SNP Links for Protein (Select 27502402) - SNP

Links from Protein

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Select item 14867826481.

rs1486782648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207757560 (GRCh38)
1:207930905 (GRCh37)
Canonical SPDI:: NC_000001.11:207757559:C:T
Gene:: CD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.207757560C>T, NC_000001.10:g.207930905C>T, NG_009296.1:g.10504C>T, NM_002389.4:c.307C>T, NM_153826.4:c.307C>T, NM_153826.3:c.307C>T, NM_172351.3:c.307C>T, NM_172351.2:c.307C>T, NM_172355.3:c.307C>T, NM_172355.2:c.307C>T, NM_172355.1:c.307C>T, NM_172352.3:c.307C>T, NM_172352.2:c.307C>T, NM_172359.3:c.307C>T, NM_172359.2:c.307C>T, NM_172357.3:c.307C>T, NM_172357.2:c.307C>T, NM_172357.1:c.307C>T, NM_172358.3:c.307C>T, NM_172358.2:c.307C>T, NM_172358.1:c.307C>T, NM_172356.3:c.307C>T, NM_172356.2:c.307C>T, NM_172356.1:c.307C>T, NM_172353.3:c.307C>T, NM_172353.2:c.307C>T, NM_172361.3:c.307C>T, NM_172361.2:c.307C>T, NM_172350.3:c.307C>T, NM_172350.2:c.307C>T, XM_011509563.3:c.307C>T, XM_011509563.2:c.307C>T, XM_011509563.1:c.307C>T, NM_172354.1:c.307C>T, NM_172360.1:c.307C>T, XM_047420888.1:c.307C>T, XM_047420894.1:c.307C>T, XM_047420901.1:c.307C>T, XM_047420909.1:c.307C>T, NP_002380.3:p.Arg103Trp, NP_722548.1:p.Arg103Trp, NP_758861.1:p.Arg103Trp, NP_758865.1:p.Arg103Trp, NP_758862.1:p.Arg103Trp, NP_758869.1:p.Arg103Trp, NP_758867.1:p.Arg103Trp, NP_758868.1:p.Arg103Trp, NP_758866.1:p.Arg103Trp, NP_758863.1:p.Arg103Trp, NP_758871.1:p.Arg103Trp, NP_758860.1:p.Arg103Trp, XP_011507865.1:p.Arg103Trp, XP_047276844.1:p.Arg103Trp, XP_047276850.1:p.Arg103Trp, XP_047276857.1:p.Arg103Trp, XP_047276865.1:p.Arg103Trp

Select item 14843061202.

rs1484306120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207767087 (GRCh38)
1:207940432 (GRCh37)
Canonical SPDI:: NC_000001.11:207767086:G:A
Gene:: CD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207767087G>A, NC_000001.10:g.207940432G>A, NG_009296.1:g.20031G>A, NM_002389.4:c.748G>A, NM_153826.4:c.748G>A, NM_153826.3:c.748G>A, NM_172351.3:c.748G>A, NM_172351.2:c.748G>A, NM_172355.3:c.748G>A, NM_172355.2:c.748G>A, NM_172355.1:c.748G>A, NM_172352.3:c.748G>A, NM_172352.2:c.748G>A, NM_172359.3:c.748G>A, NM_172359.2:c.748G>A, NM_172357.3:c.748G>A, NM_172357.2:c.748G>A, NM_172357.1:c.748G>A, NM_172358.3:c.748G>A, NM_172358.2:c.748G>A, NM_172358.1:c.748G>A, NM_172356.3:c.748G>A, NM_172356.2:c.748G>A, NM_172356.1:c.748G>A, NM_172353.3:c.748G>A, NM_172353.2:c.748G>A, NM_172361.3:c.748G>A, NM_172361.2:c.748G>A, NM_172350.3:c.748G>A, NM_172350.2:c.748G>A, XM_011509563.3:c.748G>A, XM_011509563.2:c.748G>A, XM_011509563.1:c.748G>A, NM_172354.1:c.748G>A, NM_172360.1:c.748G>A, XM_047420888.1:c.748G>A, XM_047420894.1:c.748G>A, XM_047420901.1:c.748G>A, XM_047420909.1:c.748G>A, NP_002380.3:p.Ala250Thr, NP_722548.1:p.Ala250Thr, NP_758861.1:p.Ala250Thr, NP_758865.1:p.Ala250Thr, NP_758862.1:p.Ala250Thr, NP_758869.1:p.Ala250Thr, NP_758867.1:p.Ala250Thr, NP_758868.1:p.Ala250Thr, NP_758866.1:p.Ala250Thr, NP_758863.1:p.Ala250Thr, NP_758871.1:p.Ala250Thr, NP_758860.1:p.Ala250Thr, XP_011507865.1:p.Ala250Thr, XP_047276844.1:p.Ala250Thr, XP_047276850.1:p.Ala250Thr, XP_047276857.1:p.Ala250Thr, XP_047276865.1:p.Ala250Thr

Select item 14832015833.

rs1483201583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207790260 (GRCh38)
1:207963605 (GRCh37)
Canonical SPDI:: NC_000001.11:207790259:C:T
Gene:: CD46 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.207790260C>T, NC_000001.10:g.207963605C>T, NG_009296.1:g.43204C>T, NM_002389.4:c.1135C>T, NM_172351.3:c.1090C>T, NM_172351.2:c.1090C>T, NM_172355.3:c.1048C>T, NM_172355.2:c.1048C>T, NM_172355.1:c.1048C>T, NM_172352.3:c.1045C>T, NM_172352.2:c.1045C>T, NM_172357.3:c.1003C>T, NM_172357.2:c.1003C>T, NM_172357.1:c.1003C>T, NM_172354.1:c.1093C>T, XM_047420888.1:c.1135C>T, XM_047420894.1:c.1090C>T, XM_047420901.1:c.1048C>T, XM_047420909.1:c.1045C>T

Select item 14823478504.

rs1482347850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207757577 (GRCh38)
1:207930922 (GRCh37)
Canonical SPDI:: NC_000001.11:207757576:C:T
Gene:: CD46 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.207757577C>T, NC_000001.10:g.207930922C>T, NG_009296.1:g.10521C>T, NM_002389.4:c.324C>T, NM_153826.4:c.324C>T, NM_153826.3:c.324C>T, NM_172351.3:c.324C>T, NM_172351.2:c.324C>T, NM_172355.3:c.324C>T, NM_172355.2:c.324C>T, NM_172355.1:c.324C>T, NM_172352.3:c.324C>T, NM_172352.2:c.324C>T, NM_172359.3:c.324C>T, NM_172359.2:c.324C>T, NM_172357.3:c.324C>T, NM_172357.2:c.324C>T, NM_172357.1:c.324C>T, NM_172358.3:c.324C>T, NM_172358.2:c.324C>T, NM_172358.1:c.324C>T, NM_172356.3:c.324C>T, NM_172356.2:c.324C>T, NM_172356.1:c.324C>T, NM_172353.3:c.324C>T, NM_172353.2:c.324C>T, NM_172361.3:c.324C>T, NM_172361.2:c.324C>T, NM_172350.3:c.324C>T, NM_172350.2:c.324C>T, XM_011509563.3:c.324C>T, XM_011509563.2:c.324C>T, XM_011509563.1:c.324C>T, NM_172354.1:c.324C>T, NM_172360.1:c.324C>T, XM_047420888.1:c.324C>T, XM_047420894.1:c.324C>T, XM_047420901.1:c.324C>T, XM_047420909.1:c.324C>T

Select item 14778520765.

rs1477852076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207767086 (GRCh38)
1:207940431 (GRCh37)
Canonical SPDI:: NC_000001.11:207767085:A:G
Gene:: CD46 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207767086A>G, NC_000001.10:g.207940431A>G, NG_009296.1:g.20030A>G, NM_002389.4:c.747A>G, NM_153826.4:c.747A>G, NM_153826.3:c.747A>G, NM_172351.3:c.747A>G, NM_172351.2:c.747A>G, NM_172355.3:c.747A>G, NM_172355.2:c.747A>G, NM_172355.1:c.747A>G, NM_172352.3:c.747A>G, NM_172352.2:c.747A>G, NM_172359.3:c.747A>G, NM_172359.2:c.747A>G, NM_172357.3:c.747A>G, NM_172357.2:c.747A>G, NM_172357.1:c.747A>G, NM_172358.3:c.747A>G, NM_172358.2:c.747A>G, NM_172358.1:c.747A>G, NM_172356.3:c.747A>G, NM_172356.2:c.747A>G, NM_172356.1:c.747A>G, NM_172353.3:c.747A>G, NM_172353.2:c.747A>G, NM_172361.3:c.747A>G, NM_172361.2:c.747A>G, NM_172350.3:c.747A>G, NM_172350.2:c.747A>G, XM_011509563.3:c.747A>G, XM_011509563.2:c.747A>G, XM_011509563.1:c.747A>G, NM_172354.1:c.747A>G, NM_172360.1:c.747A>G, XM_047420888.1:c.747A>G, XM_047420894.1:c.747A>G, XM_047420901.1:c.747A>G, XM_047420909.1:c.747A>G

Select item 14709604466.

rs1470960446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207759657 (GRCh38)
1:207933002 (GRCh37)
Canonical SPDI:: NC_000001.11:207759656:A:G
Gene:: CD46 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207759657A>G, NC_000001.10:g.207933002A>G, NG_009296.1:g.12601A>G, NM_002389.4:c.408A>G, NM_153826.4:c.408A>G, NM_153826.3:c.408A>G, NM_172351.3:c.408A>G, NM_172351.2:c.408A>G, NM_172355.3:c.408A>G, NM_172355.2:c.408A>G, NM_172355.1:c.408A>G, NM_172352.3:c.408A>G, NM_172352.2:c.408A>G, NM_172359.3:c.408A>G, NM_172359.2:c.408A>G, NM_172357.3:c.408A>G, NM_172357.2:c.408A>G, NM_172357.1:c.408A>G, NM_172358.3:c.408A>G, NM_172358.2:c.408A>G, NM_172358.1:c.408A>G, NM_172356.3:c.408A>G, NM_172356.2:c.408A>G, NM_172356.1:c.408A>G, NM_172353.3:c.408A>G, NM_172353.2:c.408A>G, NM_172361.3:c.408A>G, NM_172361.2:c.408A>G, NM_172350.3:c.408A>G, NM_172350.2:c.408A>G, XM_011509563.3:c.408A>G, XM_011509563.2:c.408A>G, XM_011509563.1:c.408A>G, NM_172354.1:c.408A>G, NM_172360.1:c.408A>G, XM_047420888.1:c.408A>G, XM_047420894.1:c.408A>G, XM_047420901.1:c.408A>G, XM_047420909.1:c.408A>G

Select item 14698095267.

rs1469809526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:207767621 (GRCh38)
1:207940966 (GRCh37)
Canonical SPDI:: NC_000001.11:207767620:A:T
Gene:: CD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.207767621A>T, NC_000001.10:g.207940966A>T, NG_009296.1:g.20565A>T, NM_002389.4:c.871A>T, NM_172359.3:c.871A>T, NM_172359.2:c.871A>T, XM_011509563.3:c.871A>T, XM_011509563.2:c.871A>T, XM_011509563.1:c.871A>T, NM_172354.1:c.871A>T, NM_172360.1:c.871A>T, XM_047420888.1:c.871A>T, NP_002380.3:p.Ser291Cys, NP_758869.1:p.Ser291Cys, XP_011507865.1:p.Ser291Cys, XP_047276844.1:p.Ser291Cys

Select item 14692699008.

rs1469269900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207759640 (GRCh38)
1:207932985 (GRCh37)
Canonical SPDI:: NC_000001.11:207759639:T:C
Gene:: CD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207759640T>C, NC_000001.10:g.207932985T>C, NG_009296.1:g.12584T>C, NM_002389.4:c.391T>C, NM_153826.4:c.391T>C, NM_153826.3:c.391T>C, NM_172351.3:c.391T>C, NM_172351.2:c.391T>C, NM_172355.3:c.391T>C, NM_172355.2:c.391T>C, NM_172355.1:c.391T>C, NM_172352.3:c.391T>C, NM_172352.2:c.391T>C, NM_172359.3:c.391T>C, NM_172359.2:c.391T>C, NM_172357.3:c.391T>C, NM_172357.2:c.391T>C, NM_172357.1:c.391T>C, NM_172358.3:c.391T>C, NM_172358.2:c.391T>C, NM_172358.1:c.391T>C, NM_172356.3:c.391T>C, NM_172356.2:c.391T>C, NM_172356.1:c.391T>C, NM_172353.3:c.391T>C, NM_172353.2:c.391T>C, NM_172361.3:c.391T>C, NM_172361.2:c.391T>C, NM_172350.3:c.391T>C, NM_172350.2:c.391T>C, XM_011509563.3:c.391T>C, XM_011509563.2:c.391T>C, XM_011509563.1:c.391T>C, NM_172354.1:c.391T>C, NM_172360.1:c.391T>C, XM_047420888.1:c.391T>C, XM_047420894.1:c.391T>C, XM_047420901.1:c.391T>C, XM_047420909.1:c.391T>C, NP_002380.3:p.Tyr131His, NP_722548.1:p.Tyr131His, NP_758861.1:p.Tyr131His, NP_758865.1:p.Tyr131His, NP_758862.1:p.Tyr131His, NP_758869.1:p.Tyr131His, NP_758867.1:p.Tyr131His, NP_758868.1:p.Tyr131His, NP_758866.1:p.Tyr131His, NP_758863.1:p.Tyr131His, NP_758871.1:p.Tyr131His, NP_758860.1:p.Tyr131His, XP_011507865.1:p.Tyr131His, XP_047276844.1:p.Tyr131His, XP_047276850.1:p.Tyr131His, XP_047276857.1:p.Tyr131His, XP_047276865.1:p.Tyr131His

Select item 14682886739.

rs1468288673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207752234 (GRCh38)
1:207925579 (GRCh37)
Canonical SPDI:: NC_000001.11:207752233:G:A
Gene:: CD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207752234G>A, NC_000001.10:g.207925579G>A, NG_009296.1:g.5178G>A, NM_002389.4:c.22G>A, NM_153826.4:c.22G>A, NM_153826.3:c.22G>A, NM_172351.3:c.22G>A, NM_172351.2:c.22G>A, NM_172355.3:c.22G>A, NM_172355.2:c.22G>A, NM_172355.1:c.22G>A, NM_172352.3:c.22G>A, NM_172352.2:c.22G>A, NM_172359.3:c.22G>A, NM_172359.2:c.22G>A, NM_172357.3:c.22G>A, NM_172357.2:c.22G>A, NM_172357.1:c.22G>A, NM_172358.3:c.22G>A, NM_172358.2:c.22G>A, NM_172358.1:c.22G>A, NM_172356.3:c.22G>A, NM_172356.2:c.22G>A, NM_172356.1:c.22G>A, NM_172353.3:c.22G>A, NM_172353.2:c.22G>A, NM_172361.3:c.22G>A, NM_172361.2:c.22G>A, NM_172350.3:c.22G>A, NM_172350.2:c.22G>A, XM_011509563.3:c.22G>A, XM_011509563.2:c.22G>A, XM_011509563.1:c.22G>A, NM_172354.1:c.22G>A, NM_172360.1:c.22G>A, XM_047420888.1:c.22G>A, XM_047420894.1:c.22G>A, XM_047420901.1:c.22G>A, XM_047420909.1:c.22G>A, NP_002380.3:p.Glu8Lys, NP_722548.1:p.Glu8Lys, NP_758861.1:p.Glu8Lys, NP_758865.1:p.Glu8Lys, NP_758862.1:p.Glu8Lys, NP_758869.1:p.Glu8Lys, NP_758867.1:p.Glu8Lys, NP_758868.1:p.Glu8Lys, NP_758866.1:p.Glu8Lys, NP_758863.1:p.Glu8Lys, NP_758871.1:p.Glu8Lys, NP_758860.1:p.Glu8Lys, XP_011507865.1:p.Glu8Lys, XP_047276844.1:p.Glu8Lys, XP_047276850.1:p.Glu8Lys, XP_047276857.1:p.Glu8Lys, XP_047276865.1:p.Glu8Lys

Select item 146761144510.

rs1467611445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:207761300 (GRCh38)
1:207934645 (GRCh37)
Canonical SPDI:: NC_000001.11:207761299:G:A,NC_000001.11:207761299:G:C
Gene:: CD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207761300G>A, NC_000001.11:g.207761300G>C, NC_000001.10:g.207934645G>A, NC_000001.10:g.207934645G>C, NG_009296.1:g.14244G>A, NG_009296.1:g.14244G>C, NM_002389.4:c.527G>A, NM_002389.4:c.527G>C, NM_153826.4:c.527G>A, NM_153826.4:c.527G>C, NM_153826.3:c.527G>A, NM_153826.3:c.527G>C, NM_172351.3:c.527G>A, NM_172351.3:c.527G>C, NM_172351.2:c.527G>A, NM_172351.2:c.527G>C, NM_172355.3:c.527G>A, NM_172355.3:c.527G>C, NM_172355.2:c.527G>A, NM_172355.2:c.527G>C, NM_172355.1:c.527G>A, NM_172355.1:c.527G>C, NM_172352.3:c.527G>A, NM_172352.3:c.527G>C, NM_172352.2:c.527G>A, NM_172352.2:c.527G>C, NM_172359.3:c.527G>A, NM_172359.3:c.527G>C, NM_172359.2:c.527G>A, NM_172359.2:c.527G>C, NM_172357.3:c.527G>A, NM_172357.3:c.527G>C, NM_172357.2:c.527G>A, NM_172357.2:c.527G>C, NM_172357.1:c.527G>A, NM_172357.1:c.527G>C, NM_172358.3:c.527G>A, NM_172358.3:c.527G>C, NM_172358.2:c.527G>A, NM_172358.2:c.527G>C, NM_172358.1:c.527G>A, NM_172358.1:c.527G>C, NM_172356.3:c.527G>A, NM_172356.3:c.527G>C, NM_172356.2:c.527G>A, NM_172356.2:c.527G>C, NM_172356.1:c.527G>A, NM_172356.1:c.527G>C, NM_172353.3:c.527G>A, NM_172353.3:c.527G>C, NM_172353.2:c.527G>A, NM_172353.2:c.527G>C, NM_172361.3:c.527G>A, NM_172361.3:c.527G>C, NM_172361.2:c.527G>A, NM_172361.2:c.527G>C, NM_172350.3:c.527G>A, NM_172350.3:c.527G>C, NM_172350.2:c.527G>A, NM_172350.2:c.527G>C, XM_011509563.3:c.527G>A, XM_011509563.3:c.527G>C, XM_011509563.2:c.527G>A, XM_011509563.2:c.527G>C, XM_011509563.1:c.527G>A, XM_011509563.1:c.527G>C, NM_172354.1:c.527G>A, NM_172354.1:c.527G>C, NM_172360.1:c.527G>A, NM_172360.1:c.527G>C, XM_047420888.1:c.527G>A, XM_047420888.1:c.527G>C, XM_047420894.1:c.527G>A, XM_047420894.1:c.527G>C, XM_047420901.1:c.527G>A, XM_047420901.1:c.527G>C, XM_047420909.1:c.527G>A, XM_047420909.1:c.527G>C, NP_002380.3:p.Ser176Asn, NP_002380.3:p.Ser176Thr, NP_722548.1:p.Ser176Asn, NP_722548.1:p.Ser176Thr, NP_758861.1:p.Ser176Asn, NP_758861.1:p.Ser176Thr, NP_758865.1:p.Ser176Asn, NP_758865.1:p.Ser176Thr, NP_758862.1:p.Ser176Asn, NP_758862.1:p.Ser176Thr, NP_758869.1:p.Ser176Asn, NP_758869.1:p.Ser176Thr, NP_758867.1:p.Ser176Asn, NP_758867.1:p.Ser176Thr, NP_758868.1:p.Ser176Asn, NP_758868.1:p.Ser176Thr, NP_758866.1:p.Ser176Asn, NP_758866.1:p.Ser176Thr, NP_758863.1:p.Ser176Asn, NP_758863.1:p.Ser176Thr, NP_758871.1:p.Ser176Asn, NP_758871.1:p.Ser176Thr, NP_758860.1:p.Ser176Asn, NP_758860.1:p.Ser176Thr, XP_011507865.1:p.Ser176Asn, XP_011507865.1:p.Ser176Thr, XP_047276844.1:p.Ser176Asn, XP_047276844.1:p.Ser176Thr, XP_047276850.1:p.Ser176Asn, XP_047276850.1:p.Ser176Thr, XP_047276857.1:p.Ser176Asn, XP_047276857.1:p.Ser176Thr, XP_047276865.1:p.Ser176Asn, XP_047276865.1:p.Ser176Thr

Select item 146529488811.

rs1465294888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:207761318 (GRCh38)
1:207934663 (GRCh37)
Canonical SPDI:: NC_000001.11:207761317:A:T
Gene:: CD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207761318A>T, NC_000001.10:g.207934663A>T, NG_009296.1:g.14262A>T, NM_002389.4:c.545A>T, NM_153826.4:c.545A>T, NM_153826.3:c.545A>T, NM_172351.3:c.545A>T, NM_172351.2:c.545A>T, NM_172355.3:c.545A>T, NM_172355.2:c.545A>T, NM_172355.1:c.545A>T, NM_172352.3:c.545A>T, NM_172352.2:c.545A>T, NM_172359.3:c.545A>T, NM_172359.2:c.545A>T, NM_172357.3:c.545A>T, NM_172357.2:c.545A>T, NM_172357.1:c.545A>T, NM_172358.3:c.545A>T, NM_172358.2:c.545A>T, NM_172358.1:c.545A>T, NM_172356.3:c.545A>T, NM_172356.2:c.545A>T, NM_172356.1:c.545A>T, NM_172353.3:c.545A>T, NM_172353.2:c.545A>T, NM_172361.3:c.545A>T, NM_172361.2:c.545A>T, NM_172350.3:c.545A>T, NM_172350.2:c.545A>T, XM_011509563.3:c.545A>T, XM_011509563.2:c.545A>T, XM_011509563.1:c.545A>T, NM_172354.1:c.545A>T, NM_172360.1:c.545A>T, XM_047420888.1:c.545A>T, XM_047420894.1:c.545A>T, XM_047420901.1:c.545A>T, XM_047420909.1:c.545A>T, NP_002380.3:p.Glu182Val, NP_722548.1:p.Glu182Val, NP_758861.1:p.Glu182Val, NP_758865.1:p.Glu182Val, NP_758862.1:p.Glu182Val, NP_758869.1:p.Glu182Val, NP_758867.1:p.Glu182Val, NP_758868.1:p.Glu182Val, NP_758866.1:p.Glu182Val, NP_758863.1:p.Glu182Val, NP_758871.1:p.Glu182Val, NP_758860.1:p.Glu182Val, XP_011507865.1:p.Glu182Val, XP_047276844.1:p.Glu182Val, XP_047276850.1:p.Glu182Val, XP_047276857.1:p.Glu182Val, XP_047276865.1:p.Glu182Val

Select item 146478338412.

rs1464783384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:207757567 (GRCh38)
1:207930912 (GRCh37)
Canonical SPDI:: NC_000001.11:207757566:C:A
Gene:: CD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207757567C>A, NC_000001.10:g.207930912C>A, NG_009296.1:g.10511C>A, NM_002389.4:c.314C>A, NM_153826.4:c.314C>A, NM_153826.3:c.314C>A, NM_172351.3:c.314C>A, NM_172351.2:c.314C>A, NM_172355.3:c.314C>A, NM_172355.2:c.314C>A, NM_172355.1:c.314C>A, NM_172352.3:c.314C>A, NM_172352.2:c.314C>A, NM_172359.3:c.314C>A, NM_172359.2:c.314C>A, NM_172357.3:c.314C>A, NM_172357.2:c.314C>A, NM_172357.1:c.314C>A, NM_172358.3:c.314C>A, NM_172358.2:c.314C>A, NM_172358.1:c.314C>A, NM_172356.3:c.314C>A, NM_172356.2:c.314C>A, NM_172356.1:c.314C>A, NM_172353.3:c.314C>A, NM_172353.2:c.314C>A, NM_172361.3:c.314C>A, NM_172361.2:c.314C>A, NM_172350.3:c.314C>A, NM_172350.2:c.314C>A, XM_011509563.3:c.314C>A, XM_011509563.2:c.314C>A, XM_011509563.1:c.314C>A, NM_172354.1:c.314C>A, NM_172360.1:c.314C>A, XM_047420888.1:c.314C>A, XM_047420894.1:c.314C>A, XM_047420901.1:c.314C>A, XM_047420909.1:c.314C>A, NP_002380.3:p.Pro105His, NP_722548.1:p.Pro105His, NP_758861.1:p.Pro105His, NP_758865.1:p.Pro105His, NP_758862.1:p.Pro105His, NP_758869.1:p.Pro105His, NP_758867.1:p.Pro105His, NP_758868.1:p.Pro105His, NP_758866.1:p.Pro105His, NP_758863.1:p.Pro105His, NP_758871.1:p.Pro105His, NP_758860.1:p.Pro105His, XP_011507865.1:p.Pro105His, XP_047276844.1:p.Pro105His, XP_047276850.1:p.Pro105His, XP_047276857.1:p.Pro105His, XP_047276865.1:p.Pro105His

Select item 146192731813.

rs1461927318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:207767072 (GRCh38)
1:207940417 (GRCh37)
Canonical SPDI:: NC_000001.11:207767071:A:C
Gene:: CD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.207767072A>C, NC_000001.10:g.207940417A>C, NG_009296.1:g.20016A>C, NM_002389.4:c.733A>C, NM_153826.4:c.733A>C, NM_153826.3:c.733A>C, NM_172351.3:c.733A>C, NM_172351.2:c.733A>C, NM_172355.3:c.733A>C, NM_172355.2:c.733A>C, NM_172355.1:c.733A>C, NM_172352.3:c.733A>C, NM_172352.2:c.733A>C, NM_172359.3:c.733A>C, NM_172359.2:c.733A>C, NM_172357.3:c.733A>C, NM_172357.2:c.733A>C, NM_172357.1:c.733A>C, NM_172358.3:c.733A>C, NM_172358.2:c.733A>C, NM_172358.1:c.733A>C, NM_172356.3:c.733A>C, NM_172356.2:c.733A>C, NM_172356.1:c.733A>C, NM_172353.3:c.733A>C, NM_172353.2:c.733A>C, NM_172361.3:c.733A>C, NM_172361.2:c.733A>C, NM_172350.3:c.733A>C, NM_172350.2:c.733A>C, XM_011509563.3:c.733A>C, XM_011509563.2:c.733A>C, XM_011509563.1:c.733A>C, NM_172354.1:c.733A>C, NM_172360.1:c.733A>C, XM_047420888.1:c.733A>C, XM_047420894.1:c.733A>C, XM_047420901.1:c.733A>C, XM_047420909.1:c.733A>C, NP_002380.3:p.Lys245Gln, NP_722548.1:p.Lys245Gln, NP_758861.1:p.Lys245Gln, NP_758865.1:p.Lys245Gln, NP_758862.1:p.Lys245Gln, NP_758869.1:p.Lys245Gln, NP_758867.1:p.Lys245Gln, NP_758868.1:p.Lys245Gln, NP_758866.1:p.Lys245Gln, NP_758863.1:p.Lys245Gln, NP_758871.1:p.Lys245Gln, NP_758860.1:p.Lys245Gln, XP_011507865.1:p.Lys245Gln, XP_047276844.1:p.Lys245Gln, XP_047276850.1:p.Lys245Gln, XP_047276857.1:p.Lys245Gln, XP_047276865.1:p.Lys245Gln

Select item 145782764014.

rs1457827640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207761354 (GRCh38)
1:207934699 (GRCh37)
Canonical SPDI:: NC_000001.11:207761353:C:T
Gene:: CD46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207761354C>T, NC_000001.10:g.207934699C>T, NG_009296.1:g.14298C>T, NM_002389.4:c.581C>T, NM_153826.4:c.581C>T, NM_153826.3:c.581C>T, NM_172351.3:c.581C>T, NM_172351.2:c.581C>T, NM_172355.3:c.581C>T, NM_172355.2:c.581C>T, NM_172355.1:c.581C>T, NM_172352.3:c.581C>T, NM_172352.2:c.581C>T, NM_172359.3:c.581C>T, NM_172359.2:c.581C>T, NM_172357.3:c.581C>T, NM_172357.2:c.581C>T, NM_172357.1:c.581C>T, NM_172358.3:c.581C>T, NM_172358.2:c.581C>T, NM_172358.1:c.581C>T, NM_172356.3:c.581C>T, NM_172356.2:c.581C>T, NM_172356.1:c.581C>T, NM_172353.3:c.581C>T, NM_172353.2:c.581C>T, NM_172361.3:c.581C>T, NM_172361.2:c.581C>T, NM_172350.3:c.581C>T, NM_172350.2:c.581C>T, XM_011509563.3:c.581C>T, XM_011509563.2:c.581C>T, XM_011509563.1:c.581C>T, NM_172354.1:c.581C>T, NM_172360.1:c.581C>T, XM_047420888.1:c.581C>T, XM_047420894.1:c.581C>T, XM_047420901.1:c.581C>T, XM_047420909.1:c.581C>T, NP_002380.3:p.Ala194Val, NP_722548.1:p.Ala194Val, NP_758861.1:p.Ala194Val, NP_758865.1:p.Ala194Val, NP_758862.1:p.Ala194Val, NP_758869.1:p.Ala194Val, NP_758867.1:p.Ala194Val, NP_758868.1:p.Ala194Val, NP_758866.1:p.Ala194Val, NP_758863.1:p.Ala194Val, NP_758871.1:p.Ala194Val, NP_758860.1:p.Ala194Val, XP_011507865.1:p.Ala194Val, XP_047276844.1:p.Ala194Val, XP_047276850.1:p.Ala194Val, XP_047276857.1:p.Ala194Val, XP_047276865.1:p.Ala194Val

Select item 145522632315.

rs1455226323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:207759679 (GRCh38)
1:207933024 (GRCh37)
Canonical SPDI:: NC_000001.11:207759678:A:C
Gene:: CD46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207759679A>C, NC_000001.10:g.207933024A>C, NG_009296.1:g.12623A>C, NM_002389.4:c.430A>C, NM_153826.4:c.430A>C, NM_153826.3:c.430A>C, NM_172351.3:c.430A>C, NM_172351.2:c.430A>C, NM_172355.3:c.430A>C, NM_172355.2:c.430A>C, NM_172355.1:c.430A>C, NM_172352.3:c.430A>C, NM_172352.2:c.430A>C, NM_172359.3:c.430A>C, NM_172359.2:c.430A>C, NM_172357.3:c.430A>C, NM_172357.2:c.430A>C, NM_172357.1:c.430A>C, NM_172358.3:c.430A>C, NM_172358.2:c.430A>C, NM_172358.1:c.430A>C, NM_172356.3:c.430A>C, NM_172356.2:c.430A>C, NM_172356.1:c.430A>C, NM_172353.3:c.430A>C, NM_172353.2:c.430A>C, NM_172361.3:c.430A>C, NM_172361.2:c.430A>C, NM_172350.3:c.430A>C, NM_172350.2:c.430A>C, XM_011509563.3:c.430A>C, XM_011509563.2:c.430A>C, XM_011509563.1:c.430A>C, NM_172354.1:c.430A>C, NM_172360.1:c.430A>C, XM_047420888.1:c.430A>C, XM_047420894.1:c.430A>C, XM_047420901.1:c.430A>C, XM_047420909.1:c.430A>C, NP_002380.3:p.Lys144Gln, NP_722548.1:p.Lys144Gln, NP_758861.1:p.Lys144Gln, NP_758865.1:p.Lys144Gln, NP_758862.1:p.Lys144Gln, NP_758869.1:p.Lys144Gln, NP_758867.1:p.Lys144Gln, NP_758868.1:p.Lys144Gln, NP_758866.1:p.Lys144Gln, NP_758863.1:p.Lys144Gln, NP_758871.1:p.Lys144Gln, NP_758860.1:p.Lys144Gln, XP_011507865.1:p.Lys144Gln, XP_047276844.1:p.Lys144Gln, XP_047276850.1:p.Lys144Gln, XP_047276857.1:p.Lys144Gln, XP_047276865.1:p.Lys144Gln

Select item 145445887016.

rs1454458870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:207757116 (GRCh38)
1:207930461 (GRCh37)
Canonical SPDI:: NC_000001.11:207757115:G:T
Gene:: CD46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207757116G>T, NC_000001.10:g.207930461G>T, NG_009296.1:g.10060G>T, NM_002389.4:c.200G>T, NM_153826.4:c.200G>T, NM_153826.3:c.200G>T, NM_172351.3:c.200G>T, NM_172351.2:c.200G>T, NM_172355.3:c.200G>T, NM_172355.2:c.200G>T, NM_172355.1:c.200G>T, NM_172352.3:c.200G>T, NM_172352.2:c.200G>T, NM_172359.3:c.200G>T, NM_172359.2:c.200G>T, NM_172357.3:c.200G>T, NM_172357.2:c.200G>T, NM_172357.1:c.200G>T, NM_172358.3:c.200G>T, NM_172358.2:c.200G>T, NM_172358.1:c.200G>T, NM_172356.3:c.200G>T, NM_172356.2:c.200G>T, NM_172356.1:c.200G>T, NM_172353.3:c.200G>T, NM_172353.2:c.200G>T, NM_172361.3:c.200G>T, NM_172361.2:c.200G>T, NM_172350.3:c.200G>T, NM_172350.2:c.200G>T, XM_011509563.3:c.200G>T, XM_011509563.2:c.200G>T, XM_011509563.1:c.200G>T, NM_172354.1:c.200G>T, NM_172360.1:c.200G>T, XM_047420888.1:c.200G>T, XM_047420894.1:c.200G>T, XM_047420901.1:c.200G>T, XM_047420909.1:c.200G>T, NP_002380.3:p.Gly67Val, NP_722548.1:p.Gly67Val, NP_758861.1:p.Gly67Val, NP_758865.1:p.Gly67Val, NP_758862.1:p.Gly67Val, NP_758869.1:p.Gly67Val, NP_758867.1:p.Gly67Val, NP_758868.1:p.Gly67Val, NP_758866.1:p.Gly67Val, NP_758863.1:p.Gly67Val, NP_758871.1:p.Gly67Val, NP_758860.1:p.Gly67Val, XP_011507865.1:p.Gly67Val, XP_047276844.1:p.Gly67Val, XP_047276850.1:p.Gly67Val, XP_047276857.1:p.Gly67Val, XP_047276865.1:p.Gly67Val

Select item 145259343217.

rs1452593432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207767622 (GRCh38)
1:207940967 (GRCh37)
Canonical SPDI:: NC_000001.11:207767621:G:A
Gene:: CD46 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207767622G>A, NC_000001.10:g.207940967G>A, NG_009296.1:g.20566G>A, NM_002389.4:c.872G>A, NM_172359.3:c.872G>A, NM_172359.2:c.872G>A, XM_011509563.3:c.872G>A, XM_011509563.2:c.872G>A, XM_011509563.1:c.872G>A, NM_172354.1:c.872G>A, NM_172360.1:c.872G>A, XM_047420888.1:c.872G>A, NP_002380.3:p.Ser291Asn, NP_758869.1:p.Ser291Asn, XP_011507865.1:p.Ser291Asn, XP_047276844.1:p.Ser291Asn

Select item 144934345518.

rs1449343455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207757590 (GRCh38)
1:207930935 (GRCh37)
Canonical SPDI:: NC_000001.11:207757589:G:A
Gene:: CD46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207757590G>A, NC_000001.10:g.207930935G>A, NG_009296.1:g.10534G>A, NM_002389.4:c.337G>A, NM_153826.4:c.337G>A, NM_153826.3:c.337G>A, NM_172351.3:c.337G>A, NM_172351.2:c.337G>A, NM_172355.3:c.337G>A, NM_172355.2:c.337G>A, NM_172355.1:c.337G>A, NM_172352.3:c.337G>A, NM_172352.2:c.337G>A, NM_172359.3:c.337G>A, NM_172359.2:c.337G>A, NM_172357.3:c.337G>A, NM_172357.2:c.337G>A, NM_172357.1:c.337G>A, NM_172358.3:c.337G>A, NM_172358.2:c.337G>A, NM_172358.1:c.337G>A, NM_172356.3:c.337G>A, NM_172356.2:c.337G>A, NM_172356.1:c.337G>A, NM_172353.3:c.337G>A, NM_172353.2:c.337G>A, NM_172361.3:c.337G>A, NM_172361.2:c.337G>A, NM_172350.3:c.337G>A, NM_172350.2:c.337G>A, XM_011509563.3:c.337G>A, XM_011509563.2:c.337G>A, XM_011509563.1:c.337G>A, NM_172354.1:c.337G>A, NM_172360.1:c.337G>A, XM_047420888.1:c.337G>A, XM_047420894.1:c.337G>A, XM_047420901.1:c.337G>A, XM_047420909.1:c.337G>A, NP_002380.3:p.Ala113Thr, NP_722548.1:p.Ala113Thr, NP_758861.1:p.Ala113Thr, NP_758865.1:p.Ala113Thr, NP_758862.1:p.Ala113Thr, NP_758869.1:p.Ala113Thr, NP_758867.1:p.Ala113Thr, NP_758868.1:p.Ala113Thr, NP_758866.1:p.Ala113Thr, NP_758863.1:p.Ala113Thr, NP_758871.1:p.Ala113Thr, NP_758860.1:p.Ala113Thr, XP_011507865.1:p.Ala113Thr, XP_047276844.1:p.Ala113Thr, XP_047276850.1:p.Ala113Thr, XP_047276857.1:p.Ala113Thr, XP_047276865.1:p.Ala113Thr

Select item 144906009919.

rs1449060099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:207757551 (GRCh38)
1:207930896 (GRCh37)
Canonical SPDI:: NC_000001.11:207757550:C:G
Gene:: CD46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.207757551C>G, NC_000001.10:g.207930896C>G, NG_009296.1:g.10495C>G, NM_002389.4:c.298C>G, NM_153826.4:c.298C>G, NM_153826.3:c.298C>G, NM_172351.3:c.298C>G, NM_172351.2:c.298C>G, NM_172355.3:c.298C>G, NM_172355.2:c.298C>G, NM_172355.1:c.298C>G, NM_172352.3:c.298C>G, NM_172352.2:c.298C>G, NM_172359.3:c.298C>G, NM_172359.2:c.298C>G, NM_172357.3:c.298C>G, NM_172357.2:c.298C>G, NM_172357.1:c.298C>G, NM_172358.3:c.298C>G, NM_172358.2:c.298C>G, NM_172358.1:c.298C>G, NM_172356.3:c.298C>G, NM_172356.2:c.298C>G, NM_172356.1:c.298C>G, NM_172353.3:c.298C>G, NM_172353.2:c.298C>G, NM_172361.3:c.298C>G, NM_172361.2:c.298C>G, NM_172350.3:c.298C>G, NM_172350.2:c.298C>G, XM_011509563.3:c.298C>G, XM_011509563.2:c.298C>G, XM_011509563.1:c.298C>G, NM_172354.1:c.298C>G, NM_172360.1:c.298C>G, XM_047420888.1:c.298C>G, XM_047420894.1:c.298C>G, XM_047420901.1:c.298C>G, XM_047420909.1:c.298C>G, NP_002380.3:p.Pro100Ala, NP_722548.1:p.Pro100Ala, NP_758861.1:p.Pro100Ala, NP_758865.1:p.Pro100Ala, NP_758862.1:p.Pro100Ala, NP_758869.1:p.Pro100Ala, NP_758867.1:p.Pro100Ala, NP_758868.1:p.Pro100Ala, NP_758866.1:p.Pro100Ala, NP_758863.1:p.Pro100Ala, NP_758871.1:p.Pro100Ala, NP_758860.1:p.Pro100Ala, XP_011507865.1:p.Pro100Ala, XP_047276844.1:p.Pro100Ala, XP_047276850.1:p.Pro100Ala, XP_047276857.1:p.Pro100Ala, XP_047276865.1:p.Pro100Ala

Select item 144816538820.

rs1448165388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207767124 (GRCh38)
1:207940469 (GRCh37)
Canonical SPDI:: NC_000001.11:207767123:T:C
Gene:: CD46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207767124T>C, NC_000001.10:g.207940469T>C, NG_009296.1:g.20068T>C, NM_002389.4:c.785T>C, NM_153826.4:c.785T>C, NM_153826.3:c.785T>C, NM_172351.3:c.785T>C, NM_172351.2:c.785T>C, NM_172355.3:c.785T>C, NM_172355.2:c.785T>C, NM_172355.1:c.785T>C, NM_172352.3:c.785T>C, NM_172352.2:c.785T>C, NM_172359.3:c.785T>C, NM_172359.2:c.785T>C, NM_172357.3:c.785T>C, NM_172357.2:c.785T>C, NM_172357.1:c.785T>C, NM_172358.3:c.785T>C, NM_172358.2:c.785T>C, NM_172358.1:c.785T>C, NM_172356.3:c.785T>C, NM_172356.2:c.785T>C, NM_172356.1:c.785T>C, NM_172353.3:c.785T>C, NM_172353.2:c.785T>C, NM_172361.3:c.785T>C, NM_172361.2:c.785T>C, NM_172350.3:c.785T>C, NM_172350.2:c.785T>C, XM_011509563.3:c.785T>C, XM_011509563.2:c.785T>C, XM_011509563.1:c.785T>C, NM_172354.1:c.785T>C, NM_172360.1:c.785T>C, XM_047420888.1:c.785T>C, XM_047420894.1:c.785T>C, XM_047420901.1:c.785T>C, XM_047420909.1:c.785T>C, NP_002380.3:p.Leu262Pro, NP_722548.1:p.Leu262Pro, NP_758861.1:p.Leu262Pro, NP_758865.1:p.Leu262Pro, NP_758862.1:p.Leu262Pro, NP_758869.1:p.Leu262Pro, NP_758867.1:p.Leu262Pro, NP_758868.1:p.Leu262Pro, NP_758866.1:p.Leu262Pro, NP_758863.1:p.Leu262Pro, NP_758871.1:p.Leu262Pro, NP_758860.1:p.Leu262Pro, XP_011507865.1:p.Leu262Pro, XP_047276844.1:p.Leu262Pro, XP_047276850.1:p.Leu262Pro, XP_047276857.1:p.Leu262Pro, XP_047276865.1:p.Leu262Pro

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