SNP Links for Protein (Select 767987907) - SNP - NCBI

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Links from Protein

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Select item 14904796301.

rs1490479630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1558093 (GRCh38)
16:1608094 (GRCh37)
Canonical SPDI:: NC_000016.10:1558092:G:A
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1558093G>A, NC_000016.9:g.1608094G>A, NG_032783.1:g.59016C>T, NM_014714.4:c.2241C>T, NM_014714.3:c.2241C>T, XM_005255725.6:c.2241C>T, XM_005255725.5:c.2241C>T, XM_005255725.4:c.2241C>T, XM_005255725.3:c.2241C>T, XM_005255725.2:c.2241C>T, XM_005255725.1:c.2241C>T, XM_005255726.5:c.2241C>T, XM_005255726.4:c.2241C>T, XM_005255726.3:c.2241C>T, XM_005255726.2:c.2241C>T, XM_005255726.1:c.2241C>T, XM_011522772.4:c.2241C>T, XM_011522772.3:c.2241C>T, XM_011522772.2:c.2241C>T, XM_011522772.1:c.2241C>T, XM_006720991.4:c.2241C>T, XM_006720991.3:c.2241C>T, XM_006720991.2:c.2241C>T, XM_006720991.1:c.2241C>T, XM_006720990.4:c.2241C>T, XM_006720990.3:c.2241C>T, XM_006720990.2:c.2241C>T, XM_006720990.1:c.2241C>T, XM_011522771.4:c.2241C>T, XM_011522771.3:c.2241C>T, XM_011522771.2:c.2241C>T, XM_011522771.1:c.2241C>T, XM_011522769.4:c.2241C>T, XM_011522769.3:c.2241C>T, XM_011522769.2:c.2241C>T, XM_011522769.1:c.2241C>T, XM_011522767.2:c.1266C>T, XM_011522767.1:c.1266C>T, XM_047434976.1:c.2241C>T, XM_047434968.1:c.2241C>T, XM_047434967.1:c.2241C>T, XM_047434972.1:c.2241C>T, XM_047434966.1:c.2241C>T, XM_047434969.1:c.2241C>T, XM_047434970.1:c.1995C>T, XM_047434965.1:c.2241C>T, XM_047434974.1:c.2241C>T, XM_047434977.1:c.2241C>T, XM_047434973.1:c.2241C>T, XM_047434975.1:c.2241C>T, XM_047434978.1:c.2241C>T, XM_047434980.1:c.2241C>T, XM_047434979.1:c.2241C>T, XM_047434971.1:c.426C>T

Select item 14902617942.

rs1490261794 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 16:1520741 (GRCh38)
16:1570742 (GRCh37)
Canonical SPDI:: NC_000016.10:1520740:A:
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1520741del, NC_000016.9:g.1570742del, NG_032783.1:g.96368del, NM_014714.4:c.3521del, NM_014714.3:c.3521del, XM_006720991.4:c.3521del, XM_006720991.3:c.3521del, XM_006720991.2:c.3521del, XM_006720991.1:c.3521del, XM_006720992.4:c.1154del, XM_006720992.3:c.1154del, XM_006720992.2:c.1154del, XM_006720992.1:c.1154del, XM_006720990.4:c.3521del, XM_006720990.3:c.3521del, XM_006720990.2:c.3521del, XM_006720990.1:c.3521del, XM_011522767.2:c.2546del, XM_011522767.1:c.2546del, XM_047434968.1:c.3521del, XM_047434967.1:c.3521del, XM_047434966.1:c.3521del, XM_047434969.1:c.3521del, XM_047434970.1:c.3275del, XM_047434965.1:c.3521del, XM_047434971.1:c.1706del, NP_055529.2:p.Met1174fs, XP_006721054.1:p.Met1174fs, XP_006721055.1:p.Met385fs, XP_006721053.1:p.Met1174fs, XP_011521069.1:p.Met849fs, XP_047290924.1:p.Met1174fs, XP_047290923.1:p.Met1174fs, XP_047290922.1:p.Met1174fs, XP_047290925.1:p.Met1174fs, XP_047290926.1:p.Met1092fs, XP_047290921.1:p.Met1174fs, XP_047290927.1:p.Met569fs

Select item 14901542893.

rs1490154289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:1564144 (GRCh38)
16:1614145 (GRCh37)
Canonical SPDI:: NC_000016.10:1564143:A:T
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1564144A>T, NC_000016.9:g.1614145A>T, NG_032783.1:g.52965T>A, NM_014714.4:c.1920T>A, NM_014714.3:c.1920T>A, XM_005255725.6:c.1920T>A, XM_005255725.5:c.1920T>A, XM_005255725.4:c.1920T>A, XM_005255725.3:c.1920T>A, XM_005255725.2:c.1920T>A, XM_005255725.1:c.1920T>A, XM_005255726.5:c.1920T>A, XM_005255726.4:c.1920T>A, XM_005255726.3:c.1920T>A, XM_005255726.2:c.1920T>A, XM_005255726.1:c.1920T>A, XM_011522772.4:c.1920T>A, XM_011522772.3:c.1920T>A, XM_011522772.2:c.1920T>A, XM_011522772.1:c.1920T>A, XM_006720991.4:c.1920T>A, XM_006720991.3:c.1920T>A, XM_006720991.2:c.1920T>A, XM_006720991.1:c.1920T>A, XM_006720990.4:c.1920T>A, XM_006720990.3:c.1920T>A, XM_006720990.2:c.1920T>A, XM_006720990.1:c.1920T>A, XM_011522771.4:c.1920T>A, XM_011522771.3:c.1920T>A, XM_011522771.2:c.1920T>A, XM_011522771.1:c.1920T>A, XM_011522769.4:c.1920T>A, XM_011522769.3:c.1920T>A, XM_011522769.2:c.1920T>A, XM_011522769.1:c.1920T>A, XM_011522767.2:c.945T>A, XM_011522767.1:c.945T>A, XM_047434976.1:c.1920T>A, XM_047434968.1:c.1920T>A, XM_047434967.1:c.1920T>A, XM_047434972.1:c.1920T>A, XM_047434966.1:c.1920T>A, XM_047434969.1:c.1920T>A, XM_047434970.1:c.1674T>A, XM_047434965.1:c.1920T>A, XM_047434974.1:c.1920T>A, XM_047434977.1:c.1920T>A, XM_047434973.1:c.1920T>A, XM_047434975.1:c.1920T>A, XM_047434978.1:c.1920T>A, XM_047434980.1:c.1920T>A, XM_047434979.1:c.1920T>A, XM_047434971.1:c.105T>A, NP_055529.2:p.Asp640Glu, XP_005255782.1:p.Asp640Glu, XP_005255783.1:p.Asp640Glu, XP_011521074.1:p.Asp640Glu, XP_006721054.1:p.Asp640Glu, XP_006721053.1:p.Asp640Glu, XP_011521073.1:p.Asp640Glu, XP_011521071.1:p.Asp640Glu, XP_011521069.1:p.Asp315Glu, XP_047290932.1:p.Asp640Glu, XP_047290924.1:p.Asp640Glu, XP_047290923.1:p.Asp640Glu, XP_047290928.1:p.Asp640Glu, XP_047290922.1:p.Asp640Glu, XP_047290925.1:p.Asp640Glu, XP_047290926.1:p.Asp558Glu, XP_047290921.1:p.Asp640Glu, XP_047290930.1:p.Asp640Glu, XP_047290933.1:p.Asp640Glu, XP_047290929.1:p.Asp640Glu, XP_047290931.1:p.Asp640Glu, XP_047290934.1:p.Asp640Glu, XP_047290936.1:p.Asp640Glu, XP_047290935.1:p.Asp640Glu, XP_047290927.1:p.Asp35Glu

Select item 14899012624.

rs1489901262 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGTCCATCTCG>- [Show Flanks]
Chromosome:: 16:1524863 (GRCh38)
16:1574864 (GRCh37)
Canonical SPDI:: NC_000016.10:1524860:CGGCGTCCATCTCG:CG
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0.000051/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1524863_1524874del, NC_000016.9:g.1574864_1574875del, NG_032783.1:g.92237_92248del, NM_014714.4:c.2909_2920del, NM_014714.3:c.2909_2920del, XM_006720991.4:c.2909_2920del, XM_006720991.3:c.2909_2920del, XM_006720991.2:c.2909_2920del, XM_006720991.1:c.2909_2920del, XM_006720992.4:c.542_553del, XM_006720992.3:c.542_553del, XM_006720992.2:c.542_553del, XM_006720992.1:c.542_553del, XM_006720990.4:c.2909_2920del, XM_006720990.3:c.2909_2920del, XM_006720990.2:c.2909_2920del, XM_006720990.1:c.2909_2920del, XM_011522767.2:c.1934_1945del, XM_011522767.1:c.1934_1945del, XM_047434968.1:c.2909_2920del, XM_047434967.1:c.2909_2920del, XM_047434966.1:c.2909_2920del, XM_047434969.1:c.2909_2920del, XM_047434970.1:c.2663_2674del, XM_047434965.1:c.2909_2920del, XM_047434971.1:c.1094_1105del, NP_055529.2:p.Glu970_Ala973del, XP_006721054.1:p.Glu970_Ala973del, XP_006721055.1:p.Glu181_Ala184del, XP_006721053.1:p.Glu970_Ala973del, XP_011521069.1:p.Glu645_Ala648del, XP_047290924.1:p.Glu970_Ala973del, XP_047290923.1:p.Glu970_Ala973del, XP_047290922.1:p.Glu970_Ala973del, XP_047290925.1:p.Glu970_Ala973del, XP_047290926.1:p.Glu888_Ala891del, XP_047290921.1:p.Glu970_Ala973del, XP_047290927.1:p.Glu365_Ala368del

Select item 14895492685.

rs1489549268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1580822 (GRCh38)
16:1630823 (GRCh37)
Canonical SPDI:: NC_000016.10:1580821:T:C
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1580822T>C, NC_000016.9:g.1630823T>C, NG_032783.1:g.36287A>G, NM_014714.4:c.1461A>G, NM_014714.3:c.1461A>G, XM_005255725.6:c.1461A>G, XM_005255725.5:c.1461A>G, XM_005255725.4:c.1461A>G, XM_005255725.3:c.1461A>G, XM_005255725.2:c.1461A>G, XM_005255725.1:c.1461A>G, XM_005255726.5:c.1461A>G, XM_005255726.4:c.1461A>G, XM_005255726.3:c.1461A>G, XM_005255726.2:c.1461A>G, XM_005255726.1:c.1461A>G, XM_011522772.4:c.1461A>G, XM_011522772.3:c.1461A>G, XM_011522772.2:c.1461A>G, XM_011522772.1:c.1461A>G, XM_006720991.4:c.1461A>G, XM_006720991.3:c.1461A>G, XM_006720991.2:c.1461A>G, XM_006720991.1:c.1461A>G, XM_006720990.4:c.1461A>G, XM_006720990.3:c.1461A>G, XM_006720990.2:c.1461A>G, XM_006720990.1:c.1461A>G, XM_011522771.4:c.1461A>G, XM_011522771.3:c.1461A>G, XM_011522771.2:c.1461A>G, XM_011522771.1:c.1461A>G, XM_011522769.4:c.1461A>G, XM_011522769.3:c.1461A>G, XM_011522769.2:c.1461A>G, XM_011522769.1:c.1461A>G, XM_011522767.2:c.486A>G, XM_011522767.1:c.486A>G, XM_047434976.1:c.1461A>G, XM_047434968.1:c.1461A>G, XM_047434967.1:c.1461A>G, XM_047434972.1:c.1461A>G, XM_047434966.1:c.1461A>G, XM_047434969.1:c.1461A>G, XM_047434970.1:c.1461A>G, XM_047434965.1:c.1461A>G, XM_047434974.1:c.1461A>G, XM_047434977.1:c.1461A>G, XM_047434973.1:c.1461A>G, XM_047434975.1:c.1461A>G, XM_047434978.1:c.1461A>G, XM_047434980.1:c.1461A>G, XM_047434979.1:c.1461A>G

Select item 14892603776.

rs1489260377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1511079 (GRCh38)
16:1561080 (GRCh37)
Canonical SPDI:: NC_000016.10:1511078:C:T
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.1511079C>T, NC_000016.9:g.1561080C>T, NG_032783.1:g.106030G>A, NM_014714.4:c.4254G>A, NM_014714.3:c.4254G>A, NG_050910.1:g.22736C>T, XM_006720991.4:c.4254G>A, XM_006720991.3:c.4254G>A, XM_006720991.2:c.4254G>A, XM_006720991.1:c.4254G>A, XM_006720992.4:c.1887G>A, XM_006720992.3:c.1887G>A, XM_006720992.2:c.1887G>A, XM_006720992.1:c.1887G>A, XM_006720990.4:c.4254G>A, XM_006720990.3:c.4254G>A, XM_006720990.2:c.4254G>A, XM_006720990.1:c.4254G>A, XM_011522767.2:c.3279G>A, XM_011522767.1:c.3279G>A, XM_047434968.1:c.4254G>A, XM_047434967.1:c.4254G>A, XM_047434966.1:c.4254G>A, XM_047434969.1:c.4254G>A, XM_047434970.1:c.4008G>A, XM_047434965.1:c.4254G>A, XM_047434971.1:c.2439G>A

Select item 14887964087.

rs1488796408 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:1520323 (GRCh38)
16:1570324 (GRCh37)
Canonical SPDI:: NC_000016.10:1520322:T:G
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1520323T>G, NC_000016.9:g.1570324T>G, NG_032783.1:g.96786A>C, NM_014714.4:c.3681A>C, NM_014714.3:c.3681A>C, XM_006720991.4:c.3681A>C, XM_006720991.3:c.3681A>C, XM_006720991.2:c.3681A>C, XM_006720991.1:c.3681A>C, XM_006720992.4:c.1314A>C, XM_006720992.3:c.1314A>C, XM_006720992.2:c.1314A>C, XM_006720992.1:c.1314A>C, XM_006720990.4:c.3681A>C, XM_006720990.3:c.3681A>C, XM_006720990.2:c.3681A>C, XM_006720990.1:c.3681A>C, XM_011522767.2:c.2706A>C, XM_011522767.1:c.2706A>C, XM_047434968.1:c.3681A>C, XM_047434967.1:c.3681A>C, XM_047434966.1:c.3681A>C, XM_047434969.1:c.3681A>C, XM_047434970.1:c.3435A>C, XM_047434965.1:c.3681A>C, XM_047434971.1:c.1866A>C, NP_055529.2:p.Lys1227Asn, XP_006721054.1:p.Lys1227Asn, XP_006721055.1:p.Lys438Asn, XP_006721053.1:p.Lys1227Asn, XP_011521069.1:p.Lys902Asn, XP_047290924.1:p.Lys1227Asn, XP_047290923.1:p.Lys1227Asn, XP_047290922.1:p.Lys1227Asn, XP_047290925.1:p.Lys1227Asn, XP_047290926.1:p.Lys1145Asn, XP_047290921.1:p.Lys1227Asn, XP_047290927.1:p.Lys622Asn

Select item 14869194648.

rs1486919464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1562054 (GRCh38)
16:1612055 (GRCh37)
Canonical SPDI:: NC_000016.10:1562053:G:A
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1562054G>A, NC_000016.9:g.1612055G>A, NG_032783.1:g.55055C>T, NM_014714.4:c.2130C>T, NM_014714.3:c.2130C>T, XM_005255725.6:c.2130C>T, XM_005255725.5:c.2130C>T, XM_005255725.4:c.2130C>T, XM_005255725.3:c.2130C>T, XM_005255725.2:c.2130C>T, XM_005255725.1:c.2130C>T, XM_005255726.5:c.2130C>T, XM_005255726.4:c.2130C>T, XM_005255726.3:c.2130C>T, XM_005255726.2:c.2130C>T, XM_005255726.1:c.2130C>T, XM_011522772.4:c.2130C>T, XM_011522772.3:c.2130C>T, XM_011522772.2:c.2130C>T, XM_011522772.1:c.2130C>T, XM_006720991.4:c.2130C>T, XM_006720991.3:c.2130C>T, XM_006720991.2:c.2130C>T, XM_006720991.1:c.2130C>T, XM_006720990.4:c.2130C>T, XM_006720990.3:c.2130C>T, XM_006720990.2:c.2130C>T, XM_006720990.1:c.2130C>T, XM_011522771.4:c.2130C>T, XM_011522771.3:c.2130C>T, XM_011522771.2:c.2130C>T, XM_011522771.1:c.2130C>T, XM_011522769.4:c.2130C>T, XM_011522769.3:c.2130C>T, XM_011522769.2:c.2130C>T, XM_011522769.1:c.2130C>T, XM_011522767.2:c.1155C>T, XM_011522767.1:c.1155C>T, XM_047434976.1:c.2130C>T, XM_047434968.1:c.2130C>T, XM_047434967.1:c.2130C>T, XM_047434972.1:c.2130C>T, XM_047434966.1:c.2130C>T, XM_047434969.1:c.2130C>T, XM_047434970.1:c.1884C>T, XM_047434965.1:c.2130C>T, XM_047434974.1:c.2130C>T, XM_047434977.1:c.2130C>T, XM_047434973.1:c.2130C>T, XM_047434975.1:c.2130C>T, XM_047434978.1:c.2130C>T, XM_047434980.1:c.2130C>T, XM_047434979.1:c.2130C>T, XM_047434971.1:c.315C>T

Select item 14865663789.

rs1486566378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:1586235 (GRCh38)
16:1636236 (GRCh37)
Canonical SPDI:: NC_000016.10:1586234:C:G
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1586235C>G, NC_000016.9:g.1636236C>G, NG_032783.1:g.30874G>C, NM_014714.4:c.1050G>C, NM_014714.3:c.1050G>C, XM_005255725.6:c.1050G>C, XM_005255725.5:c.1050G>C, XM_005255725.4:c.1050G>C, XM_005255725.3:c.1050G>C, XM_005255725.2:c.1050G>C, XM_005255725.1:c.1050G>C, XM_005255726.5:c.1050G>C, XM_005255726.4:c.1050G>C, XM_005255726.3:c.1050G>C, XM_005255726.2:c.1050G>C, XM_005255726.1:c.1050G>C, XM_011522772.4:c.1050G>C, XM_011522772.3:c.1050G>C, XM_011522772.2:c.1050G>C, XM_011522772.1:c.1050G>C, XM_006720991.4:c.1050G>C, XM_006720991.3:c.1050G>C, XM_006720991.2:c.1050G>C, XM_006720991.1:c.1050G>C, XM_006720990.4:c.1050G>C, XM_006720990.3:c.1050G>C, XM_006720990.2:c.1050G>C, XM_006720990.1:c.1050G>C, XM_011522771.4:c.1050G>C, XM_011522771.3:c.1050G>C, XM_011522771.2:c.1050G>C, XM_011522771.1:c.1050G>C, XM_011522769.4:c.1050G>C, XM_011522769.3:c.1050G>C, XM_011522769.2:c.1050G>C, XM_011522769.1:c.1050G>C, XM_011522767.2:c.75G>C, XM_011522767.1:c.75G>C, XM_047434976.1:c.1050G>C, XM_047434968.1:c.1050G>C, XM_047434967.1:c.1050G>C, XM_047434972.1:c.1050G>C, XM_047434966.1:c.1050G>C, XM_047434969.1:c.1050G>C, XM_047434970.1:c.1050G>C, XM_047434965.1:c.1050G>C, XM_047434974.1:c.1050G>C, XM_047434977.1:c.1050G>C, XM_047434973.1:c.1050G>C, XM_047434975.1:c.1050G>C, XM_047434978.1:c.1050G>C, XM_047434980.1:c.1050G>C, XM_047434979.1:c.1050G>C, NP_055529.2:p.Met350Ile, XP_005255782.1:p.Met350Ile, XP_005255783.1:p.Met350Ile, XP_011521074.1:p.Met350Ile, XP_006721054.1:p.Met350Ile, XP_006721053.1:p.Met350Ile, XP_011521073.1:p.Met350Ile, XP_011521071.1:p.Met350Ile, XP_011521069.1:p.Met25Ile, XP_047290932.1:p.Met350Ile, XP_047290924.1:p.Met350Ile, XP_047290923.1:p.Met350Ile, XP_047290928.1:p.Met350Ile, XP_047290922.1:p.Met350Ile, XP_047290925.1:p.Met350Ile, XP_047290926.1:p.Met350Ile, XP_047290921.1:p.Met350Ile, XP_047290930.1:p.Met350Ile, XP_047290933.1:p.Met350Ile, XP_047290929.1:p.Met350Ile, XP_047290931.1:p.Met350Ile, XP_047290934.1:p.Met350Ile, XP_047290936.1:p.Met350Ile, XP_047290935.1:p.Met350Ile

Select item 148494857610.

rs1484948576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1526017 (GRCh38)
16:1576018 (GRCh37)
Canonical SPDI:: NC_000016.10:1526016:G:A
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000016.10:g.1526017G>A, NC_000016.9:g.1576018G>A, NG_032783.1:g.91092C>T, NM_014714.4:c.2638C>T, NM_014714.3:c.2638C>T, XM_006720991.4:c.2638C>T, XM_006720991.3:c.2638C>T, XM_006720991.2:c.2638C>T, XM_006720991.1:c.2638C>T, XM_006720992.4:c.271C>T, XM_006720992.3:c.271C>T, XM_006720992.2:c.271C>T, XM_006720992.1:c.271C>T, XM_006720990.4:c.2638C>T, XM_006720990.3:c.2638C>T, XM_006720990.2:c.2638C>T, XM_006720990.1:c.2638C>T, XM_011522767.2:c.1663C>T, XM_011522767.1:c.1663C>T, XM_047434968.1:c.2638C>T, XM_047434967.1:c.2638C>T, XM_047434966.1:c.2638C>T, XM_047434969.1:c.2638C>T, XM_047434970.1:c.2392C>T, XM_047434965.1:c.2638C>T, XM_047434971.1:c.823C>T, NP_055529.2:p.Gln880Ter, XP_006721054.1:p.Gln880Ter, XP_006721055.1:p.Gln91Ter, XP_006721053.1:p.Gln880Ter, XP_011521069.1:p.Gln555Ter, XP_047290924.1:p.Gln880Ter, XP_047290923.1:p.Gln880Ter, XP_047290922.1:p.Gln880Ter, XP_047290925.1:p.Gln880Ter, XP_047290926.1:p.Gln798Ter, XP_047290921.1:p.Gln880Ter, XP_047290927.1:p.Gln275Ter

Select item 148461684711.

rs1484616847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1587106 (GRCh38)
16:1637107 (GRCh37)
Canonical SPDI:: NC_000016.10:1587105:T:C
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.1587106T>C, NC_000016.9:g.1637107T>C, NG_032783.1:g.30003A>G, XM_011522767.2:c.23A>G, XM_011522767.1:c.23A>G, XP_011521069.1:p.Tyr8Cys

Select item 148439022212.

rs1484390222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1526631 (GRCh38)
16:1576632 (GRCh37)
Canonical SPDI:: NC_000016.10:1526630:C:T
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.1526631C>T, NC_000016.9:g.1576632C>T, NG_032783.1:g.90478G>A, NM_014714.4:c.2565G>A, NM_014714.3:c.2565G>A, XM_006720991.4:c.2565G>A, XM_006720991.3:c.2565G>A, XM_006720991.2:c.2565G>A, XM_006720991.1:c.2565G>A, XM_006720992.4:c.198G>A, XM_006720992.3:c.198G>A, XM_006720992.2:c.198G>A, XM_006720992.1:c.198G>A, XM_006720990.4:c.2565G>A, XM_006720990.3:c.2565G>A, XM_006720990.2:c.2565G>A, XM_006720990.1:c.2565G>A, XM_011522767.2:c.1590G>A, XM_011522767.1:c.1590G>A, XM_047434968.1:c.2565G>A, XM_047434967.1:c.2565G>A, XM_047434966.1:c.2565G>A, XM_047434969.1:c.2565G>A, XM_047434970.1:c.2319G>A, XM_047434965.1:c.2565G>A, XM_047434971.1:c.750G>A

Select item 148322340713.

rs1483223407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:1584336 (GRCh38)
16:1634337 (GRCh37)
Canonical SPDI:: NC_000016.10:1584335:G:A,NC_000016.10:1584335:G:T
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.1584336G>A, NC_000016.10:g.1584336G>T, NC_000016.9:g.1634337G>A, NC_000016.9:g.1634337G>T, NG_032783.1:g.32773C>T, NG_032783.1:g.32773C>A, NM_014714.4:c.1240C>T, NM_014714.4:c.1240C>A, NM_014714.3:c.1240C>T, NM_014714.3:c.1240C>A, XM_005255725.6:c.1240C>T, XM_005255725.6:c.1240C>A, XM_005255725.5:c.1240C>T, XM_005255725.5:c.1240C>A, XM_005255725.4:c.1240C>T, XM_005255725.4:c.1240C>A, XM_005255725.3:c.1240C>T, XM_005255725.3:c.1240C>A, XM_005255725.2:c.1240C>T, XM_005255725.2:c.1240C>A, XM_005255725.1:c.1240C>T, XM_005255725.1:c.1240C>A, XM_005255726.5:c.1240C>T, XM_005255726.5:c.1240C>A, XM_005255726.4:c.1240C>T, XM_005255726.4:c.1240C>A, XM_005255726.3:c.1240C>T, XM_005255726.3:c.1240C>A, XM_005255726.2:c.1240C>T, XM_005255726.2:c.1240C>A, XM_005255726.1:c.1240C>T, XM_005255726.1:c.1240C>A, XM_011522772.4:c.1240C>T, XM_011522772.4:c.1240C>A, XM_011522772.3:c.1240C>T, XM_011522772.3:c.1240C>A, XM_011522772.2:c.1240C>T, XM_011522772.2:c.1240C>A, XM_011522772.1:c.1240C>T, XM_011522772.1:c.1240C>A, XM_006720991.4:c.1240C>T, XM_006720991.4:c.1240C>A, XM_006720991.3:c.1240C>T, XM_006720991.3:c.1240C>A, XM_006720991.2:c.1240C>T, XM_006720991.2:c.1240C>A, XM_006720991.1:c.1240C>T, XM_006720991.1:c.1240C>A, XM_006720990.4:c.1240C>T, XM_006720990.4:c.1240C>A, XM_006720990.3:c.1240C>T, XM_006720990.3:c.1240C>A, XM_006720990.2:c.1240C>T, XM_006720990.2:c.1240C>A, XM_006720990.1:c.1240C>T, XM_006720990.1:c.1240C>A, XM_011522771.4:c.1240C>T, XM_011522771.4:c.1240C>A, XM_011522771.3:c.1240C>T, XM_011522771.3:c.1240C>A, XM_011522771.2:c.1240C>T, XM_011522771.2:c.1240C>A, XM_011522771.1:c.1240C>T, XM_011522771.1:c.1240C>A, XM_011522769.4:c.1240C>T, XM_011522769.4:c.1240C>A, XM_011522769.3:c.1240C>T, XM_011522769.3:c.1240C>A, XM_011522769.2:c.1240C>T, XM_011522769.2:c.1240C>A, XM_011522769.1:c.1240C>T, XM_011522769.1:c.1240C>A, XM_011522767.2:c.265C>T, XM_011522767.2:c.265C>A, XM_011522767.1:c.265C>T, XM_011522767.1:c.265C>A, XM_047434976.1:c.1240C>T, XM_047434976.1:c.1240C>A, XM_047434968.1:c.1240C>T, XM_047434968.1:c.1240C>A, XM_047434967.1:c.1240C>T, XM_047434967.1:c.1240C>A, XM_047434972.1:c.1240C>T, XM_047434972.1:c.1240C>A, XM_047434966.1:c.1240C>T, XM_047434966.1:c.1240C>A, XM_047434969.1:c.1240C>T, XM_047434969.1:c.1240C>A, XM_047434970.1:c.1240C>T, XM_047434970.1:c.1240C>A, XM_047434965.1:c.1240C>T, XM_047434965.1:c.1240C>A, XM_047434974.1:c.1240C>T, XM_047434974.1:c.1240C>A, XM_047434977.1:c.1240C>T, XM_047434977.1:c.1240C>A, XM_047434973.1:c.1240C>T, XM_047434973.1:c.1240C>A, XM_047434975.1:c.1240C>T, XM_047434975.1:c.1240C>A, XM_047434978.1:c.1240C>T, XM_047434978.1:c.1240C>A, XM_047434980.1:c.1240C>T, XM_047434980.1:c.1240C>A, XM_047434979.1:c.1240C>T, XM_047434979.1:c.1240C>A, NP_055529.2:p.His414Tyr, NP_055529.2:p.His414Asn, XP_005255782.1:p.His414Tyr, XP_005255782.1:p.His414Asn, XP_005255783.1:p.His414Tyr, XP_005255783.1:p.His414Asn, XP_011521074.1:p.His414Tyr, XP_011521074.1:p.His414Asn, XP_006721054.1:p.His414Tyr, XP_006721054.1:p.His414Asn, XP_006721053.1:p.His414Tyr, XP_006721053.1:p.His414Asn, XP_011521073.1:p.His414Tyr, XP_011521073.1:p.His414Asn, XP_011521071.1:p.His414Tyr, XP_011521071.1:p.His414Asn, XP_011521069.1:p.His89Tyr, XP_011521069.1:p.His89Asn, XP_047290932.1:p.His414Tyr, XP_047290932.1:p.His414Asn, XP_047290924.1:p.His414Tyr, XP_047290924.1:p.His414Asn, XP_047290923.1:p.His414Tyr, XP_047290923.1:p.His414Asn, XP_047290928.1:p.His414Tyr, XP_047290928.1:p.His414Asn, XP_047290922.1:p.His414Tyr, XP_047290922.1:p.His414Asn, XP_047290925.1:p.His414Tyr, XP_047290925.1:p.His414Asn, XP_047290926.1:p.His414Tyr, XP_047290926.1:p.His414Asn, XP_047290921.1:p.His414Tyr, XP_047290921.1:p.His414Asn, XP_047290930.1:p.His414Tyr, XP_047290930.1:p.His414Asn, XP_047290933.1:p.His414Tyr, XP_047290933.1:p.His414Asn, XP_047290929.1:p.His414Tyr, XP_047290929.1:p.His414Asn, XP_047290931.1:p.His414Tyr, XP_047290931.1:p.His414Asn, XP_047290934.1:p.His414Tyr, XP_047290934.1:p.His414Asn, XP_047290936.1:p.His414Tyr, XP_047290936.1:p.His414Asn, XP_047290935.1:p.His414Tyr, XP_047290935.1:p.His414Asn

Select item 148270822814.

rs1482708228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:1511102 (GRCh38)
16:1561103 (GRCh37)
Canonical SPDI:: NC_000016.10:1511101:T:C,NC_000016.10:1511101:T:G
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.1511102T>C, NC_000016.10:g.1511102T>G, NC_000016.9:g.1561103T>C, NC_000016.9:g.1561103T>G, NG_032783.1:g.106007A>G, NG_032783.1:g.106007A>C, NM_014714.4:c.4231A>G, NM_014714.4:c.4231A>C, NM_014714.3:c.4231A>G, NM_014714.3:c.4231A>C, NG_050910.1:g.22759T>C, NG_050910.1:g.22759T>G, XM_006720991.4:c.4231A>G, XM_006720991.4:c.4231A>C, XM_006720991.3:c.4231A>G, XM_006720991.3:c.4231A>C, XM_006720991.2:c.4231A>G, XM_006720991.2:c.4231A>C, XM_006720991.1:c.4231A>G, XM_006720991.1:c.4231A>C, XM_006720992.4:c.1864A>G, XM_006720992.4:c.1864A>C, XM_006720992.3:c.1864A>G, XM_006720992.3:c.1864A>C, XM_006720992.2:c.1864A>G, XM_006720992.2:c.1864A>C, XM_006720992.1:c.1864A>G, XM_006720992.1:c.1864A>C, XM_006720990.4:c.4231A>G, XM_006720990.4:c.4231A>C, XM_006720990.3:c.4231A>G, XM_006720990.3:c.4231A>C, XM_006720990.2:c.4231A>G, XM_006720990.2:c.4231A>C, XM_006720990.1:c.4231A>G, XM_006720990.1:c.4231A>C, XM_011522767.2:c.3256A>G, XM_011522767.2:c.3256A>C, XM_011522767.1:c.3256A>G, XM_011522767.1:c.3256A>C, XM_047434968.1:c.4231A>G, XM_047434968.1:c.4231A>C, XM_047434967.1:c.4231A>G, XM_047434967.1:c.4231A>C, XM_047434966.1:c.4231A>G, XM_047434966.1:c.4231A>C, XM_047434969.1:c.4231A>G, XM_047434969.1:c.4231A>C, XM_047434970.1:c.3985A>G, XM_047434970.1:c.3985A>C, XM_047434965.1:c.4231A>G, XM_047434965.1:c.4231A>C, XM_047434971.1:c.2416A>G, XM_047434971.1:c.2416A>C, NP_055529.2:p.Met1411Val, NP_055529.2:p.Met1411Leu, XP_006721054.1:p.Met1411Val, XP_006721054.1:p.Met1411Leu, XP_006721055.1:p.Met622Val, XP_006721055.1:p.Met622Leu, XP_006721053.1:p.Met1411Val, XP_006721053.1:p.Met1411Leu, XP_011521069.1:p.Met1086Val, XP_011521069.1:p.Met1086Leu, XP_047290924.1:p.Met1411Val, XP_047290924.1:p.Met1411Leu, XP_047290923.1:p.Met1411Val, XP_047290923.1:p.Met1411Leu, XP_047290922.1:p.Met1411Val, XP_047290922.1:p.Met1411Leu, XP_047290925.1:p.Met1411Val, XP_047290925.1:p.Met1411Leu, XP_047290926.1:p.Met1329Val, XP_047290926.1:p.Met1329Leu, XP_047290921.1:p.Met1411Val, XP_047290921.1:p.Met1411Leu, XP_047290927.1:p.Met806Val, XP_047290927.1:p.Met806Leu

Select item 148204189815.

rs1482041898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1584282 (GRCh38)
16:1634283 (GRCh37)
Canonical SPDI:: NC_000016.10:1584281:G:A
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1584282G>A, NC_000016.9:g.1634283G>A, NG_032783.1:g.32827C>T, NM_014714.4:c.1294C>T, NM_014714.3:c.1294C>T, XM_005255725.6:c.1294C>T, XM_005255725.5:c.1294C>T, XM_005255725.4:c.1294C>T, XM_005255725.3:c.1294C>T, XM_005255725.2:c.1294C>T, XM_005255725.1:c.1294C>T, XM_005255726.5:c.1294C>T, XM_005255726.4:c.1294C>T, XM_005255726.3:c.1294C>T, XM_005255726.2:c.1294C>T, XM_005255726.1:c.1294C>T, XM_011522772.4:c.1294C>T, XM_011522772.3:c.1294C>T, XM_011522772.2:c.1294C>T, XM_011522772.1:c.1294C>T, XM_006720991.4:c.1294C>T, XM_006720991.3:c.1294C>T, XM_006720991.2:c.1294C>T, XM_006720991.1:c.1294C>T, XM_006720990.4:c.1294C>T, XM_006720990.3:c.1294C>T, XM_006720990.2:c.1294C>T, XM_006720990.1:c.1294C>T, XM_011522771.4:c.1294C>T, XM_011522771.3:c.1294C>T, XM_011522771.2:c.1294C>T, XM_011522771.1:c.1294C>T, XM_011522769.4:c.1294C>T, XM_011522769.3:c.1294C>T, XM_011522769.2:c.1294C>T, XM_011522769.1:c.1294C>T, XM_011522767.2:c.319C>T, XM_011522767.1:c.319C>T, XM_047434976.1:c.1294C>T, XM_047434968.1:c.1294C>T, XM_047434967.1:c.1294C>T, XM_047434972.1:c.1294C>T, XM_047434966.1:c.1294C>T, XM_047434969.1:c.1294C>T, XM_047434970.1:c.1294C>T, XM_047434965.1:c.1294C>T, XM_047434974.1:c.1294C>T, XM_047434977.1:c.1294C>T, XM_047434973.1:c.1294C>T, XM_047434975.1:c.1294C>T, XM_047434978.1:c.1294C>T, XM_047434980.1:c.1294C>T, XM_047434979.1:c.1294C>T

Select item 148158527116.

rs1481585271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1510951 (GRCh38)
16:1560952 (GRCh37)
Canonical SPDI:: NC_000016.10:1510950:T:C
Gene:: IFT140 (Varview), TELO2 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1510951T>C, NC_000016.9:g.1560952T>C, NG_032783.1:g.106158A>G, NM_014714.4:c.4382A>G, NM_014714.3:c.4382A>G, NG_050910.1:g.22608T>C, XM_006720991.4:c.4382A>G, XM_006720991.3:c.4382A>G, XM_006720991.2:c.4382A>G, XM_006720991.1:c.4382A>G, XM_006720992.4:c.2015A>G, XM_006720992.3:c.2015A>G, XM_006720992.2:c.2015A>G, XM_006720992.1:c.2015A>G, XM_006720990.4:c.4382A>G, XM_006720990.3:c.4382A>G, XM_006720990.2:c.4382A>G, XM_006720990.1:c.4382A>G, XM_011522767.2:c.3407A>G, XM_011522767.1:c.3407A>G, XM_047434968.1:c.4382A>G, XM_047434967.1:c.4382A>G, XM_047434966.1:c.4382A>G, XM_047434969.1:c.4382A>G, XM_047434970.1:c.4136A>G, XM_047434965.1:c.4382A>G, XM_047434971.1:c.2567A>G, NP_055529.2:p.Asp1461Gly, XP_006721054.1:p.Asp1461Gly, XP_006721055.1:p.Asp672Gly, XP_006721053.1:p.Asp1461Gly, XP_011521069.1:p.Asp1136Gly, XP_047290924.1:p.Asp1461Gly, XP_047290923.1:p.Asp1461Gly, XP_047290922.1:p.Asp1461Gly, XP_047290925.1:p.Asp1461Gly, XP_047290926.1:p.Asp1379Gly, XP_047290921.1:p.Asp1461Gly, XP_047290927.1:p.Asp856Gly

Select item 148120503017.

rs1481205030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:1518357 (GRCh38)
16:1568358 (GRCh37)
Canonical SPDI:: NC_000016.10:1518356:C:G,NC_000016.10:1518356:C:T
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1518357C>G, NC_000016.10:g.1518357C>T, NC_000016.9:g.1568358C>G, NC_000016.9:g.1568358C>T, NG_032783.1:g.98752G>C, NG_032783.1:g.98752G>A, NM_014714.4:c.4041G>C, NM_014714.4:c.4041G>A, NM_014714.3:c.4041G>C, NM_014714.3:c.4041G>A, XM_006720991.4:c.4041G>C, XM_006720991.4:c.4041G>A, XM_006720991.3:c.4041G>C, XM_006720991.3:c.4041G>A, XM_006720991.2:c.4041G>C, XM_006720991.2:c.4041G>A, XM_006720991.1:c.4041G>C, XM_006720991.1:c.4041G>A, XM_006720992.4:c.1674G>C, XM_006720992.4:c.1674G>A, XM_006720992.3:c.1674G>C, XM_006720992.3:c.1674G>A, XM_006720992.2:c.1674G>C, XM_006720992.2:c.1674G>A, XM_006720992.1:c.1674G>C, XM_006720992.1:c.1674G>A, XM_006720990.4:c.4041G>C, XM_006720990.4:c.4041G>A, XM_006720990.3:c.4041G>C, XM_006720990.3:c.4041G>A, XM_006720990.2:c.4041G>C, XM_006720990.2:c.4041G>A, XM_006720990.1:c.4041G>C, XM_006720990.1:c.4041G>A, XM_011522767.2:c.3066G>C, XM_011522767.2:c.3066G>A, XM_011522767.1:c.3066G>C, XM_011522767.1:c.3066G>A, XM_047434968.1:c.4041G>C, XM_047434968.1:c.4041G>A, XM_047434967.1:c.4041G>C, XM_047434967.1:c.4041G>A, XM_047434966.1:c.4041G>C, XM_047434966.1:c.4041G>A, XM_047434969.1:c.4041G>C, XM_047434969.1:c.4041G>A, XM_047434970.1:c.3795G>C, XM_047434970.1:c.3795G>A, XM_047434965.1:c.4041G>C, XM_047434965.1:c.4041G>A, XM_047434971.1:c.2226G>C, XM_047434971.1:c.2226G>A, NP_055529.2:p.Arg1347Ser, XP_006721054.1:p.Arg1347Ser, XP_006721055.1:p.Arg558Ser, XP_006721053.1:p.Arg1347Ser, XP_011521069.1:p.Arg1022Ser, XP_047290924.1:p.Arg1347Ser, XP_047290923.1:p.Arg1347Ser, XP_047290922.1:p.Arg1347Ser, XP_047290925.1:p.Arg1347Ser, XP_047290926.1:p.Arg1265Ser, XP_047290921.1:p.Arg1347Ser, XP_047290927.1:p.Arg742Ser

Select item 148027950418.

rs1480279504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:1520755 (GRCh38)
16:1570756 (GRCh37)
Canonical SPDI:: NC_000016.10:1520754:C:A,NC_000016.10:1520754:C:G
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1520755C>A, NC_000016.10:g.1520755C>G, NC_000016.9:g.1570756C>A, NC_000016.9:g.1570756C>G, NG_032783.1:g.96354G>T, NG_032783.1:g.96354G>C, NM_014714.4:c.3507G>T, NM_014714.4:c.3507G>C, NM_014714.3:c.3507G>T, NM_014714.3:c.3507G>C, XM_006720991.4:c.3507G>T, XM_006720991.4:c.3507G>C, XM_006720991.3:c.3507G>T, XM_006720991.3:c.3507G>C, XM_006720991.2:c.3507G>T, XM_006720991.2:c.3507G>C, XM_006720991.1:c.3507G>T, XM_006720991.1:c.3507G>C, XM_006720992.4:c.1140G>T, XM_006720992.4:c.1140G>C, XM_006720992.3:c.1140G>T, XM_006720992.3:c.1140G>C, XM_006720992.2:c.1140G>T, XM_006720992.2:c.1140G>C, XM_006720992.1:c.1140G>T, XM_006720992.1:c.1140G>C, XM_006720990.4:c.3507G>T, XM_006720990.4:c.3507G>C, XM_006720990.3:c.3507G>T, XM_006720990.3:c.3507G>C, XM_006720990.2:c.3507G>T, XM_006720990.2:c.3507G>C, XM_006720990.1:c.3507G>T, XM_006720990.1:c.3507G>C, XM_011522767.2:c.2532G>T, XM_011522767.2:c.2532G>C, XM_011522767.1:c.2532G>T, XM_011522767.1:c.2532G>C, XM_047434968.1:c.3507G>T, XM_047434968.1:c.3507G>C, XM_047434967.1:c.3507G>T, XM_047434967.1:c.3507G>C, XM_047434966.1:c.3507G>T, XM_047434966.1:c.3507G>C, XM_047434969.1:c.3507G>T, XM_047434969.1:c.3507G>C, XM_047434970.1:c.3261G>T, XM_047434970.1:c.3261G>C, XM_047434965.1:c.3507G>T, XM_047434965.1:c.3507G>C, XM_047434971.1:c.1692G>T, XM_047434971.1:c.1692G>C, NP_055529.2:p.Glu1169Asp, NP_055529.2:p.Glu1169Asp, XP_006721054.1:p.Glu1169Asp, XP_006721054.1:p.Glu1169Asp, XP_006721055.1:p.Glu380Asp, XP_006721055.1:p.Glu380Asp, XP_006721053.1:p.Glu1169Asp, XP_006721053.1:p.Glu1169Asp, XP_011521069.1:p.Glu844Asp, XP_011521069.1:p.Glu844Asp, XP_047290924.1:p.Glu1169Asp, XP_047290924.1:p.Glu1169Asp, XP_047290923.1:p.Glu1169Asp, XP_047290923.1:p.Glu1169Asp, XP_047290922.1:p.Glu1169Asp, XP_047290922.1:p.Glu1169Asp, XP_047290925.1:p.Glu1169Asp, XP_047290925.1:p.Glu1169Asp, XP_047290926.1:p.Glu1087Asp, XP_047290926.1:p.Glu1087Asp, XP_047290921.1:p.Glu1169Asp, XP_047290921.1:p.Glu1169Asp, XP_047290927.1:p.Glu564Asp, XP_047290927.1:p.Glu564Asp

Select item 148022551719.

rs1480225517 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTG [Show Flanks]
Chromosome:: 16:1520007 (GRCh38)
16:1570009 (GRCh37)
Canonical SPDI:: NC_000016.10:1520007:CGTG:CGTGCGTG
Gene:: IFT140 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: CGTG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1520008_1520011dup, NC_000016.9:g.1570009_1570012dup, NG_032783.1:g.97098_97101dup, NM_014714.4:c.3910_3913dup, NM_014714.3:c.3910_3913dup, XM_006720991.4:c.3910_3913dup, XM_006720991.3:c.3910_3913dup, XM_006720991.2:c.3910_3913dup, XM_006720991.1:c.3910_3913dup, XM_006720992.4:c.1543_1546dup, XM_006720992.3:c.1543_1546dup, XM_006720992.2:c.1543_1546dup, XM_006720992.1:c.1543_1546dup, XM_006720990.4:c.3910_3913dup, XM_006720990.3:c.3910_3913dup, XM_006720990.2:c.3910_3913dup, XM_006720990.1:c.3910_3913dup, XM_011522767.2:c.2935_2938dup, XM_011522767.1:c.2935_2938dup, XM_047434968.1:c.3910_3913dup, XM_047434967.1:c.3910_3913dup, XM_047434966.1:c.3910_3913dup, XM_047434969.1:c.3910_3913dup, XM_047434970.1:c.3664_3667dup, XM_047434965.1:c.3910_3913dup, XM_047434971.1:c.2095_2098dup, NP_055529.2:p.Gly1305fs, XP_006721054.1:p.Gly1305fs, XP_006721055.1:p.Gly516fs, XP_006721053.1:p.Gly1305fs, XP_011521069.1:p.Gly980fs, XP_047290924.1:p.Gly1305fs, XP_047290923.1:p.Gly1305fs, XP_047290922.1:p.Gly1305fs, XP_047290925.1:p.Gly1305fs, XP_047290926.1:p.Gly1223fs, XP_047290921.1:p.Gly1305fs, XP_047290927.1:p.Gly700fs

Select item 147967661220.

rs1479676612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1571438 (GRCh38)
16:1621439 (GRCh37)
Canonical SPDI:: NC_000016.10:1571437:C:T
Gene:: IFT140 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1571438C>T, NC_000016.9:g.1621439C>T, NG_032783.1:g.45671G>A, NM_014714.4:c.1621G>A, NM_014714.3:c.1621G>A, XM_005255725.6:c.1621G>A, XM_005255725.5:c.1621G>A, XM_005255725.4:c.1621G>A, XM_005255725.3:c.1621G>A, XM_005255725.2:c.1621G>A, XM_005255725.1:c.1621G>A, XM_005255726.5:c.1621G>A, XM_005255726.4:c.1621G>A, XM_005255726.3:c.1621G>A, XM_005255726.2:c.1621G>A, XM_005255726.1:c.1621G>A, XM_011522772.4:c.1621G>A, XM_011522772.3:c.1621G>A, XM_011522772.2:c.1621G>A, XM_011522772.1:c.1621G>A, XM_006720991.4:c.1621G>A, XM_006720991.3:c.1621G>A, XM_006720991.2:c.1621G>A, XM_006720991.1:c.1621G>A, XM_006720990.4:c.1621G>A, XM_006720990.3:c.1621G>A, XM_006720990.2:c.1621G>A, XM_006720990.1:c.1621G>A, XM_011522771.4:c.1621G>A, XM_011522771.3:c.1621G>A, XM_011522771.2:c.1621G>A, XM_011522771.1:c.1621G>A, XM_011522769.4:c.1621G>A, XM_011522769.3:c.1621G>A, XM_011522769.2:c.1621G>A, XM_011522769.1:c.1621G>A, XM_011522767.2:c.646G>A, XM_011522767.1:c.646G>A, XM_047434976.1:c.1621G>A, XM_047434968.1:c.1621G>A, XM_047434967.1:c.1621G>A, XM_047434972.1:c.1621G>A, XM_047434966.1:c.1621G>A, XM_047434969.1:c.1621G>A, XM_047434965.1:c.1621G>A, XM_047434974.1:c.1621G>A, XM_047434977.1:c.1621G>A, XM_047434973.1:c.1621G>A, XM_047434975.1:c.1621G>A, XM_047434978.1:c.1621G>A, XM_047434980.1:c.1621G>A, XM_047434979.1:c.1621G>A, XM_047434971.1:c.-77G>A, NP_055529.2:p.Ala541Thr, XP_005255782.1:p.Ala541Thr, XP_005255783.1:p.Ala541Thr, XP_011521074.1:p.Ala541Thr, XP_006721054.1:p.Ala541Thr, XP_006721053.1:p.Ala541Thr, XP_011521073.1:p.Ala541Thr, XP_011521071.1:p.Ala541Thr, XP_011521069.1:p.Ala216Thr, XP_047290932.1:p.Ala541Thr, XP_047290924.1:p.Ala541Thr, XP_047290923.1:p.Ala541Thr, XP_047290928.1:p.Ala541Thr, XP_047290922.1:p.Ala541Thr, XP_047290925.1:p.Ala541Thr, XP_047290921.1:p.Ala541Thr, XP_047290930.1:p.Ala541Thr, XP_047290933.1:p.Ala541Thr, XP_047290929.1:p.Ala541Thr, XP_047290931.1:p.Ala541Thr, XP_047290934.1:p.Ala541Thr, XP_047290936.1:p.Ala541Thr, XP_047290935.1:p.Ala541Thr

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