SNP Links for Protein (Select 15208656) - SNP

Links from Protein

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Select item 14886593111.

rs1488659311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:510839 (GRCh38)
7:550476 (GRCh37)
Canonical SPDI:: NC_000007.14:510838:C:G
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.510839C>G, NC_000007.13:g.550476C>G, NG_029727.1:g.14006G>C, NM_002607.6:c.423G>C, NM_002607.5:c.423G>C, NM_033023.5:c.423G>C, NM_033023.4:c.423G>C, NR_172527.1:n.1264G>C, NM_001395363.1:c.558G>C, NM_001395366.1:c.423G>C, NM_001395365.1:c.432G>C, NR_172526.1:n.627G>C, NM_001395364.1:c.462G>C, XM_011515419.4:c.420G>C, XM_011515419.3:c.420G>C, XM_011515419.2:c.420G>C, XM_011515419.1:c.420G>C, XM_011515416.2:c.537G>C, XM_011515416.1:c.537G>C, XM_011515415.2:c.558G>C, XM_011515415.1:c.558G>C, XM_011515418.2:c.537G>C, XM_011515418.1:c.537G>C, XM_017012289.2:c.462G>C, XM_017012289.1:c.462G>C, XM_047420457.1:c.423G>C, XM_047420455.1:c.465G>C, XM_047420456.1:c.432G>C, XM_047420458.1:c.420G>C, NP_002598.4:p.Gln141His, NP_148983.1:p.Gln141His, NP_001382292.1:p.Gln186His, NP_001382295.1:p.Gln141His, NP_001382294.1:p.Gln144His, NP_001382293.1:p.Gln154His, XP_011513721.1:p.Gln140His, XP_011513718.1:p.Gln179His, XP_011513717.1:p.Gln186His, XP_011513720.1:p.Gln179His, XP_016867778.1:p.Gln154His, XP_047276413.1:p.Gln141His, XP_047276411.1:p.Gln155His, XP_047276412.1:p.Gln144His, XP_047276414.1:p.Gln140His

Select item 14846288772.

rs1484628877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:517417 (GRCh38)
7:557054 (GRCh37)
Canonical SPDI:: NC_000007.14:517416:C:T
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.517417C>T, NC_000007.13:g.557054C>T, NG_029727.1:g.7428G>A, NM_002607.6:c.137G>A, NM_002607.5:c.137G>A, NM_033023.5:c.137G>A, NM_033023.4:c.137G>A, NR_172527.1:n.982G>A, NM_001395363.1:c.276G>A, NM_001395366.1:c.137G>A, NM_001395365.1:c.146G>A, NR_172526.1:n.341G>A, NM_001395364.1:c.176G>A, XM_011515419.4:c.134G>A, XM_011515419.3:c.134G>A, XM_011515419.2:c.134G>A, XM_011515419.1:c.134G>A, XM_011515416.2:c.251G>A, XM_011515416.1:c.251G>A, XM_011515415.2:c.276G>A, XM_011515415.1:c.276G>A, XM_011515418.2:c.251G>A, XM_011515418.1:c.251G>A, XM_017012289.2:c.176G>A, XM_017012289.1:c.176G>A, XM_047420457.1:c.137G>A, XM_047420456.1:c.146G>A, XM_047420458.1:c.134G>A, NP_002598.4:p.Arg46Gln, NP_148983.1:p.Arg46Gln, NP_001382295.1:p.Arg46Gln, NP_001382294.1:p.Arg49Gln, NP_001382293.1:p.Arg59Gln, XP_011513721.1:p.Arg45Gln, XP_011513718.1:p.Arg84Gln, XP_011513720.1:p.Arg84Gln, XP_016867778.1:p.Arg59Gln, XP_047276413.1:p.Arg46Gln, XP_047276412.1:p.Arg49Gln, XP_047276414.1:p.Arg45Gln

Select item 14823043223.

rs1482304322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:518993 (GRCh38)
7:558630 (GRCh37)
Canonical SPDI:: NC_000007.14:518992:G:T
Gene:: PDGFA (Varview), PDGFA-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.518993G>T, NC_000007.13:g.558630G>T, NG_029727.1:g.5852C>A, NM_002607.6:c.9C>A, NM_002607.5:c.9C>A, NM_033023.5:c.9C>A, NM_033023.4:c.9C>A, NR_172527.1:n.854C>A, NM_001395363.1:c.148C>A, NM_001395366.1:c.9C>A, XM_011515416.2:c.123C>A, XM_011515416.1:c.123C>A, XM_011515415.2:c.148C>A, XM_011515415.1:c.148C>A, XM_011515418.2:c.123C>A, XM_011515418.1:c.123C>A, XM_047420457.1:c.9C>A, XM_047420455.1:c.148C>A, NP_001382292.1:p.Leu50Ile, XP_011513717.1:p.Leu50Ile, XP_047276411.1:p.Leu50Ile

Select item 14782795364.

rs1478279536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:501122 (GRCh38)
7:540759 (GRCh37)
Canonical SPDI:: NC_000007.14:501121:C:T
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.501122C>T, NC_000007.13:g.540759C>T, NG_029727.1:g.23723G>A, NM_002607.6:c.574G>A, NM_002607.5:c.574G>A, NM_033023.5:c.574G>A, NM_033023.4:c.574G>A, NR_172527.1:n.1415G>A, NM_001395363.1:c.709G>A, NM_001395366.1:c.574G>A, NM_001395365.1:c.583G>A, NR_172526.1:n.778G>A, NM_001395364.1:c.613G>A, XM_011515419.4:c.571G>A, XM_011515419.3:c.571G>A, XM_011515419.2:c.571G>A, XM_011515419.1:c.571G>A, XM_011515416.2:c.688G>A, XM_011515416.1:c.688G>A, XM_011515415.2:c.709G>A, XM_011515415.1:c.709G>A, XM_011515418.2:c.688G>A, XM_011515418.1:c.688G>A, XM_017012289.2:c.613G>A, XM_017012289.1:c.613G>A, XM_047420457.1:c.574G>A, XM_047420455.1:c.616G>A, XM_047420456.1:c.583G>A, XM_047420458.1:c.571G>A, NP_002598.4:p.Asp192Asn, NP_148983.1:p.Asp192Asn, NP_001382292.1:p.Asp237Asn, NP_001382295.1:p.Asp192Asn, NP_001382294.1:p.Asp195Asn, NP_001382293.1:p.Asp205Asn, XP_011513721.1:p.Asp191Asn, XP_011513718.1:p.Asp230Asn, XP_011513717.1:p.Asp237Asn, XP_011513720.1:p.Asp230Asn, XP_016867778.1:p.Asp205Asn, XP_047276413.1:p.Asp192Asn, XP_047276411.1:p.Asp206Asn, XP_047276412.1:p.Asp195Asn, XP_047276414.1:p.Asp191Asn

Select item 14741125335.

rs1474112533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:510902 (GRCh38)
7:550539 (GRCh37)
Canonical SPDI:: NC_000007.14:510901:C:A,NC_000007.14:510901:C:T
Gene:: PDGFA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.510902C>A, NC_000007.14:g.510902C>T, NC_000007.13:g.550539C>A, NC_000007.13:g.550539C>T, NG_029727.1:g.13943G>T, NG_029727.1:g.13943G>A, NM_002607.6:c.360G>T, NM_002607.6:c.360G>A, NM_002607.5:c.360G>T, NM_002607.5:c.360G>A, NM_033023.5:c.360G>T, NM_033023.5:c.360G>A, NM_033023.4:c.360G>T, NM_033023.4:c.360G>A, NR_172527.1:n.1201G>T, NR_172527.1:n.1201G>A, NM_001395363.1:c.495G>T, NM_001395363.1:c.495G>A, NM_001395366.1:c.360G>T, NM_001395366.1:c.360G>A, NM_001395365.1:c.369G>T, NM_001395365.1:c.369G>A, NR_172526.1:n.564G>T, NR_172526.1:n.564G>A, NM_001395364.1:c.399G>T, NM_001395364.1:c.399G>A, XM_011515419.4:c.357G>T, XM_011515419.4:c.357G>A, XM_011515419.3:c.357G>T, XM_011515419.3:c.357G>A, XM_011515419.2:c.357G>T, XM_011515419.2:c.357G>A, XM_011515419.1:c.357G>T, XM_011515419.1:c.357G>A, XM_011515416.2:c.474G>T, XM_011515416.2:c.474G>A, XM_011515416.1:c.474G>T, XM_011515416.1:c.474G>A, XM_011515415.2:c.495G>T, XM_011515415.2:c.495G>A, XM_011515415.1:c.495G>T, XM_011515415.1:c.495G>A, XM_011515418.2:c.474G>T, XM_011515418.2:c.474G>A, XM_011515418.1:c.474G>T, XM_011515418.1:c.474G>A, XM_017012289.2:c.399G>T, XM_017012289.2:c.399G>A, XM_017012289.1:c.399G>T, XM_017012289.1:c.399G>A, XM_047420457.1:c.360G>T, XM_047420457.1:c.360G>A, XM_047420455.1:c.402G>T, XM_047420455.1:c.402G>A, XM_047420456.1:c.369G>T, XM_047420456.1:c.369G>A, XM_047420458.1:c.357G>T, XM_047420458.1:c.357G>A, NP_002598.4:p.Trp120Cys, NP_002598.4:p.Trp120Ter, NP_148983.1:p.Trp120Cys, NP_148983.1:p.Trp120Ter, NP_001382292.1:p.Trp165Cys, NP_001382292.1:p.Trp165Ter, NP_001382295.1:p.Trp120Cys, NP_001382295.1:p.Trp120Ter, NP_001382294.1:p.Trp123Cys, NP_001382294.1:p.Trp123Ter, NP_001382293.1:p.Trp133Cys, NP_001382293.1:p.Trp133Ter, XP_011513721.1:p.Trp119Cys, XP_011513721.1:p.Trp119Ter, XP_011513718.1:p.Trp158Cys, XP_011513718.1:p.Trp158Ter, XP_011513717.1:p.Trp165Cys, XP_011513717.1:p.Trp165Ter, XP_011513720.1:p.Trp158Cys, XP_011513720.1:p.Trp158Ter, XP_016867778.1:p.Trp133Cys, XP_016867778.1:p.Trp133Ter, XP_047276413.1:p.Trp120Cys, XP_047276413.1:p.Trp120Ter, XP_047276411.1:p.Trp134Cys, XP_047276411.1:p.Trp134Ter, XP_047276412.1:p.Trp123Cys, XP_047276412.1:p.Trp123Ter, XP_047276414.1:p.Trp119Cys, XP_047276414.1:p.Trp119Ter

Select item 14551900676.

rs1455190067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:501209 (GRCh38)
7:540846 (GRCh37)
Canonical SPDI:: NC_000007.14:501208:T:C
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.501209T>C, NC_000007.13:g.540846T>C, NG_029727.1:g.23636A>G, NM_002607.6:c.487A>G, NM_002607.5:c.487A>G, NM_033023.5:c.487A>G, NM_033023.4:c.487A>G, NR_172527.1:n.1328A>G, NM_001395363.1:c.622A>G, NM_001395366.1:c.487A>G, NM_001395365.1:c.496A>G, NR_172526.1:n.691A>G, NM_001395364.1:c.526A>G, XM_011515419.4:c.484A>G, XM_011515419.3:c.484A>G, XM_011515419.2:c.484A>G, XM_011515419.1:c.484A>G, XM_011515416.2:c.601A>G, XM_011515416.1:c.601A>G, XM_011515415.2:c.622A>G, XM_011515415.1:c.622A>G, XM_011515418.2:c.601A>G, XM_011515418.1:c.601A>G, XM_017012289.2:c.526A>G, XM_017012289.1:c.526A>G, XM_047420457.1:c.487A>G, XM_047420455.1:c.529A>G, XM_047420456.1:c.496A>G, XM_047420458.1:c.484A>G, NP_002598.4:p.Lys163Glu, NP_148983.1:p.Lys163Glu, NP_001382292.1:p.Lys208Glu, NP_001382295.1:p.Lys163Glu, NP_001382294.1:p.Lys166Glu, NP_001382293.1:p.Lys176Glu, XP_011513721.1:p.Lys162Glu, XP_011513718.1:p.Lys201Glu, XP_011513717.1:p.Lys208Glu, XP_011513720.1:p.Lys201Glu, XP_016867778.1:p.Lys176Glu, XP_047276413.1:p.Lys163Glu, XP_047276411.1:p.Lys177Glu, XP_047276412.1:p.Lys166Glu, XP_047276414.1:p.Lys162Glu

Select item 14524950437.

rs1452495043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:517415 (GRCh38)
7:557052 (GRCh37)
Canonical SPDI:: NC_000007.14:517414:G:A
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.517415G>A, NC_000007.13:g.557052G>A, NG_029727.1:g.7430C>T, NM_002607.6:c.139C>T, NM_002607.5:c.139C>T, NM_033023.5:c.139C>T, NM_033023.4:c.139C>T, NR_172527.1:n.984C>T, NM_001395363.1:c.278C>T, NM_001395366.1:c.139C>T, NM_001395365.1:c.148C>T, NR_172526.1:n.343C>T, NM_001395364.1:c.178C>T, XM_011515419.4:c.136C>T, XM_011515419.3:c.136C>T, XM_011515419.2:c.136C>T, XM_011515419.1:c.136C>T, XM_011515416.2:c.253C>T, XM_011515416.1:c.253C>T, XM_011515415.2:c.278C>T, XM_011515415.1:c.278C>T, XM_011515418.2:c.253C>T, XM_011515418.1:c.253C>T, XM_017012289.2:c.178C>T, XM_017012289.1:c.178C>T, XM_047420457.1:c.139C>T, XM_047420456.1:c.148C>T, XM_047420458.1:c.136C>T, NP_002598.4:p.Leu47Phe, NP_148983.1:p.Leu47Phe, NP_001382292.1:p.Thr93Ile, NP_001382295.1:p.Leu47Phe, NP_001382294.1:p.Leu50Phe, NP_001382293.1:p.Leu60Phe, XP_011513721.1:p.Leu46Phe, XP_011513718.1:p.Leu85Phe, XP_011513717.1:p.Thr93Ile, XP_011513720.1:p.Leu85Phe, XP_016867778.1:p.Leu60Phe, XP_047276413.1:p.Leu47Phe, XP_047276412.1:p.Leu50Phe, XP_047276414.1:p.Leu46Phe

Select item 14467003508.

rs1446700350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:510935 (GRCh38)
7:550572 (GRCh37)
Canonical SPDI:: NC_000007.14:510934:C:T
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.510935C>T, NC_000007.13:g.550572C>T, NG_029727.1:g.13910G>A, NM_002607.6:c.327G>A, NM_002607.5:c.327G>A, NM_033023.5:c.327G>A, NM_033023.4:c.327G>A, NR_172527.1:n.1168G>A, NM_001395363.1:c.462G>A, NM_001395366.1:c.327G>A, NM_001395365.1:c.336G>A, NR_172526.1:n.531G>A, NM_001395364.1:c.366G>A, XM_011515419.4:c.324G>A, XM_011515419.3:c.324G>A, XM_011515419.2:c.324G>A, XM_011515419.1:c.324G>A, XM_011515416.2:c.441G>A, XM_011515416.1:c.441G>A, XM_011515415.2:c.462G>A, XM_011515415.1:c.462G>A, XM_011515418.2:c.441G>A, XM_011515418.1:c.441G>A, XM_017012289.2:c.366G>A, XM_017012289.1:c.366G>A, XM_047420457.1:c.327G>A, XM_047420455.1:c.369G>A, XM_047420456.1:c.336G>A, XM_047420458.1:c.324G>A

Select item 14438347469.

rs1443834746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:517483 (GRCh38)
7:557120 (GRCh37)
Canonical SPDI:: NC_000007.14:517482:T:C
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.517483T>C, NC_000007.13:g.557120T>C, NG_029727.1:g.7362A>G, NM_002607.6:c.71A>G, NM_002607.5:c.71A>G, NM_033023.5:c.71A>G, NM_033023.4:c.71A>G, NR_172527.1:n.916A>G, NM_001395363.1:c.210A>G, NM_001395366.1:c.71A>G, NM_001395365.1:c.80A>G, NR_172526.1:n.275A>G, NM_001395364.1:c.110A>G, XM_011515419.4:c.68A>G, XM_011515419.3:c.68A>G, XM_011515419.2:c.68A>G, XM_011515419.1:c.68A>G, XM_011515416.2:c.185A>G, XM_011515416.1:c.185A>G, XM_011515415.2:c.210A>G, XM_011515415.1:c.210A>G, XM_011515418.2:c.185A>G, XM_011515418.1:c.185A>G, XM_017012289.2:c.110A>G, XM_017012289.1:c.110A>G, XM_047420457.1:c.71A>G, XM_047420456.1:c.80A>G, XM_047420458.1:c.68A>G, NP_002598.4:p.Glu24Gly, NP_148983.1:p.Glu24Gly, NP_001382295.1:p.Glu24Gly, NP_001382294.1:p.Glu27Gly, NP_001382293.1:p.Glu37Gly, XP_011513721.1:p.Glu23Gly, XP_011513718.1:p.Glu62Gly, XP_011513720.1:p.Glu62Gly, XP_016867778.1:p.Glu37Gly, XP_047276413.1:p.Glu24Gly, XP_047276412.1:p.Glu27Gly, XP_047276414.1:p.Glu23Gly

Select item 144199808810.

rs1441998088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:517404 (GRCh38)
7:557041 (GRCh37)
Canonical SPDI:: NC_000007.14:517403:T:C
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.517404T>C, NC_000007.13:g.557041T>C, NG_029727.1:g.7441A>G, NM_002607.6:c.150A>G, NM_002607.5:c.150A>G, NM_033023.5:c.150A>G, NM_033023.4:c.150A>G, NR_172527.1:n.995A>G, NM_001395363.1:c.289A>G, NM_001395366.1:c.150A>G, NM_001395365.1:c.159A>G, NR_172526.1:n.354A>G, NM_001395364.1:c.189A>G, XM_011515419.4:c.147A>G, XM_011515419.3:c.147A>G, XM_011515419.2:c.147A>G, XM_011515419.1:c.147A>G, XM_011515416.2:c.264A>G, XM_011515416.1:c.264A>G, XM_011515415.2:c.289A>G, XM_011515415.1:c.289A>G, XM_011515418.2:c.264A>G, XM_011515418.1:c.264A>G, XM_017012289.2:c.189A>G, XM_017012289.1:c.189A>G, XM_047420457.1:c.150A>G, XM_047420456.1:c.159A>G, XM_047420458.1:c.147A>G, NP_002598.4:p.Ile50Met, NP_148983.1:p.Ile50Met, NP_001382292.1:p.Arg97Gly, NP_001382295.1:p.Ile50Met, NP_001382294.1:p.Ile53Met, NP_001382293.1:p.Ile63Met, XP_011513721.1:p.Ile49Met, XP_011513718.1:p.Ile88Met, XP_011513717.1:p.Arg97Gly, XP_011513720.1:p.Ile88Met, XP_016867778.1:p.Ile63Met, XP_047276413.1:p.Ile50Met, XP_047276412.1:p.Ile53Met, XP_047276414.1:p.Ile49Met

Select item 143302161911.

rs1433021619 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:517475 (GRCh38)
7:557112 (GRCh37)
Canonical SPDI:: NC_000007.14:517474:GGGGG:GGGG
Gene:: PDGFA (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000007.14:g.517479del, NC_000007.13:g.557116del, NG_029727.1:g.7370del, NM_002607.6:c.79del, NM_002607.5:c.79del, NM_033023.5:c.79del, NM_033023.4:c.79del, NR_172527.1:n.924del, NM_001395363.1:c.218del, NM_001395366.1:c.79del, NM_001395365.1:c.88del, NR_172526.1:n.283del, NM_001395364.1:c.118del, XM_011515419.4:c.76del, XM_011515419.3:c.76del, XM_011515419.2:c.76del, XM_011515419.1:c.76del, XM_011515416.2:c.193del, XM_011515416.1:c.193del, XM_011515415.2:c.218del, XM_011515415.1:c.218del, XM_011515418.2:c.193del, XM_011515418.1:c.193del, XM_017012289.2:c.118del, XM_017012289.1:c.118del, XM_047420457.1:c.79del, XM_047420456.1:c.88del, XM_047420458.1:c.76del, NP_002598.4:p.Arg27fs, NP_148983.1:p.Arg27fs, NP_001382292.1:p.Pro73fs, NP_001382295.1:p.Arg27fs, NP_001382294.1:p.Arg30fs, NP_001382293.1:p.Arg40fs, XP_011513721.1:p.Arg26fs, XP_011513718.1:p.Arg65fs, XP_011513717.1:p.Pro73fs, XP_011513720.1:p.Arg65fs, XP_016867778.1:p.Arg40fs, XP_047276413.1:p.Arg27fs, XP_047276412.1:p.Arg30fs, XP_047276414.1:p.Arg26fs

Select item 142915911312.

rs1429159113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:512410 (GRCh38)
7:552047 (GRCh37)
Canonical SPDI:: NC_000007.14:512409:T:A,NC_000007.14:512409:T:C
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.512410T>A, NC_000007.14:g.512410T>C, NC_000007.13:g.552047T>A, NC_000007.13:g.552047T>C, NG_029727.1:g.12435A>T, NG_029727.1:g.12435A>G, NM_002607.6:c.206A>T, NM_002607.6:c.206A>G, NM_002607.5:c.206A>T, NM_002607.5:c.206A>G, NM_033023.5:c.206A>T, NM_033023.5:c.206A>G, NM_033023.4:c.206A>T, NM_033023.4:c.206A>G, NR_172527.1:n.1047A>T, NR_172527.1:n.1047A>G, NM_001395363.1:c.341A>T, NM_001395363.1:c.341A>G, NM_001395366.1:c.206A>T, NM_001395366.1:c.206A>G, NM_001395365.1:c.215A>T, NM_001395365.1:c.215A>G, NR_172526.1:n.410A>T, NR_172526.1:n.410A>G, NM_001395364.1:c.245A>T, NM_001395364.1:c.245A>G, XM_011515419.4:c.203A>T, XM_011515419.4:c.203A>G, XM_011515419.3:c.203A>T, XM_011515419.3:c.203A>G, XM_011515419.2:c.203A>T, XM_011515419.2:c.203A>G, XM_011515419.1:c.203A>T, XM_011515419.1:c.203A>G, XM_011515416.2:c.320A>T, XM_011515416.2:c.320A>G, XM_011515416.1:c.320A>T, XM_011515416.1:c.320A>G, XM_011515415.2:c.341A>T, XM_011515415.2:c.341A>G, XM_011515415.1:c.341A>T, XM_011515415.1:c.341A>G, XM_011515418.2:c.320A>T, XM_011515418.2:c.320A>G, XM_011515418.1:c.320A>T, XM_011515418.1:c.320A>G, XM_017012289.2:c.245A>T, XM_017012289.2:c.245A>G, XM_017012289.1:c.245A>T, XM_017012289.1:c.245A>G, XM_047420457.1:c.206A>T, XM_047420457.1:c.206A>G, XM_047420455.1:c.248A>T, XM_047420455.1:c.248A>G, XM_047420456.1:c.215A>T, XM_047420456.1:c.215A>G, XM_047420458.1:c.203A>T, XM_047420458.1:c.203A>G, NP_002598.4:p.His69Leu, NP_002598.4:p.His69Arg, NP_148983.1:p.His69Leu, NP_148983.1:p.His69Arg, NP_001382292.1:p.His114Leu, NP_001382292.1:p.His114Arg, NP_001382295.1:p.His69Leu, NP_001382295.1:p.His69Arg, NP_001382294.1:p.His72Leu, NP_001382294.1:p.His72Arg, NP_001382293.1:p.His82Leu, NP_001382293.1:p.His82Arg, XP_011513721.1:p.His68Leu, XP_011513721.1:p.His68Arg, XP_011513718.1:p.His107Leu, XP_011513718.1:p.His107Arg, XP_011513717.1:p.His114Leu, XP_011513717.1:p.His114Arg, XP_011513720.1:p.His107Leu, XP_011513720.1:p.His107Arg, XP_016867778.1:p.His82Leu, XP_016867778.1:p.His82Arg, XP_047276413.1:p.His69Leu, XP_047276413.1:p.His69Arg, XP_047276411.1:p.His83Leu, XP_047276411.1:p.His83Arg, XP_047276412.1:p.His72Leu, XP_047276412.1:p.His72Arg, XP_047276414.1:p.His68Leu, XP_047276414.1:p.His68Arg

Select item 142864763513.

rs1428647635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:510934 (GRCh38)
7:550571 (GRCh37)
Canonical SPDI:: NC_000007.14:510933:C:A,NC_000007.14:510933:C:T
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.510934C>A, NC_000007.14:g.510934C>T, NC_000007.13:g.550571C>A, NC_000007.13:g.550571C>T, NG_029727.1:g.13911G>T, NG_029727.1:g.13911G>A, NM_002607.6:c.328G>T, NM_002607.6:c.328G>A, NM_002607.5:c.328G>T, NM_002607.5:c.328G>A, NM_033023.5:c.328G>T, NM_033023.5:c.328G>A, NM_033023.4:c.328G>T, NM_033023.4:c.328G>A, NR_172527.1:n.1169G>T, NR_172527.1:n.1169G>A, NM_001395363.1:c.463G>T, NM_001395363.1:c.463G>A, NM_001395366.1:c.328G>T, NM_001395366.1:c.328G>A, NM_001395365.1:c.337G>T, NM_001395365.1:c.337G>A, NR_172526.1:n.532G>T, NR_172526.1:n.532G>A, NM_001395364.1:c.367G>T, NM_001395364.1:c.367G>A, XM_011515419.4:c.325G>T, XM_011515419.4:c.325G>A, XM_011515419.3:c.325G>T, XM_011515419.3:c.325G>A, XM_011515419.2:c.325G>T, XM_011515419.2:c.325G>A, XM_011515419.1:c.325G>T, XM_011515419.1:c.325G>A, XM_011515416.2:c.442G>T, XM_011515416.2:c.442G>A, XM_011515416.1:c.442G>T, XM_011515416.1:c.442G>A, XM_011515415.2:c.463G>T, XM_011515415.2:c.463G>A, XM_011515415.1:c.463G>T, XM_011515415.1:c.463G>A, XM_011515418.2:c.442G>T, XM_011515418.2:c.442G>A, XM_011515418.1:c.442G>T, XM_011515418.1:c.442G>A, XM_017012289.2:c.367G>T, XM_017012289.2:c.367G>A, XM_017012289.1:c.367G>T, XM_017012289.1:c.367G>A, XM_047420457.1:c.328G>T, XM_047420457.1:c.328G>A, XM_047420455.1:c.370G>T, XM_047420455.1:c.370G>A, XM_047420456.1:c.337G>T, XM_047420456.1:c.337G>A, XM_047420458.1:c.325G>T, XM_047420458.1:c.325G>A, NP_002598.4:p.Val110Phe, NP_002598.4:p.Val110Ile, NP_148983.1:p.Val110Phe, NP_148983.1:p.Val110Ile, NP_001382292.1:p.Val155Phe, NP_001382292.1:p.Val155Ile, NP_001382295.1:p.Val110Phe, NP_001382295.1:p.Val110Ile, NP_001382294.1:p.Val113Phe, NP_001382294.1:p.Val113Ile, NP_001382293.1:p.Val123Phe, NP_001382293.1:p.Val123Ile, XP_011513721.1:p.Val109Phe, XP_011513721.1:p.Val109Ile, XP_011513718.1:p.Val148Phe, XP_011513718.1:p.Val148Ile, XP_011513717.1:p.Val155Phe, XP_011513717.1:p.Val155Ile, XP_011513720.1:p.Val148Phe, XP_011513720.1:p.Val148Ile, XP_016867778.1:p.Val123Phe, XP_016867778.1:p.Val123Ile, XP_047276413.1:p.Val110Phe, XP_047276413.1:p.Val110Ile, XP_047276411.1:p.Val124Phe, XP_047276411.1:p.Val124Ile, XP_047276412.1:p.Val113Phe, XP_047276412.1:p.Val113Ile, XP_047276414.1:p.Val109Phe, XP_047276414.1:p.Val109Ile

Select item 142564624514.

rs1425646245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:510871 (GRCh38)
7:550508 (GRCh37)
Canonical SPDI:: NC_000007.14:510870:C:A,NC_000007.14:510870:C:T
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.510871C>A, NC_000007.14:g.510871C>T, NC_000007.13:g.550508C>A, NC_000007.13:g.550508C>T, NG_029727.1:g.13974G>T, NG_029727.1:g.13974G>A, NM_002607.6:c.391G>T, NM_002607.6:c.391G>A, NM_002607.5:c.391G>T, NM_002607.5:c.391G>A, NM_033023.5:c.391G>T, NM_033023.5:c.391G>A, NM_033023.4:c.391G>T, NM_033023.4:c.391G>A, NR_172527.1:n.1232G>T, NR_172527.1:n.1232G>A, NM_001395363.1:c.526G>T, NM_001395363.1:c.526G>A, NM_001395366.1:c.391G>T, NM_001395366.1:c.391G>A, NM_001395365.1:c.400G>T, NM_001395365.1:c.400G>A, NR_172526.1:n.595G>T, NR_172526.1:n.595G>A, NM_001395364.1:c.430G>T, NM_001395364.1:c.430G>A, XM_011515419.4:c.388G>T, XM_011515419.4:c.388G>A, XM_011515419.3:c.388G>T, XM_011515419.3:c.388G>A, XM_011515419.2:c.388G>T, XM_011515419.2:c.388G>A, XM_011515419.1:c.388G>T, XM_011515419.1:c.388G>A, XM_011515416.2:c.505G>T, XM_011515416.2:c.505G>A, XM_011515416.1:c.505G>T, XM_011515416.1:c.505G>A, XM_011515415.2:c.526G>T, XM_011515415.2:c.526G>A, XM_011515415.1:c.526G>T, XM_011515415.1:c.526G>A, XM_011515418.2:c.505G>T, XM_011515418.2:c.505G>A, XM_011515418.1:c.505G>T, XM_011515418.1:c.505G>A, XM_017012289.2:c.430G>T, XM_017012289.2:c.430G>A, XM_017012289.1:c.430G>T, XM_017012289.1:c.430G>A, XM_047420457.1:c.391G>T, XM_047420457.1:c.391G>A, XM_047420455.1:c.433G>T, XM_047420455.1:c.433G>A, XM_047420456.1:c.400G>T, XM_047420456.1:c.400G>A, XM_047420458.1:c.388G>T, XM_047420458.1:c.388G>A, NP_002598.4:p.Gly131Cys, NP_002598.4:p.Gly131Ser, NP_148983.1:p.Gly131Cys, NP_148983.1:p.Gly131Ser, NP_001382292.1:p.Gly176Cys, NP_001382292.1:p.Gly176Ser, NP_001382295.1:p.Gly131Cys, NP_001382295.1:p.Gly131Ser, NP_001382294.1:p.Gly134Cys, NP_001382294.1:p.Gly134Ser, NP_001382293.1:p.Gly144Cys, NP_001382293.1:p.Gly144Ser, XP_011513721.1:p.Gly130Cys, XP_011513721.1:p.Gly130Ser, XP_011513718.1:p.Gly169Cys, XP_011513718.1:p.Gly169Ser, XP_011513717.1:p.Gly176Cys, XP_011513717.1:p.Gly176Ser, XP_011513720.1:p.Gly169Cys, XP_011513720.1:p.Gly169Ser, XP_016867778.1:p.Gly144Cys, XP_016867778.1:p.Gly144Ser, XP_047276413.1:p.Gly131Cys, XP_047276413.1:p.Gly131Ser, XP_047276411.1:p.Gly145Cys, XP_047276411.1:p.Gly145Ser, XP_047276412.1:p.Gly134Cys, XP_047276412.1:p.Gly134Ser, XP_047276414.1:p.Gly130Cys, XP_047276414.1:p.Gly130Ser

Select item 142457728415.

rs1424577284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:512411 (GRCh38)
7:552048 (GRCh37)
Canonical SPDI:: NC_000007.14:512410:G:C
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.512411G>C, NC_000007.13:g.552048G>C, NG_029727.1:g.12434C>G, NM_002607.6:c.205C>G, NM_002607.5:c.205C>G, NM_033023.5:c.205C>G, NM_033023.4:c.205C>G, NR_172527.1:n.1046C>G, NM_001395363.1:c.340C>G, NM_001395366.1:c.205C>G, NM_001395365.1:c.214C>G, NR_172526.1:n.409C>G, NM_001395364.1:c.244C>G, XM_011515419.4:c.202C>G, XM_011515419.3:c.202C>G, XM_011515419.2:c.202C>G, XM_011515419.1:c.202C>G, XM_011515416.2:c.319C>G, XM_011515416.1:c.319C>G, XM_011515415.2:c.340C>G, XM_011515415.1:c.340C>G, XM_011515418.2:c.319C>G, XM_011515418.1:c.319C>G, XM_017012289.2:c.244C>G, XM_017012289.1:c.244C>G, XM_047420457.1:c.205C>G, XM_047420455.1:c.247C>G, XM_047420456.1:c.214C>G, XM_047420458.1:c.202C>G, NP_002598.4:p.His69Asp, NP_148983.1:p.His69Asp, NP_001382292.1:p.His114Asp, NP_001382295.1:p.His69Asp, NP_001382294.1:p.His72Asp, NP_001382293.1:p.His82Asp, XP_011513721.1:p.His68Asp, XP_011513718.1:p.His107Asp, XP_011513717.1:p.His114Asp, XP_011513720.1:p.His107Asp, XP_016867778.1:p.His82Asp, XP_047276413.1:p.His69Asp, XP_047276411.1:p.His83Asp, XP_047276412.1:p.His72Asp, XP_047276414.1:p.His68Asp

Select item 142257233916.

rs1422572339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:512430 (GRCh38)
7:552067 (GRCh37)
Canonical SPDI:: NC_000007.14:512429:G:A
Gene:: PDGFA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.512430G>A, NC_000007.13:g.552067G>A, NG_029727.1:g.12415C>T, NM_002607.6:c.186C>T, NM_002607.5:c.186C>T, NM_033023.5:c.186C>T, NM_033023.4:c.186C>T, NR_172527.1:n.1027C>T, NM_001395363.1:c.321C>T, NM_001395366.1:c.186C>T, NM_001395365.1:c.195C>T, NR_172526.1:n.390C>T, NM_001395364.1:c.225C>T, XM_011515419.4:c.183C>T, XM_011515419.3:c.183C>T, XM_011515419.2:c.183C>T, XM_011515419.1:c.183C>T, XM_011515416.2:c.300C>T, XM_011515416.1:c.300C>T, XM_011515415.2:c.321C>T, XM_011515415.1:c.321C>T, XM_011515418.2:c.300C>T, XM_011515418.1:c.300C>T, XM_017012289.2:c.225C>T, XM_017012289.1:c.225C>T, XM_047420457.1:c.186C>T, XM_047420455.1:c.228C>T, XM_047420456.1:c.195C>T, XM_047420458.1:c.183C>T

Select item 142182179117.

rs1421821791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:498572 (GRCh38)
7:538209 (GRCh37)
Canonical SPDI:: NC_000007.14:498571:C:T
Gene:: PDGFA (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.498572C>T, NC_000007.13:g.538209C>T, NG_029727.1:g.26273G>A, NM_002607.6:c.*16G>A, NM_002607.5:c.*16G>A, NM_033023.5:c.583G>A, NM_033023.4:c.583G>A, NR_172527.1:n.1424G>A, NM_001395363.1:c.718G>A, NM_001395366.1:c.583G>A, NM_001395365.1:c.592G>A, NR_172526.1:n.787G>A, NM_001395364.1:c.622G>A, XM_011515419.4:c.*16G>A, XM_011515419.3:c.*16G>A, XM_011515419.2:c.*16G>A, XM_011515419.1:c.*16G>A, XM_011515416.2:c.*16G>A, XM_011515416.1:c.*16G>A, XM_011515415.2:c.*16G>A, XM_011515415.1:c.*16G>A, XM_011515418.2:c.697G>A, XM_011515418.1:c.697G>A, XM_017012289.2:c.*16G>A, XM_017012289.1:c.*16G>A, XM_047420457.1:c.*16G>A, XM_047420455.1:c.*16G>A, XM_047420456.1:c.*16G>A, XM_047420458.1:c.580G>A, NP_148983.1:p.Val195Met, NP_001382292.1:p.Val240Met, NP_001382295.1:p.Val195Met, NP_001382294.1:p.Val198Met, NP_001382293.1:p.Val208Met, XP_011513720.1:p.Val233Met, XP_047276414.1:p.Val194Met

Select item 141215313118.

rs1412153131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:517449 (GRCh38)
7:557086 (GRCh37)
Canonical SPDI:: NC_000007.14:517448:G:T
Gene:: PDGFA (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000007.14:g.517449G>T, NC_000007.13:g.557086G>T, NG_029727.1:g.7396C>A, NM_002607.6:c.105C>A, NM_002607.5:c.105C>A, NM_033023.5:c.105C>A, NM_033023.4:c.105C>A, NR_172527.1:n.950C>A, NM_001395363.1:c.244C>A, NM_001395366.1:c.105C>A, NM_001395365.1:c.114C>A, NR_172526.1:n.309C>A, NM_001395364.1:c.144C>A, XM_011515419.4:c.102C>A, XM_011515419.3:c.102C>A, XM_011515419.2:c.102C>A, XM_011515419.1:c.102C>A, XM_011515416.2:c.219C>A, XM_011515416.1:c.219C>A, XM_011515415.2:c.244C>A, XM_011515415.1:c.244C>A, XM_011515418.2:c.219C>A, XM_011515418.1:c.219C>A, XM_017012289.2:c.144C>A, XM_017012289.1:c.144C>A, XM_047420457.1:c.105C>A, XM_047420456.1:c.114C>A, XM_047420458.1:c.102C>A, NP_001382292.1:p.Gln82Lys, XP_011513717.1:p.Gln82Lys

Select item 140908838319.

rs1409088383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:512382 (GRCh38)
7:552019 (GRCh37)
Canonical SPDI:: NC_000007.14:512381:C:T
Gene:: PDGFA (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.512382C>T, NC_000007.13:g.552019C>T, NG_029727.1:g.12463G>A, NM_002607.6:c.234G>A, NM_002607.5:c.234G>A, NM_033023.5:c.234G>A, NM_033023.4:c.234G>A, NR_172527.1:n.1075G>A, NM_001395363.1:c.369G>A, NM_001395366.1:c.234G>A, NM_001395365.1:c.243G>A, NR_172526.1:n.438G>A, NM_001395364.1:c.273G>A, XM_011515419.4:c.231G>A, XM_011515419.3:c.231G>A, XM_011515419.2:c.231G>A, XM_011515419.1:c.231G>A, XM_011515416.2:c.348G>A, XM_011515416.1:c.348G>A, XM_011515415.2:c.369G>A, XM_011515415.1:c.369G>A, XM_011515418.2:c.348G>A, XM_011515418.1:c.348G>A, XM_017012289.2:c.273G>A, XM_017012289.1:c.273G>A, XM_047420457.1:c.234G>A, XM_047420455.1:c.276G>A, XM_047420456.1:c.243G>A, XM_047420458.1:c.231G>A

Select item 140498418320.

rs1404984183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:517452 (GRCh38)
7:557089 (GRCh37)
Canonical SPDI:: NC_000007.14:517451:G:C
Gene:: PDGFA (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.517452G>C, NC_000007.13:g.557089G>C, NG_029727.1:g.7393C>G, NM_002607.6:c.102C>G, NM_002607.5:c.102C>G, NM_033023.5:c.102C>G, NM_033023.4:c.102C>G, NR_172527.1:n.947C>G, NM_001395363.1:c.241C>G, NM_001395366.1:c.102C>G, NM_001395365.1:c.111C>G, NR_172526.1:n.306C>G, NM_001395364.1:c.141C>G, XM_011515419.4:c.99C>G, XM_011515419.3:c.99C>G, XM_011515419.2:c.99C>G, XM_011515419.1:c.99C>G, XM_011515416.2:c.216C>G, XM_011515416.1:c.216C>G, XM_011515415.2:c.241C>G, XM_011515415.1:c.241C>G, XM_011515418.2:c.216C>G, XM_011515418.1:c.216C>G, XM_017012289.2:c.141C>G, XM_017012289.1:c.141C>G, XM_047420457.1:c.102C>G, XM_047420456.1:c.111C>G, XM_047420458.1:c.99C>G, NP_001382292.1:p.Pro81Ala, XP_011513717.1:p.Pro81Ala

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