SNP Links for Protein (Select 1034643854) - SNP

Links from Protein

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Select item 14714652681.

rs1471465268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:34868964 (GRCh38)
5:34869069 (GRCh37)
Canonical SPDI:: NC_000005.10:34868963:T:A,NC_000005.10:34868963:T:G
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,3_prime_UTR_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)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000005.10:g.34868964T>A, NC_000005.10:g.34868964T>G, NC_000005.9:g.34869069T>A, NC_000005.9:g.34869069T>G, XM_011513987.4:c.*1705T>A, XM_011513987.4:c.*1705T>G, XM_011513987.2:c.*1705T>A, XM_011513987.2:c.*1705T>G, XM_011513984.4:c.900T>A, XM_011513984.4:c.900T>G, XM_011513984.3:c.900T>A, XM_011513984.3:c.900T>G, XM_011513984.2:c.900T>A, XM_011513984.2:c.900T>G, XM_011513984.1:c.900T>A, XM_011513984.1:c.900T>G, NM_144725.4:c.900T>A, NM_144725.4:c.900T>G, NM_144725.3:c.900T>A, NM_144725.3:c.900T>G, XM_017009119.3:c.927T>A, XM_017009119.3:c.927T>G, XM_017009119.2:c.927T>A, XM_017009119.2:c.927T>G, XM_017009119.1:c.927T>A, XM_017009119.1:c.927T>G, XM_017009122.3:c.900T>A, XM_017009122.3:c.900T>G, XM_017009122.2:c.900T>A, XM_017009122.2:c.900T>G, XM_017009122.1:c.900T>A, XM_017009122.1:c.900T>G, XM_017009120.3:c.900T>A, XM_017009120.3:c.900T>G, XM_017009120.2:c.900T>A, XM_017009120.2:c.900T>G, XM_017009120.1:c.900T>A, XM_017009120.1:c.900T>G, XM_017009121.3:c.900T>A, XM_017009121.3:c.900T>G, XM_017009121.2:c.900T>A, XM_017009121.2:c.900T>G, XM_017009121.1:c.900T>A, XM_017009121.1:c.900T>G, XM_017009124.3:c.612T>A, XM_017009124.3:c.612T>G, XM_017009124.2:c.612T>A, XM_017009124.2:c.612T>G, XM_017009124.1:c.612T>A, XM_017009124.1:c.612T>G, XM_017009126.3:c.552T>A, XM_017009126.3:c.552T>G, XM_017009126.2:c.552T>A, XM_017009126.2:c.552T>G, XM_017009126.1:c.552T>A, XM_017009126.1:c.552T>G, XM_017009123.3:c.900T>A, XM_017009123.3:c.900T>G, XM_017009123.2:c.900T>A, XM_017009123.2:c.900T>G, XM_017009123.1:c.900T>A, XM_017009123.1:c.900T>G, XM_011513985.3:c.900T>A, XM_011513985.3:c.900T>G, XM_011513985.2:c.900T>A, XM_011513985.2:c.900T>G, XM_011513985.1:c.900T>A, XM_011513985.1:c.900T>G, NM_001317949.2:c.927T>A, NM_001317949.2:c.927T>G, NM_001317949.1:c.927T>A, NM_001317949.1:c.927T>G, XM_047416824.1:c.900T>A, XM_047416824.1:c.900T>G, XM_047416825.1:c.*1705T>A, XM_047416825.1:c.*1705T>G, XM_047416826.1:c.*1705T>A, XM_047416826.1:c.*1705T>G, NM_001386171.1:c.927T>A, NM_001386171.1:c.927T>G, NR_169876.1:n.870T>A, NR_169876.1:n.870T>G, NR_169875.1:n.796T>A, NR_169875.1:n.796T>G, NM_001386170.1:c.900T>A, NM_001386170.1:c.900T>G, XR_007058729.1:n.497A>T, XR_007058729.1:n.497A>C, NM_001386169.1:c.900T>A, NM_001386169.1:c.900T>G, NR_169874.1:n.983T>A, NR_169874.1:n.983T>G, NM_001386172.1:c.900T>A, NM_001386172.1:c.900T>G, XP_011512286.1:p.Ser300Arg, XP_011512286.1:p.Ser300Arg, NP_653326.3:p.Ser300Arg, NP_653326.3:p.Ser300Arg, XP_016864608.1:p.Ser309Arg, XP_016864608.1:p.Ser309Arg, XP_016864611.1:p.Ser300Arg, XP_016864611.1:p.Ser300Arg, XP_016864609.1:p.Ser300Arg, XP_016864609.1:p.Ser300Arg, XP_016864610.1:p.Ser300Arg, XP_016864610.1:p.Ser300Arg, XP_016864613.1:p.Ser204Arg, XP_016864613.1:p.Ser204Arg, XP_016864615.1:p.Ser184Arg, XP_016864615.1:p.Ser184Arg, XP_016864612.1:p.Ser300Arg, XP_016864612.1:p.Ser300Arg, XP_011512287.1:p.Ser300Arg, XP_011512287.1:p.Ser300Arg, NP_001304878.1:p.Ser309Arg, NP_001304878.1:p.Ser309Arg, XP_047272780.1:p.Ser300Arg, XP_047272780.1:p.Ser300Arg, NP_001373100.1:p.Ser309Arg, NP_001373100.1:p.Ser309Arg, NP_001373099.1:p.Ser300Arg, NP_001373099.1:p.Ser300Arg, NP_001373098.1:p.Ser300Arg, NP_001373098.1:p.Ser300Arg, NP_001373101.1:p.Ser300Arg, NP_001373101.1:p.Ser300Arg

Select item 14636266132.

rs1463626613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:34864444 (GRCh38)
5:34864549 (GRCh37)
Canonical SPDI:: NC_000005.10:34864443:G:T
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34864444G>T, NC_000005.9:g.34864549G>T, XM_011513987.4:c.544G>T, XM_011513987.3:c.544G>T, XM_011513987.2:c.544G>T, XM_011513987.1:c.544G>T, XM_011513984.4:c.544G>T, XM_011513984.3:c.544G>T, XM_011513984.2:c.544G>T, XM_011513984.1:c.544G>T, NM_144725.4:c.544G>T, NM_144725.3:c.544G>T, XM_017009119.3:c.571G>T, XM_017009119.2:c.571G>T, XM_017009119.1:c.571G>T, XM_017009122.3:c.544G>T, XM_017009122.2:c.544G>T, XM_017009122.1:c.544G>T, XM_017009120.3:c.544G>T, XM_017009120.2:c.544G>T, XM_017009120.1:c.544G>T, XM_017009121.3:c.544G>T, XM_017009121.2:c.544G>T, XM_017009121.1:c.544G>T, XM_017009124.3:c.256G>T, XM_017009124.2:c.256G>T, XM_017009124.1:c.256G>T, XM_017009126.3:c.196G>T, XM_017009126.2:c.196G>T, XM_017009126.1:c.196G>T, XM_017009123.3:c.544G>T, XM_017009123.2:c.544G>T, XM_017009123.1:c.544G>T, XM_011513985.3:c.544G>T, XM_011513985.2:c.544G>T, XM_011513985.1:c.544G>T, NM_001317949.2:c.571G>T, NM_001317949.1:c.571G>T, XM_047416824.1:c.544G>T, XM_047416825.1:c.571G>T, XM_047416826.1:c.544G>T, NM_001386171.1:c.571G>T, NR_169876.1:n.514G>T, NR_169875.1:n.440G>T, NM_001386170.1:c.544G>T, NM_001386169.1:c.544G>T, NR_169874.1:n.627G>T, NM_001386172.1:c.544G>T, XP_011512289.1:p.Glu182Ter, XP_011512286.1:p.Glu182Ter, NP_653326.3:p.Glu182Ter, XP_016864608.1:p.Glu191Ter, XP_016864611.1:p.Glu182Ter, XP_016864609.1:p.Glu182Ter, XP_016864610.1:p.Glu182Ter, XP_016864613.1:p.Glu86Ter, XP_016864615.1:p.Glu66Ter, XP_016864612.1:p.Glu182Ter, XP_011512287.1:p.Glu182Ter, NP_001304878.1:p.Glu191Ter, XP_047272780.1:p.Glu182Ter, XP_047272781.1:p.Glu191Ter, XP_047272782.1:p.Glu182Ter, NP_001373100.1:p.Glu191Ter, NP_001373099.1:p.Glu182Ter, NP_001373098.1:p.Glu182Ter, NP_001373101.1:p.Glu182Ter

Select item 14626800653.

rs1462680065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:34867026 (GRCh38)
5:34867131 (GRCh37)
Canonical SPDI:: NC_000005.10:34867025:A:G
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.34867026A>G, NC_000005.9:g.34867131A>G, NG_083668.1:g.539A>G, XM_011513987.4:c.797A>G, XM_011513987.3:c.797A>G, XM_011513987.2:c.797A>G, XM_011513987.1:c.797A>G, XM_011513984.4:c.797A>G, XM_011513984.3:c.797A>G, XM_011513984.2:c.797A>G, XM_011513984.1:c.797A>G, NM_144725.4:c.797A>G, NM_144725.3:c.797A>G, XM_017009119.3:c.824A>G, XM_017009119.2:c.824A>G, XM_017009119.1:c.824A>G, XM_017009122.3:c.797A>G, XM_017009122.2:c.797A>G, XM_017009122.1:c.797A>G, XM_017009120.3:c.797A>G, XM_017009120.2:c.797A>G, XM_017009120.1:c.797A>G, XM_017009121.3:c.797A>G, XM_017009121.2:c.797A>G, XM_017009121.1:c.797A>G, XM_017009124.3:c.509A>G, XM_017009124.2:c.509A>G, XM_017009124.1:c.509A>G, XM_017009126.3:c.449A>G, XM_017009126.2:c.449A>G, XM_017009126.1:c.449A>G, XM_017009123.3:c.797A>G, XM_017009123.2:c.797A>G, XM_017009123.1:c.797A>G, XM_011513985.3:c.797A>G, XM_011513985.2:c.797A>G, XM_011513985.1:c.797A>G, NM_001317949.2:c.824A>G, NM_001317949.1:c.824A>G, XM_047416824.1:c.797A>G, XM_047416825.1:c.824A>G, XM_047416826.1:c.797A>G, NM_001386171.1:c.824A>G, NR_169876.1:n.767A>G, NR_169875.1:n.693A>G, NM_001386170.1:c.797A>G, NM_001386169.1:c.797A>G, NR_169874.1:n.880A>G, NM_001386172.1:c.797A>G, XP_011512289.1:p.Gln266Arg, XP_011512286.1:p.Gln266Arg, NP_653326.3:p.Gln266Arg, XP_016864608.1:p.Gln275Arg, XP_016864611.1:p.Gln266Arg, XP_016864609.1:p.Gln266Arg, XP_016864610.1:p.Gln266Arg, XP_016864613.1:p.Gln170Arg, XP_016864615.1:p.Gln150Arg, XP_016864612.1:p.Gln266Arg, XP_011512287.1:p.Gln266Arg, NP_001304878.1:p.Gln275Arg, XP_047272780.1:p.Gln266Arg, XP_047272781.1:p.Gln275Arg, XP_047272782.1:p.Gln266Arg, NP_001373100.1:p.Gln275Arg, NP_001373099.1:p.Gln266Arg, NP_001373098.1:p.Gln266Arg, NP_001373101.1:p.Gln266Arg

Select item 14569871084.

rs1456987108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:34866999 (GRCh38)
5:34867104 (GRCh37)
Canonical SPDI:: NC_000005.10:34866998:T:C,NC_000005.10:34866998:T:G
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.34866999T>C, NC_000005.10:g.34866999T>G, NC_000005.9:g.34867104T>C, NC_000005.9:g.34867104T>G, NG_083668.1:g.512T>C, NG_083668.1:g.512T>G, XM_011513987.4:c.770T>C, XM_011513987.4:c.770T>G, XM_011513987.3:c.770T>C, XM_011513987.3:c.770T>G, XM_011513987.2:c.770T>C, XM_011513987.2:c.770T>G, XM_011513987.1:c.770T>C, XM_011513987.1:c.770T>G, XM_011513984.4:c.770T>C, XM_011513984.4:c.770T>G, XM_011513984.3:c.770T>C, XM_011513984.3:c.770T>G, XM_011513984.2:c.770T>C, XM_011513984.2:c.770T>G, XM_011513984.1:c.770T>C, XM_011513984.1:c.770T>G, NM_144725.4:c.770T>C, NM_144725.4:c.770T>G, NM_144725.3:c.770T>C, NM_144725.3:c.770T>G, XM_017009119.3:c.797T>C, XM_017009119.3:c.797T>G, XM_017009119.2:c.797T>C, XM_017009119.2:c.797T>G, XM_017009119.1:c.797T>C, XM_017009119.1:c.797T>G, XM_017009122.3:c.770T>C, XM_017009122.3:c.770T>G, XM_017009122.2:c.770T>C, XM_017009122.2:c.770T>G, XM_017009122.1:c.770T>C, XM_017009122.1:c.770T>G, XM_017009120.3:c.770T>C, XM_017009120.3:c.770T>G, XM_017009120.2:c.770T>C, XM_017009120.2:c.770T>G, XM_017009120.1:c.770T>C, XM_017009120.1:c.770T>G, XM_017009121.3:c.770T>C, XM_017009121.3:c.770T>G, XM_017009121.2:c.770T>C, XM_017009121.2:c.770T>G, XM_017009121.1:c.770T>C, XM_017009121.1:c.770T>G, XM_017009124.3:c.482T>C, XM_017009124.3:c.482T>G, XM_017009124.2:c.482T>C, XM_017009124.2:c.482T>G, XM_017009124.1:c.482T>C, XM_017009124.1:c.482T>G, XM_017009126.3:c.422T>C, XM_017009126.3:c.422T>G, XM_017009126.2:c.422T>C, XM_017009126.2:c.422T>G, XM_017009126.1:c.422T>C, XM_017009126.1:c.422T>G, XM_017009123.3:c.770T>C, XM_017009123.3:c.770T>G, XM_017009123.2:c.770T>C, XM_017009123.2:c.770T>G, XM_017009123.1:c.770T>C, XM_017009123.1:c.770T>G, XM_011513985.3:c.770T>C, XM_011513985.3:c.770T>G, XM_011513985.2:c.770T>C, XM_011513985.2:c.770T>G, XM_011513985.1:c.770T>C, XM_011513985.1:c.770T>G, NM_001317949.2:c.797T>C, NM_001317949.2:c.797T>G, NM_001317949.1:c.797T>C, NM_001317949.1:c.797T>G, XM_047416824.1:c.770T>C, XM_047416824.1:c.770T>G, XM_047416825.1:c.797T>C, XM_047416825.1:c.797T>G, XM_047416826.1:c.770T>C, XM_047416826.1:c.770T>G, NM_001386171.1:c.797T>C, NM_001386171.1:c.797T>G, NR_169876.1:n.740T>C, NR_169876.1:n.740T>G, NR_169875.1:n.666T>C, NR_169875.1:n.666T>G, NM_001386170.1:c.770T>C, NM_001386170.1:c.770T>G, NM_001386169.1:c.770T>C, NM_001386169.1:c.770T>G, NR_169874.1:n.853T>C, NR_169874.1:n.853T>G, NM_001386172.1:c.770T>C, NM_001386172.1:c.770T>G, XP_011512289.1:p.Leu257Pro, XP_011512289.1:p.Leu257Arg, XP_011512286.1:p.Leu257Pro, XP_011512286.1:p.Leu257Arg, NP_653326.3:p.Leu257Pro, NP_653326.3:p.Leu257Arg, XP_016864608.1:p.Leu266Pro, XP_016864608.1:p.Leu266Arg, XP_016864611.1:p.Leu257Pro, XP_016864611.1:p.Leu257Arg, XP_016864609.1:p.Leu257Pro, XP_016864609.1:p.Leu257Arg, XP_016864610.1:p.Leu257Pro, XP_016864610.1:p.Leu257Arg, XP_016864613.1:p.Leu161Pro, XP_016864613.1:p.Leu161Arg, XP_016864615.1:p.Leu141Pro, XP_016864615.1:p.Leu141Arg, XP_016864612.1:p.Leu257Pro, XP_016864612.1:p.Leu257Arg, XP_011512287.1:p.Leu257Pro, XP_011512287.1:p.Leu257Arg, NP_001304878.1:p.Leu266Pro, NP_001304878.1:p.Leu266Arg, XP_047272780.1:p.Leu257Pro, XP_047272780.1:p.Leu257Arg, XP_047272781.1:p.Leu266Pro, XP_047272781.1:p.Leu266Arg, XP_047272782.1:p.Leu257Pro, XP_047272782.1:p.Leu257Arg, NP_001373100.1:p.Leu266Pro, NP_001373100.1:p.Leu266Arg, NP_001373099.1:p.Leu257Pro, NP_001373099.1:p.Leu257Arg, NP_001373098.1:p.Leu257Pro, NP_001373098.1:p.Leu257Arg, NP_001373101.1:p.Leu257Pro, NP_001373101.1:p.Leu257Arg

Select item 14564250155.

rs1456425015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:34839644 (GRCh38)
5:34839749 (GRCh37)
Canonical SPDI:: NC_000005.10:34839643:C:G
Gene:: TTC23L (Varview), TTC23L-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,missense_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_000005.10:g.34839644C>G, NC_000005.9:g.34839749C>G, XM_017009119.3:c.10C>G, XM_017009119.2:c.10C>G, XM_017009119.1:c.10C>G, XM_017009124.3:c.6C>G, XM_017009124.2:c.6C>G, XM_017009124.1:c.6C>G, NM_001317949.2:c.10C>G, NM_001317949.1:c.10C>G, XM_047416825.1:c.10C>G, NM_001386171.1:c.10C>G, NR_169876.1:n.264C>G, XP_016864608.1:p.Leu4Val, NP_001304878.1:p.Leu4Val, XP_047272781.1:p.Leu4Val, NP_001373100.1:p.Leu4Val

Select item 14548164856.

rs1454816485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:34866959 (GRCh38)
5:34867064 (GRCh37)
Canonical SPDI:: NC_000005.10:34866958:A:T
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34866959A>T, NC_000005.9:g.34867064A>T, NG_083668.1:g.472A>T, XM_011513987.4:c.730A>T, XM_011513987.3:c.730A>T, XM_011513987.2:c.730A>T, XM_011513987.1:c.730A>T, XM_011513984.4:c.730A>T, XM_011513984.3:c.730A>T, XM_011513984.2:c.730A>T, XM_011513984.1:c.730A>T, NM_144725.4:c.730A>T, NM_144725.3:c.730A>T, XM_017009119.3:c.757A>T, XM_017009119.2:c.757A>T, XM_017009119.1:c.757A>T, XM_017009122.3:c.730A>T, XM_017009122.2:c.730A>T, XM_017009122.1:c.730A>T, XM_017009120.3:c.730A>T, XM_017009120.2:c.730A>T, XM_017009120.1:c.730A>T, XM_017009121.3:c.730A>T, XM_017009121.2:c.730A>T, XM_017009121.1:c.730A>T, XM_017009124.3:c.442A>T, XM_017009124.2:c.442A>T, XM_017009124.1:c.442A>T, XM_017009126.3:c.382A>T, XM_017009126.2:c.382A>T, XM_017009126.1:c.382A>T, XM_017009123.3:c.730A>T, XM_017009123.2:c.730A>T, XM_017009123.1:c.730A>T, XM_011513985.3:c.730A>T, XM_011513985.2:c.730A>T, XM_011513985.1:c.730A>T, NM_001317949.2:c.757A>T, NM_001317949.1:c.757A>T, XM_047416824.1:c.730A>T, XM_047416825.1:c.757A>T, XM_047416826.1:c.730A>T, NM_001386171.1:c.757A>T, NR_169876.1:n.700A>T, NR_169875.1:n.626A>T, NM_001386170.1:c.730A>T, NM_001386169.1:c.730A>T, NR_169874.1:n.813A>T, NM_001386172.1:c.730A>T, XP_011512289.1:p.Ile244Phe, XP_011512286.1:p.Ile244Phe, NP_653326.3:p.Ile244Phe, XP_016864608.1:p.Ile253Phe, XP_016864611.1:p.Ile244Phe, XP_016864609.1:p.Ile244Phe, XP_016864610.1:p.Ile244Phe, XP_016864613.1:p.Ile148Phe, XP_016864615.1:p.Ile128Phe, XP_016864612.1:p.Ile244Phe, XP_011512287.1:p.Ile244Phe, NP_001304878.1:p.Ile253Phe, XP_047272780.1:p.Ile244Phe, XP_047272781.1:p.Ile253Phe, XP_047272782.1:p.Ile244Phe, NP_001373100.1:p.Ile253Phe, NP_001373099.1:p.Ile244Phe, NP_001373098.1:p.Ile244Phe, NP_001373101.1:p.Ile244Phe

Select item 14464362817.

rs1446436281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:34863013 (GRCh38)
5:34863118 (GRCh37)
Canonical SPDI:: NC_000005.10:34863012:G:A
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.34863013G>A, NC_000005.9:g.34863118G>A, XM_011513987.4:c.495G>A, XM_011513987.3:c.495G>A, XM_011513987.2:c.495G>A, XM_011513987.1:c.495G>A, XM_011513984.4:c.495G>A, XM_011513984.3:c.495G>A, XM_011513984.2:c.495G>A, XM_011513984.1:c.495G>A, NM_144725.4:c.495G>A, NM_144725.3:c.495G>A, XM_017009119.3:c.522G>A, XM_017009119.2:c.522G>A, XM_017009119.1:c.522G>A, XM_017009122.3:c.495G>A, XM_017009122.2:c.495G>A, XM_017009122.1:c.495G>A, XM_017009120.3:c.495G>A, XM_017009120.2:c.495G>A, XM_017009120.1:c.495G>A, XM_017009121.3:c.495G>A, XM_017009121.2:c.495G>A, XM_017009121.1:c.495G>A, XM_017009124.3:c.207G>A, XM_017009124.2:c.207G>A, XM_017009124.1:c.207G>A, XM_017009126.3:c.147G>A, XM_017009126.2:c.147G>A, XM_017009126.1:c.147G>A, XM_017009123.3:c.495G>A, XM_017009123.2:c.495G>A, XM_017009123.1:c.495G>A, XM_011513985.3:c.495G>A, XM_011513985.2:c.495G>A, XM_011513985.1:c.495G>A, NM_001317949.2:c.522G>A, NM_001317949.1:c.522G>A, XM_047416824.1:c.495G>A, XM_047416825.1:c.522G>A, XM_047416826.1:c.495G>A, NM_001386171.1:c.522G>A, NR_169876.1:n.465G>A, NR_169875.1:n.391G>A, NM_001386170.1:c.495G>A, NM_001386169.1:c.495G>A, NR_169874.1:n.578G>A, NM_001386172.1:c.495G>A

Select item 14448018918.

rs1444801891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:34880215 (GRCh38)
5:34880320 (GRCh37)
Canonical SPDI:: NC_000005.10:34880214:T:C
Gene:: TTC23L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34880215T>C, NC_000005.9:g.34880320T>C, XM_011513984.4:c.984T>C, XM_011513984.3:c.984T>C, XM_011513984.2:c.984T>C, XM_011513984.1:c.984T>C, NM_144725.4:c.984T>C, NM_144725.3:c.984T>C, XM_017009119.3:c.1011T>C, XM_017009119.2:c.1011T>C, XM_017009119.1:c.1011T>C, XM_017009122.3:c.984T>C, XM_017009122.2:c.984T>C, XM_017009122.1:c.984T>C, XM_017009120.3:c.984T>C, XM_017009120.2:c.984T>C, XM_017009120.1:c.984T>C, XM_017009121.3:c.984T>C, XM_017009121.2:c.984T>C, XM_017009121.1:c.984T>C, XM_017009124.3:c.696T>C, XM_017009124.2:c.696T>C, XM_017009124.1:c.696T>C, XM_017009126.3:c.636T>C, XM_017009126.2:c.636T>C, XM_017009126.1:c.636T>C, XM_011513985.3:c.984T>C, XM_011513985.2:c.984T>C, XM_011513985.1:c.984T>C, NM_001317949.2:c.1011T>C, NM_001317949.1:c.1011T>C, XM_047416824.1:c.984T>C, NM_001386171.1:c.1011T>C, NR_169876.1:n.954T>C, NR_169875.1:n.880T>C, NM_001386170.1:c.984T>C, NM_001386169.1:c.984T>C, NR_169874.1:n.1067T>C, NM_001386172.1:c.984T>C

Select item 14396195809.

rs1439619580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:34896796 (GRCh38)
5:34896901 (GRCh37)
Canonical SPDI:: NC_000005.10:34896795:G:A
Gene:: TTC23L (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,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_000005.10:g.34896796G>A, NC_000005.9:g.34896901G>A, XM_011513984.4:c.1187G>A, XM_011513984.3:c.1187G>A, XM_011513984.2:c.1187G>A, XM_011513984.1:c.1187G>A, NM_144725.4:c.*18G>A, NM_144725.3:c.*18G>A, XM_017009119.3:c.1214G>A, XM_017009119.2:c.1214G>A, XM_017009119.1:c.1214G>A, XM_017009122.3:c.1187G>A, XM_017009122.2:c.1187G>A, XM_017009122.1:c.1187G>A, XM_017009120.3:c.1187G>A, XM_017009120.2:c.1187G>A, XM_017009120.1:c.1187G>A, XM_017009121.3:c.1187G>A, XM_017009121.2:c.1187G>A, XM_017009121.1:c.1187G>A, XM_017009124.3:c.899G>A, XM_017009124.2:c.899G>A, XM_017009124.1:c.899G>A, XM_017009126.3:c.839G>A, XM_017009126.2:c.839G>A, XM_017009126.1:c.839G>A, NM_001317949.2:c.*18G>A, NM_001317949.1:c.*18G>A, XM_047416824.1:c.1187G>A, NR_169874.1:n.1187G>A, NM_001386172.1:c.*18G>A, XP_011512286.1:p.Arg396Lys, XP_016864608.1:p.Arg405Lys, XP_016864611.1:p.Arg396Lys, XP_016864609.1:p.Arg396Lys, XP_016864610.1:p.Arg396Lys, XP_016864613.1:p.Arg300Lys, XP_016864615.1:p.Arg280Lys, XP_047272780.1:p.Arg396Lys

Select item 143798733110.

rs1437987331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:34862980 (GRCh38)
5:34863085 (GRCh37)
Canonical SPDI:: NC_000005.10:34862979:G:A,NC_000005.10:34862979:G:T
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.34862980G>A, NC_000005.10:g.34862980G>T, NC_000005.9:g.34863085G>A, NC_000005.9:g.34863085G>T, XM_011513987.4:c.462G>A, XM_011513987.4:c.462G>T, XM_011513987.3:c.462G>A, XM_011513987.3:c.462G>T, XM_011513987.2:c.462G>A, XM_011513987.2:c.462G>T, XM_011513987.1:c.462G>A, XM_011513987.1:c.462G>T, XM_011513984.4:c.462G>A, XM_011513984.4:c.462G>T, XM_011513984.3:c.462G>A, XM_011513984.3:c.462G>T, XM_011513984.2:c.462G>A, XM_011513984.2:c.462G>T, XM_011513984.1:c.462G>A, XM_011513984.1:c.462G>T, NM_144725.4:c.462G>A, NM_144725.4:c.462G>T, NM_144725.3:c.462G>A, NM_144725.3:c.462G>T, XM_017009119.3:c.489G>A, XM_017009119.3:c.489G>T, XM_017009119.2:c.489G>A, XM_017009119.2:c.489G>T, XM_017009119.1:c.489G>A, XM_017009119.1:c.489G>T, XM_017009122.3:c.462G>A, XM_017009122.3:c.462G>T, XM_017009122.2:c.462G>A, XM_017009122.2:c.462G>T, XM_017009122.1:c.462G>A, XM_017009122.1:c.462G>T, XM_017009120.3:c.462G>A, XM_017009120.3:c.462G>T, XM_017009120.2:c.462G>A, XM_017009120.2:c.462G>T, XM_017009120.1:c.462G>A, XM_017009120.1:c.462G>T, XM_017009121.3:c.462G>A, XM_017009121.3:c.462G>T, XM_017009121.2:c.462G>A, XM_017009121.2:c.462G>T, XM_017009121.1:c.462G>A, XM_017009121.1:c.462G>T, XM_017009124.3:c.174G>A, XM_017009124.3:c.174G>T, XM_017009124.2:c.174G>A, XM_017009124.2:c.174G>T, XM_017009124.1:c.174G>A, XM_017009124.1:c.174G>T, XM_017009126.3:c.114G>A, XM_017009126.3:c.114G>T, XM_017009126.2:c.114G>A, XM_017009126.2:c.114G>T, XM_017009126.1:c.114G>A, XM_017009126.1:c.114G>T, XM_017009123.3:c.462G>A, XM_017009123.3:c.462G>T, XM_017009123.2:c.462G>A, XM_017009123.2:c.462G>T, XM_017009123.1:c.462G>A, XM_017009123.1:c.462G>T, XM_011513985.3:c.462G>A, XM_011513985.3:c.462G>T, XM_011513985.2:c.462G>A, XM_011513985.2:c.462G>T, XM_011513985.1:c.462G>A, XM_011513985.1:c.462G>T, NM_001317949.2:c.489G>A, NM_001317949.2:c.489G>T, NM_001317949.1:c.489G>A, NM_001317949.1:c.489G>T, XM_047416824.1:c.462G>A, XM_047416824.1:c.462G>T, XM_047416825.1:c.489G>A, XM_047416825.1:c.489G>T, XM_047416826.1:c.462G>A, XM_047416826.1:c.462G>T, NM_001386171.1:c.489G>A, NM_001386171.1:c.489G>T, NR_169876.1:n.432G>A, NR_169876.1:n.432G>T, NR_169875.1:n.358G>A, NR_169875.1:n.358G>T, NM_001386170.1:c.462G>A, NM_001386170.1:c.462G>T, NM_001386169.1:c.462G>A, NM_001386169.1:c.462G>T, NR_169874.1:n.545G>A, NR_169874.1:n.545G>T, NM_001386172.1:c.462G>A, NM_001386172.1:c.462G>T, XP_011512289.1:p.Lys154Asn, XP_011512286.1:p.Lys154Asn, NP_653326.3:p.Lys154Asn, XP_016864608.1:p.Lys163Asn, XP_016864611.1:p.Lys154Asn, XP_016864609.1:p.Lys154Asn, XP_016864610.1:p.Lys154Asn, XP_016864613.1:p.Lys58Asn, XP_016864615.1:p.Lys38Asn, XP_016864612.1:p.Lys154Asn, XP_011512287.1:p.Lys154Asn, NP_001304878.1:p.Lys163Asn, XP_047272780.1:p.Lys154Asn, XP_047272781.1:p.Lys163Asn, XP_047272782.1:p.Lys154Asn, NP_001373100.1:p.Lys163Asn, NP_001373099.1:p.Lys154Asn, NP_001373098.1:p.Lys154Asn, NP_001373101.1:p.Lys154Asn

Select item 143143336211.

rs1431433362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:34867005 (GRCh38)
5:34867110 (GRCh37)
Canonical SPDI:: NC_000005.10:34867004:A:G
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.34867005A>G, NC_000005.9:g.34867110A>G, NG_083668.1:g.518A>G, XM_011513987.4:c.776A>G, XM_011513987.3:c.776A>G, XM_011513987.2:c.776A>G, XM_011513987.1:c.776A>G, XM_011513984.4:c.776A>G, XM_011513984.3:c.776A>G, XM_011513984.2:c.776A>G, XM_011513984.1:c.776A>G, NM_144725.4:c.776A>G, NM_144725.3:c.776A>G, XM_017009119.3:c.803A>G, XM_017009119.2:c.803A>G, XM_017009119.1:c.803A>G, XM_017009122.3:c.776A>G, XM_017009122.2:c.776A>G, XM_017009122.1:c.776A>G, XM_017009120.3:c.776A>G, XM_017009120.2:c.776A>G, XM_017009120.1:c.776A>G, XM_017009121.3:c.776A>G, XM_017009121.2:c.776A>G, XM_017009121.1:c.776A>G, XM_017009124.3:c.488A>G, XM_017009124.2:c.488A>G, XM_017009124.1:c.488A>G, XM_017009126.3:c.428A>G, XM_017009126.2:c.428A>G, XM_017009126.1:c.428A>G, XM_017009123.3:c.776A>G, XM_017009123.2:c.776A>G, XM_017009123.1:c.776A>G, XM_011513985.3:c.776A>G, XM_011513985.2:c.776A>G, XM_011513985.1:c.776A>G, NM_001317949.2:c.803A>G, NM_001317949.1:c.803A>G, XM_047416824.1:c.776A>G, XM_047416825.1:c.803A>G, XM_047416826.1:c.776A>G, NM_001386171.1:c.803A>G, NR_169876.1:n.746A>G, NR_169875.1:n.672A>G, NM_001386170.1:c.776A>G, NM_001386169.1:c.776A>G, NR_169874.1:n.859A>G, NM_001386172.1:c.776A>G, XP_011512289.1:p.Glu259Gly, XP_011512286.1:p.Glu259Gly, NP_653326.3:p.Glu259Gly, XP_016864608.1:p.Glu268Gly, XP_016864611.1:p.Glu259Gly, XP_016864609.1:p.Glu259Gly, XP_016864610.1:p.Glu259Gly, XP_016864613.1:p.Glu163Gly, XP_016864615.1:p.Glu143Gly, XP_016864612.1:p.Glu259Gly, XP_011512287.1:p.Glu259Gly, NP_001304878.1:p.Glu268Gly, XP_047272780.1:p.Glu259Gly, XP_047272781.1:p.Glu268Gly, XP_047272782.1:p.Glu259Gly, NP_001373100.1:p.Glu268Gly, NP_001373099.1:p.Glu259Gly, NP_001373098.1:p.Glu259Gly, NP_001373101.1:p.Glu259Gly

Select item 142015644712.

rs1420156447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:34896850 (GRCh38)
5:34896955 (GRCh37)
Canonical SPDI:: NC_000005.10:34896849:G:A
Gene:: TTC23L (Varview)
Functional Consequence:: terminator_codon_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.34896850G>A, NC_000005.9:g.34896955G>A, XM_011513984.4:c.1241G>A, XM_011513984.3:c.1241G>A, XM_011513984.2:c.1241G>A, XM_011513984.1:c.1241G>A, NM_144725.4:c.*72G>A, NM_144725.3:c.*72G>A, XM_017009119.3:c.1268G>A, XM_017009119.2:c.1268G>A, XM_017009119.1:c.1268G>A, XM_017009122.3:c.1241G>A, XM_017009122.2:c.1241G>A, XM_017009122.1:c.1241G>A, XM_017009120.3:c.1241G>A, XM_017009120.2:c.1241G>A, XM_017009120.1:c.1241G>A, XM_017009121.3:c.1241G>A, XM_017009121.2:c.1241G>A, XM_017009121.1:c.1241G>A, XM_017009124.3:c.953G>A, XM_017009124.2:c.953G>A, XM_017009124.1:c.953G>A, XM_017009126.3:c.893G>A, XM_017009126.2:c.893G>A, XM_017009126.1:c.893G>A, NM_001317949.2:c.*72G>A, NM_001317949.1:c.*72G>A, XM_047416824.1:c.1241G>A, NR_169874.1:n.1241G>A, NM_001386172.1:c.*72G>A

Select item 141606354913.

rs1416063549 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACATAC [Show Flanks]
Chromosome:: 5:34896825 (GRCh38)
5:34896931 (GRCh37)
Canonical SPDI:: NC_000005.10:34896825:CTACATAC:CTACATACTACATAC
Gene:: TTC23L (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTACATACTACATAC=0./0 (ALFA)
CTACATA=0.000007/1 (GnomAD)
CTACATA=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.34896827_34896833dup, NC_000005.9:g.34896932_34896938dup, XM_011513984.4:c.1218_1224dup, XM_011513984.3:c.1218_1224dup, XM_011513984.2:c.1218_1224dup, XM_011513984.1:c.1218_1224dup, NM_144725.4:c.*49_*55dup, NM_144725.3:c.*49_*55dup, XM_017009119.3:c.1245_1251dup, XM_017009119.2:c.1245_1251dup, XM_017009119.1:c.1245_1251dup, XM_017009122.3:c.1218_1224dup, XM_017009122.2:c.1218_1224dup, XM_017009122.1:c.1218_1224dup, XM_017009120.3:c.1218_1224dup, XM_017009120.2:c.1218_1224dup, XM_017009120.1:c.1218_1224dup, XM_017009121.3:c.1218_1224dup, XM_017009121.2:c.1218_1224dup, XM_017009121.1:c.1218_1224dup, XM_017009124.3:c.930_936dup, XM_017009124.2:c.930_936dup, XM_017009124.1:c.930_936dup, XM_017009126.3:c.870_876dup, XM_017009126.2:c.870_876dup, XM_017009126.1:c.870_876dup, NM_001317949.2:c.*49_*55dup, NM_001317949.1:c.*49_*55dup, XM_047416824.1:c.1218_1224dup, NR_169874.1:n.1218_1224dup, NM_001386172.1:c.*49_*55dup, XP_011512286.1:p.Lys409fs, XP_016864608.1:p.Lys418fs, XP_016864611.1:p.Lys409fs, XP_016864609.1:p.Lys409fs, XP_016864610.1:p.Lys409fs, XP_016864613.1:p.Lys313fs, XP_016864615.1:p.Lys293fs, XP_047272780.1:p.Lys409fs

Select item 140785853814.

rs1407858538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:34868976 (GRCh38)
5:34869081 (GRCh37)
Canonical SPDI:: NC_000005.10:34868975:C:T
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000005.10:g.34868976C>T, NC_000005.9:g.34869081C>T, XM_011513987.4:c.*1717C>T, XM_011513987.2:c.*1717C>T, XM_011513984.4:c.912C>T, XM_011513984.3:c.912C>T, XM_011513984.2:c.912C>T, XM_011513984.1:c.912C>T, NM_144725.4:c.912C>T, NM_144725.3:c.912C>T, XM_017009119.3:c.939C>T, XM_017009119.2:c.939C>T, XM_017009119.1:c.939C>T, XM_017009122.3:c.912C>T, XM_017009122.2:c.912C>T, XM_017009122.1:c.912C>T, XM_017009120.3:c.912C>T, XM_017009120.2:c.912C>T, XM_017009120.1:c.912C>T, XM_017009121.3:c.912C>T, XM_017009121.2:c.912C>T, XM_017009121.1:c.912C>T, XM_017009124.3:c.624C>T, XM_017009124.2:c.624C>T, XM_017009124.1:c.624C>T, XM_017009126.3:c.564C>T, XM_017009126.2:c.564C>T, XM_017009126.1:c.564C>T, XM_017009123.3:c.912C>T, XM_017009123.2:c.912C>T, XM_017009123.1:c.912C>T, XM_011513985.3:c.912C>T, XM_011513985.2:c.912C>T, XM_011513985.1:c.912C>T, NM_001317949.2:c.939C>T, NM_001317949.1:c.939C>T, XM_047416824.1:c.912C>T, XM_047416825.1:c.*1717C>T, XM_047416826.1:c.*1717C>T, NM_001386171.1:c.939C>T, NR_169876.1:n.882C>T, NR_169875.1:n.808C>T, NM_001386170.1:c.912C>T, XR_007058729.1:n.485G>A, NM_001386169.1:c.912C>T, NR_169874.1:n.995C>T, NM_001386172.1:c.912C>T

Select item 140057733415.

rs1400577334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:34864481 (GRCh38)
5:34864586 (GRCh37)
Canonical SPDI:: NC_000005.10:34864480:T:C
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34864481T>C, NC_000005.9:g.34864586T>C, XM_011513987.4:c.581T>C, XM_011513987.3:c.581T>C, XM_011513987.2:c.581T>C, XM_011513987.1:c.581T>C, XM_011513984.4:c.581T>C, XM_011513984.3:c.581T>C, XM_011513984.2:c.581T>C, XM_011513984.1:c.581T>C, NM_144725.4:c.581T>C, NM_144725.3:c.581T>C, XM_017009119.3:c.608T>C, XM_017009119.2:c.608T>C, XM_017009119.1:c.608T>C, XM_017009122.3:c.581T>C, XM_017009122.2:c.581T>C, XM_017009122.1:c.581T>C, XM_017009120.3:c.581T>C, XM_017009120.2:c.581T>C, XM_017009120.1:c.581T>C, XM_017009121.3:c.581T>C, XM_017009121.2:c.581T>C, XM_017009121.1:c.581T>C, XM_017009124.3:c.293T>C, XM_017009124.2:c.293T>C, XM_017009124.1:c.293T>C, XM_017009126.3:c.233T>C, XM_017009126.2:c.233T>C, XM_017009126.1:c.233T>C, XM_017009123.3:c.581T>C, XM_017009123.2:c.581T>C, XM_017009123.1:c.581T>C, XM_011513985.3:c.581T>C, XM_011513985.2:c.581T>C, XM_011513985.1:c.581T>C, NM_001317949.2:c.608T>C, NM_001317949.1:c.608T>C, XM_047416824.1:c.581T>C, XM_047416825.1:c.608T>C, XM_047416826.1:c.581T>C, NM_001386171.1:c.608T>C, NR_169876.1:n.551T>C, NR_169875.1:n.477T>C, NM_001386170.1:c.581T>C, NM_001386169.1:c.581T>C, NR_169874.1:n.664T>C, NM_001386172.1:c.581T>C, XP_011512289.1:p.Met194Thr, XP_011512286.1:p.Met194Thr, NP_653326.3:p.Met194Thr, XP_016864608.1:p.Met203Thr, XP_016864611.1:p.Met194Thr, XP_016864609.1:p.Met194Thr, XP_016864610.1:p.Met194Thr, XP_016864613.1:p.Met98Thr, XP_016864615.1:p.Met78Thr, XP_016864612.1:p.Met194Thr, XP_011512287.1:p.Met194Thr, NP_001304878.1:p.Met203Thr, XP_047272780.1:p.Met194Thr, XP_047272781.1:p.Met203Thr, XP_047272782.1:p.Met194Thr, NP_001373100.1:p.Met203Thr, NP_001373099.1:p.Met194Thr, NP_001373098.1:p.Met194Thr, NP_001373101.1:p.Met194Thr

Select item 139899925716.

rs1398999257 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:34840724 (GRCh38)
5:34840829 (GRCh37)
Canonical SPDI:: NC_000005.10:34840723:A:T
Gene:: TTC23L (Varview), TTC23L-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.34840724A>T, NC_000005.9:g.34840829A>T, XM_011513987.4:c.53A>T, XM_011513987.3:c.53A>T, XM_011513987.2:c.53A>T, XM_011513987.1:c.53A>T, XM_011513984.4:c.53A>T, XM_011513984.3:c.53A>T, XM_011513984.2:c.53A>T, XM_011513984.1:c.53A>T, NM_144725.4:c.53A>T, NM_144725.3:c.53A>T, XM_017009119.3:c.80A>T, XM_017009119.2:c.80A>T, XM_017009119.1:c.80A>T, XM_017009122.3:c.53A>T, XM_017009122.2:c.53A>T, XM_017009122.1:c.53A>T, XM_017009120.3:c.53A>T, XM_017009120.2:c.53A>T, XM_017009120.1:c.53A>T, XM_017009121.3:c.53A>T, XM_017009121.2:c.53A>T, XM_017009121.1:c.53A>T, XM_017009124.3:c.76A>T, XM_017009124.2:c.76A>T, XM_017009124.1:c.76A>T, XM_017009126.3:c.16A>T, XM_017009126.2:c.16A>T, XM_017009126.1:c.16A>T, XM_017009123.3:c.53A>T, XM_017009123.2:c.53A>T, XM_017009123.1:c.53A>T, XM_011513985.3:c.53A>T, XM_011513985.2:c.53A>T, XM_011513985.1:c.53A>T, NM_001317949.2:c.80A>T, NM_001317949.1:c.80A>T, XM_047416824.1:c.53A>T, XM_047416825.1:c.80A>T, XM_047416826.1:c.53A>T, NM_001386171.1:c.80A>T, NR_169876.1:n.334A>T, NR_169875.1:n.260A>T, NM_001386170.1:c.53A>T, NM_001386169.1:c.53A>T, NR_169874.1:n.260A>T, NM_001386172.1:c.53A>T, XP_011512289.1:p.Asp18Val, XP_011512286.1:p.Asp18Val, NP_653326.3:p.Asp18Val, XP_016864608.1:p.Asp27Val, XP_016864611.1:p.Asp18Val, XP_016864609.1:p.Asp18Val, XP_016864610.1:p.Asp18Val, XP_016864613.1:p.Ile26Phe, XP_016864615.1:p.Ile6Phe, XP_016864612.1:p.Asp18Val, XP_011512287.1:p.Asp18Val, NP_001304878.1:p.Asp27Val, XP_047272780.1:p.Asp18Val, XP_047272781.1:p.Asp27Val, XP_047272782.1:p.Asp18Val, NP_001373100.1:p.Asp27Val, NP_001373099.1:p.Asp18Val, NP_001373098.1:p.Asp18Val, NP_001373101.1:p.Asp18Val

Select item 139300352117.

rs1393003521 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:34896785 (GRCh38)
5:34896891 (GRCh37)
Canonical SPDI:: NC_000005.10:34896785:T:TT
Gene:: TTC23L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.34896786dup, NC_000005.9:g.34896891dup, XM_011513984.4:c.1177dup, XM_011513984.3:c.1177dup, XM_011513984.2:c.1177dup, XM_011513984.1:c.1177dup, NM_144725.4:c.*8dup, NM_144725.3:c.*8dup, XM_017009119.3:c.1204dup, XM_017009119.2:c.1204dup, XM_017009119.1:c.1204dup, XM_017009122.3:c.1177dup, XM_017009122.2:c.1177dup, XM_017009122.1:c.1177dup, XM_017009120.3:c.1177dup, XM_017009120.2:c.1177dup, XM_017009120.1:c.1177dup, XM_017009121.3:c.1177dup, XM_017009121.2:c.1177dup, XM_017009121.1:c.1177dup, XM_017009124.3:c.889dup, XM_017009124.2:c.889dup, XM_017009124.1:c.889dup, XM_017009126.3:c.829dup, XM_017009126.2:c.829dup, XM_017009126.1:c.829dup, NM_001317949.2:c.*8dup, NM_001317949.1:c.*8dup, XM_047416824.1:c.1177dup, NR_169874.1:n.1177dup, NM_001386172.1:c.*8dup, XP_011512286.1:p.Ser393fs, XP_016864608.1:p.Ser402fs, XP_016864611.1:p.Ser393fs, XP_016864609.1:p.Ser393fs, XP_016864610.1:p.Ser393fs, XP_016864613.1:p.Ser297fs, XP_016864615.1:p.Ser277fs, XP_047272780.1:p.Ser393fs

Select item 138899114718.

rs1388991147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:34867044 (GRCh38)
5:34867149 (GRCh37)
Canonical SPDI:: NC_000005.10:34867043:A:G
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34867044A>G, NC_000005.9:g.34867149A>G, NG_083668.1:g.557A>G, XM_011513987.4:c.815A>G, XM_011513987.3:c.815A>G, XM_011513987.2:c.815A>G, XM_011513987.1:c.815A>G, XM_011513984.4:c.815A>G, XM_011513984.3:c.815A>G, XM_011513984.2:c.815A>G, XM_011513984.1:c.815A>G, NM_144725.4:c.815A>G, NM_144725.3:c.815A>G, XM_017009119.3:c.842A>G, XM_017009119.2:c.842A>G, XM_017009119.1:c.842A>G, XM_017009122.3:c.815A>G, XM_017009122.2:c.815A>G, XM_017009122.1:c.815A>G, XM_017009120.3:c.815A>G, XM_017009120.2:c.815A>G, XM_017009120.1:c.815A>G, XM_017009121.3:c.815A>G, XM_017009121.2:c.815A>G, XM_017009121.1:c.815A>G, XM_017009124.3:c.527A>G, XM_017009124.2:c.527A>G, XM_017009124.1:c.527A>G, XM_017009126.3:c.467A>G, XM_017009126.2:c.467A>G, XM_017009126.1:c.467A>G, XM_017009123.3:c.815A>G, XM_017009123.2:c.815A>G, XM_017009123.1:c.815A>G, XM_011513985.3:c.815A>G, XM_011513985.2:c.815A>G, XM_011513985.1:c.815A>G, NM_001317949.2:c.842A>G, NM_001317949.1:c.842A>G, XM_047416824.1:c.815A>G, XM_047416825.1:c.842A>G, XM_047416826.1:c.815A>G, NM_001386171.1:c.842A>G, NR_169876.1:n.785A>G, NR_169875.1:n.711A>G, NM_001386170.1:c.815A>G, NM_001386169.1:c.815A>G, NR_169874.1:n.898A>G, NM_001386172.1:c.815A>G, XP_011512289.1:p.Asn272Ser, XP_011512286.1:p.Asn272Ser, NP_653326.3:p.Asn272Ser, XP_016864608.1:p.Asn281Ser, XP_016864611.1:p.Asn272Ser, XP_016864609.1:p.Asn272Ser, XP_016864610.1:p.Asn272Ser, XP_016864613.1:p.Asn176Ser, XP_016864615.1:p.Asn156Ser, XP_016864612.1:p.Asn272Ser, XP_011512287.1:p.Asn272Ser, NP_001304878.1:p.Asn281Ser, XP_047272780.1:p.Asn272Ser, XP_047272781.1:p.Asn281Ser, XP_047272782.1:p.Asn272Ser, NP_001373100.1:p.Asn281Ser, NP_001373099.1:p.Asn272Ser, NP_001373098.1:p.Asn272Ser, NP_001373101.1:p.Asn272Ser

Select item 138675774719.

rs1386757747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:34867045 (GRCh38)
5:34867150 (GRCh37)
Canonical SPDI:: NC_000005.10:34867044:C:A
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000038/10 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000005.10:g.34867045C>A, NC_000005.9:g.34867150C>A, NG_083668.1:g.558C>A, XM_011513987.4:c.816C>A, XM_011513987.3:c.816C>A, XM_011513987.2:c.816C>A, XM_011513987.1:c.816C>A, XM_011513984.4:c.816C>A, XM_011513984.3:c.816C>A, XM_011513984.2:c.816C>A, XM_011513984.1:c.816C>A, NM_144725.4:c.816C>A, NM_144725.3:c.816C>A, XM_017009119.3:c.843C>A, XM_017009119.2:c.843C>A, XM_017009119.1:c.843C>A, XM_017009122.3:c.816C>A, XM_017009122.2:c.816C>A, XM_017009122.1:c.816C>A, XM_017009120.3:c.816C>A, XM_017009120.2:c.816C>A, XM_017009120.1:c.816C>A, XM_017009121.3:c.816C>A, XM_017009121.2:c.816C>A, XM_017009121.1:c.816C>A, XM_017009124.3:c.528C>A, XM_017009124.2:c.528C>A, XM_017009124.1:c.528C>A, XM_017009126.3:c.468C>A, XM_017009126.2:c.468C>A, XM_017009126.1:c.468C>A, XM_017009123.3:c.816C>A, XM_017009123.2:c.816C>A, XM_017009123.1:c.816C>A, XM_011513985.3:c.816C>A, XM_011513985.2:c.816C>A, XM_011513985.1:c.816C>A, NM_001317949.2:c.843C>A, NM_001317949.1:c.843C>A, XM_047416824.1:c.816C>A, XM_047416825.1:c.843C>A, XM_047416826.1:c.816C>A, NM_001386171.1:c.843C>A, NR_169876.1:n.786C>A, NR_169875.1:n.712C>A, NM_001386170.1:c.816C>A, NM_001386169.1:c.816C>A, NR_169874.1:n.899C>A, NM_001386172.1:c.816C>A, XP_011512289.1:p.Asn272Lys, XP_011512286.1:p.Asn272Lys, NP_653326.3:p.Asn272Lys, XP_016864608.1:p.Asn281Lys, XP_016864611.1:p.Asn272Lys, XP_016864609.1:p.Asn272Lys, XP_016864610.1:p.Asn272Lys, XP_016864613.1:p.Asn176Lys, XP_016864615.1:p.Asn156Lys, XP_016864612.1:p.Asn272Lys, XP_011512287.1:p.Asn272Lys, NP_001304878.1:p.Asn281Lys, XP_047272780.1:p.Asn272Lys, XP_047272781.1:p.Asn281Lys, XP_047272782.1:p.Asn272Lys, NP_001373100.1:p.Asn281Lys, NP_001373099.1:p.Asn272Lys, NP_001373098.1:p.Asn272Lys, NP_001373101.1:p.Asn272Lys

Select item 138598095520.

rs1385980955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:34869003 (GRCh38)
5:34869108 (GRCh37)
Canonical SPDI:: NC_000005.10:34869002:C:T
Gene:: TTC23L (Varview), LOC124900959 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000005.10:g.34869003C>T, NC_000005.9:g.34869108C>T, XM_011513987.4:c.*1744C>T, XM_011513987.2:c.*1744C>T, XM_011513984.4:c.939C>T, XM_011513984.3:c.939C>T, XM_011513984.2:c.939C>T, XM_011513984.1:c.939C>T, NM_144725.4:c.939C>T, NM_144725.3:c.939C>T, XM_017009119.3:c.966C>T, XM_017009119.2:c.966C>T, XM_017009119.1:c.966C>T, XM_017009122.3:c.939C>T, XM_017009122.2:c.939C>T, XM_017009122.1:c.939C>T, XM_017009120.3:c.939C>T, XM_017009120.2:c.939C>T, XM_017009120.1:c.939C>T, XM_017009121.3:c.939C>T, XM_017009121.2:c.939C>T, XM_017009121.1:c.939C>T, XM_017009124.3:c.651C>T, XM_017009124.2:c.651C>T, XM_017009124.1:c.651C>T, XM_017009126.3:c.591C>T, XM_017009126.2:c.591C>T, XM_017009126.1:c.591C>T, XM_017009123.3:c.939C>T, XM_017009123.2:c.939C>T, XM_017009123.1:c.939C>T, XM_011513985.3:c.939C>T, XM_011513985.2:c.939C>T, XM_011513985.1:c.939C>T, NM_001317949.2:c.966C>T, NM_001317949.1:c.966C>T, XM_047416824.1:c.939C>T, XM_047416825.1:c.*1744C>T, XM_047416826.1:c.*1744C>T, NM_001386171.1:c.966C>T, NR_169876.1:n.909C>T, NR_169875.1:n.835C>T, NM_001386170.1:c.939C>T, XR_007058729.1:n.458G>A, NM_001386169.1:c.939C>T, NR_169874.1:n.1022C>T, NM_001386172.1:c.939C>T

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