All transcript variants in gene FAM117B

Information The variants shown are described using the NM_173511.3 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.170_172del r.(?) p.(Gly63del) g.203500080_203500082del Copied from the Exome Variant Server FAM117B_000001 35/2564 30/1944 5/620
?/? c.619C>T r.(?) p.(Pro207Ser) g.203560621C>T Copied from the Exome Variant Server FAM117B_000002 1/4566 0/3182 1/1384
?/? c.742A>G r.(?) p.(Lys248Glu) g.203560744A>G Copied from the Exome Variant Server FAM117B_000003 1/13006 1/8600 0/4406
?/? c.750A>G r.(=) p.(=) g.203560752A>G Copied from the Exome Variant Server FAM117B_000004 1/13006 1/8600 0/4406
?/? c.753+30T>G r.(=) p.(=) g.203560785T>G Copied from the Exome Variant Server FAM117B_000005 1/13006 0/8600 1/4406
?/? c.753+69del r.(=) p.(=) g.203560824del Copied from the Exome Variant Server FAM117B_000006 9/12518 0/8252 9/4266
?/? c.808C>T r.(?) p.(Arg270Cys) g.203589694C>T Copied from the Exome Variant Server FAM117B_000007 2/13006 2/8600 0/4406
?/? c.825C>A r.(=) p.(=) g.203589711C>A Copied from the Exome Variant Server FAM117B_000008 1/13006 0/8600 1/4406
?/? c.846+26G>A r.(=) p.(=) g.203589758G>A Copied from the Exome Variant Server FAM117B_000009 1/13006 0/8600 1/4406
?/? c.846+37T>C r.(=) p.(=) g.203589769T>C Copied from the Exome Variant Server FAM117B_000010 1/13006 1/8600 0/4406
?/? c.847-33A>C r.(=) p.(=) g.203590940A>C Copied from the Exome Variant Server FAM117B_000011 29/13006 29/8600 0/4406
?/? c.847-30C>G r.(=) p.(=) g.203590943C>G Copied from the Exome Variant Server FAM117B_000012 1/13006 1/8600 0/4406
?/? c.877A>G r.(?) p.(Ser293Gly) g.203591003A>G Copied from the Exome Variant Server FAM117B_000013 1/13006 1/8600 0/4406
?/? c.924A>G r.(=) p.(=) g.203591050A>G Copied from the Exome Variant Server FAM117B_000014 1/13006 1/8600 0/4406
?/? c.960+22A>C r.(=) p.(=) g.203591108A>C Copied from the Exome Variant Server FAM117B_000015 1/13006 0/8600 1/4406
?/? c.961-28C>T r.(=) p.(=) g.203620233C>T Copied from the Exome Variant Server FAM117B_000016 100/13006 0/8600 100/4406
?/? c.977G>A r.(?) p.(Ser326Asn) g.203620277G>A Copied from the Exome Variant Server FAM117B_000017 1/13006 1/8600 0/4406
?/? c.1016G>T r.(?) p.(Gly339Val) g.203620316G>T Copied from the Exome Variant Server FAM117B_000018 1/13006 0/8600 1/4406
?/? c.1103T>C r.(?) p.(Ile368Thr) g.203620403T>C Copied from the Exome Variant Server FAM117B_000020 1/13006 0/8600 1/4406
?/? c.1104+9T>C r.(=) p.(=) g.203620413T>C Copied from the Exome Variant Server FAM117B_000022 1/13002 1/8600 0/4402
?/? c.1104+19_1104+20insA r.(=) p.(=) g.203620423_203620424insA Copied from the Exome Variant Server FAM117B_000024 51/12502 46/8246 5/4256
?/? c.1104+41T>C r.(=) p.(=) g.203620445T>C Copied from the Exome Variant Server FAM117B_000026 3/12932 3/8586 0/4346
?/? c.1104+42A>C r.(=) p.(=) g.203620446A>C Copied from the Exome Variant Server FAM117B_000028 3/12920 0/8584 3/4336
?/? c.1105-34T>C r.(=) p.(=) g.203621902T>C Copied from the Exome Variant Server FAM117B_000030 71/12996 0/8596 71/4400
?/? c.1106C>T r.(?) p.(Pro369Leu) g.203621937C>T Copied from the Exome Variant Server FAM117B_000032 1/13006 1/8600 0/4406
?/? c.1139C>G r.(?) p.(Pro380Arg) g.203621970C>G Copied from the Exome Variant Server FAM117B_000034 1/13006 0/8600 1/4406
?/? c.1143C>T r.(=) p.(=) g.203621974C>T Copied from the Exome Variant Server FAM117B_000019 1/13006 0/8600 1/4406
?/? c.1197G>A r.(=) p.(=) g.203622028G>A Copied from the Exome Variant Server FAM117B_000021 59/13006 0/8600 59/4406
?/? c.1212C>T r.(=) p.(=) g.203622043C>T Copied from the Exome Variant Server FAM117B_000023 1/13006 0/8600 1/4406
?/? c.1212_1214del r.(?) p.(Asn406del) g.203622043_203622045del Copied from the Exome Variant Server FAM117B_000025 43/12520 28/8254 15/4266
?/? c.1226G>A r.(?) p.(Arg409His) g.203622057G>A Copied from the Exome Variant Server FAM117B_000027 2/13006 2/8600 0/4406
?/? c.1242C>T r.(=) p.(=) g.203622073C>T Copied from the Exome Variant Server FAM117B_000029 1/13006 0/8600 1/4406
?/? c.1251G>A r.(=) p.(=) g.203622082G>A Copied from the Exome Variant Server FAM117B_000031 1/13006 1/8600 0/4406
?/? c.1268A>G r.(?) p.(Asn423Ser) g.203622099A>G Copied from the Exome Variant Server FAM117B_000033 2/13006 1/8600 1/4406
?/? c.1275T>C r.(=) p.(=) g.203622106T>C Copied from the Exome Variant Server FAM117B_000035 16/13006 0/8600 16/4406
?/? c.1278C>T r.(=) p.(=) g.203622109C>T Copied from the Exome Variant Server FAM117B_000036 73/13006 0/8600 73/4406
?/? c.1279G>A r.(?) p.(Glu427Lys) g.203622110G>A Copied from the Exome Variant Server FAM117B_000037 1/13006 1/8600 0/4406
?/? c.1330+4C>T r.spl? p.? g.203622165C>T Copied from the Exome Variant Server FAM117B_000039 1/13006 1/8600 0/4406
?/? c.1330+24A>G r.(=) p.(=) g.203622185A>G Copied from the Exome Variant Server FAM117B_000042 2/13006 2/8600 0/4406
?/? c.1330+26T>C r.(=) p.(=) g.203622187T>C Copied from the Exome Variant Server FAM117B_000044 2/13006 2/8600 0/4406
?/? c.1330+46C>A r.(=) p.(=) g.203622207C>A Copied from the Exome Variant Server FAM117B_000046 1/13006 1/8600 0/4406
?/? c.1331-37A>G r.(=) p.(=) g.203623919A>G Copied from the Exome Variant Server FAM117B_000048 1/13006 1/8600 0/4406
?/? c.1331-33T>A r.(=) p.(=) g.203623923T>A Copied from the Exome Variant Server FAM117B_000050 1/13006 1/8600 0/4406
?/? c.1347T>G r.(=) p.(=) g.203623972T>G Copied from the Exome Variant Server FAM117B_000052 1/13006 1/8600 0/4406
?/? c.1362T>C r.(=) p.(=) g.203623987T>C Copied from the Exome Variant Server FAM117B_000053 4/13006 0/8600 4/4406
?/? c.1434A>G r.(=) p.(=) g.203624059A>G Copied from the Exome Variant Server FAM117B_000055 1/13006 1/8600 0/4406
?/? c.1451+21C>T r.(=) p.(=) g.203624097C>T Copied from the Exome Variant Server FAM117B_000057 12/13006 0/8600 12/4406
?/? c.1451+35T>C r.(=) p.(=) g.203624111T>C Copied from the Exome Variant Server FAM117B_000059 1/13006 1/8600 0/4406
?/? c.1451+39A>G r.(=) p.(=) g.203624115A>G Copied from the Exome Variant Server FAM117B_000061 1/13006 0/8600 1/4406
?/? c.1451+40T>C r.(=) p.(=) g.203624116T>C Copied from the Exome Variant Server FAM117B_000062 1/13006 1/8600 0/4406
?/? c.1451+43G>A r.(=) p.(=) g.203624119G>A Copied from the Exome Variant Server FAM117B_000063 1/13006 1/8600 0/4406
?/? c.1451+45del r.(=) p.(=) g.203624121del Copied from the Exome Variant Server FAM117B_000040 555/12520 368/8254 187/4266
?/? c.1451+45dup r.(=) p.(=) g.203624121dup Copied from the Exome Variant Server FAM117B_000038 187/12520 127/8254 60/4266
?/? c.1452-10C>G r.(=) p.(=) g.203630159C>G Copied from the Exome Variant Server FAM117B_000041 1/13006 1/8600 0/4406
?/? c.1461G>A r.(=) p.(=) g.203630178G>A Copied from the Exome Variant Server FAM117B_000043 1/13006 0/8600 1/4406
?/? c.1548C>T r.(=) p.(=) g.203630265C>T Copied from the Exome Variant Server FAM117B_000045 1/13006 0/8600 1/4406
?/? c.1575G>T r.(=) p.(=) g.203630292G>T Copied from the Exome Variant Server FAM117B_000047 1/13006 1/8600 0/4406
?/? c.1611A>C r.(=) p.(=) g.203630328A>C Copied from the Exome Variant Server FAM117B_000049 1/13006 0/8600 1/4406
?/? c.1675A>C r.(?) p.(Thr559Pro) g.203630392A>C Copied from the Exome Variant Server FAM117B_000051 1/13006 0/8600 1/4406
?/? c.1750A>G r.(?) p.(Ile584Val) g.203630467A>G Copied from the Exome Variant Server FAM117B_000054 1/13006 0/8600 1/4406
?/? c.1751T>C r.(?) p.(Ile584Thr) g.203630468T>C Copied from the Exome Variant Server FAM117B_000056 1/13006 0/8600 1/4406
?/? c.*13C>T r.(=) p.(=) g.203630500C>T Copied from the Exome Variant Server FAM117B_000058 1/13006 0/8600 1/4406
?/? c.*34T>C r.(=) p.(=) g.203630521T>C Copied from the Exome Variant Server FAM117B_000060 2/13006 0/8600 2/4406
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