All transcript variants in gene GINS3

Information The variants shown are described using the NM_022770.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-31G>A r.(=) p.(=) g.58426475G>A Copied from the Exome Variant Server GINS3_000001 1/12996 1/8600 0/4396
?/? c.-7G>A r.(=) p.(=) g.58426499G>A Copied from the Exome Variant Server GINS3_000002 14/12996 0/8600 14/4396
?/? c.14A>C r.(?) p.(Tyr5Ser) g.58426519A>C Copied from the Exome Variant Server GINS3_000003 1/12996 1/8600 0/4396
?/? c.22G>A r.(?) p.(Val8Met) g.58426527G>A Copied from the Exome Variant Server GINS3_000004 5/12996 0/8600 5/4396
?/? c.40G>A r.(?) p.(Gly14Arg) g.58426545G>A Copied from the Exome Variant Server GINS3_000005 2/12996 1/8600 1/4396
?/? c.123T>G r.(=) p.(=) g.58426628T>G Copied from the Exome Variant Server GINS3_000006 1/12996 0/8600 1/4396
?/? c.149G>C r.(?) p.(Arg50Pro) g.58426654G>C Copied from the Exome Variant Server GINS3_000007 1/12996 1/8600 0/4396
?/? c.158G>C r.(?) p.(Gly53Ala) g.58426663G>C Copied from the Exome Variant Server GINS3_000008 60/12996 0/8600 60/4396
?/? c.186+12G>A r.(=) p.(=) g.58426703G>A Copied from the Exome Variant Server GINS3_000009 479/12958 322/8576 157/4382
?/? c.186+29del r.(=) p.(=) g.58426720del Copied from the Exome Variant Server GINS3_000010 186/12308 1/8134 185/4174
?/? c.241C>T r.(?) p.(Arg81*) g.58437056C>T Copied from the Exome Variant Server GINS3_000011 1/12996 0/8600 1/4396
?/? c.276C>T r.(=) p.(=) g.58437091C>T Copied from the Exome Variant Server GINS3_000012 2/12996 1/8600 1/4396
?/? c.294T>G r.(=) p.(=) g.58437109T>G Copied from the Exome Variant Server GINS3_000013 5/12996 0/8600 5/4396
?/? c.349T>C r.(?) p.(Tyr117His) g.58437164T>C Copied from the Exome Variant Server GINS3_000014 1/12996 0/8600 1/4396
?/? c.352G>A r.(?) p.(Gly118Arg) g.58437167G>A Copied from the Exome Variant Server GINS3_000015 10/12996 8/8600 2/4396
?/? c.405C>G r.(=) p.(=) g.58437220C>G Copied from the Exome Variant Server GINS3_000016 1/12996 1/8600 0/4396
?/? c.410C>G r.(?) p.(Ser137Cys) g.58437225C>G Copied from the Exome Variant Server GINS3_000017 1/12996 0/8600 1/4396
?/? c.421-49T>G r.(=) p.(=) g.58438354T>G Copied from the Exome Variant Server GINS3_000018 1/12996 1/8600 0/4396
?/? c.421-45G>A r.(=) p.(=) g.58438358G>A Copied from the Exome Variant Server GINS3_000019 16/12996 15/8600 1/4396
?/? c.421-23T>C r.(=) p.(=) g.58438380T>C Copied from the Exome Variant Server GINS3_000020 192/12996 5/8600 187/4396
?/? c.421-16C>T r.(=) p.(=) g.58438387C>T Copied from the Exome Variant Server GINS3_000021 1/12996 1/8600 0/4396
?/? c.429C>T r.(=) p.(=) g.58438411C>T Copied from the Exome Variant Server GINS3_000022 1/12996 0/8600 1/4396
?/? c.430G>A r.(?) p.(Gly144Arg) g.58438412G>A Copied from the Exome Variant Server GINS3_000023 1/12996 1/8600 0/4396
?/? c.434G>A r.(?) p.(Arg145His) g.58438416G>A Copied from the Exome Variant Server GINS3_000024 1/12996 0/8600 1/4396
?/? c.443G>A r.(?) p.(Arg148His) g.58438425G>A Copied from the Exome Variant Server GINS3_000025 1/12996 1/8600 0/4396
?/? c.501G>C r.(?) p.(Arg167Ser) g.58438483G>C Copied from the Exome Variant Server GINS3_000026 1/12996 1/8600 0/4396
?/? c.508G>A r.(?) p.(Glu170Lys) g.58438490G>A Copied from the Exome Variant Server GINS3_000027 1/12996 0/8600 1/4396
?/? c.586C>G r.(?) p.(Gln196Glu) g.58438568C>G Copied from the Exome Variant Server GINS3_000028 1/12996 1/8600 0/4396
?/? c.591C>T r.(=) p.(=) g.58438573C>T Copied from the Exome Variant Server GINS3_000029 1/12996 0/8600 1/4396
?/? c.607G>A r.(?) p.(Val203Ile) g.58438589G>A Copied from the Exome Variant Server GINS3_000030 1/12996 0/8600 1/4396
?/? c.612G>A r.(=) p.(=) g.58438594G>A Copied from the Exome Variant Server GINS3_000031 1/12996 1/8600 0/4396
?/? c.617A>T r.(?) p.(Tyr206Phe) g.58438599A>T Copied from the Exome Variant Server GINS3_000032 1/12996 1/8600 0/4396
?/? c.637G>A r.(?) p.(Asp213Asn) g.58438619G>A Copied from the Exome Variant Server GINS3_000033 1/12996 0/8600 1/4396
?/? c.*5C>T r.(=) p.(=) g.58438638C>T Copied from the Exome Variant Server GINS3_000034 1/12996 1/8600 0/4396
?/? c.*14A>C r.(=) p.(=) g.58438647A>C Copied from the Exome Variant Server GINS3_000035 1/12996 1/8600 0/4396
?/? c.*15C>G r.(=) p.(=) g.58438648C>G Copied from the Exome Variant Server GINS3_000036 1/12996 1/8600 0/4396
?/? c.*19A>G r.(=) p.(=) g.58438652A>G Copied from the Exome Variant Server GINS3_000037 1641/12996 500/8600 1141/4396
?/? c.*22G>A r.(=) p.(=) g.58438655G>A Copied from the Exome Variant Server GINS3_000038 1/12994 1/8598 0/4396
?/? c.*44C>T r.(=) p.(=) g.58438677C>T Copied from the Exome Variant Server GINS3_000039 7/12994 1/8598 6/4396
?/? c.*45G>A r.(=) p.(=) g.58438678G>A Copied from the Exome Variant Server GINS3_000040 2/12988 2/8594 0/4394
Legend