SNP Links for Protein (Select 22547215) - SNP

Links from Protein

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Select item 14885621181.

rs1488562118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:21669917 (GRCh38)
22:22024206 (GRCh37)
Canonical SPDI:: NC_000022.11:21669916:A:G
Gene:: PPIL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21669917A>G, NC_000022.10:g.22024206A>G, NM_014337.4:c.37A>G, NM_014337.3:c.37A>G, XM_011530041.4:c.37A>G, XM_011530041.3:c.37A>G, XM_011530041.2:c.37A>G, XM_011530041.1:c.37A>G, XM_011530046.4:c.37A>G, XM_011530046.3:c.37A>G, XM_011530046.2:c.37A>G, XM_011530046.1:c.37A>G, XM_011530043.4:c.37A>G, XM_011530043.3:c.37A>G, XM_011530043.2:c.37A>G, XM_011530043.1:c.37A>G, NM_148175.3:c.37A>G, NM_148175.2:c.37A>G, XM_011530049.3:c.-576A>G, XM_011530049.2:c.-576A>G, XM_011530049.1:c.-576A>G, NM_148176.3:c.37A>G, NM_148176.2:c.37A>G, NM_001317996.2:c.37A>G, NM_001317996.1:c.37A>G, XM_024452193.2:c.37A>G, XM_024452193.1:c.37A>G, XM_047441267.1:c.37A>G, NP_055152.1:p.Ile13Val, XP_011528343.1:p.Ile13Val, XP_011528348.1:p.Ile13Val, XP_011528345.1:p.Ile13Val, NP_680480.1:p.Ile13Val, NP_680481.1:p.Ile13Val, NP_001304925.1:p.Ile13Val, XP_024307961.1:p.Ile13Val, XP_047297223.1:p.Ile13Val

Select item 14880134302.

rs1488013430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:21687714 (GRCh38)
22:22042003 (GRCh37)
Canonical SPDI:: NC_000022.11:21687713:A:T
Gene:: PPIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21687714A>T, NC_000022.10:g.22042003A>T, NM_014337.4:c.969A>T, NM_014337.3:c.969A>T, XM_011530041.4:c.969A>T, XM_011530041.3:c.969A>T, XM_011530041.2:c.969A>T, XM_011530041.1:c.969A>T, XM_011530046.4:c.969A>T, XM_011530046.3:c.969A>T, XM_011530046.2:c.969A>T, XM_011530046.1:c.969A>T, XM_011530043.4:c.969A>T, XM_011530043.3:c.969A>T, XM_011530043.2:c.969A>T, XM_011530043.1:c.969A>T, NM_148175.3:c.969A>T, NM_148175.2:c.969A>T, XM_011530049.3:c.435A>T, XM_011530049.2:c.435A>T, XM_011530049.1:c.435A>T, NM_148176.3:c.969A>T, NM_148176.2:c.969A>T, NM_001317996.2:c.969A>T, NM_001317996.1:c.969A>T, XM_024452193.2:c.969A>T, XM_024452193.1:c.969A>T, XM_047441267.1:c.969A>T, XM_047441268.1:c.435A>T, NP_055152.1:p.Arg323Ser, XP_011528343.1:p.Arg323Ser, XP_011528348.1:p.Arg323Ser, XP_011528345.1:p.Arg323Ser, NP_680480.1:p.Arg323Ser, XP_011528351.1:p.Arg145Ser, NP_680481.1:p.Arg323Ser, NP_001304925.1:p.Arg323Ser, XP_024307961.1:p.Arg323Ser, XP_047297223.1:p.Arg323Ser, XP_047297224.1:p.Arg145Ser

Select item 14841906293.

rs1484190629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21688786 (GRCh38)
22:22043075 (GRCh37)
Canonical SPDI:: NC_000022.11:21688785:C:T
Gene:: PPIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21688786C>T, NC_000022.10:g.22043075C>T, NM_014337.4:c.1076C>T, NM_014337.3:c.1076C>T, XM_011530041.4:c.1076C>T, XM_011530041.3:c.1076C>T, XM_011530041.2:c.1076C>T, XM_011530041.1:c.1076C>T, XM_011530046.4:c.1076C>T, XM_011530046.3:c.1076C>T, XM_011530046.2:c.1076C>T, XM_011530046.1:c.1076C>T, XM_011530043.4:c.1076C>T, XM_011530043.3:c.1076C>T, XM_011530043.2:c.1076C>T, XM_011530043.1:c.1076C>T, NM_148175.3:c.1076C>T, NM_148175.2:c.1076C>T, XM_011530049.3:c.542C>T, XM_011530049.2:c.542C>T, XM_011530049.1:c.542C>T, NM_148176.3:c.1076C>T, NM_148176.2:c.1076C>T, NM_001317996.2:c.1076C>T, NM_001317996.1:c.1076C>T, XM_024452193.2:c.1076C>T, XM_024452193.1:c.1076C>T, XM_047441267.1:c.1076C>T, XM_047441268.1:c.542C>T, NP_055152.1:p.Ser359Leu, XP_011528343.1:p.Ser359Leu, XP_011528348.1:p.Ser359Leu, XP_011528345.1:p.Ser359Leu, NP_680480.1:p.Ser359Leu, XP_011528351.1:p.Ser181Leu, NP_680481.1:p.Ser359Leu, NP_001304925.1:p.Ser359Leu, XP_024307961.1:p.Ser359Leu, XP_047297223.1:p.Ser359Leu, XP_047297224.1:p.Ser181Leu

Select item 14774135874.

rs1477413587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21688096 (GRCh38)
22:22042385 (GRCh37)
Canonical SPDI:: NC_000022.11:21688095:C:T
Gene:: PPIL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000022.11:g.21688096C>T, NC_000022.10:g.22042385C>T, NM_014337.4:c.1011C>T, NM_014337.3:c.1011C>T, XM_011530041.4:c.1011C>T, XM_011530041.3:c.1011C>T, XM_011530041.2:c.1011C>T, XM_011530041.1:c.1011C>T, XM_011530046.4:c.1011C>T, XM_011530046.3:c.1011C>T, XM_011530046.2:c.1011C>T, XM_011530046.1:c.1011C>T, XM_011530043.4:c.1011C>T, XM_011530043.3:c.1011C>T, XM_011530043.2:c.1011C>T, XM_011530043.1:c.1011C>T, NM_148175.3:c.1011C>T, NM_148175.2:c.1011C>T, XM_011530049.3:c.477C>T, XM_011530049.2:c.477C>T, XM_011530049.1:c.477C>T, NM_148176.3:c.1011C>T, NM_148176.2:c.1011C>T, NM_001317996.2:c.1011C>T, NM_001317996.1:c.1011C>T, XM_024452193.2:c.1011C>T, XM_024452193.1:c.1011C>T, XM_047441267.1:c.1011C>T, XM_047441268.1:c.477C>T

Select item 14743381015.

rs1474338101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:21687647 (GRCh38)
22:22041936 (GRCh37)
Canonical SPDI:: NC_000022.11:21687646:C:G
Gene:: PPIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.21687647C>G, NC_000022.10:g.22041936C>G, NM_014337.4:c.902C>G, NM_014337.3:c.902C>G, XM_011530041.4:c.902C>G, XM_011530041.3:c.902C>G, XM_011530041.2:c.902C>G, XM_011530041.1:c.902C>G, XM_011530046.4:c.902C>G, XM_011530046.3:c.902C>G, XM_011530046.2:c.902C>G, XM_011530046.1:c.902C>G, XM_011530043.4:c.902C>G, XM_011530043.3:c.902C>G, XM_011530043.2:c.902C>G, XM_011530043.1:c.902C>G, NM_148175.3:c.902C>G, NM_148175.2:c.902C>G, XM_011530049.3:c.368C>G, XM_011530049.2:c.368C>G, XM_011530049.1:c.368C>G, NM_148176.3:c.902C>G, NM_148176.2:c.902C>G, NM_001317996.2:c.902C>G, NM_001317996.1:c.902C>G, XM_024452193.2:c.902C>G, XM_024452193.1:c.902C>G, XM_047441267.1:c.902C>G, XM_047441268.1:c.368C>G, NP_055152.1:p.Pro301Arg, XP_011528343.1:p.Pro301Arg, XP_011528348.1:p.Pro301Arg, XP_011528345.1:p.Pro301Arg, NP_680480.1:p.Pro301Arg, XP_011528351.1:p.Pro123Arg, NP_680481.1:p.Pro301Arg, NP_001304925.1:p.Pro301Arg, XP_024307961.1:p.Pro301Arg, XP_047297223.1:p.Pro301Arg, XP_047297224.1:p.Pro123Arg

Select item 14708902906.

rs1470890290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21695475 (GRCh38)
22:22049764 (GRCh37)
Canonical SPDI:: NC_000022.11:21695474:C:T
Gene:: PPIL2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21695475C>T, NC_000022.10:g.22049764C>T, NM_014337.4:c.1548C>T, NM_014337.3:c.1548C>T, XM_011530041.4:c.1544C>T, XM_011530041.3:c.1544C>T, XM_011530041.2:c.1544C>T, XM_011530041.1:c.1544C>T, XM_011530046.4:c.1548C>T, XM_011530046.3:c.1548C>T, XM_011530046.2:c.1548C>T, XM_011530046.1:c.1548C>T, XM_011530043.4:c.1544C>T, XM_011530043.3:c.1544C>T, XM_011530043.2:c.1544C>T, XM_011530043.1:c.1544C>T, NM_148175.3:c.1548C>T, NM_148175.2:c.1548C>T, XM_011530049.3:c.1010C>T, XM_011530049.2:c.1010C>T, XM_011530049.1:c.1010C>T, NM_148176.3:c.1544C>T, NM_148176.2:c.1544C>T, NM_001317996.2:c.1548C>T, NM_001317996.1:c.1548C>T, XM_047441267.1:c.1544C>T, XM_047441268.1:c.1010C>T, XP_011528343.1:p.Thr515Ile, XP_011528345.1:p.Thr515Ile, XP_011528351.1:p.Thr337Ile, NP_680481.1:p.Thr515Ile, XP_047297223.1:p.Thr515Ile, XP_047297224.1:p.Thr337Ile

Select item 14687214037.

rs1468721403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21684780 (GRCh38)
22:22039069 (GRCh37)
Canonical SPDI:: NC_000022.11:21684779:C:T
Gene:: PPIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21684780C>T, NC_000022.10:g.22039069C>T, NM_014337.4:c.581C>T, NM_014337.3:c.581C>T, XM_011530041.4:c.581C>T, XM_011530041.3:c.581C>T, XM_011530041.2:c.581C>T, XM_011530041.1:c.581C>T, XM_011530046.4:c.581C>T, XM_011530046.3:c.581C>T, XM_011530046.2:c.581C>T, XM_011530046.1:c.581C>T, XM_011530043.4:c.581C>T, XM_011530043.3:c.581C>T, XM_011530043.2:c.581C>T, XM_011530043.1:c.581C>T, NM_148175.3:c.581C>T, NM_148175.2:c.581C>T, XM_011530049.3:c.47C>T, XM_011530049.2:c.47C>T, XM_011530049.1:c.47C>T, NM_148176.3:c.581C>T, NM_148176.2:c.581C>T, NM_001317996.2:c.581C>T, NM_001317996.1:c.581C>T, XM_024452193.2:c.581C>T, XM_024452193.1:c.581C>T, XM_047441267.1:c.581C>T, XM_047441268.1:c.47C>T, NP_055152.1:p.Ser194Phe, XP_011528343.1:p.Ser194Phe, XP_011528348.1:p.Ser194Phe, XP_011528345.1:p.Ser194Phe, NP_680480.1:p.Ser194Phe, XP_011528351.1:p.Ser16Phe, NP_680481.1:p.Ser194Phe, NP_001304925.1:p.Ser194Phe, XP_024307961.1:p.Ser194Phe, XP_047297223.1:p.Ser194Phe, XP_047297224.1:p.Ser16Phe

Select item 14665957958.

rs1466595795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21670606 (GRCh38)
22:22024895 (GRCh37)
Canonical SPDI:: NC_000022.11:21670605:C:T
Gene:: PPIL2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21670606C>T, NC_000022.10:g.22024895C>T, NM_014337.4:c.123C>T, NM_014337.3:c.123C>T, XM_011530041.4:c.123C>T, XM_011530041.3:c.123C>T, XM_011530041.2:c.123C>T, XM_011530041.1:c.123C>T, XM_011530046.4:c.123C>T, XM_011530046.3:c.123C>T, XM_011530046.2:c.123C>T, XM_011530046.1:c.123C>T, XM_011530043.4:c.123C>T, XM_011530043.3:c.123C>T, XM_011530043.2:c.123C>T, XM_011530043.1:c.123C>T, NM_148175.3:c.123C>T, NM_148175.2:c.123C>T, XM_011530049.3:c.-412C>T, XM_011530049.2:c.-412C>T, XM_011530049.1:c.-412C>T, NM_148176.3:c.123C>T, NM_148176.2:c.123C>T, NM_001317996.2:c.123C>T, NM_001317996.1:c.123C>T, XM_024452193.2:c.123C>T, XM_024452193.1:c.123C>T, XM_047441267.1:c.123C>T

Select item 14641192869.

rs1464119286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:21694804 (GRCh38)
22:22049093 (GRCh37)
Canonical SPDI:: NC_000022.11:21694803:A:C
Gene:: PPIL2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21694804A>C, NC_000022.10:g.22049093A>C, NM_014337.4:c.1319A>C, NM_014337.3:c.1319A>C, XM_011530041.4:c.1319A>C, XM_011530041.3:c.1319A>C, XM_011530041.2:c.1319A>C, XM_011530041.1:c.1319A>C, XM_011530046.4:c.1319A>C, XM_011530046.3:c.1319A>C, XM_011530046.2:c.1319A>C, XM_011530046.1:c.1319A>C, XM_011530043.4:c.1319A>C, XM_011530043.3:c.1319A>C, XM_011530043.2:c.1319A>C, XM_011530043.1:c.1319A>C, NM_148175.3:c.1319A>C, NM_148175.2:c.1319A>C, XM_011530049.3:c.785A>C, XM_011530049.2:c.785A>C, XM_011530049.1:c.785A>C, NM_148176.3:c.1319A>C, NM_148176.2:c.1319A>C, NM_001317996.2:c.1319A>C, NM_001317996.1:c.1319A>C, XM_047441267.1:c.1319A>C, XM_047441268.1:c.785A>C, NP_055152.1:p.Glu440Ala, XP_011528343.1:p.Glu440Ala, XP_011528348.1:p.Glu440Ala, XP_011528345.1:p.Glu440Ala, NP_680480.1:p.Glu440Ala, XP_011528351.1:p.Glu262Ala, NP_680481.1:p.Glu440Ala, NP_001304925.1:p.Glu440Ala, XP_047297223.1:p.Glu440Ala, XP_047297224.1:p.Glu262Ala

Select item 146148276410.

rs1461482764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21695470 (GRCh38)
22:22049759 (GRCh37)
Canonical SPDI:: NC_000022.11:21695469:G:A
Gene:: PPIL2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.21695470G>A, NC_000022.10:g.22049759G>A, NM_014337.4:c.1543G>A, NM_014337.3:c.1543G>A, XM_011530041.4:c.1539G>A, XM_011530041.3:c.1539G>A, XM_011530041.2:c.1539G>A, XM_011530041.1:c.1539G>A, XM_011530046.4:c.1543G>A, XM_011530046.3:c.1543G>A, XM_011530046.2:c.1543G>A, XM_011530046.1:c.1543G>A, XM_011530043.4:c.1539G>A, XM_011530043.3:c.1539G>A, XM_011530043.2:c.1539G>A, XM_011530043.1:c.1539G>A, NM_148175.3:c.1543G>A, NM_148175.2:c.1543G>A, XM_011530049.3:c.1005G>A, XM_011530049.2:c.1005G>A, XM_011530049.1:c.1005G>A, NM_148176.3:c.1539G>A, NM_148176.2:c.1539G>A, NM_001317996.2:c.1543G>A, NM_001317996.1:c.1543G>A, XM_047441267.1:c.1539G>A, XM_047441268.1:c.1005G>A, NP_055152.1:p.Gly515Arg, XP_011528348.1:p.Gly515Arg, NP_680480.1:p.Gly515Arg, NP_001304925.1:p.Gly515Arg

Select item 146020207611.

rs1460202076 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAACCT>- [Show Flanks]
Chromosome:: 22:21686974 (GRCh38)
22:22041263 (GRCh37)
Canonical SPDI:: NC_000022.11:21686969:ACCTCAACCT:ACCT
Gene:: PPIL2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACCT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.21686974_21686979del, NC_000022.10:g.22041263_22041268del, NM_014337.4:c.873_878del, NM_014337.3:c.873_878del, XM_011530041.4:c.873_878del, XM_011530041.3:c.873_878del, XM_011530041.2:c.873_878del, XM_011530041.1:c.873_878del, XM_011530046.4:c.873_878del, XM_011530046.3:c.873_878del, XM_011530046.2:c.873_878del, XM_011530046.1:c.873_878del, XM_011530043.4:c.873_878del, XM_011530043.3:c.873_878del, XM_011530043.2:c.873_878del, XM_011530043.1:c.873_878del, NM_148175.3:c.873_878del, NM_148175.2:c.873_878del, XM_011530049.3:c.339_344del, XM_011530049.2:c.339_344del, XM_011530049.1:c.339_344del, NM_148176.3:c.873_878del, NM_148176.2:c.873_878del, NM_001317996.2:c.873_878del, NM_001317996.1:c.873_878del, XM_024452193.2:c.873_878del, XM_024452193.1:c.873_878del, XM_047441267.1:c.873_878del, XM_047441268.1:c.339_344del, NP_055152.1:p.Asn292_Leu293del, XP_011528343.1:p.Asn292_Leu293del, XP_011528348.1:p.Asn292_Leu293del, XP_011528345.1:p.Asn292_Leu293del, NP_680480.1:p.Asn292_Leu293del, XP_011528351.1:p.Asn114_Leu115del, NP_680481.1:p.Asn292_Leu293del, NP_001304925.1:p.Asn292_Leu293del, XP_024307961.1:p.Asn292_Leu293del, XP_047297223.1:p.Asn292_Leu293del, XP_047297224.1:p.Asn114_Leu115del

Select item 145896231812.

rs1458962318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21671054 (GRCh38)
22:22025343 (GRCh37)
Canonical SPDI:: NC_000022.11:21671053:C:T
Gene:: PPIL2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21671054C>T, NC_000022.10:g.22025343C>T, NM_014337.4:c.186C>T, NM_014337.3:c.186C>T, XM_011530041.4:c.186C>T, XM_011530041.3:c.186C>T, XM_011530041.2:c.186C>T, XM_011530041.1:c.186C>T, XM_011530046.4:c.186C>T, XM_011530046.3:c.186C>T, XM_011530046.2:c.186C>T, XM_011530046.1:c.186C>T, XM_011530043.4:c.186C>T, XM_011530043.3:c.186C>T, XM_011530043.2:c.186C>T, XM_011530043.1:c.186C>T, NM_148175.3:c.186C>T, NM_148175.2:c.186C>T, XM_011530049.3:c.-349C>T, XM_011530049.2:c.-349C>T, XM_011530049.1:c.-349C>T, NM_148176.3:c.186C>T, NM_148176.2:c.186C>T, NM_001317996.2:c.186C>T, NM_001317996.1:c.186C>T, XM_024452193.2:c.186C>T, XM_024452193.1:c.186C>T, XM_047441267.1:c.186C>T

Select item 145778591413.

rs1457785914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21696890 (GRCh38)
22:22051179 (GRCh37)
Canonical SPDI:: NC_000022.11:21696889:C:T
Gene:: PPIL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21696890C>T, NC_000022.10:g.22051179C>T, NM_014337.4:c.*1400C>T, NM_014337.3:c.*1400C>T, XM_011530041.4:c.*738C>T, XM_011530041.3:c.*738C>T, XM_011530041.2:c.*738C>T, XM_011530041.1:c.*738C>T, XM_011530046.4:c.*8C>T, XM_011530046.3:c.*8C>T, XM_011530046.2:c.*8C>T, XM_011530046.1:c.*8C>T, XM_011530043.4:c.1567C>T, XM_011530043.3:c.1567C>T, XM_011530043.2:c.1567C>T, XM_011530043.1:c.1567C>T, NM_148175.3:c.*150C>T, NM_148175.2:c.*150C>T, XM_011530049.3:c.*738C>T, XM_011530049.2:c.*738C>T, XM_011530049.1:c.*738C>T, NM_148176.3:c.1571C>T, NM_148176.2:c.1571C>T, NM_001317996.2:c.*1030C>T, NM_001317996.1:c.*1030C>T, XM_047441267.1:c.*1294C>T, XM_047441268.1:c.*738C>T, NP_680481.1:p.Pro524Leu

Select item 145563451814.

rs1455634518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21695490 (GRCh38)
22:22049779 (GRCh37)
Canonical SPDI:: NC_000022.11:21695489:G:A
Gene:: PPIL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,terminator_codon_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.21695490G>A, NC_000022.10:g.22049779G>A, NM_014337.4:c.1563G>A, NM_014337.3:c.1563G>A, XM_011530041.4:c.1559G>A, XM_011530041.3:c.1559G>A, XM_011530041.2:c.1559G>A, XM_011530041.1:c.1559G>A, XM_011530046.4:c.1563G>A, XM_011530046.3:c.1563G>A, XM_011530046.2:c.1563G>A, XM_011530046.1:c.1563G>A, XM_011530043.4:c.1559G>A, XM_011530043.3:c.1559G>A, XM_011530043.2:c.1559G>A, XM_011530043.1:c.1559G>A, NM_148175.3:c.1563G>A, NM_148175.2:c.1563G>A, XM_011530049.3:c.1025G>A, XM_011530049.2:c.1025G>A, XM_011530049.1:c.1025G>A, NM_148176.3:c.1559G>A, NM_148176.2:c.1559G>A, NM_001317996.2:c.1563G>A, NM_001317996.1:c.1563G>A, XM_047441267.1:c.1559G>A, XM_047441268.1:c.1025G>A, XP_011528343.1:p.Ser520Asn, XP_011528345.1:p.Ser520Asn, XP_011528351.1:p.Ser342Asn, NP_680481.1:p.Ser520Asn, XP_047297223.1:p.Ser520Asn, XP_047297224.1:p.Ser342Asn

Select item 145372635215.

rs1453726352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:21695446 (GRCh38)
22:22049735 (GRCh37)
Canonical SPDI:: NC_000022.11:21695445:A:C
Gene:: PPIL2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.21695446A>C, NC_000022.10:g.22049735A>C, NM_014337.4:c.1519A>C, NM_014337.3:c.1519A>C, XM_011530041.4:c.1515A>C, XM_011530041.3:c.1515A>C, XM_011530041.2:c.1515A>C, XM_011530041.1:c.1515A>C, XM_011530046.4:c.1519A>C, XM_011530046.3:c.1519A>C, XM_011530046.2:c.1519A>C, XM_011530046.1:c.1519A>C, XM_011530043.4:c.1515A>C, XM_011530043.3:c.1515A>C, XM_011530043.2:c.1515A>C, XM_011530043.1:c.1515A>C, NM_148175.3:c.1519A>C, NM_148175.2:c.1519A>C, XM_011530049.3:c.981A>C, XM_011530049.2:c.981A>C, XM_011530049.1:c.981A>C, NM_148176.3:c.1515A>C, NM_148176.2:c.1515A>C, NM_001317996.2:c.1519A>C, NM_001317996.1:c.1519A>C, XM_047441267.1:c.1515A>C, XM_047441268.1:c.981A>C, NP_055152.1:p.Lys507Gln, XP_011528348.1:p.Lys507Gln, NP_680480.1:p.Lys507Gln, NP_001304925.1:p.Lys507Gln

Select item 145167463416.

rs1451674634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21694645 (GRCh38)
22:22048934 (GRCh37)
Canonical SPDI:: NC_000022.11:21694644:C:T
Gene:: PPIL2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21694645C>T, NC_000022.10:g.22048934C>T, NM_014337.4:c.1249C>T, NM_014337.3:c.1249C>T, XM_011530041.4:c.1249C>T, XM_011530041.3:c.1249C>T, XM_011530041.2:c.1249C>T, XM_011530041.1:c.1249C>T, XM_011530046.4:c.1249C>T, XM_011530046.3:c.1249C>T, XM_011530046.2:c.1249C>T, XM_011530046.1:c.1249C>T, XM_011530043.4:c.1249C>T, XM_011530043.3:c.1249C>T, XM_011530043.2:c.1249C>T, XM_011530043.1:c.1249C>T, NM_148175.3:c.1249C>T, NM_148175.2:c.1249C>T, XM_011530049.3:c.715C>T, XM_011530049.2:c.715C>T, XM_011530049.1:c.715C>T, NM_148176.3:c.1249C>T, NM_148176.2:c.1249C>T, NM_001317996.2:c.1249C>T, NM_001317996.1:c.1249C>T, XM_047441267.1:c.1249C>T, XM_047441268.1:c.715C>T, NP_055152.1:p.Pro417Ser, XP_011528343.1:p.Pro417Ser, XP_011528348.1:p.Pro417Ser, XP_011528345.1:p.Pro417Ser, NP_680480.1:p.Pro417Ser, XP_011528351.1:p.Pro239Ser, NP_680481.1:p.Pro417Ser, NP_001304925.1:p.Pro417Ser, XP_047297223.1:p.Pro417Ser, XP_047297224.1:p.Pro239Ser

Select item 145107099417.

rs1451070994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:21693842 (GRCh38)
22:22048131 (GRCh37)
Canonical SPDI:: NC_000022.11:21693841:A:G
Gene:: PPIL2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.21693842A>G, NC_000022.10:g.22048131A>G, NM_014337.4:c.1166A>G, NM_014337.3:c.1166A>G, XM_011530041.4:c.1166A>G, XM_011530041.3:c.1166A>G, XM_011530041.2:c.1166A>G, XM_011530041.1:c.1166A>G, XM_011530046.4:c.1166A>G, XM_011530046.3:c.1166A>G, XM_011530046.2:c.1166A>G, XM_011530046.1:c.1166A>G, XM_011530043.4:c.1166A>G, XM_011530043.3:c.1166A>G, XM_011530043.2:c.1166A>G, XM_011530043.1:c.1166A>G, NM_148175.3:c.1166A>G, NM_148175.2:c.1166A>G, XM_011530049.3:c.632A>G, XM_011530049.2:c.632A>G, XM_011530049.1:c.632A>G, NM_148176.3:c.1166A>G, NM_148176.2:c.1166A>G, NM_001317996.2:c.1166A>G, NM_001317996.1:c.1166A>G, XM_047441267.1:c.1166A>G, XM_047441268.1:c.632A>G, NP_055152.1:p.Tyr389Cys, XP_011528343.1:p.Tyr389Cys, XP_011528348.1:p.Tyr389Cys, XP_011528345.1:p.Tyr389Cys, NP_680480.1:p.Tyr389Cys, XP_011528351.1:p.Tyr211Cys, NP_680481.1:p.Tyr389Cys, NP_001304925.1:p.Tyr389Cys, XP_047297223.1:p.Tyr389Cys, XP_047297224.1:p.Tyr211Cys

Select item 144393351118.

rs1443933511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:21687663 (GRCh38)
22:22041952 (GRCh37)
Canonical SPDI:: NC_000022.11:21687662:C:G
Gene:: PPIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.21687663C>G, NC_000022.10:g.22041952C>G, NM_014337.4:c.918C>G, NM_014337.3:c.918C>G, XM_011530041.4:c.918C>G, XM_011530041.3:c.918C>G, XM_011530041.2:c.918C>G, XM_011530041.1:c.918C>G, XM_011530046.4:c.918C>G, XM_011530046.3:c.918C>G, XM_011530046.2:c.918C>G, XM_011530046.1:c.918C>G, XM_011530043.4:c.918C>G, XM_011530043.3:c.918C>G, XM_011530043.2:c.918C>G, XM_011530043.1:c.918C>G, NM_148175.3:c.918C>G, NM_148175.2:c.918C>G, XM_011530049.3:c.384C>G, XM_011530049.2:c.384C>G, XM_011530049.1:c.384C>G, NM_148176.3:c.918C>G, NM_148176.2:c.918C>G, NM_001317996.2:c.918C>G, NM_001317996.1:c.918C>G, XM_024452193.2:c.918C>G, XM_024452193.1:c.918C>G, XM_047441267.1:c.918C>G, XM_047441268.1:c.384C>G, NP_055152.1:p.Asn306Lys, XP_011528343.1:p.Asn306Lys, XP_011528348.1:p.Asn306Lys, XP_011528345.1:p.Asn306Lys, NP_680480.1:p.Asn306Lys, XP_011528351.1:p.Asn128Lys, NP_680481.1:p.Asn306Lys, NP_001304925.1:p.Asn306Lys, XP_024307961.1:p.Asn306Lys, XP_047297223.1:p.Asn306Lys, XP_047297224.1:p.Asn128Lys

Select item 144120482119.

rs1441204821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:21694595 (GRCh38)
22:22048884 (GRCh37)
Canonical SPDI:: NC_000022.11:21694594:T:C
Gene:: PPIL2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.21694595T>C, NC_000022.10:g.22048884T>C, NM_014337.4:c.1199T>C, NM_014337.3:c.1199T>C, XM_011530041.4:c.1199T>C, XM_011530041.3:c.1199T>C, XM_011530041.2:c.1199T>C, XM_011530041.1:c.1199T>C, XM_011530046.4:c.1199T>C, XM_011530046.3:c.1199T>C, XM_011530046.2:c.1199T>C, XM_011530046.1:c.1199T>C, XM_011530043.4:c.1199T>C, XM_011530043.3:c.1199T>C, XM_011530043.2:c.1199T>C, XM_011530043.1:c.1199T>C, NM_148175.3:c.1199T>C, NM_148175.2:c.1199T>C, XM_011530049.3:c.665T>C, XM_011530049.2:c.665T>C, XM_011530049.1:c.665T>C, NM_148176.3:c.1199T>C, NM_148176.2:c.1199T>C, NM_001317996.2:c.1199T>C, NM_001317996.1:c.1199T>C, XM_047441267.1:c.1199T>C, XM_047441268.1:c.665T>C, NP_055152.1:p.Val400Ala, XP_011528343.1:p.Val400Ala, XP_011528348.1:p.Val400Ala, XP_011528345.1:p.Val400Ala, NP_680480.1:p.Val400Ala, XP_011528351.1:p.Val222Ala, NP_680481.1:p.Val400Ala, NP_001304925.1:p.Val400Ala, XP_047297223.1:p.Val400Ala, XP_047297224.1:p.Val222Ala

Select item 144086339720.

rs1440863397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:21672334 (GRCh38)
22:22026623 (GRCh37)
Canonical SPDI:: NC_000022.11:21672333:A:G
Gene:: PPIL2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.21672334A>G, NC_000022.10:g.22026623A>G, NM_014337.4:c.196A>G, NM_014337.3:c.196A>G, XM_011530041.4:c.196A>G, XM_011530041.3:c.196A>G, XM_011530041.2:c.196A>G, XM_011530041.1:c.196A>G, XM_011530046.4:c.196A>G, XM_011530046.3:c.196A>G, XM_011530046.2:c.196A>G, XM_011530046.1:c.196A>G, XM_011530043.4:c.196A>G, XM_011530043.3:c.196A>G, XM_011530043.2:c.196A>G, XM_011530043.1:c.196A>G, NM_148175.3:c.196A>G, NM_148175.2:c.196A>G, XM_011530049.3:c.-339A>G, XM_011530049.2:c.-339A>G, XM_011530049.1:c.-339A>G, NM_148176.3:c.196A>G, NM_148176.2:c.196A>G, NM_001317996.2:c.196A>G, NM_001317996.1:c.196A>G, XM_024452193.2:c.196A>G, XM_024452193.1:c.196A>G, XM_047441267.1:c.196A>G, XM_047441268.1:c.-287A>G, NP_055152.1:p.Ile66Val, XP_011528343.1:p.Ile66Val, XP_011528348.1:p.Ile66Val, XP_011528345.1:p.Ile66Val, NP_680480.1:p.Ile66Val, NP_680481.1:p.Ile66Val, NP_001304925.1:p.Ile66Val, XP_024307961.1:p.Ile66Val, XP_047297223.1:p.Ile66Val

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