SNP Links for Protein (Select 530423779) - SNP

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Links from Protein

Items: 1 to 20 of 478

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Select item 14901104201.

rs1490110420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56408066 (GRCh38)
16:56441978 (GRCh37)
Canonical SPDI:: NC_000016.10:56408065:G:A
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56408066G>A, NC_000016.9:g.56441978G>A, NG_047034.1:g.22473C>T, NM_001144.6:c.564C>T, NM_001144.5:c.564C>T, NM_001323512.2:c.564C>T, NM_001323512.1:c.564C>T, NM_001323511.2:c.279C>T, NM_001323511.1:c.279C>T, XM_005255890.5:c.279C>T, XM_005255890.4:c.279C>T, XM_005255890.3:c.279C>T, XM_005255890.2:c.279C>T, XM_005255890.1:c.279C>T, NM_138958.1:c.564C>T

Select item 14881948792.

rs1488194879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56389256 (GRCh38)
16:56423168 (GRCh37)
Canonical SPDI:: NC_000016.10:56389255:T:C
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56389256T>C, NC_000016.9:g.56423168T>C, NG_047034.1:g.41283A>G, NM_001144.6:c.1205A>G, NM_001144.5:c.1205A>G, NM_001323512.2:c.1205A>G, NM_001323512.1:c.1205A>G, NM_001323511.2:c.920A>G, NM_001323511.1:c.920A>G, XM_005255890.5:c.920A>G, XM_005255890.4:c.920A>G, XM_005255890.3:c.920A>G, XM_005255890.2:c.920A>G, XM_005255890.1:c.920A>G, NP_001135.3:p.Asn402Ser, NP_001310441.1:p.Asn402Ser, NP_001310440.1:p.Asn307Ser, XP_005255947.1:p.Asn307Ser

Select item 14876274933.

rs1487627493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:56362932 (GRCh38)
16:56396844 (GRCh37)
Canonical SPDI:: NC_000016.10:56362931:G:C
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.56362932G>C, NC_000016.9:g.56396844G>C, NG_047034.1:g.67607C>G, NM_001144.6:c.1909C>G, NM_001144.5:c.1909C>G, NM_001323512.2:c.2005C>G, NM_001323512.1:c.2005C>G, NM_001323511.2:c.1624C>G, NM_001323511.1:c.1624C>G, XM_005255890.5:c.1624C>G, XM_005255890.4:c.1624C>G, XM_005255890.3:c.1624C>G, XM_005255890.2:c.1624C>G, XM_005255890.1:c.1624C>G, NM_138958.1:c.*593C>G, NP_001135.3:p.Leu637Val, NP_001310441.1:p.Leu669Val, NP_001310440.1:p.Leu542Val, XP_005255947.1:p.Leu542Val

Select item 14858464874.

rs1485846487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56367498 (GRCh38)
16:56401410 (GRCh37)
Canonical SPDI:: NC_000016.10:56367497:G:A
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.56367498G>A, NC_000016.9:g.56401410G>A, NG_047034.1:g.63041C>T, NM_001144.6:c.1545C>T, NM_001144.5:c.1545C>T, NM_001323512.2:c.1641C>T, NM_001323512.1:c.1641C>T, NM_001323511.2:c.1260C>T, NM_001323511.1:c.1260C>T, XM_005255890.5:c.1260C>T, XM_005255890.4:c.1260C>T, XM_005255890.3:c.1260C>T, XM_005255890.2:c.1260C>T, XM_005255890.1:c.1260C>T, NM_138958.1:c.*229C>T

Select item 14812528095.

rs1481252809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56409511 (GRCh38)
16:56443423 (GRCh37)
Canonical SPDI:: NC_000016.10:56409510:C:T
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.56409511C>T, NC_000016.9:g.56443423C>T, NG_047034.1:g.21028G>A, NM_001144.6:c.426G>A, NM_001144.5:c.426G>A, NM_001323512.2:c.426G>A, NM_001323512.1:c.426G>A, NM_001323511.2:c.141G>A, NM_001323511.1:c.141G>A, XM_005255890.5:c.141G>A, XM_005255890.4:c.141G>A, XM_005255890.3:c.141G>A, XM_005255890.2:c.141G>A, XM_005255890.1:c.141G>A, NM_138958.1:c.426G>A

Select item 14791494576.

rs1479149457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:56409538 (GRCh38)
16:56443450 (GRCh37)
Canonical SPDI:: NC_000016.10:56409537:G:T
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.56409538G>T, NC_000016.9:g.56443450G>T, NG_047034.1:g.21001C>A, NM_001144.6:c.399C>A, NM_001144.5:c.399C>A, NM_001323512.2:c.399C>A, NM_001323512.1:c.399C>A, NM_001323511.2:c.114C>A, NM_001323511.1:c.114C>A, XM_005255890.5:c.114C>A, XM_005255890.4:c.114C>A, XM_005255890.3:c.114C>A, XM_005255890.2:c.114C>A, XM_005255890.1:c.114C>A, NM_138958.1:c.399C>A

Select item 14775446217.

rs1477544621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56401769 (GRCh38)
16:56435681 (GRCh37)
Canonical SPDI:: NC_000016.10:56401768:G:A
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.56401769G>A, NC_000016.9:g.56435681G>A, NG_047034.1:g.28770C>T, NM_001144.6:c.1049C>T, NM_001144.5:c.1049C>T, NM_001323512.2:c.1049C>T, NM_001323512.1:c.1049C>T, NM_001323511.2:c.764C>T, NM_001323511.1:c.764C>T, XM_005255890.5:c.764C>T, XM_005255890.4:c.764C>T, XM_005255890.3:c.764C>T, XM_005255890.2:c.764C>T, XM_005255890.1:c.764C>T, NM_138958.1:c.1049C>T, NP_001135.3:p.Ala350Val, NP_001310441.1:p.Ala350Val, NP_001310440.1:p.Ala255Val, XP_005255947.1:p.Ala255Val

Select item 14769876168.

rs1476987616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:56369265 (GRCh38)
16:56403177 (GRCh37)
Canonical SPDI:: NC_000016.10:56369264:C:A
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00009/1 (ALFA)
HGVS:: NC_000016.10:g.56369265C>A, NC_000016.9:g.56403177C>A, NG_047034.1:g.61274G>T, NM_001144.6:c.1443G>T, NM_001144.5:c.1443G>T, NM_001323512.2:c.1539G>T, NM_001323512.1:c.1539G>T, NM_001323511.2:c.1158G>T, NM_001323511.1:c.1158G>T, XM_005255890.5:c.1158G>T, XM_005255890.4:c.1158G>T, XM_005255890.3:c.1158G>T, XM_005255890.2:c.1158G>T, XM_005255890.1:c.1158G>T, NM_138958.1:c.*127G>T, NP_001135.3:p.Gln481His, NP_001310441.1:p.Gln513His, NP_001310440.1:p.Gln386His, XP_005255947.1:p.Gln386His

Select item 14744008609.

rs1474400860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:56369315 (GRCh38)
16:56403227 (GRCh37)
Canonical SPDI:: NC_000016.10:56369314:G:C
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.56369315G>C, NC_000016.9:g.56403227G>C, NG_047034.1:g.61224C>G, NM_001144.6:c.1393C>G, NM_001144.5:c.1393C>G, NM_001323512.2:c.1489C>G, NM_001323512.1:c.1489C>G, NM_001323511.2:c.1108C>G, NM_001323511.1:c.1108C>G, XM_005255890.5:c.1108C>G, XM_005255890.4:c.1108C>G, XM_005255890.3:c.1108C>G, XM_005255890.2:c.1108C>G, XM_005255890.1:c.1108C>G, NM_138958.1:c.*77C>G, NP_001135.3:p.Gln465Glu, NP_001310441.1:p.Gln497Glu, NP_001310440.1:p.Gln370Glu, XP_005255947.1:p.Gln370Glu

Select item 146830927910.

rs1468309279 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCT>- [Show Flanks]
Chromosome:: 16:56362923 (GRCh38)
16:56396835 (GRCh37)
Canonical SPDI:: NC_000016.10:56362917:CTGCTGCT:CTGCT
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56362920GCT[1], NC_000016.9:g.56396832GCT[1], NG_047034.1:g.67616CAG[1], NM_001144.6:c.1918CAG[1], NM_001144.5:c.1918CAG[1], NM_001323512.2:c.2014CAG[1], NM_001323512.1:c.2014CAG[1], NM_001323511.2:c.1633CAG[1], NM_001323511.1:c.1633CAG[1], XM_005255890.5:c.1633CAG[1], XM_005255890.4:c.1633CAG[1], XM_005255890.3:c.1633CAG[1], XM_005255890.2:c.1633CAG[1], XM_005255890.1:c.1633CAG[1], NM_138958.1:c.*602CAG[1], NP_001135.3:p.Gln641del, NP_001310441.1:p.Gln673del, NP_001310440.1:p.Gln546del, XP_005255947.1:p.Gln546del

Select item 146814726111.

rs1468147261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56409434 (GRCh38)
16:56443346 (GRCh37)
Canonical SPDI:: NC_000016.10:56409433:C:T
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.56409434C>T, NC_000016.9:g.56443346C>T, NG_047034.1:g.21105G>A, NM_001144.6:c.503G>A, NM_001144.5:c.503G>A, NM_001323512.2:c.503G>A, NM_001323512.1:c.503G>A, NM_001323511.2:c.218G>A, NM_001323511.1:c.218G>A, XM_005255890.5:c.218G>A, XM_005255890.4:c.218G>A, XM_005255890.3:c.218G>A, XM_005255890.2:c.218G>A, XM_005255890.1:c.218G>A, NM_138958.1:c.503G>A, NP_001135.3:p.Arg168Gln, NP_001310441.1:p.Arg168Gln, NP_001310440.1:p.Arg73Gln, XP_005255947.1:p.Arg73Gln

Select item 146723665412.

rs1467236654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:56403108 (GRCh38)
16:56437020 (GRCh37)
Canonical SPDI:: NC_000016.10:56403107:T:G
Gene:: AMFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56403108T>G, NC_000016.9:g.56437020T>G, NG_047034.1:g.27431A>C, NM_001144.6:c.851A>C, NM_001144.5:c.851A>C, NM_001323512.2:c.851A>C, NM_001323512.1:c.851A>C, NM_001323511.2:c.566A>C, NM_001323511.1:c.566A>C, XM_005255890.5:c.566A>C, XM_005255890.4:c.566A>C, XM_005255890.3:c.566A>C, XM_005255890.2:c.566A>C, XM_005255890.1:c.566A>C, NM_138958.1:c.851A>C, NP_001135.3:p.Asn284Thr, NP_001310441.1:p.Asn284Thr, NP_001310440.1:p.Asn189Thr, XP_005255947.1:p.Asn189Thr

Select item 146189812513.

rs1461898125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56408116 (GRCh38)
16:56442028 (GRCh37)
Canonical SPDI:: NC_000016.10:56408115:G:A
Gene:: AMFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.56408116G>A, NC_000016.9:g.56442028G>A, NG_047034.1:g.22423C>T, NM_001144.6:c.514C>T, NM_001144.5:c.514C>T, NM_001323512.2:c.514C>T, NM_001323512.1:c.514C>T, NM_001323511.2:c.229C>T, NM_001323511.1:c.229C>T, XM_005255890.5:c.229C>T, XM_005255890.4:c.229C>T, XM_005255890.3:c.229C>T, XM_005255890.2:c.229C>T, XM_005255890.1:c.229C>T, NM_138958.1:c.514C>T, NP_001135.3:p.Leu172Phe, NP_001310441.1:p.Leu172Phe, NP_001310440.1:p.Leu77Phe, XP_005255947.1:p.Leu77Phe

Select item 146147775114.

rs1461477751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:56409564 (GRCh38)
16:56443476 (GRCh37)
Canonical SPDI:: NC_000016.10:56409563:A:G
Gene:: AMFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56409564A>G, NC_000016.9:g.56443476A>G, NG_047034.1:g.20975T>C, NM_001144.6:c.373T>C, NM_001144.5:c.373T>C, NM_001323512.2:c.373T>C, NM_001323512.1:c.373T>C, NM_001323511.2:c.88T>C, NM_001323511.1:c.88T>C, XM_005255890.5:c.88T>C, XM_005255890.4:c.88T>C, XM_005255890.3:c.88T>C, XM_005255890.2:c.88T>C, XM_005255890.1:c.88T>C, NM_138958.1:c.373T>C, NP_001135.3:p.Phe125Leu, NP_001310441.1:p.Phe125Leu, NP_001310440.1:p.Phe30Leu, XP_005255947.1:p.Phe30Leu

Select item 146084094915.

rs1460840949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56408047 (GRCh38)
16:56441959 (GRCh37)
Canonical SPDI:: NC_000016.10:56408046:G:A
Gene:: AMFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000016.10:g.56408047G>A, NC_000016.9:g.56441959G>A, NG_047034.1:g.22492C>T, NM_001144.6:c.583C>T, NM_001144.5:c.583C>T, NM_001323512.2:c.583C>T, NM_001323512.1:c.583C>T, NM_001323511.2:c.298C>T, NM_001323511.1:c.298C>T, XM_005255890.5:c.298C>T, XM_005255890.4:c.298C>T, XM_005255890.3:c.298C>T, XM_005255890.2:c.298C>T, XM_005255890.1:c.298C>T, NM_138958.1:c.583C>T, NP_001135.3:p.Leu195Phe, NP_001310441.1:p.Leu195Phe, NP_001310440.1:p.Leu100Phe, XP_005255947.1:p.Leu100Phe

Select item 145928667316.

rs1459286673 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:56363949 (GRCh38)
16:56397862 (GRCh37)
Canonical SPDI:: NC_000016.10:56363949:A:AA
Gene:: AMFR (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000049/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.00008/1 (GoESP)
HGVS:: NC_000016.10:g.56363950dup, NC_000016.9:g.56397862dup, NG_047034.1:g.66589dup, NM_001144.6:c.1755dup, NM_001144.5:c.1755dup, NM_001323512.2:c.1851dup, NM_001323512.1:c.1851dup, NM_001323511.2:c.1470dup, NM_001323511.1:c.1470dup, XM_005255890.5:c.1470dup, XM_005255890.4:c.1470dup, XM_005255890.3:c.1470dup, XM_005255890.2:c.1470dup, XM_005255890.1:c.1470dup, NM_138958.1:c.*439dup, NP_001135.3:p.Lys586Ter, NP_001310441.1:p.Lys618Ter, NP_001310440.1:p.Lys491Ter, XP_005255947.1:p.Lys491Ter

Select item 145787536017.

rs1457875360 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56363929 (GRCh38)
16:56397841 (GRCh37)
Canonical SPDI:: NC_000016.10:56363928:T:C
Gene:: AMFR (Varview)
Functional Consequence:: synonymous_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_000016.10:g.56363929T>C, NC_000016.9:g.56397841T>C, NG_047034.1:g.66610A>G, NM_001144.6:c.1776A>G, NM_001144.5:c.1776A>G, NM_001323512.2:c.1872A>G, NM_001323512.1:c.1872A>G, NM_001323511.2:c.1491A>G, NM_001323511.1:c.1491A>G, XM_005255890.5:c.1491A>G, XM_005255890.4:c.1491A>G, XM_005255890.3:c.1491A>G, XM_005255890.2:c.1491A>G, XM_005255890.1:c.1491A>G, NM_138958.1:c.*460A>G

Select item 145558966218.

rs1455589662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56367455 (GRCh38)
16:56401367 (GRCh37)
Canonical SPDI:: NC_000016.10:56367454:T:C
Gene:: AMFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.56367455T>C, NC_000016.9:g.56401367T>C, NG_047034.1:g.63084A>G, NM_001144.6:c.1588A>G, NM_001144.5:c.1588A>G, NM_001323512.2:c.1684A>G, NM_001323512.1:c.1684A>G, NM_001323511.2:c.1303A>G, NM_001323511.1:c.1303A>G, XM_005255890.5:c.1303A>G, XM_005255890.4:c.1303A>G, XM_005255890.3:c.1303A>G, XM_005255890.2:c.1303A>G, XM_005255890.1:c.1303A>G, NM_138958.1:c.*272A>G, NP_001135.3:p.Thr530Ala, NP_001310441.1:p.Thr562Ala, NP_001310440.1:p.Thr435Ala, XP_005255947.1:p.Thr435Ala

Select item 145529827119.

rs1455298271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56389193 (GRCh38)
16:56423105 (GRCh37)
Canonical SPDI:: NC_000016.10:56389192:T:C
Gene:: AMFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56389193T>C, NC_000016.9:g.56423105T>C, NG_047034.1:g.41346A>G, NM_001144.6:c.1268A>G, NM_001144.5:c.1268A>G, NM_001323512.2:c.1268A>G, NM_001323512.1:c.1268A>G, NM_001323511.2:c.983A>G, NM_001323511.1:c.983A>G, XM_005255890.5:c.983A>G, XM_005255890.4:c.983A>G, XM_005255890.3:c.983A>G, XM_005255890.2:c.983A>G, XM_005255890.1:c.983A>G, NP_001135.3:p.His423Arg, NP_001310441.1:p.His423Arg, NP_001310440.1:p.His328Arg, XP_005255947.1:p.His328Arg

Select item 145442006320.

rs1454420063 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 16:56363938 (GRCh38)
16:56397850 (GRCh37)
Canonical SPDI:: NC_000016.10:56363933:GGAGGAG:GGAG
Gene:: AMFR (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56363935GAG[1], NC_000016.9:g.56397847GAG[1], NG_047034.1:g.66600TCC[1], NM_001144.6:c.1766TCC[1], NM_001144.5:c.1766TCC[1], NM_001323512.2:c.1862TCC[1], NM_001323512.1:c.1862TCC[1], NM_001323511.2:c.1481TCC[1], NM_001323511.1:c.1481TCC[1], XM_005255890.5:c.1481TCC[1], XM_005255890.4:c.1481TCC[1], XM_005255890.3:c.1481TCC[1], XM_005255890.2:c.1481TCC[1], XM_005255890.1:c.1481TCC[1], NM_138958.1:c.*450TCC[1], NP_001135.3:p.Leu590del, NP_001310441.1:p.Leu622del, NP_001310440.1:p.Leu495del, XP_005255947.1:p.Leu495del

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