SNP Links for Protein (Select 261878457) - SNP

Links from Protein

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Select item 14906470401.

rs1490647040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:110800420 (GRCh38)
9:113562700 (GRCh37)
Canonical SPDI:: NC_000009.12:110800419:G:A
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000106/2 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.110800420G>A, NC_000009.11:g.113562700G>A, NG_016016.2:g.136630G>A, NM_005592.4:c.2042G>A, NM_005592.3:c.2042G>A, NM_001166280.2:c.1784G>A, NM_001166280.1:c.1784G>A, NM_001166281.2:c.1754G>A, NM_001166281.1:c.1754G>A, NM_001369398.1:c.782G>A, XM_005251994.4:c.2072G>A, XM_005251994.3:c.2072G>A, XM_005251994.2:c.2072G>A, XM_005251994.1:c.2072G>A, XM_005251995.4:c.2048G>A, XM_005251995.3:c.2048G>A, XM_005251995.2:c.2048G>A, XM_005251995.1:c.2048G>A, XM_005251996.4:c.2018G>A, XM_005251996.3:c.2018G>A, XM_005251996.2:c.2018G>A, XM_005251996.1:c.2018G>A, XM_011518708.3:c.806G>A, XM_011518708.2:c.806G>A, XM_011518708.1:c.806G>A, XM_017014734.2:c.1808G>A, XM_017014734.1:c.1808G>A, NP_005583.1:p.Ser681Asn, NP_001159752.1:p.Ser595Asn, NP_001159753.1:p.Ser585Asn, NP_001356327.1:p.Ser261Asn, XP_005252051.1:p.Ser691Asn, XP_005252052.1:p.Ser683Asn, XP_005252053.1:p.Ser673Asn, XP_011517010.1:p.Ser269Asn, XP_016870223.1:p.Ser603Asn

Select item 14894530692.

rs1489453069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:110668928 (GRCh38)
9:113431208 (GRCh37)
Canonical SPDI:: NC_000009.12:110668927:A:G
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.110668928A>G, NC_000009.11:g.113431208A>G, NG_016016.2:g.5138A>G, NM_005592.4:c.24A>G, NM_005592.3:c.24A>G, NM_001166280.2:c.24A>G, NM_001166280.1:c.24A>G, NM_001166281.2:c.24A>G, NM_001166281.1:c.24A>G, XM_005251994.4:c.24A>G, XM_005251994.3:c.24A>G, XM_005251994.2:c.24A>G, XM_005251994.1:c.24A>G, XM_005251995.4:c.24A>G, XM_005251995.3:c.24A>G, XM_005251995.2:c.24A>G, XM_005251995.1:c.24A>G, XM_005251996.4:c.24A>G, XM_005251996.3:c.24A>G, XM_005251996.2:c.24A>G, XM_005251996.1:c.24A>G, XM_017014734.2:c.24A>G, XM_017014734.1:c.24A>G

Select item 14876802363.

rs1487680236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:110800824 (GRCh38)
9:113563104 (GRCh37)
Canonical SPDI:: NC_000009.12:110800823:C:T
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: likely-pathogenic
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.110800824C>T, NC_000009.11:g.113563104C>T, NG_016016.2:g.137034C>T, NM_005592.4:c.2446C>T, NM_005592.3:c.2446C>T, NM_001166280.2:c.2188C>T, NM_001166280.1:c.2188C>T, NM_001166281.2:c.2158C>T, NM_001166281.1:c.2158C>T, NM_001369398.1:c.1186C>T, XM_005251994.4:c.2476C>T, XM_005251994.3:c.2476C>T, XM_005251994.2:c.2476C>T, XM_005251994.1:c.2476C>T, XM_005251995.4:c.2452C>T, XM_005251995.3:c.2452C>T, XM_005251995.2:c.2452C>T, XM_005251995.1:c.2452C>T, XM_005251996.4:c.2422C>T, XM_005251996.3:c.2422C>T, XM_005251996.2:c.2422C>T, XM_005251996.1:c.2422C>T, XM_011518708.3:c.1210C>T, XM_011518708.2:c.1210C>T, XM_011518708.1:c.1210C>T, XM_017014734.2:c.2212C>T, XM_017014734.1:c.2212C>T, NP_005583.1:p.Arg816Ter, NP_001159752.1:p.Arg730Ter, NP_001159753.1:p.Arg720Ter, NP_001356327.1:p.Arg396Ter, XP_005252051.1:p.Arg826Ter, XP_005252052.1:p.Arg818Ter, XP_005252053.1:p.Arg808Ter, XP_011517010.1:p.Arg404Ter, XP_016870223.1:p.Arg738Ter

Select item 14850241004.

rs1485024100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:110682697 (GRCh38)
9:113444977 (GRCh37)
Canonical SPDI:: NC_000009.12:110682696:G:A
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.110682697G>A, NC_000009.11:g.113444977G>A, NG_016016.2:g.18907G>A, NM_005592.4:c.103G>A, NM_005592.3:c.103G>A, NM_001166280.2:c.103G>A, NM_001166280.1:c.103G>A, NM_001166281.2:c.103G>A, NM_001166281.1:c.103G>A, XM_005251994.4:c.103G>A, XM_005251994.3:c.103G>A, XM_005251994.2:c.103G>A, XM_005251994.1:c.103G>A, XM_005251995.4:c.103G>A, XM_005251995.3:c.103G>A, XM_005251995.2:c.103G>A, XM_005251995.1:c.103G>A, XM_005251996.4:c.103G>A, XM_005251996.3:c.103G>A, XM_005251996.2:c.103G>A, XM_005251996.1:c.103G>A, XM_017014734.2:c.103G>A, XM_017014734.1:c.103G>A, NP_005583.1:p.Glu35Lys, NP_001159752.1:p.Glu35Lys, NP_001159753.1:p.Glu35Lys, XP_005252051.1:p.Glu35Lys, XP_005252052.1:p.Glu35Lys, XP_005252053.1:p.Glu35Lys, XP_016870223.1:p.Glu35Lys

Select item 14849743905.

rs1484974390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:110775818 (GRCh38)
9:113538098 (GRCh37)
Canonical SPDI:: NC_000009.12:110775817:C:A,NC_000009.12:110775817:C:T
Gene:: MUSK (Varview), LOC107987115 (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.110775818C>A, NC_000009.12:g.110775818C>T, NC_000009.11:g.113538098C>A, NC_000009.11:g.113538098C>T, NG_016016.2:g.112028C>A, NG_016016.2:g.112028C>T, NM_005592.4:c.1215C>A, NM_005592.4:c.1215C>T, NM_005592.3:c.1215C>A, NM_005592.3:c.1215C>T, NM_001166280.2:c.981C>A, NM_001166280.2:c.981C>T, NM_001166280.1:c.981C>A, NM_001166280.1:c.981C>T, NM_001166281.2:c.951C>A, NM_001166281.2:c.951C>T, NM_001166281.1:c.951C>A, NM_001166281.1:c.951C>T, NM_001369398.1:c.-22C>A, NM_001369398.1:c.-22C>T, XM_005251994.4:c.1245C>A, XM_005251994.4:c.1245C>T, XM_005251994.3:c.1245C>A, XM_005251994.3:c.1245C>T, XM_005251994.2:c.1245C>A, XM_005251994.2:c.1245C>T, XM_005251994.1:c.1245C>A, XM_005251994.1:c.1245C>T, XM_005251995.4:c.1245C>A, XM_005251995.4:c.1245C>T, XM_005251995.3:c.1245C>A, XM_005251995.3:c.1245C>T, XM_005251995.2:c.1245C>A, XM_005251995.2:c.1245C>T, XM_005251995.1:c.1245C>A, XM_005251995.1:c.1245C>T, XM_005251996.4:c.1215C>A, XM_005251996.4:c.1215C>T, XM_005251996.3:c.1215C>A, XM_005251996.3:c.1215C>T, XM_005251996.2:c.1215C>A, XM_005251996.2:c.1215C>T, XM_005251996.1:c.1215C>A, XM_005251996.1:c.1215C>T, XM_011518708.3:c.-22C>A, XM_011518708.3:c.-22C>T, XM_011518708.2:c.-22C>A, XM_011518708.2:c.-22C>T, XM_011518708.1:c.-22C>A, XM_011518708.1:c.-22C>T, XM_017014734.2:c.981C>A, XM_017014734.2:c.981C>T, XM_017014734.1:c.981C>A, XM_017014734.1:c.981C>T, NP_005583.1:p.Phe405Leu, NP_001159752.1:p.Phe327Leu, NP_001159753.1:p.Phe317Leu, XP_005252051.1:p.Phe415Leu, XP_005252052.1:p.Phe415Leu, XP_005252053.1:p.Phe405Leu, XP_016870223.1:p.Phe327Leu

Select item 14849187976.

rs1484918797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:110747738 (GRCh38)
9:113510018 (GRCh37)
Canonical SPDI:: NC_000009.12:110747737:C:T
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.110747738C>T, NC_000009.11:g.113510018C>T, NG_016016.2:g.83948C>T, NM_005592.4:c.851C>T, NM_005592.3:c.851C>T, NM_001166280.2:c.881C>T, NM_001166280.1:c.881C>T, NM_001166281.2:c.851C>T, NM_001166281.1:c.851C>T, NM_001369398.1:c.-386C>T, XM_005251994.4:c.881C>T, XM_005251994.3:c.881C>T, XM_005251994.2:c.881C>T, XM_005251994.1:c.881C>T, XM_005251995.4:c.881C>T, XM_005251995.3:c.881C>T, XM_005251995.2:c.881C>T, XM_005251995.1:c.881C>T, XM_005251996.4:c.851C>T, XM_005251996.3:c.851C>T, XM_005251996.2:c.851C>T, XM_005251996.1:c.851C>T, XM_011518708.3:c.-115C>T, XM_011518708.2:c.-115C>T, XM_011518708.1:c.-115C>T, XM_017014734.2:c.881C>T, XM_017014734.1:c.881C>T, NP_005583.1:p.Ala284Val, NP_001159752.1:p.Ala294Val, NP_001159753.1:p.Ala284Val, XP_005252051.1:p.Ala294Val, XP_005252052.1:p.Ala294Val, XP_005252053.1:p.Ala284Val, XP_016870223.1:p.Ala294Val

Select item 14839160137.

rs1483916013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:110784914 (GRCh38)
9:113547194 (GRCh37)
Canonical SPDI:: NC_000009.12:110784913:C:T
Gene:: MUSK (Varview), LOC107987115 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.110784914C>T, NC_000009.11:g.113547194C>T, NG_016016.2:g.121124C>T, NM_005592.4:c.1484C>T, NM_005592.3:c.1484C>T, NM_001166280.2:c.1226C>T, NM_001166280.1:c.1226C>T, NM_001166281.2:c.1196C>T, NM_001166281.1:c.1196C>T, NM_001369398.1:c.224C>T, XM_005251994.4:c.1514C>T, XM_005251994.3:c.1514C>T, XM_005251994.2:c.1514C>T, XM_005251994.1:c.1514C>T, XM_005251995.4:c.1490C>T, XM_005251995.3:c.1490C>T, XM_005251995.2:c.1490C>T, XM_005251995.1:c.1490C>T, XM_005251996.4:c.1460C>T, XM_005251996.3:c.1460C>T, XM_005251996.2:c.1460C>T, XM_005251996.1:c.1460C>T, XM_011518708.3:c.248C>T, XM_011518708.2:c.248C>T, XM_011518708.1:c.248C>T, XM_017014734.2:c.1250C>T, XM_017014734.1:c.1250C>T, XR_001746892.2:n.156G>A, XR_001746892.1:n.187G>A, NP_005583.1:p.Thr495Ile, NP_001159752.1:p.Thr409Ile, NP_001159753.1:p.Thr399Ile, NP_001356327.1:p.Thr75Ile, XP_005252051.1:p.Thr505Ile, XP_005252052.1:p.Thr497Ile, XP_005252053.1:p.Thr487Ile, XP_011517010.1:p.Thr83Ile, XP_016870223.1:p.Thr417Ile

Select item 14835126008.

rs1483512600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:110784817 (GRCh38)
9:113547097 (GRCh37)
Canonical SPDI:: NC_000009.12:110784816:T:C
Gene:: MUSK (Varview), LOC107987115 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.110784817T>C, NC_000009.11:g.113547097T>C, NG_016016.2:g.121027T>C, NM_005592.4:c.1387T>C, NM_005592.3:c.1387T>C, NM_001166280.2:c.1129T>C, NM_001166280.1:c.1129T>C, NM_001166281.2:c.1099T>C, NM_001166281.1:c.1099T>C, NM_001369398.1:c.127T>C, XM_005251994.4:c.1417T>C, XM_005251994.3:c.1417T>C, XM_005251994.2:c.1417T>C, XM_005251994.1:c.1417T>C, XM_005251995.4:c.1393T>C, XM_005251995.3:c.1393T>C, XM_005251995.2:c.1393T>C, XM_005251995.1:c.1393T>C, XM_005251996.4:c.1363T>C, XM_005251996.3:c.1363T>C, XM_005251996.2:c.1363T>C, XM_005251996.1:c.1363T>C, XM_011518708.3:c.151T>C, XM_011518708.2:c.151T>C, XM_011518708.1:c.151T>C, XM_017014734.2:c.1153T>C, XM_017014734.1:c.1153T>C, XR_001746892.2:n.253A>G, XR_001746892.1:n.284A>G, NP_005583.1:p.Phe463Leu, NP_001159752.1:p.Phe377Leu, NP_001159753.1:p.Phe367Leu, NP_001356327.1:p.Phe43Leu, XP_005252051.1:p.Phe473Leu, XP_005252052.1:p.Phe465Leu, XP_005252053.1:p.Phe455Leu, XP_011517010.1:p.Phe51Leu, XP_016870223.1:p.Phe385Leu

Select item 14796144969.

rs1479614496 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 9:110734295 (GRCh38)
9:113496575 (GRCh37)
Canonical SPDI:: NC_000009.12:110734294:TTT:TT
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.110734297del, NC_000009.11:g.113496577del, NG_016016.2:g.70507del, NM_005592.4:c.675del, NM_005592.3:c.675del, NM_001166280.2:c.705del, NM_001166280.1:c.705del, NM_001166281.2:c.675del, NM_001166281.1:c.675del, NM_001369398.1:c.-562del, XM_005251994.4:c.705del, XM_005251994.3:c.705del, XM_005251994.2:c.705del, XM_005251994.1:c.705del, XM_005251995.4:c.705del, XM_005251995.3:c.705del, XM_005251995.2:c.705del, XM_005251995.1:c.705del, XM_005251996.4:c.675del, XM_005251996.3:c.675del, XM_005251996.2:c.675del, XM_005251996.1:c.675del, XM_017014734.2:c.705del, XM_017014734.1:c.705del, NP_005583.1:p.Phe225fs, NP_001159752.1:p.Phe235fs, NP_001159753.1:p.Phe225fs, XP_005252051.1:p.Phe235fs, XP_005252052.1:p.Phe235fs, XP_005252053.1:p.Phe225fs, XP_016870223.1:p.Phe235fs

Select item 147901903010.

rs1479019030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 9:110687174 (GRCh38)
9:113449454 (GRCh37)
Canonical SPDI:: NC_000009.12:110687173:T:A,NC_000009.12:110687173:T:G
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.110687174T>A, NC_000009.12:g.110687174T>G, NC_000009.11:g.113449454T>A, NC_000009.11:g.113449454T>G, NG_016016.2:g.23384T>A, NG_016016.2:g.23384T>G, NM_005592.4:c.264T>A, NM_005592.4:c.264T>G, NM_005592.3:c.264T>A, NM_005592.3:c.264T>G, NM_001166280.2:c.264T>A, NM_001166280.2:c.264T>G, NM_001166280.1:c.264T>A, NM_001166280.1:c.264T>G, NM_001166281.2:c.264T>A, NM_001166281.2:c.264T>G, NM_001166281.1:c.264T>A, NM_001166281.1:c.264T>G, XM_005251994.4:c.264T>A, XM_005251994.4:c.264T>G, XM_005251994.3:c.264T>A, XM_005251994.3:c.264T>G, XM_005251994.2:c.264T>A, XM_005251994.2:c.264T>G, XM_005251994.1:c.264T>A, XM_005251994.1:c.264T>G, XM_005251995.4:c.264T>A, XM_005251995.4:c.264T>G, XM_005251995.3:c.264T>A, XM_005251995.3:c.264T>G, XM_005251995.2:c.264T>A, XM_005251995.2:c.264T>G, XM_005251995.1:c.264T>A, XM_005251995.1:c.264T>G, XM_005251996.4:c.264T>A, XM_005251996.4:c.264T>G, XM_005251996.3:c.264T>A, XM_005251996.3:c.264T>G, XM_005251996.2:c.264T>A, XM_005251996.2:c.264T>G, XM_005251996.1:c.264T>A, XM_005251996.1:c.264T>G, XM_017014734.2:c.264T>A, XM_017014734.2:c.264T>G, XM_017014734.1:c.264T>A, XM_017014734.1:c.264T>G, NP_005583.1:p.Ser88Arg, NP_005583.1:p.Ser88Arg, NP_001159752.1:p.Ser88Arg, NP_001159752.1:p.Ser88Arg, NP_001159753.1:p.Ser88Arg, NP_001159753.1:p.Ser88Arg, XP_005252051.1:p.Ser88Arg, XP_005252051.1:p.Ser88Arg, XP_005252052.1:p.Ser88Arg, XP_005252052.1:p.Ser88Arg, XP_005252053.1:p.Ser88Arg, XP_005252053.1:p.Ser88Arg, XP_016870223.1:p.Ser88Arg, XP_016870223.1:p.Ser88Arg

Select item 147785024411.

rs1477850244 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAG [Show Flanks]
Chromosome:: 9:110747755 (GRCh38)
9:113510036 (GRCh37)
Canonical SPDI:: NC_000009.12:110747755:AGAAG:AGAAGAAG
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: AGA=0.0005/1 (Korea1K)
HGVS:: NC_000009.12:g.110747758_110747760dup, NC_000009.11:g.113510038_113510040dup, NG_016016.2:g.83968_83970dup, NM_005592.4:c.871_873dup, NM_005592.3:c.871_873dup, NM_001166280.2:c.901_903dup, NM_001166280.1:c.901_903dup, NM_001166281.2:c.871_873dup, NM_001166281.1:c.871_873dup, NM_001369398.1:c.-366_-364dup, XM_005251994.4:c.901_903dup, XM_005251994.3:c.901_903dup, XM_005251994.2:c.901_903dup, XM_005251994.1:c.901_903dup, XM_005251995.4:c.901_903dup, XM_005251995.3:c.901_903dup, XM_005251995.2:c.901_903dup, XM_005251995.1:c.901_903dup, XM_005251996.4:c.871_873dup, XM_005251996.3:c.871_873dup, XM_005251996.2:c.871_873dup, XM_005251996.1:c.871_873dup, XM_011518708.3:c.-95_-93dup, XM_011518708.2:c.-95_-93dup, XM_011518708.1:c.-95_-93dup, XM_017014734.2:c.901_903dup, XM_017014734.1:c.901_903dup, NP_005583.1:p.Lys291dup, NP_001159752.1:p.Lys301dup, NP_001159753.1:p.Lys291dup, XP_005252051.1:p.Lys301dup, XP_005252052.1:p.Lys301dup, XP_005252053.1:p.Lys291dup, XP_016870223.1:p.Lys301dup

Select item 147693831412.

rs1476938314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:110775931 (GRCh38)
9:113538211 (GRCh37)
Canonical SPDI:: NC_000009.12:110775930:A:C,NC_000009.12:110775930:A:G
Gene:: MUSK (Varview), LOC107987115 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.003821/7 (Korea1K)
HGVS:: NC_000009.12:g.110775931A>C, NC_000009.12:g.110775931A>G, NC_000009.11:g.113538211A>C, NC_000009.11:g.113538211A>G, NG_016016.2:g.112141A>C, NG_016016.2:g.112141A>G, NM_005592.4:c.1328A>C, NM_005592.4:c.1328A>G, NM_005592.3:c.1328A>C, NM_005592.3:c.1328A>G, NM_001166280.2:c.1094A>C, NM_001166280.2:c.1094A>G, NM_001166280.1:c.1094A>C, NM_001166280.1:c.1094A>G, NM_001166281.2:c.1064A>C, NM_001166281.2:c.1064A>G, NM_001166281.1:c.1064A>C, NM_001166281.1:c.1064A>G, NM_001369398.1:c.92A>C, NM_001369398.1:c.92A>G, XM_005251994.4:c.1358A>C, XM_005251994.4:c.1358A>G, XM_005251994.3:c.1358A>C, XM_005251994.3:c.1358A>G, XM_005251994.2:c.1358A>C, XM_005251994.2:c.1358A>G, XM_005251994.1:c.1358A>C, XM_005251994.1:c.1358A>G, XM_005251995.4:c.1358A>C, XM_005251995.4:c.1358A>G, XM_005251995.3:c.1358A>C, XM_005251995.3:c.1358A>G, XM_005251995.2:c.1358A>C, XM_005251995.2:c.1358A>G, XM_005251995.1:c.1358A>C, XM_005251995.1:c.1358A>G, XM_005251996.4:c.1328A>C, XM_005251996.4:c.1328A>G, XM_005251996.3:c.1328A>C, XM_005251996.3:c.1328A>G, XM_005251996.2:c.1328A>C, XM_005251996.2:c.1328A>G, XM_005251996.1:c.1328A>C, XM_005251996.1:c.1328A>G, XM_011518708.3:c.92A>C, XM_011518708.3:c.92A>G, XM_011518708.2:c.92A>C, XM_011518708.2:c.92A>G, XM_011518708.1:c.92A>C, XM_011518708.1:c.92A>G, XM_017014734.2:c.1094A>C, XM_017014734.2:c.1094A>G, XM_017014734.1:c.1094A>C, XM_017014734.1:c.1094A>G, NP_005583.1:p.Asp443Ala, NP_005583.1:p.Asp443Gly, NP_001159752.1:p.Asp365Ala, NP_001159752.1:p.Asp365Gly, NP_001159753.1:p.Asp355Ala, NP_001159753.1:p.Asp355Gly, NP_001356327.1:p.Asp31Ala, NP_001356327.1:p.Asp31Gly, XP_005252051.1:p.Asp453Ala, XP_005252051.1:p.Asp453Gly, XP_005252052.1:p.Asp453Ala, XP_005252052.1:p.Asp453Gly, XP_005252053.1:p.Asp443Ala, XP_005252053.1:p.Asp443Gly, XP_011517010.1:p.Asp31Ala, XP_011517010.1:p.Asp31Gly, XP_016870223.1:p.Asp365Ala, XP_016870223.1:p.Asp365Gly

Select item 147618518413.

rs1476185184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:110697388 (GRCh38)
9:113459668 (GRCh37)
Canonical SPDI:: NC_000009.12:110697387:G:C
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.110697388G>C, NC_000009.11:g.113459668G>C, NG_016016.2:g.33598G>C, NM_005592.4:c.550G>C, NM_005592.3:c.550G>C, NM_001166280.2:c.550G>C, NM_001166280.1:c.550G>C, NM_001166281.2:c.550G>C, NM_001166281.1:c.550G>C, XM_005251994.4:c.550G>C, XM_005251994.3:c.550G>C, XM_005251994.2:c.550G>C, XM_005251994.1:c.550G>C, XM_005251995.4:c.550G>C, XM_005251995.3:c.550G>C, XM_005251995.2:c.550G>C, XM_005251995.1:c.550G>C, XM_005251996.4:c.550G>C, XM_005251996.3:c.550G>C, XM_005251996.2:c.550G>C, XM_005251996.1:c.550G>C, XM_017014734.2:c.550G>C, XM_017014734.1:c.550G>C, NP_005583.1:p.Asp184His, NP_001159752.1:p.Asp184His, NP_001159753.1:p.Asp184His, XP_005252051.1:p.Asp184His, XP_005252052.1:p.Asp184His, XP_005252053.1:p.Asp184His, XP_016870223.1:p.Asp184His

Select item 147603497114.

rs1476034971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:110695485 (GRCh38)
9:113457765 (GRCh37)
Canonical SPDI:: NC_000009.12:110695484:T:A
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.110695485T>A, NC_000009.11:g.113457765T>A, NG_016016.2:g.31695T>A, NM_005592.4:c.441T>A, NM_005592.3:c.441T>A, NM_001166280.2:c.441T>A, NM_001166280.1:c.441T>A, NM_001166281.2:c.441T>A, NM_001166281.1:c.441T>A, XM_005251994.4:c.441T>A, XM_005251994.3:c.441T>A, XM_005251994.2:c.441T>A, XM_005251994.1:c.441T>A, XM_005251995.4:c.441T>A, XM_005251995.3:c.441T>A, XM_005251995.2:c.441T>A, XM_005251995.1:c.441T>A, XM_005251996.4:c.441T>A, XM_005251996.3:c.441T>A, XM_005251996.2:c.441T>A, XM_005251996.1:c.441T>A, XM_017014734.2:c.441T>A, XM_017014734.1:c.441T>A, NP_005583.1:p.Asn147Lys, NP_001159752.1:p.Asn147Lys, NP_001159753.1:p.Asn147Lys, XP_005252051.1:p.Asn147Lys, XP_005252052.1:p.Asn147Lys, XP_005252053.1:p.Asn147Lys, XP_016870223.1:p.Asn147Lys

Select item 147393758215.

rs1473937582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:110800576 (GRCh38)
9:113562856 (GRCh37)
Canonical SPDI:: NC_000009.12:110800575:T:C
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.110800576T>C, NC_000009.11:g.113562856T>C, NG_016016.2:g.136786T>C, NM_005592.4:c.2198T>C, NM_005592.3:c.2198T>C, NM_001166280.2:c.1940T>C, NM_001166280.1:c.1940T>C, NM_001166281.2:c.1910T>C, NM_001166281.1:c.1910T>C, NM_001369398.1:c.938T>C, XM_005251994.4:c.2228T>C, XM_005251994.3:c.2228T>C, XM_005251994.2:c.2228T>C, XM_005251994.1:c.2228T>C, XM_005251995.4:c.2204T>C, XM_005251995.3:c.2204T>C, XM_005251995.2:c.2204T>C, XM_005251995.1:c.2204T>C, XM_005251996.4:c.2174T>C, XM_005251996.3:c.2174T>C, XM_005251996.2:c.2174T>C, XM_005251996.1:c.2174T>C, XM_011518708.3:c.962T>C, XM_011518708.2:c.962T>C, XM_011518708.1:c.962T>C, XM_017014734.2:c.1964T>C, XM_017014734.1:c.1964T>C, NP_005583.1:p.Val733Ala, NP_001159752.1:p.Val647Ala, NP_001159753.1:p.Val637Ala, NP_001356327.1:p.Val313Ala, XP_005252051.1:p.Val743Ala, XP_005252052.1:p.Val735Ala, XP_005252053.1:p.Val725Ala, XP_011517010.1:p.Val321Ala, XP_016870223.1:p.Val655Ala

Select item 147367675216.

rs1473676752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:110695415 (GRCh38)
9:113457695 (GRCh37)
Canonical SPDI:: NC_000009.12:110695414:C:T
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000009.12:g.110695415C>T, NC_000009.11:g.113457695C>T, NG_016016.2:g.31625C>T, NM_005592.4:c.371C>T, NM_005592.3:c.371C>T, NM_001166280.2:c.371C>T, NM_001166280.1:c.371C>T, NM_001166281.2:c.371C>T, NM_001166281.1:c.371C>T, XM_005251994.4:c.371C>T, XM_005251994.3:c.371C>T, XM_005251994.2:c.371C>T, XM_005251994.1:c.371C>T, XM_005251995.4:c.371C>T, XM_005251995.3:c.371C>T, XM_005251995.2:c.371C>T, XM_005251995.1:c.371C>T, XM_005251996.4:c.371C>T, XM_005251996.3:c.371C>T, XM_005251996.2:c.371C>T, XM_005251996.1:c.371C>T, XM_017014734.2:c.371C>T, XM_017014734.1:c.371C>T, NP_005583.1:p.Thr124Ile, NP_001159752.1:p.Thr124Ile, NP_001159753.1:p.Thr124Ile, XP_005252051.1:p.Thr124Ile, XP_005252052.1:p.Thr124Ile, XP_005252053.1:p.Thr124Ile, XP_016870223.1:p.Thr124Ile

Select item 147360699017.

rs1473606990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:110787794 (GRCh38)
9:113550074 (GRCh37)
Canonical SPDI:: NC_000009.12:110787793:C:T
Gene:: MUSK (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)
HGVS:: NC_000009.12:g.110787794C>T, NC_000009.11:g.113550074C>T, NG_016016.2:g.124004C>T, NM_005592.4:c.1883C>T, NM_005592.3:c.1883C>T, NM_001166280.2:c.1625C>T, NM_001166280.1:c.1625C>T, NM_001166281.2:c.1595C>T, NM_001166281.1:c.1595C>T, NM_001369398.1:c.623C>T, XM_005251994.4:c.1913C>T, XM_005251994.3:c.1913C>T, XM_005251994.2:c.1913C>T, XM_005251994.1:c.1913C>T, XM_005251995.4:c.1889C>T, XM_005251995.3:c.1889C>T, XM_005251995.2:c.1889C>T, XM_005251995.1:c.1889C>T, XM_005251996.4:c.1859C>T, XM_005251996.3:c.1859C>T, XM_005251996.2:c.1859C>T, XM_005251996.1:c.1859C>T, XM_011518708.3:c.647C>T, XM_011518708.2:c.647C>T, XM_011518708.1:c.647C>T, XM_017014734.2:c.1649C>T, XM_017014734.1:c.1649C>T, NP_005583.1:p.Ala628Val, NP_001159752.1:p.Ala542Val, NP_001159753.1:p.Ala532Val, NP_001356327.1:p.Ala208Val, XP_005252051.1:p.Ala638Val, XP_005252052.1:p.Ala630Val, XP_005252053.1:p.Ala620Val, XP_011517010.1:p.Ala216Val, XP_016870223.1:p.Ala550Val

Select item 147156618518.

rs1471566185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:110695492 (GRCh38)
9:113457772 (GRCh37)
Canonical SPDI:: NC_000009.12:110695491:C:T
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.110695492C>T, NC_000009.11:g.113457772C>T, NG_016016.2:g.31702C>T, NM_005592.4:c.448C>T, NM_005592.3:c.448C>T, NM_001166280.2:c.448C>T, NM_001166280.1:c.448C>T, NM_001166281.2:c.448C>T, NM_001166281.1:c.448C>T, XM_005251994.4:c.448C>T, XM_005251994.3:c.448C>T, XM_005251994.2:c.448C>T, XM_005251994.1:c.448C>T, XM_005251995.4:c.448C>T, XM_005251995.3:c.448C>T, XM_005251995.2:c.448C>T, XM_005251995.1:c.448C>T, XM_005251996.4:c.448C>T, XM_005251996.3:c.448C>T, XM_005251996.2:c.448C>T, XM_005251996.1:c.448C>T, XM_017014734.2:c.448C>T, XM_017014734.1:c.448C>T, NP_005583.1:p.Pro150Ser, NP_001159752.1:p.Pro150Ser, NP_001159753.1:p.Pro150Ser, XP_005252051.1:p.Pro150Ser, XP_005252052.1:p.Pro150Ser, XP_005252053.1:p.Pro150Ser, XP_016870223.1:p.Pro150Ser

Select item 147146318519.

rs1471463185 has merged into rs863223335 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:110668943 (GRCh38)
9:113431224 (GRCh37)
Canonical SPDI:: NC_000009.12:110668943:A:AA
Gene:: MUSK (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
Clinical significance:: pathogenic
Validated:: by frequency,by cluster
MAF:: A=0./0 (ALSPAC)
A=0.000036/9 (GnomAD_exomes)
A=0.000075/9 (ExAC)
A=0.00027/1 (TWINSUK)
HGVS:: NC_000009.12:g.110668944dup, NC_000009.11:g.113431224dup, NG_016016.2:g.5154dup, NM_005592.4:c.40dup, NM_005592.3:c.40dup, NM_001166280.2:c.40dup, NM_001166280.1:c.40dup, NM_001166281.2:c.40dup, NM_001166281.1:c.40dup, XM_005251994.4:c.40dup, XM_005251994.3:c.40dup, XM_005251994.2:c.40dup, XM_005251994.1:c.40dup, XM_005251995.4:c.40dup, XM_005251995.3:c.40dup, XM_005251995.2:c.40dup, XM_005251995.1:c.40dup, XM_005251996.4:c.40dup, XM_005251996.3:c.40dup, XM_005251996.2:c.40dup, XM_005251996.1:c.40dup, XM_017014734.2:c.40dup, XM_017014734.1:c.40dup, NP_005583.1:p.Thr14fs, NP_001159752.1:p.Thr14fs, NP_001159753.1:p.Thr14fs, XP_005252051.1:p.Thr14fs, XP_005252052.1:p.Thr14fs, XP_005252053.1:p.Thr14fs, XP_016870223.1:p.Thr14fs

Select item 146971128820.

rs1469711288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:110775823 (GRCh38)
9:113538103 (GRCh37)
Canonical SPDI:: NC_000009.12:110775822:C:T
Gene:: MUSK (Varview), LOC107987115 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.110775823C>T, NC_000009.11:g.113538103C>T, NG_016016.2:g.112033C>T, NM_005592.4:c.1220C>T, NM_005592.3:c.1220C>T, NM_001166280.2:c.986C>T, NM_001166280.1:c.986C>T, NM_001166281.2:c.956C>T, NM_001166281.1:c.956C>T, NM_001369398.1:c.-17C>T, XM_005251994.4:c.1250C>T, XM_005251994.3:c.1250C>T, XM_005251994.2:c.1250C>T, XM_005251994.1:c.1250C>T, XM_005251995.4:c.1250C>T, XM_005251995.3:c.1250C>T, XM_005251995.2:c.1250C>T, XM_005251995.1:c.1250C>T, XM_005251996.4:c.1220C>T, XM_005251996.3:c.1220C>T, XM_005251996.2:c.1220C>T, XM_005251996.1:c.1220C>T, XM_011518708.3:c.-17C>T, XM_011518708.2:c.-17C>T, XM_011518708.1:c.-17C>T, XM_017014734.2:c.986C>T, XM_017014734.1:c.986C>T, NP_005583.1:p.Ala407Val, NP_001159752.1:p.Ala329Val, NP_001159753.1:p.Ala319Val, XP_005252051.1:p.Ala417Val, XP_005252052.1:p.Ala417Val, XP_005252053.1:p.Ala407Val, XP_016870223.1:p.Ala329Val

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