SNP Links for Protein (Select 197304708) - SNP

Links from Protein

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Select item 14868121731.

rs1486812173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:1127376 (GRCh38)
7:1167012 (GRCh37)
Canonical SPDI:: NC_000007.14:1127375:G:A
Gene:: C7orf50 (Varview), LOC102723758 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.1127376G>A, NC_000007.13:g.1167012G>A, NM_032350.5:c.10C>T, XM_011515582.4:c.10C>T, XM_011515582.3:c.10C>T, XM_011515582.2:c.10C>T, XM_011515582.1:c.10C>T, XM_011515583.3:c.10C>T, XM_011515583.2:c.10C>T, XM_011515583.1:c.10C>T, XM_017012720.3:c.10C>T, XM_017012720.2:c.10C>T, XM_017012720.1:c.10C>T, NM_001318252.2:c.10C>T, NM_001318252.1:c.10C>T, XM_024446977.2:c.10C>T, XM_024446977.1:c.10C>T, NM_001350970.1:c.10C>T, NM_001134395.1:c.10C>T, NM_001134396.1:c.10C>T, NM_001350968.1:c.10C>T, XM_047420954.1:c.10C>T, NP_115726.1:p.Gln4Ter, XP_011513884.1:p.Gln4Ter, XP_011513885.1:p.Gln4Ter, XP_016868209.1:p.Gln4Ter, NP_001305181.1:p.Gln4Ter, XP_024302745.1:p.Gln4Ter, NP_001337899.1:p.Gln4Ter, NP_001127867.1:p.Gln4Ter, NP_001127868.1:p.Gln4Ter, NP_001337897.1:p.Gln4Ter, XP_047276910.1:p.Gln4Ter

Select item 14847593632.

rs1484759363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:1000496 (GRCh38)
7:1040132 (GRCh37)
Canonical SPDI:: NC_000007.14:1000495:G:A,NC_000007.14:1000495:G:C
Gene:: C7orf50 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.1000496G>A, NC_000007.14:g.1000496G>C, NC_000007.13:g.1040132G>A, NC_000007.13:g.1040132G>C, NM_032350.5:c.379C>T, NM_032350.5:c.379C>G, XM_011515582.4:c.379C>T, XM_011515582.4:c.379C>G, XM_011515582.3:c.379C>T, XM_011515582.3:c.379C>G, XM_011515582.2:c.379C>T, XM_011515582.2:c.379C>G, XM_011515582.1:c.379C>T, XM_011515582.1:c.379C>G, XM_011515583.3:c.379C>T, XM_011515583.3:c.379C>G, XM_011515583.2:c.379C>T, XM_011515583.2:c.379C>G, XM_011515583.1:c.379C>T, XM_011515583.1:c.379C>G, XM_017012720.3:c.379C>T, XM_017012720.3:c.379C>G, XM_017012720.2:c.379C>T, XM_017012720.2:c.379C>G, XM_017012720.1:c.379C>T, XM_017012720.1:c.379C>G, NM_001318252.2:c.379C>T, NM_001318252.2:c.379C>G, NM_001318252.1:c.379C>T, NM_001318252.1:c.379C>G, NR_156697.2:n.362C>T, NR_156697.2:n.362C>G, NR_156697.1:n.362C>T, NR_156697.1:n.362C>G, NM_001350969.2:c.337C>T, NM_001350969.2:c.337C>G, NM_001350969.1:c.337C>T, NM_001350969.1:c.337C>G, NR_146964.2:n.431C>T, NR_146964.2:n.431C>G, NR_146964.1:n.494C>T, NR_146964.1:n.494C>G, NR_146965.2:n.362C>T, NR_146965.2:n.362C>G, NR_146965.1:n.425C>T, NR_146965.1:n.425C>G, NR_134537.2:n.362C>T, NR_134537.2:n.362C>G, NR_134537.1:n.425C>T, NR_134537.1:n.425C>G, XM_024446977.2:c.379C>T, XM_024446977.2:c.379C>G, XM_024446977.1:c.379C>T, XM_024446977.1:c.379C>G, NR_146967.2:n.362C>T, NR_146967.2:n.362C>G, NR_146967.1:n.425C>T, NR_146967.1:n.425C>G, XM_047420953.1:c.337C>T, XM_047420953.1:c.337C>G, NM_001134395.1:c.379C>T, NM_001134395.1:c.379C>G, NM_001134396.1:c.379C>T, NM_001134396.1:c.379C>G, NM_001350968.1:c.379C>T, NM_001350968.1:c.379C>G, XM_047420954.1:c.379C>T, XM_047420954.1:c.379C>G, NP_115726.1:p.Leu127Val, XP_011513884.1:p.Leu127Val, XP_011513885.1:p.Leu127Val, XP_016868209.1:p.Leu127Val, NP_001305181.1:p.Leu127Val, NP_001337898.1:p.Leu113Val, XP_024302745.1:p.Leu127Val, XP_047276909.1:p.Leu113Val, NP_001127867.1:p.Leu127Val, NP_001127868.1:p.Leu127Val, NP_001337897.1:p.Leu127Val, XP_047276910.1:p.Leu127Val

Select item 14839713333.

rs1483971333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:1010012 (GRCh38)
7:1049648 (GRCh37)
Canonical SPDI:: NC_000007.14:1010011:A:G
Gene:: C7orf50 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1010012A>G, NC_000007.13:g.1049648A>G, NM_032350.5:c.261T>C, XM_011515582.4:c.261T>C, XM_011515582.3:c.261T>C, XM_011515582.2:c.261T>C, XM_011515582.1:c.261T>C, XM_011515583.3:c.261T>C, XM_011515583.2:c.261T>C, XM_011515583.1:c.261T>C, XM_017012720.3:c.261T>C, XM_017012720.2:c.261T>C, XM_017012720.1:c.261T>C, NM_001318252.2:c.261T>C, NM_001318252.1:c.261T>C, NR_156697.2:n.244T>C, NR_156697.1:n.244T>C, NM_001350969.2:c.219T>C, NM_001350969.1:c.219T>C, NR_146964.2:n.313T>C, NR_146964.1:n.376T>C, NR_146965.2:n.244T>C, NR_146965.1:n.307T>C, NR_134537.2:n.244T>C, NR_134537.1:n.307T>C, NR_146966.2:n.244T>C, NR_146966.1:n.307T>C, XM_024446977.2:c.261T>C, XM_024446977.1:c.261T>C, NR_146967.2:n.244T>C, NR_146967.1:n.307T>C, XM_047420953.1:c.219T>C, NM_001134395.1:c.261T>C, NM_001134396.1:c.261T>C, NM_001350968.1:c.261T>C, XM_047420954.1:c.261T>C

Select item 14792368894.

rs1479236889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:997790 (GRCh38)
7:1037426 (GRCh37)
Canonical SPDI:: NC_000007.14:997789:G:C
Gene:: C7orf50 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.997790G>C, NC_000007.13:g.1037426G>C, NM_032350.5:c.420C>G, XM_011515582.4:c.420C>G, XM_011515582.3:c.420C>G, XM_011515582.2:c.420C>G, XM_011515582.1:c.420C>G, XM_011515583.3:c.420C>G, XM_011515583.2:c.420C>G, XM_011515583.1:c.420C>G, XM_017012720.3:c.420C>G, XM_017012720.2:c.420C>G, XM_017012720.1:c.420C>G, NM_001318252.2:c.420C>G, NM_001318252.1:c.420C>G, NR_156697.2:n.403C>G, NR_156697.1:n.403C>G, NM_001350969.2:c.378C>G, NM_001350969.1:c.378C>G, NR_146964.2:n.472C>G, NR_146964.1:n.535C>G, NR_146965.2:n.405C>G, NR_146965.1:n.468C>G, NR_134537.2:n.403C>G, NR_134537.1:n.466C>G, NR_146966.2:n.321C>G, NR_146966.1:n.384C>G, XM_024446977.2:c.420C>G, XM_024446977.1:c.420C>G, NR_146967.2:n.403C>G, NR_146967.1:n.466C>G, XM_047420953.1:c.378C>G, NM_001134395.1:c.420C>G, NM_001134396.1:c.420C>G, NM_001350968.1:c.420C>G, XM_047420954.1:c.420C>G, NP_115726.1:p.His140Gln, XP_011513884.1:p.His140Gln, XP_011513885.1:p.His140Gln, XP_016868209.1:p.His140Gln, NP_001305181.1:p.His140Gln, NP_001337898.1:p.His126Gln, XP_024302745.1:p.His140Gln, XP_047276909.1:p.His126Gln, NP_001127867.1:p.His140Gln, NP_001127868.1:p.His140Gln, NP_001337897.1:p.His140Gln, XP_047276910.1:p.His140Gln

Select item 14752513105.

rs1475251310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:997667 (GRCh38)
7:1037303 (GRCh37)
Canonical SPDI:: NC_000007.14:997666:C:A
Gene:: C7orf50 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.997667C>A, NC_000007.13:g.1037303C>A, NM_032350.5:c.543G>T, XM_011515582.4:c.543G>T, XM_011515582.3:c.543G>T, XM_011515582.2:c.543G>T, XM_011515582.1:c.543G>T, XM_011515583.3:c.543G>T, XM_011515583.2:c.543G>T, XM_011515583.1:c.543G>T, XM_017012720.3:c.543G>T, XM_017012720.2:c.543G>T, XM_017012720.1:c.543G>T, NM_001318252.2:c.543G>T, NM_001318252.1:c.543G>T, NR_156697.2:n.526G>T, NR_156697.1:n.526G>T, NM_001350969.2:c.501G>T, NM_001350969.1:c.501G>T, NR_146964.2:n.595G>T, NR_146964.1:n.658G>T, NR_146965.2:n.528G>T, NR_146965.1:n.591G>T, NR_134537.2:n.526G>T, NR_134537.1:n.589G>T, NR_146966.2:n.444G>T, NR_146966.1:n.507G>T, XM_024446977.2:c.543G>T, XM_024446977.1:c.543G>T, NR_146967.2:n.526G>T, NR_146967.1:n.589G>T, XM_047420953.1:c.501G>T, NM_001134395.1:c.543G>T, NM_001134396.1:c.543G>T, NM_001350968.1:c.543G>T, XM_047420954.1:c.543G>T

Select item 14751772216.

rs1475177221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:1010020 (GRCh38)
7:1049656 (GRCh37)
Canonical SPDI:: NC_000007.14:1010019:C:T
Gene:: C7orf50 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1010020C>T, NC_000007.13:g.1049656C>T, NM_032350.5:c.253G>A, XM_011515582.4:c.253G>A, XM_011515582.3:c.253G>A, XM_011515582.2:c.253G>A, XM_011515582.1:c.253G>A, XM_011515583.3:c.253G>A, XM_011515583.2:c.253G>A, XM_011515583.1:c.253G>A, XM_017012720.3:c.253G>A, XM_017012720.2:c.253G>A, XM_017012720.1:c.253G>A, NM_001318252.2:c.253G>A, NM_001318252.1:c.253G>A, NR_156697.2:n.236G>A, NR_156697.1:n.236G>A, NM_001350969.2:c.211G>A, NM_001350969.1:c.211G>A, NR_146964.2:n.305G>A, NR_146964.1:n.368G>A, NR_146965.2:n.236G>A, NR_146965.1:n.299G>A, NR_134537.2:n.236G>A, NR_134537.1:n.299G>A, NR_146966.2:n.236G>A, NR_146966.1:n.299G>A, XM_024446977.2:c.253G>A, XM_024446977.1:c.253G>A, NR_146967.2:n.236G>A, NR_146967.1:n.299G>A, XM_047420953.1:c.211G>A, NM_001134395.1:c.253G>A, NM_001134396.1:c.253G>A, NM_001350968.1:c.253G>A, XM_047420954.1:c.253G>A, NP_115726.1:p.Ala85Thr, XP_011513884.1:p.Ala85Thr, XP_011513885.1:p.Ala85Thr, XP_016868209.1:p.Ala85Thr, NP_001305181.1:p.Ala85Thr, NP_001337898.1:p.Ala71Thr, XP_024302745.1:p.Ala85Thr, XP_047276909.1:p.Ala71Thr, NP_001127867.1:p.Ala85Thr, NP_001127868.1:p.Ala85Thr, NP_001337897.1:p.Ala85Thr, XP_047276910.1:p.Ala85Thr

Select item 14684645877.

rs1468464587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:1127288 (GRCh38)
7:1166924 (GRCh37)
Canonical SPDI:: NC_000007.14:1127287:G:A
Gene:: C7orf50 (Varview), LOC102723758 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.1127288G>A, NC_000007.13:g.1166924G>A, NM_032350.5:c.98C>T, XM_011515582.4:c.98C>T, XM_011515582.3:c.98C>T, XM_011515582.2:c.98C>T, XM_011515582.1:c.98C>T, XM_011515583.3:c.98C>T, XM_011515583.2:c.98C>T, XM_011515583.1:c.98C>T, XM_017012720.3:c.98C>T, XM_017012720.2:c.98C>T, XM_017012720.1:c.98C>T, NM_001318252.2:c.98C>T, NM_001318252.1:c.98C>T, XM_024446977.2:c.98C>T, XM_024446977.1:c.98C>T, NM_001350970.1:c.98C>T, NM_001134395.1:c.98C>T, NM_001134396.1:c.98C>T, NM_001350968.1:c.98C>T, XM_047420954.1:c.98C>T, NP_115726.1:p.Ala33Val, XP_011513884.1:p.Ala33Val, XP_011513885.1:p.Ala33Val, XP_016868209.1:p.Ala33Val, NP_001305181.1:p.Ala33Val, XP_024302745.1:p.Ala33Val, NP_001337899.1:p.Ala33Val, NP_001127867.1:p.Ala33Val, NP_001127868.1:p.Ala33Val, NP_001337897.1:p.Ala33Val, XP_047276910.1:p.Ala33Val

Select item 14672995668.

rs1467299566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:997800 (GRCh38)
7:1037436 (GRCh37)
Canonical SPDI:: NC_000007.14:997799:G:A
Gene:: C7orf50 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.997800G>A, NC_000007.13:g.1037436G>A, NM_032350.5:c.410C>T, XM_011515582.4:c.410C>T, XM_011515582.3:c.410C>T, XM_011515582.2:c.410C>T, XM_011515582.1:c.410C>T, XM_011515583.3:c.410C>T, XM_011515583.2:c.410C>T, XM_011515583.1:c.410C>T, XM_017012720.3:c.410C>T, XM_017012720.2:c.410C>T, XM_017012720.1:c.410C>T, NM_001318252.2:c.410C>T, NM_001318252.1:c.410C>T, NR_156697.2:n.393C>T, NR_156697.1:n.393C>T, NM_001350969.2:c.368C>T, NM_001350969.1:c.368C>T, NR_146964.2:n.462C>T, NR_146964.1:n.525C>T, NR_146965.2:n.395C>T, NR_146965.1:n.458C>T, NR_134537.2:n.393C>T, NR_134537.1:n.456C>T, NR_146966.2:n.311C>T, NR_146966.1:n.374C>T, XM_024446977.2:c.410C>T, XM_024446977.1:c.410C>T, NR_146967.2:n.393C>T, NR_146967.1:n.456C>T, XM_047420953.1:c.368C>T, NM_001134395.1:c.410C>T, NM_001134396.1:c.410C>T, NM_001350968.1:c.410C>T, XM_047420954.1:c.410C>T, NP_115726.1:p.Pro137Leu, XP_011513884.1:p.Pro137Leu, XP_011513885.1:p.Pro137Leu, XP_016868209.1:p.Pro137Leu, NP_001305181.1:p.Pro137Leu, NP_001337898.1:p.Pro123Leu, XP_024302745.1:p.Pro137Leu, XP_047276909.1:p.Pro123Leu, NP_001127867.1:p.Pro137Leu, NP_001127868.1:p.Pro137Leu, NP_001337897.1:p.Pro137Leu, XP_047276910.1:p.Pro137Leu

Select item 14661890299.

rs1466189029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:1000509 (GRCh38)
7:1040145 (GRCh37)
Canonical SPDI:: NC_000007.14:1000508:C:T
Gene:: C7orf50 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.1000509C>T, NC_000007.13:g.1040145C>T, NM_032350.5:c.366G>A, XM_011515582.4:c.366G>A, XM_011515582.3:c.366G>A, XM_011515582.2:c.366G>A, XM_011515582.1:c.366G>A, XM_011515583.3:c.366G>A, XM_011515583.2:c.366G>A, XM_011515583.1:c.366G>A, XM_017012720.3:c.366G>A, XM_017012720.2:c.366G>A, XM_017012720.1:c.366G>A, NM_001318252.2:c.366G>A, NM_001318252.1:c.366G>A, NR_156697.2:n.349G>A, NR_156697.1:n.349G>A, NM_001350969.2:c.324G>A, NM_001350969.1:c.324G>A, NR_146964.2:n.418G>A, NR_146964.1:n.481G>A, NR_146965.2:n.349G>A, NR_146965.1:n.412G>A, NR_134537.2:n.349G>A, NR_134537.1:n.412G>A, XM_024446977.2:c.366G>A, XM_024446977.1:c.366G>A, NR_146967.2:n.349G>A, NR_146967.1:n.412G>A, XM_047420953.1:c.324G>A, NM_001134395.1:c.366G>A, NM_001134396.1:c.366G>A, NM_001350968.1:c.366G>A, XM_047420954.1:c.366G>A

Select item 145953181810.

rs1459531818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:1127262 (GRCh38)
7:1166898 (GRCh37)
Canonical SPDI:: NC_000007.14:1127261:A:T
Gene:: C7orf50 (Varview), LOC102723758 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1127262A>T, NC_000007.13:g.1166898A>T, NM_032350.5:c.124T>A, XM_011515582.4:c.124T>A, XM_011515582.3:c.124T>A, XM_011515582.2:c.124T>A, XM_011515582.1:c.124T>A, XM_011515583.3:c.124T>A, XM_011515583.2:c.124T>A, XM_011515583.1:c.124T>A, XM_017012720.3:c.124T>A, XM_017012720.2:c.124T>A, XM_017012720.1:c.124T>A, NM_001318252.2:c.124T>A, NM_001318252.1:c.124T>A, XM_024446977.2:c.124T>A, XM_024446977.1:c.124T>A, NM_001350970.1:c.124T>A, NM_001134395.1:c.124T>A, NM_001134396.1:c.124T>A, NM_001350968.1:c.124T>A, XM_047420954.1:c.124T>A, NP_115726.1:p.Ser42Thr, XP_011513884.1:p.Ser42Thr, XP_011513885.1:p.Ser42Thr, XP_016868209.1:p.Ser42Thr, NP_001305181.1:p.Ser42Thr, XP_024302745.1:p.Ser42Thr, NP_001337899.1:p.Ser42Thr, NP_001127867.1:p.Ser42Thr, NP_001127868.1:p.Ser42Thr, NP_001337897.1:p.Ser42Thr, XP_047276910.1:p.Ser42Thr

Select item 145776451911.

rs1457764519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:1127316 (GRCh38)
7:1166952 (GRCh37)
Canonical SPDI:: NC_000007.14:1127315:C:G
Gene:: C7orf50 (Varview), LOC102723758 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1127316C>G, NC_000007.13:g.1166952C>G, NM_032350.5:c.70G>C, XM_011515582.4:c.70G>C, XM_011515582.3:c.70G>C, XM_011515582.2:c.70G>C, XM_011515582.1:c.70G>C, XM_011515583.3:c.70G>C, XM_011515583.2:c.70G>C, XM_011515583.1:c.70G>C, XM_017012720.3:c.70G>C, XM_017012720.2:c.70G>C, XM_017012720.1:c.70G>C, NM_001318252.2:c.70G>C, NM_001318252.1:c.70G>C, XM_024446977.2:c.70G>C, XM_024446977.1:c.70G>C, NM_001350970.1:c.70G>C, NM_001134395.1:c.70G>C, NM_001134396.1:c.70G>C, NM_001350968.1:c.70G>C, XM_047420954.1:c.70G>C, NP_115726.1:p.Ala24Pro, XP_011513884.1:p.Ala24Pro, XP_011513885.1:p.Ala24Pro, XP_016868209.1:p.Ala24Pro, NP_001305181.1:p.Ala24Pro, XP_024302745.1:p.Ala24Pro, NP_001337899.1:p.Ala24Pro, NP_001127867.1:p.Ala24Pro, NP_001127868.1:p.Ala24Pro, NP_001337897.1:p.Ala24Pro, XP_047276910.1:p.Ala24Pro

Select item 145202728412.

rs1452027284 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCCCTCCCCGGCAGGGGGGGATCAG>- [Show Flanks]
Chromosome:: 7:997661 (GRCh38)
7:1037297 (GRCh37)
Canonical SPDI:: NC_000007.14:997659:GGGCCCTCCCCGGCAGGGGGGGATCAG:G
Gene:: C7orf50 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.997661_997686del, NC_000007.13:g.1037297_1037322del, NM_032350.5:c.525_550del, XM_011515582.4:c.525_550del, XM_011515582.3:c.525_550del, XM_011515582.2:c.525_550del, XM_011515582.1:c.525_550del, XM_011515583.3:c.525_550del, XM_011515583.2:c.525_550del, XM_011515583.1:c.525_550del, XM_017012720.3:c.525_550del, XM_017012720.2:c.525_550del, XM_017012720.1:c.525_550del, NM_001318252.2:c.525_550del, NM_001318252.1:c.525_550del, NR_156697.2:n.508_533del, NR_156697.1:n.508_533del, NM_001350969.2:c.483_508del, NM_001350969.1:c.483_508del, NR_146964.2:n.577_602del, NR_146964.1:n.640_665del, NR_146965.2:n.510_535del, NR_146965.1:n.573_598del, NR_134537.2:n.508_533del, NR_134537.1:n.571_596del, NR_146966.2:n.426_451del, NR_146966.1:n.489_514del, XM_024446977.2:c.525_550del, XM_024446977.1:c.525_550del, NR_146967.2:n.508_533del, NR_146967.1:n.571_596del, XM_047420953.1:c.483_508del, NM_001134395.1:c.525_550del, NM_001134396.1:c.525_550del, NM_001350968.1:c.525_550del, XM_047420954.1:c.525_550del, NP_115726.1:p.Asp176fs, XP_011513884.1:p.Asp176fs, XP_011513885.1:p.Asp176fs, XP_016868209.1:p.Asp176fs, NP_001305181.1:p.Asp176fs, NP_001337898.1:p.Asp162fs, XP_024302745.1:p.Asp176fs, XP_047276909.1:p.Asp162fs, NP_001127867.1:p.Asp176fs, NP_001127868.1:p.Asp176fs, NP_001337897.1:p.Asp176fs, XP_047276910.1:p.Asp176fs

Select item 145047925313.

rs1450479253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:997686 (GRCh38)
7:1037322 (GRCh37)
Canonical SPDI:: NC_000007.14:997685:G:C
Gene:: C7orf50 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.997686G>C, NC_000007.13:g.1037322G>C, NM_032350.5:c.524C>G, XM_011515582.4:c.524C>G, XM_011515582.3:c.524C>G, XM_011515582.2:c.524C>G, XM_011515582.1:c.524C>G, XM_011515583.3:c.524C>G, XM_011515583.2:c.524C>G, XM_011515583.1:c.524C>G, XM_017012720.3:c.524C>G, XM_017012720.2:c.524C>G, XM_017012720.1:c.524C>G, NM_001318252.2:c.524C>G, NM_001318252.1:c.524C>G, NR_156697.2:n.507C>G, NR_156697.1:n.507C>G, NM_001350969.2:c.482C>G, NM_001350969.1:c.482C>G, NR_146964.2:n.576C>G, NR_146964.1:n.639C>G, NR_146965.2:n.509C>G, NR_146965.1:n.572C>G, NR_134537.2:n.507C>G, NR_134537.1:n.570C>G, NR_146966.2:n.425C>G, NR_146966.1:n.488C>G, XM_024446977.2:c.524C>G, XM_024446977.1:c.524C>G, NR_146967.2:n.507C>G, NR_146967.1:n.570C>G, XM_047420953.1:c.482C>G, NM_001134395.1:c.524C>G, NM_001134396.1:c.524C>G, NM_001350968.1:c.524C>G, XM_047420954.1:c.524C>G, NP_115726.1:p.Ser175Cys, XP_011513884.1:p.Ser175Cys, XP_011513885.1:p.Ser175Cys, XP_016868209.1:p.Ser175Cys, NP_001305181.1:p.Ser175Cys, NP_001337898.1:p.Ser161Cys, XP_024302745.1:p.Ser175Cys, XP_047276909.1:p.Ser161Cys, NP_001127867.1:p.Ser175Cys, NP_001127868.1:p.Ser175Cys, NP_001337897.1:p.Ser175Cys, XP_047276910.1:p.Ser175Cys

Select item 144560043714.

rs1445600437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:1127355 (GRCh38)
7:1166991 (GRCh37)
Canonical SPDI:: NC_000007.14:1127354:C:T
Gene:: C7orf50 (Varview), LOC102723758 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.1127355C>T, NC_000007.13:g.1166991C>T, NM_032350.5:c.31G>A, XM_011515582.4:c.31G>A, XM_011515582.3:c.31G>A, XM_011515582.2:c.31G>A, XM_011515582.1:c.31G>A, XM_011515583.3:c.31G>A, XM_011515583.2:c.31G>A, XM_011515583.1:c.31G>A, XM_017012720.3:c.31G>A, XM_017012720.2:c.31G>A, XM_017012720.1:c.31G>A, NM_001318252.2:c.31G>A, NM_001318252.1:c.31G>A, XM_024446977.2:c.31G>A, XM_024446977.1:c.31G>A, NM_001350970.1:c.31G>A, NM_001134395.1:c.31G>A, NM_001134396.1:c.31G>A, NM_001350968.1:c.31G>A, XM_047420954.1:c.31G>A, NP_115726.1:p.Val11Met, XP_011513884.1:p.Val11Met, XP_011513885.1:p.Val11Met, XP_016868209.1:p.Val11Met, NP_001305181.1:p.Val11Met, XP_024302745.1:p.Val11Met, NP_001337899.1:p.Val11Met, NP_001127867.1:p.Val11Met, NP_001127868.1:p.Val11Met, NP_001337897.1:p.Val11Met, XP_047276910.1:p.Val11Met

Select item 144421030115.

rs1444210301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:1127279 (GRCh38)
7:1166915 (GRCh37)
Canonical SPDI:: NC_000007.14:1127278:C:G,NC_000007.14:1127278:C:T
Gene:: C7orf50 (Varview), LOC102723758 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.1127279C>G, NC_000007.14:g.1127279C>T, NC_000007.13:g.1166915C>G, NC_000007.13:g.1166915C>T, NM_032350.5:c.107G>C, NM_032350.5:c.107G>A, XM_011515582.4:c.107G>C, XM_011515582.4:c.107G>A, XM_011515582.3:c.107G>C, XM_011515582.3:c.107G>A, XM_011515582.2:c.107G>C, XM_011515582.2:c.107G>A, XM_011515582.1:c.107G>C, XM_011515582.1:c.107G>A, XM_011515583.3:c.107G>C, XM_011515583.3:c.107G>A, XM_011515583.2:c.107G>C, XM_011515583.2:c.107G>A, XM_011515583.1:c.107G>C, XM_011515583.1:c.107G>A, XM_017012720.3:c.107G>C, XM_017012720.3:c.107G>A, XM_017012720.2:c.107G>C, XM_017012720.2:c.107G>A, XM_017012720.1:c.107G>C, XM_017012720.1:c.107G>A, NM_001318252.2:c.107G>C, NM_001318252.2:c.107G>A, NM_001318252.1:c.107G>C, NM_001318252.1:c.107G>A, XM_024446977.2:c.107G>C, XM_024446977.2:c.107G>A, XM_024446977.1:c.107G>C, XM_024446977.1:c.107G>A, NM_001350970.1:c.107G>C, NM_001350970.1:c.107G>A, NM_001134395.1:c.107G>C, NM_001134395.1:c.107G>A, NM_001134396.1:c.107G>C, NM_001134396.1:c.107G>A, NM_001350968.1:c.107G>C, NM_001350968.1:c.107G>A, XM_047420954.1:c.107G>C, XM_047420954.1:c.107G>A, NP_115726.1:p.Ser36Thr, NP_115726.1:p.Ser36Asn, XP_011513884.1:p.Ser36Thr, XP_011513884.1:p.Ser36Asn, XP_011513885.1:p.Ser36Thr, XP_011513885.1:p.Ser36Asn, XP_016868209.1:p.Ser36Thr, XP_016868209.1:p.Ser36Asn, NP_001305181.1:p.Ser36Thr, NP_001305181.1:p.Ser36Asn, XP_024302745.1:p.Ser36Thr, XP_024302745.1:p.Ser36Asn, NP_001337899.1:p.Ser36Thr, NP_001337899.1:p.Ser36Asn, NP_001127867.1:p.Ser36Thr, NP_001127867.1:p.Ser36Asn, NP_001127868.1:p.Ser36Thr, NP_001127868.1:p.Ser36Asn, NP_001337897.1:p.Ser36Thr, NP_001337897.1:p.Ser36Asn, XP_047276910.1:p.Ser36Thr, XP_047276910.1:p.Ser36Asn

Select item 144380936916.

rs1443809369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:1127330 (GRCh38)
7:1166966 (GRCh37)
Canonical SPDI:: NC_000007.14:1127329:A:G
Gene:: C7orf50 (Varview), LOC102723758 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.1127330A>G, NC_000007.13:g.1166966A>G, NM_032350.5:c.56T>C, XM_011515582.4:c.56T>C, XM_011515582.3:c.56T>C, XM_011515582.2:c.56T>C, XM_011515582.1:c.56T>C, XM_011515583.3:c.56T>C, XM_011515583.2:c.56T>C, XM_011515583.1:c.56T>C, XM_017012720.3:c.56T>C, XM_017012720.2:c.56T>C, XM_017012720.1:c.56T>C, NM_001318252.2:c.56T>C, NM_001318252.1:c.56T>C, XM_024446977.2:c.56T>C, XM_024446977.1:c.56T>C, NM_001350970.1:c.56T>C, NM_001134395.1:c.56T>C, NM_001134396.1:c.56T>C, NM_001350968.1:c.56T>C, XM_047420954.1:c.56T>C, NP_115726.1:p.Leu19Pro, XP_011513884.1:p.Leu19Pro, XP_011513885.1:p.Leu19Pro, XP_016868209.1:p.Leu19Pro, NP_001305181.1:p.Leu19Pro, XP_024302745.1:p.Leu19Pro, NP_001337899.1:p.Leu19Pro, NP_001127867.1:p.Leu19Pro, NP_001127868.1:p.Leu19Pro, NP_001337897.1:p.Leu19Pro, XP_047276910.1:p.Leu19Pro

Select item 143650675717.

rs1436506757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:997777 (GRCh38)
7:1037413 (GRCh37)
Canonical SPDI:: NC_000007.14:997776:G:A,NC_000007.14:997776:G:T
Gene:: C7orf50 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.997777G>A, NC_000007.14:g.997777G>T, NC_000007.13:g.1037413G>A, NC_000007.13:g.1037413G>T, NM_032350.5:c.433C>T, NM_032350.5:c.433C>A, XM_011515582.4:c.433C>T, XM_011515582.4:c.433C>A, XM_011515582.3:c.433C>T, XM_011515582.3:c.433C>A, XM_011515582.2:c.433C>T, XM_011515582.2:c.433C>A, XM_011515582.1:c.433C>T, XM_011515582.1:c.433C>A, XM_011515583.3:c.433C>T, XM_011515583.3:c.433C>A, XM_011515583.2:c.433C>T, XM_011515583.2:c.433C>A, XM_011515583.1:c.433C>T, XM_011515583.1:c.433C>A, XM_017012720.3:c.433C>T, XM_017012720.3:c.433C>A, XM_017012720.2:c.433C>T, XM_017012720.2:c.433C>A, XM_017012720.1:c.433C>T, XM_017012720.1:c.433C>A, NM_001318252.2:c.433C>T, NM_001318252.2:c.433C>A, NM_001318252.1:c.433C>T, NM_001318252.1:c.433C>A, NR_156697.2:n.416C>T, NR_156697.2:n.416C>A, NR_156697.1:n.416C>T, NR_156697.1:n.416C>A, NM_001350969.2:c.391C>T, NM_001350969.2:c.391C>A, NM_001350969.1:c.391C>T, NM_001350969.1:c.391C>A, NR_146964.2:n.485C>T, NR_146964.2:n.485C>A, NR_146964.1:n.548C>T, NR_146964.1:n.548C>A, NR_146965.2:n.418C>T, NR_146965.2:n.418C>A, NR_146965.1:n.481C>T, NR_146965.1:n.481C>A, NR_134537.2:n.416C>T, NR_134537.2:n.416C>A, NR_134537.1:n.479C>T, NR_134537.1:n.479C>A, NR_146966.2:n.334C>T, NR_146966.2:n.334C>A, NR_146966.1:n.397C>T, NR_146966.1:n.397C>A, XM_024446977.2:c.433C>T, XM_024446977.2:c.433C>A, XM_024446977.1:c.433C>T, XM_024446977.1:c.433C>A, NR_146967.2:n.416C>T, NR_146967.2:n.416C>A, NR_146967.1:n.479C>T, NR_146967.1:n.479C>A, XM_047420953.1:c.391C>T, XM_047420953.1:c.391C>A, NM_001134395.1:c.433C>T, NM_001134395.1:c.433C>A, NM_001134396.1:c.433C>T, NM_001134396.1:c.433C>A, NM_001350968.1:c.433C>T, NM_001350968.1:c.433C>A, XM_047420954.1:c.433C>T, XM_047420954.1:c.433C>A, NP_115726.1:p.Leu145Met, XP_011513884.1:p.Leu145Met, XP_011513885.1:p.Leu145Met, XP_016868209.1:p.Leu145Met, NP_001305181.1:p.Leu145Met, NP_001337898.1:p.Leu131Met, XP_024302745.1:p.Leu145Met, XP_047276909.1:p.Leu131Met, NP_001127867.1:p.Leu145Met, NP_001127868.1:p.Leu145Met, NP_001337897.1:p.Leu145Met, XP_047276910.1:p.Leu145Met

Select item 143635300718.

rs1436353007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:1010091 (GRCh38)
7:1049727 (GRCh37)
Canonical SPDI:: NC_000007.14:1010090:T:G
Gene:: C7orf50 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.1010091T>G, NC_000007.13:g.1049727T>G, NM_032350.5:c.182A>C, XM_011515582.4:c.182A>C, XM_011515582.3:c.182A>C, XM_011515582.2:c.182A>C, XM_011515582.1:c.182A>C, XM_011515583.3:c.182A>C, XM_011515583.2:c.182A>C, XM_011515583.1:c.182A>C, XM_017012720.3:c.182A>C, XM_017012720.2:c.182A>C, XM_017012720.1:c.182A>C, NM_001318252.2:c.182A>C, NM_001318252.1:c.182A>C, NR_156697.2:n.165A>C, NR_156697.1:n.165A>C, NM_001350969.2:c.140A>C, NM_001350969.1:c.140A>C, NR_146964.2:n.234A>C, NR_146964.1:n.297A>C, NR_146965.2:n.165A>C, NR_146965.1:n.228A>C, NR_134537.2:n.165A>C, NR_134537.1:n.228A>C, NR_146966.2:n.165A>C, NR_146966.1:n.228A>C, XM_024446977.2:c.182A>C, XM_024446977.1:c.182A>C, NR_146967.2:n.165A>C, NR_146967.1:n.228A>C, XM_047420953.1:c.140A>C, NM_001134395.1:c.182A>C, NM_001134396.1:c.182A>C, NM_001350968.1:c.182A>C, XM_047420954.1:c.182A>C, NP_115726.1:p.Glu61Ala, XP_011513884.1:p.Glu61Ala, XP_011513885.1:p.Glu61Ala, XP_016868209.1:p.Glu61Ala, NP_001305181.1:p.Glu61Ala, NP_001337898.1:p.Glu47Ala, XP_024302745.1:p.Glu61Ala, XP_047276909.1:p.Glu47Ala, NP_001127867.1:p.Glu61Ala, NP_001127868.1:p.Glu61Ala, NP_001337897.1:p.Glu61Ala, XP_047276910.1:p.Glu61Ala

Select item 143363733619.

rs1433637336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:1000528 (GRCh38)
7:1040164 (GRCh37)
Canonical SPDI:: NC_000007.14:1000527:C:G,NC_000007.14:1000527:C:T
Gene:: C7orf50 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.1000528C>G, NC_000007.14:g.1000528C>T, NC_000007.13:g.1040164C>G, NC_000007.13:g.1040164C>T, NM_032350.5:c.347G>C, NM_032350.5:c.347G>A, XM_011515582.4:c.347G>C, XM_011515582.4:c.347G>A, XM_011515582.3:c.347G>C, XM_011515582.3:c.347G>A, XM_011515582.2:c.347G>C, XM_011515582.2:c.347G>A, XM_011515582.1:c.347G>C, XM_011515582.1:c.347G>A, XM_011515583.3:c.347G>C, XM_011515583.3:c.347G>A, XM_011515583.2:c.347G>C, XM_011515583.2:c.347G>A, XM_011515583.1:c.347G>C, XM_011515583.1:c.347G>A, XM_017012720.3:c.347G>C, XM_017012720.3:c.347G>A, XM_017012720.2:c.347G>C, XM_017012720.2:c.347G>A, XM_017012720.1:c.347G>C, XM_017012720.1:c.347G>A, NM_001318252.2:c.347G>C, NM_001318252.2:c.347G>A, NM_001318252.1:c.347G>C, NM_001318252.1:c.347G>A, NR_156697.2:n.330G>C, NR_156697.2:n.330G>A, NR_156697.1:n.330G>C, NR_156697.1:n.330G>A, NM_001350969.2:c.305G>C, NM_001350969.2:c.305G>A, NM_001350969.1:c.305G>C, NM_001350969.1:c.305G>A, NR_146964.2:n.399G>C, NR_146964.2:n.399G>A, NR_146964.1:n.462G>C, NR_146964.1:n.462G>A, NR_146965.2:n.330G>C, NR_146965.2:n.330G>A, NR_146965.1:n.393G>C, NR_146965.1:n.393G>A, NR_134537.2:n.330G>C, NR_134537.2:n.330G>A, NR_134537.1:n.393G>C, NR_134537.1:n.393G>A, XM_024446977.2:c.347G>C, XM_024446977.2:c.347G>A, XM_024446977.1:c.347G>C, XM_024446977.1:c.347G>A, NR_146967.2:n.330G>C, NR_146967.2:n.330G>A, NR_146967.1:n.393G>C, NR_146967.1:n.393G>A, XM_047420953.1:c.305G>C, XM_047420953.1:c.305G>A, NM_001134395.1:c.347G>C, NM_001134395.1:c.347G>A, NM_001134396.1:c.347G>C, NM_001134396.1:c.347G>A, NM_001350968.1:c.347G>C, NM_001350968.1:c.347G>A, XM_047420954.1:c.347G>C, XM_047420954.1:c.347G>A, NP_115726.1:p.Trp116Ser, NP_115726.1:p.Trp116Ter, XP_011513884.1:p.Trp116Ser, XP_011513884.1:p.Trp116Ter, XP_011513885.1:p.Trp116Ser, XP_011513885.1:p.Trp116Ter, XP_016868209.1:p.Trp116Ser, XP_016868209.1:p.Trp116Ter, NP_001305181.1:p.Trp116Ser, NP_001305181.1:p.Trp116Ter, NP_001337898.1:p.Trp102Ser, NP_001337898.1:p.Trp102Ter, XP_024302745.1:p.Trp116Ser, XP_024302745.1:p.Trp116Ter, XP_047276909.1:p.Trp102Ser, XP_047276909.1:p.Trp102Ter, NP_001127867.1:p.Trp116Ser, NP_001127867.1:p.Trp116Ter, NP_001127868.1:p.Trp116Ser, NP_001127868.1:p.Trp116Ter, NP_001337897.1:p.Trp116Ser, NP_001337897.1:p.Trp116Ter, XP_047276910.1:p.Trp116Ser, XP_047276910.1:p.Trp116Ter

Select item 142979325420.

rs1429793254 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 7:1127331 (GRCh38)
7:1166967 (GRCh37)
Canonical SPDI:: NC_000007.14:1127330:G:
Gene:: C7orf50 (Varview), LOC102723758 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1127331del, NC_000007.13:g.1166967del, NM_032350.5:c.55del, XM_011515582.4:c.55del, XM_011515582.3:c.55del, XM_011515582.2:c.55del, XM_011515582.1:c.55del, XM_011515583.3:c.55del, XM_011515583.2:c.55del, XM_011515583.1:c.55del, XM_017012720.3:c.55del, XM_017012720.2:c.55del, XM_017012720.1:c.55del, NM_001318252.2:c.55del, NM_001318252.1:c.55del, XM_024446977.2:c.55del, XM_024446977.1:c.55del, NM_001350970.1:c.55del, NM_001134395.1:c.55del, NM_001134396.1:c.55del, NM_001350968.1:c.55del, XM_047420954.1:c.55del, NP_115726.1:p.Lys18_Leu19insTer, XP_011513884.1:p.Lys18_Leu19insTer, XP_011513885.1:p.Lys18_Leu19insTer, XP_016868209.1:p.Lys18_Leu19insTer, NP_001305181.1:p.Lys18_Leu19insTer, XP_024302745.1:p.Lys18_Leu19insTer, NP_001337899.1:p.Lys18_Leu19insTer, NP_001127867.1:p.Lys18_Leu19insTer, NP_001127868.1:p.Lys18_Leu19insTer, NP_001337897.1:p.Lys18_Leu19insTer, XP_047276910.1:p.Lys18_Leu19insTer

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