c.46G>A - r.(?) p.(Gly16Arg) - -
ADRB2 NM_000024.5 5 Unknown g.148826910G>C Gln27Glu A E Atia et al. (2012), dbSNP, (OMIM 0002), ClinVar ADRB2_000001 - 5/50 - Nuur Athirah Binti Mohd Daud +/. - c.79G>C - r.(?) p.(Glu27Gln) - -
ADRB2 NM_000024.5 5 Both (homozygous) g.148826910G>C Gln27Glu A E Atia et al. (2012), dbSNP, (OMIM 0002), ClinVar ADRB2_000001 - 44/50 - Nuur Athirah Binti Mohd Daud +/. - c.79G>C - r.(?) p.(Glu27Gln) - -
ADRB2 NM_000024.5 5 Unknown g.148826877G>A - Soma Roy Mitra et al. (2019), dbSNP, (OMIM 0001), ClinVar ADRB2_000002 - 41/79 - Nuur Athirah Binti Mohd Daud +/. - c.46G>A - r.(?) p.(Gly16Arg) - -
ADRB2 NM_000024.5 5 Unknown g.148826877G>A - Soma Roy Mitra et al. (2019), dbSNP, (OMIM 0001), ClinVar ADRB2_000002 - 19/79 - Nuur Athirah Binti Mohd Daud +/. - c.46G>A - r.(?) p.(Gly16Arg) - -
AGER NM_001136.4 6 Unknown g.32183666C>T G82S Foo Nian Wong et al. (2016), dbSNP AGER_000001 - 39/102 non-diabetic (ND-CKD) Nuur Athirah Binti Mohd Daud +?/. - c.244G>A - r.(?) p.(Gly82Ser) - -
AGER NM_001136.4 6 Unknown g.32183666C>T G82S Foo Nian Wong et al. (2016), dbSNP AGER_000001 - 51/204 diabetic (D-CKD) Nuur Athirah Binti Mohd Daud +/. - c.244G>A - r.(?) p.(Gly82Ser) - -
AGER NM_001136.4 6 Unknown g.32184610A>T −374T/A Foo Nian Wong et al. (2016), dbSNP AGER_000002 - 22/102 non-diabetic (ND-CKD) Nuur Athirah Binti Mohd Daud +?/. - c.-388T>A - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32184610A>T −374T/A Foo Nian Wong et al. (2016), dbSNP AGER_000002 - 48/204 diabetic (D-CKD) Nuur Athirah Binti Mohd Daud +/. - c.-388T>A - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32184665A>G −429T/C Foo Nian Wong et al. (2016), dbSNP AGER_000003 - 16/102 non-diabetic (ND-CKD) Nuur Athirah Binti Mohd Daud +?/. - c.-443T>C - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32184665A>G −429T/C Foo Nian Wong et al. (2016), dbSNP AGER_000003 - 46/204 diabetic (D-CKD) Nuur Athirah Binti Mohd Daud +/. - c.-443T>C - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32182519C>A 1704G/T Foo Nian Wong et al. (2016), dbSNP AGER_000004 - 42/102 non-diabetic (ND-CKD) Nuur Athirah Binti Mohd Daud +?/. - c.822+49G>T - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32182519C>A 1704G/T Foo Nian Wong et al. (2016), dbSNP AGER_000004 - 70/204 diabetic (D-CKD) Nuur Athirah Binti Mohd Daud +/. - c.822+49G>T - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32182039T>C 2184A/G Foo Nian Wong et al. (2016), dbSNP AGER_000005 - 16/102 non-diabetic (ND-CKD) Nuur Athirah Binti Mohd Daud +?/. - c.964+208A>G - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32182039T>C 2184A/G Foo Nian Wong et al. (2016), dbSNP AGER_000005 - 46/204 diabetic (D-CKD) Nuur Athirah Binti Mohd Daud +/. - c.964+208A>G - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32180113C>T 2245G/A Zhi Xiang Ng et al. (2012) AGER_000006 - 28/171 DNR (diabetic non-retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.*1030G>A - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32180113C>T 2245G/A Zhi Xiang Ng et al. (2012) AGER_000006 - 52/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.*1030G>A - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32184665A>G −429T/C Zhi Xiang Ng et al. (2012) AGER_000003 - 47/171 DNR (diabetic non-retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.-443T>C - r.(=) p.(=) - -
AGER NM_001136.4 6 Both (homozygous) g.32184665A>G -429T/C Zhi Xiang Ng et al. (2012) AGER_000003 - 4/171 DNR (diabetic non-retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.-443T>C - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32184665A>G -429T/C Zhi Xiang Ng et al. (2012) AGER_000003 - 37/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.-443T>C - r.(=) p.(=) - -
AGER NM_001136.4 6 Both (homozygous) g.32184665A>G -429T/C Zhi Xiang Ng et al. (2012) AGER_000003 - 2/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.-443T>C - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32184610A>T −374T/A Zhi Xiang Ng et al. (2012) AGER_000002 - 56/171 DNR (diabetic non-retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.-388T>A - r.(=) p.(=) - -
AGER NM_001136.4 6 Both (homozygous) g.32184610A>T -374T/A Zhi Xiang Ng et al. (2012) AGER_000002 - 2/171 DNR (diabetic non-retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.-388T>A - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32184610A>T -374T/A Zhi Xiang Ng et al. (2012) AGER_000002 - 54/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.-388T>A - r.(=) p.(=) - -
AGER NM_001136.4 6 Both (homozygous) g.32184610A>T -374T/A Zhi Xiang Ng et al. (2012) AGER_000002 - 7/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.-388T>A - r.(=) p.(=) - -
AGL NM_000642.2 1 Unknown g.99884704G>A - Ili Syazwana Abdullah et al. (2019) AGL_000001 - 6/14 - Nuur Athirah Binti Mohd Daud +/. 21 c.2681+1G>A - r.spl? p.? - -
AGL NM_000642.2 1 Unknown g.99891321_99891322delAA - Ili Syazwana Abdullah et al. (2019) AGL_000002 - 1/14 - Nuur Athirah Binti Mohd Daud +/. 23 c.2914_2915delAA - r.(?) p.(Asn972Profs*11) - -
AGL NM_000642.2 1 Unknown g.99921542G>A - Ili Syazwana Abdullah et al. (2019) AGL_000003 - 2/14 - Nuur Athirah Binti Mohd Daud +/. 35 c.4490G>A - r.(?) p.(Trp1497*) - -
AGL NM_000642.2 1 Unknown g.99910825_99910826delAG - Ili Syazwana Abdullah et al. (2019) AGL_000004 - 3/14 - Nuur Athirah Binti Mohd Daud +/. 29 c.3814_3815delAG - r.(?) p.(Gly1273Asnfs*18) - -
AGL NM_000642.2 1 Unknown g.99861519C>T - Ili Syazwana Abdullah et al. (2019) AGL_000005 - 2/14 - Nuur Athirah Binti Mohd Daud +/. 4 c.99C>T - r.(=) p.(=) - -
AGL NM_000642.2 1 Unknown g.99876598G>T - Ili Syazwana Abdullah et al. (2019) AGL_000006 - 1/2 - Nuur Athirah Binti Mohd Daud +/. 12i c.1423+1G>T - r.spl? p.? - -
AGL NM_000642.2 1 Unknown g.99884704G>A - Ili Syazwana Abdullah et al. (2019) AGL_000001 - 1/2 - Nuur Athirah Binti Mohd Daud +/. 21 c.2681+1G>A - r.spl? p.? - -
AGL NM_000642.2 1 Unknown g.99916483T>G - Ili Syazwana Abdullah et al. (2019) AGL_000007 - 1/2 - Nuur Athirah Binti Mohd Daud +/. 33 c.4333T>G - r.(?) p.(Tyr1445Asp) - -
AGL NM_000642.2 1 Unknown g.99921583_99921586delTGTC - Ili Syazwana Abdullah et al. (2019) AGL_000008 - 1/2 - Nuur Athirah Binti Mohd Daud +/. 35 c.4531_4534delTGTC - r.(?) p.(Cys1511Leufs*35) - -
AGL NM_000642.2 1 Unknown g.99916483T>G - Ili Syazwana Abdullah et al. (2019) AGL_000007 - 1/2 - Nuur Athirah Binti Mohd Daud +/. 33 c.4333T>G - r.(?) p.(Tyr1445Asp) - -
AGL NM_000642.2 1 Unknown g.99921583_99921586delTGTC - Ili Syazwana Abdullah et al. (2019) AGL_000008 - 1/2 - Nuur Athirah Binti Mohd Daud +/. 35 c.4531_4534delTGTC - r.(?) p.(Cys1511Leufs*35) - -
AGL NM_000642.2 1 Unknown g.99880679C>T - Ili Syazwana Abdullah et al. (2019) AGL_000009 - 2 - Nuur Athirah Binti Mohd Daud +/. 15 c.1783C>T - r.(?) p.(Arg595*) - -
AGT NM_000029.3 1 Unknown g.230710048A>G M235T Dzuzaini M Ghazali et al. (2008), dbSNP, (OMIM 18068) AGT_000001 - 66/200 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Both (homozygous) g.230710048A>G M235T Dzuzaini M Ghazali et al. (2008), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 127/200 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #1 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 28/97 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #2 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 14/97 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #1 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 36/97 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Unknown g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 26/97 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #1 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 10/56 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #2 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 10/56 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #1 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 28/56 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #2 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 20/56 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #1 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 1/35 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #2 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 3/35 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #1 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 9/35 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
AGT NM_000029.3 1 Parent #2 g.230710048A>G M235T Yee-How Say et al. (2005), dbSNP, (OMIM 0001), ClinVar AGT_000001 - 17/35 - Nuur Athirah Binti Mohd Daud +/. - c.803T>C - r.(?) p.(Met268Thr) - -
APC NM_000038.5 5 Unknown g.112841589C>G - N.A. Abdul Murad et al. (2012) APC_000002 - 76 - MyHVP ./. 11i_15i c.5995C>G - r.(?) p.(Pro1999Ala) - -
APC NM_001127511.2 5 Unknown g.112780868C>G - N.A. Abdul Murad et al. (2012) APC_000003 - 76 - MyHVP ./. 5 c.640C>G - r.(?) p.(Leu214Val) - -
APC NM_000038.5 5 Unknown g.112841553A>G - N.A. Abdul Murad et al. (2012) APC_000004 - 76 - MyHVP ./. 11i_15i c.5959A>G - r.(?) p.(Ile1987Val) - -
APC NM_000038.5 5 Both (homozygous) g.112840073G>A 112175770G > A Nurul-Syakima Ab Mutalib et al. (2014) APC_000005 - 3/9 - Nuur Athirah Binti Mohd Daud +?/. - c.4479G>A 112175770G > A r.(=) p.(=) - -
APC NM_000038.5 5 Unknown g.112840073G>A 112175770G > A Nurul-Syakima Ab Mutalib et al. (2014) APC_000005 - 5/9 - Nuur Athirah Binti Mohd Daud +?/. - c.4479G>A 112175770G > A r.(=) p.(=) - -
APC NM_000038.5 5 Unknown g.112839522_112839523del c.3928-3929delAA Lu Ping Tan et al. (2007) APC_000006 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. 18 c.3928_3929del c.3928-3929delAA r.(?) p.(Lys1310Aspfs*4) - -
APC NM_000038.5 5 Unknown g.112839879C>T Q1429X Lu Ping Tan et al. (2007) APC_000007 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. - c.4285C>T Q1429X r.(?) p.(Gln1429*) - -
APC NM_000038.5 5 Unknown g.112815507C>T R283X Lu Ping Tan et al. (2007) APC_000008 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. 11 c.847C>T R283X r.(?) p.(Arg283*) - -
APC NM_000038.5 5 Unknown g.112839521_112839525del 3927-3931delAAAGA , codon 1309 Lu Ping Tan et al. (2007) APC_000009 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. 18 c.3927_3931del 3927-3931delAAAGA , codon 1309 r.(?) p.(Glu1309Aspfs*4) - -
APC NM_000038.5 5 Unknown g.112839793C>A S1400X Lu Ping Tan et al. (2007) APC_000010 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. 18 c.4199C>A S1400X r.(?) p.(Ser1400*) - -
APC NM_000038.5 5 Unknown g.112839791_112839801del 4197-4207delTTCGATTGCCA Lu Ping Tan et al. (2007) APC_000011 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. - c.4197_4207del 4197-4207delTTCGATTGCCA r.(?) p.(Ser1400Leufs*5) - -
APC NM_000038.5 5 Unknown g.112839942C>T 1450X Lu Ping Tan et al. (2007) APC_000012 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. 18 c.4348C>T 1450X r.(?) p.(Arg1450*) - -
APC NM_000038.5 5 Unknown g.112839483_112839484del c.3889-3890delGA Lu Ping Tan et al. (2007) APC_000013 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. - c.3889_3890del c.3889-3890delGA r.(?) p.(Asp1297Phefs*3) - -
APC NM_000038.5 5 Unknown g.112839978_112839979del 4384-4385delGA Lu Ping Tan et al. (2007) APC_000014 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. 18 c.4384_4385del 4384-4385delGA r.(?) p.(Lys1462Glufs*6) - -
APC NM_000038.5 5 Unknown g.112837578_112837579del 1984-1985delCT Lu Ping Tan et al. (2007) APC_000015 - 1/16 - Nuur Athirah Binti Mohd Daud -/. - c.1984_1985del 1984-1985delCT r.(?) p.(Leu662Thrfs*11) - -
APC NM_000038.5 5 Unknown g.112839814_112839815insAG - Lu Ping Tan et al. (2007) APC_000016 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. - c.4220_4221insAG - r.(?) p.(Ser1407Argfs*9) - -
APC NM_000038.5 5 Unknown g.112839776_112839779delTAGT - Lu Ping Tan et al. (2007) APC_000017 - 2/16 - Nuur Athirah Binti Mohd Daud ?/. - c.4182_4185delTAGT - r.(?) p.(Ser1395Leufs*19) - -
APC NM_000038.5 5 Unknown g.112839522_112839523del 3928-3929delAA Lu Ping Tan et al. (2007) APC_000006 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. - c.3928_3929del 3928-3929delAA r.(?) p.(Lys1310Aspfs*4) - -
APC NM_000038.5 5 Unknown g.112839774_112839777delGATA 4180-4183delGATA , codon 1394 Lu Ping Tan et al. (2007) APC_000018 - 1/16 - Nuur Athirah Binti Mohd Daud ?/. - c.4180_4183delGATA 4180-4183delGATA , codon 1394 r.(?) p.(Asp1394Valfs*20) - -
APC NM_000038.5 5 Unknown g.112837928_112837931del N778fs Shafina-Nadiawati Abdul et al. (2017), dbSNP APC_000019 - 1/9 - Nuur Athirah Binti Mohd Daud +/. 16 c.2334_2337del N778fs r.(?) p.(Asn778Lysfs*41) - -
APC NM_000038.5 5 Unknown g.112838007C>T R805* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000020 - 1/9 - Nuur Athirah Binti Mohd Daud +/. 16 c.2413C>T R805* r.(?) p.(Arg805*) - -
APC NM_000038.5 5 Unknown g.112838396_112838399del Y935fs Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000021 - 1/9 - Nuur Athirah Binti Mohd Daud +/. 16 c.2802_2805del Y935fs r.(?) p.(Tyr935Ilefs*19) - -
APC NM_000038.5 5 Unknown g.112839726C>T Q1378* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000022 - 2/9 - Nuur Athirah Binti Mohd Daud +/. 16 c.4132C>T Q1378* r.(?) p.(Gln1378*) - -
APC NM_000038.5 5 Unknown g.112840047del A1485fs Shafina-Nadiawati Abdul et al. (2017) APC_000023 - 1/9 - Nuur Athirah Binti Mohd Daud +/. 16 c.4453del A1485fs r.(?) p.(Ala1485Leufs*22) - -
APC NM_000038.5 5 Unknown g.112815507C>T R283∗ Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000008 - 1/4 - Nuur Athirah Binti Mohd Daud +/. 9 c.847C>T R283∗ r.(?) p.(Arg283*) - -
APC NM_000038.5 5 Unknown g.112838733G>T E1057* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000024 - 1/4 - Nuur Athirah Binti Mohd Daud +/. 16 c.3139G>T E1057* r.(?) p.(Glu1047*) - -
APC NM_000038.5 5 Unknown g.112839729G>T E1361* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000025 - 2/4 - Nuur Athirah Binti Mohd Daud +/. 16 c.4135G>T E1361* r.(?) p.(Glu1379*) - -
APOB NM_000384.2 2 Unknown g.21013213C>T - Say-Hean Lye et al. (2013), dbSNP, ClinVar APOB_000001 - 1/8 - Nuur Athirah Binti Mohd Daud +/. 25 c.4163G>A - r.(?) p.(Arg1388His) - -
APOB NM_000384.2 2 Unknown g.21029662G>A - Say-Hean Lye et al. (2013), dbSNP APOB_000002 - 1/8 - Nuur Athirah Binti Mohd Daud +/. 12 c.1594C>T - r.(?) p.(Arg532Trp) - -
APOB NM_000384.2 2 Unknown g.21037332G>A - Say-Hean Lye et al. (2013), dbSNP APOB_000003 - 1/8 - Nuur Athirah Binti Mohd Daud +/. 5i c.538-77C>T - r.(=) p.(=) - -
APOB NM_000384.2 2 Unknown g.21020434C>T - Say-Hean Lye et al. (2013), dbSNP APOB_000004 - 1/8 - Nuur Athirah Binti Mohd Daud +/. 18i c.2817-529G>A - r.(=) p.(=) - -
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