SNP Links for Protein (Select 556695373) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 308

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Select item 14901889731.

rs1490188973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:73885033 (GRCh38)
15:74177374 (GRCh37)
Canonical SPDI:: NC_000015.10:73885032:T:A
Gene:: TBC1D21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73885033T>A, NC_000015.9:g.74177374T>A, XM_006720409.5:c.509T>A, XM_006720409.4:c.509T>A, XM_006720409.3:c.509T>A, XM_006720409.2:c.509T>A, XM_006720409.1:c.509T>A, XM_006720410.5:c.401T>A, XM_006720410.4:c.401T>A, XM_006720410.3:c.401T>A, XM_006720410.2:c.401T>A, XM_006720410.1:c.401T>A, XM_011521281.4:c.509T>A, XM_011521281.3:c.509T>A, XM_011521281.2:c.509T>A, XM_011521281.1:c.509T>A, XM_011521284.4:c.245T>A, XM_011521284.3:c.245T>A, XM_011521284.2:c.245T>A, XM_011521284.1:c.245T>A, XM_006720411.4:c.212T>A, XM_006720411.3:c.212T>A, XM_006720411.2:c.212T>A, XM_006720411.1:c.212T>A, NM_153356.3:c.509T>A, NM_153356.2:c.509T>A, NM_153356.1:c.509T>A, XM_011521282.3:c.509T>A, XM_011521282.2:c.509T>A, XM_011521282.1:c.509T>A, XM_011521283.3:c.509T>A, XM_011521283.2:c.509T>A, XM_011521283.1:c.509T>A, NM_001286434.2:c.401T>A, NM_001286434.1:c.401T>A, XM_047432198.1:c.401T>A, XP_006720472.1:p.Met170Lys, XP_006720473.1:p.Met134Lys, XP_011519583.1:p.Met170Lys, XP_011519586.1:p.Met82Lys, XP_006720474.1:p.Met71Lys, NP_699187.1:p.Met170Lys, XP_011519584.1:p.Met170Lys, XP_011519585.1:p.Met170Lys, NP_001273363.1:p.Met134Lys, XP_047288154.1:p.Met134Lys

Select item 14896547892.

rs1489654789 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 15:73886550 (GRCh38)
15:74178891 (GRCh37)
Canonical SPDI:: NC_000015.10:73886549:T:
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.73886550del, NC_000015.9:g.74178891del, XM_006720409.5:c.715del, XM_006720409.4:c.715del, XM_006720409.3:c.715del, XM_006720409.2:c.715del, XM_006720409.1:c.715del, XM_006720410.5:c.607del, XM_006720410.4:c.607del, XM_006720410.3:c.607del, XM_006720410.2:c.607del, XM_006720410.1:c.607del, XM_011521281.4:c.715del, XM_011521281.3:c.715del, XM_011521281.2:c.715del, XM_011521281.1:c.715del, XM_011521284.4:c.451del, XM_011521284.3:c.451del, XM_011521284.2:c.451del, XM_011521284.1:c.451del, XM_006720411.4:c.418del, XM_006720411.3:c.418del, XM_006720411.2:c.418del, XM_006720411.1:c.418del, NM_153356.3:c.715del, NM_153356.2:c.715del, NM_153356.1:c.715del, XM_011521282.3:c.715del, XM_011521282.2:c.715del, XM_011521282.1:c.715del, XM_011521283.3:c.715del, XM_011521283.2:c.715del, XM_011521283.1:c.715del, NM_001286434.2:c.607del, NM_001286434.1:c.607del, XM_047432198.1:c.607del, XP_006720472.1:p.Trp239fs, XP_006720473.1:p.Trp203fs, XP_011519583.1:p.Trp239fs, XP_011519586.1:p.Trp151fs, XP_006720474.1:p.Trp140fs, NP_699187.1:p.Trp239fs, XP_011519584.1:p.Trp239fs, XP_011519585.1:p.Trp239fs, NP_001273363.1:p.Trp203fs, XP_047288154.1:p.Trp203fs

Select item 14874896493.

rs1487489649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:73887650 (GRCh38)
15:74179991 (GRCh37)
Canonical SPDI:: NC_000015.10:73887649:T:A,NC_000015.10:73887649:T:C
Gene:: TBC1D21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73887650T>A, NC_000015.10:g.73887650T>C, NC_000015.9:g.74179991T>A, NC_000015.9:g.74179991T>C, XM_006720409.5:c.808T>A, XM_006720409.5:c.808T>C, XM_006720409.4:c.808T>A, XM_006720409.4:c.808T>C, XM_006720409.3:c.808T>A, XM_006720409.3:c.808T>C, XM_006720409.2:c.808T>A, XM_006720409.2:c.808T>C, XM_006720409.1:c.808T>A, XM_006720409.1:c.808T>C, XM_006720410.5:c.700T>A, XM_006720410.5:c.700T>C, XM_006720410.4:c.700T>A, XM_006720410.4:c.700T>C, XM_006720410.3:c.700T>A, XM_006720410.3:c.700T>C, XM_006720410.2:c.700T>A, XM_006720410.2:c.700T>C, XM_006720410.1:c.700T>A, XM_006720410.1:c.700T>C, XM_011521281.4:c.808T>A, XM_011521281.4:c.808T>C, XM_011521281.3:c.808T>A, XM_011521281.3:c.808T>C, XM_011521281.2:c.808T>A, XM_011521281.2:c.808T>C, XM_011521281.1:c.808T>A, XM_011521281.1:c.808T>C, XM_011521284.4:c.544T>A, XM_011521284.4:c.544T>C, XM_011521284.3:c.544T>A, XM_011521284.3:c.544T>C, XM_011521284.2:c.544T>A, XM_011521284.2:c.544T>C, XM_011521284.1:c.544T>A, XM_011521284.1:c.544T>C, XM_006720411.4:c.511T>A, XM_006720411.4:c.511T>C, XM_006720411.3:c.511T>A, XM_006720411.3:c.511T>C, XM_006720411.2:c.511T>A, XM_006720411.2:c.511T>C, XM_006720411.1:c.511T>A, XM_006720411.1:c.511T>C, NM_153356.3:c.808T>A, NM_153356.3:c.808T>C, NM_153356.2:c.808T>A, NM_153356.2:c.808T>C, NM_153356.1:c.808T>A, NM_153356.1:c.808T>C, XM_011521282.3:c.808T>A, XM_011521282.3:c.808T>C, XM_011521282.2:c.808T>A, XM_011521282.2:c.808T>C, XM_011521282.1:c.808T>A, XM_011521282.1:c.808T>C, XM_011521283.3:c.808T>A, XM_011521283.3:c.808T>C, XM_011521283.2:c.808T>A, XM_011521283.2:c.808T>C, XM_011521283.1:c.808T>A, XM_011521283.1:c.808T>C, NM_001286434.2:c.700T>A, NM_001286434.2:c.700T>C, NM_001286434.1:c.700T>A, NM_001286434.1:c.700T>C, XM_047432198.1:c.700T>A, XM_047432198.1:c.700T>C, XP_006720472.1:p.Phe270Ile, XP_006720472.1:p.Phe270Leu, XP_006720473.1:p.Phe234Ile, XP_006720473.1:p.Phe234Leu, XP_011519583.1:p.Phe270Ile, XP_011519583.1:p.Phe270Leu, XP_011519586.1:p.Phe182Ile, XP_011519586.1:p.Phe182Leu, XP_006720474.1:p.Phe171Ile, XP_006720474.1:p.Phe171Leu, NP_699187.1:p.Phe270Ile, NP_699187.1:p.Phe270Leu, XP_011519584.1:p.Phe270Ile, XP_011519584.1:p.Phe270Leu, XP_011519585.1:p.Phe270Ile, XP_011519585.1:p.Phe270Leu, NP_001273363.1:p.Phe234Ile, NP_001273363.1:p.Phe234Leu, XP_047288154.1:p.Phe234Ile, XP_047288154.1:p.Phe234Leu

Select item 14834084644.

rs1483408464 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 15:73886096 (GRCh38)
15:74178437 (GRCh37)
Canonical SPDI:: NC_000015.10:73886095:AA:A
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.73886097del, NC_000015.9:g.74178438del, XM_006720409.5:c.599del, XM_006720409.4:c.599del, XM_006720409.3:c.599del, XM_006720409.2:c.599del, XM_006720409.1:c.599del, XM_006720410.5:c.491del, XM_006720410.4:c.491del, XM_006720410.3:c.491del, XM_006720410.2:c.491del, XM_006720410.1:c.491del, XM_011521281.4:c.599del, XM_011521281.3:c.599del, XM_011521281.2:c.599del, XM_011521281.1:c.599del, XM_011521284.4:c.335del, XM_011521284.3:c.335del, XM_011521284.2:c.335del, XM_011521284.1:c.335del, XM_006720411.4:c.302del, XM_006720411.3:c.302del, XM_006720411.2:c.302del, XM_006720411.1:c.302del, NM_153356.3:c.599del, NM_153356.2:c.599del, NM_153356.1:c.599del, XM_011521282.3:c.599del, XM_011521282.2:c.599del, XM_011521282.1:c.599del, XM_011521283.3:c.599del, XM_011521283.2:c.599del, XM_011521283.1:c.599del, NM_001286434.2:c.491del, NM_001286434.1:c.491del, XM_047432198.1:c.491del, XP_006720472.1:p.Asn200fs, XP_006720473.1:p.Asn164fs, XP_011519583.1:p.Asn200fs, XP_011519586.1:p.Asn112fs, XP_006720474.1:p.Asn101fs, NP_699187.1:p.Asn200fs, XP_011519584.1:p.Asn200fs, XP_011519585.1:p.Asn200fs, NP_001273363.1:p.Asn164fs, XP_047288154.1:p.Asn164fs

Select item 14823011735.

rs1482301173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:73887714 (GRCh38)
15:74180055 (GRCh37)
Canonical SPDI:: NC_000015.10:73887713:T:C
Gene:: TBC1D21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.73887714T>C, NC_000015.9:g.74180055T>C, XM_006720409.5:c.872T>C, XM_006720409.4:c.872T>C, XM_006720409.3:c.872T>C, XM_006720409.2:c.872T>C, XM_006720409.1:c.872T>C, XM_006720410.5:c.764T>C, XM_006720410.4:c.764T>C, XM_006720410.3:c.764T>C, XM_006720410.2:c.764T>C, XM_006720410.1:c.764T>C, XM_011521281.4:c.872T>C, XM_011521281.3:c.872T>C, XM_011521281.2:c.872T>C, XM_011521281.1:c.872T>C, XM_011521284.4:c.608T>C, XM_011521284.3:c.608T>C, XM_011521284.2:c.608T>C, XM_011521284.1:c.608T>C, XM_006720411.4:c.575T>C, XM_006720411.3:c.575T>C, XM_006720411.2:c.575T>C, XM_006720411.1:c.575T>C, NM_153356.3:c.872T>C, NM_153356.2:c.872T>C, NM_153356.1:c.872T>C, XM_011521282.3:c.872T>C, XM_011521282.2:c.872T>C, XM_011521282.1:c.872T>C, XM_011521283.3:c.872T>C, XM_011521283.2:c.872T>C, XM_011521283.1:c.872T>C, NM_001286434.2:c.764T>C, NM_001286434.1:c.764T>C, XM_047432198.1:c.764T>C, XP_006720472.1:p.Met291Thr, XP_006720473.1:p.Met255Thr, XP_011519583.1:p.Met291Thr, XP_011519586.1:p.Met203Thr, XP_006720474.1:p.Met192Thr, NP_699187.1:p.Met291Thr, XP_011519584.1:p.Met291Thr, XP_011519585.1:p.Met291Thr, NP_001273363.1:p.Met255Thr, XP_047288154.1:p.Met255Thr

Select item 14812345506.

rs1481234550 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:73885005 (GRCh38)
15:74177346 (GRCh37)
Canonical SPDI:: NC_000015.10:73885004:T:A,NC_000015.10:73885004:T:C
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.73885005T>A, NC_000015.10:g.73885005T>C, NC_000015.9:g.74177346T>A, NC_000015.9:g.74177346T>C, XM_006720409.5:c.481T>A, XM_006720409.5:c.481T>C, XM_006720409.4:c.481T>A, XM_006720409.4:c.481T>C, XM_006720409.3:c.481T>A, XM_006720409.3:c.481T>C, XM_006720409.2:c.481T>A, XM_006720409.2:c.481T>C, XM_006720409.1:c.481T>A, XM_006720409.1:c.481T>C, XM_006720410.5:c.373T>A, XM_006720410.5:c.373T>C, XM_006720410.4:c.373T>A, XM_006720410.4:c.373T>C, XM_006720410.3:c.373T>A, XM_006720410.3:c.373T>C, XM_006720410.2:c.373T>A, XM_006720410.2:c.373T>C, XM_006720410.1:c.373T>A, XM_006720410.1:c.373T>C, XM_011521281.4:c.481T>A, XM_011521281.4:c.481T>C, XM_011521281.3:c.481T>A, XM_011521281.3:c.481T>C, XM_011521281.2:c.481T>A, XM_011521281.2:c.481T>C, XM_011521281.1:c.481T>A, XM_011521281.1:c.481T>C, XM_011521284.4:c.217T>A, XM_011521284.4:c.217T>C, XM_011521284.3:c.217T>A, XM_011521284.3:c.217T>C, XM_011521284.2:c.217T>A, XM_011521284.2:c.217T>C, XM_011521284.1:c.217T>A, XM_011521284.1:c.217T>C, XM_006720411.4:c.184T>A, XM_006720411.4:c.184T>C, XM_006720411.3:c.184T>A, XM_006720411.3:c.184T>C, XM_006720411.2:c.184T>A, XM_006720411.2:c.184T>C, XM_006720411.1:c.184T>A, XM_006720411.1:c.184T>C, NM_153356.3:c.481T>A, NM_153356.3:c.481T>C, NM_153356.2:c.481T>A, NM_153356.2:c.481T>C, NM_153356.1:c.481T>A, NM_153356.1:c.481T>C, XM_011521282.3:c.481T>A, XM_011521282.3:c.481T>C, XM_011521282.2:c.481T>A, XM_011521282.2:c.481T>C, XM_011521282.1:c.481T>A, XM_011521282.1:c.481T>C, XM_011521283.3:c.481T>A, XM_011521283.3:c.481T>C, XM_011521283.2:c.481T>A, XM_011521283.2:c.481T>C, XM_011521283.1:c.481T>A, XM_011521283.1:c.481T>C, NM_001286434.2:c.373T>A, NM_001286434.2:c.373T>C, NM_001286434.1:c.373T>A, NM_001286434.1:c.373T>C, XM_047432198.1:c.373T>A, XM_047432198.1:c.373T>C, XP_006720472.1:p.Tyr161Asn, XP_006720472.1:p.Tyr161His, XP_006720473.1:p.Tyr125Asn, XP_006720473.1:p.Tyr125His, XP_011519583.1:p.Tyr161Asn, XP_011519583.1:p.Tyr161His, XP_011519586.1:p.Tyr73Asn, XP_011519586.1:p.Tyr73His, XP_006720474.1:p.Tyr62Asn, XP_006720474.1:p.Tyr62His, NP_699187.1:p.Tyr161Asn, NP_699187.1:p.Tyr161His, XP_011519584.1:p.Tyr161Asn, XP_011519584.1:p.Tyr161His, XP_011519585.1:p.Tyr161Asn, XP_011519585.1:p.Tyr161His, NP_001273363.1:p.Tyr125Asn, NP_001273363.1:p.Tyr125His, XP_047288154.1:p.Tyr125Asn, XP_047288154.1:p.Tyr125His

Select item 14757700127.

rs1475770012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:73881721 (GRCh38)
15:74174062 (GRCh37)
Canonical SPDI:: NC_000015.10:73881720:G:T
Gene:: TBC1D21 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.73881721G>T, NC_000015.9:g.74174062G>T, XM_006720409.5:c.246G>T, XM_006720409.4:c.246G>T, XM_006720409.3:c.246G>T, XM_006720409.2:c.246G>T, XM_006720409.1:c.246G>T, XM_006720410.5:c.138G>T, XM_006720410.4:c.138G>T, XM_006720410.3:c.138G>T, XM_006720410.2:c.138G>T, XM_006720410.1:c.138G>T, XM_011521281.4:c.246G>T, XM_011521281.3:c.246G>T, XM_011521281.2:c.246G>T, XM_011521281.1:c.246G>T, XM_011521284.4:c.-19G>T, XM_011521284.3:c.-19G>T, XM_011521284.2:c.-19G>T, XM_011521284.1:c.-19G>T, NM_153356.3:c.246G>T, NM_153356.2:c.246G>T, NM_153356.1:c.246G>T, XM_011521282.3:c.246G>T, XM_011521282.2:c.246G>T, XM_011521282.1:c.246G>T, XM_011521283.3:c.246G>T, XM_011521283.2:c.246G>T, XM_011521283.1:c.246G>T, NM_001286434.2:c.138G>T, NM_001286434.1:c.138G>T, XM_047432198.1:c.138G>T, XP_006720472.1:p.Glu82Asp, XP_006720473.1:p.Glu46Asp, XP_011519583.1:p.Glu82Asp, NP_699187.1:p.Glu82Asp, XP_011519584.1:p.Glu82Asp, XP_011519585.1:p.Glu82Asp, NP_001273363.1:p.Glu46Asp, XP_047288154.1:p.Glu46Asp

Select item 14725977848.

rs1472597784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:73873718 (GRCh38)
15:74166059 (GRCh37)
Canonical SPDI:: NC_000015.10:73873717:C:A,NC_000015.10:73873717:C:T
Gene:: TBC1D21 (Varview), LOC102723657 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.73873718C>A, NC_000015.10:g.73873718C>T, NC_000015.9:g.74166059C>A, NC_000015.9:g.74166059C>T, XM_006720409.5:c.9C>A, XM_006720409.5:c.9C>T, XM_006720409.4:c.9C>A, XM_006720409.4:c.9C>T, XM_006720409.3:c.9C>A, XM_006720409.3:c.9C>T, XM_006720409.2:c.9C>A, XM_006720409.2:c.9C>T, XM_006720409.1:c.9C>A, XM_006720409.1:c.9C>T, XM_006720410.5:c.9C>A, XM_006720410.5:c.9C>T, XM_006720410.4:c.9C>A, XM_006720410.4:c.9C>T, XM_006720410.3:c.9C>A, XM_006720410.3:c.9C>T, XM_006720410.2:c.9C>A, XM_006720410.2:c.9C>T, XM_006720410.1:c.9C>A, XM_006720410.1:c.9C>T, XM_011521281.4:c.9C>A, XM_011521281.4:c.9C>T, XM_011521281.3:c.9C>A, XM_011521281.3:c.9C>T, XM_011521281.2:c.9C>A, XM_011521281.2:c.9C>T, XM_011521281.1:c.9C>A, XM_011521281.1:c.9C>T, XM_006720411.4:c.-77C>A, XM_006720411.4:c.-77C>T, XM_006720411.3:c.-77C>A, XM_006720411.3:c.-77C>T, XM_006720411.2:c.-77C>A, XM_006720411.2:c.-77C>T, XM_006720411.1:c.-77C>A, XM_006720411.1:c.-77C>T, NM_153356.3:c.9C>A, NM_153356.3:c.9C>T, NM_153356.2:c.9C>A, NM_153356.2:c.9C>T, NM_153356.1:c.9C>A, NM_153356.1:c.9C>T, XM_011521282.3:c.9C>A, XM_011521282.3:c.9C>T, XM_011521282.2:c.9C>A, XM_011521282.2:c.9C>T, XM_011521282.1:c.9C>A, XM_011521282.1:c.9C>T, XM_011521283.3:c.9C>A, XM_011521283.3:c.9C>T, XM_011521283.2:c.9C>A, XM_011521283.2:c.9C>T, XM_011521283.1:c.9C>A, XM_011521283.1:c.9C>T, NM_001286434.2:c.9C>A, NM_001286434.2:c.9C>T, NM_001286434.1:c.9C>A, NM_001286434.1:c.9C>T, XM_047432198.1:c.9C>A, XM_047432198.1:c.9C>T

Select item 14718553159.

rs1471855315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:73889084 (GRCh38)
15:74181425 (GRCh37)
Canonical SPDI:: NC_000015.10:73889083:A:G
Gene:: TBC1D21 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73889084A>G, NC_000015.9:g.74181425A>G, XM_006720409.5:c.*79A>G, XM_006720409.4:c.*79A>G, XM_006720410.5:c.*79A>G, XM_006720410.4:c.*79A>G, NM_153356.3:c.994A>G, NM_153356.2:c.994A>G, NM_153356.1:c.994A>G, NM_001286434.2:c.886A>G, NM_001286434.1:c.886A>G, NP_699187.1:p.Lys332Glu, NP_001273363.1:p.Lys296Glu

Select item 146382142510.

rs1463821425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:73886585 (GRCh38)
15:74178926 (GRCh37)
Canonical SPDI:: NC_000015.10:73886584:C:T
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000015.10:g.73886585C>T, NC_000015.9:g.74178926C>T, XM_006720409.5:c.750C>T, XM_006720409.4:c.750C>T, XM_006720409.3:c.750C>T, XM_006720409.2:c.750C>T, XM_006720409.1:c.750C>T, XM_006720410.5:c.642C>T, XM_006720410.4:c.642C>T, XM_006720410.3:c.642C>T, XM_006720410.2:c.642C>T, XM_006720410.1:c.642C>T, XM_011521281.4:c.750C>T, XM_011521281.3:c.750C>T, XM_011521281.2:c.750C>T, XM_011521281.1:c.750C>T, XM_011521284.4:c.486C>T, XM_011521284.3:c.486C>T, XM_011521284.2:c.486C>T, XM_011521284.1:c.486C>T, XM_006720411.4:c.453C>T, XM_006720411.3:c.453C>T, XM_006720411.2:c.453C>T, XM_006720411.1:c.453C>T, NM_153356.3:c.750C>T, NM_153356.2:c.750C>T, NM_153356.1:c.750C>T, XM_011521282.3:c.750C>T, XM_011521282.2:c.750C>T, XM_011521282.1:c.750C>T, XM_011521283.3:c.750C>T, XM_011521283.2:c.750C>T, XM_011521283.1:c.750C>T, NM_001286434.2:c.642C>T, NM_001286434.1:c.642C>T, XM_047432198.1:c.642C>T

Select item 146148747311.

rs1461487473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:73888437 (GRCh38)
15:74180778 (GRCh37)
Canonical SPDI:: NC_000015.10:73888436:A:G
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.73888437A>G, NC_000015.9:g.74180778A>G, XM_006720409.5:c.902A>G, XM_006720409.4:c.902A>G, XM_006720409.3:c.902A>G, XM_006720409.2:c.902A>G, XM_006720409.1:c.902A>G, XM_006720410.5:c.794A>G, XM_006720410.4:c.794A>G, XM_006720410.3:c.794A>G, XM_006720410.2:c.794A>G, XM_006720410.1:c.794A>G, XM_011521281.4:c.902A>G, XM_011521281.3:c.902A>G, XM_011521281.2:c.902A>G, XM_011521281.1:c.902A>G, XM_011521284.4:c.638A>G, XM_011521284.3:c.638A>G, XM_011521284.2:c.638A>G, XM_011521284.1:c.638A>G, XM_006720411.4:c.605A>G, XM_006720411.3:c.605A>G, XM_006720411.2:c.605A>G, XM_006720411.1:c.605A>G, NM_153356.3:c.902A>G, NM_153356.2:c.902A>G, NM_153356.1:c.902A>G, XM_011521282.3:c.902A>G, XM_011521282.2:c.902A>G, XM_011521282.1:c.902A>G, XM_011521283.3:c.902A>G, XM_011521283.2:c.902A>G, XM_011521283.1:c.902A>G, NM_001286434.2:c.794A>G, NM_001286434.1:c.794A>G, XM_047432198.1:c.794A>G, XP_006720472.1:p.Asn301Ser, XP_006720473.1:p.Asn265Ser, XP_011519583.1:p.Asn301Ser, XP_011519586.1:p.Asn213Ser, XP_006720474.1:p.Asn202Ser, NP_699187.1:p.Asn301Ser, XP_011519584.1:p.Asn301Ser, XP_011519585.1:p.Asn301Ser, NP_001273363.1:p.Asn265Ser, XP_047288154.1:p.Asn265Ser

Select item 146140746512.

rs1461407465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:73884838 (GRCh38)
15:74177179 (GRCh37)
Canonical SPDI:: NC_000015.10:73884837:A:G
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73884838A>G, NC_000015.9:g.74177179A>G, XM_006720409.5:c.425A>G, XM_006720409.4:c.425A>G, XM_006720409.3:c.425A>G, XM_006720409.2:c.425A>G, XM_006720409.1:c.425A>G, XM_006720410.5:c.317A>G, XM_006720410.4:c.317A>G, XM_006720410.3:c.317A>G, XM_006720410.2:c.317A>G, XM_006720410.1:c.317A>G, XM_011521281.4:c.425A>G, XM_011521281.3:c.425A>G, XM_011521281.2:c.425A>G, XM_011521281.1:c.425A>G, XM_011521284.4:c.161A>G, XM_011521284.3:c.161A>G, XM_011521284.2:c.161A>G, XM_011521284.1:c.161A>G, XM_006720411.4:c.128A>G, XM_006720411.3:c.128A>G, XM_006720411.2:c.128A>G, XM_006720411.1:c.128A>G, NM_153356.3:c.425A>G, NM_153356.2:c.425A>G, NM_153356.1:c.425A>G, XM_011521282.3:c.425A>G, XM_011521282.2:c.425A>G, XM_011521282.1:c.425A>G, XM_011521283.3:c.425A>G, XM_011521283.2:c.425A>G, XM_011521283.1:c.425A>G, NM_001286434.2:c.317A>G, NM_001286434.1:c.317A>G, XM_047432198.1:c.317A>G, XP_006720472.1:p.Lys142Arg, XP_006720473.1:p.Lys106Arg, XP_011519583.1:p.Lys142Arg, XP_011519586.1:p.Lys54Arg, XP_006720474.1:p.Lys43Arg, NP_699187.1:p.Lys142Arg, XP_011519584.1:p.Lys142Arg, XP_011519585.1:p.Lys142Arg, NP_001273363.1:p.Lys106Arg, XP_047288154.1:p.Lys106Arg

Select item 145889254813.

rs1458892548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:73887726 (GRCh38)
15:74180067 (GRCh37)
Canonical SPDI:: NC_000015.10:73887725:A:G
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000015.10:g.73887726A>G, NC_000015.9:g.74180067A>G, XM_006720409.5:c.884A>G, XM_006720409.4:c.884A>G, XM_006720409.3:c.884A>G, XM_006720409.2:c.884A>G, XM_006720409.1:c.884A>G, XM_006720410.5:c.776A>G, XM_006720410.4:c.776A>G, XM_006720410.3:c.776A>G, XM_006720410.2:c.776A>G, XM_006720410.1:c.776A>G, XM_011521281.4:c.884A>G, XM_011521281.3:c.884A>G, XM_011521281.2:c.884A>G, XM_011521281.1:c.884A>G, XM_011521284.4:c.620A>G, XM_011521284.3:c.620A>G, XM_011521284.2:c.620A>G, XM_011521284.1:c.620A>G, XM_006720411.4:c.587A>G, XM_006720411.3:c.587A>G, XM_006720411.2:c.587A>G, XM_006720411.1:c.587A>G, NM_153356.3:c.884A>G, NM_153356.2:c.884A>G, NM_153356.1:c.884A>G, XM_011521282.3:c.884A>G, XM_011521282.2:c.884A>G, XM_011521282.1:c.884A>G, XM_011521283.3:c.884A>G, XM_011521283.2:c.884A>G, XM_011521283.1:c.884A>G, NM_001286434.2:c.776A>G, NM_001286434.1:c.776A>G, XM_047432198.1:c.776A>G, XP_006720472.1:p.Asp295Gly, XP_006720473.1:p.Asp259Gly, XP_011519583.1:p.Asp295Gly, XP_011519586.1:p.Asp207Gly, XP_006720474.1:p.Asp196Gly, NP_699187.1:p.Asp295Gly, XP_011519584.1:p.Asp295Gly, XP_011519585.1:p.Asp295Gly, NP_001273363.1:p.Asp259Gly, XP_047288154.1:p.Asp259Gly

Select item 145090208314.

rs1450902083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:73884803 (GRCh38)
15:74177144 (GRCh37)
Canonical SPDI:: NC_000015.10:73884802:T:C
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000015.10:g.73884803T>C, NC_000015.9:g.74177144T>C, XM_006720409.5:c.390T>C, XM_006720409.4:c.390T>C, XM_006720409.3:c.390T>C, XM_006720409.2:c.390T>C, XM_006720409.1:c.390T>C, XM_006720410.5:c.282T>C, XM_006720410.4:c.282T>C, XM_006720410.3:c.282T>C, XM_006720410.2:c.282T>C, XM_006720410.1:c.282T>C, XM_011521281.4:c.390T>C, XM_011521281.3:c.390T>C, XM_011521281.2:c.390T>C, XM_011521281.1:c.390T>C, XM_011521284.4:c.126T>C, XM_011521284.3:c.126T>C, XM_011521284.2:c.126T>C, XM_011521284.1:c.126T>C, XM_006720411.4:c.93T>C, XM_006720411.3:c.93T>C, XM_006720411.2:c.93T>C, XM_006720411.1:c.93T>C, NM_153356.3:c.390T>C, NM_153356.2:c.390T>C, NM_153356.1:c.390T>C, XM_011521282.3:c.390T>C, XM_011521282.2:c.390T>C, XM_011521282.1:c.390T>C, XM_011521283.3:c.390T>C, XM_011521283.2:c.390T>C, XM_011521283.1:c.390T>C, NM_001286434.2:c.282T>C, NM_001286434.1:c.282T>C, XM_047432198.1:c.282T>C

Select item 144515798415.

rs1445157984 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 15:73884860 (GRCh38)
15:74177201 (GRCh37)
Canonical SPDI:: NC_000015.10:73884859:G:
Gene:: TBC1D21 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.73884860del, NC_000015.9:g.74177201del, XM_006720409.5:c.447del, XM_006720409.4:c.447del, XM_006720409.3:c.447del, XM_006720409.2:c.447del, XM_006720409.1:c.447del, XM_006720410.5:c.339del, XM_006720410.4:c.339del, XM_006720410.3:c.339del, XM_006720410.2:c.339del, XM_006720410.1:c.339del, XM_011521281.4:c.447del, XM_011521281.3:c.447del, XM_011521281.2:c.447del, XM_011521281.1:c.447del, XM_011521284.4:c.183del, XM_011521284.3:c.183del, XM_011521284.2:c.183del, XM_011521284.1:c.183del, XM_006720411.4:c.150del, XM_006720411.3:c.150del, XM_006720411.2:c.150del, XM_006720411.1:c.150del, NM_153356.3:c.447del, NM_153356.2:c.447del, NM_153356.1:c.447del, XM_011521282.3:c.447del, XM_011521282.2:c.447del, XM_011521282.1:c.447del, XM_011521283.3:c.447del, XM_011521283.2:c.447del, XM_011521283.1:c.447del, NM_001286434.2:c.339del, NM_001286434.1:c.339del, XM_047432198.1:c.339del, XP_006720472.1:p.Leu150fs, XP_006720473.1:p.Leu114fs, XP_011519583.1:p.Leu150fs, XP_011519586.1:p.Leu62fs, XP_006720474.1:p.Leu51fs, NP_699187.1:p.Leu150fs, XP_011519584.1:p.Leu150fs, XP_011519585.1:p.Leu150fs, NP_001273363.1:p.Leu114fs, XP_047288154.1:p.Leu114fs

Select item 144507015616.

rs1445070156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:73887703 (GRCh38)
15:74180044 (GRCh37)
Canonical SPDI:: NC_000015.10:73887702:G:A,NC_000015.10:73887702:G:T
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.73887703G>A, NC_000015.10:g.73887703G>T, NC_000015.9:g.74180044G>A, NC_000015.9:g.74180044G>T, XM_006720409.5:c.861G>A, XM_006720409.5:c.861G>T, XM_006720409.4:c.861G>A, XM_006720409.4:c.861G>T, XM_006720409.3:c.861G>A, XM_006720409.3:c.861G>T, XM_006720409.2:c.861G>A, XM_006720409.2:c.861G>T, XM_006720409.1:c.861G>A, XM_006720409.1:c.861G>T, XM_006720410.5:c.753G>A, XM_006720410.5:c.753G>T, XM_006720410.4:c.753G>A, XM_006720410.4:c.753G>T, XM_006720410.3:c.753G>A, XM_006720410.3:c.753G>T, XM_006720410.2:c.753G>A, XM_006720410.2:c.753G>T, XM_006720410.1:c.753G>A, XM_006720410.1:c.753G>T, XM_011521281.4:c.861G>A, XM_011521281.4:c.861G>T, XM_011521281.3:c.861G>A, XM_011521281.3:c.861G>T, XM_011521281.2:c.861G>A, XM_011521281.2:c.861G>T, XM_011521281.1:c.861G>A, XM_011521281.1:c.861G>T, XM_011521284.4:c.597G>A, XM_011521284.4:c.597G>T, XM_011521284.3:c.597G>A, XM_011521284.3:c.597G>T, XM_011521284.2:c.597G>A, XM_011521284.2:c.597G>T, XM_011521284.1:c.597G>A, XM_011521284.1:c.597G>T, XM_006720411.4:c.564G>A, XM_006720411.4:c.564G>T, XM_006720411.3:c.564G>A, XM_006720411.3:c.564G>T, XM_006720411.2:c.564G>A, XM_006720411.2:c.564G>T, XM_006720411.1:c.564G>A, XM_006720411.1:c.564G>T, NM_153356.3:c.861G>A, NM_153356.3:c.861G>T, NM_153356.2:c.861G>A, NM_153356.2:c.861G>T, NM_153356.1:c.861G>A, NM_153356.1:c.861G>T, XM_011521282.3:c.861G>A, XM_011521282.3:c.861G>T, XM_011521282.2:c.861G>A, XM_011521282.2:c.861G>T, XM_011521282.1:c.861G>A, XM_011521282.1:c.861G>T, XM_011521283.3:c.861G>A, XM_011521283.3:c.861G>T, XM_011521283.2:c.861G>A, XM_011521283.2:c.861G>T, XM_011521283.1:c.861G>A, XM_011521283.1:c.861G>T, NM_001286434.2:c.753G>A, NM_001286434.2:c.753G>T, NM_001286434.1:c.753G>A, NM_001286434.1:c.753G>T, XM_047432198.1:c.753G>A, XM_047432198.1:c.753G>T

Select item 144375574517.

rs1443755745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:73885049 (GRCh38)
15:74177390 (GRCh37)
Canonical SPDI:: NC_000015.10:73885048:G:T
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.73885049G>T, NC_000015.9:g.74177390G>T, XM_006720409.5:c.525G>T, XM_006720409.4:c.525G>T, XM_006720409.3:c.525G>T, XM_006720409.2:c.525G>T, XM_006720409.1:c.525G>T, XM_006720410.5:c.417G>T, XM_006720410.4:c.417G>T, XM_006720410.3:c.417G>T, XM_006720410.2:c.417G>T, XM_006720410.1:c.417G>T, XM_011521281.4:c.525G>T, XM_011521281.3:c.525G>T, XM_011521281.2:c.525G>T, XM_011521281.1:c.525G>T, XM_011521284.4:c.261G>T, XM_011521284.3:c.261G>T, XM_011521284.2:c.261G>T, XM_011521284.1:c.261G>T, XM_006720411.4:c.228G>T, XM_006720411.3:c.228G>T, XM_006720411.2:c.228G>T, XM_006720411.1:c.228G>T, NM_153356.3:c.525G>T, NM_153356.2:c.525G>T, NM_153356.1:c.525G>T, XM_011521282.3:c.525G>T, XM_011521282.2:c.525G>T, XM_011521282.1:c.525G>T, XM_011521283.3:c.525G>T, XM_011521283.2:c.525G>T, XM_011521283.1:c.525G>T, NM_001286434.2:c.417G>T, NM_001286434.1:c.417G>T, XM_047432198.1:c.417G>T, XP_006720472.1:p.Met175Ile, XP_006720473.1:p.Met139Ile, XP_011519583.1:p.Met175Ile, XP_011519586.1:p.Met87Ile, XP_006720474.1:p.Met76Ile, NP_699187.1:p.Met175Ile, XP_011519584.1:p.Met175Ile, XP_011519585.1:p.Met175Ile, NP_001273363.1:p.Met139Ile, XP_047288154.1:p.Met139Ile

Select item 144305820518.

rs1443058205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:73886607 (GRCh38)
15:74178948 (GRCh37)
Canonical SPDI:: NC_000015.10:73886606:T:C
Gene:: TBC1D21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.73886607T>C, NC_000015.9:g.74178948T>C, XM_006720409.5:c.772T>C, XM_006720409.4:c.772T>C, XM_006720409.3:c.772T>C, XM_006720409.2:c.772T>C, XM_006720409.1:c.772T>C, XM_006720410.5:c.664T>C, XM_006720410.4:c.664T>C, XM_006720410.3:c.664T>C, XM_006720410.2:c.664T>C, XM_006720410.1:c.664T>C, XM_011521281.4:c.772T>C, XM_011521281.3:c.772T>C, XM_011521281.2:c.772T>C, XM_011521281.1:c.772T>C, XM_011521284.4:c.508T>C, XM_011521284.3:c.508T>C, XM_011521284.2:c.508T>C, XM_011521284.1:c.508T>C, XM_006720411.4:c.475T>C, XM_006720411.3:c.475T>C, XM_006720411.2:c.475T>C, XM_006720411.1:c.475T>C, NM_153356.3:c.772T>C, NM_153356.2:c.772T>C, NM_153356.1:c.772T>C, XM_011521282.3:c.772T>C, XM_011521282.2:c.772T>C, XM_011521282.1:c.772T>C, XM_011521283.3:c.772T>C, XM_011521283.2:c.772T>C, XM_011521283.1:c.772T>C, NM_001286434.2:c.664T>C, NM_001286434.1:c.664T>C, XM_047432198.1:c.664T>C, XP_006720472.1:p.Trp258Arg, XP_006720473.1:p.Trp222Arg, XP_011519583.1:p.Trp258Arg, XP_011519586.1:p.Trp170Arg, XP_006720474.1:p.Trp159Arg, NP_699187.1:p.Trp258Arg, XP_011519584.1:p.Trp258Arg, XP_011519585.1:p.Trp258Arg, NP_001273363.1:p.Trp222Arg, XP_047288154.1:p.Trp222Arg

Select item 143939170219.

rs1439391702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:73889074 (GRCh38)
15:74181415 (GRCh37)
Canonical SPDI:: NC_000015.10:73889073:T:A
Gene:: TBC1D21 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.73889074T>A, NC_000015.9:g.74181415T>A, XM_006720409.5:c.*69T>A, XM_006720409.4:c.*69T>A, XM_006720410.5:c.*69T>A, XM_006720410.4:c.*69T>A, NM_153356.3:c.984T>A, NM_153356.2:c.984T>A, NM_153356.1:c.984T>A, NM_001286434.2:c.876T>A, NM_001286434.1:c.876T>A

Select item 143831103220.

rs1438311032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:73888512 (GRCh38)
15:74180853 (GRCh37)
Canonical SPDI:: NC_000015.10:73888511:A:T
Gene:: TBC1D21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73888512A>T, NC_000015.9:g.74180853A>T, XM_006720409.5:c.977A>T, XM_006720409.4:c.977A>T, XM_006720409.3:c.977A>T, XM_006720409.2:c.977A>T, XM_006720409.1:c.977A>T, XM_006720410.5:c.869A>T, XM_006720410.4:c.869A>T, XM_006720410.3:c.869A>T, XM_006720410.2:c.869A>T, XM_006720410.1:c.869A>T, XM_011521281.4:c.977A>T, XM_011521281.3:c.977A>T, XM_011521281.2:c.977A>T, XM_011521281.1:c.977A>T, XM_011521284.4:c.713A>T, XM_011521284.3:c.713A>T, XM_011521284.2:c.713A>T, XM_011521284.1:c.713A>T, XM_006720411.4:c.680A>T, XM_006720411.3:c.680A>T, XM_006720411.2:c.680A>T, XM_006720411.1:c.680A>T, NM_153356.3:c.977A>T, NM_153356.2:c.977A>T, NM_153356.1:c.977A>T, XM_011521282.3:c.977A>T, XM_011521282.2:c.977A>T, XM_011521282.1:c.977A>T, XM_011521283.3:c.977A>T, XM_011521283.2:c.977A>T, XM_011521283.1:c.977A>T, NM_001286434.2:c.869A>T, NM_001286434.1:c.869A>T, XM_047432198.1:c.869A>T, XP_006720472.1:p.Asp326Val, XP_006720473.1:p.Asp290Val, XP_011519583.1:p.Asp326Val, XP_011519586.1:p.Asp238Val, XP_006720474.1:p.Asp227Val, NP_699187.1:p.Asp326Val, XP_011519584.1:p.Asp326Val, XP_011519585.1:p.Asp326Val, NP_001273363.1:p.Asp290Val, XP_047288154.1:p.Asp290Val

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