All transcript variants in gene SERPINB4

Information The variants shown are described using the NM_002974.2 transcript reference sequence.

106 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-12A>T r.(=) p.(=) g.61310823T>A Copied from the Exome Variant Server SERPINB4_000106 2/13000 1/8594 1/4406
?/? c.-10C>T r.(=) p.(=) g.61310821G>A Copied from the Exome Variant Server SERPINB4_000105 38/13000 36/8594 2/4406
?/? c.14G>A r.(?) p.(Ser5Asn) g.61310798C>T Copied from the Exome Variant Server SERPINB4_000104 1/13006 1/8600 0/4406
?/? c.74A>G r.(?) p.(Asn25Ser) g.61310738T>C Copied from the Exome Variant Server SERPINB4_000103 676/13006 13/8600 663/4406
?/? c.105A>G r.(=) p.(=) g.61310707T>C Copied from the Exome Variant Server SERPINB4_000102 1/13000 0/8594 1/4406
?/? c.127T>C r.(=) p.(=) g.61310685A>G Copied from the Exome Variant Server SERPINB4_000101 3/13006 0/8600 3/4406
?/? c.156A>G r.(=) p.(=) g.61310656T>C Copied from the Exome Variant Server SERPINB4_000100 1/13006 0/8600 1/4406
?/? c.160A>T r.(?) p.(Ser54Cys) g.61310652T>A Copied from the Exome Variant Server SERPINB4_000099 1/13006 1/8600 0/4406
?/? c.165+7A>T r.(=) p.(=) g.61310640T>A Copied from the Exome Variant Server SERPINB4_000098 1/13006 0/8600 1/4406
?/? c.165+11G>A r.(=) p.(=) g.61310636C>T Copied from the Exome Variant Server SERPINB4_000097 1/13006 1/8600 0/4406
?/? c.165+20C>T r.(=) p.(=) g.61310627G>A Copied from the Exome Variant Server SERPINB4_000096 47/13006 16/8600 31/4406
?/? c.165+21G>A r.(=) p.(=) g.61310626C>T Copied from the Exome Variant Server SERPINB4_000095 1/13006 1/8600 0/4406
?/? c.165+26C>G r.(=) p.(=) g.61310621G>C Copied from the Exome Variant Server SERPINB4_000094 1/13006 1/8600 0/4406
?/? c.165+48_165+49insT r.(=) p.(=) g.61310598_61310599insA Copied from the Exome Variant Server SERPINB4_000093 1/12518 1/8254 0/4264
?/? c.165+51G>A r.(=) p.(=) g.61310596C>T Copied from the Exome Variant Server SERPINB4_000092 100/13006 1/8600 99/4406
?/? c.166-61C>A r.(=) p.(=) g.61310512G>T Copied from the Exome Variant Server SERPINB4_000091 1/4566 1/3182 0/1384
?/? c.193A>T r.(?) p.(Asn65Tyr) g.61310424T>A Copied from the Exome Variant Server SERPINB4_000090 26/13006 22/8600 4/4406
?/? c.215C>T r.(?) p.(Thr72Ile) g.61310402G>A Copied from the Exome Variant Server SERPINB4_000089 1/13006 1/8600 0/4406
?/? c.216A>G r.(=) p.(=) g.61310401T>C Copied from the Exome Variant Server SERPINB4_000088 1/13006 0/8600 1/4406
?/? c.218A>G r.(?) p.(Tyr73Cys) g.61310399T>C Copied from the Exome Variant Server SERPINB4_000087 1/13006 1/8600 0/4406
?/? c.222+21G>A r.(=) p.(=) g.61310374C>T Copied from the Exome Variant Server SERPINB4_000086 2070/13006 1788/8600 282/4406
?/? c.222+31A>C r.(=) p.(=) g.61310364T>G Copied from the Exome Variant Server SERPINB4_000085 1/13006 1/8600 0/4406
?/? c.222+38T>C r.(=) p.(=) g.61310357A>G Copied from the Exome Variant Server SERPINB4_000084 75/13006 7/8600 68/4406
?/? c.222+48A>G r.(=) p.(=) g.61310347T>C Copied from the Exome Variant Server SERPINB4_000083 2/13006 0/8600 2/4406
?/? c.223-42T>C r.(=) p.(=) g.61309164A>G Copied from the Exome Variant Server SERPINB4_000082 4/13004 3/8600 1/4404
?/? c.223-22T>C r.(=) p.(=) g.61309144A>G Copied from the Exome Variant Server SERPINB4_000081 1/13004 0/8600 1/4404
?/? c.223-17C>T r.(=) p.(=) g.61309139G>A Copied from the Exome Variant Server SERPINB4_000080 791/13006 733/8600 58/4406
?/? c.228_229insTGAT r.(?) p.(Arg77*) g.61309116_61309117insATCA Copied from the Exome Variant Server SERPINB4_000079 2/12516 0/8252 2/4264
?/? c.288T>A r.(=) p.(=) g.61309057A>T Copied from the Exome Variant Server SERPINB4_000078 1/13002 0/8596 1/4406
?/? c.310G>A r.(?) p.(Ala104Thr) g.61309035C>T Copied from the Exome Variant Server SERPINB4_000077 2/13006 2/8600 0/4406
?/? c.324C>T r.(=) p.(=) g.61309021G>A Copied from the Exome Variant Server SERPINB4_000076 1/13006 1/8600 0/4406
?/? c.351+25T>C r.(=) p.(=) g.61308969A>G Copied from the Exome Variant Server SERPINB4_000075 1/13006 1/8600 0/4406
?/? c.351+30T>C r.(=) p.(=) g.61308964A>G Copied from the Exome Variant Server SERPINB4_000074 1/13006 1/8600 0/4406
?/? c.351+31T>C r.(=) p.(=) g.61308963A>G Copied from the Exome Variant Server SERPINB4_000073 719/13006 13/8600 706/4406
?/? c.351+36T>G r.(=) p.(=) g.61308958A>C Copied from the Exome Variant Server SERPINB4_000072 723/13002 13/8596 710/4406
?/? c.352-48G>C r.(=) p.(=) g.61308273C>G Copied from the Exome Variant Server SERPINB4_000071 1/12998 1/8592 0/4406
?/? c.352-33C>T r.(=) p.(=) g.61308258G>A Copied from the Exome Variant Server SERPINB4_000070 2/13006 0/8600 2/4406
?/? c.352-8T>C r.(=) p.(=) g.61308233A>G Copied from the Exome Variant Server SERPINB4_000069 25/13006 0/8600 25/4406
?/? c.430C>T r.(?) p.(Arg144*) g.61308147G>A Copied from the Exome Variant Server SERPINB4_000068 2/13006 1/8600 1/4406
?/? c.444C>T r.(=) p.(=) g.61308133G>A Copied from the Exome Variant Server SERPINB4_000067 2/13002 1/8596 1/4406
?/? c.465G>A r.(=) p.(=) g.61308112C>T Copied from the Exome Variant Server SERPINB4_000066 1/13000 1/8596 0/4404
?/? c.469+6A>G r.(=) p.(=) g.61308102T>C Copied from the Exome Variant Server SERPINB4_000065 9/13004 7/8600 2/4404
?/? c.469+34A>G r.(=) p.(=) g.61308074T>C Copied from the Exome Variant Server SERPINB4_000063 1/13006 1/8600 0/4406
?/? c.469+52G>A r.(=) p.(=) g.61308056C>T Copied from the Exome Variant Server SERPINB4_000061 3/5734 0/3982 3/1752
?/? c.470-31G>A r.(=) p.(=) g.61307041C>T Copied from the Exome Variant Server SERPINB4_000064 1/12996 0/8592 1/4404
?/? c.470-30T>C r.(=) p.(=) g.61307040A>G Copied from the Exome Variant Server SERPINB4_000062 2/12996 2/8592 0/4404
?/? c.470-18_470-17del r.(=) p.(=) g.61307027_61307028del Copied from the Exome Variant Server SERPINB4_000060 1/12516 1/8252 0/4264
?/? c.475A>T r.(?) p.(Ile159Phe) g.61307005T>A Copied from the Exome Variant Server SERPINB4_000059 16/13004 0/8600 16/4404
?/? c.485T>C r.(?) p.(Leu162Pro) g.61306995A>G Copied from the Exome Variant Server SERPINB4_000058 2/13004 0/8600 2/4404
?/? c.503T>C r.(?) p.(Ile168Thr) g.61306977A>G Copied from the Exome Variant Server SERPINB4_000057 1/13004 0/8600 1/4404
?/? c.515C>T r.(?) p.(Thr172Met) g.61306965G>A Copied from the Exome Variant Server SERPINB4_000056 3/13004 0/8600 3/4404
?/? c.520del r.(?) p.(Leu174Trpfs*4) g.61306960del Copied from the Exome Variant Server SERPINB4_000055 12/12518 11/8254 1/4264
?/? c.553C>G r.(?) p.(Gln185Glu) g.61306927G>C Copied from the Exome Variant Server SERPINB4_000054 2/13004 0/8600 2/4404
?/? c.564T>G r.(?) p.(Asn188Lys) g.61306916A>C Copied from the Exome Variant Server SERPINB4_000053 1/13004 0/8600 1/4404
?/? c.583A>G r.(?) p.(Thr195Ala) g.61306897T>C Copied from the Exome Variant Server SERPINB4_000052 1/12994 0/8594 1/4400
?/? c.603G>A r.(?) p.(Trp201*) g.61306877C>T Copied from the Exome Variant Server SERPINB4_000051 12/12988 0/8592 12/4396
?/? c.612+5T>A r.spl? p.? g.61306863A>T Copied from the Exome Variant Server SERPINB4_000050 1/12972 0/8586 1/4386
?/? c.612+40T>C r.(=) p.(=) g.61306828A>G Copied from the Exome Variant Server SERPINB4_000049 1/12846 1/8524 0/4322
?/? c.612+44T>C r.(=) p.(=) g.61306824A>G Copied from the Exome Variant Server SERPINB4_000048 12/12830 0/8514 12/4316
?/? c.613-42G>A r.(=) p.(=) g.61306616C>T Copied from the Exome Variant Server SERPINB4_000047 3/13002 3/8600 0/4402
?/? c.613-34C>T r.(=) p.(=) g.61306608G>A Copied from the Exome Variant Server SERPINB4_000046 1/13004 1/8600 0/4404
?/? c.613-20G>T r.(=) p.(=) g.61306594C>A Copied from the Exome Variant Server SERPINB4_000045 1/13006 0/8600 1/4406
?/? c.613-3C>T r.spl? p.? g.61306577G>A Copied from the Exome Variant Server SERPINB4_000044 1/13006 0/8600 1/4406
?/? c.613-2A>G r.spl? p.? g.61306576T>C Copied from the Exome Variant Server SERPINB4_000043 1/13006 1/8600 0/4406
?/? c.636G>T r.(?) p.(Met212Ile) g.61306551C>A Copied from the Exome Variant Server SERPINB4_000042 1/13006 1/8600 0/4406
?/? c.642G>A r.(=) p.(=) g.61306545C>T Copied from the Exome Variant Server SERPINB4_000041 1/13006 1/8600 0/4406
?/? c.644A>G r.(?) p.(Gln215Arg) g.61306543T>C Copied from the Exome Variant Server SERPINB4_000040 1/13006 0/8600 1/4406
?/? c.645A>G r.(=) p.(=) g.61306542T>C Copied from the Exome Variant Server SERPINB4_000039 3/13006 1/8600 2/4406
?/? c.685G>C r.(?) p.(Ala229Pro) g.61306502C>G Copied from the Exome Variant Server SERPINB4_000038 2/13006 2/8600 0/4406
?/? c.754G>A r.(?) p.(Asp252Asn) g.61306433C>T Copied from the Exome Variant Server SERPINB4_000037 1/13006 0/8600 1/4406
?/? c.762G>C r.(=) p.(=) g.61306425C>G Copied from the Exome Variant Server SERPINB4_000036 31/13006 0/8600 31/4406
?/? c.766A>C r.(?) p.(Lys256Gln) g.61306421T>G Copied from the Exome Variant Server SERPINB4_000035 1/13006 1/8600 0/4406
?/? c.768+1G>C r.spl? p.? g.61306418C>G Copied from the Exome Variant Server SERPINB4_000034 1/13006 1/8600 0/4406
?/? c.768+24T>C r.(=) p.(=) g.61306395A>G Copied from the Exome Variant Server SERPINB4_000033 1/13006 0/8600 1/4406
?/? c.768+26C>T r.(=) p.(=) g.61306393G>A Copied from the Exome Variant Server SERPINB4_000032 2/13006 0/8600 2/4406
?/? c.768+37C>T r.(=) p.(=) g.61306382G>A Copied from the Exome Variant Server SERPINB4_000031 1/13006 1/8600 0/4406
?/? c.768+51A>G r.(=) p.(=) g.61306368T>C Copied from the Exome Variant Server SERPINB4_000030 1/13006 1/8600 0/4406
?/? c.769-40G>A r.(=) p.(=) g.61305397C>T Copied from the Exome Variant Server SERPINB4_000029 2/13004 1/8600 1/4404
?/? c.769-23G>C r.(=) p.(=) g.61305380C>G Copied from the Exome Variant Server SERPINB4_000028 1/13004 0/8600 1/4404
?/? c.769-16T>C r.(=) p.(=) g.61305373A>G Copied from the Exome Variant Server SERPINB4_000027 2/13006 0/8600 2/4406
?/? c.769-11del r.(=) p.(=) g.61305368del Copied from the Exome Variant Server SERPINB4_000026 2/12518 2/8254 0/4264
?/? c.788C>T r.(?) p.(Ala263Val) g.61305338G>A Copied from the Exome Variant Server SERPINB4_000025 1/13002 0/8596 1/4406
?/? c.816G>A r.(=) p.(=) g.61305310C>T Copied from the Exome Variant Server SERPINB4_000024 3/13006 0/8600 3/4406
?/? c.817C>A r.(?) p.(Gln273Lys) g.61305309G>T Copied from the Exome Variant Server SERPINB4_000023 3/13006 0/8600 3/4406
?/? c.834_835del r.(?) p.(Val280Argfs*14) g.61305291_61305292del Copied from the Exome Variant Server SERPINB4_000022 1/12516 0/8254 1/4262
?/? c.856C>T r.(?) p.(Arg286Trp) g.61305270G>A Copied from the Exome Variant Server SERPINB4_000021 2/13006 2/8600 0/4406
?/? c.857G>A r.(?) p.(Arg286Gln) g.61305269C>T Copied from the Exome Variant Server SERPINB4_000020 1/13006 0/8600 1/4406
?/? c.865A>C r.(?) p.(Met289Leu) g.61305261T>G Copied from the Exome Variant Server SERPINB4_000019 2/13006 2/8600 0/4406
?/? c.882C>A r.(?) p.(Asp294Glu) g.61305244G>T Copied from the Exome Variant Server SERPINB4_000018 1/13006 1/8600 0/4406
?/? c.884T>A r.(?) p.(Leu295His) g.61305242A>T Copied from the Exome Variant Server SERPINB4_000017 1/13006 1/8600 0/4406
?/? c.893C>G r.(?) p.(Thr298Arg) g.61305233G>C Copied from the Exome Variant Server SERPINB4_000016 1/13006 0/8600 1/4406
?/? c.916A>C r.(?) p.(Asn306His) g.61305210T>G Copied from the Exome Variant Server SERPINB4_000015 2/13006 2/8600 0/4406
?/? c.917A>G r.(?) p.(Asn306Ser) g.61305209T>C Copied from the Exome Variant Server SERPINB4_000014 4/13006 3/8600 1/4406
?/? c.930G>A r.(=) p.(=) g.61305196C>T Copied from the Exome Variant Server SERPINB4_000013 8/13006 0/8600 8/4406
?/? c.968T>C r.(?) p.(Leu323Pro) g.61305158A>G Copied from the Exome Variant Server SERPINB4_000012 1/13006 0/8600 1/4406
?/? c.974T>C r.(?) p.(Val325Ala) g.61305152A>G Copied from the Exome Variant Server SERPINB4_000011 1/13006 1/8600 0/4406
?/? c.975A>G r.(=) p.(=) g.61305151T>C Copied from the Exome Variant Server SERPINB4_000010 3/13006 3/8600 0/4406
?/? c.990C>T r.(=) p.(=) g.61305136G>A Copied from the Exome Variant Server SERPINB4_000009 1/13006 0/8600 1/4406
?/? c.994G>A r.(?) p.(Ala332Thr) g.61305132C>T Copied from the Exome Variant Server SERPINB4_000008 2/13006 2/8600 0/4406
?/? c.1012G>A r.(?) p.(Glu338Lys) g.61305114C>T Copied from the Exome Variant Server SERPINB4_000007 2/13006 0/8600 2/4406
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