| 15196618 | CV731259 | single nucleotide variant | NM_024578.3(OCEL1):c.247-1G>A | not provided [RCV000889823] | benign | 19 | 17226993 | 17226993 | Human | | name |
| 15201830 | CV778617 | single nucleotide variant | NM_024578.3(OCEL1):c.247-1G>C | not provided [RCV000957740] | benign | 19 | 17226993 | 17226993 | Human | | name |
| 407527141 | CV3469608 | single nucleotide variant | NM_024578.3(OCEL1):c.11C>G (p.Pro4Arg) | not specified [RCV004655062] | likely benign | 19 | 17226258 | 17226258 | Human | | name |
| 15120174 | CV716275 | single nucleotide variant | NM_024578.3(OCEL1):c.10C>A (p.Pro4Thr) | not provided [RCV000962678] | benign | 19 | 17226257 | 17226257 | Human | | name |
| 15151896 | CV741692 | single nucleotide variant | NM_024578.3(OCEL1):c.231T>A (p.Pro77=) | not provided [RCV000901454] | benign | 19 | 17226854 | 17226854 | Human | | name |
| 156086288 | CV2340635 | single nucleotide variant | NM_024578.3(OCEL1):c.73G>T (p.Ala25Ser) | not specified [RCV004190309] | uncertain significance | 19 | 17226696 | 17226696 | Human | | name |
| 401889880 | CV2755075 | single nucleotide variant | NM_024578.3(OCEL1):c.53T>G (p.Leu18Arg) | not specified [RCV004335228] | uncertain significance | 19 | 17226300 | 17226300 | Human | | name |
| 405733800 | CV3373705 | single nucleotide variant | NM_024578.3(OCEL1):c.47C>T (p.Ser16Leu) | not specified [RCV004496741] | uncertain significance | 19 | 17226294 | 17226294 | Human | | name |
| 597732760 | CV3577429 | single nucleotide variant | NM_024578.3(OCEL1):c.47C>G (p.Ser16Trp) | not specified [RCV004843113] | uncertain significance | 19 | 17226294 | 17226294 | Human | | name |
| 597732802 | CV3577433 | single nucleotide variant | NM_024578.3(OCEL1):c.34G>A (p.Ala12Thr) | not specified [RCV004843117] | uncertain significance | 19 | 17226281 | 17226281 | Human | | name |
| 598160641 | CV3998265 | single nucleotide variant | NM_024578.3(OCEL1):c.89C>T (p.Pro30Leu) | not specified [RCV005390444] | uncertain significance | 19 | 17226712 | 17226712 | Human | | name |
| 15110843 | CV728015 | single nucleotide variant | NM_024578.3(OCEL1):c.606A>C (p.Pro202=) | not provided [RCV000894149] | benign | 19 | 17227993 | 17227993 | Human | | name |
| 15152950 | CV728016 | single nucleotide variant | NM_024578.3(OCEL1):c.624G>A (p.Glu208=) | not provided [RCV000879912] | benign | 19 | 17228261 | 17228261 | Human | | name |
| 15173038 | CV741693 | single nucleotide variant | NM_024578.3(OCEL1):c.729G>A (p.Arg243=) | not provided [RCV000905787] | likely benign | 19 | 17228859 | 17228859 | Human | | name |
| 156298389 | CV2329209 | single nucleotide variant | NM_024578.3(OCEL1):c.145C>A (p.Leu49Met) | not specified [RCV004173957] | uncertain significance | 19 | 17226768 | 17226768 | Human | | name |
| 155966754 | CV2329836 | single nucleotide variant | NM_024578.3(OCEL1):c.196C>T (p.Arg66Cys) | not specified [RCV004183297] | uncertain significance | 19 | 17226819 | 17226819 | Human | | name |
| 155996387 | CV2398531 | single nucleotide variant | NM_024578.3(OCEL1):c.253G>A (p.Gly85Arg) | not specified [RCV004237850] | likely benign | 19 | 17227000 | 17227000 | Human | | name |
| 329401847 | CV2457937 | single nucleotide variant | NM_024578.3(OCEL1):c.290G>T (p.Arg97Leu) | not specified [RCV004271521] | uncertain significance | 19 | 17227037 | 17227037 | Human | | name |
| 401743653 | CV2684753 | single nucleotide variant | NM_024578.3(OCEL1):c.202T>G (p.Ser68Ala) | not specified [RCV004293838] | uncertain significance | 19 | 17226825 | 17226825 | Human | | name |
| 405733776 | CV3373702 | single nucleotide variant | NM_024578.3(OCEL1):c.145C>G (p.Leu49Val) | not specified [RCV004496738] | uncertain significance | 19 | 17226768 | 17226768 | Human | | name |
| 407505363 | CV3469609 | single nucleotide variant | NM_024578.3(OCEL1):c.161G>A (p.Arg54Gln) | not specified [RCV004646090] | likely benign | 19 | 17226784 | 17226784 | Human | | name |
| 598160653 | CV3998267 | single nucleotide variant | NM_024578.3(OCEL1):c.259G>A (p.Ala87Thr) | not specified [RCV005390446] | uncertain significance | 19 | 17227006 | 17227006 | Human | | name |
| 15152945 | CV728014 | single nucleotide variant | NM_024578.3(OCEL1):c.227C>G (p.Pro76Arg) | not provided [RCV000879911] | benign | 19 | 17226850 | 17226850 | Human | | name |
| 155975260 | CV2211261 | single nucleotide variant | NM_024578.3(OCEL1):c.630A>C (p.Gln210His) | not specified [RCV004090196] | likely benign | 19 | 17228267 | 17228267 | Human | | name |
| 156362756 | CV2330355 | single nucleotide variant | NM_024578.3(OCEL1):c.427C>A (p.Pro143Thr) | not specified [RCV004180931] | uncertain significance | 19 | 17227174 | 17227174 | Human | | name |
| 156336222 | CV2333641 | single nucleotide variant | NM_024578.3(OCEL1):c.706C>G (p.His236Asp) | not specified [RCV004192481] | uncertain significance | 19 | 17228836 | 17228836 | Human | | name |
| 156202668 | CV2334742 | single nucleotide variant | NM_024578.3(OCEL1):c.484C>T (p.Arg162Trp) | not specified [RCV004188720] | uncertain significance | 19 | 17227871 | 17227871 | Human | | name |
| 156095399 | CV2398949 | single nucleotide variant | NM_024578.3(OCEL1):c.640C>T (p.Arg214Trp) | not specified [RCV004245261] | uncertain significance | 19 | 17228277 | 17228277 | Human | | name |
| 329388101 | CV2437035 | single nucleotide variant | NM_024578.3(OCEL1):c.490C>T (p.Arg164Cys) | not specified [RCV004262848] | uncertain significance | 19 | 17227877 | 17227877 | Human | | name |
| 329377661 | CV2449917 | single nucleotide variant | NM_024578.3(OCEL1):c.604C>G (p.Pro202Ala) | not specified [RCV004268992] | uncertain significance | 19 | 17227991 | 17227991 | Human | | name |
| 401866168 | CV2775443 | single nucleotide variant | NM_024578.3(OCEL1):c.557C>T (p.Ala186Val) | not specified [RCV004348838] | uncertain significance | 19 | 17227944 | 17227944 | Human | | name |
| 401898705 | CV2782611 | single nucleotide variant | NM_024578.3(OCEL1):c.713T>C (p.Leu238Pro) | not specified [RCV004359636] | uncertain significance | 19 | 17228843 | 17228843 | Human | | name |
| 405733810 | CV3370147 | single nucleotide variant | NM_024578.3(OCEL1):c.641G>C (p.Arg214Pro) | not specified [RCV004496742] | uncertain significance | 19 | 17228278 | 17228278 | Human | | name |
| 405733817 | CV3370148 | single nucleotide variant | NM_024578.3(OCEL1):c.668G>A (p.Arg223Gln) | not specified [RCV004496743] | likely benign | 19 | 17228305 | 17228305 | Human | | name |
| 405733824 | CV3370149 | single nucleotide variant | NM_024578.3(OCEL1):c.738G>T (p.Lys246Asn) | not specified [RCV004496744] | uncertain significance | 19 | 17228868 | 17228868 | Human | | name |
| 405733783 | CV3373703 | single nucleotide variant | NM_024578.3(OCEL1):c.382G>A (p.Ala128Thr) | not specified [RCV004496739] | likely benign | 19 | 17227129 | 17227129 | Human | | name |
| 405733793 | CV3373704 | single nucleotide variant | NM_024578.3(OCEL1):c.394A>G (p.Ile132Val) | not specified [RCV004496740] | uncertain significance | 19 | 17227141 | 17227141 | Human | | name |
| 407505359 | CV3469605 | single nucleotide variant | NM_024578.3(OCEL1):c.449A>G (p.Glu150Gly) | not specified [RCV004646089] | uncertain significance | 19 | 17227196 | 17227196 | Human | | name |
| 407527135 | CV3469606 | single nucleotide variant | NM_024578.3(OCEL1):c.641G>A (p.Arg214Gln) | not specified [RCV004655060] | uncertain significance | 19 | 17228278 | 17228278 | Human | | name |
| 407527138 | CV3469607 | single nucleotide variant | NM_024578.3(OCEL1):c.482A>T (p.Glu161Val) | not specified [RCV004655061] | uncertain significance | 19 | 17227869 | 17227869 | Human | | name |
| 597732770 | CV3577430 | single nucleotide variant | NM_024578.3(OCEL1):c.325G>A (p.Ala109Thr) | not specified [RCV004843114] | uncertain significance | 19 | 17227072 | 17227072 | Human | | name |
| 597732780 | CV3577431 | single nucleotide variant | NM_024578.3(OCEL1):c.516G>C (p.Gln172His) | not specified [RCV004843115] | uncertain significance | 19 | 17227903 | 17227903 | Human | | name |
| 597732789 | CV3577432 | single nucleotide variant | NM_024578.3(OCEL1):c.370G>A (p.Ala124Thr) | not specified [RCV004843116] | uncertain significance | 19 | 17227117 | 17227117 | Human | | name |
| 597660596 | CV3577434 | single nucleotide variant | NM_024578.3(OCEL1):c.449A>C (p.Glu150Ala) | not specified [RCV004834899] | uncertain significance | 19 | 17227196 | 17227196 | Human | | name |
| 15162791 | CV704846 | single nucleotide variant | NM_024578.3(OCEL1):c.757G>A (p.Asp253Asn) | not provided [RCV000947928] | likely benign | 19 | 17228887 | 17228887 | Human | | name |