Links from Gene
Items: 1 to 20 of 1721
1.
rs1489994129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:62665973
(GRCh38)
11:62433445
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62665972:G:A,NC_000011.10:62665972:G:C
- Gene:
- LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489634149 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:62667798
(GRCh38)
11:62435270
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62667797:T:A
- Gene:
- LBHD1 (Varview), CSKMT (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000005/1
(GnomAD_exomes)
- HGVS:
3.
rs1489307226 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACCAGCT>-
[Show Flanks]
- Chromosome:
- 11:62666861
(GRCh38)
11:62434333
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62666859:TACCAGCT:T
- Gene:
- LBHD1 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.62666861_62666867del, NC_000011.9:g.62434333_62434339del, NG_041802.1:g.208_214del, XM_005274232.6:c.902_908del, XM_005274232.5:c.902_908del, XM_005274232.4:c.902_908del, XM_005274232.3:c.902_908del, XM_005274232.2:c.902_908del, XM_005274232.1:c.902_908del, NM_001043229.2:c.533_539del, NM_001043229.1:c.533_539del, XP_005274289.1:p.Tyr301fs, NP_001036694.1:p.Tyr178fs
4.
rs1489276497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:62667506
(GRCh38)
11:62434978
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62667505:G:A
- Gene:
- LBHD1 (Varview), CSKMT (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000012/3
(GnomAD_exomes)
- HGVS:
5.
rs1488757399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:62664330
(GRCh38)
11:62431802
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62664329:T:C
- Gene:
- LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
C=0.000342/1
(KOREAN)
C=0.000962/16
(TOMMO)
C=0.001096/2
(Korea1K)
- HGVS:
6.
rs1488654611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:62667018
(GRCh38)
11:62434490
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62667017:C:T
- Gene:
- LBHD1 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000011.10:g.62667018C>T, NC_000011.9:g.62434490C>T, NG_041802.1:g.365C>T, XM_005274232.6:c.1059C>T, XM_005274232.5:c.1059C>T, XM_005274232.4:c.1059C>T, XM_005274232.3:c.1059C>T, XM_005274232.2:c.1059C>T, XM_005274232.1:c.1059C>T, NM_001043229.2:c.690C>T, NM_001043229.1:c.690C>T
8.
rs1487760565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:62664054
(GRCh38)
11:62431526
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62664053:C:T
- Gene:
- LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000028/3
(GnomAD)
- HGVS:
9.
rs1487622413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:62667538
(GRCh38)
11:62435010
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62667537:G:A,NC_000011.10:62667537:G:C
- Gene:
- LBHD1 (Varview), CSKMT (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.62667538G>A, NC_000011.10:g.62667538G>C, NC_000011.9:g.62435010G>A, NC_000011.9:g.62435010G>C, NG_041802.1:g.885G>A, NG_041802.1:g.885G>C, XM_005274232.6:c.*487G>A, XM_005274232.6:c.*487G>C, XM_005274232.2:c.*487G>A, XM_005274232.2:c.*487G>C, NM_024099.5:c.523C>T, NM_024099.5:c.523C>G, NM_024099.4:c.523C>T, NM_024099.4:c.523C>G, NM_024099.3:c.523C>T, NM_024099.3:c.523C>G, NM_001367941.2:c.523C>T, NM_001367941.2:c.523C>G, NM_001367941.1:c.523C>T, NM_001367941.1:c.523C>G, NM_001043229.2:c.*487G>A, NM_001043229.2:c.*487G>C, NM_001367940.2:c.601C>T, NM_001367940.2:c.601C>G, NM_001367940.1:c.601C>T, NM_001367940.1:c.601C>G, NM_001394612.1:c.523C>T, NM_001394612.1:c.523C>G, NM_001394599.1:c.1015C>T, NM_001394599.1:c.1015C>G, NM_001394609.1:c.523C>T, NM_001394609.1:c.523C>G, NM_001394611.1:c.523C>T, NM_001394611.1:c.523C>G, NM_001394604.1:c.598C>T, NM_001394604.1:c.598C>G, NM_001394601.1:c.718C>T, NM_001394601.1:c.718C>G, NM_001394596.1:c.691C>T, NM_001394596.1:c.691C>G, NM_001394607.1:c.301C>T, NM_001394607.1:c.301C>G, NM_001394606.1:c.394C>T, NM_001394606.1:c.394C>G, NR_160410.1:n.727C>T, NR_160410.1:n.727C>G, NP_077004.2:p.Pro175Ser, NP_077004.2:p.Pro175Ala, NP_001354870.1:p.Pro175Ser, NP_001354870.1:p.Pro175Ala, NP_001354869.1:p.Pro201Ser, NP_001354869.1:p.Pro201Ala, NP_001381541.1:p.Pro175Ser, NP_001381541.1:p.Pro175Ala, NP_001381528.1:p.Pro339Ser, NP_001381528.1:p.Pro339Ala, NP_001381538.1:p.Pro175Ser, NP_001381538.1:p.Pro175Ala, NP_001381540.1:p.Pro175Ser, NP_001381540.1:p.Pro175Ala, NP_001381533.1:p.Pro200Ser, NP_001381533.1:p.Pro200Ala, NP_001381530.1:p.Pro240Ser, NP_001381530.1:p.Pro240Ala, NP_001381525.1:p.Pro231Ser, NP_001381525.1:p.Pro231Ala, NP_001381536.1:p.Pro101Ser, NP_001381536.1:p.Pro101Ala, NP_001381535.1:p.Pro132Ser, NP_001381535.1:p.Pro132Ala
11.
rs1486781105 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 11:62663712
(GRCh38)
11:62431184
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62663711:AAAA:AAA
- Gene:
- LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000177/3
(TOMMO)
- HGVS:
12.
rs1486688889 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 11:62664383
(GRCh38)
11:62431856
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62664383:GC:GCGC
- Gene:
- LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GCGC=0./0
(
ALFA)
GC=0.000004/1
(TOPMED)
- HGVS:
13.
rs1485796196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:62663444
(GRCh38)
11:62430916
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62663443:C:T
- Gene:
- LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
14.
rs1485705356 has merged into rs71056540 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:62664092
(GRCh38)
11:62431564
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62664082:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.03834/192
(1000Genomes)
- HGVS:
NC_000011.10:g.62664092_62664105del, NC_000011.10:g.62664093_62664105del, NC_000011.10:g.62664094_62664105del, NC_000011.10:g.62664095_62664105del, NC_000011.10:g.62664096_62664105del, NC_000011.10:g.62664098_62664105del, NC_000011.10:g.62664099_62664105del, NC_000011.10:g.62664100_62664105del, NC_000011.10:g.62664101_62664105del, NC_000011.10:g.62664102_62664105del, NC_000011.10:g.62664103_62664105del, NC_000011.10:g.62664104_62664105del, NC_000011.10:g.62664105del, NC_000011.10:g.62664105dup, NC_000011.10:g.62664104_62664105dup, NC_000011.10:g.62664103_62664105dup, NC_000011.10:g.62664102_62664105dup, NC_000011.10:g.62664099_62664105dup, NC_000011.10:g.62664095_62664105dup, NC_000011.10:g.62664094_62664105dup, NC_000011.10:g.62664093_62664105dup, NC_000011.10:g.62664092_62664105dup, NC_000011.10:g.62664088_62664105dup, NC_000011.10:g.62664086_62664105dup, NC_000011.10:g.62664084_62664105dup, NC_000011.10:g.62664083_62664105dup, NC_000011.10:g.62664105_62664106insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.62431564_62431577del, NC_000011.9:g.62431565_62431577del, NC_000011.9:g.62431566_62431577del, NC_000011.9:g.62431567_62431577del, NC_000011.9:g.62431568_62431577del, NC_000011.9:g.62431570_62431577del, NC_000011.9:g.62431571_62431577del, NC_000011.9:g.62431572_62431577del, NC_000011.9:g.62431573_62431577del, NC_000011.9:g.62431574_62431577del, NC_000011.9:g.62431575_62431577del, NC_000011.9:g.62431576_62431577del, NC_000011.9:g.62431577del, NC_000011.9:g.62431577dup, NC_000011.9:g.62431576_62431577dup, NC_000011.9:g.62431575_62431577dup, NC_000011.9:g.62431574_62431577dup, NC_000011.9:g.62431571_62431577dup, NC_000011.9:g.62431567_62431577dup, NC_000011.9:g.62431566_62431577dup, NC_000011.9:g.62431565_62431577dup, NC_000011.9:g.62431564_62431577dup, NC_000011.9:g.62431560_62431577dup, NC_000011.9:g.62431558_62431577dup, NC_000011.9:g.62431556_62431577dup, NC_000011.9:g.62431555_62431577dup, NC_000011.9:g.62431577_62431578insAAAAAAAAAAAAAAAAAAAAAAAA
15.
rs1485681378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:62666388
(GRCh38)
11:62433860
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62666387:G:A
- Gene:
- LBHD1 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
16.
rs1485392212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:62665490
(GRCh38)
11:62432962
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62665489:G:A
- Gene:
- LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000005/1
(GnomAD_exomes)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1485353977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:62665652
(GRCh38)
11:62433124
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62665651:C:T
- Gene:
- LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant,5_prime_UTR_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000011.10:g.62665652C>T, NC_000011.9:g.62433124C>T, XM_005274232.6:c.142C>T, XM_005274232.5:c.142C>T, XM_005274232.4:c.142C>T, XM_005274232.3:c.142C>T, XM_005274232.2:c.142C>T, XM_005274232.1:c.142C>T, NM_001043229.2:c.-228C>T, NM_001043229.1:c.-228C>T, XP_005274289.1:p.Arg48Trp
18.
rs1484864454 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 11:62665159
(GRCh38)
11:62432631
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62665158:GG:G
- Gene:
- LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
19.
rs1484642364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:62667873
(GRCh38)
11:62435345
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62667872:T:C
- Gene:
- LBHD1 (Varview), CSKMT (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1484545855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:62666986
(GRCh38)
11:62434458
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62666985:G:T
- Gene:
- LBHD1 (Varview), CSKMT (Varview), C11orf98 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.62666986G>T, NC_000011.9:g.62434458G>T, NG_041802.1:g.333G>T, XM_005274232.6:c.1027G>T, XM_005274232.5:c.1027G>T, XM_005274232.4:c.1027G>T, XM_005274232.3:c.1027G>T, XM_005274232.2:c.1027G>T, XM_005274232.1:c.1027G>T, NM_001043229.2:c.658G>T, NM_001043229.1:c.658G>T, XP_005274289.1:p.Val343Leu, NP_001036694.1:p.Val220Leu