View all variants affecting transcripts

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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Inheritance     

IthaID     

Cytogenetic_Location     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APC NM_000038.5 5 Unknown g.112173598delA Bunyan et al. (1995) APC_000001 rs2229993 - - - - - Savvas Nikolaou +/+ 18 c.2307delA r.(?) p.Leu769Phefs*8
APCS NM_001639.3 1 Unknown NC_000001.11:g.159588468A>G Abdelhadi O. (2016) APCS_000001 rs2808661 - - - - - Panayiotis Laouris +/. 2 NC_000001.11:g.159588468A>G NM_001639.3:c.432A>G NP_001630.1:p.Val144=
ATP6V1B1 NM_001692.3 2 Unknown g.71187092C>T Elia et al. (2011) ATP6V1B1_000001 rs782500780 - - - - - Savvas Nikolaou ./. - g.71187092C>T - p.Arg115Cys
BRCA1 NM_007300.3 17 Unknown NC_000017.11:g.43093691T>A - BRCA1_000001 - - - - - - Georgia Charalambous ./. 10 NC_000017.11:g.43093691T>A NM_007300.3:c.1840A>T NP_009228.2:p.Lys567Ter
BRCA1 NM_007294.3 17 Unknown NC_000017.11:g.43051085delC - BRCA1_000002 - - - - - - Georgia Charalambous ./. 20 NC_000017.11:g.43051085delC NM_007294.3:c.5310delG NP_009225.1:p.Phe1772Serfs
BRCA2 NM_000059.3 13 Unknown g.32953455G>T Karchin et al. (2008) BRCA2_000001 rs15869 - - - - - Savvas Nikolaou -/. 22 c.8756G>T - p.Gly2919Val
C1QA NM_015991.2 1 Unknown NC_000001.11:g.22638945A>G Dardiotis E. (2009) C1QA_000001 rs172378 - - - - - Panayiotis Laouris +/. 3 NC_000001.11:g.22638945A>G NM_015991.3:c.276A>G NP_057075
CFH NM_000186.3 1 Unknown NC_000001.11:g.196690107C>T Sardell RJ et al. (2016) CFH_000001 - - - - - - Georgia Charalambous +/. 9 NC_000001.11:g.196690107C>T NM_000186.3:c.1204C>T NP_000177.2:p.His402Tyr
CFTR NM_000492.3 7 Unknown g.117559592_117559594delCTT Quint et al. (2005) CFTR_000001 rs113993960 50% CFTR in CY - - - - Savvas Nikolaou +/. 11 c.1521_1523del c.1521_1523delCTT p.(Phe508del)
CFTR NM_000492.3 7 Unknown NC_000007.14:g.117540178delT Schwartz KM et al. (2009); Claustres M et al. (1992); CFTR_000002 - - - - - - Georgia Charalambous +/. 8 NC_000007.14:g.117540178delT NM_000492.3:c.948delT NP_000483.3:p.Phe316Leufs
CFTR NM_000492.3 7 Unknown NC_000007.14:g.117559592_117559594delCTT Quint et al. (2005) CFTR_000004 rs113993960 - - Georgia - - Georgia Charalambous +/. 11 NC_000007.14:g.117559592_117559594delCTT NM_000492.3:c.1521_1523delCTT NP_000483.3:p.Phe508del
CFTR NM_000492.3 7 Unknown NC_000007.14:g.117652877C>G McDonagh EM et al. (2015) CFTR_000005 - - - - - - Georgia Charalambous ./. 24 NC_000007.14:g.117652877C>G NM_000492.3:c.3909C>G NP_000483.3:p.Asn1303Lys
CFTR NM_000492.3 7 Unknown NC_000007.14:g.117587800G>A Takano H (1991) CFTR_000006 - - - - - - Georgia Charalambous +/. 12 NC_000007.14:g.117587800G>A NM_000492.3:c.1646G>A NP_000483.3:p.Ser549Asn
COL4A3 NM_000091.4 2 Paternal (confirmed) g.228168732C>A Bullich et al. (2015) COL4A3_000001 - 70.7% - - - - Savvas Nikolaou +/. 45i c.4028-3C>A r.4028_4153del p.Val1344_G1385del
COL4A5 NM_000495.4 X Unknown - Demosthenous et al. (2012) COL4A5_000001 rs281874682 - - - - - Savvas Nikolaou ./. - c.1883C>T - p.Pro628Leu
CYP21A2 NM_000500.7 6 Unknown g.32007887G>A Coeli et al. (2010) CYP21A2_000001 rs6471 - - - - - Savvas Nikolaou ./. - g.32007887G>A - p.Val281Leu
ETHE1 NM_014297.3 19 Unknown g.43508816A>C Drousiotou et al. (2011) ETHE1_000001 rs387906987 - - - - - Savvas Nikolaou ./. 5 g.43508816A>C - p.Leu185Arg
EYA1 NM_000503.5 8 Parent #1 g.72127864G>A - EYA1_000001 rs140365206 - - - - - Savvas Nikolaou +?/? - c.1460C>T r.(?) p.(Ser487Leu)
FXN NM_000144.4 9 Maternal (confirmed) g.71652203_71652205[(750_850)] Campuzano et al. (1996) FXN_000001 rs104894105 - - - - - Savvas Nikolaou +/. 1i c.165+1340GAA[(750_850)] r.0? p.0?
G6PD NM_000402.4 X Parent #1 g.153762634G>A Rajith and Priya Doss (2011) G6PD_000001 rs5030868 - - - - - Savvas Nikolaou +/? 6 c.563C>T r.(?) p.(Ser188Phe)
G6PD NM_000402.4 X Unknown NC_000023.11:g.154532257C>T - G6PD_000002 - - - - - - Georgia Charalambous +/. 12 NC_000023.11:g.154532257C>T NM_001042351.2:c.1388G>A NP_001035810.1:p.Arg463His
G6PD NM_000402.4 X Unknown NC_000023.11:g.154532990C>T - G6PD_000003 - - - - - - Georgia Charalambous +/. 9 NC_000023.11:g.154532990C>T NM_001042351.2:c.1003G>A NP_001035810.1:p.Ala335Thr
GJB2 NM_004004.5 13 Unknown g.20763686delC Neocleous et al. (2006) GJB2_000001 rs80338939 2.5% - - - - Savvas Nikolaou ./. - g.20763686delC - p.Gly12Valfs
GLB1 NM_000404.2 3 Unknown g.33114036G>A Chakraborty et al. (1994) GLB1_000001 rs72555393 - - - - - Savvas Nikolaou ./. - g.33114036G>A - p.Thr82Met
GLB1 NM_000404.2 3 Unknown NC_000003.12:g.33016743C>T Suzuki Y et al. (1993) Oshima A et al. (1991) Mosna G et al. (1992) GLB1_000002 - - - - - - Georgia Charalambous ./. 14 NC_000003.12:g.33016743C>T NM_000404.3:c.1445G>A NP_000395.2:p.Arg482His
HBA1 NM_000558.4 16 Unknown g.34164_37967del3804 Embury et al. (1980); Kountouris et al. (2016) HBA1_000001 - - - autosomal recessive IthaID 300 - Savvas Nikolaou ./. - g.34164_37967del3804 - -
HBA1 NM_000558.4 16 Unknown g.10864_40864del30001 Pressley et al. (1980); Kountouris et al. (2016) HBA1_000002 - - - autosomal recessive IthaID 312 - Savvas Nikolaou ./. - g.10864_40864del30001 - -
HBA1 NM_000558.4 16 Unknown g.10864_40864del30001 Kutlar et al. (1989); Kountouris et al. (1989); Harteveld et al. (1997) HBA1_000002 - - - autosomal recessive IthaID 313 - Savvas Nikolaou ./. - g.10864_40864del30001 - -
HBA1 NM_000558.4 16 Unknown g.15164_37864del22701 Nicholls et al. (1985); Kountouris et al. (2016) HBA1_000003 - - - autosomal recessive IthaID 314 - Savvas Nikolaou ./. - g.15164_37864del22701 - -
HBA1 NM_000558.4 16 Unknown g.177309delC Oron-Karni et al. (2000); Kountouris et al. (2016) HBA1_000004 rs281864535 - - autosomal recessive IthaID 398 - Savvas Nikolaou ./. 3 g.177309delC c.327delC p.Leu110Trpfs
HBA1 NM_000558.4 16 Unknown g.26264_45564del19301 Pressley et al. (1980); Kountouris et al. (2016) HBA1_000005 - - - autosomal recessive IthaID 309 - Savvas Nikolaou ./. - g.26264_45564del19301 - -
HBA2 NM_000517.4 16 Unknown g.173009_173013delTGAGG Kountouris et al. (2016); Felber et al. (1982); Orkin et al. (1981) HBA2_000001 rs41474145 - - autosomal recessive IthaID 359 - Savvas Nikolaou ./. 1i g.173009_173013delTGAGG c.95+2_95+6del -
HBA2 NM_000517.4 16 Unknown g.173694A>C Higgs et al. (1983); Whitelaw and Proudfoot (1986);Thein et al. (1988); Kountouris et al. (2016) HBA2_000002 rs63751269 - - autosomal recessive IthaID 424 - Savvas Nikolaou ./. α2 g.173694A>C c.*94A>C -
HBA2 NM_000517.4 16 Unknown g.173692A>G Baysal et al. (1995);Yüregir et al. (1992); Kyriacou et al. (2000); Kountouris et al. (2016) HBA2_000003 rs63750067 - - autosomal recessive IthaID 425 - Savvas Nikolaou ./. α2 g.173692A>G c.*92A>G -
HBA2 NM_000517.4 16 Unknown g.173001T>C Hall et al. (1993); Kountouris et al. (2016) HBA2_000004 rs41341344 - - autosomal dominant IthaID 356 - Savvas Nikolaou ./. 1 g.173001T>C c.89T>C p.Leu30Pro
HBA2 NM_000517.4 16 Unknown g.173312G>A Wajcman et al. (1972);Aubert et al. (1977);Nozari et al. (1977);Kountouris et al. (2016) HBA2_000005 rs281864878 - - autosomal dominant IthaID 673 - Savvas Nikolaou ./. 2 g.173312G>A c.283G>A p.Asp95Asn
HBA2 NM_000517.4 16 Unknown g.173598T>A Efremov et al. (1990); Clegg et al. (1974); Kountouris et al. (2016) HBA2_000006 rs41464951 - - autosomal dominant IthaID 419 - Savvas Nikolaou ./. 3 g.173598T>A c.427T>A p.Ter143Gln
HBA2 NM_000517.4 16 Unknown g.176780G>C Wajman et al. (1989); Kountouris et al.(2016) HBA2_000007 rs34324664 - - autosomal dominant IthaID 481 α2 Savvas Nikolaou ./. 1 g.176780G>C c.64G>C p.Ala22Pro
HBA2 NM_000517.4 16 Unknown g.173266C>G Van Ros et al. (1968); North et al. (1975); Rhoda et al. (1983); Moradkhani et al. (2009); Silva et al. (2012); Kountouris et al. (2016) HBA2_000008 rs281860607 - - autosomal dominant IthaID 626 α2 Savvas Nikolaou ./. 2 g.173266C>G c.237C>G p.Asn79Lys
HBB NM_000518.4 11 Unknown g.5226929C>A Spritz et al. (1981); Westaway et al. (1981) HBB_000001 rs33971440 - - - - - Savvas Nikolaou ./. - c.92+1G>A - -
HBB NM_000518.4 11 Unknown c.118C>T Orkin et al. (1981); Trecartin et al. (1981); Gorski et al. (1982) HBB_000002 rs11549407 - - - - - Savvas Nikolaou ./. - :g.5226774G>A - -
HBB NM_000518.4 11 Unknown g.5226924A>G Orkin et al. (1982);Tamagnini et al. (1983) HBB_000003 rs35724775 - - - - - Savvas Nikolaou ./. - c.92+6T>C - -
HBB NM_000518.4 11 Unknown g.5226996_5226997delTT Orkin et al. (1981); Filon et al. (1995) HBB_000004 rs35497102 - - - - - Savvas Nikolaou ./. - c.25_26delAA - p.Lys9Valfs
HBB NM_000518.4 11 Unknown g.5227002delT Chang et al. (1983); Kazanian et al. (1983); Petkov et al. (1990) HBB_000005 rs63749819 - - - - - Savvas Nikolaou ./. 1 g.5227002delT c.20delA p.Glu7Glyfs
HBB NM_000518.4 11 Unknown g.5225832G>C Orkin et al. (1981) HBB_000006 rs34690599 - - autosomal recessive IthaID 214 - Savvas Nikolaou ./. 2i g.5225832G>C c.316-106C>G -
HBB NM_000518.4 11 Unknown g.5227158G>A Coleman et al. (1992) HBB_000007 rs33941377 - - autosomal recessive IthaID 12 - Savvas Nikolaou ./. - g.5227158G>A c.-137C>A -
HBB NM_000518.4 11 Unknown g.5225729G>C Gonzalez-Redondo et al. (1988); Wong et al. (1989) HBB_000008 rs33913413 - - autosomal recessive IthaID 221 - Savvas Nikolaou ./. 2i g.5225729G>C c.316-3C>A -
HBB NM_000518.4 11 Unknown g.5227002delT Chang et al. (1983); Kazazian et al. (1983);Kazazian et al. (1983);Kazazian et al. (1983) HBB_000005 rs63749819 - - autosomal recessive IthaID 57 - Savvas Nikolaou ./. 1 g.5227002delT c.20delA p.Glu7Glyfs
HBB NM_000518.4 11 Unknown g.5227002T>A Ingram et al. (1956); Ingram et al. (1959);Wishner et al. (1975) HBB_000009 rs334 - - autosomal recessive IthaID 821 - Savvas Nikolaou ./. 1 g.5227002T>A c.20A>C p.Glu7Ala
HBB NM_000518.4 11 Unknown g.5226757delG Kinniburgh et al. (1982); Rund et al. (1991) HBB_000010 rs80356820 - - autosomal recessive IthaID 151 - Savvas Nikolaou ./. 2 g.5226757delG c.135delC p.Phe46Leufs
HBB NM_000518.4 11 Unknown g.63632_71046del7414 Ribeiro et al. (1997) HBB_000011 - - - autosomal dominant IthaID 1399 - Savvas Nikolaou ./. - g.63632_71046del7414 - -
HBB NM_000518.4 11 Unknown g.5226576C>A Baird et al. (1981); Treisman et al. (1982) HBB_000012 rs33945777 - - autosomal recessive IthaID 200 - Savvas Nikolaou ./. 2i g.5226576C>A c.315+1G>A -
HBB NM_000518.4 11 Unknown g.64336_77738del13403 Fritsch et al. (1979); Ottolenghi et al. (1979);Henthorn et al. (1990) HBB_000013 - - - autosomal recessive IthaID 1507 - Savvas Nikolaou ./. - g.64336_77738del13403 - -
HBB NM_000518.4 11 Unknown g.5227039G>C Ho et al. (1996) HBB_000014 rs34135787 - - autosomal recessive IthaID 39 - Savvas Nikolaou ./. 5'UTR 0 g.5227039G>C c.-18C>G -
HBB NM_000518.4 11 Unknown g.5227172G>A Gonzalez-Redondo et al. (1989);Maragoudaki et al. (1999);Kountouris et al. (2016) HBB_000015 rs63751208 - - autosomal recessive IthaID 3 - Savvas Nikolaou ./. - g.5227172G>A c.-151C>T -
HBB NM_000518.4 11 Unknown g.5227172G>A Kountouris et al. (2016); De Angioletti et al. (1992);Kutlar et al. (1989);Rahbar et al. (1984) HBB_000015 rs33947415 - - autosomal dominant IthaID 1030 - Savvas Nikolaou ./. 2 g.5226684C>G c.208G>A p.Gly70Arg
HBB NM_000518.4 11 Unknown g.5225678C>A Lehmann (1958); Schneider et al. (1968); Ozsoylu et al. (1970); Kountouris et al. (2016) HBB_000016 rs33946267 - - autosomal dominant IthaID 1217 - Savvas Nikolaou ./. 3 g.5225678C>A c.364G>A p.Glu122Gln
HBB NM_000518.4 11 Unknown g.5226940C>A Arous et al. (1982); Fessas et al. (1982);Orkin et al. (1984);Baklouti et al. (1986);Kountouris et al. (2016) HBB_000017 rs35424040 - - autosomal recessive IthaID 91 - Savvas Nikolaou ./. 1 g.5226940C>A c.82G>T p.Ala28Ser
HEXA NM_000520.4 15 Unknown NC_000015.10:g.72375895C>T - HEXA_000001 rs121907964 - - - - - Panayiotis Laouris ./. 1 NC_000015.10:g.72375895C>T NM_000520.5:c.78G>A NP_000511.2:p.Trp26Ter
HEXB NM_000521.3 5 Unknown g.73992881A>G Zhang et al. (1995) HEXB_000001 rs820878 - - - - - Savvas Nikolaou ./. - g.74685445T>C - p.Ser62Leu
HFE NM_000410.3 6 Unknown NC_000006.12:g.26092913G>A Mikhailova SV et al. (2016) Pirpamer L et al. (2016) Katsarou MS at al. (2016) HFE_000002 - - - - - - Georgia Charalambous +/. 4 NC_000006.12:g.26092913G>A NM_000410.3:c.845G>A NP_000401.1:p.Cys282Tyr
HFE NM_001300749.1 6 Unknown NC_000006.12:g.26090951C>G Katsarou et al. (2016) HFE_000003 rs1799945 - - - - - Panayiotis Laouris +/. 2 NC_000006.12:g.26090951C>G NM_001300749.1:c.187C>G NP_001287678.1:p.His63Asp
HTT NM_002111.7 4 Unknown g.71552_3375637del Deciphering Developmental Disorders Study (2015) HTT_000001 - - - - - - Savvas Nikolaou ./. - c.-3005001_*133851del - -
MEFV NM_000243.2 16 Unknown g.3293880A>G Touitou (2001) MEFV_000001 rs11466045 0.01077 - - - - Savvas Nikolaou ?/. 9 c.1772T>C r.(?) p.(Ile591Thr)
MEFV NM_000243.2 16 Unknown NC_000016.10:g.3243310A>G Zaks N et al. (2003) Coşkun S et al. (2016) MEFV_000002 - - - - - - Georgia Charalambous +/. 10 NC_000016.10:g.3243310A>G NM_000243.2:c.2177T>C NP_000234.1:p.Val726Ala
MEFV NM_000243.2 16 Unknown NC_000016.10:g.3243407T>C Coşkun S et al. (2016) MEFV_000003 - - - - - - Georgia Charalambous +/. 10 NC_000016.10:g.3243407T>C NM_000243.2:c.2080A>G NP_000234.1:p.Met694Val
MEFV NM_000243.2 16 Unknown NC_000016.10:g.3254567C>G Bernot A (1998) MEFV_000004 - - - - - - Georgia Charalambous +/. 2 NC_000016.10:g.3254567C>G NM_000243.2:c.501G>C NP_000234.1:p.Glu167Asp
MEFV NM_000243.2 16 Unknown NC_000016.10:g.3247166G>T Bernot A et al. (1998) MEFV_000005 - - - - - - Georgia Charalambous +/. 5 NC_000016.10:g.3247166G>T NM_000243.2:c.1437C>A NP_000234.1:p.Phe479Leu
MEFV NM_000243.2 16 Unknown NC_000016.10:g.3254626C>G Gershoni-Baruch R et al. (2002) MEFV_000006 - - - - - - Georgia Charalambous ./. 2 NC_000016.10:g.3254626C>G NM_000243.2:c.442G>C NP_000234.1:p.Glu148Gln
MEFV NM_000243.2 16 Unknown NC_000016.10:g.3243205C>T Bernot A et al (1998) MEFV_000007 - - - - - - Georgia Charalambous +/. 10 NC_000016.10:g.3243205C>T NM_000243.2:c.2282G>A NP_000234.1:p.Arg761His
MEFV NM_000243.2 16 Unknown NC_000016.10:g.3243447C>T Xiong S et al. (2017) MEFV_000008 - - - - - - Georgia Charalambous +/. 10 NC_000016.10:g.3243447C>T NM_000243.2:c.2040G>A NP_000234.1:p.Met680Ile
MFN2 NM_001127660.1 1 Unknown NC_000001.11:g.11992659C>T - MFN2_000001 rs119103263 - - - - - Panayiotis Laouris +/. 3 NC_000001.11:g.11992659C>T NM_001127660.1:c.280C>T NP_001121132.1:p.Arg94Trp
MPZ NM_000530.6 1 Unknown NC_000001.11:g.161306886G>T - MPZ_000001 rs121913584 - - - - - Panayiotis Laouris ./. 3 NC_000001.11:g.161306886G>T NM_000530.7:c.270C>A NP_000521.2:p.Asp90Glu
PAH NM_000277.1 12 Unknown NC_000012.12:g.102852935C>T - PAH_000001 - - - - - - Georgia Charalambous +/. 7 NC_000012.12:g.102852935C>T NM_000277.1:c.722G>A NP_000268.1:p.Arg241His
PAH NM_000277.1 12 Unknown NC_000012.12:g.102855309T>C - PAH_000002 rs77958223 - - - - - Panayiotis Laouris +/. 6 NC_000012.12:g.102855309T>C NM_000277.1:c.533A>G NP_000268.1:p.Glu178Gly
PAH NM_000277.1 12 Unknown NC_000012.12:g.102851701C>A - PAH_000003 - - - - - - Georgia Charalambous +/. 8 NC_000012.12:g.102851701C>A NM_000277.1:c.898G>T NP_000268.1:p.Ala300Ser
PAH NM_000277.1 12 Unknown NC_000012.12:g.102840507G>A - PAH_000004 rs5030857 - - - - - Panayiotis Laouris +/. 12 NC_000012.12:g.102840507G>A NM_000277.1:c.1208C>T NP_000268.1:p.Ala403Val
PKD1 NM_000296.3 16 Unknown NC_000016.10:g.2090468A>T - PKD1_000001 - - - - - - Georgia Charalambous +/. 45 NC_000016.10:g.2090468A>T NM_000296.3:c.12258T>A NP_000287.3:p.Cys4086Ter
PKD2 NM_000297.3 4 Parent #1 g.88986631C>T Mochizuki et al. (1996) PKD2_000001 rs121918040 - - - - - Savvas Nikolaou +/. 11 c.2224C>T r.(?) p.(Arg742*)
PKD2 NM_000297.3 4 Unknown NC_000004.12:g.88043351C>T - PKD2_000002 - - - - - - Georgia Charalambous ./. 5 NC_000004.12:g.88043351C>T NM_000297.3:c.1213C>T NP_000288.1:p.Gln405Ter
PMP22 NM_000304.3 17 Unknown g.15163980G>A Nicolaou et al. (2010) PMP22_000001 rs104894625 9.5% - - - - Savvas Nikolaou ./. - g.15163980G>A - p.Ser22Phe
RET NM_020630.4 10 Unknown g.43609096T>A Neocleous et al. (2011) RET_000001 rs76262710 - - - - - Savvas Nikolaou ./. - g.43609096T>A - p.Cys618Arg
SLC3A1 NM_000341.3 2 Unknown NC_000002.12:g.44312653T>A - SLC3A1_000001 - - - - - - Georgia Charalambous ./. 8 NC_000002.12:g.44312653T>A NM_000341.3:c.1400T>A NP_000332.2:p.Met467Lys
SRD5A2 NM_000348.3 2 Unknown g.31754489C>T - SRD5A2_000001 rs121434250 - - - - - Savvas Nikolaou ./. - g.31754489C>T - p.Gly196Ser
SRD5A2 NM_000348.3 2 Paternal (confirmed) g.20763686delC Lerer et al. (2001) SRD5A2_000002 rs35887622 - - - IthaID 1 - Savvas Nikolaou +/+ 2 c.35delG r.35del p.Gly12Valfs*2
TTR NM_000371.3 18 Unknown g.31592974G>A Olsson et al. (2010) TTR_000001 rs28933979 - - - - - Savvas Nikolaou ./. - c.148G>A - p.Val50Leu
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