SNP Links for Protein (Select 196259805) - SNP

Links from Protein

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Select item 14905491231.

rs1490549123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:81305089 (GRCh38)
5:80600908 (GRCh37)
Canonical SPDI:: NC_000005.10:81305088:G:A,NC_000005.10:81305088:G:C
Gene:: ZCCHC9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.81305089G>A, NC_000005.10:g.81305089G>C, NC_000005.9:g.80600908G>A, NC_000005.9:g.80600908G>C, NM_032280.3:c.332G>A, NM_032280.3:c.332G>C, NM_032280.2:c.332G>A, NM_032280.2:c.332G>C, NM_001131035.2:c.332G>A, NM_001131035.2:c.332G>C, NM_001131035.1:c.332G>A, NM_001131035.1:c.332G>C, NM_001131036.2:c.332G>A, NM_001131036.2:c.332G>C, NM_001131036.1:c.332G>A, NM_001131036.1:c.332G>C, XM_047417828.1:c.332G>A, XM_047417828.1:c.332G>C, XM_047417827.1:c.332G>A, XM_047417827.1:c.332G>C, NP_115656.1:p.Ser111Asn, NP_115656.1:p.Ser111Thr, NP_001124507.1:p.Ser111Asn, NP_001124507.1:p.Ser111Thr, NP_001124508.1:p.Ser111Asn, NP_001124508.1:p.Ser111Thr, XP_047273784.1:p.Ser111Asn, XP_047273784.1:p.Ser111Thr, XP_047273783.1:p.Ser111Asn, XP_047273783.1:p.Ser111Thr

Select item 14892828922.

rs1489282892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:81311213 (GRCh38)
5:80607032 (GRCh37)
Canonical SPDI:: NC_000005.10:81311212:G:C
Gene:: ZCCHC9 (Varview), ACOT12 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.81311213G>C, NC_000005.9:g.80607032G>C, NM_032280.3:c.631G>C, NM_032280.2:c.631G>C, NM_001131035.2:c.631G>C, NM_001131035.1:c.631G>C, NM_001131036.2:c.631G>C, NM_001131036.1:c.631G>C, XM_047417828.1:c.631G>C, XM_047417827.1:c.631G>C, NP_115656.1:p.Gly211Arg, NP_001124507.1:p.Gly211Arg, NP_001124508.1:p.Gly211Arg, XP_047273784.1:p.Gly211Arg, XP_047273783.1:p.Gly211Arg

Select item 14891526283.

rs1489152628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:81305005 (GRCh38)
5:80600824 (GRCh37)
Canonical SPDI:: NC_000005.10:81305004:C:G
Gene:: ZCCHC9 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81305005C>G, NC_000005.9:g.80600824C>G, NM_032280.3:c.248C>G, NM_032280.2:c.248C>G, NM_001131035.2:c.248C>G, NM_001131035.1:c.248C>G, NM_001131036.2:c.248C>G, NM_001131036.1:c.248C>G, XM_047417828.1:c.248C>G, XM_047417827.1:c.248C>G, NP_115656.1:p.Ser83Ter, NP_001124507.1:p.Ser83Ter, NP_001124508.1:p.Ser83Ter, XP_047273784.1:p.Ser83Ter, XP_047273783.1:p.Ser83Ter

Select item 14882416394.

rs1488241639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81305107 (GRCh38)
5:80600926 (GRCh37)
Canonical SPDI:: NC_000005.10:81305106:G:A
Gene:: ZCCHC9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81305107G>A, NC_000005.9:g.80600926G>A, NM_032280.3:c.350G>A, NM_032280.2:c.350G>A, NM_001131035.2:c.350G>A, NM_001131035.1:c.350G>A, NM_001131036.2:c.350G>A, NM_001131036.1:c.350G>A, XM_047417828.1:c.350G>A, XM_047417827.1:c.350G>A, NP_115656.1:p.Arg117Lys, NP_001124507.1:p.Arg117Lys, NP_001124508.1:p.Arg117Lys, XP_047273784.1:p.Arg117Lys, XP_047273783.1:p.Arg117Lys

Select item 14872306375.

rs1487230637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81308988 (GRCh38)
5:80604807 (GRCh37)
Canonical SPDI:: NC_000005.10:81308987:G:A
Gene:: ZCCHC9 (Varview), ACOT12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.81308988G>A, NC_000005.9:g.80604807G>A, NM_032280.3:c.578G>A, NM_032280.2:c.578G>A, XM_017009045.2:c.*1987C>T, XM_017009046.2:c.*1987C>T, XM_017009047.2:c.*1987C>T, XM_017009048.2:c.*1987C>T, NM_001131035.2:c.578G>A, NM_001131035.1:c.578G>A, NM_001131036.2:c.578G>A, NM_001131036.1:c.578G>A, XM_047417828.1:c.578G>A, XM_047417827.1:c.578G>A, NP_115656.1:p.Gly193Glu, NP_001124507.1:p.Gly193Glu, NP_001124508.1:p.Gly193Glu, XP_047273784.1:p.Gly193Glu, XP_047273783.1:p.Gly193Glu

Select item 14858432856.

rs1485843285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:81304924 (GRCh38)
5:80600743 (GRCh37)
Canonical SPDI:: NC_000005.10:81304923:C:G
Gene:: ZCCHC9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.81304924C>G, NC_000005.9:g.80600743C>G, NM_032280.3:c.167C>G, NM_032280.2:c.167C>G, NM_001131035.2:c.167C>G, NM_001131035.1:c.167C>G, NM_001131036.2:c.167C>G, NM_001131036.1:c.167C>G, XM_047417828.1:c.167C>G, XM_047417827.1:c.167C>G, NP_115656.1:p.Ala56Gly, NP_001124507.1:p.Ala56Gly, NP_001124508.1:p.Ala56Gly, XP_047273784.1:p.Ala56Gly, XP_047273783.1:p.Ala56Gly

Select item 14833667647.

rs1483366764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:81308644 (GRCh38)
5:80604463 (GRCh37)
Canonical SPDI:: NC_000005.10:81308643:A:G
Gene:: ZCCHC9 (Varview), ACOT12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.81308644A>G, NC_000005.9:g.80604463A>G, NM_032280.3:c.468A>G, NM_032280.2:c.468A>G, XM_017009045.2:c.*2331T>C, XM_017009046.2:c.*2331T>C, XM_017009047.2:c.*2331T>C, XM_017009048.2:c.*2331T>C, NM_001131035.2:c.468A>G, NM_001131035.1:c.468A>G, NM_001131036.2:c.468A>G, NM_001131036.1:c.468A>G, XM_047417828.1:c.468A>G, XM_047417827.1:c.468A>G, NP_115656.1:p.Ile156Met, NP_001124507.1:p.Ile156Met, NP_001124508.1:p.Ile156Met, XP_047273784.1:p.Ile156Met, XP_047273783.1:p.Ile156Met

Select item 14803459608.

rs1480345960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:81312591 (GRCh38)
5:80608410 (GRCh37)
Canonical SPDI:: NC_000005.10:81312590:T:C
Gene:: ZCCHC9 (Varview), ACOT12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.81312591T>C, NC_000005.9:g.80608410T>C, NM_032280.3:c.745T>C, NM_032280.2:c.745T>C, NM_001131035.2:c.745T>C, NM_001131035.1:c.745T>C, NM_001131036.2:c.745T>C, NM_001131036.1:c.745T>C, XM_047417828.1:c.745T>C, XM_047417827.1:c.745T>C, NP_115656.1:p.Tyr249His, NP_001124507.1:p.Tyr249His, NP_001124508.1:p.Tyr249His, XP_047273784.1:p.Tyr249His, XP_047273783.1:p.Tyr249His

Select item 14785828379.

rs1478582837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81308690 (GRCh38)
5:80604509 (GRCh37)
Canonical SPDI:: NC_000005.10:81308689:G:A
Gene:: ZCCHC9 (Varview), ACOT12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81308690G>A, NC_000005.9:g.80604509G>A, NM_032280.3:c.514G>A, NM_032280.2:c.514G>A, XM_017009045.2:c.*2285C>T, XM_017009046.2:c.*2285C>T, XM_017009047.2:c.*2285C>T, XM_017009048.2:c.*2285C>T, NM_001131035.2:c.514G>A, NM_001131035.1:c.514G>A, NM_001131036.2:c.514G>A, NM_001131036.1:c.514G>A, XM_047417828.1:c.514G>A, XM_047417827.1:c.514G>A, NP_115656.1:p.Ala172Thr, NP_001124507.1:p.Ala172Thr, NP_001124508.1:p.Ala172Thr, XP_047273784.1:p.Ala172Thr, XP_047273783.1:p.Ala172Thr

Select item 147778332810.

rs1477783328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:81305018 (GRCh38)
5:80600837 (GRCh37)
Canonical SPDI:: NC_000005.10:81305017:C:T
Gene:: ZCCHC9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81305018C>T, NC_000005.9:g.80600837C>T, NM_032280.3:c.261C>T, NM_032280.2:c.261C>T, NM_001131035.2:c.261C>T, NM_001131035.1:c.261C>T, NM_001131036.2:c.261C>T, NM_001131036.1:c.261C>T, XM_047417828.1:c.261C>T, XM_047417827.1:c.261C>T

Select item 146691800611.

rs1466918006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:81308621 (GRCh38)
5:80604440 (GRCh37)
Canonical SPDI:: NC_000005.10:81308620:A:G
Gene:: ZCCHC9 (Varview), ACOT12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81308621A>G, NC_000005.9:g.80604440A>G, NM_032280.3:c.445A>G, NM_032280.2:c.445A>G, XM_017009045.2:c.*2354T>C, XM_017009046.2:c.*2354T>C, XM_017009047.2:c.*2354T>C, XM_017009048.2:c.*2354T>C, NM_001131035.2:c.445A>G, NM_001131035.1:c.445A>G, NM_001131036.2:c.445A>G, NM_001131036.1:c.445A>G, XM_047417828.1:c.445A>G, XM_047417827.1:c.445A>G, NP_115656.1:p.Asn149Asp, NP_001124507.1:p.Asn149Asp, NP_001124508.1:p.Asn149Asp, XP_047273784.1:p.Asn149Asp, XP_047273783.1:p.Asn149Asp

Select item 146686493912.

rs1466864939 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:81304912 (GRCh38)
5:80600731 (GRCh37)
Canonical SPDI:: NC_000005.10:81304911:A:G
Gene:: ZCCHC9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81304912A>G, NC_000005.9:g.80600731A>G, NM_032280.3:c.155A>G, NM_032280.2:c.155A>G, NM_001131035.2:c.155A>G, NM_001131035.1:c.155A>G, NM_001131036.2:c.155A>G, NM_001131036.1:c.155A>G, XM_047417828.1:c.155A>G, XM_047417827.1:c.155A>G, NP_115656.1:p.Asp52Gly, NP_001124507.1:p.Asp52Gly, NP_001124508.1:p.Asp52Gly, XP_047273784.1:p.Asp52Gly, XP_047273783.1:p.Asp52Gly

Select item 146321866413.

rs1463218664 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 5:81305083 (GRCh38)
5:80600902 (GRCh37)
Canonical SPDI:: NC_000005.10:81305077:AAAGAAAGA:AAAGA
Gene:: ZCCHC9 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.81305079AAGA[1], NC_000005.9:g.80600898AAGA[1], NM_032280.3:c.326_329del, NM_032280.2:c.326_329del, NM_001131035.2:c.326_329del, NM_001131035.1:c.326_329del, NM_001131036.2:c.326_329del, NM_001131036.1:c.326_329del, XM_047417828.1:c.326_329del, XM_047417827.1:c.326_329del, NP_115656.1:p.Lys109fs, NP_001124507.1:p.Lys109fs, NP_001124508.1:p.Lys109fs, XP_047273784.1:p.Lys109fs, XP_047273783.1:p.Lys109fs

Select item 145419676214.

rs1454196762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81308597 (GRCh38)
5:80604416 (GRCh37)
Canonical SPDI:: NC_000005.10:81308596:G:A
Gene:: ZCCHC9 (Varview), ACOT12 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,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)
HGVS:: NC_000005.10:g.81308597G>A, NC_000005.9:g.80604416G>A, NM_032280.3:c.421G>A, NM_032280.2:c.421G>A, NM_001131035.2:c.421G>A, NM_001131035.1:c.421G>A, NM_001131036.2:c.421G>A, NM_001131036.1:c.421G>A, XM_047417828.1:c.421G>A, XM_047417827.1:c.421G>A, NP_115656.1:p.Ala141Thr, NP_001124507.1:p.Ala141Thr, NP_001124508.1:p.Ala141Thr, XP_047273784.1:p.Ala141Thr, XP_047273783.1:p.Ala141Thr

Select item 145198352515.

rs1451983525 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 5:81304833 (GRCh38)
5:80600652 (GRCh37)
Canonical SPDI:: NC_000005.10:81304828:GAAGAAG:GAAG
Gene:: ZCCHC9 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81304830AAG[1], NC_000005.9:g.80600649AAG[1], NM_032280.3:c.73AAG[1], NM_032280.2:c.73AAG[1], NM_001131035.2:c.73AAG[1], NM_001131035.1:c.73AAG[1], NM_001131036.2:c.73AAG[1], NM_001131036.1:c.73AAG[1], XM_047417828.1:c.73AAG[1], XM_047417827.1:c.73AAG[1], NP_115656.1:p.Lys26del, NP_001124507.1:p.Lys26del, NP_001124508.1:p.Lys26del, XP_047273784.1:p.Lys26del, XP_047273783.1:p.Lys26del

Select item 144646424916.

rs1446464249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:81312576 (GRCh38)
5:80608395 (GRCh37)
Canonical SPDI:: NC_000005.10:81312575:G:C
Gene:: ZCCHC9 (Varview), ACOT12 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.81312576G>C, NC_000005.9:g.80608395G>C, NM_032280.3:c.730G>C, NM_032280.2:c.730G>C, NM_001131035.2:c.730G>C, NM_001131035.1:c.730G>C, NM_001131036.2:c.730G>C, NM_001131036.1:c.730G>C, XM_047417828.1:c.730G>C, XM_047417827.1:c.730G>C, NP_115656.1:p.Gly244Arg, NP_001124507.1:p.Gly244Arg, NP_001124508.1:p.Gly244Arg, XP_047273784.1:p.Gly244Arg, XP_047273783.1:p.Gly244Arg

Select item 144604438817.

rs1446044388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:81309012 (GRCh38)
5:80604831 (GRCh37)
Canonical SPDI:: NC_000005.10:81309011:A:T
Gene:: ZCCHC9 (Varview), ACOT12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81309012A>T, NC_000005.9:g.80604831A>T, NM_032280.3:c.602A>T, NM_032280.2:c.602A>T, XM_017009045.2:c.*1963T>A, XM_017009046.2:c.*1963T>A, XM_017009047.2:c.*1963T>A, XM_017009048.2:c.*1963T>A, NM_001131035.2:c.602A>T, NM_001131035.1:c.602A>T, NM_001131036.2:c.602A>T, NM_001131036.1:c.602A>T, XM_047417828.1:c.602A>T, XM_047417827.1:c.602A>T, NP_115656.1:p.Asp201Val, NP_001124507.1:p.Asp201Val, NP_001124508.1:p.Asp201Val, XP_047273784.1:p.Asp201Val, XP_047273783.1:p.Asp201Val

Select item 143906590918.

rs1439065909 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 5:81304946 (GRCh38)
5:80600765 (GRCh37)
Canonical SPDI:: NC_000005.10:81304943:AAGAA:AA
Gene:: ZCCHC9 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81304946_81304948del, NC_000005.9:g.80600765_80600767del, NM_032280.3:c.189_191del, NM_032280.2:c.189_191del, NM_001131035.2:c.189_191del, NM_001131035.1:c.189_191del, NM_001131036.2:c.189_191del, NM_001131036.1:c.189_191del, XM_047417828.1:c.189_191del, XM_047417827.1:c.189_191del, NP_115656.1:p.Lys65del, NP_001124507.1:p.Lys65del, NP_001124508.1:p.Lys65del, XP_047273784.1:p.Lys65del, XP_047273783.1:p.Lys65del

Select item 143684677419.

rs1436846774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:81304815 (GRCh38)
5:80600634 (GRCh37)
Canonical SPDI:: NC_000005.10:81304814:T:C
Gene:: ZCCHC9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81304815T>C, NC_000005.9:g.80600634T>C, NM_032280.3:c.58T>C, NM_032280.2:c.58T>C, NM_001131035.2:c.58T>C, NM_001131035.1:c.58T>C, NM_001131036.2:c.58T>C, NM_001131036.1:c.58T>C, XM_047417828.1:c.58T>C, XM_047417827.1:c.58T>C, NP_115656.1:p.Ser20Pro, NP_001124507.1:p.Ser20Pro, NP_001124508.1:p.Ser20Pro, XP_047273784.1:p.Ser20Pro, XP_047273783.1:p.Ser20Pro

Select item 143432128720.

rs1434321287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:81311212 (GRCh38)
5:80607031 (GRCh37)
Canonical SPDI:: NC_000005.10:81311211:T:C
Gene:: ZCCHC9 (Varview), ACOT12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.81311212T>C, NC_000005.9:g.80607031T>C, NM_032280.3:c.630T>C, NM_032280.2:c.630T>C, NM_001131035.2:c.630T>C, NM_001131035.1:c.630T>C, NM_001131036.2:c.630T>C, NM_001131036.1:c.630T>C, XM_047417828.1:c.630T>C, XM_047417827.1:c.630T>C

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