All transcript variants in gene ID2

Information The variants shown are described using the NM_002166.4 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-32C>T r.(=) p.(=) g.8822264C>T Copied from the Exome Variant Server ID2_000001 2/13000 0/8598 2/4402
?/? c.-31C>T r.(=) p.(=) g.8822265C>T Copied from the Exome Variant Server ID2_000002 1/12998 1/8598 0/4400
?/? c.-30C>T r.(=) p.(=) g.8822266C>T Copied from the Exome Variant Server ID2_000003 469/12998 425/8598 44/4400
?/? c.-14del r.(=) p.(=) g.8822282del Copied from the Exome Variant Server ID2_000004 8/12520 0/8254 8/4266
?/? c.-12C>G r.(=) p.(=) g.8822284C>G Copied from the Exome Variant Server ID2_000005 4/13006 0/8600 4/4406
?/? c.-6G>A r.(=) p.(=) g.8822290G>A Copied from the Exome Variant Server ID2_000006 1/13006 1/8600 0/4406
?/? c.12C>T r.(=) p.(=) g.8822307C>T Copied from the Exome Variant Server ID2_000007 4/13006 4/8600 0/4406
?/? c.29T>A r.(?) p.(Val10Asp) g.8822324T>A Copied from the Exome Variant Server ID2_000008 1/13006 0/8600 1/4406
?/? c.46T>C r.(?) p.(Ser16Pro) g.8822341T>C Copied from the Exome Variant Server ID2_000009 1/13006 1/8600 0/4406
?/? c.54C>T r.(=) p.(=) g.8822349C>T Copied from the Exome Variant Server ID2_000010 1/13006 1/8600 0/4406
?/? c.81C>T r.(=) p.(=) g.8822376C>T Copied from the Exome Variant Server ID2_000011 3/13006 0/8600 3/4406
?/? c.103C>T r.(=) p.(=) g.8822398C>T Copied from the Exome Variant Server ID2_000012 184/13006 0/8600 184/4406
?/? c.120C>T r.(=) p.(=) g.8822415C>T Copied from the Exome Variant Server ID2_000013 1/13006 0/8600 1/4406
?/? c.123C>T r.(=) p.(=) g.8822418C>T Copied from the Exome Variant Server ID2_000014 1/13006 1/8600 0/4406
?/? c.177G>A r.(=) p.(=) g.8822472G>A Copied from the Exome Variant Server ID2_000015 2/13006 0/8600 2/4406
?/? c.186G>A r.(?) p.(Met62Ile) g.8822481G>A Copied from the Exome Variant Server ID2_000016 1/13006 1/8600 0/4406
?/? c.193C>T r.(=) p.(=) g.8822488C>T Copied from the Exome Variant Server ID2_000018 1/13006 1/8600 0/4406
?/? c.197A>G r.(?) p.(Gln66Arg) g.8822492A>G Copied from the Exome Variant Server ID2_000020 1/13006 1/8600 0/4406
?/? c.216C>T r.(=) p.(=) g.8822511C>T Copied from the Exome Variant Server ID2_000022 2/13006 2/8600 0/4406
?/? c.222C>T r.(=) p.(=) g.8822517C>T Copied from the Exome Variant Server ID2_000024 1/13006 0/8600 1/4406
?/? c.232G>A r.(?) p.(Ala78Thr) g.8822527G>A Copied from the Exome Variant Server ID2_000027 2/13006 2/8600 0/4406
?/? c.348+7C>T r.(=) p.(=) g.8822650C>T Copied from the Exome Variant Server ID2_000028 1/13004 1/8600 0/4404
?/? c.348+11C>T r.(=) p.(=) g.8822654C>T Copied from the Exome Variant Server ID2_000030 1/13004 1/8600 0/4404
?/? c.349-68A>C r.(=) p.(=) g.8822905A>C Copied from the Exome Variant Server ID2_000032 47/4566 43/3182 4/1384
?/? c.349-68_349-67insC r.(=) p.(=) g.8822905_8822906insC Copied from the Exome Variant Server ID2_000034 363/12518 277/8254 86/4264
?/? c.349-65A>C r.(=) p.(=) g.8822908A>C Copied from the Exome Variant Server ID2_000017 14/4566 1/3182 13/1384
?/? c.349-46C>G r.(=) p.(=) g.8822927C>G Copied from the Exome Variant Server ID2_000019 1/13006 0/8600 1/4406
?/? c.349-45T>C r.(=) p.(=) g.8822928T>C Copied from the Exome Variant Server ID2_000021 2/13006 2/8600 0/4406
?/? c.349-30C>T r.(=) p.(=) g.8822943C>T Copied from the Exome Variant Server ID2_000023 1/13006 1/8600 0/4406
?/? c.349-15C>T r.(=) p.(=) g.8822958C>T Copied from the Exome Variant Server ID2_000025 1/13006 1/8600 0/4406
?/? c.383A>G r.(?) p.(Asp128Gly) g.8823007A>G Copied from the Exome Variant Server ID2_000026 1/13006 1/8600 0/4406
?/? c.391G>A r.(?) p.(Ala131Thr) g.8823015G>A Copied from the Exome Variant Server ID2_000029 1/13006 0/8600 1/4406
?/? c.*7+12C>T r.(=) p.(=) g.8823048C>T Copied from the Exome Variant Server ID2_000031 1/13006 0/8600 1/4406
?/? c.*7+36C>T r.(=) p.(=) g.8823072C>T Copied from the Exome Variant Server ID2_000033 1/13006 1/8600 0/4406
?/? c.*7+37C>T r.(=) p.(=) g.8823073C>T Copied from the Exome Variant Server ID2_000035 3/13006 3/8600 0/4406
?/? c.*7+48T>C r.(=) p.(=) g.8823084T>C Copied from the Exome Variant Server ID2_000036 1/4566 1/3182 0/1384
?/? c.*7+51_*7+52del r.(=) p.(=) g.8823087_8823088del Copied from the Exome Variant Server ID2_000038 12/12516 8/8252 4/4264
?/? c.*7+51_*7+52dup r.(=) p.(=) g.8823087_8823088dup Copied from the Exome Variant Server ID2_000037 2/12516 2/8252 0/4264
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