All variants affecting transcripts

3150 entries on 32 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 rs2230806 55/164 - Nuur Athirah Binti Mohd Daud +/. - c.656G>A - r.(?) p.(Arg219Lys) - ClinVar
ABCA1 NM_005502.3 9 Both (homozygous) g.104858586C>T R219K Polin Haghvirdizadeh et al. (2015), dbSNP, (OMIM 0024), ClinVar ABCA1_000001 rs2230806 15/164 - Nuur Athirah Binti Mohd Daud +/. - c.656G>A - r.(?) p.(Arg219Lys) - ClinVar
ABCA1 NM_005502.3 9 Unknown g.104928169G>A C69T Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000002 rs1800977 48/164 - Nuur Athirah Binti Mohd Daud +/. - c.-327C>T - r.(=) p.(=) - ClinVar
ABCA1 NM_005502.3 9 Both (homozygous) g.104928169G>A C69T Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000002 rs1800977 51/164 - Nuur Athirah Binti Mohd Daud +/. - c.-327C>T - r.(=) p.(=) - ClinVar
ABCA1 NM_005502.3 9 Unknown g.104858554G>A R230C Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000003 rs9282541 72/164 - Nuur Athirah Binti Mohd Daud +/. - c.688C>T - r.(?) p.(Arg230Cys) - ClinVar
ABCA1 NM_005502.3 9 Both (homozygous) g.104858554G>A R230C Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000003 rs9282541 32/164 - Nuur Athirah Binti Mohd Daud +/. - c.688C>T - r.(?) p.(Arg230Cys) - ClinVar
ABCA1 NM_005502.3 9 Unknown g.104858586C>T - Polin Haghvirdizadeh et al.(2015)dbSNP ABCA1_000001 rs2230806 - - Nur Aisyah Athirah -/. - c.656G>A - r.(?) p.(Arg219Lys) - ClinVar
ABCA1 NM_005502.3 9 Unknown g.104928169G>A - Polin Haghvirdizadeh et al.(2015)dbSNP ABCA1_000002 rs1800977 - - Nur Aisyah Athirah -/. - c.-327C>T - r.(=) p.(=) - ClinVar
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
ABCA12 NM_173076.2 2 Unknown g.214997750A>T - Sanae Numata et al.(2015) ABCA12_000001 rs1169776576 1/17 - Nur Aisyah Athirah ?/. - c.3239T>A - r.(?) p.(Phe1080Tyr) - -
ABCA12 NM_015657.3 2 Unknown g.214997750A>T - Sanae Numata et al.(2015) ABCA12_000001 rs1169776576 1/17 - Nur Aisyah Athirah +/. - c.2285T>A - r.(?) p.(Phe762Tyr) - -
ABCA12 NR_103740.1 2 Unknown g.214997750A>T - Sanae Numata et al.(2015) ABCA12_000001 rs1169776576 1/17 - Nur Aisyah Athirah ?/. - n.3539T>A - r.(?) - - -
ABCA12 NM_173076.2 2 Unknown g.215045850G>A - Sanae Numata et al.(2015) ABCA12_000002 rs11891778 1/17 - Nur Aisyah Athirah +/. - c.859C>T - r.(?) p.(Arg287*) - Pathogenic
ABCA12 NM_173076.2 2 Unknown g.215000799C>T - Sanae Numata et al.(2015) ABCA12_000003 rs1064797003 1/17 - Nur Aisyah Athirah +/. - c.3085G>A - r.(?) p.(Glu1029Lys) - -
ABCA12 NM_173076.2 2 Unknown g.214991032C>T - Sanae Numata et al.(2015) ABCA12_000004 - 1/17 - Nur Aisyah Athirah +/. - c.3295-1G>A - r.spl? p.? - -
ABCB1 NM_000927.4 7 Unknown g.87509329A>G - Haerian BS et al.(2011)dbSNP ABCB1_000001 rs1045642 - - MyHVP ?/. 27 c.3435T>C - r.(=) p.(=) - ClinVar
ABCB1 NM_000927.4 7 Unknown g.87531302A>C - Haerian BS et al.(2011)dbSNP ABCB1_000002 rs2032582 - - MyHVP ?/. 21 c.2677T>G - r.(?) p.(Ser893Ala) - ClinVar
ABCB1 NM_000927.4 7 Unknown g.87550285A>G - Haerian BS et al.(2011)dbSNP ABCB1_000003 rs1128503 - - MyHVP -/. 12 c.1236T>C - r.(=) p.(=) - ClinVar
ABCB1 NM_001348946.2 7 Unknown g.167964T>C - Zalina Zahari et al.(2018) ABCB1_000004 rs1128503 56.6% - Nur Aisyah Athirah +/. 12 c.1236T>C - r.(=) p.(=) - Benign
ABCB1 NM_001348944.2 7 Unknown g.186947T>G - Zalina Zahari et al.(2018) ABCB1_000005 rs2032582 49.7% - Nur Aisyah Athirah +/. 21 c.2677T>G - r.(?) p.(Ser893Ala) - Benign
ABCB1 NM_001348944.2 7 Unknown g.186947T>A - Zalina Zahari et al.(2018) ABCB1_000006 rs2032582 49.7% - Nur Aisyah Athirah +/. 21 c.2677T>A - r.(?) p.(Ser893Thr) - Benign
ABCB1 NM_001348946.2 7 Unknown g.208920T>C - Zalina Zahari et al.(2018) ABCB1_000007 rs1045642 43.4% - Nur Aisyah Athirah +/. 26 c.3435T>C - r.(=) p.(=) - Benign
ABCD1 NM_000033.3 X Unknown g.153729296T>C - Kun-Long Hung et al.(2013) ABCD1_000001 - - - Nur Aisyah Athirah +/. 2 c.965T>C - r.(?) p.(Leu322Pro) - -
ABCD1 NM_000033.3 X Unknown g.153743333C>T - Kun-Long Hung et al.(2013) ABCD1_000002 rs1569541203 - - Nur Aisyah Athirah +/. 9 c.1978C>T - r.(?) p.(Arg660Trp) - Pathogenic
ABCD1 NM_000033.3 X Unknown g.153743503A>G - Kun-Long Hung et al.(2013) ABCD1_000003 - - - Nur Aisyah Athirah +/. 10 c.2006A>G - r.(?) p.(His669Arg) - Pathogenic
ABCD1 NM_000033.3 X Unknown g.153743457C>T - Kun-Long Hung et al.(2013) ABCD1_000004 rs4898368 3/8 - Nur Aisyah Athirah -/. 9i c.1992-32C>T - r.(=) p.(=) - Benign
ABCG8 NM_022437.2 2 Unknown g.43839108G>C - Noor Shafina Mohd Nor et al.(2019) ABCG8_000001 rs11887534 - - Nur Aisyah Athirah +/. 1 c.55G>C - r.(?) p.(Asp19His) - Benign/Likely benign
ABL1 NM_005157.5 9 Unknown g.130872896C>T T315I Marjanu Hikmah Elias et al. (2014), dbSNP, (OMIM 0001), ClinVar ABL1_000002 rs121913459 9/28 - Nuur Athirah Binti Mohd Daud +/. - c.944C>T - r.(?) p.(Thr315Ile) - ClinVar
ABL1 NM_005157.5 9 Unknown g.130862976G>A E255K Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar ABL1_000003 rs121913448 4/28 - Nuur Athirah Binti Mohd Daud +/. - c.763G>A - r.(?) p.(Glu255Lys) - ClinVar
ABL1 NM_005157.5 9 Unknown g.130862962G>A G250E Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar ABL1_000004 rs121913453 2/28 - Nuur Athirah Binti Mohd Daud +/. - c.749G>A - r.(?) p.(Gly250Glu) - ClinVar
ABL1 NM_005157.5 9 Unknown g.130873004T>C M351T Marjanu Hikmah Elias et al. (2014), dbSNP, (OMIM 0006), ClinVar ABL1_000005 rs121913457 2/28 - Nuur Athirah Binti Mohd Daud +/. - c.1052T>C - r.(?) p.(Met351Thr) - ClinVar
ABL1 NM_005157.5 9 Unknown g.130873028T>G F359C Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar ABL1_000006 rs1057519775 2/28 - Nuur Athirah Binti Mohd Daud +/. - c.1076T>G - r.(?) p.(Phe359Cys) - ClinVar
ABL1 NM_005157.5 9 Unknown g.130862970T>C Y253H Marjanu Hikmah Elias et al. (2014), dbSNP, (OMIM 0004), ClinVar ABL1_000007 rs121913461 1/28 - Nuur Athirah Binti Mohd Daud +/. - c.757T>C - r.(?) p.(Tyr253His) - ClinVar
ABL1 NM_005157.5 9 Unknown g.130873016A>G E355G Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar ABL1_000008 rs121913450 1/28 - Nuur Athirah Binti Mohd Daud +/. - c.1064A>G - r.(?) p.(Glu355Gly) - ClinVar
ABL1 NM_005157.5 9 Unknown g.130874969A>G H396R Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar ABL1_000009 rs121913454 1/28 - Nuur Athirah Binti Mohd Daud +/. - c.1187A>G - r.(?) p.(His396Arg) - -
ABL1 NM_005157.5 9 Unknown g.130872133A>G D276G Marjanu Hikmah Elias et al. (2014), dbSNP ABL1_000010 rs121913447 1/28 - Nuur Athirah Binti Mohd Daud +/. - c.827A>G - r.(?) p.(Asp276Gly) - -
ABL1 NM_005157.5 9 Unknown g.130874971G>C A397P Marjanu Hikmah Elias et al. (2014) ABL1_000011 rs137852281 1/28 - Nuur Athirah Binti Mohd Daud +/. - c.1189G>C - r.(?) p.(Ala397Pro) - -
ABL1 NM_005157.5 9 Unknown g.130874941T>A L387M Marjanu Hikmah Elias et al. (2014) ABL1_000012 rs2669875 1/28 - Nuur Athirah Binti Mohd Daud +/. - c.1159T>A - r.(?) p.(Leu387Met) - -
ABL1 NM_005157.5 9 Unknown g.130872896C>T T315I Yuslina Mat Yusoff et al. (2018), dbSNP, (OMIM 0001), ClinVar ABL1_000002 rs121913459 9/15 - Nuur Athirah Binti Mohd Daud +/. - c.944C>T - r.(?) p.(Thr315Ile) - ClinVar
ABL1 NM_005157.5 9 Unknown g.130872896C>T T315I Yuslina Mat Yusoff et al. (2018), dbSNP, (OMIM 0001), ClinVar ABL1_000002 rs121913459 3/15 - Nuur Athirah Binti Mohd Daud +/. - c.944C>T - r.(?) p.(Thr315Ile) - ClinVar
ABL1 NM_005157.5 9 Unknown g.130872896C>T T315I Yuslina Mat Yusoff et al. (2018), dbSNP, (OMIM 0001), ClinVar ABL1_000002 rs121913459 2/15 - Nuur Athirah Binti Mohd Daud +/. - c.944C>T - r.(?) p.(Thr315Ile) - -
ABL1 NM_005157.5 9 Unknown g.130874969A>C - N S Jamali et al.(2021) ABL1_000001 rs1396443734 - - Nur Aisyah Athirah +/. - c.1187A>C - r.(?) p.(His396Pro) missense -
ACE NM_000789.3 17 Unknown g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - Vicneswari Shunmugam et al.(2016) ACE_000001 rs1799752 - - Nur Aisyah Athirah +/. - c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - r.(=) p.(=) - -
ACE NM_152830.2 17 Unknown g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - Vicneswari Shunmugam et al.(2016) ACE_000001 rs1799752 - - Nur Aisyah Athirah +/. - c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - r.(=) p.(=) - -
ACE NM_001178057.1 17 Unknown g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - Vicneswari Shunmugam et al.(2016) ACE_000001 rs1799752 - - Nur Aisyah Athirah +/. - c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - r.(=) p.(=) - -
ADAM28 NM_014265.6 8 Unknown g.64752G>A - Adiratna Mat Ripen et al.(2020) ADAM28_000001 rs7814768 - - Nur Aisyah Athirah -/. 22 c.2293G>A - r.(?) p.(Val765Met) - Benign
ADAM28 NM_014265.6 8 Unknown g.64752G>A - Adiratna Mat Ripen et al.(2020) ADAM28_000001 rs7814768 - - Nur Aisyah Athirah -/. 22 c.2293G>A - r.(?) p.(Val765Met) - Benign
ADRA2A NM_000681.3 10 Unknown g.111079821A>G - Vicneswari Shunmugam et al.(2016) ADRA2A_000001 rs553668 22/45 - Nur Aisyah Athirah +/. - c.*427A>G - r.(=) p.(=) - -
ADRA2A NM_000681.3 10 Unknown g.111079821A>G - Vicneswari Shunmugam et al.(2016) ADRA2A_000001 rs553668 64/116 - Nur Aisyah Athirah +/. - c.*427A>G - r.(=) p.(=) - -
ADRA2A NM_000681.3 10 Unknown g.111079821A>G - Vicneswari Shunmugam et al.(2016) ADRA2A_000001 rs553668 - - Nur Aisyah Athirah +/. - c.*427A>G - r.(=) p.(=) - -
ADRB2 NM_000024.5 5 Unknown g.148826877G>A - M Komara et al. (2014), dbSNP, ClinVar ADRB2_000002 rs1042713 112/160 - Nuur Athirah Binti Mohd Daud -/. - c.46G>A - r.(?) p.(Gly16Arg) - ClinVar
ADRB2 NM_000024.5 5 Both (homozygous) g.148826877G>A - M Komara et al. (2014), dbSNP, ClinVar ADRB2_000002 rs1042713 12/160 - Nuur Athirah Binti Mohd Daud -/. - c.46G>A - r.(?) p.(Gly16Arg) - ClinVar
ADRB2 NM_000024.5 5 Unknown g.148826910G>C - M Komara et al. (2014), dbSNP, (OMIM 0002), ClinVar ADRB2_000001 rs1042714 80/160 - Nuur Athirah Binti Mohd Daud -/. - c.79G>C - r.(?) p.(Glu27Gln) - ClinVar
ADRB2 NM_000024.5 5 Both (homozygous) g.148826910G>C - M Komara et al. (2014), dbSNP, (OMIM 0002), ClinVar ADRB2_000001 rs1042714 3/70 - Nuur Athirah Binti Mohd Daud -/. - c.79G>C - r.(?) p.(Glu27Gln) - ClinVar
ADRB2 NM_000024.5 5 Unknown g.148826910G>C - Yamunah Devi Apalasamy et al. (2015), dbSNP, (OMIM 0002), ClinVar ADRB2_000001 rs1042714 26/172 - Nuur Athirah Binti Mohd Daud -/. - c.79G>C - r.(?) p.(Glu27Gln) - ClinVar
ADRB2 NM_000024.5 5 Unknown g.148826877G>A - A E Atia et al. (2012), dbSNP, (OMIM 0001), ClinVar ADRB2_000002 rs1042713 23/50 - Nuur Athirah Binti Mohd Daud -/. - c.46G>A - r.(?) p.(Gly16Arg) - ClinVar
ADRB2 NM_000024.5 5 Both (homozygous) g.148826877G>A - A E Atia et al. (2012), dbSNP, (OMIM 0001), ClinVar ADRB2_000002 rs1042713 13/50 - Nuur Athirah Binti Mohd Daud -/. - c.46G>A - r.(?) p.(Gly16Arg) - ClinVar
ADRB2 NM_000024.5 5 Unknown g.148826910G>C Gln27Glu A E Atia et al. (2012), dbSNP, (OMIM 0002), ClinVar ADRB2_000001 rs1042714 5/50 - Nuur Athirah Binti Mohd Daud -/. - c.79G>C - r.(?) p.(Glu27Gln) - ClinVar
ADRB2 NM_000024.5 5 Both (homozygous) g.148826910G>C Gln27Glu A E Atia et al. (2012), dbSNP, (OMIM 0002), ClinVar ADRB2_000001 rs1042714 44/50 - Nuur Athirah Binti Mohd Daud -/. - c.79G>C - r.(?) p.(Glu27Gln) - ClinVar
ADRB2 NM_000024.5 5 Unknown g.148826877G>A - Soma Roy Mitra et al. (2019), dbSNP, (OMIM 0001), ClinVar ADRB2_000002 rs1042713 41/79 - Nuur Athirah Binti Mohd Daud -/. - c.46G>A - r.(?) p.(Gly16Arg) - rs1042713
ADRB2 NM_000024.5 5 Unknown g.148826877G>A - Soma Roy Mitra et al. (2019), dbSNP, (OMIM 0001), ClinVar ADRB2_000002 rs1042713 19/79 - Nuur Athirah Binti Mohd Daud -/. - c.46G>A - r.(?) p.(Gly16Arg) - ClinVar
ADSL NM_000026.3 22 Unknown g.40354290C>G - Bee Chin Chen et al.(2010) ADSL_000001 rs780482118 - - Nur Aisyah Athirah +/. - c.445C>G - r.(?) p.(Arg149Gly) - -
AGER NM_001136.4 6 Unknown g.32183666C>T G82S Foo Nian Wong et al. (2016), dbSNP AGER_000001 rs2070600 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 rs2070600 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 rs1800624 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 rs1800624 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 rs1800625 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 rs1800625 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 rs184003 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 rs184003 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 rs3134940 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 rs3134940 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 rs150400704 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 rs150400704 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 rs796452917 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 rs796452917 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 rs796452917 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 rs796452917 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 rs886057791 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 rs886057791 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 rs886057791 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 rs886057791 7/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud +/. - c.-388T>A - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32183666C>T Gly82Ser Z X Ng et al. (2012), dbSNP AGER_000001 rs2070600 17/98 - Nuur Athirah Binti Mohd Daud +/. - c.244G>A - r.(?) p.(Gly82Ser) - -
AGER NM_001136.4 6 Both (homozygous) g.32183666C>T Gly82Ser Z X Ng et al. (2012), dbSNP AGER_000001 rs2070600 81/98 - Nuur Athirah Binti Mohd Daud +/. - c.244G>A - r.(?) p.(Gly82Ser) - -
AGER NM_001136.4 6 Unknown g.32182519C>A 1704G/T Z X Ng et al. (2012), dbSNP AGER_000004 rs184003 37/98 - Nuur Athirah Binti Mohd Daud +/. - c.822+49G>T - r.(=) p.(=) - -
AGER NM_001136.4 6 Both (homozygous) g.32182519C>A 1704G/T Z X Ng et al. (2012), dbSNP AGER_000004 rs184003 61/98 - Nuur Athirah Binti Mohd Daud +/. - c.822+49G>T - r.(=) p.(=) - -
AGER NM_001136.4 6 Unknown g.32182039T>C 2184A/G Z X Ng et al. (2012), dbSNP AGER_000005 rs3134940 25/98 - Nuur Athirah Binti Mohd Daud +/. - c.964+208A>G - r.(=) p.(=) - -
AGER NM_001136.4 6 Both (homozygous) g.32182039T>C 2184A/G Z X Ng et al. (2012), dbSNP AGER_000005 rs3134940 73/98 - Nuur Athirah Binti Mohd Daud +/. - c.964+208A>G - r.(=) p.(=) - -
AGL NM_000642.2 1 Unknown g.99884704G>A - Ili Syazwana Abdullah et al. (2019)dbSNP AGL_000001 rs201201443 6/14 - Nuur Athirah Binti Mohd Daud +/. 21 c.2681+1G>A - r.spl? p.? - ClinVar
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 rs1555397212 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 rs886048021 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)dbSNP AGL_000006 rs751952198 1/2 - Nuur Athirah Binti Mohd Daud +?/. 12i c.1423+1G>T - r.spl? p.? - ClinVar
AGL NM_000642.2 1 Unknown g.99884704G>A - Ili Syazwana Abdullah et al. (2019)dbSNP AGL_000001 rs201201443 1/2 - Nuur Athirah Binti Mohd Daud +/. 21 c.2681+1G>A - r.spl? p.? - ClinVar
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)dbSNP AGL_000009 rs150866831 2 - Nuur Athirah Binti Mohd Daud -?/. 15 c.1783C>T - r.(?) p.(Arg595*) - ClinVar
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