SNP Links for Protein (Select 972781524) - SNP

Links from Protein

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Select item 14913006151.

rs1491300615 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:136433158 (GRCh38)
9:139327610 (GRCh37)
Canonical SPDI:: NC_000009.12:136433156:GAG:G
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (GnomAD)
-=0.00015/12 (ExAC)
HGVS:: NC_000009.12:g.136433158_136433159del, NC_000009.11:g.139327610_139327611del, NG_016126.1:g.11647_11648del, NM_019892.6:c.1156_1157del, NM_019892.5:c.1156_1157del, NM_019892.4:c.1156_1157del, NM_001318502.2:c.1156_1157del, NM_001318502.1:c.1156_1157del, XR_929828.3:n.1582_1583del, XR_929828.2:n.1598_1599del, XR_929828.1:n.1596_1597del, XM_017014926.2:c.1156_1157del, XM_017014926.1:c.1156_1157del, XM_047423603.1:c.1156_1157del, NP_063945.2:p.Ser386fs, NP_001305431.1:p.Ser386fs, XP_016870415.1:p.Ser386fs, XP_047279559.1:p.Ser386fs

Select item 14886069702.

rs1488606970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:136433244 (GRCh38)
9:139327696 (GRCh37)
Canonical SPDI:: NC_000009.12:136433243:C:A
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.136433244C>A, NC_000009.11:g.139327696C>A, NG_016126.1:g.11561G>T, NM_019892.6:c.1070G>T, NM_019892.5:c.1070G>T, NM_019892.4:c.1070G>T, NM_001318502.2:c.1070G>T, NM_001318502.1:c.1070G>T, XR_929828.3:n.1496G>T, XR_929828.2:n.1512G>T, XR_929828.1:n.1510G>T, XM_017014926.2:c.1070G>T, XM_017014926.1:c.1070G>T, XM_047423603.1:c.1070G>T, NP_063945.2:p.Gly357Val, NP_001305431.1:p.Gly357Val, XP_016870415.1:p.Gly357Val, XP_047279559.1:p.Gly357Val

Select item 14867949023.

rs1486794902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136438703 (GRCh38)
9:139333155 (GRCh37)
Canonical SPDI:: NC_000009.12:136438702:C:T
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000009.12:g.136438703C>T, NC_000009.11:g.139333155C>T, NG_016126.1:g.6102G>A, NM_019892.6:c.717G>A, NM_019892.5:c.717G>A, NM_019892.4:c.717G>A, NM_001318502.2:c.717G>A, NM_001318502.1:c.717G>A, XR_929828.3:n.1143G>A, XR_929828.2:n.1159G>A, XR_929828.1:n.1157G>A, XM_017014926.2:c.717G>A, XM_017014926.1:c.717G>A, XM_047423603.1:c.717G>A

Select item 14855699044.

rs1485569904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136439139 (GRCh38)
9:139333591 (GRCh37)
Canonical SPDI:: NC_000009.12:136439138:C:G
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.136439139C>G, NC_000009.11:g.139333591C>G, NG_016126.1:g.5666G>C, NM_019892.6:c.281G>C, NM_019892.5:c.281G>C, NM_019892.4:c.281G>C, NM_001318502.2:c.281G>C, NM_001318502.1:c.281G>C, XR_929828.3:n.707G>C, XR_929828.2:n.723G>C, XR_929828.1:n.721G>C, XM_017014926.2:c.281G>C, XM_017014926.1:c.281G>C, XM_047423603.1:c.281G>C, NP_063945.2:p.Arg94Thr, NP_001305431.1:p.Arg94Thr, XP_016870415.1:p.Arg94Thr, XP_047279559.1:p.Arg94Thr

Select item 14848281815.

rs1484828181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:136439166 (GRCh38)
9:139333618 (GRCh37)
Canonical SPDI:: NC_000009.12:136439165:G:C
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136439166G>C, NC_000009.11:g.139333618G>C, NG_016126.1:g.5639C>G, NM_019892.6:c.254C>G, NM_019892.5:c.254C>G, NM_019892.4:c.254C>G, NM_001318502.2:c.254C>G, NM_001318502.1:c.254C>G, XR_929828.3:n.680C>G, XR_929828.2:n.696C>G, XR_929828.1:n.694C>G, XM_017014926.2:c.254C>G, XM_017014926.1:c.254C>G, XM_047423603.1:c.254C>G, NP_063945.2:p.Ser85Cys, NP_001305431.1:p.Ser85Cys, XP_016870415.1:p.Ser85Cys, XP_047279559.1:p.Ser85Cys

Select item 14833408586.

rs1483340858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136439401 (GRCh38)
9:139333853 (GRCh37)
Canonical SPDI:: NC_000009.12:136439400:T:C
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136439401T>C, NC_000009.11:g.139333853T>C, NG_016126.1:g.5404A>G, NM_019892.6:c.19A>G, NM_019892.5:c.19A>G, NM_019892.4:c.19A>G, NM_001318502.2:c.19A>G, NM_001318502.1:c.19A>G, XR_929828.3:n.445A>G, XR_929828.2:n.461A>G, XR_929828.1:n.459A>G, XM_017014926.2:c.19A>G, XM_017014926.1:c.19A>G, XM_047423603.1:c.19A>G, NP_063945.2:p.Asn7Asp, NP_001305431.1:p.Asn7Asp, XP_016870415.1:p.Asn7Asp, XP_047279559.1:p.Asn7Asp

Select item 14824452297.

rs1482445229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136438655 (GRCh38)
9:139333107 (GRCh37)
Canonical SPDI:: NC_000009.12:136438654:G:A
Gene:: INPP5E (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=0.00001/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.136438655G>A, NC_000009.11:g.139333107G>A, NG_016126.1:g.6150C>T, NM_019892.6:c.765C>T, NM_019892.5:c.765C>T, NM_019892.4:c.765C>T, NM_001318502.2:c.765C>T, NM_001318502.1:c.765C>T, XR_929828.3:n.1191C>T, XR_929828.2:n.1207C>T, XR_929828.1:n.1205C>T, XM_017014926.2:c.765C>T, XM_017014926.1:c.765C>T, XM_047423603.1:c.765C>T

Select item 14806660518.

rs1480666051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136430402 (GRCh38)
9:139324854 (GRCh37)
Canonical SPDI:: NC_000009.12:136430401:C:T
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136430402C>T, NC_000009.11:g.139324854C>T, NG_016126.1:g.14403G>A, NM_019892.6:c.1677G>A, NM_019892.5:c.1677G>A, NM_019892.4:c.1677G>A, NM_001318502.2:c.1674G>A, NM_001318502.1:c.1674G>A, XM_017014926.2:c.1677G>A, XM_017014926.1:c.1677G>A, XM_047423603.1:c.1674G>A

Select item 14803113069.

rs1480311306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136429683 (GRCh38)
9:139324135 (GRCh37)
Canonical SPDI:: NC_000009.12:136429682:C:T
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136429683C>T, NC_000009.11:g.139324135C>T, NG_016126.1:g.15122G>A, NM_019892.6:c.1927G>A, NM_019892.5:c.1927G>A, NM_019892.4:c.1927G>A, NM_001318502.2:c.1924G>A, NM_001318502.1:c.1924G>A, XM_017014926.2:c.*71G>A, XM_017014926.1:c.*71G>A, XM_047423603.1:c.*71G>A, NP_063945.2:p.Val643Ile, NP_001305431.1:p.Val642Ile

Select item 148029280010.

rs1480292800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136439188 (GRCh38)
9:139333640 (GRCh37)
Canonical SPDI:: NC_000009.12:136439187:G:A
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000009.12:g.136439188G>A, NC_000009.11:g.139333640G>A, NG_016126.1:g.5617C>T, NM_019892.6:c.232C>T, NM_019892.5:c.232C>T, NM_019892.4:c.232C>T, NM_001318502.2:c.232C>T, NM_001318502.1:c.232C>T, XR_929828.3:n.658C>T, XR_929828.2:n.674C>T, XR_929828.1:n.672C>T, XM_017014926.2:c.232C>T, XM_017014926.1:c.232C>T, XM_047423603.1:c.232C>T, NP_063945.2:p.Pro78Ser, NP_001305431.1:p.Pro78Ser, XP_016870415.1:p.Pro78Ser, XP_047279559.1:p.Pro78Ser

Select item 147944339411.

rs1479443394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:136438990 (GRCh38)
9:139333442 (GRCh37)
Canonical SPDI:: NC_000009.12:136438989:G:A,NC_000009.12:136438989:G:C
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00023/61 (TOPMED)
C=0.000314/44 (GnomAD)
HGVS:: NC_000009.12:g.136438990G>A, NC_000009.12:g.136438990G>C, NC_000009.11:g.139333442G>A, NC_000009.11:g.139333442G>C, NG_016126.1:g.5815C>T, NG_016126.1:g.5815C>G, NM_019892.6:c.430C>T, NM_019892.6:c.430C>G, NM_019892.5:c.430C>T, NM_019892.5:c.430C>G, NM_019892.4:c.430C>T, NM_019892.4:c.430C>G, NM_001318502.2:c.430C>T, NM_001318502.2:c.430C>G, NM_001318502.1:c.430C>T, NM_001318502.1:c.430C>G, XR_929828.3:n.856C>T, XR_929828.3:n.856C>G, XR_929828.2:n.872C>T, XR_929828.2:n.872C>G, XR_929828.1:n.870C>T, XR_929828.1:n.870C>G, XM_017014926.2:c.430C>T, XM_017014926.2:c.430C>G, XM_017014926.1:c.430C>T, XM_017014926.1:c.430C>G, XM_047423603.1:c.430C>T, XM_047423603.1:c.430C>G, NP_063945.2:p.Arg144Cys, NP_063945.2:p.Arg144Gly, NP_001305431.1:p.Arg144Cys, NP_001305431.1:p.Arg144Gly, XP_016870415.1:p.Arg144Cys, XP_016870415.1:p.Arg144Gly, XP_047279559.1:p.Arg144Cys, XP_047279559.1:p.Arg144Gly

Select item 147881562112.

rs1478815621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136439312 (GRCh38)
9:139333764 (GRCh37)
Canonical SPDI:: NC_000009.12:136439311:C:G
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000009.12:g.136439312C>G, NC_000009.11:g.139333764C>G, NG_016126.1:g.5493G>C, NM_019892.6:c.108G>C, NM_019892.5:c.108G>C, NM_019892.4:c.108G>C, NM_001318502.2:c.108G>C, NM_001318502.1:c.108G>C, XR_929828.3:n.534G>C, XR_929828.2:n.550G>C, XR_929828.1:n.548G>C, XM_017014926.2:c.108G>C, XM_017014926.1:c.108G>C, XM_047423603.1:c.108G>C

Select item 147838885413.

rs1478388854 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 9:136434802 (GRCh38)
9:139329254 (GRCh37)
Canonical SPDI:: NC_000009.12:136434801:GGG:GG
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136434804del, NC_000009.11:g.139329256del, NG_016126.1:g.10003del, NM_019892.6:c.874del, NM_019892.5:c.874del, NM_019892.4:c.874del, NM_001318502.2:c.874del, NM_001318502.1:c.874del, XR_929828.3:n.1300del, XR_929828.2:n.1316del, XR_929828.1:n.1314del, XM_017014926.2:c.874del, XM_017014926.1:c.874del, XM_047423603.1:c.874del, NP_063945.2:p.Arg292fs, NP_001305431.1:p.Arg292fs, XP_016870415.1:p.Arg292fs, XP_047279559.1:p.Arg292fs

Select item 147792648314.

rs1477926483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136439388 (GRCh38)
9:139333840 (GRCh37)
Canonical SPDI:: NC_000009.12:136439387:G:A
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.136439388G>A, NC_000009.11:g.139333840G>A, NG_016126.1:g.5417C>T, NM_019892.6:c.32C>T, NM_019892.5:c.32C>T, NM_019892.4:c.32C>T, NM_001318502.2:c.32C>T, NM_001318502.1:c.32C>T, XR_929828.3:n.458C>T, XR_929828.2:n.474C>T, XR_929828.1:n.472C>T, XM_017014926.2:c.32C>T, XM_017014926.1:c.32C>T, XM_047423603.1:c.32C>T, NP_063945.2:p.Ser11Phe, NP_001305431.1:p.Ser11Phe, XP_016870415.1:p.Ser11Phe, XP_047279559.1:p.Ser11Phe

Select item 147706798715.

rs1477067987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:136429761 (GRCh38)
9:139324213 (GRCh37)
Canonical SPDI:: NC_000009.12:136429760:C:G,NC_000009.12:136429760:C:T
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,splice_acceptor_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136429761C>G, NC_000009.12:g.136429761C>T, NC_000009.11:g.139324213C>G, NC_000009.11:g.139324213C>T, NG_016126.1:g.15044G>C, NG_016126.1:g.15044G>A, NM_019892.6:c.1849G>C, NM_019892.6:c.1849G>A, NM_019892.5:c.1849G>C, NM_019892.5:c.1849G>A, NM_019892.4:c.1849G>C, NM_019892.4:c.1849G>A, NM_001318502.2:c.1846G>C, NM_001318502.2:c.1846G>A, NM_001318502.1:c.1846G>C, NM_001318502.1:c.1846G>A, NP_063945.2:p.Gly617Arg, NP_063945.2:p.Gly617Arg, NP_001305431.1:p.Gly616Arg, NP_001305431.1:p.Gly616Arg

Select item 147684628716.

rs1476846287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:136439235 (GRCh38)
9:139333687 (GRCh37)
Canonical SPDI:: NC_000009.12:136439234:T:G
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.136439235T>G, NC_000009.11:g.139333687T>G, NG_016126.1:g.5570A>C, NM_019892.6:c.185A>C, NM_019892.5:c.185A>C, NM_019892.4:c.185A>C, NM_001318502.2:c.185A>C, NM_001318502.1:c.185A>C, XR_929828.3:n.611A>C, XR_929828.2:n.627A>C, XR_929828.1:n.625A>C, XM_017014926.2:c.185A>C, XM_017014926.1:c.185A>C, XM_047423603.1:c.185A>C, NP_063945.2:p.Asp62Ala, NP_001305431.1:p.Asp62Ala, XP_016870415.1:p.Asp62Ala, XP_047279559.1:p.Asp62Ala

Select item 147406100817.

rs1474061008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136432531 (GRCh38)
9:139326983 (GRCh37)
Canonical SPDI:: NC_000009.12:136432530:G:A
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136432531G>A, NC_000009.11:g.139326983G>A, NG_016126.1:g.12274C>T, NM_019892.6:c.1335C>T, NM_019892.5:c.1335C>T, NM_019892.4:c.1335C>T, NM_001318502.2:c.1332C>T, NM_001318502.1:c.1332C>T, XR_929828.3:n.1761C>T, XR_929828.2:n.1777C>T, XR_929828.1:n.1775C>T, XM_017014926.2:c.1335C>T, XM_017014926.1:c.1335C>T, XM_047423603.1:c.1332C>T

Select item 147403016618.

rs1474030166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136431014 (GRCh38)
9:139325466 (GRCh37)
Canonical SPDI:: NC_000009.12:136431013:C:T
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.00006/1 (TOMMO)
HGVS:: NC_000009.12:g.136431014C>T, NC_000009.11:g.139325466C>T, NG_016126.1:g.13791G>A, NM_019892.6:c.1653G>A, NM_019892.5:c.1653G>A, NM_019892.4:c.1653G>A, NM_001318502.2:c.1650G>A, NM_001318502.1:c.1650G>A, XM_017014926.2:c.1653G>A, XM_017014926.1:c.1653G>A, XM_047423603.1:c.1650G>A

Select item 147344700019.

rs1473447000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:136430338 (GRCh38)
9:139324790 (GRCh37)
Canonical SPDI:: NC_000009.12:136430337:T:A
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136430338T>A, NC_000009.11:g.139324790T>A, NG_016126.1:g.14467A>T, NM_019892.6:c.1741A>T, NM_019892.5:c.1741A>T, NM_019892.4:c.1741A>T, NM_001318502.2:c.1738A>T, NM_001318502.1:c.1738A>T, XM_017014926.2:c.1741A>T, XM_017014926.1:c.1741A>T, XM_047423603.1:c.1738A>T, NP_063945.2:p.Thr581Ser, NP_001305431.1:p.Thr580Ser, XP_016870415.1:p.Thr581Ser, XP_047279559.1:p.Thr580Ser

Select item 147315156320.

rs1473151563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136432581 (GRCh38)
9:139327033 (GRCh37)
Canonical SPDI:: NC_000009.12:136432580:C:T
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000034/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136432581C>T, NC_000009.11:g.139327033C>T, NG_016126.1:g.12224G>A, NM_019892.6:c.1285G>A, NM_019892.5:c.1285G>A, NM_019892.4:c.1285G>A, NM_001318502.2:c.1282G>A, NM_001318502.1:c.1282G>A, XR_929828.3:n.1711G>A, XR_929828.2:n.1727G>A, XR_929828.1:n.1725G>A, XM_017014926.2:c.1285G>A, XM_017014926.1:c.1285G>A, XM_047423603.1:c.1282G>A, NP_063945.2:p.Asp429Asn, NP_001305431.1:p.Asp428Asn, XP_016870415.1:p.Asp429Asn, XP_047279559.1:p.Asp428Asn

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