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Select item 14914607261.

rs1491460726 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 22:50530396 (GRCh38)
22:50968825 (GRCh37)
Canonical SPDI:: NC_000022.11:50530392:CGCGC:CGC
Gene:: TYMP (Varview), ODF3B (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50530394GC[1], NC_000022.10:g.50968823GC[1], NG_011860.1:g.4690CG[1], NG_016235.1:g.1044CG[1]

Select item 14912507792.

rs1491250779 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 22:50530393 (GRCh38)
22:50968823 (GRCh37)
Canonical SPDI:: NC_000022.11:50530393::TT
Gene:: TYMP (Varview), ODF3B (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000022.11:g.50530393_50530394insTT, NC_000022.10:g.50968822_50968823insTT, NG_011860.1:g.4692_4693insAA, NG_016235.1:g.1046_1047insAA

Select item 14907583533.

rs1490758353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50531287 (GRCh38)
22:50969716 (GRCh37)
Canonical SPDI:: NC_000022.11:50531286:A:G
Gene:: TYMP (Varview), ODF3B (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50531287A>G, NC_000022.10:g.50969716A>G, NG_011860.1:g.3799T>C, NG_016235.1:g.153T>C, NM_001014440.4:c.322T>C, NM_001014440.3:c.322T>C, XM_047441378.1:c.322T>C, XM_047441379.1:c.322T>C, XM_047441382.1:c.118T>C, NM_001382808.1:c.322T>C, XM_047441380.1:c.322T>C, NM_001382807.1:c.251T>C, XM_047441381.1:c.322T>C, XM_047441383.1:c.118T>C, NM_001410791.1:c.118T>C, NP_001014440.2:p.Phe108Leu, XP_047297334.1:p.Phe108Leu, XP_047297335.1:p.Phe108Leu, XP_047297338.1:p.Phe40Leu, NP_001369737.1:p.Phe108Leu, XP_047297336.1:p.Phe108Leu, NP_001369736.1:p.Leu84Pro, XP_047297337.1:p.Phe108Leu, XP_047297339.1:p.Phe40Leu

Select item 14906254104.

rs1490625410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50530731 (GRCh38)
22:50969160 (GRCh37)
Canonical SPDI:: NC_000022.11:50530730:G:A
Gene:: TYMP (Varview), ODF3B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50530731G>A, NC_000022.10:g.50969160G>A, NG_011860.1:g.4355C>T, NG_016235.1:g.709C>T, NM_001014440.4:c.662C>T, NM_001014440.3:c.662C>T, XM_047441378.1:c.746C>T, XM_047441379.1:c.746C>T, XM_047441382.1:c.542C>T, NM_001382808.1:c.662C>T, XM_047441380.1:c.662C>T, NM_001382807.1:c.591C>T, XM_047441383.1:c.458C>T, NM_001410791.1:c.458C>T, NP_001014440.2:p.Ala221Val, XP_047297334.1:p.Ala249Val, XP_047297335.1:p.Ala249Val, XP_047297338.1:p.Ala181Val, NP_001369737.1:p.Ala221Val, XP_047297336.1:p.Ala221Val, XP_047297339.1:p.Ala153Val

Select item 14904200145.

rs1490420014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:50527613 (GRCh38)
22:50966042 (GRCh37)
Canonical SPDI:: NC_000022.11:50527612:G:A,NC_000022.11:50527612:G:T
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Clinical significance:: benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50527613G>A, NC_000022.11:g.50527613G>T, NC_000022.10:g.50966042G>A, NC_000022.10:g.50966042G>T, NG_011860.1:g.7473C>T, NG_011860.1:g.7473C>A, NM_001953.5:c.621C>T, NM_001953.5:c.621C>A, NM_001953.4:c.621C>T, NM_001953.4:c.621C>A, NM_001113756.3:c.621C>T, NM_001113756.3:c.621C>A, NM_001113756.2:c.621C>T, NM_001113756.2:c.621C>A, NM_001113755.3:c.621C>T, NM_001113755.3:c.621C>A, NM_001113755.2:c.621C>T, NM_001113755.2:c.621C>A, NM_001257988.1:c.621C>T, NM_001257988.1:c.621C>A, NM_001257989.1:c.621C>T, NM_001257989.1:c.621C>A, NG_016235.1:g.3827C>T, NG_016235.1:g.3827C>A

Select item 14900673416.

rs1490067341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50526934 (GRCh38)
22:50965363 (GRCh37)
Canonical SPDI:: NC_000022.11:50526933:G:A
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.50526934G>A, NC_000022.10:g.50965363G>A, NG_011860.1:g.8152C>T, NG_016235.1:g.4506C>T

Select item 14899283207.

rs1489928320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:50527862 (GRCh38)
22:50966291 (GRCh37)
Canonical SPDI:: NC_000022.11:50527861:G:C
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/3 (GnomAD)
HGVS:: NC_000022.11:g.50527862G>C, NC_000022.10:g.50966291G>C, NG_011860.1:g.7224C>G, NG_016235.1:g.3578C>G

Select item 14899025538.

rs1489902553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:50528681 (GRCh38)
22:50967110 (GRCh37)
Canonical SPDI:: NC_000022.11:50528680:C:G
Gene:: TYMP (Varview)
Functional Consequence:: intron_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_000022.11:g.50528681C>G, NC_000022.10:g.50967110C>G, NG_011860.1:g.6405G>C, NG_016235.1:g.2759G>C

Select item 14898715889.

rs1489871588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:50525344 (GRCh38)
22:50963773 (GRCh37)
Canonical SPDI:: NC_000022.11:50525343:C:G,NC_000022.11:50525343:C:T
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50525344C>G, NC_000022.11:g.50525344C>T, NC_000022.10:g.50963773C>G, NC_000022.10:g.50963773C>T, NG_021419.1:g.22129C>G, NG_021419.1:g.22129C>T, NG_011860.1:g.9742G>C, NG_011860.1:g.9742G>A, NG_016235.1:g.6096G>C, NG_016235.1:g.6096G>A

Select item 148965764310.

rs1489657643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50525790 (GRCh38)
22:50964219 (GRCh37)
Canonical SPDI:: NC_000022.11:50525789:C:T
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.50525790C>T, NC_000022.10:g.50964219C>T, NG_021419.1:g.22575C>T, NG_011860.1:g.9296G>A, NM_001953.5:c.1429G>A, NM_001953.4:c.1429G>A, NM_001113756.3:c.1429G>A, NM_001113756.2:c.1429G>A, NM_001113755.3:c.1429G>A, NM_001113755.2:c.1429G>A, NM_001257988.1:c.1429G>A, NM_001257989.1:c.1444G>A, NG_016235.1:g.5650G>A, NP_001944.1:p.Val477Ile, NP_001107228.1:p.Val477Ile, NP_001107227.1:p.Val477Ile, NP_001244917.1:p.Val477Ile, NP_001244918.1:p.Val482Ile

Select item 148963181911.

rs1489631819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:50531546 (GRCh38)
22:50969975 (GRCh37)
Canonical SPDI:: NC_000022.11:50531545:G:T
Gene:: TYMP (Varview), ODF3B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50531546G>T, NC_000022.10:g.50969975G>T, NG_011860.1:g.3540C>A

Select item 148943989312.

rs1489439893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:50526513 (GRCh38)
22:50964942 (GRCh37)
Canonical SPDI:: NC_000022.11:50526512:G:A,NC_000022.11:50526512:G:C
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.50526513G>A, NC_000022.11:g.50526513G>C, NC_000022.10:g.50964942G>A, NC_000022.10:g.50964942G>C, NG_021419.1:g.23298G>A, NG_021419.1:g.23298G>C, NG_011860.1:g.8573C>T, NG_011860.1:g.8573C>G, NG_016235.1:g.4927C>T, NG_016235.1:g.4927C>G

Select item 148872988113.

rs1488729881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:50526025 (GRCh38)
22:50964454 (GRCh37)
Canonical SPDI:: NC_000022.11:50526024:C:A
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.50526025C>A, NC_000022.10:g.50964454C>A, NG_021419.1:g.22810C>A, NG_011860.1:g.9061G>T, NM_001953.5:c.1276G>T, NM_001953.4:c.1276G>T, NM_001113756.3:c.1276G>T, NM_001113756.2:c.1276G>T, NM_001113755.3:c.1276G>T, NM_001113755.2:c.1276G>T, NM_001257988.1:c.1276G>T, NM_001257989.1:c.1291G>T, NG_016235.1:g.5415G>T, NM_001169110.1:c.-38G>T, NP_001944.1:p.Asp426Tyr, NP_001107228.1:p.Asp426Tyr, NP_001107227.1:p.Asp426Tyr, NP_001244917.1:p.Asp426Tyr, NP_001244918.1:p.Asp431Tyr

Select item 148832030514.

rs1488320305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50530663 (GRCh38)
22:50969092 (GRCh37)
Canonical SPDI:: NC_000022.11:50530662:C:T
Gene:: TYMP (Varview), ODF3B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000022.11:g.50530663C>T, NC_000022.10:g.50969092C>T, NG_011860.1:g.4423G>A, NG_016235.1:g.777G>A, XM_047441378.1:c.814G>A, XM_047441379.1:c.814G>A, XM_047441382.1:c.610G>A, XP_047297334.1:p.Ala272Thr, XP_047297335.1:p.Ala272Thr, XP_047297338.1:p.Ala204Thr

Select item 148813486815.

rs1488134868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50525970 (GRCh38)
22:50964399 (GRCh37)
Canonical SPDI:: NC_000022.11:50525969:G:A
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.00005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50525970G>A, NC_000022.10:g.50964399G>A, NG_021419.1:g.22755G>A, NG_011860.1:g.9116C>T, NG_016235.1:g.5470C>T

Select item 148808739816.

rs1488087398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:50530397 (GRCh38)
22:50968826 (GRCh37)
Canonical SPDI:: NC_000022.11:50530396:C:G
Gene:: TYMP (Varview), ODF3B (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_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_000022.11:g.50530397C>G, NC_000022.10:g.50968826C>G, NG_011860.1:g.4689G>C, NG_016235.1:g.1043G>C

Select item 148806840917.

rs1488068409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:50526443 (GRCh38)
22:50964872 (GRCh37)
Canonical SPDI:: NC_000022.11:50526442:C:A
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000022.11:g.50526443C>A, NC_000022.10:g.50964872C>A, NG_021419.1:g.23228C>A, NG_011860.1:g.8643G>T, NM_001953.5:c.962G>T, NM_001953.4:c.962G>T, NM_001113756.3:c.962G>T, NM_001113756.2:c.962G>T, NM_001113755.3:c.962G>T, NM_001113755.2:c.962G>T, NM_001257988.1:c.962G>T, NM_001257989.1:c.962G>T, NG_016235.1:g.4997G>T, NP_001944.1:p.Gly321Val, NP_001107228.1:p.Gly321Val, NP_001107227.1:p.Gly321Val, NP_001244917.1:p.Gly321Val, NP_001244918.1:p.Gly321Val

Select item 148802637518.

rs1488026375 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:50526565 (GRCh38)
22:50964995 (GRCh37)
Canonical SPDI:: NC_000022.11:50526565:T:TT
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000018/3 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50526566dup, NC_000022.10:g.50964995dup, NG_021419.1:g.23351dup, NG_011860.1:g.8520dup, NG_016235.1:g.4874dup

Select item 148780855219.

rs1487808552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50527684 (GRCh38)
22:50966113 (GRCh37)
Canonical SPDI:: NC_000022.11:50527683:T:C
Gene:: TYMP (Varview), SCO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_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_000022.11:g.50527684T>C, NC_000022.10:g.50966113T>C, NG_011860.1:g.7402A>G, NM_001953.5:c.550A>G, NM_001953.4:c.550A>G, NM_001113756.3:c.550A>G, NM_001113756.2:c.550A>G, NM_001113755.3:c.550A>G, NM_001113755.2:c.550A>G, NM_001257988.1:c.550A>G, NM_001257989.1:c.550A>G, NG_016235.1:g.3756A>G, NP_001944.1:p.Ile184Val, NP_001107228.1:p.Ile184Val, NP_001107227.1:p.Ile184Val, NP_001244917.1:p.Ile184Val, NP_001244918.1:p.Ile184Val

Select item 148780792420.

rs1487807924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50529232 (GRCh38)
22:50967661 (GRCh37)
Canonical SPDI:: NC_000022.11:50529231:G:A
Gene:: TYMP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50529232G>A, NC_000022.10:g.50967661G>A, NG_011860.1:g.5854C>T, NM_001953.5:c.321C>T, NM_001953.4:c.321C>T, NM_001113756.3:c.321C>T, NM_001113756.2:c.321C>T, NM_001113755.3:c.321C>T, NM_001113755.2:c.321C>T, NM_001257988.1:c.321C>T, NM_001257989.1:c.321C>T, NG_016235.1:g.2208C>T

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