All transcript variants in gene GAB3

Information The variants shown are described using the NM_001081573.1 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.100C>T r.(?) p.(Arg34Trp) g.153944577G>A Copied from the Exome Variant Server GAB3_000048 1/10562 0/6728 1/3834
?/? c.216C>T r.(=) p.(=) g.153944461G>A Copied from the Exome Variant Server GAB3_000047 1/10563 0/6728 1/3835
?/? c.253G>A r.(?) p.(Val85Met) g.153944424C>T Copied from the Exome Variant Server GAB3_000046 7/10563 0/6728 7/3835
?/? c.260T>C r.(?) p.(Ile87Thr) g.153944417A>G Copied from the Exome Variant Server GAB3_000045 2/10563 0/6728 2/3835
?/? c.278G>A r.(?) p.(Arg93His) g.153944399C>T Copied from the Exome Variant Server GAB3_000044 1/10563 1/6728 0/3835
?/? c.373G>A r.(?) p.(Ala125Thr) g.153944304C>T Copied from the Exome Variant Server GAB3_000043 1/10563 1/6728 0/3835
?/? c.377-48C>T r.(=) p.(=) g.153941749G>A Copied from the Exome Variant Server GAB3_000042 1/10547 1/6715 0/3832
?/? c.377-47G>A r.(=) p.(=) g.153941748C>T Copied from the Exome Variant Server GAB3_000041 1/10554 0/6721 1/3833
?/? c.377-41T>C r.(=) p.(=) g.153941742A>G Copied from the Exome Variant Server GAB3_000040 1/10562 0/6727 1/3835
?/? c.405G>A r.(=) p.(=) g.153941673C>T Copied from the Exome Variant Server GAB3_000039 6/10563 1/6728 5/3835
?/? c.448G>T r.(?) p.(Ala150Ser) g.153941630C>A Copied from the Exome Variant Server GAB3_000025 1/10563 0/6728 1/3835
?/? c.498C>T r.(=) p.(=) g.153941580G>A Copied from the Exome Variant Server GAB3_000024 1/10563 1/6728 0/3835
?/? c.570C>T r.(=) p.(=) g.153941508G>A Copied from the Exome Variant Server GAB3_000023 3/10563 0/6728 3/3835
?/? c.578G>C r.(?) p.(Gly193Ala) g.153941500C>G Copied from the Exome Variant Server GAB3_000022 1/10563 1/6728 0/3835
?/? c.596+11G>A r.(=) p.(=) g.153941471C>T Copied from the Exome Variant Server GAB3_000021 35/10563 0/6728 35/3835
?/? c.596+19C>T r.(=) p.(=) g.153941463G>A Copied from the Exome Variant Server GAB3_000020 1/10563 0/6728 1/3835
?/? c.597-15G>T r.(=) p.(=) g.153940991C>A Copied from the Exome Variant Server GAB3_000019 1/10560 1/6726 0/3834
?/? c.639A>G r.(=) p.(=) g.153940934T>C Copied from the Exome Variant Server GAB3_000018 658/10563 4/6728 654/3835
?/? c.640T>C r.(=) p.(=) g.153940933A>G Copied from the Exome Variant Server GAB3_000017 1/10563 1/6728 0/3835
?/? c.701A>G r.(?) p.(His234Arg) g.153940872T>C Copied from the Exome Variant Server GAB3_000016 1/10563 1/6728 0/3835
?/? c.712C>T r.(?) p.(Pro238Ser) g.153940861G>A Copied from the Exome Variant Server GAB3_000015 434/10563 405/6728 29/3835
?/? c.745C>T r.(?) p.(Pro249Ser) g.153940828G>A Copied from the Exome Variant Server GAB3_000014 2/10563 0/6728 2/3835
?/? c.752C>T r.(?) p.(Ser251Leu) g.153940821G>A Copied from the Exome Variant Server GAB3_000013 1/10563 0/6728 1/3835
?/? c.829C>T r.(=) p.(=) g.153940744G>A Copied from the Exome Variant Server GAB3_000012 17/10563 0/6728 17/3835
?/? c.836G>T r.(?) p.(Ser279Ile) g.153940737C>A Copied from the Exome Variant Server GAB3_000011 1/10563 0/6728 1/3835
?/? c.878C>T r.(?) p.(Ser293Phe) g.153940695G>A Copied from the Exome Variant Server GAB3_000010 1/10563 1/6728 0/3835
?/? c.963G>A r.(=) p.(=) g.153940610C>T Copied from the Exome Variant Server GAB3_000009 1/10563 1/6728 0/3835
?/? c.965G>A r.(?) p.(Arg322His) g.153940608C>T Copied from the Exome Variant Server GAB3_000008 1/10563 1/6728 0/3835
?/? c.1070-46T>C r.(=) p.(=) g.153928380A>G Copied from the Exome Variant Server GAB3_000007 1/10563 0/6728 1/3835
?/? c.1070-35C>G r.(=) p.(=) g.153928369G>C Copied from the Exome Variant Server GAB3_000006 1/10563 0/6728 1/3835
?/? c.1070-25C>T r.(=) p.(=) g.153928359G>A Copied from the Exome Variant Server GAB3_000005 1/10563 0/6728 1/3835
?/? c.1106A>G r.(?) p.(Lys369Arg) g.153928298T>C Copied from the Exome Variant Server GAB3_000004 1/10563 1/6728 0/3835
?/? c.1114A>T r.(?) p.(Ser372Cys) g.153928290T>A Copied from the Exome Variant Server GAB3_000003 1/10563 0/6728 1/3835
?/? c.1125+28G>A r.(=) p.(=) g.153928251C>T Copied from the Exome Variant Server GAB3_000002 2/10563 0/6728 2/3835
?/? c.1125+34A>G r.(=) p.(=) g.153928245T>C Copied from the Exome Variant Server GAB3_000001 2/10563 1/6728 1/3835
?/? c.1125+60G>A r.(=) p.(=) g.153928219C>T Copied from the Exome Variant Server GAB3_000038 4/3600 0/2391 4/1209
?/? c.1126-32G>T r.(=) p.(=) g.153927820C>A Copied from the Exome Variant Server GAB3_000037 1/10563 0/6728 1/3835
?/? c.1141C>T r.(?) p.(Pro381Ser) g.153927773G>A Copied from the Exome Variant Server GAB3_000036 1/10563 0/6728 1/3835
?/? c.1142C>T r.(?) p.(Pro381Leu) g.153927772G>A Copied from the Exome Variant Server GAB3_000035 1/10563 1/6728 0/3835
?/? c.1194C>T r.(=) p.(=) g.153927720G>A Copied from the Exome Variant Server GAB3_000034 2/10563 0/6728 2/3835
?/? c.1215T>A r.(=) p.(=) g.153927699A>T Copied from the Exome Variant Server GAB3_000033 1/10563 1/6728 0/3835
?/? c.1278G>A r.(=) p.(=) g.153927636C>T Copied from the Exome Variant Server GAB3_000032 1/10563 0/6728 1/3835
?/? c.1345+43A>G r.(=) p.(=) g.153927526T>C Copied from the Exome Variant Server GAB3_000031 13/10563 0/6728 13/3835
?/? c.1346-52C>T r.(=) p.(=) g.153925540G>A Copied from the Exome Variant Server GAB3_000030 11/6038 10/3621 1/2417
?/? c.1346-4G>A r.spl? p.? g.153925492C>T Copied from the Exome Variant Server GAB3_000029 1/10563 1/6728 0/3835
?/? c.1366C>G r.(?) p.(Leu456Val) g.153925468G>C Copied from the Exome Variant Server GAB3_000028 1/10563 1/6728 0/3835
?/? c.1427+46G>A r.(=) p.(=) g.153925361C>T Copied from the Exome Variant Server GAB3_000027 7/10563 0/6728 7/3835
?/? c.1428-21C>T r.(=) p.(=) g.153924315G>A Copied from the Exome Variant Server GAB3_000054 2/10559 0/6728 2/3831
?/? c.1428-10T>C r.(=) p.(=) g.153924304A>G Copied from the Exome Variant Server GAB3_000053 592/10563 1/6728 591/3835
?/? c.1525G>A r.(?) p.(Glu509Lys) g.153924197C>T Copied from the Exome Variant Server GAB3_000052 125/10562 0/6728 125/3834
?/? c.1531-28A>G r.(=) p.(=) g.153908553T>C Copied from the Exome Variant Server GAB3_000051 1/10563 1/6728 0/3835
?/? c.1559G>C r.(?) p.(Ser520Thr) g.153908497C>G Copied from the Exome Variant Server GAB3_000050 7/10563 1/6728 6/3835
?/? c.1648-16del r.(=) p.(=) g.153906587del Copied from the Exome Variant Server GAB3_000049 1/10201 0/6484 1/3717
?/? c.1696G>A r.(?) p.(Glu566Lys) g.153906523C>T Copied from the Exome Variant Server GAB3_000055 5/10563 4/6728 1/3835
?/? c.*8G>A r.(=) p.(=) g.153906447C>T Copied from the Exome Variant Server GAB3_000026 2/10563 1/6728 1/3835
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