SNP Links for Protein (Select 1034660766) - SNP

Links from Protein

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Select item 14910478411.

rs1491047841 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATA [Show Flanks]
Chromosome:: 8:106713943 (GRCh38)
8:107726172 (GRCh37)
Canonical SPDI:: NC_000008.11:106713943:A:AAATA
Gene:: OXR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
HGVS:: NC_000008.11:g.106713944_106713945insAATA, NC_000008.10:g.107726172_107726173insAATA, NM_181354.4:c.1894_1895insAATA, NM_018002.3:c.1915_1916insAATA, XM_017013589.3:c.1894_1895insAATA, XM_017013589.2:c.1894_1895insAATA, XM_017013589.1:c.1894_1895insAATA, XM_006716595.3:c.1918_1919insAATA, XM_006716595.2:c.1918_1919insAATA, XM_006716595.1:c.1918_1919insAATA, XM_017013593.3:c.1651_1652insAATA, XM_017013593.2:c.1651_1652insAATA, XM_017013593.1:c.1651_1652insAATA, NM_001198533.2:c.1915_1916insAATA, NM_001198533.1:c.1915_1916insAATA, XM_017013591.2:c.1708_1709insAATA, XM_017013591.1:c.1708_1709insAATA, XM_017013592.2:c.1705_1706insAATA, XM_017013592.1:c.1705_1706insAATA, XM_017013590.2:c.1714_1715insAATA, XM_017013590.1:c.1714_1715insAATA, XR_001745547.2:n.2017_2018insAATA, XR_001745547.1:n.2012_2013insAATA, NM_001198532.1:c.1918_1919insAATA, XM_047421919.1:c.1708_1709insAATA, XM_047421920.1:c.1705_1706insAATA, XM_047421918.1:c.1714_1715insAATA, XM_047421921.1:c.1198_1199insAATA, XM_047421922.1:c.1198_1199insAATA, XR_007060735.1:n.2073_2074insAATA, NP_851999.2:p.Ile632fs, NP_060472.2:p.Ile639fs, XP_016869078.1:p.Ile632fs, XP_006716658.1:p.Ile640fs, XP_016869082.1:p.Ile551fs, NP_001185462.1:p.Ile639fs, XP_016869080.1:p.Ile570fs, XP_016869081.1:p.Ile569fs, XP_016869079.1:p.Ile572fs, NP_001185461.1:p.Ile640fs, XP_047277875.1:p.Ile570fs, XP_047277876.1:p.Ile569fs, XP_047277874.1:p.Ile572fs, XP_047277877.1:p.Ile400fs, XP_047277878.1:p.Ile400fs

Select item 14897034242.

rs1489703424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:106739482 (GRCh38)
8:107751710 (GRCh37)
Canonical SPDI:: NC_000008.11:106739481:T:C
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.106739482T>C, NC_000008.10:g.107751710T>C, NM_181354.4:c.1960T>C, NM_018002.3:c.1981T>C, XM_017013589.3:c.2041T>C, XM_017013589.2:c.2041T>C, XM_017013589.1:c.2041T>C, XM_006716595.3:c.1984T>C, XM_006716595.2:c.1984T>C, XM_006716595.1:c.1984T>C, XM_017013593.3:c.1798T>C, XM_017013593.2:c.1798T>C, XM_017013593.1:c.1798T>C, NM_001198533.2:c.2062T>C, NM_001198533.1:c.2062T>C, XM_017013591.2:c.1855T>C, XM_017013591.1:c.1855T>C, XM_017013592.2:c.1852T>C, XM_017013592.1:c.1852T>C, XM_017013590.2:c.1861T>C, XM_017013590.1:c.1861T>C, XR_001745547.2:n.2202T>C, XR_001745547.1:n.2197T>C, NM_001198532.1:c.2065T>C, XM_047421919.1:c.1774T>C, XM_047421920.1:c.1771T>C, XM_047421918.1:c.1780T>C, XM_047421921.1:c.1345T>C, XM_047421922.1:c.1264T>C, NM_001198534.1:c.172T>C, NM_001198535.1:c.91T>C, XR_007060735.1:n.2258T>C, NP_851999.2:p.Ser654Pro, NP_060472.2:p.Ser661Pro, XP_016869078.1:p.Ser681Pro, XP_006716658.1:p.Ser662Pro, XP_016869082.1:p.Ser600Pro, NP_001185462.1:p.Ser688Pro, XP_016869080.1:p.Ser619Pro, XP_016869081.1:p.Ser618Pro, XP_016869079.1:p.Ser621Pro, NP_001185461.1:p.Ser689Pro, XP_047277875.1:p.Ser592Pro, XP_047277876.1:p.Ser591Pro, XP_047277874.1:p.Ser594Pro, XP_047277877.1:p.Ser449Pro, XP_047277878.1:p.Ser422Pro, NP_001185463.1:p.Ser58Pro, NP_001185464.1:p.Ser31Pro

Select item 14894017343.

rs1489401734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:106706475 (GRCh38)
8:107718703 (GRCh37)
Canonical SPDI:: NC_000008.11:106706474:A:G,NC_000008.11:106706474:A:T
Gene:: OXR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.106706475A>G, NC_000008.11:g.106706475A>T, NC_000008.10:g.107718703A>G, NC_000008.10:g.107718703A>T, NM_181354.4:c.933A>G, NM_181354.4:c.933A>T, NM_018002.3:c.954A>G, NM_018002.3:c.954A>T, XM_017013589.3:c.933A>G, XM_017013589.3:c.933A>T, XM_017013589.2:c.933A>G, XM_017013589.2:c.933A>T, XM_017013589.1:c.933A>G, XM_017013589.1:c.933A>T, XM_006716595.3:c.957A>G, XM_006716595.3:c.957A>T, XM_006716595.2:c.957A>G, XM_006716595.2:c.957A>T, XM_006716595.1:c.957A>G, XM_006716595.1:c.957A>T, XM_017013593.3:c.690A>G, XM_017013593.3:c.690A>T, XM_017013593.2:c.690A>G, XM_017013593.2:c.690A>T, XM_017013593.1:c.690A>G, XM_017013593.1:c.690A>T, NM_001198533.2:c.954A>G, NM_001198533.2:c.954A>T, NM_001198533.1:c.954A>G, NM_001198533.1:c.954A>T, XM_017013591.2:c.747A>G, XM_017013591.2:c.747A>T, XM_017013591.1:c.747A>G, XM_017013591.1:c.747A>T, XM_017013592.2:c.744A>G, XM_017013592.2:c.744A>T, XM_017013592.1:c.744A>G, XM_017013592.1:c.744A>T, XM_017013590.2:c.753A>G, XM_017013590.2:c.753A>T, XM_017013590.1:c.753A>G, XM_017013590.1:c.753A>T, XR_001745547.2:n.1056A>G, XR_001745547.2:n.1056A>T, XR_001745547.1:n.1051A>G, XR_001745547.1:n.1051A>T, NM_001198532.1:c.957A>G, NM_001198532.1:c.957A>T, XM_047421919.1:c.747A>G, XM_047421919.1:c.747A>T, XM_047421920.1:c.744A>G, XM_047421920.1:c.744A>T, XM_047421918.1:c.753A>G, XM_047421918.1:c.753A>T, XM_047421921.1:c.237A>G, XM_047421921.1:c.237A>T, XM_047421922.1:c.237A>G, XM_047421922.1:c.237A>T, XR_007060735.1:n.1112A>G, XR_007060735.1:n.1112A>T

Select item 14893354704.

rs1489335470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:106684344 (GRCh38)
8:107696572 (GRCh37)
Canonical SPDI:: NC_000008.11:106684343:A:G
Gene:: OXR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.106684344A>G, NC_000008.10:g.107696572A>G, NM_181354.4:c.489A>G, NM_018002.3:c.510A>G, XM_017013589.3:c.489A>G, XM_017013589.2:c.489A>G, XM_017013589.1:c.489A>G, XM_006716595.3:c.513A>G, XM_006716595.2:c.513A>G, XM_006716595.1:c.513A>G, XM_017013593.3:c.246A>G, XM_017013593.2:c.246A>G, XM_017013593.1:c.246A>G, NM_001198533.2:c.510A>G, NM_001198533.1:c.510A>G, XM_017013591.2:c.303A>G, XM_017013591.1:c.303A>G, XM_017013592.2:c.300A>G, XM_017013592.1:c.300A>G, XM_017013590.2:c.309A>G, XM_017013590.1:c.309A>G, XR_001745547.2:n.612A>G, XR_001745547.1:n.607A>G, NM_001198532.1:c.513A>G, XM_047421919.1:c.303A>G, XM_047421920.1:c.300A>G, XM_047421918.1:c.309A>G, XM_047421921.1:c.-23A>G, XM_047421922.1:c.-23A>G, XR_007060735.1:n.668A>G

Select item 14884155355.

rs1488415535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:106706847 (GRCh38)
8:107719075 (GRCh37)
Canonical SPDI:: NC_000008.11:106706846:T:A
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.106706847T>A, NC_000008.10:g.107719075T>A, NM_181354.4:c.1305T>A, NM_018002.3:c.1326T>A, XM_017013589.3:c.1305T>A, XM_017013589.2:c.1305T>A, XM_017013589.1:c.1305T>A, XM_006716595.3:c.1329T>A, XM_006716595.2:c.1329T>A, XM_006716595.1:c.1329T>A, XM_017013593.3:c.1062T>A, XM_017013593.2:c.1062T>A, XM_017013593.1:c.1062T>A, NM_001198533.2:c.1326T>A, NM_001198533.1:c.1326T>A, XM_017013591.2:c.1119T>A, XM_017013591.1:c.1119T>A, XM_017013592.2:c.1116T>A, XM_017013592.1:c.1116T>A, XM_017013590.2:c.1125T>A, XM_017013590.1:c.1125T>A, XR_001745547.2:n.1428T>A, XR_001745547.1:n.1423T>A, NM_001198532.1:c.1329T>A, XM_047421919.1:c.1119T>A, XM_047421920.1:c.1116T>A, XM_047421918.1:c.1125T>A, XM_047421921.1:c.609T>A, XM_047421922.1:c.609T>A, XR_007060735.1:n.1484T>A, NP_851999.2:p.Ser435Arg, NP_060472.2:p.Ser442Arg, XP_016869078.1:p.Ser435Arg, XP_006716658.1:p.Ser443Arg, XP_016869082.1:p.Ser354Arg, NP_001185462.1:p.Ser442Arg, XP_016869080.1:p.Ser373Arg, XP_016869081.1:p.Ser372Arg, XP_016869079.1:p.Ser375Arg, NP_001185461.1:p.Ser443Arg, XP_047277875.1:p.Ser373Arg, XP_047277876.1:p.Ser372Arg, XP_047277874.1:p.Ser375Arg, XP_047277877.1:p.Ser203Arg, XP_047277878.1:p.Ser203Arg

Select item 14881960086.

rs1488196008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:106702993 (GRCh38)
8:107715221 (GRCh37)
Canonical SPDI:: NC_000008.11:106702992:T:C
Gene:: OXR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000008.11:g.106702993T>C, NC_000008.10:g.107715221T>C, NM_181354.4:c.742T>C, NM_018002.3:c.763T>C, XM_017013589.3:c.742T>C, XM_017013589.2:c.742T>C, XM_017013589.1:c.742T>C, XM_006716595.3:c.766T>C, XM_006716595.2:c.766T>C, XM_006716595.1:c.766T>C, XM_017013593.3:c.499T>C, XM_017013593.2:c.499T>C, XM_017013593.1:c.499T>C, NM_001198533.2:c.763T>C, NM_001198533.1:c.763T>C, XM_017013591.2:c.556T>C, XM_017013591.1:c.556T>C, XM_017013592.2:c.553T>C, XM_017013592.1:c.553T>C, XM_017013590.2:c.562T>C, XM_017013590.1:c.562T>C, XR_001745547.2:n.865T>C, XR_001745547.1:n.860T>C, NM_001198532.1:c.766T>C, XM_047421919.1:c.556T>C, XM_047421920.1:c.553T>C, XM_047421918.1:c.562T>C, XR_007060735.1:n.921T>C, NP_851999.2:p.Cys248Arg, NP_060472.2:p.Cys255Arg, XP_016869078.1:p.Cys248Arg, XP_006716658.1:p.Cys256Arg, XP_016869082.1:p.Cys167Arg, NP_001185462.1:p.Cys255Arg, XP_016869080.1:p.Cys186Arg, XP_016869081.1:p.Cys185Arg, XP_016869079.1:p.Cys188Arg, NP_001185461.1:p.Cys256Arg, XP_047277875.1:p.Cys186Arg, XP_047277876.1:p.Cys185Arg, XP_047277874.1:p.Cys188Arg

Select item 14880236317.

rs1488023631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:106713962 (GRCh38)
8:107726190 (GRCh37)
Canonical SPDI:: NC_000008.11:106713961:C:A
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.106713962C>A, NC_000008.10:g.107726190C>A, NM_181354.4:c.1912C>A, NM_018002.3:c.1933C>A, XM_017013589.3:c.1912C>A, XM_017013589.2:c.1912C>A, XM_017013589.1:c.1912C>A, XM_006716595.3:c.1936C>A, XM_006716595.2:c.1936C>A, XM_006716595.1:c.1936C>A, XM_017013593.3:c.1669C>A, XM_017013593.2:c.1669C>A, XM_017013593.1:c.1669C>A, NM_001198533.2:c.1933C>A, NM_001198533.1:c.1933C>A, XM_017013591.2:c.1726C>A, XM_017013591.1:c.1726C>A, XM_017013592.2:c.1723C>A, XM_017013592.1:c.1723C>A, XM_017013590.2:c.1732C>A, XM_017013590.1:c.1732C>A, XR_001745547.2:n.2035C>A, XR_001745547.1:n.2030C>A, NM_001198532.1:c.1936C>A, XM_047421919.1:c.1726C>A, XM_047421920.1:c.1723C>A, XM_047421918.1:c.1732C>A, XM_047421921.1:c.1216C>A, XM_047421922.1:c.1216C>A, XR_007060735.1:n.2091C>A, NP_851999.2:p.Gln638Lys, NP_060472.2:p.Gln645Lys, XP_016869078.1:p.Gln638Lys, XP_006716658.1:p.Gln646Lys, XP_016869082.1:p.Gln557Lys, NP_001185462.1:p.Gln645Lys, XP_016869080.1:p.Gln576Lys, XP_016869081.1:p.Gln575Lys, XP_016869079.1:p.Gln578Lys, NP_001185461.1:p.Gln646Lys, XP_047277875.1:p.Gln576Lys, XP_047277876.1:p.Gln575Lys, XP_047277874.1:p.Gln578Lys, XP_047277877.1:p.Gln406Lys, XP_047277878.1:p.Gln406Lys

Select item 14845333828.

rs1484533382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:106692852 (GRCh38)
8:107705080 (GRCh37)
Canonical SPDI:: NC_000008.11:106692851:A:G
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.106692852A>G, NC_000008.10:g.107705080A>G, NM_181354.4:c.629A>G, NM_018002.3:c.650A>G, XM_017013589.3:c.629A>G, XM_017013589.2:c.629A>G, XM_017013589.1:c.629A>G, XM_006716595.3:c.653A>G, XM_006716595.2:c.653A>G, XM_006716595.1:c.653A>G, XM_017013593.3:c.386A>G, XM_017013593.2:c.386A>G, XM_017013593.1:c.386A>G, NM_001198533.2:c.650A>G, NM_001198533.1:c.650A>G, XM_017013591.2:c.443A>G, XM_017013591.1:c.443A>G, XM_017013592.2:c.440A>G, XM_017013592.1:c.440A>G, XM_017013590.2:c.449A>G, XM_017013590.1:c.449A>G, XR_001745547.2:n.752A>G, XR_001745547.1:n.747A>G, NM_001198532.1:c.653A>G, XM_047421919.1:c.443A>G, XM_047421920.1:c.440A>G, XM_047421918.1:c.449A>G, XM_047421921.1:c.118A>G, XM_047421922.1:c.118A>G, XR_007060735.1:n.808A>G, NP_851999.2:p.Asn210Ser, NP_060472.2:p.Asn217Ser, XP_016869078.1:p.Asn210Ser, XP_006716658.1:p.Asn218Ser, XP_016869082.1:p.Asn129Ser, NP_001185462.1:p.Asn217Ser, XP_016869080.1:p.Asn148Ser, XP_016869081.1:p.Asn147Ser, XP_016869079.1:p.Asn150Ser, NP_001185461.1:p.Asn218Ser, XP_047277875.1:p.Asn148Ser, XP_047277876.1:p.Asn147Ser, XP_047277874.1:p.Asn150Ser, XP_047277877.1:p.Ile40Val, XP_047277878.1:p.Ile40Val

Select item 14844972269.

rs1484497226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:106706631 (GRCh38)
8:107718859 (GRCh37)
Canonical SPDI:: NC_000008.11:106706630:G:A
Gene:: OXR1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.106706631G>A, NC_000008.10:g.107718859G>A, NM_181354.4:c.1089G>A, NM_018002.3:c.1110G>A, XM_017013589.3:c.1089G>A, XM_017013589.2:c.1089G>A, XM_017013589.1:c.1089G>A, XM_006716595.3:c.1113G>A, XM_006716595.2:c.1113G>A, XM_006716595.1:c.1113G>A, XM_017013593.3:c.846G>A, XM_017013593.2:c.846G>A, XM_017013593.1:c.846G>A, NM_001198533.2:c.1110G>A, NM_001198533.1:c.1110G>A, XM_017013591.2:c.903G>A, XM_017013591.1:c.903G>A, XM_017013592.2:c.900G>A, XM_017013592.1:c.900G>A, XM_017013590.2:c.909G>A, XM_017013590.1:c.909G>A, XR_001745547.2:n.1212G>A, XR_001745547.1:n.1207G>A, NM_001198532.1:c.1113G>A, XM_047421919.1:c.903G>A, XM_047421920.1:c.900G>A, XM_047421918.1:c.909G>A, XM_047421921.1:c.393G>A, XM_047421922.1:c.393G>A, XR_007060735.1:n.1268G>A

Select item 148444699810.

rs1484446998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:106750937 (GRCh38)
8:107763165 (GRCh37)
Canonical SPDI:: NC_000008.11:106750936:A:T
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.106750937A>T, NC_000008.10:g.107763165A>T, NM_181354.4:c.2516A>T, NM_018002.3:c.2537A>T, XM_017013589.3:c.2597A>T, XM_017013589.2:c.2597A>T, XM_017013589.1:c.2597A>T, XM_006716595.3:c.2540A>T, XM_006716595.2:c.2540A>T, XM_006716595.1:c.2540A>T, XM_017013593.3:c.2354A>T, XM_017013593.2:c.2354A>T, XM_017013593.1:c.2354A>T, NM_001198533.2:c.2618A>T, NM_001198533.1:c.2618A>T, XM_017013591.2:c.2411A>T, XM_017013591.1:c.2411A>T, XM_017013592.2:c.2408A>T, XM_017013592.1:c.2408A>T, XM_017013590.2:c.2417A>T, XM_017013590.1:c.2417A>T, NM_001198532.1:c.2621A>T, XM_047421919.1:c.2330A>T, XM_047421920.1:c.2327A>T, XM_047421918.1:c.2336A>T, XM_047421921.1:c.1901A>T, XM_047421922.1:c.1820A>T, NM_001198534.1:c.728A>T, NM_001198535.1:c.647A>T, NP_851999.2:p.Glu839Val, NP_060472.2:p.Glu846Val, XP_016869078.1:p.Glu866Val, XP_006716658.1:p.Glu847Val, XP_016869082.1:p.Glu785Val, NP_001185462.1:p.Glu873Val, XP_016869080.1:p.Glu804Val, XP_016869081.1:p.Glu803Val, XP_016869079.1:p.Glu806Val, NP_001185461.1:p.Glu874Val, XP_047277875.1:p.Glu777Val, XP_047277876.1:p.Glu776Val, XP_047277874.1:p.Glu779Val, XP_047277877.1:p.Glu634Val, XP_047277878.1:p.Glu607Val, NP_001185463.1:p.Glu243Val, NP_001185464.1:p.Glu216Val

Select item 148398481711.

rs1483984817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:106706833 (GRCh38)
8:107719061 (GRCh37)
Canonical SPDI:: NC_000008.11:106706832:G:A,NC_000008.11:106706832:G:C
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.106706833G>A, NC_000008.11:g.106706833G>C, NC_000008.10:g.107719061G>A, NC_000008.10:g.107719061G>C, NM_181354.4:c.1291G>A, NM_181354.4:c.1291G>C, NM_018002.3:c.1312G>A, NM_018002.3:c.1312G>C, XM_017013589.3:c.1291G>A, XM_017013589.3:c.1291G>C, XM_017013589.2:c.1291G>A, XM_017013589.2:c.1291G>C, XM_017013589.1:c.1291G>A, XM_017013589.1:c.1291G>C, XM_006716595.3:c.1315G>A, XM_006716595.3:c.1315G>C, XM_006716595.2:c.1315G>A, XM_006716595.2:c.1315G>C, XM_006716595.1:c.1315G>A, XM_006716595.1:c.1315G>C, XM_017013593.3:c.1048G>A, XM_017013593.3:c.1048G>C, XM_017013593.2:c.1048G>A, XM_017013593.2:c.1048G>C, XM_017013593.1:c.1048G>A, XM_017013593.1:c.1048G>C, NM_001198533.2:c.1312G>A, NM_001198533.2:c.1312G>C, NM_001198533.1:c.1312G>A, NM_001198533.1:c.1312G>C, XM_017013591.2:c.1105G>A, XM_017013591.2:c.1105G>C, XM_017013591.1:c.1105G>A, XM_017013591.1:c.1105G>C, XM_017013592.2:c.1102G>A, XM_017013592.2:c.1102G>C, XM_017013592.1:c.1102G>A, XM_017013592.1:c.1102G>C, XM_017013590.2:c.1111G>A, XM_017013590.2:c.1111G>C, XM_017013590.1:c.1111G>A, XM_017013590.1:c.1111G>C, XR_001745547.2:n.1414G>A, XR_001745547.2:n.1414G>C, XR_001745547.1:n.1409G>A, XR_001745547.1:n.1409G>C, NM_001198532.1:c.1315G>A, NM_001198532.1:c.1315G>C, XM_047421919.1:c.1105G>A, XM_047421919.1:c.1105G>C, XM_047421920.1:c.1102G>A, XM_047421920.1:c.1102G>C, XM_047421918.1:c.1111G>A, XM_047421918.1:c.1111G>C, XM_047421921.1:c.595G>A, XM_047421921.1:c.595G>C, XM_047421922.1:c.595G>A, XM_047421922.1:c.595G>C, XR_007060735.1:n.1470G>A, XR_007060735.1:n.1470G>C, NP_851999.2:p.Glu431Lys, NP_851999.2:p.Glu431Gln, NP_060472.2:p.Glu438Lys, NP_060472.2:p.Glu438Gln, XP_016869078.1:p.Glu431Lys, XP_016869078.1:p.Glu431Gln, XP_006716658.1:p.Glu439Lys, XP_006716658.1:p.Glu439Gln, XP_016869082.1:p.Glu350Lys, XP_016869082.1:p.Glu350Gln, NP_001185462.1:p.Glu438Lys, NP_001185462.1:p.Glu438Gln, XP_016869080.1:p.Glu369Lys, XP_016869080.1:p.Glu369Gln, XP_016869081.1:p.Glu368Lys, XP_016869081.1:p.Glu368Gln, XP_016869079.1:p.Glu371Lys, XP_016869079.1:p.Glu371Gln, NP_001185461.1:p.Glu439Lys, NP_001185461.1:p.Glu439Gln, XP_047277875.1:p.Glu369Lys, XP_047277875.1:p.Glu369Gln, XP_047277876.1:p.Glu368Lys, XP_047277876.1:p.Glu368Gln, XP_047277874.1:p.Glu371Lys, XP_047277874.1:p.Glu371Gln, XP_047277877.1:p.Glu199Lys, XP_047277877.1:p.Glu199Gln, XP_047277878.1:p.Glu199Lys, XP_047277878.1:p.Glu199Gln

Select item 148227732112.

rs1482277321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:106706743 (GRCh38)
8:107718971 (GRCh37)
Canonical SPDI:: NC_000008.11:106706742:T:G
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.106706743T>G, NC_000008.10:g.107718971T>G, NM_181354.4:c.1201T>G, NM_018002.3:c.1222T>G, XM_017013589.3:c.1201T>G, XM_017013589.2:c.1201T>G, XM_017013589.1:c.1201T>G, XM_006716595.3:c.1225T>G, XM_006716595.2:c.1225T>G, XM_006716595.1:c.1225T>G, XM_017013593.3:c.958T>G, XM_017013593.2:c.958T>G, XM_017013593.1:c.958T>G, NM_001198533.2:c.1222T>G, NM_001198533.1:c.1222T>G, XM_017013591.2:c.1015T>G, XM_017013591.1:c.1015T>G, XM_017013592.2:c.1012T>G, XM_017013592.1:c.1012T>G, XM_017013590.2:c.1021T>G, XM_017013590.1:c.1021T>G, XR_001745547.2:n.1324T>G, XR_001745547.1:n.1319T>G, NM_001198532.1:c.1225T>G, XM_047421919.1:c.1015T>G, XM_047421920.1:c.1012T>G, XM_047421918.1:c.1021T>G, XM_047421921.1:c.505T>G, XM_047421922.1:c.505T>G, XR_007060735.1:n.1380T>G, NP_851999.2:p.Leu401Val, NP_060472.2:p.Leu408Val, XP_016869078.1:p.Leu401Val, XP_006716658.1:p.Leu409Val, XP_016869082.1:p.Leu320Val, NP_001185462.1:p.Leu408Val, XP_016869080.1:p.Leu339Val, XP_016869081.1:p.Leu338Val, XP_016869079.1:p.Leu341Val, NP_001185461.1:p.Leu409Val, XP_047277875.1:p.Leu339Val, XP_047277876.1:p.Leu338Val, XP_047277874.1:p.Leu341Val, XP_047277877.1:p.Leu169Val, XP_047277878.1:p.Leu169Val

Select item 147882016113.

rs1478820161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:106684269 (GRCh38)
8:107696497 (GRCh37)
Canonical SPDI:: NC_000008.11:106684268:A:G
Gene:: OXR1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.106684269A>G, NC_000008.10:g.107696497A>G, NM_181354.4:c.414A>G, NM_018002.3:c.435A>G, XM_017013589.3:c.414A>G, XM_017013589.2:c.414A>G, XM_017013589.1:c.414A>G, XM_006716595.3:c.438A>G, XM_006716595.2:c.438A>G, XM_006716595.1:c.438A>G, XM_017013593.3:c.171A>G, XM_017013593.2:c.171A>G, XM_017013593.1:c.171A>G, NM_001198533.2:c.435A>G, NM_001198533.1:c.435A>G, XM_017013591.2:c.228A>G, XM_017013591.1:c.228A>G, XM_017013592.2:c.225A>G, XM_017013592.1:c.225A>G, XM_017013590.2:c.234A>G, XM_017013590.1:c.234A>G, XR_001745547.2:n.537A>G, XR_001745547.1:n.532A>G, NM_001198532.1:c.438A>G, XM_047421919.1:c.228A>G, XM_047421920.1:c.225A>G, XM_047421918.1:c.234A>G, XM_047421921.1:c.-98A>G, XM_047421922.1:c.-98A>G, XR_007060735.1:n.593A>G

Select item 147854807614.

rs1478548076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:106706485 (GRCh38)
8:107718713 (GRCh37)
Canonical SPDI:: NC_000008.11:106706484:A:G
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.106706485A>G, NC_000008.10:g.107718713A>G, NM_181354.4:c.943A>G, NM_018002.3:c.964A>G, XM_017013589.3:c.943A>G, XM_017013589.2:c.943A>G, XM_017013589.1:c.943A>G, XM_006716595.3:c.967A>G, XM_006716595.2:c.967A>G, XM_006716595.1:c.967A>G, XM_017013593.3:c.700A>G, XM_017013593.2:c.700A>G, XM_017013593.1:c.700A>G, NM_001198533.2:c.964A>G, NM_001198533.1:c.964A>G, XM_017013591.2:c.757A>G, XM_017013591.1:c.757A>G, XM_017013592.2:c.754A>G, XM_017013592.1:c.754A>G, XM_017013590.2:c.763A>G, XM_017013590.1:c.763A>G, XR_001745547.2:n.1066A>G, XR_001745547.1:n.1061A>G, NM_001198532.1:c.967A>G, XM_047421919.1:c.757A>G, XM_047421920.1:c.754A>G, XM_047421918.1:c.763A>G, XM_047421921.1:c.247A>G, XM_047421922.1:c.247A>G, XR_007060735.1:n.1122A>G, NP_851999.2:p.Ser315Gly, NP_060472.2:p.Ser322Gly, XP_016869078.1:p.Ser315Gly, XP_006716658.1:p.Ser323Gly, XP_016869082.1:p.Ser234Gly, NP_001185462.1:p.Ser322Gly, XP_016869080.1:p.Ser253Gly, XP_016869081.1:p.Ser252Gly, XP_016869079.1:p.Ser255Gly, NP_001185461.1:p.Ser323Gly, XP_047277875.1:p.Ser253Gly, XP_047277876.1:p.Ser252Gly, XP_047277874.1:p.Ser255Gly, XP_047277877.1:p.Ser83Gly, XP_047277878.1:p.Ser83Gly

Select item 147763589315.

rs1477635893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:106706720 (GRCh38)
8:107718948 (GRCh37)
Canonical SPDI:: NC_000008.11:106706719:A:G
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.106706720A>G, NC_000008.10:g.107718948A>G, NM_181354.4:c.1178A>G, NM_018002.3:c.1199A>G, XM_017013589.3:c.1178A>G, XM_017013589.2:c.1178A>G, XM_017013589.1:c.1178A>G, XM_006716595.3:c.1202A>G, XM_006716595.2:c.1202A>G, XM_006716595.1:c.1202A>G, XM_017013593.3:c.935A>G, XM_017013593.2:c.935A>G, XM_017013593.1:c.935A>G, NM_001198533.2:c.1199A>G, NM_001198533.1:c.1199A>G, XM_017013591.2:c.992A>G, XM_017013591.1:c.992A>G, XM_017013592.2:c.989A>G, XM_017013592.1:c.989A>G, XM_017013590.2:c.998A>G, XM_017013590.1:c.998A>G, XR_001745547.2:n.1301A>G, XR_001745547.1:n.1296A>G, NM_001198532.1:c.1202A>G, XM_047421919.1:c.992A>G, XM_047421920.1:c.989A>G, XM_047421918.1:c.998A>G, XM_047421921.1:c.482A>G, XM_047421922.1:c.482A>G, XR_007060735.1:n.1357A>G, NP_851999.2:p.His393Arg, NP_060472.2:p.His400Arg, XP_016869078.1:p.His393Arg, XP_006716658.1:p.His401Arg, XP_016869082.1:p.His312Arg, NP_001185462.1:p.His400Arg, XP_016869080.1:p.His331Arg, XP_016869081.1:p.His330Arg, XP_016869079.1:p.His333Arg, NP_001185461.1:p.His401Arg, XP_047277875.1:p.His331Arg, XP_047277876.1:p.His330Arg, XP_047277874.1:p.His333Arg, XP_047277877.1:p.His161Arg, XP_047277878.1:p.His161Arg

Select item 147685627616.

rs1476856276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:106706405 (GRCh38)
8:107718633 (GRCh37)
Canonical SPDI:: NC_000008.11:106706404:G:A
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.106706405G>A, NC_000008.10:g.107718633G>A, NM_181354.4:c.863G>A, NM_018002.3:c.884G>A, XM_017013589.3:c.863G>A, XM_017013589.2:c.863G>A, XM_017013589.1:c.863G>A, XM_006716595.3:c.887G>A, XM_006716595.2:c.887G>A, XM_006716595.1:c.887G>A, XM_017013593.3:c.620G>A, XM_017013593.2:c.620G>A, XM_017013593.1:c.620G>A, NM_001198533.2:c.884G>A, NM_001198533.1:c.884G>A, XM_017013591.2:c.677G>A, XM_017013591.1:c.677G>A, XM_017013592.2:c.674G>A, XM_017013592.1:c.674G>A, XM_017013590.2:c.683G>A, XM_017013590.1:c.683G>A, XR_001745547.2:n.986G>A, XR_001745547.1:n.981G>A, NM_001198532.1:c.887G>A, XM_047421919.1:c.677G>A, XM_047421920.1:c.674G>A, XM_047421918.1:c.683G>A, XM_047421921.1:c.167G>A, XM_047421922.1:c.167G>A, XR_007060735.1:n.1042G>A, NP_851999.2:p.Arg288Lys, NP_060472.2:p.Arg295Lys, XP_016869078.1:p.Arg288Lys, XP_006716658.1:p.Arg296Lys, XP_016869082.1:p.Arg207Lys, NP_001185462.1:p.Arg295Lys, XP_016869080.1:p.Arg226Lys, XP_016869081.1:p.Arg225Lys, XP_016869079.1:p.Arg228Lys, NP_001185461.1:p.Arg296Lys, XP_047277875.1:p.Arg226Lys, XP_047277876.1:p.Arg225Lys, XP_047277874.1:p.Arg228Lys, XP_047277877.1:p.Arg56Lys, XP_047277878.1:p.Arg56Lys

Select item 147669395117.

rs1476693951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:106737547 (GRCh38)
8:107749775 (GRCh37)
Canonical SPDI:: NC_000008.11:106737546:A:G
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000008.11:g.106737547A>G, NC_000008.10:g.107749775A>G, XM_017013589.3:c.1963A>G, XM_017013589.2:c.1963A>G, XM_017013589.1:c.1963A>G, XM_017013593.3:c.1720A>G, XM_017013593.2:c.1720A>G, XM_017013593.1:c.1720A>G, NM_001198533.2:c.1984A>G, NM_001198533.1:c.1984A>G, XM_017013591.2:c.1777A>G, XM_017013591.1:c.1777A>G, XM_017013592.2:c.1774A>G, XM_017013592.1:c.1774A>G, XM_017013590.2:c.1783A>G, XM_017013590.1:c.1783A>G, NM_001198532.1:c.1987A>G, XM_047421921.1:c.1267A>G, NM_001198534.1:c.94A>G, XP_016869078.1:p.Arg655Gly, XP_016869082.1:p.Arg574Gly, NP_001185462.1:p.Arg662Gly, XP_016869080.1:p.Arg593Gly, XP_016869081.1:p.Arg592Gly, XP_016869079.1:p.Arg595Gly, NP_001185461.1:p.Arg663Gly, XP_047277877.1:p.Arg423Gly, NP_001185463.1:p.Arg32Gly

Select item 147603772418.

rs1476037724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:106684249 (GRCh38)
8:107696477 (GRCh37)
Canonical SPDI:: NC_000008.11:106684248:C:A
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_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_000008.11:g.106684249C>A, NC_000008.10:g.107696477C>A, NM_181354.4:c.394C>A, NM_018002.3:c.415C>A, XM_017013589.3:c.394C>A, XM_017013589.2:c.394C>A, XM_017013589.1:c.394C>A, XM_006716595.3:c.418C>A, XM_006716595.2:c.418C>A, XM_006716595.1:c.418C>A, XM_017013593.3:c.151C>A, XM_017013593.2:c.151C>A, XM_017013593.1:c.151C>A, NM_001198533.2:c.415C>A, NM_001198533.1:c.415C>A, XM_017013591.2:c.208C>A, XM_017013591.1:c.208C>A, XM_017013592.2:c.205C>A, XM_017013592.1:c.205C>A, XM_017013590.2:c.214C>A, XM_017013590.1:c.214C>A, XR_001745547.2:n.517C>A, XR_001745547.1:n.512C>A, NM_001198532.1:c.418C>A, XM_047421919.1:c.208C>A, XM_047421920.1:c.205C>A, XM_047421918.1:c.214C>A, XR_007060735.1:n.573C>A, NP_851999.2:p.Leu132Met, NP_060472.2:p.Leu139Met, XP_016869078.1:p.Leu132Met, XP_006716658.1:p.Leu140Met, XP_016869082.1:p.Leu51Met, NP_001185462.1:p.Leu139Met, XP_016869080.1:p.Leu70Met, XP_016869081.1:p.Leu69Met, XP_016869079.1:p.Leu72Met, NP_001185461.1:p.Leu140Met, XP_047277875.1:p.Leu70Met, XP_047277876.1:p.Leu69Met, XP_047277874.1:p.Leu72Met

Select item 146659585619.

rs1466595856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:106745811 (GRCh38)
8:107758039 (GRCh37)
Canonical SPDI:: NC_000008.11:106745810:A:G
Gene:: OXR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.106745811A>G, NC_000008.10:g.107758039A>G, NM_181354.4:c.2333A>G, NM_018002.3:c.2354A>G, XM_017013589.3:c.2414A>G, XM_017013589.2:c.2414A>G, XM_017013589.1:c.2414A>G, XM_006716595.3:c.2357A>G, XM_006716595.2:c.2357A>G, XM_006716595.1:c.2357A>G, XM_017013593.3:c.2171A>G, XM_017013593.2:c.2171A>G, XM_017013593.1:c.2171A>G, NM_001198533.2:c.2435A>G, NM_001198533.1:c.2435A>G, XM_017013591.2:c.2228A>G, XM_017013591.1:c.2228A>G, XM_017013592.2:c.2225A>G, XM_017013592.1:c.2225A>G, XM_017013590.2:c.2234A>G, XM_017013590.1:c.2234A>G, NM_001198532.1:c.2438A>G, XM_047421919.1:c.2147A>G, XM_047421920.1:c.2144A>G, XM_047421918.1:c.2153A>G, XM_047421921.1:c.1718A>G, XM_047421922.1:c.1637A>G, NM_001198534.1:c.545A>G, NM_001198535.1:c.464A>G, NP_851999.2:p.Asn778Ser, NP_060472.2:p.Asn785Ser, XP_016869078.1:p.Asn805Ser, XP_006716658.1:p.Asn786Ser, XP_016869082.1:p.Asn724Ser, NP_001185462.1:p.Asn812Ser, XP_016869080.1:p.Asn743Ser, XP_016869081.1:p.Asn742Ser, XP_016869079.1:p.Asn745Ser, NP_001185461.1:p.Asn813Ser, XP_047277875.1:p.Asn716Ser, XP_047277876.1:p.Asn715Ser, XP_047277874.1:p.Asn718Ser, XP_047277877.1:p.Asn573Ser, XP_047277878.1:p.Asn546Ser, NP_001185463.1:p.Asn182Ser, NP_001185464.1:p.Asn155Ser

Select item 146582115120.

rs1465821151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:106692785 (GRCh38)
8:107705013 (GRCh37)
Canonical SPDI:: NC_000008.11:106692784:C:A,NC_000008.11:106692784:C:G
Gene:: OXR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.106692785C>A, NC_000008.11:g.106692785C>G, NC_000008.10:g.107705013C>A, NC_000008.10:g.107705013C>G, NM_181354.4:c.562C>A, NM_181354.4:c.562C>G, NM_018002.3:c.583C>A, NM_018002.3:c.583C>G, XM_017013589.3:c.562C>A, XM_017013589.3:c.562C>G, XM_017013589.2:c.562C>A, XM_017013589.2:c.562C>G, XM_017013589.1:c.562C>A, XM_017013589.1:c.562C>G, XM_006716595.3:c.586C>A, XM_006716595.3:c.586C>G, XM_006716595.2:c.586C>A, XM_006716595.2:c.586C>G, XM_006716595.1:c.586C>A, XM_006716595.1:c.586C>G, XM_017013593.3:c.319C>A, XM_017013593.3:c.319C>G, XM_017013593.2:c.319C>A, XM_017013593.2:c.319C>G, XM_017013593.1:c.319C>A, XM_017013593.1:c.319C>G, NM_001198533.2:c.583C>A, NM_001198533.2:c.583C>G, NM_001198533.1:c.583C>A, NM_001198533.1:c.583C>G, XM_017013591.2:c.376C>A, XM_017013591.2:c.376C>G, XM_017013591.1:c.376C>A, XM_017013591.1:c.376C>G, XM_017013592.2:c.373C>A, XM_017013592.2:c.373C>G, XM_017013592.1:c.373C>A, XM_017013592.1:c.373C>G, XM_017013590.2:c.382C>A, XM_017013590.2:c.382C>G, XM_017013590.1:c.382C>A, XM_017013590.1:c.382C>G, XR_001745547.2:n.685C>A, XR_001745547.2:n.685C>G, XR_001745547.1:n.680C>A, XR_001745547.1:n.680C>G, NM_001198532.1:c.586C>A, NM_001198532.1:c.586C>G, XM_047421919.1:c.376C>A, XM_047421919.1:c.376C>G, XM_047421920.1:c.373C>A, XM_047421920.1:c.373C>G, XM_047421918.1:c.382C>A, XM_047421918.1:c.382C>G, XM_047421921.1:c.51C>A, XM_047421921.1:c.51C>G, XM_047421922.1:c.51C>A, XM_047421922.1:c.51C>G, XR_007060735.1:n.741C>A, XR_007060735.1:n.741C>G, NP_851999.2:p.Pro188Thr, NP_851999.2:p.Pro188Ala, NP_060472.2:p.Pro195Thr, NP_060472.2:p.Pro195Ala, XP_016869078.1:p.Pro188Thr, XP_016869078.1:p.Pro188Ala, XP_006716658.1:p.Pro196Thr, XP_006716658.1:p.Pro196Ala, XP_016869082.1:p.Pro107Thr, XP_016869082.1:p.Pro107Ala, NP_001185462.1:p.Pro195Thr, NP_001185462.1:p.Pro195Ala, XP_016869080.1:p.Pro126Thr, XP_016869080.1:p.Pro126Ala, XP_016869081.1:p.Pro125Thr, XP_016869081.1:p.Pro125Ala, XP_016869079.1:p.Pro128Thr, XP_016869079.1:p.Pro128Ala, NP_001185461.1:p.Pro196Thr, NP_001185461.1:p.Pro196Ala, XP_047277875.1:p.Pro126Thr, XP_047277875.1:p.Pro126Ala, XP_047277876.1:p.Pro125Thr, XP_047277876.1:p.Pro125Ala, XP_047277874.1:p.Pro128Thr, XP_047277874.1:p.Pro128Ala, XP_047277877.1:p.Asp17Glu, XP_047277877.1:p.Asp17Glu, XP_047277878.1:p.Asp17Glu, XP_047277878.1:p.Asp17Glu

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