SNP Links for Protein (Select 315707006) - SNP - NCBI

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Links from Protein

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Select item 14905617021.

rs1490561702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83172007 (GRCh38)
6:83881726 (GRCh37)
Canonical SPDI:: NC_000006.12:83172006:A:G
Gene:: PGM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83172007A>G, NC_000006.11:g.83881726A>G, NG_034146.2:g.26894T>C, NM_015599.3:c.1295T>C, NM_015599.2:c.1295T>C, NM_001199917.2:c.1379T>C, NM_001199917.1:c.1379T>C, NM_001199918.2:c.1052T>C, NM_001199918.1:c.1052T>C, NR_159812.2:n.1384T>C, NR_159812.1:n.1384T>C, NM_001199919.2:c.1295T>C, NM_001199919.1:c.1295T>C, NM_001367287.1:c.1379T>C, XR_001743468.3:n.1178T>C, XR_001743468.2:n.1179T>C, XR_001743468.1:n.1179T>C, XR_942480.3:n.1178T>C, XR_942480.2:n.1179T>C, XR_942480.1:n.1179T>C, XM_017010935.2:c.1052T>C, XM_017010935.1:c.1052T>C, XR_007059273.1:n.1384T>C, XR_007059272.1:n.1375T>C, XR_007059270.1:n.1178T>C, XR_007059271.1:n.1375T>C, XM_047418876.1:c.1295T>C, NP_056414.1:p.Leu432Pro, NP_001186846.1:p.Leu460Pro, NP_001186847.1:p.Leu351Pro, NP_001186848.1:p.Leu432Pro, NP_001354216.1:p.Leu460Pro, XP_016866424.1:p.Leu351Pro, XP_047274832.1:p.Leu432Pro

Select item 14904368942.

rs1490436894 has merged into rs764377394 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 6:83190851 (GRCh38)
6:83900570 (GRCh37)
Canonical SPDI:: NC_000006.12:83190850:TTTT:TTT,NC_000006.12:83190850:TTTT:TTTTT
Gene:: PGM3 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000006.12:g.83190854del, NC_000006.12:g.83190854dup, NC_000006.11:g.83900573del, NC_000006.11:g.83900573dup, NG_034146.2:g.8050del, NG_034146.2:g.8050dup, NM_015599.3:c.162del, NM_015599.3:c.162dup, NM_015599.2:c.162del, NM_015599.2:c.162dup, NM_001199917.2:c.246del, NM_001199917.2:c.246dup, NM_001199917.1:c.246del, NM_001199917.1:c.246dup, NR_159812.2:n.251del, NR_159812.2:n.251dup, NR_159812.1:n.251del, NR_159812.1:n.251dup, NM_001199919.2:c.162del, NM_001199919.2:c.162dup, NM_001199919.1:c.162del, NM_001199919.1:c.162dup, NM_001367287.1:c.246del, NM_001367287.1:c.246dup, NM_001367286.1:c.162del, NM_001367286.1:c.162dup, XR_007059273.1:n.251del, XR_007059273.1:n.251dup, XR_007059272.1:n.242del, XR_007059272.1:n.242dup, XM_047418877.1:c.162del, XM_047418877.1:c.162dup, XR_007059271.1:n.242del, XR_007059271.1:n.242dup, XM_047418876.1:c.162del, XM_047418876.1:c.162dup, NP_056414.1:p.Lys54fs, NP_056414.1:p.Ser55fs, NP_001186846.1:p.Lys82fs, NP_001186846.1:p.Ser83fs, NP_001186848.1:p.Lys54fs, NP_001186848.1:p.Ser55fs, NP_001354216.1:p.Lys82fs, NP_001354216.1:p.Ser83fs, NP_001354215.1:p.Lys54fs, NP_001354215.1:p.Ser55fs, XP_047274833.1:p.Lys54fs, XP_047274833.1:p.Ser55fs, XP_047274832.1:p.Lys54fs, XP_047274832.1:p.Ser55fs

Select item 14854285673.

rs1485428567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:83169259 (GRCh38)
6:83878978 (GRCh37)
Canonical SPDI:: NC_000006.12:83169258:C:G
Gene:: PGM3 (Varview), DOP1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.83169259C>G, NC_000006.11:g.83878978C>G, NG_034146.2:g.29642G>C, NM_015599.3:c.1604G>C, NM_015599.2:c.1604G>C, NM_001199917.2:c.1688G>C, NM_001199917.1:c.1688G>C, NM_001199918.2:c.*39G>C, NM_001199918.1:c.*39G>C, NR_159812.2:n.1693G>C, NR_159812.1:n.1693G>C, NM_001199919.2:c.1604G>C, NM_001199919.1:c.1604G>C, NM_001367287.1:c.1688G>C, NM_001367286.1:c.1481G>C, XR_001743468.3:n.1487G>C, XR_001743468.2:n.1488G>C, XR_001743468.1:n.1488G>C, XR_942480.3:n.1487G>C, XR_942480.2:n.1488G>C, XR_942480.1:n.1488G>C, XM_017010935.2:c.1361G>C, XM_017010935.1:c.1361G>C, XM_017010937.2:c.1238G>C, XM_017010937.1:c.1238G>C, XR_007059273.1:n.1693G>C, XR_007059272.1:n.1684G>C, XM_047418442.1:c.*1092C>G, XM_047418447.1:c.*1092C>G, XM_047418446.1:c.*1092C>G, XM_047418450.1:c.*1092C>G, XM_047418451.1:c.*1092C>G, XM_047418449.1:c.*1092C>G, XM_047418455.1:c.*1092C>G, XR_007059270.1:n.1487G>C, XM_047418877.1:c.1481G>C, XR_007059271.1:n.1684G>C, XM_047418876.1:c.1604G>C, NP_056414.1:p.Gly535Ala, NP_001186846.1:p.Gly563Ala, NP_001186848.1:p.Gly535Ala, NP_001354216.1:p.Gly563Ala, NP_001354215.1:p.Gly494Ala, XP_016866424.1:p.Gly454Ala, XP_016866426.1:p.Gly413Ala, XP_047274833.1:p.Gly494Ala, XP_047274832.1:p.Gly535Ala

Select item 14847148434.

rs1484714843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:83190867 (GRCh38)
6:83900586 (GRCh37)
Canonical SPDI:: NC_000006.12:83190866:C:A
Gene:: PGM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_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_000006.12:g.83190867C>A, NC_000006.11:g.83900586C>A, NG_034146.2:g.8034G>T, NM_015599.3:c.146G>T, NM_015599.2:c.146G>T, NM_001199917.2:c.230G>T, NM_001199917.1:c.230G>T, NR_159812.2:n.235G>T, NR_159812.1:n.235G>T, NM_001199919.2:c.146G>T, NM_001199919.1:c.146G>T, NM_001367287.1:c.230G>T, NM_001367286.1:c.146G>T, XR_007059273.1:n.235G>T, XR_007059272.1:n.226G>T, XM_047418877.1:c.146G>T, XR_007059271.1:n.226G>T, XM_047418876.1:c.146G>T, NP_056414.1:p.Arg49Met, NP_001186846.1:p.Arg77Met, NP_001186848.1:p.Arg49Met, NP_001354216.1:p.Arg77Met, NP_001354215.1:p.Arg49Met, XP_047274833.1:p.Arg49Met, XP_047274832.1:p.Arg49Met

Select item 14834005675.

rs1483400567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83190908 (GRCh38)
6:83900627 (GRCh37)
Canonical SPDI:: NC_000006.12:83190907:A:G
Gene:: PGM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83190908A>G, NC_000006.11:g.83900627A>G, NG_034146.2:g.7993T>C, NM_015599.3:c.105T>C, NM_015599.2:c.105T>C, NM_001199917.2:c.189T>C, NM_001199917.1:c.189T>C, NR_159812.2:n.194T>C, NR_159812.1:n.194T>C, NM_001199919.2:c.105T>C, NM_001199919.1:c.105T>C, NM_001367287.1:c.189T>C, NM_001367286.1:c.105T>C, XR_007059273.1:n.194T>C, XR_007059272.1:n.185T>C, XM_047418877.1:c.105T>C, XR_007059271.1:n.185T>C, XM_047418876.1:c.105T>C

Select item 14828747836.

rs1482874783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:83179919 (GRCh38)
6:83889638 (GRCh37)
Canonical SPDI:: NC_000006.12:83179918:G:T
Gene:: PGM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.83179919G>T, NC_000006.11:g.83889638G>T, NG_034146.2:g.18982C>A, NM_015599.3:c.836C>A, NM_015599.2:c.836C>A, NM_001199917.2:c.920C>A, NM_001199917.1:c.920C>A, NM_001199918.2:c.593C>A, NM_001199918.1:c.593C>A, NR_159812.2:n.925C>A, NR_159812.1:n.925C>A, NM_001199919.2:c.836C>A, NM_001199919.1:c.836C>A, NM_001367287.1:c.920C>A, NM_001367286.1:c.836C>A, XR_001743468.3:n.719C>A, XR_001743468.2:n.720C>A, XR_001743468.1:n.720C>A, XR_942480.3:n.719C>A, XR_942480.2:n.720C>A, XR_942480.1:n.720C>A, XM_017010935.2:c.593C>A, XM_017010935.1:c.593C>A, XM_017010937.2:c.593C>A, XM_017010937.1:c.593C>A, XR_007059273.1:n.925C>A, XR_007059272.1:n.916C>A, XR_007059270.1:n.719C>A, XM_047418877.1:c.836C>A, XR_007059271.1:n.916C>A, XM_047418876.1:c.836C>A, NP_056414.1:p.Ala279Glu, NP_001186846.1:p.Ala307Glu, NP_001186847.1:p.Ala198Glu, NP_001186848.1:p.Ala279Glu, NP_001354216.1:p.Ala307Glu, NP_001354215.1:p.Ala279Glu, XP_016866424.1:p.Ala198Glu, XP_016866426.1:p.Ala198Glu, XP_047274833.1:p.Ala279Glu, XP_047274832.1:p.Ala279Glu

Select item 14812918747.

rs1481291874 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:83179966 (GRCh38)
6:83889686 (GRCh37)
Canonical SPDI:: NC_000006.12:83179966:CC:CCC
Gene:: PGM3 (Varview)
Functional Consequence:: splice_acceptor_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.83179968dup, NC_000006.11:g.83889687dup, NG_034146.2:g.18934dup

Select item 14803062848.

rs1480306284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:83176033 (GRCh38)
6:83885752 (GRCh37)
Canonical SPDI:: NC_000006.12:83176032:C:T
Gene:: PGM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83176033C>T, NC_000006.11:g.83885752C>T, NG_034146.2:g.22868G>A, NM_015599.3:c.1057G>A, NM_015599.2:c.1057G>A, NM_001199917.2:c.1141G>A, NM_001199917.1:c.1141G>A, NM_001199918.2:c.814G>A, NM_001199918.1:c.814G>A, NR_159812.2:n.1146G>A, NR_159812.1:n.1146G>A, NM_001199919.2:c.1057G>A, NM_001199919.1:c.1057G>A, NM_001367287.1:c.1141G>A, NM_001367286.1:c.1057G>A, XR_001743468.3:n.940G>A, XR_001743468.2:n.941G>A, XR_001743468.1:n.941G>A, XR_942480.3:n.940G>A, XR_942480.2:n.941G>A, XR_942480.1:n.941G>A, XM_017010935.2:c.814G>A, XM_017010935.1:c.814G>A, XM_017010937.2:c.814G>A, XM_017010937.1:c.814G>A, XR_007059273.1:n.1146G>A, XR_007059272.1:n.1137G>A, XR_007059270.1:n.940G>A, XM_047418877.1:c.1057G>A, XR_007059271.1:n.1137G>A, XM_047418876.1:c.1057G>A, NP_056414.1:p.Val353Ile, NP_001186846.1:p.Val381Ile, NP_001186847.1:p.Val272Ile, NP_001186848.1:p.Val353Ile, NP_001354216.1:p.Val381Ile, NP_001354215.1:p.Val353Ile, XP_016866424.1:p.Val272Ile, XP_016866426.1:p.Val272Ile, XP_047274833.1:p.Val353Ile, XP_047274832.1:p.Val353Ile

Select item 14796225249.

rs1479622524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:83191237 (GRCh38)
6:83900956 (GRCh37)
Canonical SPDI:: NC_000006.12:83191236:C:T
Gene:: PGM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000006.12:g.83191237C>T, NC_000006.11:g.83900956C>T, NG_034146.2:g.7664G>A, NM_001199917.2:c.32G>A, NM_001199917.1:c.32G>A, NM_001367287.1:c.32G>A, NP_001186846.1:p.Cys11Tyr, NP_001354216.1:p.Cys11Tyr

Select item 147801638510.

rs1478016385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83182952 (GRCh38)
6:83892671 (GRCh37)
Canonical SPDI:: NC_000006.12:83182951:G:A
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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:: NC_000006.12:g.83182952G>A, NC_000006.11:g.83892671G>A, NG_034146.2:g.15949C>T, NM_015599.3:c.484C>T, NM_015599.2:c.484C>T, NM_001199917.2:c.568C>T, NM_001199917.1:c.568C>T, NM_001199918.2:c.241C>T, NM_001199918.1:c.241C>T, NR_159812.2:n.573C>T, NR_159812.1:n.573C>T, NM_001199919.2:c.484C>T, NM_001199919.1:c.484C>T, NM_001367287.1:c.568C>T, NM_001367286.1:c.484C>T, XR_001743468.3:n.367C>T, XR_001743468.2:n.368C>T, XR_001743468.1:n.368C>T, XR_942480.3:n.367C>T, XR_942480.2:n.368C>T, XR_942480.1:n.368C>T, XM_017010935.2:c.241C>T, XM_017010935.1:c.241C>T, XM_017010937.2:c.241C>T, XM_017010937.1:c.241C>T, XR_007059273.1:n.573C>T, XR_007059272.1:n.564C>T, XR_007059270.1:n.367C>T, XM_047418877.1:c.484C>T, XR_007059271.1:n.564C>T, XM_047418876.1:c.484C>T

Select item 147196259711.

rs1471962597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:83178734 (GRCh38)
6:83888453 (GRCh37)
Canonical SPDI:: NC_000006.12:83178733:C:G
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83178734C>G, NC_000006.11:g.83888453C>G, NG_034146.2:g.20167G>C, NM_015599.3:c.968G>C, NM_015599.2:c.968G>C, NM_001199917.2:c.1052G>C, NM_001199917.1:c.1052G>C, NM_001199918.2:c.725G>C, NM_001199918.1:c.725G>C, NR_159812.2:n.1057G>C, NR_159812.1:n.1057G>C, NM_001199919.2:c.968G>C, NM_001199919.1:c.968G>C, NM_001367287.1:c.1052G>C, NM_001367286.1:c.968G>C, XR_001743468.3:n.851G>C, XR_001743468.2:n.852G>C, XR_001743468.1:n.852G>C, XR_942480.3:n.851G>C, XR_942480.2:n.852G>C, XR_942480.1:n.852G>C, XM_017010935.2:c.725G>C, XM_017010935.1:c.725G>C, XM_017010937.2:c.725G>C, XM_017010937.1:c.725G>C, XR_007059273.1:n.1057G>C, XR_007059272.1:n.1048G>C, XR_007059270.1:n.851G>C, XM_047418877.1:c.968G>C, XR_007059271.1:n.1048G>C, XM_047418876.1:c.968G>C, NP_056414.1:p.Gly323Ala, NP_001186846.1:p.Gly351Ala, NP_001186847.1:p.Gly242Ala, NP_001186848.1:p.Gly323Ala, NP_001354216.1:p.Gly351Ala, NP_001354215.1:p.Gly323Ala, XP_016866424.1:p.Gly242Ala, XP_016866426.1:p.Gly242Ala, XP_047274833.1:p.Gly323Ala, XP_047274832.1:p.Gly323Ala

Select item 147132839712.

rs1471328397 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCTT [Show Flanks]
Chromosome:: 6:83174453 (GRCh38)
6:83884173 (GRCh37)
Canonical SPDI:: NC_000006.12:83174453:TTATCTT:TTATCTTATCTT
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa
MAF:: TTATCTTATCTT=0.000071/1 (ALFA)
TTATC=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.83174456_83174460dup, NC_000006.11:g.83884175_83884179dup, NG_034146.2:g.24443_24447dup, NM_015599.3:c.1158_1162dup, NM_015599.2:c.1158_1162dup, NM_001199917.2:c.1242_1246dup, NM_001199917.1:c.1242_1246dup, NM_001199918.2:c.915_919dup, NM_001199918.1:c.915_919dup, NR_159812.2:n.1247_1251dup, NR_159812.1:n.1247_1251dup, NM_001199919.2:c.1158_1162dup, NM_001199919.1:c.1158_1162dup, NM_001367287.1:c.1242_1246dup, NM_001367286.1:c.1158_1162dup, XR_001743468.3:n.1041_1045dup, XR_001743468.2:n.1042_1046dup, XR_001743468.1:n.1042_1046dup, XR_942480.3:n.1041_1045dup, XR_942480.2:n.1042_1046dup, XR_942480.1:n.1042_1046dup, XM_017010935.2:c.915_919dup, XM_017010935.1:c.915_919dup, XM_017010937.2:c.915_919dup, XM_017010937.1:c.915_919dup, XR_007059273.1:n.1247_1251dup, XR_007059272.1:n.1238_1242dup, XR_007059270.1:n.1041_1045dup, XM_047418877.1:c.1158_1162dup, XR_007059271.1:n.1238_1242dup, XM_047418876.1:c.1158_1162dup, NP_056414.1:p.Lys388delinsArgTer, NP_001186846.1:p.Lys416delinsArgTer, NP_001186847.1:p.Lys307delinsArgTer, NP_001186848.1:p.Lys388delinsArgTer, NP_001354216.1:p.Lys416delinsArgTer, NP_001354215.1:p.Lys388delinsArgTer, XP_016866424.1:p.Lys307delinsArgTer, XP_016866426.1:p.Lys307delinsArgTer, XP_047274833.1:p.Lys388delinsArgTer, XP_047274832.1:p.Lys388delinsArgTer

Select item 147082705213.

rs1470827052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83170470 (GRCh38)
6:83880189 (GRCh37)
Canonical SPDI:: NC_000006.12:83170469:G:A
Gene:: PGM3 (Varview), DOP1A (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83170470G>A, NC_000006.11:g.83880189G>A, NG_034146.2:g.28431C>T, NM_015599.3:c.1374C>T, NM_015599.2:c.1374C>T, NM_001199917.2:c.1458C>T, NM_001199917.1:c.1458C>T, NM_001199918.2:c.1131C>T, NM_001199918.1:c.1131C>T, NR_159812.2:n.1463C>T, NR_159812.1:n.1463C>T, NM_001199919.2:c.1374C>T, NM_001199919.1:c.1374C>T, NM_001367287.1:c.1458C>T, NM_001367286.1:c.1251C>T, XM_011535619.3:c.*828G>A, XM_011535619.2:c.*828G>A, XM_017010560.3:c.*828G>A, XM_017010560.2:c.*828G>A, XM_017010560.1:c.*828G>A, XM_017010562.3:c.*828G>A, XM_017010562.2:c.*828G>A, XM_017010562.1:c.*828G>A, XR_001743468.3:n.1257C>T, XR_001743468.2:n.1258C>T, XR_001743468.1:n.1258C>T, XR_942480.3:n.1257C>T, XR_942480.2:n.1258C>T, XR_942480.1:n.1258C>T, XM_017010559.2:c.*828G>A, XM_017010559.1:c.*828G>A, XM_017010561.2:c.*828G>A, XM_017010561.1:c.*828G>A, XM_017010564.2:c.*828G>A, XM_017010564.1:c.*828G>A, XM_017010570.2:c.*828G>A, XM_017010570.1:c.*828G>A, XM_017010571.2:c.*828G>A, XM_017010571.1:c.*828G>A, XM_017010572.2:c.*828G>A, XM_017010572.1:c.*828G>A, XM_017010935.2:c.1131C>T, XM_017010935.1:c.1131C>T, XM_017010937.2:c.1008C>T, XM_017010937.1:c.1008C>T, XR_007059273.1:n.1463C>T, XR_007059272.1:n.1454C>T, XM_047418442.1:c.*1549G>A, XM_047418447.1:c.*1549G>A, XM_047418446.1:c.*1549G>A, XM_047418450.1:c.*1549G>A, XM_047418451.1:c.*1549G>A, XM_047418449.1:c.*1549G>A, XM_047418428.1:c.*828G>A, XM_047418431.1:c.*828G>A, XM_047418455.1:c.*1549G>A, NR_169791.1:n.8454G>A, XM_047418434.1:c.*828G>A, XM_047418436.1:c.*828G>A, XM_047418430.1:c.*828G>A, XM_047418440.1:c.*828G>A, XM_047418441.1:c.*828G>A, XM_047418432.1:c.*828G>A, XM_047418443.1:c.*828G>A, XM_047418433.1:c.*828G>A, XM_047418435.1:c.*828G>A, XM_047418445.1:c.*828G>A, XM_047418438.1:c.*828G>A, XM_047418448.1:c.*828G>A, XM_047418439.1:c.*828G>A, XM_047418444.1:c.*828G>A, XM_047418452.1:c.*828G>A, XM_047418453.1:c.*828G>A, XR_007059270.1:n.1257C>T, XM_047418877.1:c.1251C>T, XR_007059271.1:n.1454C>T, XM_047418876.1:c.1374C>T

Select item 146986247114.

rs1469862471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:83170463 (GRCh38)
6:83880182 (GRCh37)
Canonical SPDI:: NC_000006.12:83170462:C:G,NC_000006.12:83170462:C:T
Gene:: PGM3 (Varview), DOP1A (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83170463C>G, NC_000006.12:g.83170463C>T, NC_000006.11:g.83880182C>G, NC_000006.11:g.83880182C>T, NG_034146.2:g.28438G>C, NG_034146.2:g.28438G>A, NM_015599.3:c.1381G>C, NM_015599.3:c.1381G>A, NM_015599.2:c.1381G>C, NM_015599.2:c.1381G>A, NM_001199917.2:c.1465G>C, NM_001199917.2:c.1465G>A, NM_001199917.1:c.1465G>C, NM_001199917.1:c.1465G>A, NM_001199918.2:c.1138G>C, NM_001199918.2:c.1138G>A, NM_001199918.1:c.1138G>C, NM_001199918.1:c.1138G>A, NR_159812.2:n.1470G>C, NR_159812.2:n.1470G>A, NR_159812.1:n.1470G>C, NR_159812.1:n.1470G>A, NM_001199919.2:c.1381G>C, NM_001199919.2:c.1381G>A, NM_001199919.1:c.1381G>C, NM_001199919.1:c.1381G>A, NM_001367287.1:c.1465G>C, NM_001367287.1:c.1465G>A, NM_001367286.1:c.1258G>C, NM_001367286.1:c.1258G>A, XM_011535619.3:c.*821C>G, XM_011535619.3:c.*821C>T, XM_011535619.2:c.*821C>G, XM_011535619.2:c.*821C>T, XM_017010560.3:c.*821C>G, XM_017010560.3:c.*821C>T, XM_017010560.2:c.*821C>G, XM_017010560.2:c.*821C>T, XM_017010560.1:c.*821C>G, XM_017010560.1:c.*821C>T, XM_017010562.3:c.*821C>G, XM_017010562.3:c.*821C>T, XM_017010562.2:c.*821C>G, XM_017010562.2:c.*821C>T, XM_017010562.1:c.*821C>G, XM_017010562.1:c.*821C>T, XR_001743468.3:n.1264G>C, XR_001743468.3:n.1264G>A, XR_001743468.2:n.1265G>C, XR_001743468.2:n.1265G>A, XR_001743468.1:n.1265G>C, XR_001743468.1:n.1265G>A, XR_942480.3:n.1264G>C, XR_942480.3:n.1264G>A, XR_942480.2:n.1265G>C, XR_942480.2:n.1265G>A, XR_942480.1:n.1265G>C, XR_942480.1:n.1265G>A, XM_017010559.2:c.*821C>G, XM_017010559.2:c.*821C>T, XM_017010559.1:c.*821C>G, XM_017010559.1:c.*821C>T, XM_017010561.2:c.*821C>G, XM_017010561.2:c.*821C>T, XM_017010561.1:c.*821C>G, XM_017010561.1:c.*821C>T, XM_017010564.2:c.*821C>G, XM_017010564.2:c.*821C>T, XM_017010564.1:c.*821C>G, XM_017010564.1:c.*821C>T, XM_017010570.2:c.*821C>G, XM_017010570.2:c.*821C>T, XM_017010570.1:c.*821C>G, XM_017010570.1:c.*821C>T, XM_017010571.2:c.*821C>G, XM_017010571.2:c.*821C>T, XM_017010571.1:c.*821C>G, XM_017010571.1:c.*821C>T, XM_017010572.2:c.*821C>G, XM_017010572.2:c.*821C>T, XM_017010572.1:c.*821C>G, XM_017010572.1:c.*821C>T, XM_017010935.2:c.1138G>C, XM_017010935.2:c.1138G>A, XM_017010935.1:c.1138G>C, XM_017010935.1:c.1138G>A, XM_017010937.2:c.1015G>C, XM_017010937.2:c.1015G>A, XM_017010937.1:c.1015G>C, XM_017010937.1:c.1015G>A, XR_007059273.1:n.1470G>C, XR_007059273.1:n.1470G>A, XR_007059272.1:n.1461G>C, XR_007059272.1:n.1461G>A, XM_047418442.1:c.*1542C>G, XM_047418442.1:c.*1542C>T, XM_047418447.1:c.*1542C>G, XM_047418447.1:c.*1542C>T, XM_047418446.1:c.*1542C>G, XM_047418446.1:c.*1542C>T, XM_047418450.1:c.*1542C>G, XM_047418450.1:c.*1542C>T, XM_047418451.1:c.*1542C>G, XM_047418451.1:c.*1542C>T, XM_047418449.1:c.*1542C>G, XM_047418449.1:c.*1542C>T, XM_047418428.1:c.*821C>G, XM_047418428.1:c.*821C>T, XM_047418431.1:c.*821C>G, XM_047418431.1:c.*821C>T, XM_047418455.1:c.*1542C>G, XM_047418455.1:c.*1542C>T, NR_169791.1:n.8447C>G, NR_169791.1:n.8447C>T, XM_047418434.1:c.*821C>G, XM_047418434.1:c.*821C>T, XM_047418436.1:c.*821C>G, XM_047418436.1:c.*821C>T, XM_047418430.1:c.*821C>G, XM_047418430.1:c.*821C>T, XM_047418440.1:c.*821C>G, XM_047418440.1:c.*821C>T, XM_047418441.1:c.*821C>G, XM_047418441.1:c.*821C>T, XM_047418432.1:c.*821C>G, XM_047418432.1:c.*821C>T, XM_047418443.1:c.*821C>G, XM_047418443.1:c.*821C>T, XM_047418433.1:c.*821C>G, XM_047418433.1:c.*821C>T, XM_047418435.1:c.*821C>G, XM_047418435.1:c.*821C>T, XM_047418445.1:c.*821C>G, XM_047418445.1:c.*821C>T, XM_047418438.1:c.*821C>G, XM_047418438.1:c.*821C>T, XM_047418448.1:c.*821C>G, XM_047418448.1:c.*821C>T, XM_047418439.1:c.*821C>G, XM_047418439.1:c.*821C>T, XM_047418444.1:c.*821C>G, XM_047418444.1:c.*821C>T, XM_047418452.1:c.*821C>G, XM_047418452.1:c.*821C>T, XM_047418453.1:c.*821C>G, XM_047418453.1:c.*821C>T, XR_007059270.1:n.1264G>C, XR_007059270.1:n.1264G>A, XM_047418877.1:c.1258G>C, XM_047418877.1:c.1258G>A, XR_007059271.1:n.1461G>C, XR_007059271.1:n.1461G>A, XM_047418876.1:c.1381G>C, XM_047418876.1:c.1381G>A, NP_056414.1:p.Val461Leu, NP_056414.1:p.Val461Ile, NP_001186846.1:p.Val489Leu, NP_001186846.1:p.Val489Ile, NP_001186847.1:p.Val380Leu, NP_001186847.1:p.Val380Ile, NP_001186848.1:p.Val461Leu, NP_001186848.1:p.Val461Ile, NP_001354216.1:p.Val489Leu, NP_001354216.1:p.Val489Ile, NP_001354215.1:p.Val420Leu, NP_001354215.1:p.Val420Ile, XP_016866424.1:p.Val380Leu, XP_016866424.1:p.Val380Ile, XP_016866426.1:p.Val339Leu, XP_016866426.1:p.Val339Ile, XP_047274833.1:p.Val420Leu, XP_047274833.1:p.Val420Ile, XP_047274832.1:p.Val461Leu, XP_047274832.1:p.Val461Ile

Select item 146579301115.

rs1465793011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83190939 (GRCh38)
6:83900658 (GRCh37)
Canonical SPDI:: NC_000006.12:83190938:G:A
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_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_000006.12:g.83190939G>A, NC_000006.11:g.83900658G>A, NG_034146.2:g.7962C>T, NM_015599.3:c.74C>T, NM_015599.2:c.74C>T, NM_001199917.2:c.158C>T, NM_001199917.1:c.158C>T, NR_159812.2:n.163C>T, NR_159812.1:n.163C>T, NM_001199919.2:c.74C>T, NM_001199919.1:c.74C>T, NM_001367287.1:c.158C>T, NM_001367286.1:c.74C>T, XR_007059273.1:n.163C>T, XR_007059272.1:n.154C>T, XM_047418877.1:c.74C>T, XR_007059271.1:n.154C>T, XM_047418876.1:c.74C>T, NP_056414.1:p.Thr25Ile, NP_001186846.1:p.Thr53Ile, NP_001186848.1:p.Thr25Ile, NP_001354216.1:p.Thr53Ile, NP_001354215.1:p.Thr25Ile, XP_047274833.1:p.Thr25Ile, XP_047274832.1:p.Thr25Ile

Select item 146540880916.

rs1465408809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:83181852 (GRCh38)
6:83891571 (GRCh37)
Canonical SPDI:: NC_000006.12:83181851:A:C,NC_000006.12:83181851:A:G
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.83181852A>C, NC_000006.12:g.83181852A>G, NC_000006.11:g.83891571A>C, NC_000006.11:g.83891571A>G, NG_034146.2:g.17049T>G, NG_034146.2:g.17049T>C, NM_015599.3:c.671T>G, NM_015599.3:c.671T>C, NM_015599.2:c.671T>G, NM_015599.2:c.671T>C, NM_001199917.2:c.755T>G, NM_001199917.2:c.755T>C, NM_001199917.1:c.755T>G, NM_001199917.1:c.755T>C, NM_001199918.2:c.428T>G, NM_001199918.2:c.428T>C, NM_001199918.1:c.428T>G, NM_001199918.1:c.428T>C, NR_159812.2:n.760T>G, NR_159812.2:n.760T>C, NR_159812.1:n.760T>G, NR_159812.1:n.760T>C, NM_001199919.2:c.671T>G, NM_001199919.2:c.671T>C, NM_001199919.1:c.671T>G, NM_001199919.1:c.671T>C, NM_001367287.1:c.755T>G, NM_001367287.1:c.755T>C, NM_001367286.1:c.671T>G, NM_001367286.1:c.671T>C, XR_001743468.3:n.554T>G, XR_001743468.3:n.554T>C, XR_001743468.2:n.555T>G, XR_001743468.2:n.555T>C, XR_001743468.1:n.555T>G, XR_001743468.1:n.555T>C, XR_942480.3:n.554T>G, XR_942480.3:n.554T>C, XR_942480.2:n.555T>G, XR_942480.2:n.555T>C, XR_942480.1:n.555T>G, XR_942480.1:n.555T>C, XM_017010935.2:c.428T>G, XM_017010935.2:c.428T>C, XM_017010935.1:c.428T>G, XM_017010935.1:c.428T>C, XM_017010937.2:c.428T>G, XM_017010937.2:c.428T>C, XM_017010937.1:c.428T>G, XM_017010937.1:c.428T>C, XR_007059273.1:n.760T>G, XR_007059273.1:n.760T>C, XR_007059272.1:n.751T>G, XR_007059272.1:n.751T>C, XR_007059270.1:n.554T>G, XR_007059270.1:n.554T>C, XM_047418877.1:c.671T>G, XM_047418877.1:c.671T>C, XR_007059271.1:n.751T>G, XR_007059271.1:n.751T>C, XM_047418876.1:c.671T>G, XM_047418876.1:c.671T>C, NP_056414.1:p.Met224Arg, NP_056414.1:p.Met224Thr, NP_001186846.1:p.Met252Arg, NP_001186846.1:p.Met252Thr, NP_001186847.1:p.Met143Arg, NP_001186847.1:p.Met143Thr, NP_001186848.1:p.Met224Arg, NP_001186848.1:p.Met224Thr, NP_001354216.1:p.Met252Arg, NP_001354216.1:p.Met252Thr, NP_001354215.1:p.Met224Arg, NP_001354215.1:p.Met224Thr, XP_016866424.1:p.Met143Arg, XP_016866424.1:p.Met143Thr, XP_016866426.1:p.Met143Arg, XP_016866426.1:p.Met143Thr, XP_047274833.1:p.Met224Arg, XP_047274833.1:p.Met224Thr, XP_047274832.1:p.Met224Arg, XP_047274832.1:p.Met224Thr

Select item 146271850817.

rs1462718508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:83178727 (GRCh38)
6:83888446 (GRCh37)
Canonical SPDI:: NC_000006.12:83178726:T:A,NC_000006.12:83178726:T:C
Gene:: PGM3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000071/2 (TOMMO)
HGVS:: NC_000006.12:g.83178727T>A, NC_000006.12:g.83178727T>C, NC_000006.11:g.83888446T>A, NC_000006.11:g.83888446T>C, NG_034146.2:g.20174A>T, NG_034146.2:g.20174A>G, NM_015599.3:c.975A>T, NM_015599.3:c.975A>G, NM_015599.2:c.975A>T, NM_015599.2:c.975A>G, NM_001199917.2:c.1059A>T, NM_001199917.2:c.1059A>G, NM_001199917.1:c.1059A>T, NM_001199917.1:c.1059A>G, NM_001199918.2:c.732A>T, NM_001199918.2:c.732A>G, NM_001199918.1:c.732A>T, NM_001199918.1:c.732A>G, NR_159812.2:n.1064A>T, NR_159812.2:n.1064A>G, NR_159812.1:n.1064A>T, NR_159812.1:n.1064A>G, NM_001199919.2:c.975A>T, NM_001199919.2:c.975A>G, NM_001199919.1:c.975A>T, NM_001199919.1:c.975A>G, NM_001367287.1:c.1059A>T, NM_001367287.1:c.1059A>G, NM_001367286.1:c.975A>T, NM_001367286.1:c.975A>G, XR_001743468.3:n.858A>T, XR_001743468.3:n.858A>G, XR_001743468.2:n.859A>T, XR_001743468.2:n.859A>G, XR_001743468.1:n.859A>T, XR_001743468.1:n.859A>G, XR_942480.3:n.858A>T, XR_942480.3:n.858A>G, XR_942480.2:n.859A>T, XR_942480.2:n.859A>G, XR_942480.1:n.859A>T, XR_942480.1:n.859A>G, XM_017010935.2:c.732A>T, XM_017010935.2:c.732A>G, XM_017010935.1:c.732A>T, XM_017010935.1:c.732A>G, XM_017010937.2:c.732A>T, XM_017010937.2:c.732A>G, XM_017010937.1:c.732A>T, XM_017010937.1:c.732A>G, XR_007059273.1:n.1064A>T, XR_007059273.1:n.1064A>G, XR_007059272.1:n.1055A>T, XR_007059272.1:n.1055A>G, XR_007059270.1:n.858A>T, XR_007059270.1:n.858A>G, XM_047418877.1:c.975A>T, XM_047418877.1:c.975A>G, XR_007059271.1:n.1055A>T, XR_007059271.1:n.1055A>G, XM_047418876.1:c.975A>T, XM_047418876.1:c.975A>G

Select item 146167632318.

rs1461676323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:83174465 (GRCh38)
6:83884184 (GRCh37)
Canonical SPDI:: NC_000006.12:83174464:T:G
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83174465T>G, NC_000006.11:g.83884184T>G, NG_034146.2:g.24436A>C, NM_015599.3:c.1151A>C, NM_015599.2:c.1151A>C, NM_001199917.2:c.1235A>C, NM_001199917.1:c.1235A>C, NM_001199918.2:c.908A>C, NM_001199918.1:c.908A>C, NR_159812.2:n.1240A>C, NR_159812.1:n.1240A>C, NM_001199919.2:c.1151A>C, NM_001199919.1:c.1151A>C, NM_001367287.1:c.1235A>C, NM_001367286.1:c.1151A>C, XR_001743468.3:n.1034A>C, XR_001743468.2:n.1035A>C, XR_001743468.1:n.1035A>C, XR_942480.3:n.1034A>C, XR_942480.2:n.1035A>C, XR_942480.1:n.1035A>C, XM_017010935.2:c.908A>C, XM_017010935.1:c.908A>C, XM_017010937.2:c.908A>C, XM_017010937.1:c.908A>C, XR_007059273.1:n.1240A>C, XR_007059272.1:n.1231A>C, XR_007059270.1:n.1034A>C, XM_047418877.1:c.1151A>C, XR_007059271.1:n.1231A>C, XM_047418876.1:c.1151A>C, NP_056414.1:p.Glu384Ala, NP_001186846.1:p.Glu412Ala, NP_001186847.1:p.Glu303Ala, NP_001186848.1:p.Glu384Ala, NP_001354216.1:p.Glu412Ala, NP_001354215.1:p.Glu384Ala, XP_016866424.1:p.Glu303Ala, XP_016866426.1:p.Glu303Ala, XP_047274833.1:p.Glu384Ala, XP_047274832.1:p.Glu384Ala

Select item 145808508519.

rs1458085085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:83170320 (GRCh38)
6:83880039 (GRCh37)
Canonical SPDI:: NC_000006.12:83170319:T:C
Gene:: PGM3 (Varview), DOP1A (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,synonymous_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_000006.12:g.83170320T>C, NC_000006.11:g.83880039T>C, NG_034146.2:g.28581A>G, NM_015599.3:c.1524A>G, NM_015599.2:c.1524A>G, NM_001199917.2:c.1608A>G, NM_001199917.1:c.1608A>G, NM_001199918.2:c.1281A>G, NM_001199918.1:c.1281A>G, NR_159812.2:n.1613A>G, NR_159812.1:n.1613A>G, NM_001199919.2:c.1524A>G, NM_001199919.1:c.1524A>G, NM_001367287.1:c.1608A>G, NM_001367286.1:c.1401A>G, XM_011535619.3:c.*678T>C, XM_011535619.2:c.*678T>C, XM_017010560.3:c.*678T>C, XM_017010560.2:c.*678T>C, XM_017010560.1:c.*678T>C, XM_017010562.3:c.*678T>C, XM_017010562.2:c.*678T>C, XM_017010562.1:c.*678T>C, XR_001743468.3:n.1407A>G, XR_001743468.2:n.1408A>G, XR_001743468.1:n.1408A>G, XR_942480.3:n.1407A>G, XR_942480.2:n.1408A>G, XR_942480.1:n.1408A>G, XM_017010559.2:c.*678T>C, XM_017010559.1:c.*678T>C, XM_017010561.2:c.*678T>C, XM_017010561.1:c.*678T>C, XM_017010564.2:c.*678T>C, XM_017010564.1:c.*678T>C, XM_017010570.2:c.*678T>C, XM_017010570.1:c.*678T>C, XM_017010571.2:c.*678T>C, XM_017010571.1:c.*678T>C, XM_017010572.2:c.*678T>C, XM_017010572.1:c.*678T>C, XM_017010935.2:c.1281A>G, XM_017010935.1:c.1281A>G, XM_017010937.2:c.1158A>G, XM_017010937.1:c.1158A>G, XR_007059273.1:n.1613A>G, XR_007059272.1:n.1604A>G, XM_047418442.1:c.*1399T>C, XM_047418447.1:c.*1399T>C, XM_047418446.1:c.*1399T>C, XM_047418450.1:c.*1399T>C, XM_047418451.1:c.*1399T>C, XM_047418449.1:c.*1399T>C, XM_047418428.1:c.*678T>C, XM_047418431.1:c.*678T>C, XM_047418455.1:c.*1399T>C, NR_169791.1:n.8304T>C, XM_047418434.1:c.*678T>C, XM_047418436.1:c.*678T>C, XM_047418430.1:c.*678T>C, XM_047418440.1:c.*678T>C, XM_047418441.1:c.*678T>C, XM_047418432.1:c.*678T>C, XM_047418443.1:c.*678T>C, XM_047418433.1:c.*678T>C, XM_047418435.1:c.*678T>C, XM_047418445.1:c.*678T>C, XM_047418438.1:c.*678T>C, XM_047418448.1:c.*678T>C, XM_047418439.1:c.*678T>C, XM_047418444.1:c.*678T>C, XM_047418452.1:c.*678T>C, XM_047418453.1:c.*678T>C, XR_007059270.1:n.1407A>G, XM_047418877.1:c.1401A>G, XR_007059271.1:n.1604A>G, XM_047418876.1:c.1524A>G

Select item 145597823020.

rs1455978230 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:83178687 (GRCh38)
6:83888406 (GRCh37)
Canonical SPDI:: NC_000006.12:83178686:C:
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83178687del, NC_000006.11:g.83888406del, NG_034146.2:g.20214del, NM_015599.3:c.1015del, NM_015599.2:c.1015del, NM_001199917.2:c.1099del, NM_001199917.1:c.1099del, NM_001199918.2:c.772del, NM_001199918.1:c.772del, NR_159812.2:n.1104del, NR_159812.1:n.1104del, NM_001199919.2:c.1015del, NM_001199919.1:c.1015del, NM_001367287.1:c.1099del, NM_001367286.1:c.1015del, XR_001743468.3:n.898del, XR_001743468.2:n.899del, XR_001743468.1:n.899del, XR_942480.3:n.898del, XR_942480.2:n.899del, XR_942480.1:n.899del, XM_017010935.2:c.772del, XM_017010935.1:c.772del, XM_017010937.2:c.772del, XM_017010937.1:c.772del, XR_007059273.1:n.1104del, XR_007059272.1:n.1095del, XR_007059270.1:n.898del, XM_047418877.1:c.1015del, XR_007059271.1:n.1095del, XM_047418876.1:c.1015del, NP_056414.1:p.Glu339fs, NP_001186846.1:p.Glu367fs, NP_001186847.1:p.Glu258fs, NP_001186848.1:p.Glu339fs, NP_001354216.1:p.Glu367fs, NP_001354215.1:p.Glu339fs, XP_016866424.1:p.Glu258fs, XP_016866426.1:p.Glu258fs, XP_047274833.1:p.Glu339fs, XP_047274832.1:p.Glu339fs

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