| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 45742 | single nucleotide variant | NM_015426.4(POC1A):c.241C>T (p.Arg81Ter) | 397514487 | MedGen:CN228289;MedGen:C3542022,OMIM:614813,Orphanet:ORPHA314394 | 3 | 52183866 | 52183866 | G | A |
| 45742 | single nucleotide variant | NM_015426.4(POC1A):c.241C>T (p.Arg81Ter) | 397514487 | MedGen:CN228289;MedGen:C3542022,OMIM:614813,Orphanet:ORPHA314394 | 3 | 52149850 | 52149850 | G | A |
| 45743 | single nucleotide variant | NM_001161581.1(POC1A):c.398T>C (p.Leu133Pro) | 397514488 | MedGen:C3542022,OMIM:614813,Orphanet:ORPHA314394 | 3 | 52181055 | 52181055 | A | G |
| 45743 | single nucleotide variant | NM_001161581.1(POC1A):c.398T>C (p.Leu133Pro) | 397514488 | MedGen:C3542022,OMIM:614813,Orphanet:ORPHA314394 | 3 | 52147039 | 52147039 | A | G |
| 135430 | single nucleotide variant | NM_015426.4(POC1A):c.1044G>T (p.Gln348His) | 35898691 | MedGen:CN169374 | 3 | 52096650 | 52096650 | C | A |
| 135430 | single nucleotide variant | NM_015426.4(POC1A):c.1044G>T (p.Gln348His) | 35898691 | MedGen:CN169374 | 3 | 52130666 | 52130666 | C | A |
| 135431 | single nucleotide variant | NM_015426.4(POC1A):c.149C>T (p.Pro50Leu) | 11546882 | MedGen:CN169374 | 3 | 52149942 | 52149942 | G | A |
| 135431 | single nucleotide variant | NM_015426.4(POC1A):c.149C>T (p.Pro50Leu) | 11546882 | MedGen:CN169374 | 3 | 52183958 | 52183958 | G | A |
| 135432 | single nucleotide variant | NM_015426.4(POC1A):c.18+10G>A | 114209632 | MedGen:CN169374 | 3 | 52154345 | 52154345 | C | T |
| 135432 | single nucleotide variant | NM_015426.4(POC1A):c.18+10G>A | 114209632 | MedGen:CN169374 | 3 | 52188361 | 52188361 | C | T |
| 135433 | single nucleotide variant | NM_015426.4(POC1A):c.915T>G (p.Val305=) | 115238307 | MedGen:CN169374 | 3 | 52122445 | 52122445 | A | C |
| 135433 | single nucleotide variant | NM_015426.4(POC1A):c.915T>G (p.Val305=) | 115238307 | MedGen:CN169374 | 3 | 52156461 | 52156461 | A | C |
| 207080 | single nucleotide variant | NM_015426.4(POC1A):c.784C>T (p.Arg262Trp) | 146976547 | MedGen:CN169374 | 3 | 52172214 | 52172214 | G | A |
| 207080 | single nucleotide variant | NM_015426.4(POC1A):c.784C>T (p.Arg262Trp) | 146976547 | MedGen:CN169374 | 3 | 52138198 | 52138198 | G | A |
| 207081 | single nucleotide variant | NM_015426.4(POC1A):c.159C>T (p.Arg53=) | 377711159 | MedGen:CN169374 | 3 | 52149932 | 52149932 | G | A |
| 207081 | single nucleotide variant | NM_015426.4(POC1A):c.159C>T (p.Arg53=) | 377711159 | MedGen:CN169374 | 3 | 52183948 | 52183948 | G | A |
| 271434 | single nucleotide variant | NM_001161581.1(POC1A):c.121G>A (p.Gly41Ser) | 35249554 | MedGen:CN169374 | 3 | 52183872 | 52183872 | C | T |
| 271434 | single nucleotide variant | NM_001161581.1(POC1A):c.121G>A (p.Gly41Ser) | 35249554 | MedGen:CN169374 | 3 | 52149856 | 52149856 | C | T |