SNP Links for Protein (Select 148539870) - SNP

Links from Protein

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Select item 14898481041.

rs1489848104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:47797118 (GRCh38)
12:48190901 (GRCh37)
Canonical SPDI:: NC_000012.12:47797117:C:A,NC_000012.12:47797117:C:T
Gene:: HDAC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47797118C>A, NC_000012.12:g.47797118C>T, NC_000012.11:g.48190901C>A, NC_000012.11:g.48190901C>T, NM_015401.5:c.602G>T, NM_015401.5:c.602G>A, NM_015401.4:c.602G>T, NM_015401.4:c.602G>A, NM_015401.3:c.602G>T, NM_015401.3:c.602G>A, NM_001098416.4:c.602G>T, NM_001098416.4:c.602G>A, NM_001098416.3:c.602G>T, NM_001098416.3:c.602G>A, NM_001098416.2:c.602G>T, NM_001098416.2:c.602G>A, NM_016596.3:c.485G>T, NM_016596.3:c.485G>A, XM_024449018.2:c.623G>T, XM_024449018.2:c.623G>A, XM_024449018.1:c.623G>T, XM_024449018.1:c.623G>A, XM_011538481.2:c.734G>T, XM_011538481.2:c.734G>A, XM_011538481.1:c.485G>T, XM_011538481.1:c.485G>A, NM_001308090.2:c.551G>T, NM_001308090.2:c.551G>A, NM_001308090.1:c.551G>T, NM_001308090.1:c.551G>A, NM_016596.2:c.485G>T, NM_016596.2:c.485G>A, XM_047428978.1:c.734G>T, XM_047428978.1:c.734G>A, XM_047428981.1:c.623G>T, XM_047428981.1:c.623G>A, NR_160436.1:n.720G>T, NR_160436.1:n.720G>A, NR_160435.1:n.669G>T, NR_160435.1:n.669G>A, NM_001368046.1:c.644G>T, NM_001368046.1:c.644G>A, NM_001098415.1:c.602G>T, NM_001098415.1:c.602G>A, XM_047428979.1:c.734G>T, XM_047428979.1:c.734G>A, XM_011538480.1:c.734G>T, XM_011538480.1:c.734G>A, XM_047428984.1:c.485G>T, XM_047428984.1:c.485G>A, XM_047428982.1:c.485G>T, XM_047428982.1:c.485G>A, XM_047428980.1:c.551G>T, XM_047428980.1:c.551G>A, XM_047428983.1:c.551G>T, XM_047428983.1:c.551G>A, NM_016596.1:c.485G>T, NM_016596.1:c.485G>A, XM_011538483.1:c.734G>T, XM_011538483.1:c.734G>A, NP_056216.2:p.Arg201Leu, NP_056216.2:p.Arg201His, NP_001091886.1:p.Arg201Leu, NP_001091886.1:p.Arg201His, XP_024304786.1:p.Arg208Leu, XP_024304786.1:p.Arg208His, XP_011536783.2:p.Arg245Leu, XP_011536783.2:p.Arg245His, NP_001295019.1:p.Arg184Leu, NP_001295019.1:p.Arg184His, XP_047284934.1:p.Arg245Leu, XP_047284934.1:p.Arg245His, XP_047284937.1:p.Arg208Leu, XP_047284937.1:p.Arg208His, NP_001354975.1:p.Arg215Leu, NP_001354975.1:p.Arg215His, XP_047284935.1:p.Arg245Leu, XP_047284935.1:p.Arg245His, XP_011536782.1:p.Arg245Leu, XP_011536782.1:p.Arg245His, XP_047284940.1:p.Arg162Leu, XP_047284940.1:p.Arg162His, XP_047284938.1:p.Arg162Leu, XP_047284938.1:p.Arg162His, XP_047284936.1:p.Arg184Leu, XP_047284936.1:p.Arg184His, XP_047284939.1:p.Arg184Leu, XP_047284939.1:p.Arg184His, XP_011536785.1:p.Arg245Leu, XP_011536785.1:p.Arg245His

Select item 14894123472.

rs1489412347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47797469 (GRCh38)
12:48191252 (GRCh37)
Canonical SPDI:: NC_000012.12:47797468:G:A
Gene:: HDAC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.47797469G>A, NC_000012.11:g.48191252G>A, NM_015401.5:c.492C>T, NM_015401.4:c.492C>T, NM_015401.3:c.492C>T, NM_001098416.4:c.492C>T, NM_001098416.3:c.492C>T, NM_001098416.2:c.492C>T, NM_016596.3:c.375C>T, XM_024449018.2:c.513C>T, XM_024449018.1:c.513C>T, XM_011538481.2:c.624C>T, XM_011538481.1:c.375C>T, NM_001308090.2:c.441C>T, NM_001308090.1:c.441C>T, NM_016596.2:c.375C>T, XM_047428978.1:c.624C>T, XM_047428981.1:c.513C>T, NR_160436.1:n.610C>T, NR_160435.1:n.559C>T, NM_001368046.1:c.534C>T, NM_001098415.1:c.492C>T, XM_047428979.1:c.624C>T, XM_011538480.1:c.624C>T, XM_047428984.1:c.375C>T, XM_047428982.1:c.375C>T, XM_047428980.1:c.441C>T, XM_047428983.1:c.441C>T, NM_016596.1:c.375C>T, XM_011538483.1:c.624C>T

Select item 14890063213.

rs1489006321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:47795333 (GRCh38)
12:48189116 (GRCh37)
Canonical SPDI:: NC_000012.12:47795332:T:C,NC_000012.12:47795332:T:G
Gene:: HDAC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.47795333T>C, NC_000012.12:g.47795333T>G, NC_000012.11:g.48189116T>C, NC_000012.11:g.48189116T>G, NM_015401.5:c.1135A>G, NM_015401.5:c.1135A>C, NM_015401.4:c.1135A>G, NM_015401.4:c.1135A>C, NM_015401.3:c.1135A>G, NM_015401.3:c.1135A>C, NM_001098416.4:c.1024A>G, NM_001098416.4:c.1024A>C, NM_001098416.3:c.1024A>G, NM_001098416.3:c.1024A>C, NM_001098416.2:c.1024A>G, NM_001098416.2:c.1024A>C, NM_016596.3:c.907A>G, NM_016596.3:c.907A>C, XM_024449018.2:c.1156A>G, XM_024449018.2:c.1156A>C, XM_024449018.1:c.1156A>G, XM_024449018.1:c.1156A>C, XM_011538481.2:c.1267A>G, XM_011538481.2:c.1267A>C, XM_011538481.1:c.1018A>G, XM_011538481.1:c.1018A>C, NM_001308090.2:c.1084A>G, NM_001308090.2:c.1084A>C, NM_001308090.1:c.1084A>G, NM_001308090.1:c.1084A>C, NM_016596.2:c.898A>G, NM_016596.2:c.898A>C, XM_047428978.1:c.1267A>G, XM_047428978.1:c.1267A>C, XM_047428981.1:c.1045A>G, XM_047428981.1:c.1045A>C, NR_160436.1:n.1253A>G, NR_160436.1:n.1253A>C, NR_160435.1:n.1202A>G, NR_160435.1:n.1202A>C, NM_001368046.1:c.1177A>G, NM_001368046.1:c.1177A>C, NM_001098415.1:c.1135A>G, NM_001098415.1:c.1135A>C, XM_047428979.1:c.1156A>G, XM_047428979.1:c.1156A>C, XM_011538480.1:c.1156A>G, XM_011538480.1:c.1156A>C, XM_047428984.1:c.1018A>G, XM_047428984.1:c.1018A>C, XM_047428982.1:c.1018A>G, XM_047428982.1:c.1018A>C, XM_047428980.1:c.1084A>G, XM_047428980.1:c.1084A>C, XM_047428983.1:c.973A>G, XM_047428983.1:c.973A>C, NM_016596.1:c.898A>G, NM_016596.1:c.898A>C, XM_011538483.1:c.1267A>G, XM_011538483.1:c.1267A>C, NP_056216.2:p.Thr379Ala, NP_056216.2:p.Thr379Pro, NP_001091886.1:p.Thr342Ala, NP_001091886.1:p.Thr342Pro, XP_024304786.1:p.Thr386Ala, XP_024304786.1:p.Thr386Pro, XP_011536783.2:p.Thr423Ala, XP_011536783.2:p.Thr423Pro, NP_001295019.1:p.Thr362Ala, NP_001295019.1:p.Thr362Pro, XP_047284934.1:p.Thr423Ala, XP_047284934.1:p.Thr423Pro, XP_047284937.1:p.Thr349Ala, XP_047284937.1:p.Thr349Pro, NP_001354975.1:p.Thr393Ala, NP_001354975.1:p.Thr393Pro, XP_047284935.1:p.Thr386Ala, XP_047284935.1:p.Thr386Pro, XP_011536782.1:p.Thr386Ala, XP_011536782.1:p.Thr386Pro, XP_047284940.1:p.Thr340Ala, XP_047284940.1:p.Thr340Pro, XP_047284938.1:p.Thr340Ala, XP_047284938.1:p.Thr340Pro, XP_047284936.1:p.Thr362Ala, XP_047284936.1:p.Thr362Pro, XP_047284939.1:p.Thr325Ala, XP_047284939.1:p.Thr325Pro, XP_011536785.1:p.Thr423Ala, XP_011536785.1:p.Thr423Pro

Select item 14888628154.

rs1488862815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:47789569 (GRCh38)
12:48183352 (GRCh37)
Canonical SPDI:: NC_000012.12:47789568:C:A
Gene:: HDAC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47789569C>A, NC_000012.11:g.48183352C>A, NM_015401.5:c.2101G>T, NM_015401.4:c.2101G>T, NM_015401.3:c.2101G>T, NM_001098416.4:c.1990G>T, NM_001098416.3:c.1990G>T, NM_001098416.2:c.1990G>T, NM_016596.3:c.1873G>T, XM_024449018.2:c.2122G>T, XM_024449018.1:c.2122G>T, XM_011538481.2:c.2233G>T, XM_011538481.1:c.1984G>T, NM_001308090.2:c.2050G>T, NM_001308090.1:c.2050G>T, NM_016596.2:c.1864G>T, XM_047428978.1:c.2233G>T, XM_047428981.1:c.2011G>T, NR_160436.1:n.2884G>T, NR_160435.1:n.2833G>T, NM_001368046.1:c.2143G>T, NM_001098415.1:c.2101G>T, XM_047428979.1:c.2122G>T, XM_011538480.1:c.2122G>T, XM_047428984.1:c.1984G>T, XM_047428982.1:c.1984G>T, XM_047428980.1:c.2050G>T, XM_047428983.1:c.1939G>T, NM_016596.1:c.1864G>T, NP_056216.2:p.Ala701Ser, NP_001091886.1:p.Ala664Ser, XP_024304786.1:p.Ala708Ser, XP_011536783.2:p.Ala745Ser, NP_001295019.1:p.Ala684Ser, XP_047284934.1:p.Ala745Ser, XP_047284937.1:p.Ala671Ser, NP_001354975.1:p.Ala715Ser, XP_047284935.1:p.Ala708Ser, XP_011536782.1:p.Ala708Ser, XP_047284940.1:p.Ala662Ser, XP_047284938.1:p.Ala662Ser, XP_047284936.1:p.Ala684Ser, XP_047284939.1:p.Ala647Ser

Select item 14877794565.

rs1487779456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:47787783 (GRCh38)
12:48181566 (GRCh37)
Canonical SPDI:: NC_000012.12:47787782:G:C
Gene:: HDAC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47787783G>C, NC_000012.11:g.48181566G>C, NM_015401.5:c.2382C>G, NM_015401.4:c.2382C>G, NM_015401.3:c.2382C>G, NM_001098416.4:c.2271C>G, NM_001098416.3:c.2271C>G, NM_001098416.2:c.2271C>G, NM_016596.3:c.2154C>G, XM_024449018.2:c.2403C>G, XM_024449018.1:c.2403C>G, XM_011538481.2:c.2514C>G, XM_011538481.1:c.2265C>G, NM_001308090.2:c.2331C>G, NM_001308090.1:c.2331C>G, NM_016596.2:c.2145C>G, XM_047428978.1:c.2514C>G, XM_047428981.1:c.2292C>G, NR_160436.1:n.3165C>G, NR_160435.1:n.3114C>G, NM_001368046.1:c.2424C>G, NM_001098415.1:c.2382C>G, XM_047428979.1:c.2403C>G, XM_011538480.1:c.2403C>G, XM_047428984.1:c.2265C>G, XM_047428982.1:c.2265C>G, XM_047428980.1:c.2331C>G, XM_047428983.1:c.2220C>G, NM_016596.1:c.2154C>G, NP_056216.2:p.Phe794Leu, NP_001091886.1:p.Phe757Leu, XP_024304786.1:p.Phe801Leu, XP_011536783.2:p.Phe838Leu, NP_001295019.1:p.Phe777Leu, XP_047284934.1:p.Phe838Leu, XP_047284937.1:p.Phe764Leu, NP_001354975.1:p.Phe808Leu, XP_047284935.1:p.Phe801Leu, XP_011536782.1:p.Phe801Leu, XP_047284940.1:p.Phe755Leu, XP_047284938.1:p.Phe755Leu, XP_047284936.1:p.Phe777Leu, XP_047284939.1:p.Phe740Leu

Select item 14869456196.

rs1486945619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47785800 (GRCh38)
12:48179583 (GRCh37)
Canonical SPDI:: NC_000012.12:47785799:G:A
Gene:: HDAC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47785800G>A, NC_000012.11:g.48179583G>A, NM_015401.5:c.2658C>T, NM_015401.4:c.2658C>T, NM_015401.3:c.2658C>T, NM_001098416.4:c.2547C>T, NM_001098416.3:c.2547C>T, NM_001098416.2:c.2547C>T, NM_016596.3:c.2430C>T, XM_024449018.2:c.2679C>T, XM_024449018.1:c.2679C>T, XM_011538481.2:c.2790C>T, XM_011538481.1:c.2541C>T, NM_001308090.2:c.2607C>T, NM_001308090.1:c.2607C>T, NM_016596.2:c.2421C>T, XM_047428978.1:c.2790C>T, XM_047428981.1:c.2568C>T, NR_160436.1:n.3441C>T, NR_160435.1:n.3390C>T, NM_001368046.1:c.2700C>T, NM_001098415.1:c.2658C>T, XM_047428979.1:c.2679C>T, XM_011538480.1:c.2679C>T, XM_047428984.1:c.2541C>T, XM_047428982.1:c.2541C>T, XM_047428980.1:c.2607C>T, XM_047428983.1:c.2496C>T, NM_016596.1:c.2430C>T

Select item 14836769977.

rs1483676997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47788053 (GRCh38)
12:48181836 (GRCh37)
Canonical SPDI:: NC_000012.12:47788052:C:T
Gene:: HDAC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.47788053C>T, NC_000012.11:g.48181836C>T, NM_015401.5:c.2347G>A, NM_015401.4:c.2347G>A, NM_015401.3:c.2347G>A, NM_001098416.4:c.2236G>A, NM_001098416.3:c.2236G>A, NM_001098416.2:c.2236G>A, NM_016596.3:c.2119G>A, XM_024449018.2:c.2368G>A, XM_024449018.1:c.2368G>A, XM_011538481.2:c.2479G>A, XM_011538481.1:c.2230G>A, NM_001308090.2:c.2296G>A, NM_001308090.1:c.2296G>A, NM_016596.2:c.2110G>A, XM_047428978.1:c.2479G>A, XM_047428981.1:c.2257G>A, NR_160436.1:n.3130G>A, NR_160435.1:n.3079G>A, NM_001368046.1:c.2389G>A, NM_001098415.1:c.2347G>A, XM_047428979.1:c.2368G>A, XM_011538480.1:c.2368G>A, XM_047428984.1:c.2230G>A, XM_047428982.1:c.2230G>A, XM_047428980.1:c.2296G>A, XM_047428983.1:c.2185G>A, NM_016596.1:c.2119G>A, NP_056216.2:p.Val783Met, NP_001091886.1:p.Val746Met, XP_024304786.1:p.Val790Met, XP_011536783.2:p.Val827Met, NP_001295019.1:p.Val766Met, XP_047284934.1:p.Val827Met, XP_047284937.1:p.Val753Met, NP_001354975.1:p.Val797Met, XP_047284935.1:p.Val790Met, XP_011536782.1:p.Val790Met, XP_047284940.1:p.Val744Met, XP_047284938.1:p.Val744Met, XP_047284936.1:p.Val766Met, XP_047284939.1:p.Val729Met

Select item 14825240138.

rs1482524013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47798630 (GRCh38)
12:48192413 (GRCh37)
Canonical SPDI:: NC_000012.12:47798629:G:A
Gene:: HDAC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.47798630G>A, NC_000012.11:g.48192413G>A, NM_015401.5:c.281C>T, NM_015401.4:c.281C>T, NM_015401.3:c.281C>T, NM_001098416.4:c.281C>T, NM_001098416.3:c.281C>T, NM_001098416.2:c.281C>T, NM_016596.3:c.164C>T, XM_024449018.2:c.302C>T, XM_024449018.1:c.302C>T, XM_011538481.2:c.413C>T, XM_011538481.1:c.164C>T, NM_001308090.2:c.230C>T, NM_001308090.1:c.230C>T, NM_016596.2:c.164C>T, XM_047428978.1:c.413C>T, XM_047428981.1:c.302C>T, NR_160436.1:n.399C>T, NR_160435.1:n.348C>T, NM_001368046.1:c.281C>T, NM_001098415.1:c.281C>T, XM_047428979.1:c.413C>T, XM_011538480.1:c.413C>T, XM_047428984.1:c.164C>T, XM_047428982.1:c.164C>T, XM_047428980.1:c.230C>T, XM_047428983.1:c.230C>T, NM_016596.1:c.164C>T, XM_011538483.1:c.413C>T, NP_056216.2:p.Pro94Leu, NP_001091886.1:p.Pro94Leu, XP_024304786.1:p.Pro101Leu, XP_011536783.2:p.Pro138Leu, NP_001295019.1:p.Pro77Leu, XP_047284934.1:p.Pro138Leu, XP_047284937.1:p.Pro101Leu, NP_001354975.1:p.Pro94Leu, XP_047284935.1:p.Pro138Leu, XP_011536782.1:p.Pro138Leu, XP_047284940.1:p.Pro55Leu, XP_047284938.1:p.Pro55Leu, XP_047284936.1:p.Pro77Leu, XP_047284939.1:p.Pro77Leu, XP_011536785.1:p.Pro138Leu

Select item 14823621329.

rs1482362132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:47795599 (GRCh38)
12:48189382 (GRCh37)
Canonical SPDI:: NC_000012.12:47795598:G:A,NC_000012.12:47795598:G:T
Gene:: HDAC7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47795599G>A, NC_000012.12:g.47795599G>T, NC_000012.11:g.48189382G>A, NC_000012.11:g.48189382G>T, NM_015401.5:c.1075C>T, NM_015401.5:c.1075C>A, NM_015401.4:c.1075C>T, NM_015401.4:c.1075C>A, NM_015401.3:c.1075C>T, NM_015401.3:c.1075C>A, NM_001098416.4:c.964C>T, NM_001098416.4:c.964C>A, NM_001098416.3:c.964C>T, NM_001098416.3:c.964C>A, NM_001098416.2:c.964C>T, NM_001098416.2:c.964C>A, NM_016596.3:c.847C>T, NM_016596.3:c.847C>A, XM_024449018.2:c.1096C>T, XM_024449018.2:c.1096C>A, XM_024449018.1:c.1096C>T, XM_024449018.1:c.1096C>A, XM_011538481.2:c.1207C>T, XM_011538481.2:c.1207C>A, XM_011538481.1:c.958C>T, XM_011538481.1:c.958C>A, NM_001308090.2:c.1024C>T, NM_001308090.2:c.1024C>A, NM_001308090.1:c.1024C>T, NM_001308090.1:c.1024C>A, NM_016596.2:c.838C>T, NM_016596.2:c.838C>A, XM_047428978.1:c.1207C>T, XM_047428978.1:c.1207C>A, XM_047428981.1:c.985C>T, XM_047428981.1:c.985C>A, NR_160436.1:n.1193C>T, NR_160436.1:n.1193C>A, NR_160435.1:n.1142C>T, NR_160435.1:n.1142C>A, NM_001368046.1:c.1117C>T, NM_001368046.1:c.1117C>A, NM_001098415.1:c.1075C>T, NM_001098415.1:c.1075C>A, XM_047428979.1:c.1096C>T, XM_047428979.1:c.1096C>A, XM_011538480.1:c.1096C>T, XM_011538480.1:c.1096C>A, XM_047428984.1:c.958C>T, XM_047428984.1:c.958C>A, XM_047428982.1:c.958C>T, XM_047428982.1:c.958C>A, XM_047428980.1:c.1024C>T, XM_047428980.1:c.1024C>A, XM_047428983.1:c.913C>T, XM_047428983.1:c.913C>A, NM_016596.1:c.838C>T, NM_016596.1:c.838C>A, XM_011538483.1:c.1207C>T, XM_011538483.1:c.1207C>A, NP_056216.2:p.Pro359Ser, NP_056216.2:p.Pro359Thr, NP_001091886.1:p.Pro322Ser, NP_001091886.1:p.Pro322Thr, XP_024304786.1:p.Pro366Ser, XP_024304786.1:p.Pro366Thr, XP_011536783.2:p.Pro403Ser, XP_011536783.2:p.Pro403Thr, NP_001295019.1:p.Pro342Ser, NP_001295019.1:p.Pro342Thr, XP_047284934.1:p.Pro403Ser, XP_047284934.1:p.Pro403Thr, XP_047284937.1:p.Pro329Ser, XP_047284937.1:p.Pro329Thr, NP_001354975.1:p.Pro373Ser, NP_001354975.1:p.Pro373Thr, XP_047284935.1:p.Pro366Ser, XP_047284935.1:p.Pro366Thr, XP_011536782.1:p.Pro366Ser, XP_011536782.1:p.Pro366Thr, XP_047284940.1:p.Pro320Ser, XP_047284940.1:p.Pro320Thr, XP_047284938.1:p.Pro320Ser, XP_047284938.1:p.Pro320Thr, XP_047284936.1:p.Pro342Ser, XP_047284936.1:p.Pro342Thr, XP_047284939.1:p.Pro305Ser, XP_047284939.1:p.Pro305Thr, XP_011536785.1:p.Pro403Ser, XP_011536785.1:p.Pro403Thr

Select item 148232794010.

rs1482327940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47793539 (GRCh38)
12:48187322 (GRCh37)
Canonical SPDI:: NC_000012.12:47793538:C:T
Gene:: HDAC7 (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=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.47793539C>T, NC_000012.11:g.48187322C>T, NM_015401.5:c.1508G>A, NM_015401.4:c.1508G>A, NM_015401.3:c.1508G>A, NM_001098416.4:c.1397G>A, NM_001098416.3:c.1397G>A, NM_001098416.2:c.1397G>A, NM_016596.3:c.1280G>A, XM_024449018.2:c.1529G>A, XM_024449018.1:c.1529G>A, XM_011538481.2:c.1640G>A, XM_011538481.1:c.1391G>A, NM_001308090.2:c.1457G>A, NM_001308090.1:c.1457G>A, NM_016596.2:c.1271G>A, XM_047428978.1:c.1640G>A, XM_047428981.1:c.1418G>A, NR_160436.1:n.1626G>A, NR_160435.1:n.1575G>A, NM_001368046.1:c.1550G>A, NM_001098415.1:c.1508G>A, XM_047428979.1:c.1529G>A, XM_011538480.1:c.1529G>A, XM_047428984.1:c.1391G>A, XM_047428982.1:c.1391G>A, XM_047428980.1:c.1457G>A, XM_047428983.1:c.1346G>A, NM_016596.1:c.1271G>A, XM_011538483.1:c.1640G>A, NP_056216.2:p.Ser503Asn, NP_001091886.1:p.Ser466Asn, XP_024304786.1:p.Ser510Asn, XP_011536783.2:p.Ser547Asn, NP_001295019.1:p.Ser486Asn, XP_047284934.1:p.Ser547Asn, XP_047284937.1:p.Ser473Asn, NP_001354975.1:p.Ser517Asn, XP_047284935.1:p.Ser510Asn, XP_011536782.1:p.Ser510Asn, XP_047284940.1:p.Ser464Asn, XP_047284938.1:p.Ser464Asn, XP_047284936.1:p.Ser486Asn, XP_047284939.1:p.Ser449Asn, XP_011536785.1:p.Ser547Asn

Select item 148180485711.

rs1481804857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47793448 (GRCh38)
12:48187231 (GRCh37)
Canonical SPDI:: NC_000012.12:47793447:C:T
Gene:: HDAC7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.47793448C>T, NC_000012.11:g.48187231C>T, NM_015401.5:c.1599G>A, NM_015401.4:c.1599G>A, NM_015401.3:c.1599G>A, NM_001098416.4:c.1488G>A, NM_001098416.3:c.1488G>A, NM_001098416.2:c.1488G>A, NM_016596.3:c.1371G>A, XM_024449018.2:c.1620G>A, XM_024449018.1:c.1620G>A, XM_011538481.2:c.1731G>A, XM_011538481.1:c.1482G>A, NM_001308090.2:c.1548G>A, NM_001308090.1:c.1548G>A, NM_016596.2:c.1362G>A, XM_047428978.1:c.1731G>A, XM_047428981.1:c.1509G>A, NR_160436.1:n.1717G>A, NR_160435.1:n.1666G>A, NM_001368046.1:c.1641G>A, NM_001098415.1:c.1599G>A, XM_047428979.1:c.1620G>A, XM_011538480.1:c.1620G>A, XM_047428984.1:c.1482G>A, XM_047428982.1:c.1482G>A, XM_047428980.1:c.1548G>A, XM_047428983.1:c.1437G>A, NM_016596.1:c.1362G>A, XM_011538483.1:c.1731G>A

Select item 148162900112.

rs1481629001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:47785449 (GRCh38)
12:48179232 (GRCh37)
Canonical SPDI:: NC_000012.12:47785448:C:G
Gene:: HDAC7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47785449C>G, NC_000012.11:g.48179232C>G, NM_015401.5:c.2729G>C, NM_015401.4:c.2729G>C, NM_015401.3:c.2729G>C, NM_001098416.4:c.2618G>C, NM_001098416.3:c.2618G>C, NM_001098416.2:c.2618G>C, NM_016596.3:c.2501G>C, XM_024449018.2:c.2750G>C, XM_024449018.1:c.2750G>C, XM_011538481.2:c.2861G>C, XM_011538481.1:c.2612G>C, NM_001308090.2:c.2678G>C, NM_001308090.1:c.2678G>C, NM_016596.2:c.2492G>C, XM_047428978.1:c.2861G>C, XM_047428981.1:c.2639G>C, NR_160436.1:n.3512G>C, NR_160435.1:n.3461G>C, NM_001368046.1:c.2771G>C, NM_001098415.1:c.2729G>C, XM_047428979.1:c.2750G>C, XM_011538480.1:c.2750G>C, XM_047428984.1:c.2612G>C, XM_047428982.1:c.2612G>C, XM_047428980.1:c.2678G>C, XM_047428983.1:c.2567G>C, NM_016596.1:c.2501G>C, NP_056216.2:p.Gly910Ala, NP_001091886.1:p.Gly873Ala, XP_024304786.1:p.Gly917Ala, XP_011536783.2:p.Gly954Ala, NP_001295019.1:p.Gly893Ala, XP_047284934.1:p.Gly954Ala, XP_047284937.1:p.Gly880Ala, NP_001354975.1:p.Gly924Ala, XP_047284935.1:p.Gly917Ala, XP_011536782.1:p.Gly917Ala, XP_047284940.1:p.Gly871Ala, XP_047284938.1:p.Gly871Ala, XP_047284936.1:p.Gly893Ala, XP_047284939.1:p.Gly856Ala

Select item 148108732713.

rs1481087327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:47795704 (GRCh38)
12:48189487 (GRCh37)
Canonical SPDI:: NC_000012.12:47795703:G:T
Gene:: HDAC7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.47795704G>T, NC_000012.11:g.48189487G>T, NM_015401.5:c.970C>A, NM_015401.4:c.970C>A, NM_015401.3:c.970C>A, NM_001098416.4:c.859C>A, NM_001098416.3:c.859C>A, NM_001098416.2:c.859C>A, NM_016596.3:c.742C>A, XM_024449018.2:c.991C>A, XM_024449018.1:c.991C>A, XM_011538481.2:c.1102C>A, XM_011538481.1:c.853C>A, NM_001308090.2:c.919C>A, NM_001308090.1:c.919C>A, NM_016596.2:c.733C>A, XM_047428978.1:c.1102C>A, XM_047428981.1:c.880C>A, NR_160436.1:n.1088C>A, NR_160435.1:n.1037C>A, NM_001368046.1:c.1012C>A, NM_001098415.1:c.970C>A, XM_047428979.1:c.991C>A, XM_011538480.1:c.991C>A, XM_047428984.1:c.853C>A, XM_047428982.1:c.853C>A, XM_047428980.1:c.919C>A, XM_047428983.1:c.808C>A, NM_016596.1:c.733C>A, XM_011538483.1:c.1102C>A, NP_056216.2:p.His324Asn, NP_001091886.1:p.His287Asn, XP_024304786.1:p.His331Asn, XP_011536783.2:p.His368Asn, NP_001295019.1:p.His307Asn, XP_047284934.1:p.His368Asn, XP_047284937.1:p.His294Asn, NP_001354975.1:p.His338Asn, XP_047284935.1:p.His331Asn, XP_011536782.1:p.His331Asn, XP_047284940.1:p.His285Asn, XP_047284938.1:p.His285Asn, XP_047284936.1:p.His307Asn, XP_047284939.1:p.His270Asn, XP_011536785.1:p.His368Asn

Select item 147883830314.

rs1478838303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47784205 (GRCh38)
12:48177988 (GRCh37)
Canonical SPDI:: NC_000012.12:47784204:C:T
Gene:: HDAC7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.47784205C>T, NC_000012.11:g.48177988C>T, NM_015401.5:c.2804G>A, NM_015401.4:c.2804G>A, NM_015401.3:c.2804G>A, NM_001098416.4:c.2693G>A, NM_001098416.3:c.2693G>A, NM_001098416.2:c.2693G>A, NM_016596.3:c.2576G>A, XM_024449018.2:c.2825G>A, XM_024449018.1:c.2825G>A, XM_011538481.2:c.2936G>A, XM_011538481.1:c.2687G>A, NM_001308090.2:c.2753G>A, NM_001308090.1:c.2753G>A, NM_016596.2:c.2567G>A, XM_047428978.1:c.2936G>A, XM_047428981.1:c.2714G>A, NR_160436.1:n.3587G>A, NR_160435.1:n.3536G>A, NM_001368046.1:c.2846G>A, NM_001098415.1:c.2804G>A, XM_047428979.1:c.2825G>A, XM_011538480.1:c.2825G>A, XM_047428984.1:c.2687G>A, XM_047428982.1:c.2687G>A, XM_047428980.1:c.2753G>A, XM_047428983.1:c.2642G>A, NM_016596.1:c.*9G>A, NP_056216.2:p.Gly935Asp, NP_001091886.1:p.Gly898Asp, XP_024304786.1:p.Gly942Asp, XP_011536783.2:p.Gly979Asp, NP_001295019.1:p.Gly918Asp, XP_047284934.1:p.Gly979Asp, XP_047284937.1:p.Gly905Asp, NP_001354975.1:p.Gly949Asp, XP_047284935.1:p.Gly942Asp, XP_011536782.1:p.Gly942Asp, XP_047284940.1:p.Gly896Asp, XP_047284938.1:p.Gly896Asp, XP_047284936.1:p.Gly918Asp, XP_047284939.1:p.Gly881Asp

Select item 147730834415.

rs1477308344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:47798620 (GRCh38)
12:48192403 (GRCh37)
Canonical SPDI:: NC_000012.12:47798619:C:G
Gene:: HDAC7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_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_000012.12:g.47798620C>G, NC_000012.11:g.48192403C>G, NM_015401.5:c.291G>C, NM_015401.4:c.291G>C, NM_015401.3:c.291G>C, NM_001098416.4:c.291G>C, NM_001098416.3:c.291G>C, NM_001098416.2:c.291G>C, NM_016596.3:c.174G>C, XM_024449018.2:c.312G>C, XM_024449018.1:c.312G>C, XM_011538481.2:c.423G>C, XM_011538481.1:c.174G>C, NM_001308090.2:c.240G>C, NM_001308090.1:c.240G>C, NM_016596.2:c.174G>C, XM_047428978.1:c.423G>C, XM_047428981.1:c.312G>C, NR_160436.1:n.409G>C, NR_160435.1:n.358G>C, NM_001368046.1:c.291G>C, NM_001098415.1:c.291G>C, XM_047428979.1:c.423G>C, XM_011538480.1:c.423G>C, XM_047428984.1:c.174G>C, XM_047428982.1:c.174G>C, XM_047428980.1:c.240G>C, XM_047428983.1:c.240G>C, NM_016596.1:c.174G>C, XM_011538483.1:c.423G>C, NP_056216.2:p.Gln97His, NP_001091886.1:p.Gln97His, XP_024304786.1:p.Gln104His, XP_011536783.2:p.Gln141His, NP_001295019.1:p.Gln80His, XP_047284934.1:p.Gln141His, XP_047284937.1:p.Gln104His, NP_001354975.1:p.Gln97His, XP_047284935.1:p.Gln141His, XP_011536782.1:p.Gln141His, XP_047284940.1:p.Gln58His, XP_047284938.1:p.Gln58His, XP_047284936.1:p.Gln80His, XP_047284939.1:p.Gln80His, XP_011536785.1:p.Gln141His

Select item 147701783216.

rs1477017832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47795747 (GRCh38)
12:48189530 (GRCh37)
Canonical SPDI:: NC_000012.12:47795746:G:A
Gene:: HDAC7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47795747G>A, NC_000012.11:g.48189530G>A, NM_015401.5:c.927C>T, NM_015401.4:c.927C>T, NM_015401.3:c.927C>T, NM_001098416.4:c.816C>T, NM_001098416.3:c.816C>T, NM_001098416.2:c.816C>T, NM_016596.3:c.699C>T, XM_024449018.2:c.948C>T, XM_024449018.1:c.948C>T, XM_011538481.2:c.1059C>T, XM_011538481.1:c.810C>T, NM_001308090.2:c.876C>T, NM_001308090.1:c.876C>T, NM_016596.2:c.690C>T, XM_047428978.1:c.1059C>T, XM_047428981.1:c.837C>T, NR_160436.1:n.1045C>T, NR_160435.1:n.994C>T, NM_001368046.1:c.969C>T, NM_001098415.1:c.927C>T, XM_047428979.1:c.948C>T, XM_011538480.1:c.948C>T, XM_047428984.1:c.810C>T, XM_047428982.1:c.810C>T, XM_047428980.1:c.876C>T, XM_047428983.1:c.765C>T, NM_016596.1:c.690C>T, XM_011538483.1:c.1059C>T

Select item 147681006017.

rs1476810060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47797135 (GRCh38)
12:48190918 (GRCh37)
Canonical SPDI:: NC_000012.12:47797134:C:T
Gene:: HDAC7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00006/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.47797135C>T, NC_000012.11:g.48190918C>T, NM_015401.5:c.585G>A, NM_015401.4:c.585G>A, NM_015401.3:c.585G>A, NM_001098416.4:c.585G>A, NM_001098416.3:c.585G>A, NM_001098416.2:c.585G>A, NM_016596.3:c.468G>A, XM_024449018.2:c.606G>A, XM_024449018.1:c.606G>A, XM_011538481.2:c.717G>A, XM_011538481.1:c.468G>A, NM_001308090.2:c.534G>A, NM_001308090.1:c.534G>A, NM_016596.2:c.468G>A, XM_047428978.1:c.717G>A, XM_047428981.1:c.606G>A, NR_160436.1:n.703G>A, NR_160435.1:n.652G>A, NM_001368046.1:c.627G>A, NM_001098415.1:c.585G>A, XM_047428979.1:c.717G>A, XM_011538480.1:c.717G>A, XM_047428984.1:c.468G>A, XM_047428982.1:c.468G>A, XM_047428980.1:c.534G>A, XM_047428983.1:c.534G>A, NM_016596.1:c.468G>A, XM_011538483.1:c.717G>A

Select item 147661101518.

rs1476611015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:47791619 (GRCh38)
12:48185402 (GRCh37)
Canonical SPDI:: NC_000012.12:47791618:T:C
Gene:: HDAC7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.47791619T>C, NC_000012.11:g.48185402T>C, NM_015401.5:c.1900A>G, NM_015401.4:c.1900A>G, NM_015401.3:c.1900A>G, NM_001098416.4:c.1789A>G, NM_001098416.3:c.1789A>G, NM_001098416.2:c.1789A>G, NM_016596.3:c.1672A>G, XM_024449018.2:c.1921A>G, XM_024449018.1:c.1921A>G, XM_011538481.2:c.2032A>G, XM_011538481.1:c.1783A>G, NM_001308090.2:c.1849A>G, NM_001308090.1:c.1849A>G, NM_016596.2:c.1663A>G, XM_047428978.1:c.2032A>G, XM_047428981.1:c.1810A>G, NR_160436.1:n.2683A>G, NR_160435.1:n.2632A>G, NM_001368046.1:c.1942A>G, NM_001098415.1:c.1900A>G, XM_047428979.1:c.1921A>G, XM_011538480.1:c.1921A>G, XM_047428984.1:c.1783A>G, XM_047428982.1:c.1783A>G, XM_047428980.1:c.1849A>G, XM_047428983.1:c.1738A>G, NM_016596.1:c.1663A>G, NP_056216.2:p.Ser634Gly, NP_001091886.1:p.Ser597Gly, XP_024304786.1:p.Ser641Gly, XP_011536783.2:p.Ser678Gly, NP_001295019.1:p.Ser617Gly, XP_047284934.1:p.Ser678Gly, XP_047284937.1:p.Ser604Gly, NP_001354975.1:p.Ser648Gly, XP_047284935.1:p.Ser641Gly, XP_011536782.1:p.Ser641Gly, XP_047284940.1:p.Ser595Gly, XP_047284938.1:p.Ser595Gly, XP_047284936.1:p.Ser617Gly, XP_047284939.1:p.Ser580Gly

Select item 147551089719.

rs1475510897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:47791998 (GRCh38)
12:48185781 (GRCh37)
Canonical SPDI:: NC_000012.12:47791997:A:C
Gene:: HDAC7 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47791998A>C, NC_000012.11:g.48185781A>C, NM_015401.5:c.1685T>G, NM_015401.4:c.1685T>G, NM_015401.3:c.1685T>G, NM_001098416.4:c.1574T>G, NM_001098416.3:c.1574T>G, NM_001098416.2:c.1574T>G, NM_016596.3:c.1457T>G, XM_024449018.2:c.1706T>G, XM_024449018.1:c.1706T>G, XM_011538481.2:c.1817T>G, XM_011538481.1:c.1568T>G, NM_001308090.2:c.1634T>G, NM_001308090.1:c.1634T>G, NM_016596.2:c.1448T>G, XM_047428978.1:c.1817T>G, XM_047428981.1:c.1595T>G, NR_160436.1:n.2468T>G, NR_160435.1:n.2417T>G, NM_001368046.1:c.1727T>G, NM_001098415.1:c.1685T>G, XM_047428979.1:c.1706T>G, XM_011538480.1:c.1706T>G, XM_047428984.1:c.1568T>G, XM_047428982.1:c.1568T>G, XM_047428980.1:c.1634T>G, XM_047428983.1:c.1523T>G, NM_016596.1:c.1448T>G, NP_056216.2:p.Ile562Ser, NP_001091886.1:p.Ile525Ser, XP_024304786.1:p.Ile569Ser, XP_011536783.2:p.Ile606Ser, NP_001295019.1:p.Ile545Ser, XP_047284934.1:p.Ile606Ser, XP_047284937.1:p.Ile532Ser, NP_001354975.1:p.Ile576Ser, XP_047284935.1:p.Ile569Ser, XP_011536782.1:p.Ile569Ser, XP_047284940.1:p.Ile523Ser, XP_047284938.1:p.Ile523Ser, XP_047284936.1:p.Ile545Ser, XP_047284939.1:p.Ile508Ser

Select item 147523843320.

rs1475238433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:47793463 (GRCh38)
12:48187246 (GRCh37)
Canonical SPDI:: NC_000012.12:47793462:G:A,NC_000012.12:47793462:G:C
Gene:: HDAC7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.47793463G>A, NC_000012.12:g.47793463G>C, NC_000012.11:g.48187246G>A, NC_000012.11:g.48187246G>C, NM_015401.5:c.1584C>T, NM_015401.5:c.1584C>G, NM_015401.4:c.1584C>T, NM_015401.4:c.1584C>G, NM_015401.3:c.1584C>T, NM_015401.3:c.1584C>G, NM_001098416.4:c.1473C>T, NM_001098416.4:c.1473C>G, NM_001098416.3:c.1473C>T, NM_001098416.3:c.1473C>G, NM_001098416.2:c.1473C>T, NM_001098416.2:c.1473C>G, NM_016596.3:c.1356C>T, NM_016596.3:c.1356C>G, XM_024449018.2:c.1605C>T, XM_024449018.2:c.1605C>G, XM_024449018.1:c.1605C>T, XM_024449018.1:c.1605C>G, XM_011538481.2:c.1716C>T, XM_011538481.2:c.1716C>G, XM_011538481.1:c.1467C>T, XM_011538481.1:c.1467C>G, NM_001308090.2:c.1533C>T, NM_001308090.2:c.1533C>G, NM_001308090.1:c.1533C>T, NM_001308090.1:c.1533C>G, NM_016596.2:c.1347C>T, NM_016596.2:c.1347C>G, XM_047428978.1:c.1716C>T, XM_047428978.1:c.1716C>G, XM_047428981.1:c.1494C>T, XM_047428981.1:c.1494C>G, NR_160436.1:n.1702C>T, NR_160436.1:n.1702C>G, NR_160435.1:n.1651C>T, NR_160435.1:n.1651C>G, NM_001368046.1:c.1626C>T, NM_001368046.1:c.1626C>G, NM_001098415.1:c.1584C>T, NM_001098415.1:c.1584C>G, XM_047428979.1:c.1605C>T, XM_047428979.1:c.1605C>G, XM_011538480.1:c.1605C>T, XM_011538480.1:c.1605C>G, XM_047428984.1:c.1467C>T, XM_047428984.1:c.1467C>G, XM_047428982.1:c.1467C>T, XM_047428982.1:c.1467C>G, XM_047428980.1:c.1533C>T, XM_047428980.1:c.1533C>G, XM_047428983.1:c.1422C>T, XM_047428983.1:c.1422C>G, NM_016596.1:c.1347C>T, NM_016596.1:c.1347C>G, XM_011538483.1:c.1716C>T, XM_011538483.1:c.1716C>G

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