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LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 457-461 OrganismTaxon denotes iris NCBItxid:444649|NCBItxid:26378
T3 1051-1055 OrganismTaxon denotes iris NCBItxid:444649|NCBItxid:26378
T5 1807-1811 OrganismTaxon denotes iris NCBItxid:444649|NCBItxid:26378

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-97 Sentence denotes Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.
T2 98-106 Sentence denotes PURPOSE:
T3 107-230 Sentence denotes Aniridia (AN) is a rare congenital panocular disorder caused by the mutations of the paired box homeotic gene 6(PAX6) gene.
T4 231-326 Sentence denotes The PAX6gene is also involved in other anterior segment malformations including Peters anomaly.
T5 327-509 Sentence denotes We studied the PAX6gene mutations in a cohort of affected individuals with different clinical phenotype including AN, coloboma of iris and choroid, or anterior segment malformations.
T6 510-531 Sentence denotes PATIENTS AND METHODS:
T7 532-605 Sentence denotes Six unrelated families and 10 sporadic patients were examined clinically.
T8 606-711 Sentence denotes After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants.
T9 712-826 Sentence denotes Mutation screening of all exons of the PAX6gene was performed by direct sequencing of PCR-amplified DNA fragments.
T10 827-923 Sentence denotes Multiplex ligation-dependent probe amplification (MLPA) was performed to detect large deletions.
T11 924-932 Sentence denotes RESULTS:
T12 933-1134 Sentence denotes By clinical examination, the patients and the pedigrees were divided into the following three groups: AN, coloboma of iris and choroids, and the anterior segment malformations including peters anomaly.
T13 1135-1318 Sentence denotes Sequencing of the PAX6gene, three intragenic mutations including a novel heterozygous splicing-site mutations c.357-3C>G (p.Ser119fsX) were identified in the patients of the AN group.
T14 1319-1420 Sentence denotes A novel missense mutation c.643T>C (p.S216P) was detected in the anterior segment malformation group.
T15 1421-1566 Sentence denotes The mutation p.S216P located in the homeodomain region of the PAX6 caused the phenotype of Peters anomaly in family A6 with different expressing.
T16 1567-1714 Sentence denotes Through MLPA analysis, a large deletion including the whole PAX6gene and DKFZ p686k1684gene was detected in one sporadic patient from the AN group.
T17 1715-1824 Sentence denotes Neither intragenic mutation nor large deletion was identified in the group with coloboma of iris and choroid.
T18 1825-1836 Sentence denotes CONCLUSION:
T19 1837-2046 Sentence denotes Our findings further confirmed that different kind of mutations might cause different ocular phenotype, and clearly clinical phenotype classification might increase the mutation detection rate of the PAX6gene.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
8896 27-31 GeneOrGeneProduct denotes PAX6 NCBIGene:5080
8897 88-96 OrganismTaxon denotes patients NCBITaxon:9606
8898 107-115 DiseaseOrPhenotypicFeature denotes Aniridia MESH:D015783
8899 117-119 DiseaseOrPhenotypicFeature denotes AN MESH:D015783
8900 131-160 DiseaseOrPhenotypicFeature denotes congenital panocular disorder MESH:D000013
8901 192-218 GeneOrGeneProduct denotes paired box homeotic gene 6 NCBIGene:5080
8902 219-223 GeneOrGeneProduct denotes PAX6 NCBIGene:5080
8903 235-239 GeneOrGeneProduct denotes PAX6 NCBIGene:5080
8904 270-300 DiseaseOrPhenotypicFeature denotes anterior segment malformations MESH:C537775
8905 311-325 DiseaseOrPhenotypicFeature denotes Peters anomaly MESH:C537884
8906 342-346 GeneOrGeneProduct denotes PAX6 NCBIGene:5080
8907 441-443 DiseaseOrPhenotypicFeature denotes AN MESH:D015783
8908 445-473 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroid MESH:D003103
8909 478-508 DiseaseOrPhenotypicFeature denotes anterior segment malformations MESH:C537775
8910 510-518 OrganismTaxon denotes PATIENTS NCBITaxon:9606
8911 571-579 OrganismTaxon denotes patients NCBITaxon:9606
8912 751-755 GeneOrGeneProduct denotes PAX6 NCBIGene:5080
8913 962-970 OrganismTaxon denotes patients NCBITaxon:9606
8914 1035-1037 DiseaseOrPhenotypicFeature denotes AN MESH:D015783
8915 1039-1068 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroids MESH:D003103
8916 1078-1108 DiseaseOrPhenotypicFeature denotes anterior segment malformations MESH:C537775
8917 1119-1133 DiseaseOrPhenotypicFeature denotes peters anomaly MESH:C537884
8918 1153-1157 GeneOrGeneProduct denotes PAX6 NCBIGene:5080
8919 1245-1255 SequenceVariant denotes c.357-3C>G c|SUB|C|357-3|G
8920 1257-1268 SequenceVariant denotes p.Ser119fsX p|FS|S|119||
8921 1293-1301 OrganismTaxon denotes patients NCBITaxon:9606
8922 1309-1311 DiseaseOrPhenotypicFeature denotes AN MESH:D015783
8923 1345-1353 SequenceVariant denotes c.643T>C c|SUB|T|643|C
8924 1355-1362 SequenceVariant denotes p.S216P p|SUB|S|216|P
8925 1384-1413 DiseaseOrPhenotypicFeature denotes anterior segment malformation MESH:C537775
8926 1434-1441 SequenceVariant denotes p.S216P p|SUB|S|216|P
8927 1483-1487 GeneOrGeneProduct denotes PAX6 NCBIGene:5080
8928 1512-1526 DiseaseOrPhenotypicFeature denotes Peters anomaly MESH:C537884
8929 1627-1631 GeneOrGeneProduct denotes PAX6 NCBIGene:5080
8930 1640-1654 GeneOrGeneProduct denotes DKFZ p686k1684
8931 1688-1695 OrganismTaxon denotes patient NCBITaxon:9606
8932 1705-1707 DiseaseOrPhenotypicFeature denotes AN MESH:D015783
8933 1795-1823 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroid MESH:D003103
8934 2037-2041 GeneOrGeneProduct denotes PAX6 NCBIGene:5080

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 107-115 DiseaseOrPhenotypicFeature denotes Aniridia 0019172
T2 126-130 DiseaseOrPhenotypicFeature denotes rare 0021136
T3 131-141 DiseaseOrPhenotypicFeature denotes congenital 0021140
T4 311-325 DiseaseOrPhenotypicFeature denotes Peters anomaly 0011414
T5 445-461 DiseaseOrPhenotypicFeature denotes coloboma of iris 0020356
T6 445-453 DiseaseOrPhenotypicFeature denotes coloboma 0001476
T7 466-473 DiseaseOrPhenotypicFeature denotes choroid 0001280
T8 1039-1055 DiseaseOrPhenotypicFeature denotes coloboma of iris 0020356
T9 1039-1047 DiseaseOrPhenotypicFeature denotes coloboma 0001476
T10 1060-1068 DiseaseOrPhenotypicFeature denotes choroids 0001280
T11 1119-1133 DiseaseOrPhenotypicFeature denotes peters anomaly 0011414
T12 1512-1526 DiseaseOrPhenotypicFeature denotes Peters anomaly 0011414
T13 1795-1811 DiseaseOrPhenotypicFeature denotes coloboma of iris 0020356
T14 1795-1803 DiseaseOrPhenotypicFeature denotes coloboma 0001476
T15 1816-1823 DiseaseOrPhenotypicFeature denotes choroid 0001280

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1245-1255 SequenceVariant denotes c.357-3C>G
T2 1257-1268 SequenceVariant denotes p.Ser119fsX
T3 1345-1353 SequenceVariant denotes c.643T>C
T4 1355-1362 SequenceVariant denotes p.S216P
T5 1434-1441 SequenceVariant denotes p.S216P

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 4-9 GeneOrGeneProduct denotes novel
T2 10-19 GeneOrGeneProduct denotes mutations
T3 27-31 GeneOrGeneProduct denotes PAX6
T4 65-69 GeneOrGeneProduct denotes in a
T5 126-130 GeneOrGeneProduct denotes rare
T6 175-184 GeneOrGeneProduct denotes mutations
T7 192-218 GeneOrGeneProduct denotes paired box homeotic gene 6
T8 219-223 GeneOrGeneProduct denotes PAX6
T9 264-269 GeneOrGeneProduct denotes other
T10 287-300 GeneOrGeneProduct denotes malformations
T11 351-360 GeneOrGeneProduct denotes mutations
T12 457-461 GeneOrGeneProduct denotes iris
T13 495-508 GeneOrGeneProduct denotes malformations
T14 519-530 GeneOrGeneProduct denotes AND METHODS
T15 694-697 GeneOrGeneProduct denotes all
T16 712-720 GeneOrGeneProduct denotes Mutation
T17 734-737 GeneOrGeneProduct denotes all
T18 877-881 GeneOrGeneProduct denotes MLPA
T19 907-912 GeneOrGeneProduct denotes large
T20 1051-1055 GeneOrGeneProduct denotes iris
T21 1095-1108 GeneOrGeneProduct denotes malformations
T22 1180-1189 GeneOrGeneProduct denotes mutations
T23 1202-1207 GeneOrGeneProduct denotes novel
T24 1221-1229 GeneOrGeneProduct denotes splicing
T25 1235-1244 GeneOrGeneProduct denotes mutations
T26 1321-1326 GeneOrGeneProduct denotes novel
T27 1327-1335 GeneOrGeneProduct denotes missense
T28 1336-1344 GeneOrGeneProduct denotes mutation
T29 1401-1413 GeneOrGeneProduct denotes malformation
T30 1425-1433 GeneOrGeneProduct denotes mutation
T31 1457-1468 GeneOrGeneProduct denotes homeodomain
T32 1483-1487 GeneOrGeneProduct denotes PAX6
T33 1575-1579 GeneOrGeneProduct denotes MLPA
T34 1592-1597 GeneOrGeneProduct denotes large
T35 1734-1742 GeneOrGeneProduct denotes mutation
T36 1747-1752 GeneOrGeneProduct denotes large
T37 1807-1811 GeneOrGeneProduct denotes iris
T38 1841-1849 GeneOrGeneProduct denotes findings
T39 1883-1887 GeneOrGeneProduct denotes kind
T40 1888-1900 GeneOrGeneProduct denotes of mutations
T41 2006-2014 GeneOrGeneProduct denotes mutation

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 4-9 GeneOrGeneProduct denotes novel
T2 27-31 GeneOrGeneProduct denotes PAX6
T3 126-130 GeneOrGeneProduct denotes rare
T4 192-218 GeneOrGeneProduct denotes paired box homeotic gene 6
T5 219-223 GeneOrGeneProduct denotes PAX6
T6 264-269 GeneOrGeneProduct denotes other
T7 457-461 GeneOrGeneProduct denotes iris
T8 907-912 GeneOrGeneProduct denotes large
T9 1051-1055 GeneOrGeneProduct denotes iris
T10 1202-1207 GeneOrGeneProduct denotes novel
T11 1321-1326 GeneOrGeneProduct denotes novel
T12 1457-1468 GeneOrGeneProduct denotes homeodomain
T13 1483-1487 GeneOrGeneProduct denotes PAX6
T14 1592-1597 GeneOrGeneProduct denotes large
T15 1747-1752 GeneOrGeneProduct denotes large
T16 1807-1811 GeneOrGeneProduct denotes iris

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 107-115 DiseaseOrPhenotypicFeature denotes Aniridia D015783
T2 311-325 DiseaseOrPhenotypicFeature denotes Peters anomaly C537884
T3 445-453 DiseaseOrPhenotypicFeature denotes coloboma D003103
T4 1039-1047 DiseaseOrPhenotypicFeature denotes coloboma D003103
T5 1060-1068 DiseaseOrPhenotypicFeature denotes choroids D002833
T6 1119-1133 DiseaseOrPhenotypicFeature denotes peters anomaly C537884
T7 1512-1526 DiseaseOrPhenotypicFeature denotes Peters anomaly C537884
T8 1795-1803 DiseaseOrPhenotypicFeature denotes coloboma D003103

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 27-31 GeneOrGeneProduct denotes PAX6
T2 192-218 GeneOrGeneProduct denotes paired box homeotic gene 6
T3 219-223 GeneOrGeneProduct denotes PAX6
T4 1457-1468 GeneOrGeneProduct denotes homeodomain
T5 1483-1487 GeneOrGeneProduct denotes PAX6

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 107-115 DiseaseOrPhenotypicFeature denotes Aniridia 0019172
T2 117-119 DiseaseOrPhenotypicFeature denotes AN 0011727|0019172
T4 311-325 DiseaseOrPhenotypicFeature denotes Peters anomaly 0011414
T5 441-443 DiseaseOrPhenotypicFeature denotes AN 0011727|0019172
T7 445-461 DiseaseOrPhenotypicFeature denotes coloboma of iris 0020356
T8 1035-1037 DiseaseOrPhenotypicFeature denotes AN 0011727|0019172
T10 1039-1055 DiseaseOrPhenotypicFeature denotes coloboma of iris 0020356
T11 1119-1133 DiseaseOrPhenotypicFeature denotes peters anomaly 0011414
T12 1309-1311 DiseaseOrPhenotypicFeature denotes AN 0011727|0019172
T14 1512-1526 DiseaseOrPhenotypicFeature denotes Peters anomaly 0011414
T15 1705-1707 DiseaseOrPhenotypicFeature denotes AN 0011727|0019172
T17 1795-1811 DiseaseOrPhenotypicFeature denotes coloboma of iris 0020356

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 107-115 DiseaseOrPhenotypicFeature denotes Aniridia D015783
T2 131-160 DiseaseOrPhenotypicFeature denotes congenital panocular disorder DISEASE
T3 270-300 DiseaseOrPhenotypicFeature denotes anterior segment malformations DISEASE
T4 311-325 DiseaseOrPhenotypicFeature denotes Peters anomaly C537884
T5 445-473 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroid DISEASE
T6 478-508 DiseaseOrPhenotypicFeature denotes anterior segment malformations DISEASE
T7 1039-1068 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroids DISEASE
T8 1078-1108 DiseaseOrPhenotypicFeature denotes anterior segment malformations DISEASE
T9 1119-1133 DiseaseOrPhenotypicFeature denotes peters anomaly C537884
T10 1384-1413 DiseaseOrPhenotypicFeature denotes anterior segment malformation DISEASE
T11 1512-1526 DiseaseOrPhenotypicFeature denotes Peters anomaly C537884
T12 1795-1823 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroid DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 107-115 DiseaseOrPhenotypicFeature denotes Aniridia D015783
T2 117-119 DiseaseOrPhenotypicFeature denotes AN DISEASE|D015783
T4 131-160 DiseaseOrPhenotypicFeature denotes congenital panocular disorder DISEASE
T5 270-300 DiseaseOrPhenotypicFeature denotes anterior segment malformations DISEASE
T6 311-325 DiseaseOrPhenotypicFeature denotes Peters anomaly C537884
T7 441-443 DiseaseOrPhenotypicFeature denotes AN DISEASE|D015783
T9 445-473 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroid DISEASE
T10 478-508 DiseaseOrPhenotypicFeature denotes anterior segment malformations DISEASE
T11 1035-1037 DiseaseOrPhenotypicFeature denotes AN DISEASE|D015783
T13 1039-1068 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroids DISEASE
T14 1078-1108 DiseaseOrPhenotypicFeature denotes anterior segment malformations DISEASE
T15 1119-1133 DiseaseOrPhenotypicFeature denotes peters anomaly C537884
T16 1309-1311 DiseaseOrPhenotypicFeature denotes AN DISEASE|D015783
T18 1384-1413 DiseaseOrPhenotypicFeature denotes anterior segment malformation DISEASE
T19 1512-1526 DiseaseOrPhenotypicFeature denotes Peters anomaly C537884
T20 1705-1707 DiseaseOrPhenotypicFeature denotes AN DISEASE|D015783
T22 1795-1823 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroid DISEASE

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 88-96 OrganismTaxon denotes patients
T2 457-461 OrganismTaxon denotes iris
T3 571-579 OrganismTaxon denotes patients
T4 962-970 OrganismTaxon denotes patients
T5 1051-1055 OrganismTaxon denotes iris
T6 1293-1301 OrganismTaxon denotes patients
T7 1688-1695 OrganismTaxon denotes patient
T8 1807-1811 OrganismTaxon denotes iris

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T5 1483-1487 GeneOrGeneProduct denotes PAX6
T4 1457-1468 GeneOrGeneProduct denotes homeodomain
T3 219-223 GeneOrGeneProduct denotes PAX6
T2 192-218 GeneOrGeneProduct denotes paired box homeotic gene 6
T1 27-31 GeneOrGeneProduct denotes PAX6
T22 1795-1823 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroid DISEASE
T20 1705-1707 DiseaseOrPhenotypicFeature denotes AN D015783|DISEASE
T19 1512-1526 DiseaseOrPhenotypicFeature denotes Peters anomaly C537884
T18 1384-1413 DiseaseOrPhenotypicFeature denotes anterior segment malformation DISEASE
T16 1309-1311 DiseaseOrPhenotypicFeature denotes AN D015783|DISEASE
T15 1119-1133 DiseaseOrPhenotypicFeature denotes peters anomaly C537884
T14 1078-1108 DiseaseOrPhenotypicFeature denotes anterior segment malformations DISEASE
T13 1039-1068 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroids DISEASE
T11 1035-1037 DiseaseOrPhenotypicFeature denotes AN D015783|DISEASE
T10 478-508 DiseaseOrPhenotypicFeature denotes anterior segment malformations DISEASE
T9 445-473 DiseaseOrPhenotypicFeature denotes coloboma of iris and choroid DISEASE
T7 441-443 DiseaseOrPhenotypicFeature denotes AN D015783|DISEASE
T6 311-325 DiseaseOrPhenotypicFeature denotes Peters anomaly C537884
T36673 270-300 DiseaseOrPhenotypicFeature denotes anterior segment malformations DISEASE
T81980 131-160 DiseaseOrPhenotypicFeature denotes congenital panocular disorder DISEASE
T92192 117-119 DiseaseOrPhenotypicFeature denotes AN D015783|DISEASE
T88060 107-115 DiseaseOrPhenotypicFeature denotes Aniridia D015783
T8 1807-1811 OrganismTaxon denotes iris
T91100 1688-1695 OrganismTaxon denotes patient
T79713 1293-1301 OrganismTaxon denotes patients
T29278 1051-1055 OrganismTaxon denotes iris
T96730 962-970 OrganismTaxon denotes patients
T73635 571-579 OrganismTaxon denotes patients
T28306 457-461 OrganismTaxon denotes iris
T35146 88-96 OrganismTaxon denotes patients
T91550 1434-1441 SequenceVariant denotes p.S216P
T87762 1355-1362 SequenceVariant denotes p.S216P
T64673 1345-1353 SequenceVariant denotes c.643T>C
T18181 1257-1268 SequenceVariant denotes p.Ser119fsX
T30775 1245-1255 SequenceVariant denotes c.357-3C>G

DisGeNET

Id Subject Object Predicate Lexical cue
T0 192-218 gene:5080 denotes paired box homeotic gene 6
T1 107-115 disease:C0003076 denotes Aniridia
T2 192-218 gene:5080 denotes paired box homeotic gene 6
T3 117-119 disease:C0003076 denotes AN
T4 219-223 gene:5080 denotes PAX6
T5 107-115 disease:C0003076 denotes Aniridia
T6 219-223 gene:5080 denotes PAX6
T7 117-119 disease:C0003076 denotes AN
R1 T0 T1 associated_with paired box homeotic gene 6,Aniridia
R2 T2 T3 associated_with paired box homeotic gene 6,AN
R3 T4 T5 associated_with PAX6,Aniridia
R4 T6 T7 associated_with PAX6,AN

Allie

Id Subject Object Predicate Lexical cue
SS1_21904390_2_0 192-218 expanded denotes paired box homeotic gene 6
SS2_21904390_2_0 219-223 abbr denotes PAX6
SS1_21904390_2_1 107-115 expanded denotes Aniridia
SS2_21904390_2_1 117-119 abbr denotes AN
SS1_21904390_9_0 827-875 expanded denotes Multiplex ligation-dependent probe amplification
SS2_21904390_9_0 877-881 abbr denotes MLPA
AE1_21904390_2_0 SS1_21904390_2_0 SS2_21904390_2_0 abbreviatedTo paired box homeotic gene 6,PAX6
AE1_21904390_2_1 SS1_21904390_2_1 SS2_21904390_2_1 abbreviatedTo Aniridia,AN
AE1_21904390_9_0 SS1_21904390_9_0 SS2_21904390_9_0 abbreviatedTo Multiplex ligation-dependent probe amplification,MLPA

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 107-115 HP_0000526 denotes Aniridia
T2 311-325 HP_0000659 denotes Peters anomaly
T3 445-453 HP_0000589 denotes coloboma
T4 445-461 HP_0000612 denotes coloboma of iris

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
21904390-1#85#111#gene5080 192-218 gene5080 denotes paired box homeotic gene 6
21904390-1#112#116#gene5080 219-223 gene5080 denotes PAX6
21904390-1#0#8#diseaseC0003076 107-115 diseaseC0003076 denotes Aniridia
21904390-1#10#12#diseaseC0003076 117-119 diseaseC0003076 denotes AN
21904390-11#62#66#gene5080 1483-1487 gene5080 denotes PAX6
21904390-11#91#105#diseaseC0344559 1512-1526 diseaseC0344559 denotes Peters anomaly
85#111#gene50800#8#diseaseC0003076 21904390-1#85#111#gene5080 21904390-1#0#8#diseaseC0003076 associated_with paired box homeotic gene 6,Aniridia
85#111#gene508010#12#diseaseC0003076 21904390-1#85#111#gene5080 21904390-1#10#12#diseaseC0003076 associated_with paired box homeotic gene 6,AN
112#116#gene50800#8#diseaseC0003076 21904390-1#112#116#gene5080 21904390-1#0#8#diseaseC0003076 associated_with PAX6,Aniridia
112#116#gene508010#12#diseaseC0003076 21904390-1#112#116#gene5080 21904390-1#10#12#diseaseC0003076 associated_with PAX6,AN
62#66#gene508091#105#diseaseC0344559 21904390-11#62#66#gene5080 21904390-11#91#105#diseaseC0344559 associated_with PAX6,Peters anomaly

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1245-1255 DNAMutation:c|SUB|C|357-3|G denotes c.357-3C>G
T2 1257-1268 ProteinMutation:p|FS|S|119|| denotes p.Ser119fsX
T3 1345-1353 DNAMutation:c|SUB|T|643|C denotes c.643T>C
T4 1355-1362 ProteinMutation:p|SUB|S|216|P denotes p.S216P
T5 1434-1441 ProteinMutation:p|SUB|S|216|P denotes p.S216P