SNP Links for Protein (Select 154816186) - SNP

Links from Protein

Items: 1 to 20 of 252

<< First< Prev

Page of 13

Next >Last >>

Select item 14863354811.

rs1486335481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20458677 (GRCh38)
14:20926836 (GRCh37)
Canonical SPDI:: NC_000014.9:20458676:C:T
Gene:: PIP4P1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20458677C>T, NG_008718.1:g.8547C>T, NW_025791796.1:g.661358C>T, NC_000014.8:g.20926836C>T, NM_144568.4:c.716G>A, NM_144568.3:c.716G>A, NM_144568.2:c.716G>A, NM_001100814.3:c.737G>A, NM_001100814.2:c.737G>A, NM_001100814.1:c.737G>A, XM_024449739.2:c.631G>A, XM_024449739.1:c.631G>A, XM_024449740.2:c.610G>A, XM_024449740.1:c.610G>A, NP_653169.2:p.Arg239Gln, NP_001094284.1:p.Arg246Gln, XP_024305507.1:p.Asp211Asn, XP_024305508.1:p.Asp204Asn

Select item 14798248362.

rs1479824836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:20459636 (GRCh38)
14:20927795 (GRCh37)
Canonical SPDI:: NC_000014.9:20459635:T:A
Gene:: PIP4P1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20459636T>A, NG_008718.1:g.9506T>A, NW_025791796.1:g.662317T>A, NC_000014.8:g.20927795T>A, NM_144568.4:c.538A>T, NM_144568.3:c.538A>T, NM_144568.2:c.538A>T, NM_001100814.3:c.559A>T, NM_001100814.2:c.559A>T, NM_001100814.1:c.559A>T, NP_653169.2:p.Thr180Ser, NP_001094284.1:p.Thr187Ser

Select item 14774685603.

rs1477468560 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 14:20460279 (GRCh38)
14:20928438 (GRCh37)
Canonical SPDI:: NC_000014.9:20460278:GGGGG:GGGG,NC_000014.9:20460278:GGGGG:GGGGGG
Gene:: PIP4P1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
HGVS:: NC_000014.9:g.20460283del, NC_000014.9:g.20460283dup, NW_025791796.1:g.662964del, NW_025791796.1:g.662964dup, NC_000014.8:g.20928442del, NC_000014.8:g.20928442dup, NM_144568.4:c.353del, NM_144568.4:c.353dup, NM_144568.3:c.353del, NM_144568.3:c.353dup, NM_144568.2:c.353del, NM_144568.2:c.353dup, NM_001100814.3:c.374del, NM_001100814.3:c.374dup, NM_001100814.2:c.374del, NM_001100814.2:c.374dup, NM_001100814.1:c.374del, NM_001100814.1:c.374dup, XM_024449739.2:c.374del, XM_024449739.2:c.374dup, XM_024449739.1:c.374del, XM_024449739.1:c.374dup, XM_024449740.2:c.353del, XM_024449740.2:c.353dup, XM_024449740.1:c.353del, XM_024449740.1:c.353dup, NP_653169.2:p.Pro118fs, NP_653169.2:p.Gly119fs, NP_001094284.1:p.Pro125fs, NP_001094284.1:p.Gly126fs, XP_024305507.1:p.Pro125fs, XP_024305507.1:p.Gly126fs, XP_024305508.1:p.Pro118fs, XP_024305508.1:p.Gly119fs

Select item 14727597944.

rs1472759794 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:20458625 (GRCh38)
14:20926784 (GRCh37)
Canonical SPDI:: NC_000014.9:20458621:ACACA:ACA
Gene:: PIP4P1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.20458623CA[1], NG_008718.1:g.8493CA[1], NW_025791796.1:g.661304CA[1], NC_000014.8:g.20926782CA[1], NM_144568.4:c.770_771del, NM_144568.3:c.770_771del, NM_144568.2:c.770_771del, NM_001100814.3:c.791_792del, NM_001100814.2:c.791_792del, NM_001100814.1:c.791_792del, XM_024449739.2:c.685_686del, XM_024449739.1:c.685_686del, XM_024449740.2:c.664_665del, XM_024449740.1:c.664_665del, NP_653169.2:p.Cys257fs, NP_001094284.1:p.Cys264fs, XP_024305507.1:p.Val229fs, XP_024305508.1:p.Val222fs

Select item 14720670505.

rs1472067050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20459404 (GRCh38)
14:20927563 (GRCh37)
Canonical SPDI:: NC_000014.9:20459403:G:A
Gene:: PIP4P1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20459404G>A, NG_008718.1:g.9274G>A, NW_025791796.1:g.662085G>A, NC_000014.8:g.20927563G>A, NM_144568.4:c.583C>T, NM_144568.3:c.583C>T, NM_144568.2:c.583C>T, NM_001100814.3:c.604C>T, NM_001100814.2:c.604C>T, NM_001100814.1:c.604C>T, XM_024449739.2:c.498C>T, XM_024449739.1:c.498C>T, XM_024449740.2:c.477C>T, XM_024449740.1:c.477C>T, NP_653169.2:p.Pro195Ser, NP_001094284.1:p.Pro202Ser

Select item 14559508556.

rs1455950855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20459660 (GRCh38)
14:20927819 (GRCh37)
Canonical SPDI:: NC_000014.9:20459659:C:T
Gene:: PIP4P1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20459660C>T, NG_008718.1:g.9530C>T, NW_025791796.1:g.662341C>T, NC_000014.8:g.20927819C>T, NM_144568.4:c.514G>A, NM_144568.3:c.514G>A, NM_144568.2:c.514G>A, NM_001100814.3:c.535G>A, NM_001100814.2:c.535G>A, NM_001100814.1:c.535G>A, NP_653169.2:p.Val172Ile, NP_001094284.1:p.Val179Ile

Select item 14527149047.

rs1452714904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20461171 (GRCh38)
14:20929330 (GRCh37)
Canonical SPDI:: NC_000014.9:20461170:G:A
Gene:: PIP4P1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000014.9:g.20461171G>A, NW_025791796.1:g.663852G>A, NC_000014.8:g.20929330G>A, NM_001100814.3:c.155C>T, NM_001100814.2:c.155C>T, NM_001100814.1:c.155C>T, XM_024449739.2:c.155C>T, XM_024449739.1:c.155C>T, NP_001094284.1:p.Pro52Leu, XP_024305507.1:p.Pro52Leu

Select item 14514085038.

rs1451408503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:20461279 (GRCh38)
14:20929438 (GRCh37)
Canonical SPDI:: NC_000014.9:20461278:T:C
Gene:: PIP4P1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00278/33 (ALFA)
HGVS:: NC_000014.9:g.20461279T>C, NW_025791796.1:g.663960T>C, NC_000014.8:g.20929438T>C, NM_144568.4:c.47A>G, NM_144568.3:c.47A>G, NM_144568.2:c.47A>G, NM_001100814.3:c.47A>G, NM_001100814.2:c.47A>G, NM_001100814.1:c.47A>G, XM_024449739.2:c.47A>G, XM_024449739.1:c.47A>G, XM_024449740.2:c.47A>G, XM_024449740.1:c.47A>G, NP_653169.2:p.Asp16Gly, NP_001094284.1:p.Asp16Gly, XP_024305507.1:p.Asp16Gly, XP_024305508.1:p.Asp16Gly

Select item 14422156379.

rs1442215637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20460682 (GRCh38)
14:20928841 (GRCh37)
Canonical SPDI:: NC_000014.9:20460681:G:A
Gene:: PIP4P1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20460682G>A, NW_025791796.1:g.663363G>A, NC_000014.8:g.20928841G>A, NM_144568.4:c.306C>T, NM_144568.3:c.306C>T, NM_144568.2:c.306C>T, NM_001100814.3:c.327C>T, NM_001100814.2:c.327C>T, NM_001100814.1:c.327C>T, XM_024449739.2:c.327C>T, XM_024449739.1:c.327C>T, XM_024449740.2:c.306C>T, XM_024449740.1:c.306C>T

Select item 143357129210.

rs1433571292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:20459675 (GRCh38)
14:20927834 (GRCh37)
Canonical SPDI:: NC_000014.9:20459674:G:A,NC_000014.9:20459674:G:T
Gene:: PIP4P1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000045/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.20459675G>A, NC_000014.9:g.20459675G>T, NG_008718.1:g.9545G>A, NG_008718.1:g.9545G>T, NW_025791796.1:g.662356G>A, NW_025791796.1:g.662356G>T, NC_000014.8:g.20927834G>A, NC_000014.8:g.20927834G>T, NM_144568.4:c.499C>T, NM_144568.4:c.499C>A, NM_144568.3:c.499C>T, NM_144568.3:c.499C>A, NM_144568.2:c.499C>T, NM_144568.2:c.499C>A, NM_001100814.3:c.520C>T, NM_001100814.3:c.520C>A, NM_001100814.2:c.520C>T, NM_001100814.2:c.520C>A, NM_001100814.1:c.520C>T, NM_001100814.1:c.520C>A, NP_653169.2:p.Pro167Ser, NP_653169.2:p.Pro167Thr, NP_001094284.1:p.Pro174Ser, NP_001094284.1:p.Pro174Thr

Select item 142929492611.

rs1429294926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:20460817 (GRCh38)
14:20928976 (GRCh37)
Canonical SPDI:: NC_000014.9:20460816:T:C,NC_000014.9:20460816:T:G
Gene:: PIP4P1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20460817T>C, NC_000014.9:g.20460817T>G, NW_025791796.1:g.663498T>C, NW_025791796.1:g.663498T>G, NC_000014.8:g.20928976T>C, NC_000014.8:g.20928976T>G, NM_144568.4:c.171A>G, NM_144568.4:c.171A>C, NM_144568.3:c.171A>G, NM_144568.3:c.171A>C, NM_144568.2:c.171A>G, NM_144568.2:c.171A>C, NM_001100814.3:c.192A>G, NM_001100814.3:c.192A>C, NM_001100814.2:c.192A>G, NM_001100814.2:c.192A>C, NM_001100814.1:c.192A>G, NM_001100814.1:c.192A>C, XM_024449739.2:c.192A>G, XM_024449739.2:c.192A>C, XM_024449739.1:c.192A>G, XM_024449739.1:c.192A>C, XM_024449740.2:c.171A>G, XM_024449740.2:c.171A>C, XM_024449740.1:c.171A>G, XM_024449740.1:c.171A>C

Select item 142921814812.

rs1429218148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:20459661 (GRCh38)
14:20927820 (GRCh37)
Canonical SPDI:: NC_000014.9:20459660:C:A
Gene:: PIP4P1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20459661C>A, NG_008718.1:g.9531C>A, NW_025791796.1:g.662342C>A, NC_000014.8:g.20927820C>A, NM_144568.4:c.513G>T, NM_144568.3:c.513G>T, NM_144568.2:c.513G>T, NM_001100814.3:c.534G>T, NM_001100814.2:c.534G>T, NM_001100814.1:c.534G>T, NP_653169.2:p.Arg171Ser, NP_001094284.1:p.Arg178Ser

Select item 142577810813.

rs1425778108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:20459733 (GRCh38)
14:20927892 (GRCh37)
Canonical SPDI:: NC_000014.9:20459732:G:C
Gene:: PIP4P1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.20459733G>C, NG_008718.1:g.9603G>C, NW_025791796.1:g.662414G>C, NC_000014.8:g.20927892G>C, NM_144568.4:c.441C>G, NM_144568.3:c.441C>G, NM_144568.2:c.441C>G, NM_001100814.3:c.462C>G, NM_001100814.2:c.462C>G, NM_001100814.1:c.462C>G, NP_653169.2:p.Cys147Trp, NP_001094284.1:p.Cys154Trp

Select item 142499380714.

rs1424993807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20460802 (GRCh38)
14:20928961 (GRCh37)
Canonical SPDI:: NC_000014.9:20460801:C:T
Gene:: PIP4P1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.20460802C>T, NW_025791796.1:g.663483C>T, NC_000014.8:g.20928961C>T, NM_144568.4:c.186G>A, NM_144568.3:c.186G>A, NM_144568.2:c.186G>A, NM_001100814.3:c.207G>A, NM_001100814.2:c.207G>A, NM_001100814.1:c.207G>A, XM_024449739.2:c.207G>A, XM_024449739.1:c.207G>A, XM_024449740.2:c.186G>A, XM_024449740.1:c.186G>A

Select item 142480844215.

rs1424808442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:20461209 (GRCh38)
14:20929368 (GRCh37)
Canonical SPDI:: NC_000014.9:20461208:G:A,NC_000014.9:20461208:G:T
Gene:: PIP4P1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.20461209G>A, NC_000014.9:g.20461209G>T, NW_025791796.1:g.663890G>A, NW_025791796.1:g.663890G>T, NC_000014.8:g.20929368G>A, NC_000014.8:g.20929368G>T, NM_144568.4:c.117C>T, NM_144568.4:c.117C>A, NM_144568.3:c.117C>T, NM_144568.3:c.117C>A, NM_144568.2:c.117C>T, NM_144568.2:c.117C>A, NM_001100814.3:c.117C>T, NM_001100814.3:c.117C>A, NM_001100814.2:c.117C>T, NM_001100814.2:c.117C>A, NM_001100814.1:c.117C>T, NM_001100814.1:c.117C>A, XM_024449739.2:c.117C>T, XM_024449739.2:c.117C>A, XM_024449739.1:c.117C>T, XM_024449739.1:c.117C>A, XM_024449740.2:c.117C>T, XM_024449740.2:c.117C>A, XM_024449740.1:c.117C>T, XM_024449740.1:c.117C>A

Select item 142361998016.

rs1423619980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20461199 (GRCh38)
14:20929358 (GRCh37)
Canonical SPDI:: NC_000014.9:20461198:G:A
Gene:: PIP4P1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20461199G>A, NW_025791796.1:g.663880G>A, NC_000014.8:g.20929358G>A, NM_144568.4:c.127C>T, NM_144568.3:c.127C>T, NM_144568.2:c.127C>T, NM_001100814.3:c.127C>T, NM_001100814.2:c.127C>T, NM_001100814.1:c.127C>T, XM_024449739.2:c.127C>T, XM_024449739.1:c.127C>T, XM_024449740.2:c.127C>T, XM_024449740.1:c.127C>T, NP_653169.2:p.Pro43Ser, NP_001094284.1:p.Pro43Ser, XP_024305507.1:p.Pro43Ser, XP_024305508.1:p.Pro43Ser

Select item 142319363517.

rs1423193635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20460822 (GRCh38)
14:20928981 (GRCh37)
Canonical SPDI:: NC_000014.9:20460821:G:A
Gene:: PIP4P1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20460822G>A, NW_025791796.1:g.663503G>A, NC_000014.8:g.20928981G>A, NM_144568.4:c.166C>T, NM_144568.3:c.166C>T, NM_144568.2:c.166C>T, NM_001100814.3:c.187C>T, NM_001100814.2:c.187C>T, NM_001100814.1:c.187C>T, XM_024449739.2:c.187C>T, XM_024449739.1:c.187C>T, XM_024449740.2:c.166C>T, XM_024449740.1:c.166C>T, NP_653169.2:p.His56Tyr, NP_001094284.1:p.His63Tyr, XP_024305507.1:p.His63Tyr, XP_024305508.1:p.His56Tyr

Select item 142241023018.

rs1422410230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20459228 (GRCh38)
14:20927387 (GRCh37)
Canonical SPDI:: NC_000014.9:20459227:G:A
Gene:: PIP4P1 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20459228G>A, NG_008718.1:g.9098G>A, NW_025791796.1:g.661909G>A, NC_000014.8:g.20927387G>A, NM_144568.4:c.668C>T, NM_144568.3:c.668C>T, NM_144568.2:c.668C>T, NM_001100814.3:c.689C>T, NM_001100814.2:c.689C>T, NM_001100814.1:c.689C>T, XM_024449739.2:c.583C>T, XM_024449739.1:c.583C>T, XM_024449740.2:c.562C>T, XM_024449740.1:c.562C>T, NP_653169.2:p.Ala223Val, NP_001094284.1:p.Ala230Val, XP_024305507.1:p.Gln195Ter, XP_024305508.1:p.Gln188Ter

Select item 141621243419.

rs1416212434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20460836 (GRCh38)
14:20928995 (GRCh37)
Canonical SPDI:: NC_000014.9:20460835:G:A
Gene:: PIP4P1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.20460836G>A, NW_025791796.1:g.663517G>A, NC_000014.8:g.20928995G>A, NM_144568.4:c.152C>T, NM_144568.3:c.152C>T, NM_144568.2:c.152C>T, NM_001100814.3:c.173C>T, NM_001100814.2:c.173C>T, NM_001100814.1:c.173C>T, XM_024449739.2:c.173C>T, XM_024449739.1:c.173C>T, XM_024449740.2:c.152C>T, XM_024449740.1:c.152C>T, NP_653169.2:p.Pro51Leu, NP_001094284.1:p.Pro58Leu, XP_024305507.1:p.Pro58Leu, XP_024305508.1:p.Pro51Leu

Select item 141422083020.

rs1414220830 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCTCCCCCGGGCCCAGCCC [Show Flanks]
Chromosome:: 14:20461214 (GRCh38)
14:20929374 (GRCh37)
Canonical SPDI:: NC_000014.9:20461214:GCCTCCCCCGGGCCCAGCCC:GCCTCCCCCGGGCCCAGCCCGCCTCCCCCGGGCCCAGCCC
Gene:: PIP4P1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCTCCCCCGGGCCCAGCCCGCCTCCCCCGGGCCCAGCCC=0./0 (ALFA)
GCCTCCCCCGGGCCCAGCCC=0.000011/3 (TOPMED)
GCCTCCCCCGGGCCCAGCCC=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.20461215_20461234dup, NW_025791796.1:g.663896_663915dup, NC_000014.8:g.20929374_20929393dup, NM_144568.4:c.92_111dup, NM_144568.3:c.92_111dup, NM_144568.2:c.92_111dup, NM_001100814.3:c.92_111dup, NM_001100814.2:c.92_111dup, NM_001100814.1:c.92_111dup, XM_024449739.2:c.92_111dup, XM_024449739.1:c.92_111dup, XM_024449740.2:c.92_111dup, XM_024449740.1:c.92_111dup, NP_653169.2:p.Leu38fs, NP_001094284.1:p.Leu38fs, XP_024305507.1:p.Leu38fs, XP_024305508.1:p.Leu38fs

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 252

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity