SNP Links for Gene (Select 221078) - SNP

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Select item 14915779191.

rs1491577919 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGT [Show Flanks]
Chromosome:: 10:18600962 (GRCh38)
10:18889892 (GRCh37)
Canonical SPDI:: NC_000010.11:18600962:T:TGTGT
Gene:: NSUN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TGTG=0.00001/1 (GnomAD)
HGVS:: NC_000010.11:g.18600963_18600964insGTGT, NC_000010.10:g.18889892_18889893insGTGT

Select item 14915125032.

rs1491512503 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:18596136 (GRCh38)
10:18885066 (GRCh37)
Canonical SPDI:: NC_000010.11:18596136:A:AA
Gene:: NSUN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.18596137dup, NC_000010.10:g.18885066dup

Select item 14914706113.

rs1491470611 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 10:18568400 (GRCh38)
10:18857329 (GRCh37)
Canonical SPDI:: NC_000010.11:18568397:TCTC:TC
Gene:: NSUN6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCTC=0./0 (ALFA)
HGVS:: NC_000010.11:g.18568398TC[1], NC_000010.10:g.18857327TC[1]

Select item 14914676894.

rs1491467689 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGT [Show Flanks]
Chromosome:: 10:18541237 (GRCh38)
10:18830167 (GRCh37)
Canonical SPDI:: NC_000010.11:18541237:AAGT:AAGTAAGT
Gene:: CACNB2 (Varview), LOC124902386 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGTAAGT=0./0 (ALFA)
AAGT=0.000014/2 (GnomAD)
AAGT=0.000034/9 (TOPMED)
HGVS:: NC_000010.11:g.18541238_18541241dup, NC_000010.10:g.18830167_18830170dup, NG_016195.1:g.405562_405565dup, NM_201571.4:c.*1514_*1517dup, NM_201571.3:c.*1514_*1517dup, NM_201572.4:c.*1514_*1517dup, NM_201572.3:c.*1514_*1517dup, NM_000724.4:c.*1514_*1517dup, NM_000724.3:c.*1514_*1517dup, NM_201596.3:c.*1514_*1517dup, NM_201596.2:c.*1514_*1517dup, NM_201570.3:c.*1514_*1517dup, NM_201570.2:c.*1514_*1517dup, NM_201597.3:c.*1514_*1517dup, NM_201597.2:c.*1514_*1517dup, NM_201593.3:c.*1514_*1517dup, NM_201593.2:c.*1514_*1517dup, NM_201590.3:c.*1514_*1517dup, NM_201590.2:c.*1514_*1517dup, NM_001167945.2:c.*1514_*1517dup, NM_001167945.1:c.*1514_*1517dup, NM_001330060.2:c.*1514_*1517dup, NM_001330060.1:c.*1514_*1517dup, NM_001410882.1:c.*1514_*1517dup, XM_005252588.5:c.*1514_*1517dup, XM_006717502.4:c.*1514_*1517dup, XM_006717502.3:c.*1514_*1517dup, XM_005252591.4:c.*1514_*1517dup, XM_005252591.3:c.*1514_*1517dup, XM_011519659.3:c.*1514_*1517dup, XM_011519659.2:c.*1514_*1517dup

Select item 14914590625.

rs1491459062 has merged into rs1043863652 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 10:18646547 (GRCh38)
10:18935476 (GRCh37)
Canonical SPDI:: NC_000010.11:18646546:AAAAAAAAAA:AAAAAAAAA,NC_000010.11:18646546:AAAAAAAAAA:AAAAAAAAAAA
Gene:: NSUN6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.18646556del, NC_000010.11:g.18646556dup, NC_000010.10:g.18935485del, NC_000010.10:g.18935485dup

Select item 14914510616.

rs1491451061 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 10:18551244 (GRCh38)
10:18840173 (GRCh37)
Canonical SPDI:: NC_000010.11:18551243:TT:
Gene:: NSUN6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000010.11:g.18551244_18551245del, NC_000010.10:g.18840173_18840174del

Select item 14914484847.

rs1491448484 has merged into rs772814324 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 10:18593888 (GRCh38)
10:18882817 (GRCh37)
Canonical SPDI:: NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:18593875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: NSUN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000010.11:g.18593888_18593890del, NC_000010.11:g.18593889_18593890del, NC_000010.11:g.18593890del, NC_000010.11:g.18593890dup, NC_000010.11:g.18593889_18593890dup, NC_000010.11:g.18593888_18593890dup, NC_000010.10:g.18882817_18882819del, NC_000010.10:g.18882818_18882819del, NC_000010.10:g.18882819del, NC_000010.10:g.18882819dup, NC_000010.10:g.18882818_18882819dup, NC_000010.10:g.18882817_18882819dup

Select item 14914354288.

rs1491435428 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:18593875 (GRCh38)
10:18882804 (GRCh37)
Canonical SPDI:: NC_000010.11:18593874:TA:
Gene:: NSUN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00091/86 (GnomAD)
HGVS:: NC_000010.11:g.18593875_18593876del, NC_000010.10:g.18882804_18882805del

Select item 14914148069.

rs1491414806 has merged into rs60917790 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:18542891 (GRCh38)
10:18831820 (GRCh37)
Canonical SPDI:: NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CACNB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.1985/994 (1000Genomes)
HGVS:: NC_000010.11:g.18542891_18542900del, NC_000010.11:g.18542893_18542900del, NC_000010.11:g.18542894_18542900del, NC_000010.11:g.18542896_18542900del, NC_000010.11:g.18542897_18542900del, NC_000010.11:g.18542898_18542900del, NC_000010.11:g.18542899_18542900del, NC_000010.11:g.18542900del, NC_000010.11:g.18542900dup, NC_000010.11:g.18542899_18542900dup, NC_000010.11:g.18542898_18542900dup, NC_000010.11:g.18542896_18542900dup, NC_000010.10:g.18831820_18831829del, NC_000010.10:g.18831822_18831829del, NC_000010.10:g.18831823_18831829del, NC_000010.10:g.18831825_18831829del, NC_000010.10:g.18831826_18831829del, NC_000010.10:g.18831827_18831829del, NC_000010.10:g.18831828_18831829del, NC_000010.10:g.18831829del, NC_000010.10:g.18831829dup, NC_000010.10:g.18831828_18831829dup, NC_000010.10:g.18831827_18831829dup, NC_000010.10:g.18831825_18831829dup, NG_016195.1:g.407215_407224del, NG_016195.1:g.407217_407224del, NG_016195.1:g.407218_407224del, NG_016195.1:g.407220_407224del, NG_016195.1:g.407221_407224del, NG_016195.1:g.407222_407224del, NG_016195.1:g.407223_407224del, NG_016195.1:g.407224del, NG_016195.1:g.407224dup, NG_016195.1:g.407223_407224dup, NG_016195.1:g.407222_407224dup, NG_016195.1:g.407220_407224dup, NM_201571.4:c.*3167_*3176del, NM_201571.4:c.*3169_*3176del, NM_201571.4:c.*3170_*3176del, NM_201571.4:c.*3172_*3176del, NM_201571.4:c.*3173_*3176del, NM_201571.4:c.*3174_*3176del, NM_201571.4:c.*3175_*3176del, NM_201571.4:c.*3176del, NM_201571.4:c.*3176dup, NM_201571.4:c.*3175_*3176dup, NM_201571.4:c.*3174_*3176dup, NM_201571.4:c.*3172_*3176dup, NM_201572.4:c.*3167_*3176del, NM_201572.4:c.*3169_*3176del, NM_201572.4:c.*3170_*3176del, NM_201572.4:c.*3172_*3176del, NM_201572.4:c.*3173_*3176del, NM_201572.4:c.*3174_*3176del, NM_201572.4:c.*3175_*3176del, NM_201572.4:c.*3176del, NM_201572.4:c.*3176dup, NM_201572.4:c.*3175_*3176dup, NM_201572.4:c.*3174_*3176dup, NM_201572.4:c.*3172_*3176dup, NM_000724.4:c.*3167_*3176del, NM_000724.4:c.*3169_*3176del, NM_000724.4:c.*3170_*3176del, NM_000724.4:c.*3172_*3176del, NM_000724.4:c.*3173_*3176del, NM_000724.4:c.*3174_*3176del, NM_000724.4:c.*3175_*3176del, NM_000724.4:c.*3176del, NM_000724.4:c.*3176dup, NM_000724.4:c.*3175_*3176dup, NM_000724.4:c.*3174_*3176dup, NM_000724.4:c.*3172_*3176dup, NM_201596.3:c.*3167_*3176del, NM_201596.3:c.*3169_*3176del, NM_201596.3:c.*3170_*3176del, NM_201596.3:c.*3172_*3176del, NM_201596.3:c.*3173_*3176del, NM_201596.3:c.*3174_*3176del, NM_201596.3:c.*3175_*3176del, NM_201596.3:c.*3176del, NM_201596.3:c.*3176dup, NM_201596.3:c.*3175_*3176dup, NM_201596.3:c.*3174_*3176dup, NM_201596.3:c.*3172_*3176dup, NM_201570.3:c.*3167_*3176del, NM_201570.3:c.*3169_*3176del, NM_201570.3:c.*3170_*3176del, NM_201570.3:c.*3172_*3176del, NM_201570.3:c.*3173_*3176del, NM_201570.3:c.*3174_*3176del, NM_201570.3:c.*3175_*3176del, NM_201570.3:c.*3176del, NM_201570.3:c.*3176dup, NM_201570.3:c.*3175_*3176dup, NM_201570.3:c.*3174_*3176dup, NM_201570.3:c.*3172_*3176dup, NM_201597.3:c.*3167_*3176del, NM_201597.3:c.*3169_*3176del, NM_201597.3:c.*3170_*3176del, NM_201597.3:c.*3172_*3176del, NM_201597.3:c.*3173_*3176del, NM_201597.3:c.*3174_*3176del, NM_201597.3:c.*3175_*3176del, NM_201597.3:c.*3176del, NM_201597.3:c.*3176dup, NM_201597.3:c.*3175_*3176dup, NM_201597.3:c.*3174_*3176dup, NM_201597.3:c.*3172_*3176dup, NM_201593.3:c.*3167_*3176del, NM_201593.3:c.*3169_*3176del, NM_201593.3:c.*3170_*3176del, NM_201593.3:c.*3172_*3176del, NM_201593.3:c.*3173_*3176del, NM_201593.3:c.*3174_*3176del, NM_201593.3:c.*3175_*3176del, NM_201593.3:c.*3176del, NM_201593.3:c.*3176dup, NM_201593.3:c.*3175_*3176dup, NM_201593.3:c.*3174_*3176dup, NM_201593.3:c.*3172_*3176dup, NM_201590.3:c.*3167_*3176del, NM_201590.3:c.*3169_*3176del, NM_201590.3:c.*3170_*3176del, NM_201590.3:c.*3172_*3176del, NM_201590.3:c.*3173_*3176del, NM_201590.3:c.*3174_*3176del, NM_201590.3:c.*3175_*3176del, NM_201590.3:c.*3176del, NM_201590.3:c.*3176dup, NM_201590.3:c.*3175_*3176dup, NM_201590.3:c.*3174_*3176dup, NM_201590.3:c.*3172_*3176dup, NM_001167945.2:c.*3167_*3176del, NM_001167945.2:c.*3169_*3176del, NM_001167945.2:c.*3170_*3176del, NM_001167945.2:c.*3172_*3176del, NM_001167945.2:c.*3173_*3176del, NM_001167945.2:c.*3174_*3176del, NM_001167945.2:c.*3175_*3176del, NM_001167945.2:c.*3176del, NM_001167945.2:c.*3176dup, NM_001167945.2:c.*3175_*3176dup, NM_001167945.2:c.*3174_*3176dup, NM_001167945.2:c.*3172_*3176dup, NM_001330060.2:c.*3167_*3176del, NM_001330060.2:c.*3169_*3176del, NM_001330060.2:c.*3170_*3176del, NM_001330060.2:c.*3172_*3176del, NM_001330060.2:c.*3173_*3176del, NM_001330060.2:c.*3174_*3176del, NM_001330060.2:c.*3175_*3176del, NM_001330060.2:c.*3176del, NM_001330060.2:c.*3176dup, NM_001330060.2:c.*3175_*3176dup, NM_001330060.2:c.*3174_*3176dup, NM_001330060.2:c.*3172_*3176dup, NM_001410882.1:c.*3167_*3176del, NM_001410882.1:c.*3169_*3176del, NM_001410882.1:c.*3170_*3176del, NM_001410882.1:c.*3172_*3176del, NM_001410882.1:c.*3173_*3176del, NM_001410882.1:c.*3174_*3176del, NM_001410882.1:c.*3175_*3176del, NM_001410882.1:c.*3176del, NM_001410882.1:c.*3176dup, NM_001410882.1:c.*3175_*3176dup, NM_001410882.1:c.*3174_*3176dup, NM_001410882.1:c.*3172_*3176dup, XM_005252588.5:c.*3167_*3176del, XM_005252588.5:c.*3169_*3176del, XM_005252588.5:c.*3170_*3176del, XM_005252588.5:c.*3172_*3176del, XM_005252588.5:c.*3173_*3176del, XM_005252588.5:c.*3174_*3176del, XM_005252588.5:c.*3175_*3176del, XM_005252588.5:c.*3176del, XM_005252588.5:c.*3176dup, XM_005252588.5:c.*3175_*3176dup, XM_005252588.5:c.*3174_*3176dup, XM_005252588.5:c.*3172_*3176dup, XM_006717502.4:c.*3167_*3176del, XM_006717502.4:c.*3169_*3176del, XM_006717502.4:c.*3170_*3176del, XM_006717502.4:c.*3172_*3176del, XM_006717502.4:c.*3173_*3176del, XM_006717502.4:c.*3174_*3176del, XM_006717502.4:c.*3175_*3176del, XM_006717502.4:c.*3176del, XM_006717502.4:c.*3176dup, XM_006717502.4:c.*3175_*3176dup, XM_006717502.4:c.*3174_*3176dup, XM_006717502.4:c.*3172_*3176dup, XM_006717502.3:c.*3167_*3176del, XM_006717502.3:c.*3169_*3176del, XM_006717502.3:c.*3170_*3176del, XM_006717502.3:c.*3172_*3176del, XM_006717502.3:c.*3173_*3176del, XM_006717502.3:c.*3174_*3176del, XM_006717502.3:c.*3175_*3176del, XM_006717502.3:c.*3176del, XM_006717502.3:c.*3176dup, XM_006717502.3:c.*3175_*3176dup, XM_006717502.3:c.*3174_*3176dup, XM_006717502.3:c.*3172_*3176dup, XM_005252591.4:c.*3167_*3176del, XM_005252591.4:c.*3169_*3176del, XM_005252591.4:c.*3170_*3176del, XM_005252591.4:c.*3172_*3176del, XM_005252591.4:c.*3173_*3176del, XM_005252591.4:c.*3174_*3176del, XM_005252591.4:c.*3175_*3176del, XM_005252591.4:c.*3176del, XM_005252591.4:c.*3176dup, XM_005252591.4:c.*3175_*3176dup, XM_005252591.4:c.*3174_*3176dup, XM_005252591.4:c.*3172_*3176dup, XM_005252591.3:c.*3167_*3176del, XM_005252591.3:c.*3169_*3176del, XM_005252591.3:c.*3170_*3176del, XM_005252591.3:c.*3172_*3176del, XM_005252591.3:c.*3173_*3176del, XM_005252591.3:c.*3174_*3176del, XM_005252591.3:c.*3175_*3176del, XM_005252591.3:c.*3176del, XM_005252591.3:c.*3176dup, XM_005252591.3:c.*3175_*3176dup, XM_005252591.3:c.*3174_*3176dup, XM_005252591.3:c.*3172_*3176dup, XM_011519659.3:c.*3167_*3176del, XM_011519659.3:c.*3169_*3176del, XM_011519659.3:c.*3170_*3176del, XM_011519659.3:c.*3172_*3176del, XM_011519659.3:c.*3173_*3176del, XM_011519659.3:c.*3174_*3176del, XM_011519659.3:c.*3175_*3176del, XM_011519659.3:c.*3176del, XM_011519659.3:c.*3176dup, XM_011519659.3:c.*3175_*3176dup, XM_011519659.3:c.*3174_*3176dup, XM_011519659.3:c.*3172_*3176dup, XM_011519659.2:c.*3167_*3176del, XM_011519659.2:c.*3169_*3176del, XM_011519659.2:c.*3170_*3176del, XM_011519659.2:c.*3172_*3176del, XM_011519659.2:c.*3173_*3176del, XM_011519659.2:c.*3174_*3176del, XM_011519659.2:c.*3175_*3176del, XM_011519659.2:c.*3176del, XM_011519659.2:c.*3176dup, XM_011519659.2:c.*3175_*3176dup, XM_011519659.2:c.*3174_*3176dup, XM_011519659.2:c.*3172_*3176dup

Select item 149140981810.

rs1491409818 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:18646546 (GRCh38)
10:18935475 (GRCh37)
Canonical SPDI:: NC_000010.11:18646545:GA:
Gene:: NSUN6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000066/2 (GnomAD)
HGVS:: NC_000010.11:g.18646546_18646547del, NC_000010.10:g.18935475_18935476del

Select item 149140557111.

rs1491405571 has merged into rs200450047 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTTTTT [Show Flanks]
Chromosome:: 10:18620103 (GRCh38)
10:18909032 (GRCh37)
Canonical SPDI:: NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: NSUN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.1957/980 (1000Genomes)
TT=0.25/10 (GENOME_DK)
TT=0.2667/160 (NorthernSweden)
HGVS:: NC_000010.11:g.18620103_18620105del, NC_000010.11:g.18620104_18620105del, NC_000010.11:g.18620105del, NC_000010.11:g.18620105dup, NC_000010.11:g.18620101_18620105dup, NC_000010.10:g.18909032_18909034del, NC_000010.10:g.18909033_18909034del, NC_000010.10:g.18909034del, NC_000010.10:g.18909034dup, NC_000010.10:g.18909030_18909034dup

Select item 149134754512.

rs1491347545 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 10:18538980 (GRCh38)
10:18827909 (GRCh37)
Canonical SPDI:: NC_000010.11:18538979:GC:
Gene:: CACNB2 (Varview), LOC124902386 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000061/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.18538980_18538981del, NC_000010.10:g.18827909_18827910del, NG_016195.1:g.403304_403305del

Select item 149134304313.

rs1491343043 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGAGAAC [Show Flanks]
Chromosome:: 10:18562731 (GRCh38)
10:18851661 (GRCh37)
Canonical SPDI:: NC_000010.11:18562731::AGAGAAC
Gene:: NSUN6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGAAC=0.00017/2 (ALFA)
HGVS:: NC_000010.11:g.18562731_18562732insAGAGAAC, NC_000010.10:g.18851660_18851661insAGAGAAC

Select item 149132553314.

rs1491325533 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:18541238 (GRCh38)
10:18830167 (GRCh37)
Canonical SPDI:: NC_000010.11:18541236:AAA:A
Gene:: CACNB2 (Varview), LOC124902386 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.18541238_18541239del, NC_000010.10:g.18830167_18830168del, NG_016195.1:g.405562_405563del, NM_201571.4:c.*1514_*1515del, NM_201571.3:c.*1514_*1515del, NM_201572.4:c.*1514_*1515del, NM_201572.3:c.*1514_*1515del, NM_000724.4:c.*1514_*1515del, NM_000724.3:c.*1514_*1515del, NM_201596.3:c.*1514_*1515del, NM_201596.2:c.*1514_*1515del, NM_201570.3:c.*1514_*1515del, NM_201570.2:c.*1514_*1515del, NM_201597.3:c.*1514_*1515del, NM_201597.2:c.*1514_*1515del, NM_201593.3:c.*1514_*1515del, NM_201593.2:c.*1514_*1515del, NM_201590.3:c.*1514_*1515del, NM_201590.2:c.*1514_*1515del, NM_001167945.2:c.*1514_*1515del, NM_001167945.1:c.*1514_*1515del, NM_001330060.2:c.*1514_*1515del, NM_001330060.1:c.*1514_*1515del, NM_001410882.1:c.*1514_*1515del, XM_005252588.5:c.*1514_*1515del, XM_006717502.4:c.*1514_*1515del, XM_006717502.3:c.*1514_*1515del, XM_005252591.4:c.*1514_*1515del, XM_005252591.3:c.*1514_*1515del, XM_011519659.3:c.*1514_*1515del, XM_011519659.2:c.*1514_*1515del

Select item 149128983815.

rs1491289838 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:18545728 (GRCh38)
10:18834657 (GRCh37)
Canonical SPDI:: NC_000010.11:18545727:AT:
Gene:: NSUN6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000044/6 (GnomAD)
-=0.000468/3 (1000Genomes)
-=0.001522/25 (TOMMO)
-=0.002188/4 (Korea1K)
HGVS:: NC_000010.11:g.18545728_18545729del, NC_000010.10:g.18834657_18834658del, NM_182543.5:c.*204_*205del, NM_182543.4:c.*204_*205del, NM_182543.3:c.*204_*205del, NM_182543.2:c.*204_*205del, XM_017015907.3:c.*204_*205del, XM_017015907.2:c.*204_*205del, XM_017015907.1:c.*204_*205del, XM_011519387.3:c.*204_*205del, XM_011519387.2:c.*204_*205del, XM_011519387.1:c.*204_*205del, XM_011519386.3:c.*204_*205del, XM_011519386.2:c.*204_*205del, XM_011519386.1:c.*204_*205del, XM_017015912.3:c.*204_*205del, XM_017015912.2:c.*204_*205del, XM_017015912.1:c.*204_*205del, XM_011519384.2:c.*204_*205del, XM_011519384.1:c.*204_*205del, XM_011519383.2:c.*204_*205del, XM_011519383.1:c.*204_*205del, NM_001351115.2:c.*204_*205del, NM_001351115.1:c.*204_*205del, NM_001351117.2:c.*204_*205del, NM_001351117.1:c.*204_*205del, XM_011519385.2:c.*204_*205del, XM_011519385.1:c.*204_*205del, XM_024447884.2:c.*204_*205del, XM_024447884.1:c.*204_*205del, NM_001351118.2:c.*204_*205del, NM_001351118.1:c.*204_*205del, NM_001351116.2:c.*204_*205del, NM_001351116.1:c.*204_*205del, XM_047424779.1:c.*204_*205del, XM_047424778.1:c.*204_*205del, XM_047424777.1:c.*204_*205del, XM_047424781.1:c.*204_*205del, XM_047424783.1:c.*204_*205del

Select item 149126547616.

rs1491265476 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:18562731 (GRCh38)
10:18851660 (GRCh37)
Canonical SPDI:: NC_000010.11:18562730:TG:
Gene:: NSUN6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000058/8 (GnomAD)
HGVS:: NC_000010.11:g.18562731_18562732del, NC_000010.10:g.18851660_18851661del

Select item 149125966217.

rs1491259662 has merged into rs71402191 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:18645166 (GRCh38)
10:18934095 (GRCh37)
Canonical SPDI:: NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:18645157:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NSUN6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.1831/917 (1000Genomes)
HGVS:: NC_000010.11:g.18645166_18645178del, NC_000010.11:g.18645169_18645178del, NC_000010.11:g.18645170_18645178del, NC_000010.11:g.18645171_18645178del, NC_000010.11:g.18645172_18645178del, NC_000010.11:g.18645173_18645178del, NC_000010.11:g.18645174_18645178del, NC_000010.11:g.18645175_18645178del, NC_000010.11:g.18645176_18645178del, NC_000010.11:g.18645177_18645178del, NC_000010.11:g.18645178del, NC_000010.11:g.18645178dup, NC_000010.11:g.18645177_18645178dup, NC_000010.11:g.18645176_18645178dup, NC_000010.11:g.18645175_18645178dup, NC_000010.11:g.18645174_18645178dup, NC_000010.11:g.18645173_18645178dup, NC_000010.11:g.18645172_18645178dup, NC_000010.11:g.18645171_18645178dup, NC_000010.11:g.18645161_18645178dup, NC_000010.10:g.18934095_18934107del, NC_000010.10:g.18934098_18934107del, NC_000010.10:g.18934099_18934107del, NC_000010.10:g.18934100_18934107del, NC_000010.10:g.18934101_18934107del, NC_000010.10:g.18934102_18934107del, NC_000010.10:g.18934103_18934107del, NC_000010.10:g.18934104_18934107del, NC_000010.10:g.18934105_18934107del, NC_000010.10:g.18934106_18934107del, NC_000010.10:g.18934107del, NC_000010.10:g.18934107dup, NC_000010.10:g.18934106_18934107dup, NC_000010.10:g.18934105_18934107dup, NC_000010.10:g.18934104_18934107dup, NC_000010.10:g.18934103_18934107dup, NC_000010.10:g.18934102_18934107dup, NC_000010.10:g.18934101_18934107dup, NC_000010.10:g.18934100_18934107dup, NC_000010.10:g.18934090_18934107dup

Select item 149123942618.

rs1491239426 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 10:18536244 (GRCh38)
10:18825174 (GRCh37)
Canonical SPDI:: NC_000010.11:18536244:TTT:TTTCTTT
Gene:: CACNB2 (Varview), LOC124902386 (Varview), LOC124902387 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0.00025/3 (ALFA)
TTTC=0.00003/1 (GnomAD)
TTTC=0.00021/4 (TOMMO)
TTTC=0.01094/349 (GnomAD_exomes)
HGVS:: NC_000010.11:g.18536247_18536248insCTTT, NC_000010.10:g.18825176_18825177insCTTT, NG_016195.1:g.400571_400572insCTTT

Select item 149122042819.

rs1491220428 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 10:18614351 (GRCh38)
10:18903281 (GRCh37)
Canonical SPDI:: NC_000010.11:18614351::A,NC_000010.11:18614351::AA
Gene:: NSUN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00004/1 (TOMMO)
A=0.00615/20 (GnomAD)
HGVS:: NC_000010.11:g.18614351_18614352insA, NC_000010.11:g.18614351_18614352insAA, NC_000010.10:g.18903280_18903281insA, NC_000010.10:g.18903280_18903281insAA

Select item 149120494420.

rs1491204944 has merged into rs904187820 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:18536252 (GRCh38)
10:18825181 (GRCh37)
Canonical SPDI:: NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:18536243:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CACNB2 (Varview), LOC124902386 (Varview), LOC124902387 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00433/103 (TOMMO)
HGVS:: NC_000010.11:g.18536252_18536273del, NC_000010.11:g.18536255_18536273del, NC_000010.11:g.18536256_18536273del, NC_000010.11:g.18536257_18536273del, NC_000010.11:g.18536258_18536273del, NC_000010.11:g.18536259_18536273del, NC_000010.11:g.18536260_18536273del, NC_000010.11:g.18536261_18536273del, NC_000010.11:g.18536262_18536273del, NC_000010.11:g.18536263_18536273del, NC_000010.11:g.18536264_18536273del, NC_000010.11:g.18536265_18536273del, NC_000010.11:g.18536266_18536273del, NC_000010.11:g.18536267_18536273del, NC_000010.11:g.18536268_18536273del, NC_000010.11:g.18536269_18536273del, NC_000010.11:g.18536270_18536273del, NC_000010.11:g.18536271_18536273del, NC_000010.11:g.18536272_18536273del, NC_000010.11:g.18536273del, NC_000010.11:g.18536273dup, NC_000010.11:g.18536272_18536273dup, NC_000010.11:g.18536271_18536273dup, NC_000010.11:g.18536270_18536273dup, NC_000010.11:g.18536269_18536273dup, NC_000010.11:g.18536268_18536273dup, NC_000010.11:g.18536267_18536273dup, NC_000010.11:g.18536266_18536273dup, NC_000010.11:g.18536265_18536273dup, NC_000010.11:g.18536264_18536273dup, NC_000010.11:g.18536263_18536273dup, NC_000010.11:g.18536253_18536273dup, NC_000010.11:g.18536249_18536273dup, NC_000010.10:g.18825181_18825202del, NC_000010.10:g.18825184_18825202del, NC_000010.10:g.18825185_18825202del, NC_000010.10:g.18825186_18825202del, NC_000010.10:g.18825187_18825202del, NC_000010.10:g.18825188_18825202del, NC_000010.10:g.18825189_18825202del, NC_000010.10:g.18825190_18825202del, NC_000010.10:g.18825191_18825202del, NC_000010.10:g.18825192_18825202del, NC_000010.10:g.18825193_18825202del, NC_000010.10:g.18825194_18825202del, NC_000010.10:g.18825195_18825202del, NC_000010.10:g.18825196_18825202del, NC_000010.10:g.18825197_18825202del, NC_000010.10:g.18825198_18825202del, NC_000010.10:g.18825199_18825202del, NC_000010.10:g.18825200_18825202del, NC_000010.10:g.18825201_18825202del, NC_000010.10:g.18825202del, NC_000010.10:g.18825202dup, NC_000010.10:g.18825201_18825202dup, NC_000010.10:g.18825200_18825202dup, NC_000010.10:g.18825199_18825202dup, NC_000010.10:g.18825198_18825202dup, NC_000010.10:g.18825197_18825202dup, NC_000010.10:g.18825196_18825202dup, NC_000010.10:g.18825195_18825202dup, NC_000010.10:g.18825194_18825202dup, NC_000010.10:g.18825193_18825202dup, NC_000010.10:g.18825192_18825202dup, NC_000010.10:g.18825182_18825202dup, NC_000010.10:g.18825178_18825202dup, NG_016195.1:g.400576_400597del, NG_016195.1:g.400579_400597del, NG_016195.1:g.400580_400597del, NG_016195.1:g.400581_400597del, NG_016195.1:g.400582_400597del, NG_016195.1:g.400583_400597del, NG_016195.1:g.400584_400597del, NG_016195.1:g.400585_400597del, NG_016195.1:g.400586_400597del, NG_016195.1:g.400587_400597del, NG_016195.1:g.400588_400597del, NG_016195.1:g.400589_400597del, NG_016195.1:g.400590_400597del, NG_016195.1:g.400591_400597del, NG_016195.1:g.400592_400597del, NG_016195.1:g.400593_400597del, NG_016195.1:g.400594_400597del, NG_016195.1:g.400595_400597del, NG_016195.1:g.400596_400597del, NG_016195.1:g.400597del, NG_016195.1:g.400597dup, NG_016195.1:g.400596_400597dup, NG_016195.1:g.400595_400597dup, NG_016195.1:g.400594_400597dup, NG_016195.1:g.400593_400597dup, NG_016195.1:g.400592_400597dup, NG_016195.1:g.400591_400597dup, NG_016195.1:g.400590_400597dup, NG_016195.1:g.400589_400597dup, NG_016195.1:g.400588_400597dup, NG_016195.1:g.400587_400597dup, NG_016195.1:g.400577_400597dup, NG_016195.1:g.400573_400597dup

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