SNP Links for Nucleotide (Select 1212617247) - SNP

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Select item 14872499981.

rs1487249998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:18928864 (GRCh38)
17:18832177 (GRCh37)
Canonical SPDI:: NC_000017.11:18928863:G:A,NC_000017.11:18928863:G:T
Gene:: PRPSAP2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.00006/1 (TOMMO)
HGVS:: NC_000017.11:g.18928864G>A, NC_000017.11:g.18928864G>T, NC_000017.10:g.18832177G>A, NC_000017.10:g.18832177G>T, NM_002767.4:c.858G>A, NM_002767.4:c.858G>T, NM_002767.3:c.858G>A, NM_002767.3:c.858G>T, NM_001353100.2:c.600G>A, NM_001353100.2:c.600G>T, NM_001353100.1:c.600G>A, NM_001353100.1:c.600G>T, NM_001353099.2:c.723G>A, NM_001353099.2:c.723G>T, NM_001353099.1:c.723G>A, NM_001353099.1:c.723G>T, NM_001353106.2:c.858G>A, NM_001353106.2:c.858G>T, NM_001353106.1:c.858G>A, NM_001353106.1:c.858G>T, NM_001353097.2:c.723G>A, NM_001353097.2:c.723G>T, NM_001353097.1:c.723G>A, NM_001353097.1:c.723G>T, NM_001353102.2:c.858G>A, NM_001353102.2:c.858G>T, NM_001353102.1:c.858G>A, NM_001353102.1:c.858G>T, NM_001353098.2:c.1020G>A, NM_001353098.2:c.1020G>T, NM_001353098.1:c.1020G>A, NM_001353098.1:c.1020G>T, NM_001353101.2:c.858G>A, NM_001353101.2:c.858G>T, NM_001353101.1:c.858G>A, NM_001353101.1:c.858G>T, NM_001353107.2:c.858G>A, NM_001353107.2:c.858G>T, NM_001353107.1:c.858G>A, NM_001353107.1:c.858G>T, NM_001353105.2:c.858G>A, NM_001353105.2:c.858G>T, NM_001353105.1:c.858G>A, NM_001353105.1:c.858G>T, NM_001353103.2:c.600G>A, NM_001353103.2:c.600G>T, NM_001353103.1:c.600G>A, NM_001353103.1:c.600G>T, NM_001243936.2:c.738G>A, NM_001243936.2:c.738G>T, NM_001243936.1:c.738G>A, NM_001243936.1:c.738G>T, NM_001353104.2:c.600G>A, NM_001353104.2:c.600G>T, NM_001353104.1:c.600G>A, NM_001353104.1:c.600G>T, NM_001353096.1:c.723G>A, NM_001353096.1:c.723G>T, XM_047436415.1:c.1005G>A, XM_047436415.1:c.1005G>T, NM_001243942.1:c.600G>A, NM_001243942.1:c.600G>T, NM_001243941.1:c.600G>A, NM_001243941.1:c.600G>T, XM_047436417.1:c.*49G>A, XM_047436417.1:c.*49G>T, NP_002758.1:p.Lys286Asn, NP_001340029.1:p.Lys200Asn, NP_001340028.1:p.Lys241Asn, NP_001340035.1:p.Lys286Asn, NP_001340026.1:p.Lys241Asn, NP_001340031.1:p.Lys286Asn, NP_001340027.1:p.Lys340Asn, NP_001340030.1:p.Lys286Asn, NP_001340036.1:p.Lys286Asn, NP_001340034.1:p.Lys286Asn, NP_001340032.1:p.Lys200Asn, NP_001230865.1:p.Lys246Asn, NP_001340033.1:p.Lys200Asn, NP_001340025.1:p.Lys241Asn, XP_047292371.1:p.Lys335Asn, NP_001230871.1:p.Lys200Asn, NP_001230870.1:p.Lys200Asn

Select item 14870042042.

rs1487004204 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AACTTTGTGTTTTGGCAATCGTTTTATAACTAAAATAAAAT
Chromosome:: no mapping
Canonical SPDI:

Select item 14851533423.

rs1485153342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18867284 (GRCh38)
17:18770597 (GRCh37)
Canonical SPDI:: NC_000017.11:18867283:G:A
Gene:: PRPSAP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18867284G>A, NC_000017.10:g.18770597G>A, NM_002767.4:c.122G>A, NM_002767.3:c.122G>A, NM_001353099.2:c.-14G>A, NM_001353099.1:c.-14G>A, NM_001353106.2:c.122G>A, NM_001353106.1:c.122G>A, NM_001353097.2:c.-14G>A, NM_001353097.1:c.-14G>A, NM_001353102.2:c.122G>A, NM_001353102.1:c.122G>A, NM_001353098.2:c.284G>A, NM_001353098.1:c.284G>A, NM_001353101.2:c.122G>A, NM_001353101.1:c.122G>A, NM_001353107.2:c.122G>A, NM_001353107.1:c.122G>A, NM_001353105.2:c.122G>A, NM_001353105.1:c.122G>A, NM_001353096.1:c.-14G>A, XM_047436415.1:c.269G>A, NM_001243940.1:c.122G>A, XM_047436417.1:c.122G>A, XM_047436416.1:c.122G>A, NP_002758.1:p.Arg41Gln, NP_001340035.1:p.Arg41Gln, NP_001340031.1:p.Arg41Gln, NP_001340027.1:p.Arg95Gln, NP_001340030.1:p.Arg41Gln, NP_001340036.1:p.Arg41Gln, NP_001340034.1:p.Arg41Gln, XP_047292371.1:p.Arg90Gln, NP_001230869.1:p.Arg41Gln, XP_047292373.1:p.Arg41Gln, XP_047292372.1:p.Arg41Gln

Select item 14850392454.

rs1485039245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:18930722 (GRCh38)
17:18834035 (GRCh37)
Canonical SPDI:: NC_000017.11:18930721:A:C
Gene:: PRPSAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18930722A>C, NC_000017.10:g.18834035A>C, NM_002767.4:c.*24A>C, NM_002767.3:c.*24A>C, NM_001353100.2:c.*24A>C, NM_001353100.1:c.*24A>C, NM_001353099.2:c.*24A>C, NM_001353099.1:c.*24A>C, NM_001353106.2:c.*24A>C, NM_001353106.1:c.*24A>C, NM_001353097.2:c.*24A>C, NM_001353097.1:c.*24A>C, NM_001353102.2:c.*24A>C, NM_001353102.1:c.*24A>C, NM_001353098.2:c.*24A>C, NM_001353098.1:c.*24A>C, NM_001353101.2:c.*24A>C, NM_001353101.1:c.*24A>C, NM_001353107.2:c.*24A>C, NM_001353107.1:c.*24A>C, NM_001353105.2:c.*24A>C, NM_001353105.1:c.*24A>C, NM_001353103.2:c.*24A>C, NM_001353103.1:c.*24A>C, NM_001243936.2:c.*24A>C, NM_001243936.1:c.*24A>C, NM_001353104.2:c.*24A>C, NM_001353104.1:c.*24A>C, NM_001353096.1:c.*24A>C, XM_047436415.1:c.*24A>C, NM_001243942.1:c.*24A>C, NM_001243941.1:c.*24A>C, NM_001243940.1:c.*24A>C

Select item 14840711025.

rs1484071102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18865537 (GRCh38)
17:18768850 (GRCh37)
Canonical SPDI:: NC_000017.11:18865536:C:T
Gene:: PRPSAP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.18865537C>T, NC_000017.10:g.18768850C>T, NM_002767.4:c.-60C>T, NM_002767.3:c.-60C>T, NM_001353100.2:c.-265C>T, NM_001353100.1:c.-265C>T, NM_001353099.2:c.-220C>T, NM_001353099.1:c.-220C>T, NM_001353106.2:c.-60C>T, NM_001353106.1:c.-60C>T, NM_001353097.2:c.-220C>T, NM_001353097.1:c.-220C>T, NM_001353102.2:c.-60C>T, NM_001353102.1:c.-60C>T, NM_001243936.2:c.-60C>T, NM_001243936.1:c.-60C>T, NM_001353096.1:c.-220C>T, NM_001243942.1:c.-265C>T, NM_001243940.1:c.-60C>T

Select item 14840073726.

rs1484007372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:18865948 (GRCh38)
17:18769261 (GRCh37)
Canonical SPDI:: NC_000017.11:18865947:G:T
Gene:: PRPSAP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,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)
HGVS:: NC_000017.11:g.18865948G>T, NC_000017.10:g.18769261G>T, NM_002767.4:c.115G>T, NM_002767.3:c.115G>T, NM_001353100.2:c.-91G>T, NM_001353100.1:c.-91G>T, NM_001353099.2:c.-46G>T, NM_001353099.1:c.-46G>T, NM_001353106.2:c.115G>T, NM_001353106.1:c.115G>T, NM_001353097.2:c.-46G>T, NM_001353097.1:c.-46G>T, NM_001353102.2:c.115G>T, NM_001353102.1:c.115G>T, NM_001353098.2:c.277G>T, NM_001353098.1:c.277G>T, NM_001353101.2:c.115G>T, NM_001353101.1:c.115G>T, NM_001353107.2:c.115G>T, NM_001353107.1:c.115G>T, NM_001353105.2:c.115G>T, NM_001353105.1:c.115G>T, NM_001353103.2:c.-91G>T, NM_001353103.1:c.-91G>T, NM_001243936.2:c.115G>T, NM_001243936.1:c.115G>T, NM_001353104.2:c.-91G>T, NM_001353104.1:c.-91G>T, NM_001353096.1:c.-46G>T, XM_047436415.1:c.262G>T, NM_001243942.1:c.-91G>T, NM_001243941.1:c.-91G>T, NM_001243940.1:c.115G>T, XM_047436417.1:c.115G>T, XM_047436416.1:c.115G>T, NP_002758.1:p.Ala39Ser, NP_001340035.1:p.Ala39Ser, NP_001340031.1:p.Ala39Ser, NP_001340027.1:p.Ala93Ser, NP_001340030.1:p.Ala39Ser, NP_001340036.1:p.Ala39Ser, NP_001340034.1:p.Ala39Ser, NP_001230865.1:p.Ala39Ser, XP_047292371.1:p.Ala88Ser, NP_001230869.1:p.Ala39Ser, XP_047292373.1:p.Ala39Ser, XP_047292372.1:p.Ala39Ser

Select item 14805502627.

rs1480550262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18882591 (GRCh38)
17:18785904 (GRCh37)
Canonical SPDI:: NC_000017.11:18882590:G:A
Gene:: PRPSAP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18882591G>A, NC_000017.10:g.18785904G>A, NM_002767.4:c.436G>A, NM_002767.3:c.436G>A, NM_001353100.2:c.178G>A, NM_001353100.1:c.178G>A, NM_001353099.2:c.301G>A, NM_001353099.1:c.301G>A, NM_001353106.2:c.436G>A, NM_001353106.1:c.436G>A, NM_001353097.2:c.301G>A, NM_001353097.1:c.301G>A, NM_001353102.2:c.436G>A, NM_001353102.1:c.436G>A, NM_001353098.2:c.598G>A, NM_001353098.1:c.598G>A, NM_001353101.2:c.436G>A, NM_001353101.1:c.436G>A, NM_001353107.2:c.436G>A, NM_001353107.1:c.436G>A, NM_001353105.2:c.436G>A, NM_001353105.1:c.436G>A, NM_001353103.2:c.178G>A, NM_001353103.1:c.178G>A, NM_001243936.2:c.316G>A, NM_001243936.1:c.316G>A, NM_001353104.2:c.178G>A, NM_001353104.1:c.178G>A, NM_001353096.1:c.301G>A, XM_047436415.1:c.583G>A, NM_001243942.1:c.178G>A, NM_001243941.1:c.178G>A, NM_001243940.1:c.436G>A, XM_047436417.1:c.436G>A, XM_047436416.1:c.436G>A, NP_002758.1:p.Asp146Asn, NP_001340029.1:p.Asp60Asn, NP_001340028.1:p.Asp101Asn, NP_001340035.1:p.Asp146Asn, NP_001340026.1:p.Asp101Asn, NP_001340031.1:p.Asp146Asn, NP_001340027.1:p.Asp200Asn, NP_001340030.1:p.Asp146Asn, NP_001340036.1:p.Asp146Asn, NP_001340034.1:p.Asp146Asn, NP_001340032.1:p.Asp60Asn, NP_001230865.1:p.Asp106Asn, NP_001340033.1:p.Asp60Asn, NP_001340025.1:p.Asp101Asn, XP_047292371.1:p.Asp195Asn, NP_001230871.1:p.Asp60Asn, NP_001230870.1:p.Asp60Asn, NP_001230869.1:p.Asp146Asn, XP_047292373.1:p.Asp146Asn, XP_047292372.1:p.Asp146Asn

Select item 14789662528.

rs1478966252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18877722 (GRCh38)
17:18781035 (GRCh37)
Canonical SPDI:: NC_000017.11:18877721:G:A
Gene:: PRPSAP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.18877722G>A, NC_000017.10:g.18781035G>A, NM_002767.4:c.264G>A, NM_002767.3:c.264G>A, NM_001353100.2:c.6G>A, NM_001353100.1:c.6G>A, NM_001353099.2:c.129G>A, NM_001353099.1:c.129G>A, NM_001353106.2:c.264G>A, NM_001353106.1:c.264G>A, NM_001353097.2:c.129G>A, NM_001353097.1:c.129G>A, NM_001353102.2:c.264G>A, NM_001353102.1:c.264G>A, NM_001353098.2:c.426G>A, NM_001353098.1:c.426G>A, NM_001353101.2:c.264G>A, NM_001353101.1:c.264G>A, NM_001353107.2:c.264G>A, NM_001353107.1:c.264G>A, NM_001353105.2:c.264G>A, NM_001353105.1:c.264G>A, NM_001353103.2:c.6G>A, NM_001353103.1:c.6G>A, NM_001243936.2:c.144G>A, NM_001243936.1:c.144G>A, NM_001353104.2:c.6G>A, NM_001353104.1:c.6G>A, NM_001353096.1:c.129G>A, XM_047436415.1:c.411G>A, NM_001243942.1:c.6G>A, NM_001243941.1:c.6G>A, NM_001243940.1:c.264G>A, XM_047436417.1:c.264G>A, XM_047436416.1:c.264G>A

Select item 14776583519.

rs1477658351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:18867268 (GRCh38)
17:18770581 (GRCh37)
Canonical SPDI:: NC_000017.11:18867267:T:A
Gene:: PRPSAP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18867268T>A, NC_000017.10:g.18770581T>A, NM_001353099.2:c.-30T>A, NM_001353099.1:c.-30T>A, NM_001353097.2:c.-30T>A, NM_001353097.1:c.-30T>A, NM_001353096.1:c.-30T>A

Select item 147746849210.

rs1477468492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18930779 (GRCh38)
17:18834092 (GRCh37)
Canonical SPDI:: NC_000017.11:18930778:G:A
Gene:: PRPSAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.18930779G>A, NC_000017.10:g.18834092G>A, NM_002767.4:c.*81G>A, NM_002767.3:c.*81G>A, NM_001353100.2:c.*81G>A, NM_001353100.1:c.*81G>A, NM_001353099.2:c.*81G>A, NM_001353099.1:c.*81G>A, NM_001353106.2:c.*81G>A, NM_001353106.1:c.*81G>A, NM_001353097.2:c.*81G>A, NM_001353097.1:c.*81G>A, NM_001353102.2:c.*81G>A, NM_001353102.1:c.*81G>A, NM_001353098.2:c.*81G>A, NM_001353098.1:c.*81G>A, NM_001353101.2:c.*81G>A, NM_001353101.1:c.*81G>A, NM_001353107.2:c.*81G>A, NM_001353107.1:c.*81G>A, NM_001353105.2:c.*81G>A, NM_001353105.1:c.*81G>A, NM_001353103.2:c.*81G>A, NM_001353103.1:c.*81G>A, NM_001243936.2:c.*81G>A, NM_001243936.1:c.*81G>A, NM_001353104.2:c.*81G>A, NM_001353104.1:c.*81G>A, NM_001353096.1:c.*81G>A, XM_047436415.1:c.*81G>A, NM_001243942.1:c.*81G>A, NM_001243941.1:c.*81G>A, NM_001243940.1:c.*81G>A

Select item 147577380511.

rs1475773805 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:18877851 (GRCh38)
17:18781164 (GRCh37)
Canonical SPDI:: NC_000017.11:18877850:T:C
Gene:: PRPSAP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18877851T>C, NC_000017.10:g.18781164T>C, NM_002767.4:c.393T>C, NM_002767.3:c.393T>C, NM_001353100.2:c.135T>C, NM_001353100.1:c.135T>C, NM_001353099.2:c.258T>C, NM_001353099.1:c.258T>C, NM_001353106.2:c.393T>C, NM_001353106.1:c.393T>C, NM_001353097.2:c.258T>C, NM_001353097.1:c.258T>C, NM_001353102.2:c.393T>C, NM_001353102.1:c.393T>C, NM_001353098.2:c.555T>C, NM_001353098.1:c.555T>C, NM_001353101.2:c.393T>C, NM_001353101.1:c.393T>C, NM_001353107.2:c.393T>C, NM_001353107.1:c.393T>C, NM_001353105.2:c.393T>C, NM_001353105.1:c.393T>C, NM_001353103.2:c.135T>C, NM_001353103.1:c.135T>C, NM_001243936.2:c.273T>C, NM_001243936.1:c.273T>C, NM_001353104.2:c.135T>C, NM_001353104.1:c.135T>C, NM_001353096.1:c.258T>C, XM_047436415.1:c.540T>C, NM_001243942.1:c.135T>C, NM_001243941.1:c.135T>C, NM_001243940.1:c.393T>C, XM_047436417.1:c.393T>C, XM_047436416.1:c.393T>C

Select item 147541189012.

rs1475411890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:18931107 (GRCh38)
17:18834420 (GRCh37)
Canonical SPDI:: NC_000017.11:18931106:T:C
Gene:: PRPSAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18931107T>C, NC_000017.10:g.18834420T>C, NM_002767.4:c.*409T>C, NM_002767.3:c.*409T>C, NM_001353100.2:c.*409T>C, NM_001353100.1:c.*409T>C, NM_001353099.2:c.*409T>C, NM_001353099.1:c.*409T>C, NM_001353106.2:c.*409T>C, NM_001353106.1:c.*409T>C, NM_001353097.2:c.*409T>C, NM_001353097.1:c.*409T>C, NM_001353102.2:c.*409T>C, NM_001353102.1:c.*409T>C, NM_001353098.2:c.*409T>C, NM_001353098.1:c.*409T>C, NM_001353101.2:c.*409T>C, NM_001353101.1:c.*409T>C, NM_001353107.2:c.*409T>C, NM_001353107.1:c.*409T>C, NM_001353105.2:c.*409T>C, NM_001353105.1:c.*409T>C, NM_001353103.2:c.*409T>C, NM_001353103.1:c.*409T>C, NM_001243936.2:c.*409T>C, NM_001243936.1:c.*409T>C, NM_001353104.2:c.*409T>C, NM_001353104.1:c.*409T>C, NM_001353096.1:c.*409T>C, XM_047436415.1:c.*409T>C, NM_001243942.1:c.*409T>C, NM_001243941.1:c.*409T>C, NM_001243940.1:c.*409T>C

Select item 147024116113.

rs1470241161 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:18865932 (GRCh38)
17:18769246 (GRCh37)
Canonical SPDI:: NC_000017.11:18865932:C:CC
Gene:: PRPSAP2 (Varview)
Functional Consequence:: frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18865933dup, NC_000017.10:g.18769246dup, NM_002767.4:c.100dup, NM_002767.3:c.100dup, NM_001353100.2:c.-106dup, NM_001353100.1:c.-106dup, NM_001353099.2:c.-61dup, NM_001353099.1:c.-61dup, NM_001353106.2:c.100dup, NM_001353106.1:c.100dup, NM_001353097.2:c.-61dup, NM_001353097.1:c.-61dup, NM_001353102.2:c.100dup, NM_001353102.1:c.100dup, NM_001353098.2:c.262dup, NM_001353098.1:c.262dup, NM_001353101.2:c.100dup, NM_001353101.1:c.100dup, NM_001353107.2:c.100dup, NM_001353107.1:c.100dup, NM_001353105.2:c.100dup, NM_001353105.1:c.100dup, NM_001353103.2:c.-106dup, NM_001353103.1:c.-106dup, NM_001243936.2:c.100dup, NM_001243936.1:c.100dup, NM_001353104.2:c.-106dup, NM_001353104.1:c.-106dup, NM_001353096.1:c.-61dup, XM_047436415.1:c.247dup, NM_001243942.1:c.-106dup, NM_001243941.1:c.-106dup, NM_001243940.1:c.100dup, XM_047436417.1:c.100dup, XM_047436416.1:c.100dup, NP_002758.1:p.Leu34fs, NP_001340035.1:p.Leu34fs, NP_001340031.1:p.Leu34fs, NP_001340027.1:p.Leu88fs, NP_001340030.1:p.Leu34fs, NP_001340036.1:p.Leu34fs, NP_001340034.1:p.Leu34fs, NP_001230865.1:p.Leu34fs, XP_047292371.1:p.Leu83fs, NP_001230869.1:p.Leu34fs, XP_047292373.1:p.Leu34fs, XP_047292372.1:p.Leu34fs

Select item 147019719614.

rs1470197196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18865933 (GRCh38)
17:18769246 (GRCh37)
Canonical SPDI:: NC_000017.11:18865932:C:T
Gene:: PRPSAP2 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000017.11:g.18865933C>T, NC_000017.10:g.18769246C>T, NM_002767.4:c.100C>T, NM_002767.3:c.100C>T, NM_001353100.2:c.-106C>T, NM_001353100.1:c.-106C>T, NM_001353099.2:c.-61C>T, NM_001353099.1:c.-61C>T, NM_001353106.2:c.100C>T, NM_001353106.1:c.100C>T, NM_001353097.2:c.-61C>T, NM_001353097.1:c.-61C>T, NM_001353102.2:c.100C>T, NM_001353102.1:c.100C>T, NM_001353098.2:c.262C>T, NM_001353098.1:c.262C>T, NM_001353101.2:c.100C>T, NM_001353101.1:c.100C>T, NM_001353107.2:c.100C>T, NM_001353107.1:c.100C>T, NM_001353105.2:c.100C>T, NM_001353105.1:c.100C>T, NM_001353103.2:c.-106C>T, NM_001353103.1:c.-106C>T, NM_001243936.2:c.100C>T, NM_001243936.1:c.100C>T, NM_001353104.2:c.-106C>T, NM_001353104.1:c.-106C>T, NM_001353096.1:c.-61C>T, XM_047436415.1:c.247C>T, NM_001243942.1:c.-106C>T, NM_001243941.1:c.-106C>T, NM_001243940.1:c.100C>T, XM_047436417.1:c.100C>T, XM_047436416.1:c.100C>T

Select item 146846708515.

rs1468467085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18867302 (GRCh38)
17:18770615 (GRCh37)
Canonical SPDI:: NC_000017.11:18867301:G:A
Gene:: PRPSAP2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18867302G>A, NC_000017.10:g.18770615G>A, NM_002767.4:c.140G>A, NM_002767.3:c.140G>A, NM_001353099.2:c.5G>A, NM_001353099.1:c.5G>A, NM_001353106.2:c.140G>A, NM_001353106.1:c.140G>A, NM_001353097.2:c.5G>A, NM_001353097.1:c.5G>A, NM_001353102.2:c.140G>A, NM_001353102.1:c.140G>A, NM_001353098.2:c.302G>A, NM_001353098.1:c.302G>A, NM_001353101.2:c.140G>A, NM_001353101.1:c.140G>A, NM_001353107.2:c.140G>A, NM_001353107.1:c.140G>A, NM_001353105.2:c.140G>A, NM_001353105.1:c.140G>A, NM_001353096.1:c.5G>A, XM_047436415.1:c.287G>A, NM_001243940.1:c.140G>A, XM_047436417.1:c.140G>A, XM_047436416.1:c.140G>A, NP_002758.1:p.Gly47Asp, NP_001340028.1:p.Gly2Asp, NP_001340035.1:p.Gly47Asp, NP_001340026.1:p.Gly2Asp, NP_001340031.1:p.Gly47Asp, NP_001340027.1:p.Gly101Asp, NP_001340030.1:p.Gly47Asp, NP_001340036.1:p.Gly47Asp, NP_001340034.1:p.Gly47Asp, NP_001340025.1:p.Gly2Asp, XP_047292371.1:p.Gly96Asp, NP_001230869.1:p.Gly47Asp, XP_047292373.1:p.Gly47Asp, XP_047292372.1:p.Gly47Asp

Select item 146607329816.

rs1466073298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:18928885 (GRCh38)
17:18832198 (GRCh37)
Canonical SPDI:: NC_000017.11:18928884:C:A
Gene:: PRPSAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.18928885C>A, NC_000017.10:g.18832198C>A, NM_002767.4:c.879C>A, NM_002767.3:c.879C>A, NM_001353100.2:c.621C>A, NM_001353100.1:c.621C>A, NM_001353099.2:c.744C>A, NM_001353099.1:c.744C>A, NM_001353106.2:c.879C>A, NM_001353106.1:c.879C>A, NM_001353097.2:c.744C>A, NM_001353097.1:c.744C>A, NM_001353102.2:c.879C>A, NM_001353102.1:c.879C>A, NM_001353098.2:c.1041C>A, NM_001353098.1:c.1041C>A, NM_001353101.2:c.879C>A, NM_001353101.1:c.879C>A, NM_001353107.2:c.879C>A, NM_001353107.1:c.879C>A, NM_001353105.2:c.879C>A, NM_001353105.1:c.879C>A, NM_001353103.2:c.621C>A, NM_001353103.1:c.621C>A, NM_001243936.2:c.759C>A, NM_001243936.1:c.759C>A, NM_001353104.2:c.621C>A, NM_001353104.1:c.621C>A, NM_001353096.1:c.744C>A, XM_047436415.1:c.1026C>A, NM_001243942.1:c.621C>A, NM_001243941.1:c.621C>A, XM_047436417.1:c.*70C>A

Select item 146536884217.

rs1465368842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:18882640 (GRCh38)
17:18785953 (GRCh37)
Canonical SPDI:: NC_000017.11:18882639:A:G
Gene:: PRPSAP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.18882640A>G, NC_000017.10:g.18785953A>G, NM_002767.4:c.485A>G, NM_002767.3:c.485A>G, NM_001353100.2:c.227A>G, NM_001353100.1:c.227A>G, NM_001353099.2:c.350A>G, NM_001353099.1:c.350A>G, NM_001353106.2:c.485A>G, NM_001353106.1:c.485A>G, NM_001353097.2:c.350A>G, NM_001353097.1:c.350A>G, NM_001353102.2:c.485A>G, NM_001353102.1:c.485A>G, NM_001353098.2:c.647A>G, NM_001353098.1:c.647A>G, NM_001353101.2:c.485A>G, NM_001353101.1:c.485A>G, NM_001353107.2:c.485A>G, NM_001353107.1:c.485A>G, NM_001353105.2:c.485A>G, NM_001353105.1:c.485A>G, NM_001353103.2:c.227A>G, NM_001353103.1:c.227A>G, NM_001243936.2:c.365A>G, NM_001243936.1:c.365A>G, NM_001353104.2:c.227A>G, NM_001353104.1:c.227A>G, NM_001353096.1:c.350A>G, XM_047436415.1:c.632A>G, NM_001243942.1:c.227A>G, NM_001243941.1:c.227A>G, NM_001243940.1:c.485A>G, XM_047436417.1:c.485A>G, XM_047436416.1:c.485A>G, NP_002758.1:p.Asn162Ser, NP_001340029.1:p.Asn76Ser, NP_001340028.1:p.Asn117Ser, NP_001340035.1:p.Asn162Ser, NP_001340026.1:p.Asn117Ser, NP_001340031.1:p.Asn162Ser, NP_001340027.1:p.Asn216Ser, NP_001340030.1:p.Asn162Ser, NP_001340036.1:p.Asn162Ser, NP_001340034.1:p.Asn162Ser, NP_001340032.1:p.Asn76Ser, NP_001230865.1:p.Asn122Ser, NP_001340033.1:p.Asn76Ser, NP_001340025.1:p.Asn117Ser, XP_047292371.1:p.Asn211Ser, NP_001230871.1:p.Asn76Ser, NP_001230870.1:p.Asn76Ser, NP_001230869.1:p.Asn162Ser, XP_047292373.1:p.Asn162Ser, XP_047292372.1:p.Asn162Ser

Select item 146267565518.

rs1462675655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18930656 (GRCh38)
17:18833969 (GRCh37)
Canonical SPDI:: NC_000017.11:18930655:G:A
Gene:: PRPSAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000028/7 (GnomAD_exomes)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.18930656G>A, NC_000017.10:g.18833969G>A, NM_002767.4:c.1068G>A, NM_002767.3:c.1068G>A, NM_001353100.2:c.810G>A, NM_001353100.1:c.810G>A, NM_001353099.2:c.933G>A, NM_001353099.1:c.933G>A, NM_001353106.2:c.1068G>A, NM_001353106.1:c.1068G>A, NM_001353097.2:c.933G>A, NM_001353097.1:c.933G>A, NM_001353102.2:c.1068G>A, NM_001353102.1:c.1068G>A, NM_001353098.2:c.1230G>A, NM_001353098.1:c.1230G>A, NM_001353101.2:c.1068G>A, NM_001353101.1:c.1068G>A, NM_001353107.2:c.1068G>A, NM_001353107.1:c.1068G>A, NM_001353105.2:c.1068G>A, NM_001353105.1:c.1068G>A, NM_001353103.2:c.810G>A, NM_001353103.1:c.810G>A, NM_001243936.2:c.948G>A, NM_001243936.1:c.948G>A, NM_001353104.2:c.810G>A, NM_001353104.1:c.810G>A, NM_001353096.1:c.933G>A, XM_047436415.1:c.1215G>A, NM_001243942.1:c.810G>A, NM_001243941.1:c.810G>A, NM_001243940.1:c.921G>A

Select item 145514697719.

rs1455146977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:18865867 (GRCh38)
17:18769180 (GRCh37)
Canonical SPDI:: NC_000017.11:18865866:A:T
Gene:: PRPSAP2 (Varview)
Functional Consequence:: stop_gained,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18865867A>T, NC_000017.10:g.18769180A>T, NM_002767.4:c.34A>T, NM_002767.3:c.34A>T, NM_001353100.2:c.-172A>T, NM_001353100.1:c.-172A>T, NM_001353099.2:c.-127A>T, NM_001353099.1:c.-127A>T, NM_001353106.2:c.34A>T, NM_001353106.1:c.34A>T, NM_001353097.2:c.-127A>T, NM_001353097.1:c.-127A>T, NM_001353102.2:c.34A>T, NM_001353102.1:c.34A>T, NM_001353098.2:c.196A>T, NM_001353098.1:c.196A>T, NM_001353101.2:c.34A>T, NM_001353101.1:c.34A>T, NM_001353107.2:c.34A>T, NM_001353107.1:c.34A>T, NM_001353105.2:c.34A>T, NM_001353105.1:c.34A>T, NM_001353103.2:c.-172A>T, NM_001353103.1:c.-172A>T, NM_001243936.2:c.34A>T, NM_001243936.1:c.34A>T, NM_001353104.2:c.-172A>T, NM_001353104.1:c.-172A>T, NM_001353096.1:c.-127A>T, XM_047436415.1:c.181A>T, NM_001243942.1:c.-172A>T, NM_001243941.1:c.-172A>T, NM_001243940.1:c.34A>T, XM_047436417.1:c.34A>T, XM_047436416.1:c.34A>T, NP_002758.1:p.Lys12Ter, NP_001340035.1:p.Lys12Ter, NP_001340031.1:p.Lys12Ter, NP_001340027.1:p.Lys66Ter, NP_001340030.1:p.Lys12Ter, NP_001340036.1:p.Lys12Ter, NP_001340034.1:p.Lys12Ter, NP_001230865.1:p.Lys12Ter, XP_047292371.1:p.Lys61Ter, NP_001230869.1:p.Lys12Ter, XP_047292373.1:p.Lys12Ter, XP_047292372.1:p.Lys12Ter

Select item 145238406220.

rs1452384062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:18877864 (GRCh38)
17:18781177 (GRCh37)
Canonical SPDI:: NC_000017.11:18877863:A:C
Gene:: PRPSAP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18877864A>C, NC_000017.10:g.18781177A>C, NM_002767.4:c.406A>C, NM_002767.3:c.406A>C, NM_001353100.2:c.148A>C, NM_001353100.1:c.148A>C, NM_001353099.2:c.271A>C, NM_001353099.1:c.271A>C, NM_001353106.2:c.406A>C, NM_001353106.1:c.406A>C, NM_001353097.2:c.271A>C, NM_001353097.1:c.271A>C, NM_001353102.2:c.406A>C, NM_001353102.1:c.406A>C, NM_001353098.2:c.568A>C, NM_001353098.1:c.568A>C, NM_001353101.2:c.406A>C, NM_001353101.1:c.406A>C, NM_001353107.2:c.406A>C, NM_001353107.1:c.406A>C, NM_001353105.2:c.406A>C, NM_001353105.1:c.406A>C, NM_001353103.2:c.148A>C, NM_001353103.1:c.148A>C, NM_001243936.2:c.286A>C, NM_001243936.1:c.286A>C, NM_001353104.2:c.148A>C, NM_001353104.1:c.148A>C, NM_001353096.1:c.271A>C, XM_047436415.1:c.553A>C, NM_001243942.1:c.148A>C, NM_001243941.1:c.148A>C, NM_001243940.1:c.406A>C, XM_047436417.1:c.406A>C, XM_047436416.1:c.406A>C, NP_002758.1:p.Lys136Gln, NP_001340029.1:p.Lys50Gln, NP_001340028.1:p.Lys91Gln, NP_001340035.1:p.Lys136Gln, NP_001340026.1:p.Lys91Gln, NP_001340031.1:p.Lys136Gln, NP_001340027.1:p.Lys190Gln, NP_001340030.1:p.Lys136Gln, NP_001340036.1:p.Lys136Gln, NP_001340034.1:p.Lys136Gln, NP_001340032.1:p.Lys50Gln, NP_001230865.1:p.Lys96Gln, NP_001340033.1:p.Lys50Gln, NP_001340025.1:p.Lys91Gln, XP_047292371.1:p.Lys185Gln, NP_001230871.1:p.Lys50Gln, NP_001230870.1:p.Lys50Gln, NP_001230869.1:p.Lys136Gln, XP_047292373.1:p.Lys136Gln, XP_047292372.1:p.Lys136Gln

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