SNP Links for Protein (Select 1034593675) - SNP

Select item 14908724971.

rs1490872497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67653120 (GRCh38)
16:67687023 (GRCh37)
Canonical SPDI:: NC_000016.10:67653119:G:A
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000038/10 (TOPMED)
A=0.000044/6 (GnomAD)
HGVS:: NC_000016.10:g.67653120G>A, NC_000016.9:g.67687023G>A, NG_054728.1:g.13202G>A, NM_001013838.3:c.2986G>A, NM_001013838.2:c.2986G>A, NM_001013838.1:c.2986G>A, NM_001317026.3:c.2878G>A, NM_001317026.2:c.2878G>A, NM_001317026.1:c.2878G>A, XM_011522875.3:c.2893G>A, XM_011522875.2:c.2893G>A, XM_011522875.1:c.979G>A, XM_017022953.2:c.2893G>A, XM_017022953.1:c.2893G>A, XM_011522874.2:c.2893G>A, XM_011522874.1:c.2893G>A, XM_047433644.1:c.2878G>A, XM_047433645.1:c.2878G>A, NP_001013860.1:p.Ala996Thr, NP_001303955.1:p.Ala960Thr, XP_011521177.2:p.Ala965Thr, XP_016878442.1:p.Ala965Thr, XP_011521176.1:p.Ala965Thr, XP_047289600.1:p.Ala960Thr, XP_047289601.1:p.Ala960Thr

Select item 14893832572.

rs1489383257 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:67648925 (GRCh38)
16:67682829 (GRCh37)
Canonical SPDI:: NC_000016.10:67648925:TT:TTT
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67648927dup, NC_000016.9:g.67682830dup, NG_054728.1:g.9009dup, NM_001013838.3:c.1544dup, NM_001013838.2:c.1544dup, NM_001013838.1:c.1544dup, NM_001317026.3:c.1436dup, NM_001317026.2:c.1436dup, NM_001317026.1:c.1436dup, XM_011522875.3:c.1451dup, XM_011522875.2:c.1451dup, XM_017022953.2:c.1451dup, XM_017022953.1:c.1451dup, XM_011522874.2:c.1451dup, XM_011522874.1:c.1451dup, XM_047433644.1:c.1436dup, XM_047433645.1:c.1436dup, NP_001013860.1:p.Leu515fs, NP_001303955.1:p.Leu479fs, XP_011521177.2:p.Leu484fs, XP_016878442.1:p.Leu484fs, XP_011521176.1:p.Leu484fs, XP_047289600.1:p.Leu479fs, XP_047289601.1:p.Leu479fs

Select item 14883434053.

rs1488343405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67648723 (GRCh38)
16:67682626 (GRCh37)
Canonical SPDI:: NC_000016.10:67648722:G:A
Gene:: CARMIL2 (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=0.00003/8 (TOPMED)
HGVS:: NC_000016.10:g.67648723G>A, NC_000016.9:g.67682626G>A, NG_054728.1:g.8805G>A, NM_001013838.3:c.1478G>A, NM_001013838.2:c.1478G>A, NM_001013838.1:c.1478G>A, NM_001317026.3:c.1370G>A, NM_001317026.2:c.1370G>A, NM_001317026.1:c.1370G>A, XM_011522875.3:c.1385G>A, XM_011522875.2:c.1385G>A, XM_017022953.2:c.1385G>A, XM_017022953.1:c.1385G>A, XM_011522874.2:c.1385G>A, XM_011522874.1:c.1385G>A, XM_047433644.1:c.1370G>A, XM_047433645.1:c.1370G>A, NP_001013860.1:p.Arg493His, NP_001303955.1:p.Arg457His, XP_011521177.2:p.Arg462His, XP_016878442.1:p.Arg462His, XP_011521176.1:p.Arg462His, XP_047289600.1:p.Arg457His, XP_047289601.1:p.Arg457His

Select item 14881378364.

rs1488137836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:67646778 (GRCh38)
16:67680681 (GRCh37)
Canonical SPDI:: NC_000016.10:67646777:T:A,NC_000016.10:67646777:T:C
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67646778T>A, NC_000016.10:g.67646778T>C, NC_000016.9:g.67680681T>A, NC_000016.9:g.67680681T>C, NG_054728.1:g.6860T>A, NG_054728.1:g.6860T>C, NM_001013838.3:c.531T>A, NM_001013838.3:c.531T>C, NM_001013838.2:c.531T>A, NM_001013838.2:c.531T>C, NM_001013838.1:c.531T>A, NM_001013838.1:c.531T>C, NM_001317026.3:c.531T>A, NM_001317026.3:c.531T>C, NM_001317026.2:c.531T>A, NM_001317026.2:c.531T>C, NM_001317026.1:c.531T>A, NM_001317026.1:c.531T>C, XM_011522875.3:c.531T>A, XM_011522875.3:c.531T>C, XM_011522875.2:c.531T>A, XM_011522875.2:c.531T>C, XM_017022953.2:c.531T>A, XM_017022953.2:c.531T>C, XM_017022953.1:c.531T>A, XM_017022953.1:c.531T>C, XM_011522874.2:c.531T>A, XM_011522874.2:c.531T>C, XM_011522874.1:c.531T>A, XM_011522874.1:c.531T>C, XM_047433644.1:c.531T>A, XM_047433644.1:c.531T>C, XM_047433645.1:c.531T>A, XM_047433645.1:c.531T>C

Select item 14878972695.

rs1487897269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67649118 (GRCh38)
16:67683021 (GRCh37)
Canonical SPDI:: NC_000016.10:67649117:G:A
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.67649118G>A, NC_000016.9:g.67683021G>A, NG_054728.1:g.9200G>A, NM_001013838.3:c.1634G>A, NM_001013838.2:c.1634G>A, NM_001013838.1:c.1634G>A, NM_001317026.3:c.1526G>A, NM_001317026.2:c.1526G>A, NM_001317026.1:c.1526G>A, XM_011522875.3:c.1541G>A, XM_011522875.2:c.1541G>A, XM_017022953.2:c.1541G>A, XM_017022953.1:c.1541G>A, XM_011522874.2:c.1541G>A, XM_011522874.1:c.1541G>A, XM_047433644.1:c.1526G>A, XM_047433645.1:c.1526G>A, NP_001013860.1:p.Arg545Lys, NP_001303955.1:p.Arg509Lys, XP_011521177.2:p.Arg514Lys, XP_016878442.1:p.Arg514Lys, XP_011521176.1:p.Arg514Lys, XP_047289600.1:p.Arg509Lys, XP_047289601.1:p.Arg509Lys

Select item 14875736536.

rs1487573653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67649500 (GRCh38)
16:67683403 (GRCh37)
Canonical SPDI:: NC_000016.10:67649499:C:T
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.67649500C>T, NC_000016.9:g.67683403C>T, NG_054728.1:g.9582C>T, NM_001013838.3:c.1800C>T, NM_001013838.2:c.1800C>T, NM_001013838.1:c.1800C>T, NM_001317026.3:c.1692C>T, NM_001317026.2:c.1692C>T, NM_001317026.1:c.1692C>T, XM_011522875.3:c.1707C>T, XM_011522875.2:c.1707C>T, XM_017022953.2:c.1707C>T, XM_017022953.1:c.1707C>T, XM_011522874.2:c.1707C>T, XM_011522874.1:c.1707C>T, XM_047433644.1:c.1692C>T, XM_047433645.1:c.1692C>T

Select item 14875485577.

rs1487548557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67650132 (GRCh38)
16:67684035 (GRCh37)
Canonical SPDI:: NC_000016.10:67650131:C:G
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67650132C>G, NC_000016.9:g.67684035C>G, NG_054728.1:g.10214C>G, NM_001013838.3:c.2166C>G, NM_001013838.2:c.2166C>G, NM_001013838.1:c.2166C>G, NM_001317026.3:c.2058C>G, NM_001317026.2:c.2058C>G, NM_001317026.1:c.2058C>G, XM_011522875.3:c.2073C>G, XM_011522875.2:c.2073C>G, XM_011522875.1:c.159C>G, XM_017022953.2:c.2073C>G, XM_017022953.1:c.2073C>G, XM_011522874.2:c.2073C>G, XM_011522874.1:c.2073C>G, XM_047433644.1:c.2058C>G, XM_047433645.1:c.2058C>G

Select item 14869464048.

rs1486946404 [Homo sapiens]

Variant type:: DEL
Alleles:: TCTT>- [Show Flanks]
Chromosome:: 16:67648302 (GRCh38)
16:67682205 (GRCh37)
Canonical SPDI:: NC_000016.10:67648301:TCTT:
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67648302_67648305del, NC_000016.9:g.67682205_67682208del, NG_054728.1:g.8384_8387del, NM_001013838.3:c.1322_1325del, NM_001013838.2:c.1322_1325del, NM_001013838.1:c.1322_1325del, NM_001317026.3:c.1214_1217del, NM_001317026.2:c.1214_1217del, NM_001317026.1:c.1214_1217del, XM_011522875.3:c.1229_1232del, XM_011522875.2:c.1229_1232del, XM_017022953.2:c.1229_1232del, XM_017022953.1:c.1229_1232del, XM_011522874.2:c.1229_1232del, XM_011522874.1:c.1229_1232del, XM_047433644.1:c.1214_1217del, XM_047433645.1:c.1214_1217del, NP_001013860.1:p.Val441fs, NP_001303955.1:p.Val405fs, XP_011521177.2:p.Val410fs, XP_016878442.1:p.Val410fs, XP_011521176.1:p.Val410fs, XP_047289600.1:p.Val405fs, XP_047289601.1:p.Val405fs

Select item 14855709239.

rs1485570923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67649918 (GRCh38)
16:67683821 (GRCh37)
Canonical SPDI:: NC_000016.10:67649917:G:A
Gene:: CARMIL2 (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)
HGVS:: NC_000016.10:g.67649918G>A, NC_000016.9:g.67683821G>A, NG_054728.1:g.10000G>A, NM_001013838.3:c.2032G>A, NM_001013838.2:c.2032G>A, NM_001013838.1:c.2032G>A, NM_001317026.3:c.1924G>A, NM_001317026.2:c.1924G>A, NM_001317026.1:c.1924G>A, XM_011522875.3:c.1939G>A, XM_011522875.2:c.1939G>A, XM_011522875.1:c.25G>A, XM_017022953.2:c.1939G>A, XM_017022953.1:c.1939G>A, XM_011522874.2:c.1939G>A, XM_011522874.1:c.1939G>A, XM_047433644.1:c.1924G>A, XM_047433645.1:c.1924G>A, NP_001013860.1:p.Ala678Thr, NP_001303955.1:p.Ala642Thr, XP_011521177.2:p.Ala647Thr, XP_016878442.1:p.Ala647Thr, XP_011521176.1:p.Ala647Thr, XP_047289600.1:p.Ala642Thr, XP_047289601.1:p.Ala642Thr

Select item 148456909910.

rs1484569099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67647910 (GRCh38)
16:67681813 (GRCh37)
Canonical SPDI:: NC_000016.10:67647909:G:A
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.67647910G>A, NC_000016.9:g.67681813G>A, NG_054728.1:g.7992G>A, NM_001013838.3:c.1023G>A, NM_001013838.2:c.1023G>A, NM_001013838.1:c.1023G>A, NM_001317026.3:c.1023G>A, NM_001317026.2:c.1023G>A, NM_001317026.1:c.1023G>A, XM_011522875.3:c.1038G>A, XM_011522875.2:c.1038G>A, XM_017022953.2:c.1038G>A, XM_017022953.1:c.1038G>A, XM_011522874.2:c.1038G>A, XM_011522874.1:c.1038G>A, XM_047433644.1:c.1023G>A, XM_047433645.1:c.1023G>A

Select item 148441763511.

rs1484417635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:67654577 (GRCh38)
16:67688480 (GRCh37)
Canonical SPDI:: NC_000016.10:67654576:G:C
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67654577G>C, NC_000016.9:g.67688480G>C, NG_054728.1:g.14659G>C, NM_001013838.3:c.3467G>C, NM_001013838.2:c.3467G>C, NM_001013838.1:c.3467G>C, NM_001317026.3:c.3359G>C, NM_001317026.2:c.3359G>C, NM_001317026.1:c.3359G>C, XM_011522875.3:c.3374G>C, XM_011522875.2:c.3374G>C, XM_011522875.1:c.1460G>C, XM_017022953.2:c.3374G>C, XM_017022953.1:c.3374G>C, XM_011522874.2:c.3374G>C, XM_011522874.1:c.3374G>C, XM_047433644.1:c.3359G>C, XM_047433645.1:c.3359G>C, NP_001013860.1:p.Ser1156Thr, NP_001303955.1:p.Ser1120Thr, XP_011521177.2:p.Ser1125Thr, XP_016878442.1:p.Ser1125Thr, XP_011521176.1:p.Ser1125Thr, XP_047289600.1:p.Ser1120Thr, XP_047289601.1:p.Ser1120Thr

Select item 148316082312.

rs1483160823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67656043 (GRCh38)
16:67689946 (GRCh37)
Canonical SPDI:: NC_000016.10:67656042:G:A
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67656043G>A, NC_000016.9:g.67689946G>A, NG_054728.1:g.16125G>A, NM_001013838.3:c.3718G>A, NM_001013838.2:c.3718G>A, NM_001013838.1:c.3718G>A, NM_001317026.3:c.3610G>A, NM_001317026.2:c.3610G>A, NM_001317026.1:c.3610G>A, NG_042874.1:g.9773C>T, XM_011522875.3:c.3625G>A, XM_011522875.2:c.3625G>A, XM_011522875.1:c.1711G>A, XM_017022953.2:c.3625G>A, XM_017022953.1:c.3625G>A, XM_011522874.2:c.3625G>A, XM_011522874.1:c.3625G>A, XM_047433644.1:c.3610G>A, XM_047433645.1:c.3610G>A, NP_001013860.1:p.Glu1240Lys, NP_001303955.1:p.Glu1204Lys, XP_011521177.2:p.Glu1209Lys, XP_016878442.1:p.Glu1209Lys, XP_011521176.1:p.Glu1209Lys, XP_047289600.1:p.Glu1204Lys, XP_047289601.1:p.Glu1204Lys

Select item 148290606513.

rs1482906065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:67653143 (GRCh38)
16:67687046 (GRCh37)
Canonical SPDI:: NC_000016.10:67653142:G:A,NC_000016.10:67653142:G:T
Gene:: CARMIL2 (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)
HGVS:: NC_000016.10:g.67653143G>A, NC_000016.10:g.67653143G>T, NC_000016.9:g.67687046G>A, NC_000016.9:g.67687046G>T, NG_054728.1:g.13225G>A, NG_054728.1:g.13225G>T, NM_001013838.3:c.3009G>A, NM_001013838.3:c.3009G>T, NM_001013838.2:c.3009G>A, NM_001013838.2:c.3009G>T, NM_001013838.1:c.3009G>A, NM_001013838.1:c.3009G>T, NM_001317026.3:c.2901G>A, NM_001317026.3:c.2901G>T, NM_001317026.2:c.2901G>A, NM_001317026.2:c.2901G>T, NM_001317026.1:c.2901G>A, NM_001317026.1:c.2901G>T, XM_011522875.3:c.2916G>A, XM_011522875.3:c.2916G>T, XM_011522875.2:c.2916G>A, XM_011522875.2:c.2916G>T, XM_011522875.1:c.1002G>A, XM_011522875.1:c.1002G>T, XM_017022953.2:c.2916G>A, XM_017022953.2:c.2916G>T, XM_017022953.1:c.2916G>A, XM_017022953.1:c.2916G>T, XM_011522874.2:c.2916G>A, XM_011522874.2:c.2916G>T, XM_011522874.1:c.2916G>A, XM_011522874.1:c.2916G>T, XM_047433644.1:c.2901G>A, XM_047433644.1:c.2901G>T, XM_047433645.1:c.2901G>A, XM_047433645.1:c.2901G>T

Select item 148290057614.

rs1482900576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67647184 (GRCh38)
16:67681087 (GRCh37)
Canonical SPDI:: NC_000016.10:67647183:T:C
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67647184T>C, NC_000016.9:g.67681087T>C, NG_054728.1:g.7266T>C, NM_001013838.3:c.680T>C, NM_001013838.2:c.680T>C, NM_001013838.1:c.680T>C, NM_001317026.3:c.680T>C, NM_001317026.2:c.680T>C, NM_001317026.1:c.680T>C, XM_011522875.3:c.680T>C, XM_011522875.2:c.680T>C, XM_017022953.2:c.680T>C, XM_017022953.1:c.680T>C, XM_011522874.2:c.680T>C, XM_011522874.1:c.680T>C, XM_047433644.1:c.680T>C, XM_047433645.1:c.680T>C, NP_001013860.1:p.Met227Thr, NP_001303955.1:p.Met227Thr, XP_011521177.2:p.Met227Thr, XP_016878442.1:p.Met227Thr, XP_011521176.1:p.Met227Thr, XP_047289600.1:p.Met227Thr, XP_047289601.1:p.Met227Thr

Select item 148288844715.

rs1482888447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:67646253 (GRCh38)
16:67680156 (GRCh37)
Canonical SPDI:: NC_000016.10:67646252:A:T
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67646253A>T, NC_000016.9:g.67680156A>T, NG_054728.1:g.6335A>T, NM_001013838.3:c.317A>T, NM_001013838.2:c.317A>T, NM_001013838.1:c.317A>T, NM_001317026.3:c.317A>T, NM_001317026.2:c.317A>T, NM_001317026.1:c.317A>T, XM_011522875.3:c.317A>T, XM_011522875.2:c.317A>T, XM_017022953.2:c.317A>T, XM_017022953.1:c.317A>T, XM_011522874.2:c.317A>T, XM_011522874.1:c.317A>T, XM_047433644.1:c.317A>T, XM_047433645.1:c.317A>T, NP_001013860.1:p.Gln106Leu, NP_001303955.1:p.Gln106Leu, XP_011521177.2:p.Gln106Leu, XP_016878442.1:p.Gln106Leu, XP_011521176.1:p.Gln106Leu, XP_047289600.1:p.Gln106Leu, XP_047289601.1:p.Gln106Leu

Select item 148250783116.

rs1482507831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67654502 (GRCh38)
16:67688405 (GRCh37)
Canonical SPDI:: NC_000016.10:67654501:C:T
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67654502C>T, NC_000016.9:g.67688405C>T, NG_054728.1:g.14584C>T, NM_001013838.3:c.3392C>T, NM_001013838.2:c.3392C>T, NM_001013838.1:c.3392C>T, NM_001317026.3:c.3284C>T, NM_001317026.2:c.3284C>T, NM_001317026.1:c.3284C>T, XM_011522875.3:c.3299C>T, XM_011522875.2:c.3299C>T, XM_011522875.1:c.1385C>T, XM_017022953.2:c.3299C>T, XM_017022953.1:c.3299C>T, XM_011522874.2:c.3299C>T, XM_011522874.1:c.3299C>T, XM_047433644.1:c.3284C>T, XM_047433645.1:c.3284C>T, NP_001013860.1:p.Thr1131Ile, NP_001303955.1:p.Thr1095Ile, XP_011521177.2:p.Thr1100Ile, XP_016878442.1:p.Thr1100Ile, XP_011521176.1:p.Thr1100Ile, XP_047289600.1:p.Thr1095Ile, XP_047289601.1:p.Thr1095Ile

Select item 148200015917.

rs1482000159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:67646505 (GRCh38)
16:67680408 (GRCh37)
Canonical SPDI:: NC_000016.10:67646504:T:A
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.67646505T>A, NC_000016.9:g.67680408T>A, NG_054728.1:g.6587T>A, NM_001013838.3:c.454T>A, NM_001013838.2:c.454T>A, NM_001013838.1:c.454T>A, NM_001317026.3:c.454T>A, NM_001317026.2:c.454T>A, NM_001317026.1:c.454T>A, XM_011522875.3:c.454T>A, XM_011522875.2:c.454T>A, XM_017022953.2:c.454T>A, XM_017022953.1:c.454T>A, XM_011522874.2:c.454T>A, XM_011522874.1:c.454T>A, XM_047433644.1:c.454T>A, XM_047433645.1:c.454T>A, NP_001013860.1:p.Cys152Ser, NP_001303955.1:p.Cys152Ser, XP_011521177.2:p.Cys152Ser, XP_016878442.1:p.Cys152Ser, XP_011521176.1:p.Cys152Ser, XP_047289600.1:p.Cys152Ser, XP_047289601.1:p.Cys152Ser

Select item 148173499518.

rs1481734995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:67647868 (GRCh38)
16:67681771 (GRCh37)
Canonical SPDI:: NC_000016.10:67647867:A:T
Gene:: CARMIL2 (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_000016.10:g.67647868A>T, NC_000016.9:g.67681771A>T, NG_054728.1:g.7950A>T, NM_001013838.3:c.981A>T, NM_001013838.2:c.981A>T, NM_001013838.1:c.981A>T, NM_001317026.3:c.981A>T, NM_001317026.2:c.981A>T, NM_001317026.1:c.981A>T, XM_011522875.3:c.996A>T, XM_011522875.2:c.996A>T, XM_017022953.2:c.996A>T, XM_017022953.1:c.996A>T, XM_011522874.2:c.996A>T, XM_011522874.1:c.996A>T, XM_047433644.1:c.981A>T, XM_047433645.1:c.981A>T

Select item 148000410619.

rs1480004106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67656294 (GRCh38)
16:67690197 (GRCh37)
Canonical SPDI:: NC_000016.10:67656293:C:G
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67656294C>G, NC_000016.9:g.67690197C>G, NG_054728.1:g.16376C>G, NM_001013838.3:c.3809C>G, NM_001013838.2:c.3809C>G, NM_001013838.1:c.3809C>G, NM_001317026.3:c.3701C>G, NM_001317026.2:c.3701C>G, NM_001317026.1:c.3701C>G, NG_042874.1:g.9522G>C, XM_011522875.3:c.3716C>G, XM_011522875.2:c.3716C>G, XM_011522875.1:c.1802C>G, XM_017022953.2:c.3716C>G, XM_017022953.1:c.3716C>G, XM_011522874.2:c.3716C>G, XM_011522874.1:c.3716C>G, XM_047433644.1:c.3701C>G, XM_047433645.1:c.3701C>G, NP_001013860.1:p.Ser1270Cys, NP_001303955.1:p.Ser1234Cys, XP_011521177.2:p.Ser1239Cys, XP_016878442.1:p.Ser1239Cys, XP_011521176.1:p.Ser1239Cys, XP_047289600.1:p.Ser1234Cys, XP_047289601.1:p.Ser1234Cys

Select item 147859532320.

rs1478595323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67647735 (GRCh38)
16:67681638 (GRCh37)
Canonical SPDI:: NC_000016.10:67647734:C:T
Gene:: CARMIL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000016.10:g.67647735C>T, NC_000016.9:g.67681638C>T, NG_054728.1:g.7817C>T, NM_001013838.3:c.927C>T, NM_001013838.2:c.927C>T, NM_001013838.1:c.927C>T, NM_001317026.3:c.927C>T, NM_001317026.2:c.927C>T, NM_001317026.1:c.927C>T, XM_011522875.3:c.942C>T, XM_011522875.2:c.942C>T, XM_017022953.2:c.942C>T, XM_017022953.1:c.942C>T, XM_011522874.2:c.942C>T, XM_011522874.1:c.942C>T, XM_047433644.1:c.927C>T, XM_047433645.1:c.927C>T

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Result Filters

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Items: 1 to 20 of 1482

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