SNP Links for Protein (Select 770478876) - SNP

Select item 14564276981.

rs1456427698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:79973844 (GRCh38)
18:77733844 (GRCh37)
Canonical SPDI:: NC_000018.10:79973843:G:A
Gene:: TXNL4A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.79973844G>A, NC_000018.9:g.77733844G>A, NG_042061.1:g.65092C>T, NM_006701.5:c.270C>T, NM_006701.4:c.270C>T, NM_006701.3:c.270C>T, NM_006701.2:c.270C>T, NM_001303471.3:c.153C>T, NM_001303471.2:c.153C>T, NM_001303471.1:c.153C>T, NR_131175.2:n.660C>T, NR_131175.1:n.689C>T, NR_131176.2:n.511C>T, NR_131176.1:n.540C>T, NM_001305557.2:c.246C>T, NM_001305557.1:c.246C>T, NR_131177.2:n.337C>T, NR_131177.1:n.366C>T, NM_001305563.2:c.57C>T, NM_001305563.1:c.57C>T, NM_001305564.2:c.57C>T, NM_001305564.1:c.57C>T

Select item 14509944892.

rs1450994489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:79973705 (GRCh38)
18:77733705 (GRCh37)
Canonical SPDI:: NC_000018.10:79973704:A:C
Gene:: TXNL4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.79973705A>C, NC_000018.9:g.77733705A>C, NG_042061.1:g.65231T>G, NM_006701.5:c.409T>G, NM_006701.4:c.409T>G, NM_006701.3:c.409T>G, NM_006701.2:c.409T>G, NM_001303471.3:c.292T>G, NM_001303471.2:c.292T>G, NM_001303471.1:c.292T>G, NR_131175.2:n.799T>G, NR_131175.1:n.828T>G, NR_131176.2:n.650T>G, NR_131176.1:n.679T>G, NM_001305557.2:c.385T>G, NM_001305557.1:c.385T>G, NR_131177.2:n.476T>G, NR_131177.1:n.505T>G, NM_001305563.2:c.196T>G, NM_001305563.1:c.196T>G, NM_001305564.2:c.196T>G, NM_001305564.1:c.196T>G, NP_006692.1:p.Ser137Ala, NP_001290400.1:p.Ser98Ala, NP_001292486.1:p.Ser129Ala, NP_001292492.1:p.Ser66Ala, NP_001292493.1:p.Ser66Ala

Select item 14451699043.

rs1445169904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 18:79973766 (GRCh38)
18:77733766 (GRCh37)
Canonical SPDI:: NC_000018.10:79973765:G:A,NC_000018.10:79973765:G:C,NC_000018.10:79973765:G:T
Gene:: TXNL4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00002/1 (ALFA)
C=0./0 (Korea1K)
HGVS:: NC_000018.10:g.79973766G>A, NC_000018.10:g.79973766G>C, NC_000018.10:g.79973766G>T, NC_000018.9:g.77733766G>A, NC_000018.9:g.77733766G>C, NC_000018.9:g.77733766G>T, NG_042061.1:g.65170C>T, NG_042061.1:g.65170C>G, NG_042061.1:g.65170C>A, NM_006701.5:c.348C>T, NM_006701.5:c.348C>G, NM_006701.5:c.348C>A, NM_006701.4:c.348C>T, NM_006701.4:c.348C>G, NM_006701.4:c.348C>A, NM_006701.3:c.348C>T, NM_006701.3:c.348C>G, NM_006701.3:c.348C>A, NM_006701.2:c.348C>T, NM_006701.2:c.348C>G, NM_006701.2:c.348C>A, NM_001303471.3:c.231C>T, NM_001303471.3:c.231C>G, NM_001303471.3:c.231C>A, NM_001303471.2:c.231C>T, NM_001303471.2:c.231C>G, NM_001303471.2:c.231C>A, NM_001303471.1:c.231C>T, NM_001303471.1:c.231C>G, NM_001303471.1:c.231C>A, NR_131175.2:n.738C>T, NR_131175.2:n.738C>G, NR_131175.2:n.738C>A, NR_131175.1:n.767C>T, NR_131175.1:n.767C>G, NR_131175.1:n.767C>A, NR_131176.2:n.589C>T, NR_131176.2:n.589C>G, NR_131176.2:n.589C>A, NR_131176.1:n.618C>T, NR_131176.1:n.618C>G, NR_131176.1:n.618C>A, NM_001305557.2:c.324C>T, NM_001305557.2:c.324C>G, NM_001305557.2:c.324C>A, NM_001305557.1:c.324C>T, NM_001305557.1:c.324C>G, NM_001305557.1:c.324C>A, NR_131177.2:n.415C>T, NR_131177.2:n.415C>G, NR_131177.2:n.415C>A, NR_131177.1:n.444C>T, NR_131177.1:n.444C>G, NR_131177.1:n.444C>A, NM_001305563.2:c.135C>T, NM_001305563.2:c.135C>G, NM_001305563.2:c.135C>A, NM_001305563.1:c.135C>T, NM_001305563.1:c.135C>G, NM_001305563.1:c.135C>A, NM_001305564.2:c.135C>T, NM_001305564.2:c.135C>G, NM_001305564.2:c.135C>A, NM_001305564.1:c.135C>T, NM_001305564.1:c.135C>G, NM_001305564.1:c.135C>A, NP_006692.1:p.Ile116Met, NP_001290400.1:p.Ile77Met, NP_001292486.1:p.Ile108Met, NP_001292492.1:p.Ile45Met, NP_001292493.1:p.Ile45Met

Select item 14415027904.

rs1441502790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:79973718 (GRCh38)
18:77733718 (GRCh37)
Canonical SPDI:: NC_000018.10:79973717:G:A
Gene:: TXNL4A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0./0 (Korea1K)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.79973718G>A, NC_000018.9:g.77733718G>A, NG_042061.1:g.65218C>T, NM_006701.5:c.396C>T, NM_006701.4:c.396C>T, NM_006701.3:c.396C>T, NM_006701.2:c.396C>T, NM_001303471.3:c.279C>T, NM_001303471.2:c.279C>T, NM_001303471.1:c.279C>T, NR_131175.2:n.786C>T, NR_131175.1:n.815C>T, NR_131176.2:n.637C>T, NR_131176.1:n.666C>T, NM_001305557.2:c.372C>T, NM_001305557.1:c.372C>T, NR_131177.2:n.463C>T, NR_131177.1:n.492C>T, NM_001305563.2:c.183C>T, NM_001305563.1:c.183C>T, NM_001305564.2:c.183C>T, NM_001305564.1:c.183C>T

Select item 14365924515.

rs1436592451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:79973753 (GRCh38)
18:77733753 (GRCh37)
Canonical SPDI:: NC_000018.10:79973752:G:A
Gene:: TXNL4A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.79973753G>A, NC_000018.9:g.77733753G>A, NG_042061.1:g.65183C>T, NM_006701.5:c.361C>T, NM_006701.4:c.361C>T, NM_006701.3:c.361C>T, NM_006701.2:c.361C>T, NM_001303471.3:c.244C>T, NM_001303471.2:c.244C>T, NM_001303471.1:c.244C>T, NR_131175.2:n.751C>T, NR_131175.1:n.780C>T, NR_131176.2:n.602C>T, NR_131176.1:n.631C>T, NM_001305557.2:c.337C>T, NM_001305557.1:c.337C>T, NR_131177.2:n.428C>T, NR_131177.1:n.457C>T, NM_001305563.2:c.148C>T, NM_001305563.1:c.148C>T, NM_001305564.2:c.148C>T, NM_001305564.1:c.148C>T, NP_006692.1:p.Arg121Cys, NP_001290400.1:p.Arg82Cys, NP_001292486.1:p.Arg113Cys, NP_001292492.1:p.Arg50Cys, NP_001292493.1:p.Arg50Cys

Select item 14021443876.

rs1402144387 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 18:79973749 (GRCh38)
18:77733750 (GRCh37)
Canonical SPDI:: NC_000018.10:79973749:CGCG:CGCGCG
Gene:: TXNL4A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: CG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.79973750CG[3], NC_000018.9:g.77733750CG[3], NG_042061.1:g.65183CG[3], NM_006701.5:c.363_364dup, NM_006701.4:c.363_364dup, NM_006701.3:c.363_364dup, NM_006701.2:c.363_364dup, NM_001303471.3:c.246_247dup, NM_001303471.2:c.246_247dup, NM_001303471.1:c.246_247dup, NR_131175.2:n.751CG[3], NR_131175.1:n.780CG[3], NR_131176.2:n.602CG[3], NR_131176.1:n.631CG[3], NM_001305557.2:c.339_340dup, NM_001305557.1:c.339_340dup, NR_131177.2:n.428CG[3], NR_131177.1:n.457CG[3], NM_001305563.2:c.150_151dup, NM_001305563.1:c.150_151dup, NM_001305564.2:c.150_151dup, NM_001305564.1:c.150_151dup, NP_006692.1:p.Gly122fs, NP_001290400.1:p.Gly83fs, NP_001292486.1:p.Gly114fs, NP_001292492.1:p.Gly51fs, NP_001292493.1:p.Gly51fs

Select item 13753482017.

rs1375348201 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:79973809 (GRCh38)
18:77733809 (GRCh37)
Canonical SPDI:: NC_000018.10:79973808:A:G
Gene:: TXNL4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.79973809A>G, NC_000018.9:g.77733809A>G, NG_042061.1:g.65127T>C, NM_006701.5:c.305T>C, NM_006701.4:c.305T>C, NM_006701.3:c.305T>C, NM_006701.2:c.305T>C, NM_001303471.3:c.188T>C, NM_001303471.2:c.188T>C, NM_001303471.1:c.188T>C, NR_131175.2:n.695T>C, NR_131175.1:n.724T>C, NR_131176.2:n.546T>C, NR_131176.1:n.575T>C, NM_001305557.2:c.281T>C, NM_001305557.1:c.281T>C, NR_131177.2:n.372T>C, NR_131177.1:n.401T>C, NM_001305563.2:c.92T>C, NM_001305563.1:c.92T>C, NM_001305564.2:c.92T>C, NM_001305564.1:c.92T>C, NP_006692.1:p.Ile102Thr, NP_001290400.1:p.Ile63Thr, NP_001292486.1:p.Ile94Thr, NP_001292492.1:p.Ile31Thr, NP_001292493.1:p.Ile31Thr

Select item 13744894818.

rs1374489481 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 18:79973777 (GRCh38)
18:77733777 (GRCh37)
Canonical SPDI:: NC_000018.10:79973776:CC:C
Gene:: TXNL4A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.79973778del, NC_000018.9:g.77733778del, NG_042061.1:g.65159del, NM_006701.5:c.337del, NM_006701.4:c.337del, NM_006701.3:c.337del, NM_006701.2:c.337del, NM_001303471.3:c.220del, NM_001303471.2:c.220del, NM_001303471.1:c.220del, NR_131175.2:n.727del, NR_131175.1:n.756del, NR_131176.2:n.578del, NR_131176.1:n.607del, NM_001305557.2:c.313del, NM_001305557.1:c.313del, NR_131177.2:n.404del, NR_131177.1:n.433del, NM_001305563.2:c.124del, NM_001305563.1:c.124del, NM_001305564.2:c.124del, NM_001305564.1:c.124del, NP_006692.1:p.Val113fs, NP_001290400.1:p.Val74fs, NP_001292486.1:p.Val105fs, NP_001292492.1:p.Val42fs, NP_001292493.1:p.Val42fs

Select item 13696447979.

rs1369644797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:79973789 (GRCh38)
18:77733789 (GRCh37)
Canonical SPDI:: NC_000018.10:79973788:T:A
Gene:: TXNL4A (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.79973789T>A, NC_000018.9:g.77733789T>A, NG_042061.1:g.65147A>T, NM_006701.5:c.325A>T, NM_006701.4:c.325A>T, NM_006701.3:c.325A>T, NM_006701.2:c.325A>T, NM_001303471.3:c.208A>T, NM_001303471.2:c.208A>T, NM_001303471.1:c.208A>T, NR_131175.2:n.715A>T, NR_131175.1:n.744A>T, NR_131176.2:n.566A>T, NR_131176.1:n.595A>T, NM_001305557.2:c.301A>T, NM_001305557.1:c.301A>T, NR_131177.2:n.392A>T, NR_131177.1:n.421A>T, NM_001305563.2:c.112A>T, NM_001305563.1:c.112A>T, NM_001305564.2:c.112A>T, NM_001305564.1:c.112A>T, NP_006692.1:p.Lys109Ter, NP_001290400.1:p.Lys70Ter, NP_001292486.1:p.Lys101Ter, NP_001292492.1:p.Lys38Ter, NP_001292493.1:p.Lys38Ter

Select item 134887464810.

rs1348874648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:79973752 (GRCh38)
18:77733752 (GRCh37)
Canonical SPDI:: NC_000018.10:79973751:C:T
Gene:: TXNL4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.79973752C>T, NC_000018.9:g.77733752C>T, NG_042061.1:g.65184G>A, NM_006701.5:c.362G>A, NM_006701.4:c.362G>A, NM_006701.3:c.362G>A, NM_006701.2:c.362G>A, NM_001303471.3:c.245G>A, NM_001303471.2:c.245G>A, NM_001303471.1:c.245G>A, NR_131175.2:n.752G>A, NR_131175.1:n.781G>A, NR_131176.2:n.603G>A, NR_131176.1:n.632G>A, NM_001305557.2:c.338G>A, NM_001305557.1:c.338G>A, NR_131177.2:n.429G>A, NR_131177.1:n.458G>A, NM_001305563.2:c.149G>A, NM_001305563.1:c.149G>A, NM_001305564.2:c.149G>A, NM_001305564.1:c.149G>A, NP_006692.1:p.Arg121His, NP_001290400.1:p.Arg82His, NP_001292486.1:p.Arg113His, NP_001292492.1:p.Arg50His, NP_001292493.1:p.Arg50His

Select item 132128689611.

rs1321286896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:79973811 (GRCh38)
18:77733811 (GRCh37)
Canonical SPDI:: NC_000018.10:79973810:C:T
Gene:: TXNL4A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.79973811C>T, NC_000018.9:g.77733811C>T, NG_042061.1:g.65125G>A, NM_006701.5:c.303G>A, NM_006701.4:c.303G>A, NM_006701.3:c.303G>A, NM_006701.2:c.303G>A, NM_001303471.3:c.186G>A, NM_001303471.2:c.186G>A, NM_001303471.1:c.186G>A, NR_131175.2:n.693G>A, NR_131175.1:n.722G>A, NR_131176.2:n.544G>A, NR_131176.1:n.573G>A, NM_001305557.2:c.279G>A, NM_001305557.1:c.279G>A, NR_131177.2:n.370G>A, NR_131177.1:n.399G>A, NM_001305563.2:c.90G>A, NM_001305563.1:c.90G>A, NM_001305564.2:c.90G>A, NM_001305564.1:c.90G>A

Select item 130879789512.

rs1308797895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:79977637 (GRCh38)
18:77737637 (GRCh37)
Canonical SPDI:: NC_000018.10:79977636:T:C
Gene:: TXNL4A (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_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_000018.10:g.79977637T>C, NC_000018.9:g.77737637T>C, NG_042061.1:g.61299A>G, NM_006701.5:c.218A>G, NM_006701.4:c.218A>G, NM_006701.3:c.218A>G, NM_006701.2:c.218A>G, NM_001303471.3:c.101A>G, NM_001303471.2:c.101A>G, NM_001303471.1:c.101A>G, NR_131175.2:n.538A>G, NR_131175.1:n.567A>G, NR_131176.2:n.389A>G, NR_131176.1:n.418A>G, NM_001305557.2:c.194A>G, NM_001305557.1:c.194A>G, NM_001305563.2:c.5A>G, NM_001305563.1:c.5A>G, NM_001305564.2:c.5A>G, NM_001305564.1:c.5A>G, NP_006692.1:p.Tyr73Cys, NP_001290400.1:p.Tyr34Cys, NP_001292486.1:p.Tyr65Cys, NP_001292492.1:p.Tyr2Cys, NP_001292493.1:p.Tyr2Cys

Select item 130491785913.

rs1304917859 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCT [Show Flanks]
Chromosome:: 18:79973780 (GRCh38)
18:77733781 (GRCh37)
Canonical SPDI:: NC_000018.10:79973780:CTCCT:CTCCTCCT
Gene:: TXNL4A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTCCT=0./0 (ALFA)
CTC=0.000008/2 (TOPMED)
CTC=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.79973783_79973785dup, NC_000018.9:g.77733783_77733785dup, NG_042061.1:g.65153_65155dup, NM_006701.5:c.331_333dup, NM_006701.4:c.331_333dup, NM_006701.3:c.331_333dup, NM_006701.2:c.331_333dup, NM_001303471.3:c.214_216dup, NM_001303471.2:c.214_216dup, NM_001303471.1:c.214_216dup, NR_131175.2:n.721_723dup, NR_131175.1:n.750_752dup, NR_131176.2:n.572_574dup, NR_131176.1:n.601_603dup, NM_001305557.2:c.307_309dup, NM_001305557.1:c.307_309dup, NR_131177.2:n.398_400dup, NR_131177.1:n.427_429dup, NM_001305563.2:c.118_120dup, NM_001305563.1:c.118_120dup, NM_001305564.2:c.118_120dup, NM_001305564.1:c.118_120dup, NP_006692.1:p.Glu111dup, NP_001290400.1:p.Glu72dup, NP_001292486.1:p.Glu103dup, NP_001292492.1:p.Glu40dup, NP_001292493.1:p.Glu40dup

Select item 128799745114.

rs1287997451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:79973790 (GRCh38)
18:77733790 (GRCh37)
Canonical SPDI:: NC_000018.10:79973789:G:A
Gene:: TXNL4A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.79973790G>A, NC_000018.9:g.77733790G>A, NG_042061.1:g.65146C>T, NM_006701.5:c.324C>T, NM_006701.4:c.324C>T, NM_006701.3:c.324C>T, NM_006701.2:c.324C>T, NM_001303471.3:c.207C>T, NM_001303471.2:c.207C>T, NM_001303471.1:c.207C>T, NR_131175.2:n.714C>T, NR_131175.1:n.743C>T, NR_131176.2:n.565C>T, NR_131176.1:n.594C>T, NM_001305557.2:c.300C>T, NM_001305557.1:c.300C>T, NR_131177.2:n.391C>T, NR_131177.1:n.420C>T, NM_001305563.2:c.111C>T, NM_001305563.1:c.111C>T, NM_001305564.2:c.111C>T, NM_001305564.1:c.111C>T

Select item 125747762015.

rs1257477620 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCCCCGCGGTACACCGTCTCG>- [Show Flanks]
Chromosome:: 18:79973745 (GRCh38)
18:77733745 (GRCh37)
Canonical SPDI:: NC_000018.10:79973742:CGGGCCCCGCGGTACACCGTCTCG:CG
Gene:: TXNL4A (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.79973745_79973766del, NC_000018.9:g.77733745_77733766del, NG_042061.1:g.65172_65193del, NM_006701.5:c.350_371del, NM_006701.4:c.350_371del, NM_006701.3:c.350_371del, NM_006701.2:c.350_371del, NM_001303471.3:c.233_254del, NM_001303471.2:c.233_254del, NM_001303471.1:c.233_254del, NR_131175.2:n.740_761del, NR_131175.1:n.769_790del, NR_131176.2:n.591_612del, NR_131176.1:n.620_641del, NM_001305557.2:c.326_347del, NM_001305557.1:c.326_347del, NR_131177.2:n.417_438del, NR_131177.1:n.446_467del, NM_001305563.2:c.137_158del, NM_001305563.1:c.137_158del, NM_001305564.2:c.137_158del, NM_001305564.1:c.137_158del, NP_006692.1:p.Glu117fs, NP_001290400.1:p.Glu78fs, NP_001292486.1:p.Glu109fs, NP_001292492.1:p.Glu46fs, NP_001292493.1:p.Glu46fs

Select item 125482540116.

rs1254825401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:79973713 (GRCh38)
18:77733713 (GRCh37)
Canonical SPDI:: NC_000018.10:79973712:T:C
Gene:: TXNL4A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.79973713T>C, NC_000018.9:g.77733713T>C, NG_042061.1:g.65223A>G, NM_006701.5:c.401A>G, NM_006701.4:c.401A>G, NM_006701.3:c.401A>G, NM_006701.2:c.401A>G, NM_001303471.3:c.284A>G, NM_001303471.2:c.284A>G, NM_001303471.1:c.284A>G, NR_131175.2:n.791A>G, NR_131175.1:n.820A>G, NR_131176.2:n.642A>G, NR_131176.1:n.671A>G, NM_001305557.2:c.377A>G, NM_001305557.1:c.377A>G, NR_131177.2:n.468A>G, NR_131177.1:n.497A>G, NM_001305563.2:c.188A>G, NM_001305563.1:c.188A>G, NM_001305564.2:c.188A>G, NM_001305564.1:c.188A>G, NP_006692.1:p.Lys134Arg, NP_001290400.1:p.Lys95Arg, NP_001292486.1:p.Lys126Arg, NP_001292492.1:p.Lys63Arg, NP_001292493.1:p.Lys63Arg

Select item 116873960617.

rs1168739606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:79973810 (GRCh38)
18:77733810 (GRCh37)
Canonical SPDI:: NC_000018.10:79973809:T:C
Gene:: TXNL4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000018.10:g.79973810T>C, NC_000018.9:g.77733810T>C, NG_042061.1:g.65126A>G, NM_006701.5:c.304A>G, NM_006701.4:c.304A>G, NM_006701.3:c.304A>G, NM_006701.2:c.304A>G, NM_001303471.3:c.187A>G, NM_001303471.2:c.187A>G, NM_001303471.1:c.187A>G, NR_131175.2:n.694A>G, NR_131175.1:n.723A>G, NR_131176.2:n.545A>G, NR_131176.1:n.574A>G, NM_001305557.2:c.280A>G, NM_001305557.1:c.280A>G, NR_131177.2:n.371A>G, NR_131177.1:n.400A>G, NM_001305563.2:c.91A>G, NM_001305563.1:c.91A>G, NM_001305564.2:c.91A>G, NM_001305564.1:c.91A>G, NP_006692.1:p.Ile102Val, NP_001290400.1:p.Ile63Val, NP_001292486.1:p.Ile94Val, NP_001292492.1:p.Ile31Val, NP_001292493.1:p.Ile31Val

Select item 115839400718.

rs1158394007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:79973834 (GRCh38)
18:77733834 (GRCh37)
Canonical SPDI:: NC_000018.10:79973833:A:G
Gene:: TXNL4A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.79973834A>G, NC_000018.9:g.77733834A>G, NG_042061.1:g.65102T>C, NM_006701.5:c.280T>C, NM_006701.4:c.280T>C, NM_006701.3:c.280T>C, NM_006701.2:c.280T>C, NM_001303471.3:c.163T>C, NM_001303471.2:c.163T>C, NM_001303471.1:c.163T>C, NR_131175.2:n.670T>C, NR_131175.1:n.699T>C, NR_131176.2:n.521T>C, NR_131176.1:n.550T>C, NM_001305557.2:c.256T>C, NM_001305557.1:c.256T>C, NR_131177.2:n.347T>C, NR_131177.1:n.376T>C, NM_001305563.2:c.67T>C, NM_001305563.1:c.67T>C, NM_001305564.2:c.67T>C, NM_001305564.1:c.67T>C

Select item 115787100119.

rs1157871001 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 18:79973723 (GRCh38)
18:77733723 (GRCh37)
Canonical SPDI:: NC_000018.10:79973722:CC:C
Gene:: TXNL4A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.79973724del, NC_000018.9:g.77733724del, NG_042061.1:g.65213del, NM_006701.5:c.391del, NM_006701.4:c.391del, NM_006701.3:c.391del, NM_006701.2:c.391del, NM_001303471.3:c.274del, NM_001303471.2:c.274del, NM_001303471.1:c.274del, NR_131175.2:n.781del, NR_131175.1:n.810del, NR_131176.2:n.632del, NR_131176.1:n.661del, NM_001305557.2:c.367del, NM_001305557.1:c.367del, NR_131177.2:n.458del, NR_131177.1:n.487del, NM_001305563.2:c.178del, NM_001305563.1:c.178del, NM_001305564.2:c.178del, NM_001305564.1:c.178del, NP_006692.1:p.Val131fs, NP_001290400.1:p.Val92fs, NP_001292486.1:p.Val123fs, NP_001292492.1:p.Val60fs, NP_001292493.1:p.Val60fs

Select item 99191956020.

rs991919560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:79973745 (GRCh38)
18:77733745 (GRCh37)
Canonical SPDI:: NC_000018.10:79973744:G:A
Gene:: TXNL4A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000018.10:g.79973745G>A, NC_000018.9:g.77733745G>A, NG_042061.1:g.65191C>T, NM_006701.5:c.369C>T, NM_006701.4:c.369C>T, NM_006701.3:c.369C>T, NM_006701.2:c.369C>T, NM_001303471.3:c.252C>T, NM_001303471.2:c.252C>T, NM_001303471.1:c.252C>T, NR_131175.2:n.759C>T, NR_131175.1:n.788C>T, NR_131176.2:n.610C>T, NR_131176.1:n.639C>T, NM_001305557.2:c.345C>T, NM_001305557.1:c.345C>T, NR_131177.2:n.436C>T, NR_131177.1:n.465C>T, NM_001305563.2:c.156C>T, NM_001305563.1:c.156C>T, NM_001305564.2:c.156C>T, NM_001305564.1:c.156C>T

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Items: 1 to 20 of 38

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