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  Search Results: 221 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).



p.Leu321Serfs*45 (Legacy AA No. 261)
Variant Type:
Deletion
Domain:
Serine Protease
Sequence Context:
delC
Variant Effect:
Frameshift
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 9

Patient Information : Show

p.Cys322Ser (Legacy AA No. 262)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TCC > TGC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Leu323Arg (Legacy AA No. 263)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CGG > CTG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Glu325Lys (Legacy AA No. 265)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Ser329Pro (Legacy AA No. 269)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CCT > TCT
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Thr332Met (Legacy AA No. 272)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
ACG > ATG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Val336Cysfs*30 (Legacy AA No. 276)
Variant Type:
Deletion
Domain:
Serine Protease
Sequence Context:
delG
Variant Effect:
Frameshift
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 9

Patient Information : Show

p.Arg337Cys (Legacy AA No. 277)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Arg337His (Legacy AA No. 277)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CAC > CGC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
7
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Val341Phe (Legacy AA No. 281)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GTC > TTC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
15
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Ser342Arg (Legacy AA No. 282)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
AGC > AGG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Gly343Ser (Legacy AA No. 283)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GGC > AGC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
10
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Trp344Arg (Legacy AA No. 284)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CGG > TGG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Gly345Ser (Legacy AA No. 285)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GGC > AGC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Arg350Cys (Legacy AA No. 290)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TGT > CGT
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Arg350Valfs*16 (Legacy AA No. 290)
Variant Type:
Deletion
Domain:
Serine Protease
Sequence Context:
delC
Variant Effect:
Frameshift
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 9

Patient Information : Show

p.Ala354Val (Legacy AA No. 294)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GCC > GTC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
99
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Leu357Phe (Legacy AA No. 297)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TTC > CTC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

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p.Met358Val (Legacy AA No. 298)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Met358Ile (Legacy AA No. 298)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
22
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Leu360Pro (Legacy AA No. 300)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CTC > CCC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Pro363Thr (Legacy AA No. 303)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CCC > ACC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Pro363Arg (Legacy AA No. 303)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CCC > CGC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Arg364Trp (Legacy AA No. 304)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CGG > TGG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Arg364Gln (Legacy AA No. 304)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CGG > CAG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
59
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Met366Val (Legacy AA No. 306)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Cys370Phe (Legacy AA No. 310)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
38
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Arg375Trp (Legacy AA No. 315)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Thr384Met (Legacy AA No. 324)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Met387Val (Legacy AA No. 327)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Met387_Tyr392del (Legacy AA No. 327)
Variant Type:
Deletion
Domain:
Serine Protease
Sequence Context:
Variant Effect:
Inframe
Location:
Exon (9)
No of bases:
0
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of the variant at Exon 9

Patient Information : Show

p.Met387Ile (Legacy AA No. 327)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
ATG > ATT
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Phe388Cys (Legacy AA No. 328)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Phe388Ser (Legacy AA No. 328)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TTC > TCC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Phe388Tyr (Legacy AA No. 328)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TAC > TTC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Cys389Arg (Legacy AA No. 329)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TGT > CGT
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Cys389Gly (Legacy AA No. 329)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TGT > GGT
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
14
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Gly391Cys (Legacy AA No. 331)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TGC > GGC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Gly391Ser (Legacy AA No. 331)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GGC > AGC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
13
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Gly391Asp (Legacy AA No. 331)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GGC > GAC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Ser393= (Legacy AA No. 333)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TCG > TCA
Variant Effect:
Silent
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Silent) of the variant at Exon 9

Patient Information : Show

p.Asp398Glu (Legacy AA No. 338)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAG > GAC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Ser399Cys (Legacy AA No. 339)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TCC > TGC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Ser399Phe (Legacy AA No. 339)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TTC > TCC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Gly402Arg (Legacy AA No. 342)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GGG > AGG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Gly402Glu (Legacy AA No. 342)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GGG > GAG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Asp403Asn (Legacy AA No. 343)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAC > AAC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Asp403His (Legacy AA No. 343)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAC > CAC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.His408Arg (Legacy AA No. 348)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CAT > CGT
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.His408Gln (Legacy AA No. 348)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CAT > CAG
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
13
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Factor VII Variant Database