Links from Gene
Items: 1 to 20 of 4073
1.
rs1491521262 has merged into rs1180851983 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:99488081
(GRCh38)
7:99085704
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF394 (Varview), ZNF789 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.99488081_99488093del, NC_000007.14:g.99488083_99488093del, NC_000007.14:g.99488087_99488093del, NC_000007.14:g.99488088_99488093del, NC_000007.14:g.99488089_99488093del, NC_000007.14:g.99488090_99488093del, NC_000007.14:g.99488091_99488093del, NC_000007.14:g.99488092_99488093del, NC_000007.14:g.99488093del, NC_000007.14:g.99488093dup, NC_000007.14:g.99488092_99488093dup, NC_000007.14:g.99488091_99488093dup, NC_000007.14:g.99488090_99488093dup, NC_000007.14:g.99488089_99488093dup, NC_000007.14:g.99488088_99488093dup, NC_000007.13:g.99085704_99085716del, NC_000007.13:g.99085706_99085716del, NC_000007.13:g.99085710_99085716del, NC_000007.13:g.99085711_99085716del, NC_000007.13:g.99085712_99085716del, NC_000007.13:g.99085713_99085716del, NC_000007.13:g.99085714_99085716del, NC_000007.13:g.99085715_99085716del, NC_000007.13:g.99085716del, NC_000007.13:g.99085716dup, NC_000007.13:g.99085715_99085716dup, NC_000007.13:g.99085714_99085716dup, NC_000007.13:g.99085713_99085716dup, NC_000007.13:g.99085712_99085716dup, NC_000007.13:g.99085711_99085716dup
3.
rs1491037949 has merged into rs59681284 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:99475817
(GRCh38)
7:99073440
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99475806:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.125/5
(GENOME_DK)
- HGVS:
NC_000007.14:g.99475817_99475823del, NC_000007.14:g.99475818_99475823del, NC_000007.14:g.99475819_99475823del, NC_000007.14:g.99475820_99475823del, NC_000007.14:g.99475821_99475823del, NC_000007.14:g.99475822_99475823del, NC_000007.14:g.99475823del, NC_000007.14:g.99475823dup, NC_000007.14:g.99475822_99475823dup, NC_000007.14:g.99475821_99475823dup, NC_000007.14:g.99475820_99475823dup, NC_000007.14:g.99475819_99475823dup, NC_000007.14:g.99475818_99475823dup, NC_000007.14:g.99475817_99475823dup, NC_000007.14:g.99475811_99475823dup, NC_000007.14:g.99475823_99475824insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.99073440_99073446del, NC_000007.13:g.99073441_99073446del, NC_000007.13:g.99073442_99073446del, NC_000007.13:g.99073443_99073446del, NC_000007.13:g.99073444_99073446del, NC_000007.13:g.99073445_99073446del, NC_000007.13:g.99073446del, NC_000007.13:g.99073446dup, NC_000007.13:g.99073445_99073446dup, NC_000007.13:g.99073444_99073446dup, NC_000007.13:g.99073443_99073446dup, NC_000007.13:g.99073442_99073446dup, NC_000007.13:g.99073441_99073446dup, NC_000007.13:g.99073440_99073446dup, NC_000007.13:g.99073434_99073446dup, NC_000007.13:g.99073446_99073447insTTTTTTTTTTTTTTTTTTTTT
4.
rs1490973924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:99471812
(GRCh38)
7:99069435
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99471811:G:A
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490961487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:99484886
(GRCh38)
7:99082509
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99484885:A:G
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000546/1
(Korea1K)
- HGVS:
6.
rs1490778776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:99478596
(GRCh38)
7:99076219
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99478595:G:A,NC_000007.14:99478595:G:T
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000007.14:g.99478596G>A, NC_000007.14:g.99478596G>T, NC_000007.13:g.99076219G>A, NC_000007.13:g.99076219G>T, XM_024446725.2:c.-4964G>A, XM_024446725.2:c.-4964G>T, XM_017012022.2:c.-1886G>A, XM_017012022.2:c.-1886G>T, XM_047420230.1:c.-5097G>A, XM_047420230.1:c.-5097G>T, XM_047420229.1:c.-3462G>A, XM_047420229.1:c.-3462G>T
7.
rs1490475807 has merged into rs1180851983 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:99488081
(GRCh38)
7:99085704
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99488071:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF394 (Varview), ZNF789 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.99488081_99488093del, NC_000007.14:g.99488083_99488093del, NC_000007.14:g.99488087_99488093del, NC_000007.14:g.99488088_99488093del, NC_000007.14:g.99488089_99488093del, NC_000007.14:g.99488090_99488093del, NC_000007.14:g.99488091_99488093del, NC_000007.14:g.99488092_99488093del, NC_000007.14:g.99488093del, NC_000007.14:g.99488093dup, NC_000007.14:g.99488092_99488093dup, NC_000007.14:g.99488091_99488093dup, NC_000007.14:g.99488090_99488093dup, NC_000007.14:g.99488089_99488093dup, NC_000007.14:g.99488088_99488093dup, NC_000007.13:g.99085704_99085716del, NC_000007.13:g.99085706_99085716del, NC_000007.13:g.99085710_99085716del, NC_000007.13:g.99085711_99085716del, NC_000007.13:g.99085712_99085716del, NC_000007.13:g.99085713_99085716del, NC_000007.13:g.99085714_99085716del, NC_000007.13:g.99085715_99085716del, NC_000007.13:g.99085716del, NC_000007.13:g.99085716dup, NC_000007.13:g.99085715_99085716dup, NC_000007.13:g.99085714_99085716dup, NC_000007.13:g.99085713_99085716dup, NC_000007.13:g.99085712_99085716dup, NC_000007.13:g.99085711_99085716dup
9.
rs1490005155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:99480540
(GRCh38)
7:99078163
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99480539:C:T
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489958436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:99483277
(GRCh38)
7:99080900
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99483276:G:A,NC_000007.14:99483276:G:C
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
11.
rs1489830169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:99471425
(GRCh38)
7:99069048
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99471424:T:C
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
12.
rs1489462713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:99471045
(GRCh38)
7:99068668
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99471044:G:A,NC_000007.14:99471044:G:C
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489328800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:99473109
(GRCh38)
7:99070732
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99473108:C:A,NC_000007.14:99473108:C:T
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489266795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:99479701
(GRCh38)
7:99077324
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99479700:G:A
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_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_000007.14:g.99479701G>A, NC_000007.13:g.99077324G>A, NM_213603.3:c.65G>A, NM_213603.2:c.65G>A, XM_024446725.2:c.-3859G>A, XM_017012022.2:c.-781G>A, NR_147003.2:n.369G>A, NR_147003.1:n.367G>A, NM_001351001.2:c.65G>A, NM_001351001.1:c.65G>A, NM_001351004.2:c.-382G>A, NM_001351004.1:c.-382G>A, NM_001351002.2:c.-382G>A, NM_001351002.1:c.-382G>A, NM_001350999.2:c.14G>A, NM_001350999.1:c.14G>A, NM_001351000.2:c.65G>A, NM_001351000.1:c.65G>A, XM_017012018.2:c.65G>A, XM_017012018.1:c.65G>A, NR_147001.2:n.369G>A, NR_147001.1:n.367G>A, NR_147002.2:n.286G>A, NR_147002.1:n.284G>A, NM_001013258.2:c.65G>A, NM_001013258.1:c.65G>A, XM_047420230.1:c.-3992G>A, XM_047420229.1:c.-2357G>A, XM_047420226.1:c.44G>A, XM_047420227.1:c.44G>A, XM_047420231.1:c.65G>A, XM_047420228.1:c.44G>A, NP_998768.2:p.Arg22Lys, NP_001337930.1:p.Arg22Lys, NP_001337928.1:p.Arg5Lys, NP_001337929.1:p.Arg22Lys, XP_016867507.1:p.Arg22Lys, NP_001013276.1:p.Arg22Lys, XP_047276182.1:p.Arg15Lys, XP_047276183.1:p.Arg15Lys, XP_047276187.1:p.Arg22Lys, XP_047276184.1:p.Arg15Lys
16.
rs1489154787 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGC>-
[Show Flanks]
- Chromosome:
- 7:99485301
(GRCh38)
7:99082924
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99485299:CTGTGC:C
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD_exomes)
- HGVS:
17.
rs1488996838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:99472063
(GRCh38)
7:99069686
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99472062:A:C
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000531/3
(
ALFA)
C=0.000024/3
(GnomAD)
C=0.000178/3
(TOMMO)
- HGVS:
18.
rs1488656163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:99474030
(GRCh38)
7:99071653
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99474029:G:A
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488531982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:99471726
(GRCh38)
7:99069349
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99471725:G:T
- Gene:
- ZNF789 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
20.
rs1488162954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:99486753
(GRCh38)
7:99084376
(GRCh37)
- Canonical SPDI:
- NC_000007.14:99486752:C:G
- Gene:
- ZNF394 (Varview), ZNF789 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000007.14:g.99486753C>G, NC_000007.13:g.99084376C>G, NM_213603.3:c.543C>G, NM_213603.2:c.543C>G, XM_024446725.2:c.258C>G, XM_024446725.1:c.258C>G, XM_017012022.2:c.492C>G, XM_017012022.1:c.492C>G, NM_001351004.2:c.258C>G, NM_001351004.1:c.258C>G, NM_001351002.2:c.258C>G, NM_001351002.1:c.258C>G, NM_001350999.2:c.492C>G, NM_001350999.1:c.492C>G, NM_001351000.2:c.429C>G, NM_001351000.1:c.429C>G, XM_017012018.2:c.543C>G, XM_017012018.1:c.543C>G, NM_001345968.2:c.*188G>C, NM_001345968.1:c.*188G>C, XM_047420230.1:c.258C>G, XM_047420229.1:c.492C>G, XM_047420226.1:c.522C>G, XM_047420227.1:c.522C>G, XM_047420228.1:c.522C>G