SNP Links for Protein (Select 578823378) - SNP

Select item 14885979181.

rs1488597918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:110884219 (GRCh38)
12:111322023 (GRCh37)
Canonical SPDI:: NC_000012.12:110884218:A:C
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110884219A>C, NC_000012.11:g.111322023A>C, XM_011538001.3:c.1043A>C, XM_011538001.2:c.1043A>C, XM_011538001.1:c.1043A>C, XM_006719263.3:c.1043A>C, XM_006719263.2:c.1043A>C, XM_006719263.1:c.1043A>C, NM_152591.3:c.1043A>C, NM_152591.2:c.1043A>C, NM_152591.1:c.1043A>C, XM_011537999.2:c.1043A>C, XM_011537999.1:c.1043A>C, NM_001286243.2:c.923A>C, NM_001286243.1:c.923A>C, NM_001286244.2:c.806A>C, NM_001286244.1:c.806A>C, XM_047428443.1:c.1043A>C, XM_047428442.1:c.1043A>C, XP_011536303.1:p.Glu348Ala, XP_006719326.1:p.Glu348Ala, NP_689804.1:p.Glu348Ala, XP_011536301.1:p.Glu348Ala, NP_001273172.1:p.Glu308Ala, NP_001273173.1:p.Glu269Ala, XP_047284399.1:p.Glu348Ala, XP_047284398.1:p.Glu348Ala

Select item 14854424432.

rs1485442443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:110899065 (GRCh38)
12:111336869 (GRCh37)
Canonical SPDI:: NC_000012.12:110899064:A:C,NC_000012.12:110899064:A:T
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.110899065A>C, NC_000012.12:g.110899065A>T, NC_000012.11:g.111336869A>C, NC_000012.11:g.111336869A>T, XM_011538001.3:c.1282A>C, XM_011538001.3:c.1282A>T, XM_011538001.2:c.1282A>C, XM_011538001.2:c.1282A>T, XM_011538001.1:c.1282A>C, XM_011538001.1:c.1282A>T, XM_006719263.3:c.1282A>C, XM_006719263.3:c.1282A>T, XM_006719263.2:c.1282A>C, XM_006719263.2:c.1282A>T, XM_006719263.1:c.1282A>C, XM_006719263.1:c.1282A>T, NM_152591.3:c.1282A>C, NM_152591.3:c.1282A>T, NM_152591.2:c.1282A>C, NM_152591.2:c.1282A>T, NM_152591.1:c.1282A>C, NM_152591.1:c.1282A>T, XM_011537999.2:c.1282A>C, XM_011537999.2:c.1282A>T, XM_011537999.1:c.1282A>C, XM_011537999.1:c.1282A>T, NM_001286243.2:c.1162A>C, NM_001286243.2:c.1162A>T, NM_001286243.1:c.1162A>C, NM_001286243.1:c.1162A>T, NM_001286244.2:c.1045A>C, NM_001286244.2:c.1045A>T, NM_001286244.1:c.1045A>C, NM_001286244.1:c.1045A>T, XM_047428443.1:c.1282A>C, XM_047428443.1:c.1282A>T, XM_047428442.1:c.1282A>C, XM_047428442.1:c.1282A>T, XP_011536303.1:p.Ile428Leu, XP_011536303.1:p.Ile428Phe, XP_006719326.1:p.Ile428Leu, XP_006719326.1:p.Ile428Phe, NP_689804.1:p.Ile428Leu, NP_689804.1:p.Ile428Phe, XP_011536301.1:p.Ile428Leu, XP_011536301.1:p.Ile428Phe, NP_001273172.1:p.Ile388Leu, NP_001273172.1:p.Ile388Phe, NP_001273173.1:p.Ile349Leu, NP_001273173.1:p.Ile349Phe, XP_047284399.1:p.Ile428Leu, XP_047284399.1:p.Ile428Phe, XP_047284398.1:p.Ile428Leu, XP_047284398.1:p.Ile428Phe

Select item 14852037623.

rs1485203762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110898975 (GRCh38)
12:111336779 (GRCh37)
Canonical SPDI:: NC_000012.12:110898974:A:G
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110898975A>G, NC_000012.11:g.111336779A>G, XM_011538001.3:c.1192A>G, XM_011538001.2:c.1192A>G, XM_011538001.1:c.1192A>G, XM_006719263.3:c.1192A>G, XM_006719263.2:c.1192A>G, XM_006719263.1:c.1192A>G, NM_152591.3:c.1192A>G, NM_152591.2:c.1192A>G, NM_152591.1:c.1192A>G, XM_011537999.2:c.1192A>G, XM_011537999.1:c.1192A>G, NM_001286243.2:c.1072A>G, NM_001286243.1:c.1072A>G, NM_001286244.2:c.955A>G, NM_001286244.1:c.955A>G, XM_047428443.1:c.1192A>G, XM_047428442.1:c.1192A>G, XP_011536303.1:p.Ser398Gly, XP_006719326.1:p.Ser398Gly, NP_689804.1:p.Ser398Gly, XP_011536301.1:p.Ser398Gly, NP_001273172.1:p.Ser358Gly, NP_001273173.1:p.Ser319Gly, XP_047284399.1:p.Ser398Gly, XP_047284398.1:p.Ser398Gly

Select item 14849282354.

rs1484928235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:110881188 (GRCh38)
12:111318992 (GRCh37)
Canonical SPDI:: NC_000012.12:110881187:A:T
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110881188A>T, NC_000012.11:g.111318992A>T, XM_011538001.3:c.745A>T, XM_011538001.2:c.745A>T, XM_011538001.1:c.745A>T, XM_006719263.3:c.745A>T, XM_006719263.2:c.745A>T, XM_006719263.1:c.745A>T, NM_152591.3:c.745A>T, NM_152591.2:c.745A>T, NM_152591.1:c.745A>T, XM_011537999.2:c.745A>T, XM_011537999.1:c.745A>T, NM_001286243.2:c.625A>T, NM_001286243.1:c.625A>T, NM_001286244.2:c.508A>T, NM_001286244.1:c.508A>T, XM_047428443.1:c.745A>T, XM_047428442.1:c.745A>T, XP_011536303.1:p.Ile249Phe, XP_006719326.1:p.Ile249Phe, NP_689804.1:p.Ile249Phe, XP_011536301.1:p.Ile249Phe, NP_001273172.1:p.Ile209Phe, NP_001273173.1:p.Ile170Phe, XP_047284399.1:p.Ile249Phe, XP_047284398.1:p.Ile249Phe

Select item 14778805955.

rs1477880595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110884052 (GRCh38)
12:111321856 (GRCh37)
Canonical SPDI:: NC_000012.12:110884051:C:T
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110884052C>T, NC_000012.11:g.111321856C>T, XM_011538001.3:c.876C>T, XM_011538001.2:c.876C>T, XM_011538001.1:c.876C>T, XM_006719263.3:c.876C>T, XM_006719263.2:c.876C>T, XM_006719263.1:c.876C>T, NM_152591.3:c.876C>T, NM_152591.2:c.876C>T, NM_152591.1:c.876C>T, XM_011537999.2:c.876C>T, XM_011537999.1:c.876C>T, NM_001286243.2:c.756C>T, NM_001286243.1:c.756C>T, NM_001286244.2:c.639C>T, NM_001286244.1:c.639C>T, XM_047428443.1:c.876C>T, XM_047428442.1:c.876C>T

Select item 14778746606.

rs1477874660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110873899 (GRCh38)
12:111311703 (GRCh37)
Canonical SPDI:: NC_000012.12:110873898:G:A
Gene:: CCDC63 (Varview)
Functional Consequence:: 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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.110873899G>A, NC_000012.11:g.111311703G>A, XM_011538001.3:c.427G>A, XM_011538001.2:c.427G>A, XM_011538001.1:c.427G>A, XM_006719263.3:c.427G>A, XM_006719263.2:c.427G>A, XM_006719263.1:c.427G>A, NM_152591.3:c.427G>A, NM_152591.2:c.427G>A, NM_152591.1:c.427G>A, XM_011537999.2:c.427G>A, XM_011537999.1:c.427G>A, NM_001286243.2:c.307G>A, NM_001286243.1:c.307G>A, NM_001286244.2:c.190G>A, NM_001286244.1:c.190G>A, XM_047428443.1:c.427G>A, XM_047428442.1:c.427G>A, XP_011536303.1:p.Glu143Lys, XP_006719326.1:p.Glu143Lys, NP_689804.1:p.Glu143Lys, XP_011536301.1:p.Glu143Lys, NP_001273172.1:p.Glu103Lys, NP_001273173.1:p.Glu64Lys, XP_047284399.1:p.Glu143Lys, XP_047284398.1:p.Glu143Lys

Select item 14771389307.

rs1477138930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110904708 (GRCh38)
12:111342512 (GRCh37)
Canonical SPDI:: NC_000012.12:110904707:C:T
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110904708C>T, NC_000012.11:g.111342512C>T, XM_011538001.3:c.1463C>T, XM_011538001.2:c.1463C>T, XM_011538001.1:c.1463C>T, XM_006719263.3:c.1463C>T, XM_006719263.2:c.1463C>T, XM_006719263.1:c.1463C>T, NM_152591.3:c.1463C>T, NM_152591.2:c.1463C>T, NM_152591.1:c.1463C>T, XM_011537999.2:c.1463C>T, XM_011537999.1:c.1463C>T, NM_001286243.2:c.1343C>T, NM_001286243.1:c.1343C>T, NM_001286244.2:c.1226C>T, NM_001286244.1:c.1226C>T, XM_047428443.1:c.1463C>T, XM_047428442.1:c.1463C>T, XP_011536303.1:p.Ser488Phe, XP_006719326.1:p.Ser488Phe, NP_689804.1:p.Ser488Phe, XP_011536301.1:p.Ser488Phe, NP_001273172.1:p.Ser448Phe, NP_001273173.1:p.Ser409Phe, XP_047284399.1:p.Ser488Phe, XP_047284398.1:p.Ser488Phe

Select item 14715308978.

rs1471530897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110853481 (GRCh38)
12:111291285 (GRCh37)
Canonical SPDI:: NC_000012.12:110853480:C:T
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.110853481C>T, NC_000012.11:g.111291285C>T, XM_011538001.3:c.86C>T, XM_011538001.2:c.86C>T, XM_011538001.1:c.86C>T, XM_006719263.3:c.86C>T, XM_006719263.2:c.86C>T, XM_006719263.1:c.86C>T, NM_152591.3:c.86C>T, NM_152591.2:c.86C>T, NM_152591.1:c.86C>T, XM_011537999.2:c.86C>T, XM_011537999.1:c.86C>T, NM_001286243.2:c.-35C>T, NM_001286243.1:c.-35C>T, XM_047428443.1:c.86C>T, XM_047428442.1:c.86C>T, XP_011536303.1:p.Ala29Val, XP_006719326.1:p.Ala29Val, NP_689804.1:p.Ala29Val, XP_011536301.1:p.Ala29Val, XP_047284399.1:p.Ala29Val, XP_047284398.1:p.Ala29Val

Select item 14693085109.

rs1469308510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110880078 (GRCh38)
12:111317882 (GRCh37)
Canonical SPDI:: NC_000012.12:110880077:A:G
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.110880078A>G, NC_000012.11:g.111317882A>G, XM_011538001.3:c.662A>G, XM_011538001.2:c.662A>G, XM_011538001.1:c.662A>G, XM_006719263.3:c.662A>G, XM_006719263.2:c.662A>G, XM_006719263.1:c.662A>G, NM_152591.3:c.662A>G, NM_152591.2:c.662A>G, NM_152591.1:c.662A>G, XM_011537999.2:c.662A>G, XM_011537999.1:c.662A>G, NM_001286243.2:c.542A>G, NM_001286243.1:c.542A>G, NM_001286244.2:c.425A>G, NM_001286244.1:c.425A>G, XM_047428443.1:c.662A>G, XM_047428442.1:c.662A>G, XP_011536303.1:p.Tyr221Cys, XP_006719326.1:p.Tyr221Cys, NP_689804.1:p.Tyr221Cys, XP_011536301.1:p.Tyr221Cys, NP_001273172.1:p.Tyr181Cys, NP_001273173.1:p.Tyr142Cys, XP_047284399.1:p.Tyr221Cys, XP_047284398.1:p.Tyr221Cys

Select item 146706425610.

rs1467064256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:110899100 (GRCh38)
12:111336904 (GRCh37)
Canonical SPDI:: NC_000012.12:110899099:T:C
Gene:: CCDC63 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110899100T>C, NC_000012.11:g.111336904T>C, XM_011538001.3:c.1317T>C, XM_011538001.2:c.1317T>C, XM_011538001.1:c.1317T>C, XM_006719263.3:c.1317T>C, XM_006719263.2:c.1317T>C, XM_006719263.1:c.1317T>C, NM_152591.3:c.1317T>C, NM_152591.2:c.1317T>C, NM_152591.1:c.1317T>C, XM_011537999.2:c.1317T>C, XM_011537999.1:c.1317T>C, NM_001286243.2:c.1197T>C, NM_001286243.1:c.1197T>C, NM_001286244.2:c.1080T>C, NM_001286244.1:c.1080T>C, XM_047428443.1:c.1317T>C, XM_047428442.1:c.1317T>C

Select item 146462502811.

rs1464625028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110879988 (GRCh38)
12:111317792 (GRCh37)
Canonical SPDI:: NC_000012.12:110879987:C:T
Gene:: CCDC63 (Varview)
Functional Consequence:: 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_000012.12:g.110879988C>T, NC_000012.11:g.111317792C>T, XM_011538001.3:c.572C>T, XM_011538001.2:c.572C>T, XM_011538001.1:c.572C>T, XM_006719263.3:c.572C>T, XM_006719263.2:c.572C>T, XM_006719263.1:c.572C>T, NM_152591.3:c.572C>T, NM_152591.2:c.572C>T, NM_152591.1:c.572C>T, XM_011537999.2:c.572C>T, XM_011537999.1:c.572C>T, NM_001286243.2:c.452C>T, NM_001286243.1:c.452C>T, NM_001286244.2:c.335C>T, NM_001286244.1:c.335C>T, XM_047428443.1:c.572C>T, XM_047428442.1:c.572C>T, XP_011536303.1:p.Ala191Val, XP_006719326.1:p.Ala191Val, NP_689804.1:p.Ala191Val, XP_011536301.1:p.Ala191Val, NP_001273172.1:p.Ala151Val, NP_001273173.1:p.Ala112Val, XP_047284399.1:p.Ala191Val, XP_047284398.1:p.Ala191Val

Select item 146079495512.

rs1460794955 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:110893142 (GRCh38)
12:111330946 (GRCh37)
Canonical SPDI:: NC_000012.12:110893141:C:
Gene:: CCDC63 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110893142del, NC_000012.11:g.111330946del, XM_011538001.3:c.1141del, XM_011538001.2:c.1141del, XM_011538001.1:c.1141del, XM_006719263.3:c.1141del, XM_006719263.2:c.1141del, XM_006719263.1:c.1141del, NM_152591.3:c.1141del, NM_152591.2:c.1141del, NM_152591.1:c.1141del, XM_011537999.2:c.1141del, XM_011537999.1:c.1141del, NM_001286243.2:c.1021del, NM_001286243.1:c.1021del, NM_001286244.2:c.904del, NM_001286244.1:c.904del, XM_047428443.1:c.1141del, XM_047428442.1:c.1141del, XP_011536303.1:p.Gln381fs, XP_006719326.1:p.Gln381fs, NP_689804.1:p.Gln381fs, XP_011536301.1:p.Gln381fs, NP_001273172.1:p.Gln341fs, NP_001273173.1:p.Gln302fs, XP_047284399.1:p.Gln381fs, XP_047284398.1:p.Gln381fs

Select item 145965743313.

rs1459657433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110884078 (GRCh38)
12:111321882 (GRCh37)
Canonical SPDI:: NC_000012.12:110884077:A:G
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110884078A>G, NC_000012.11:g.111321882A>G, XM_011538001.3:c.902A>G, XM_011538001.2:c.902A>G, XM_011538001.1:c.902A>G, XM_006719263.3:c.902A>G, XM_006719263.2:c.902A>G, XM_006719263.1:c.902A>G, NM_152591.3:c.902A>G, NM_152591.2:c.902A>G, NM_152591.1:c.902A>G, XM_011537999.2:c.902A>G, XM_011537999.1:c.902A>G, NM_001286243.2:c.782A>G, NM_001286243.1:c.782A>G, NM_001286244.2:c.665A>G, NM_001286244.1:c.665A>G, XM_047428443.1:c.902A>G, XM_047428442.1:c.902A>G, XP_011536303.1:p.Glu301Gly, XP_006719326.1:p.Glu301Gly, NP_689804.1:p.Glu301Gly, XP_011536301.1:p.Glu301Gly, NP_001273172.1:p.Glu261Gly, NP_001273173.1:p.Glu222Gly, XP_047284399.1:p.Glu301Gly, XP_047284398.1:p.Glu301Gly

Select item 145489660114.

rs1454896601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110881218 (GRCh38)
12:111319022 (GRCh37)
Canonical SPDI:: NC_000012.12:110881217:G:A
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.110881218G>A, NC_000012.11:g.111319022G>A, XM_011538001.3:c.775G>A, XM_011538001.2:c.775G>A, XM_011538001.1:c.775G>A, XM_006719263.3:c.775G>A, XM_006719263.2:c.775G>A, XM_006719263.1:c.775G>A, NM_152591.3:c.775G>A, NM_152591.2:c.775G>A, NM_152591.1:c.775G>A, XM_011537999.2:c.775G>A, XM_011537999.1:c.775G>A, NM_001286243.2:c.655G>A, NM_001286243.1:c.655G>A, NM_001286244.2:c.538G>A, NM_001286244.1:c.538G>A, XM_047428443.1:c.775G>A, XM_047428442.1:c.775G>A, XP_011536303.1:p.Glu259Lys, XP_006719326.1:p.Glu259Lys, NP_689804.1:p.Glu259Lys, XP_011536301.1:p.Glu259Lys, NP_001273172.1:p.Glu219Lys, NP_001273173.1:p.Glu180Lys, XP_047284399.1:p.Glu259Lys, XP_047284398.1:p.Glu259Lys

Select item 145221739915.

rs1452217399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110904637 (GRCh38)
12:111342441 (GRCh37)
Canonical SPDI:: NC_000012.12:110904636:G:A
Gene:: CCDC63 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.110904637G>A, NC_000012.11:g.111342441G>A, XM_011538001.3:c.1392G>A, XM_011538001.2:c.1392G>A, XM_011538001.1:c.1392G>A, XM_006719263.3:c.1392G>A, XM_006719263.2:c.1392G>A, XM_006719263.1:c.1392G>A, NM_152591.3:c.1392G>A, NM_152591.2:c.1392G>A, NM_152591.1:c.1392G>A, XM_011537999.2:c.1392G>A, XM_011537999.1:c.1392G>A, NM_001286243.2:c.1272G>A, NM_001286243.1:c.1272G>A, NM_001286244.2:c.1155G>A, NM_001286244.1:c.1155G>A, XM_047428443.1:c.1392G>A, XM_047428442.1:c.1392G>A

Select item 145130266616.

rs1451302666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110893077 (GRCh38)
12:111330881 (GRCh37)
Canonical SPDI:: NC_000012.12:110893076:A:G
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110893077A>G, NC_000012.11:g.111330881A>G, XM_011538001.3:c.1076A>G, XM_011538001.2:c.1076A>G, XM_011538001.1:c.1076A>G, XM_006719263.3:c.1076A>G, XM_006719263.2:c.1076A>G, XM_006719263.1:c.1076A>G, NM_152591.3:c.1076A>G, NM_152591.2:c.1076A>G, NM_152591.1:c.1076A>G, XM_011537999.2:c.1076A>G, XM_011537999.1:c.1076A>G, NM_001286243.2:c.956A>G, NM_001286243.1:c.956A>G, NM_001286244.2:c.839A>G, NM_001286244.1:c.839A>G, XM_047428443.1:c.1076A>G, XM_047428442.1:c.1076A>G, XP_011536303.1:p.Asp359Gly, XP_006719326.1:p.Asp359Gly, NP_689804.1:p.Asp359Gly, XP_011536301.1:p.Asp359Gly, NP_001273172.1:p.Asp319Gly, NP_001273173.1:p.Asp280Gly, XP_047284399.1:p.Asp359Gly, XP_047284398.1:p.Asp359Gly

Select item 144362155717.

rs1443621557 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:110873871 (GRCh38)
12:111311675 (GRCh37)
Canonical SPDI:: NC_000012.12:110873870:CC:C
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000094/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.110873872del, NC_000012.11:g.111311676del, XM_011538001.3:c.400del, XM_011538001.2:c.400del, XM_011538001.1:c.400del, XM_006719263.3:c.400del, XM_006719263.2:c.400del, XM_006719263.1:c.400del, NM_152591.3:c.400del, NM_152591.2:c.400del, NM_152591.1:c.400del, XM_011537999.2:c.400del, XM_011537999.1:c.400del, NM_001286243.2:c.280del, NM_001286243.1:c.280del, NM_001286244.2:c.163del, NM_001286244.1:c.163del, XM_047428443.1:c.400del, XM_047428442.1:c.400del, XP_011536303.1:p.Gln134fs, XP_006719326.1:p.Gln134fs, NP_689804.1:p.Gln134fs, XP_011536301.1:p.Gln134fs, NP_001273172.1:p.Gln94fs, NP_001273173.1:p.Gln55fs, XP_047284399.1:p.Gln134fs, XP_047284398.1:p.Gln134fs

Select item 143752934318.

rs1437529343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110899101 (GRCh38)
12:111336905 (GRCh37)
Canonical SPDI:: NC_000012.12:110899100:G:A
Gene:: CCDC63 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110899101G>A, NC_000012.11:g.111336905G>A, XM_011538001.3:c.1318G>A, XM_011538001.2:c.1318G>A, XM_011538001.1:c.1318G>A, XM_006719263.3:c.1318G>A, XM_006719263.2:c.1318G>A, XM_006719263.1:c.1318G>A, NM_152591.3:c.1318G>A, NM_152591.2:c.1318G>A, NM_152591.1:c.1318G>A, XM_011537999.2:c.1318G>A, XM_011537999.1:c.1318G>A, NM_001286243.2:c.1198G>A, NM_001286243.1:c.1198G>A, NM_001286244.2:c.1081G>A, NM_001286244.1:c.1081G>A, XM_047428443.1:c.1318G>A, XM_047428442.1:c.1318G>A, XP_011536303.1:p.Asp440Asn, XP_006719326.1:p.Asp440Asn, NP_689804.1:p.Asp440Asn, XP_011536301.1:p.Asp440Asn, NP_001273172.1:p.Asp400Asn, NP_001273173.1:p.Asp361Asn, XP_047284399.1:p.Asp440Asn, XP_047284398.1:p.Asp440Asn

Select item 143537497819.

rs1435374978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110879926 (GRCh38)
12:111317730 (GRCh37)
Canonical SPDI:: NC_000012.12:110879925:G:A
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.110879926G>A, NC_000012.11:g.111317730G>A, XM_011538001.3:c.510G>A, XM_011538001.2:c.510G>A, XM_011538001.1:c.510G>A, XM_006719263.3:c.510G>A, XM_006719263.2:c.510G>A, XM_006719263.1:c.510G>A, NM_152591.3:c.510G>A, NM_152591.2:c.510G>A, NM_152591.1:c.510G>A, XM_011537999.2:c.510G>A, XM_011537999.1:c.510G>A, NM_001286243.2:c.390G>A, NM_001286243.1:c.390G>A, NM_001286244.2:c.273G>A, NM_001286244.1:c.273G>A, XM_047428443.1:c.510G>A, XM_047428442.1:c.510G>A

Select item 143314694320.

rs1433146943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110858691 (GRCh38)
12:111296495 (GRCh37)
Canonical SPDI:: NC_000012.12:110858690:G:A
Gene:: CCDC63 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110858691G>A, NC_000012.11:g.111296495G>A, XM_011538001.3:c.285G>A, XM_011538001.2:c.285G>A, XM_011538001.1:c.285G>A, XM_006719263.3:c.285G>A, XM_006719263.2:c.285G>A, XM_006719263.1:c.285G>A, NM_152591.3:c.285G>A, NM_152591.2:c.285G>A, NM_152591.1:c.285G>A, XM_011537999.2:c.285G>A, XM_011537999.1:c.285G>A, NM_001286243.2:c.165G>A, NM_001286243.1:c.165G>A, NM_001286244.2:c.48G>A, NM_001286244.1:c.48G>A, XM_047428443.1:c.285G>A, XM_047428442.1:c.285G>A

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Result Filters

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Items: 1 to 20 of 521

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