Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.13125898C= | CA1891470618 | OPTN | c.1149-48C= (n.1149-48C=) c.1131-48C= (n.1131-48C=) c.978-48C= (n.978-48C=) | |
10 | g.13125898C>G | CA5410880 | OPTN | c.1149-48C>G (n.1149-48C>G) c.1131-48C>G (n.1131-48C>G) c.978-48C>G (n.978-48C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13125898C>T | CA2608268397 | OPTN | c.1149-48C>T (n.1149-48C>T) c.1131-48C>T (n.1131-48C>T) c.978-48C>T (n.978-48C>T) | gnomAD v4 |
10 | g.13125899T>C | CA2608268398 | OPTN | c.1149-47T>C (n.1149-47T>C) c.1131-47T>C (n.1131-47T>C) c.978-47T>C (n.978-47T>C) | gnomAD v4 |
10 | g.13125899_13125902delinsTATG | CA1891470620 | OPTN | c.1149-47_1149-44delinsTATG (n.1149-47_1149-44delinsTATG) c.1131-47_1131-44delinsTATG (n.1131-47_1131-44delinsTATG) c.978-47_978-44delinsTATG (n.978-47_978-44delinsTATG) | |
10 | g.13125900A= | CA1891470625 | OPTN | c.1149-46A= (n.1149-46A=) c.1131-46A= (n.1131-46A=) c.978-46A= (n.978-46A=) | |
10 | g.13125900A>G | CA5410882 | OPTN | c.1149-46A>G (n.1149-46A>G) c.1131-46A>G (n.1131-46A>G) c.978-46A>G (n.978-46A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125902_13125904del | CA5410881 | OPTN | c.1149-44_1149-42del (n.1149-44_1149-42del) c.1131-44_1131-42del (n.1131-44_1131-42del) c.978-44_978-42del (n.978-44_978-42del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125902_13125909dup | CA2574491356 | OPTN | c.1149-44_1149-37dup (n.1149-44_1149-37dup) c.1131-44_1131-37dup (n.1131-44_1131-37dup) c.978-44_978-37dup (n.978-44_978-37dup) | gnomAD v4 |
10 | g.13125902G>A | CA5410883 | OPTN | c.1149-44G>A (n.1149-44G>A) c.1131-44G>A (n.1131-44G>A) c.978-44G>A (n.978-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13125902G= | CA1891470630 | OPTN | c.1149-44G= (n.1149-44G=) c.1131-44G= (n.1131-44G=) c.978-44G= (n.978-44G=) | |
10 | g.13125903A= | CA1891470632 | OPTN | c.1149-43A= (n.1149-43A=) c.1131-43A= (n.1131-43A=) c.978-43A= (n.978-43A=) | |
10 | g.13125903A>G | CA5410884 | OPTN | c.1149-43A>G (n.1149-43A>G) c.1131-43A>G (n.1131-43A>G) c.978-43A>G (n.978-43A>G) | dbSNP ExAC |
10 | g.13125904T>C | CA5410885 | OPTN | c.1149-42T>C (n.1149-42T>C) c.1131-42T>C (n.1131-42T>C) c.978-42T>C (n.978-42T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125904T= | CA1891470635 | OPTN | c.1149-42T= (n.1149-42T=) c.1131-42T= (n.1131-42T=) c.978-42T= (n.978-42T=) | |
10 | g.13125905_13125906delinsAT | CA1891470637 | OPTN | c.1149-41_1149-40delinsAT (n.1149-41_1149-40delinsAT) c.1131-41_1131-40delinsAT (n.1131-41_1131-40delinsAT) c.978-41_978-40delinsAT (n.978-41_978-40delinsAT) | |
10 | g.13125906T>C | CA2608268399 | OPTN | c.1149-40T>C (n.1149-40T>C) c.1131-40T>C (n.1131-40T>C) c.978-40T>C (n.978-40T>C) | gnomAD v4 |
10 | g.13125909del | CA5410886 | OPTN | c.1149-37del (n.1149-37del) c.1131-37del (n.1131-37del) c.978-37del (n.978-37del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125907T>C | CA2608268400 | OPTN | c.1149-39T>C (n.1149-39T>C) c.1131-39T>C (n.1131-39T>C) c.978-39T>C (n.978-39T>C) | gnomAD v4 |
10 | g.13125909_13125910delinsTC | CA1891470641 | OPTN | c.1149-37_1149-36delinsTC (n.1149-37_1149-36delinsTC) c.1131-37_1131-36delinsTC (n.1131-37_1131-36delinsTC) c.978-37_978-36delinsTC (n.978-37_978-36delinsTC) | |
10 | g.13125910C= | CA1891470652 | OPTN | c.1149-36C= (n.1149-36C=) c.1131-36C= (n.1131-36C=) c.978-36C= (n.978-36C=) | |
10 | g.13125910C>T | CA5410887 | OPTN | c.1149-36C>T (n.1149-36C>T) c.1131-36C>T (n.1131-36C>T) c.978-36C>T (n.978-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13125913del | CA376029545 | OPTN | c.1149-33del (n.1149-33del) c.1131-33del (n.1131-33del) c.978-33del (n.978-33del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125911C>A | CA2608268401 | OPTN | c.1149-35C>A (n.1149-35C>A) c.1131-35C>A (n.1131-35C>A) c.978-35C>A (n.978-35C>A) | gnomAD v4 |
10 | g.13125911C= | CA1891470660 | OPTN | c.1149-35C= (n.1149-35C=) c.1131-35C= (n.1131-35C=) c.978-35C= (n.978-35C=) | |
10 | g.13125911C>T | CA592075872 | OPTN | c.1149-35C>T (n.1149-35C>T) c.1131-35C>T (n.1131-35C>T) c.978-35C>T (n.978-35C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13125912C>G | CA2608268402 | OPTN | c.1149-34C>G (n.1149-34C>G) c.1131-34C>G (n.1131-34C>G) c.978-34C>G (n.978-34C>G) | gnomAD v4 |
10 | g.13125912C>T | CA2608268403 | OPTN | c.1149-34C>T (n.1149-34C>T) c.1131-34C>T (n.1131-34C>T) c.978-34C>T (n.978-34C>T) | gnomAD v4 |
10 | g.13125913C>A | CA2608268404 | OPTN | c.1149-33C>A (n.1149-33C>A) c.1131-33C>A (n.1131-33C>A) c.978-33C>A (n.978-33C>A) | gnomAD v4 |
10 | g.13125913C>T | CA2608268405 | OPTN | c.1149-33C>T (n.1149-33C>T) c.1131-33C>T (n.1131-33C>T) c.978-33C>T (n.978-33C>T) | gnomAD v4 |
10 | g.13125916G>A | CA592076033 | OPTN | c.1149-30G>A (n.1149-30G>A) c.1131-30G>A (n.1131-30G>A) c.978-30G>A (n.978-30G>A) | dbSNP gnomAD v2 |
10 | g.13125916G= | CA1891470670 | OPTN | c.1149-30G= (n.1149-30G=) c.1131-30G= (n.1131-30G=) c.978-30G= (n.978-30G=) | |
10 | g.13125916G>T | CA5410888 | OPTN | c.1149-30G>T (n.1149-30G>T) c.1131-30G>T (n.1131-30G>T) c.978-30G>T (n.978-30G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125918T>C | CA2574491360 | OPTN | c.1149-28T>C (n.1149-28T>C) c.1131-28T>C (n.1131-28T>C) c.978-28T>C (n.978-28T>C) | |
10 | g.13125919T>C | CA2608268406 | OPTN | c.1149-27T>C (n.1149-27T>C) c.1131-27T>C (n.1131-27T>C) c.978-27T>C (n.978-27T>C) | gnomAD v4 |
10 | g.13125922A= | CA1891470681 | OPTN | c.1149-24A= (n.1149-24A=) c.1131-24A= (n.1131-24A=) c.978-24A= (n.978-24A=) | |
10 | g.13125922A>T | CA592076034 | OPTN | c.1149-24A>T (n.1149-24A>T) c.1131-24A>T (n.1131-24A>T) c.978-24A>T (n.978-24A>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13125923T>C | CA592076036 | OPTN | c.1149-23T>C (n.1149-23T>C) c.1131-23T>C (n.1131-23T>C) c.978-23T>C (n.978-23T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13125923T= | CA1891470686 | OPTN | c.1149-23T= (n.1149-23T=) c.1131-23T= (n.1131-23T=) c.978-23T= (n.978-23T=) | |
10 | g.13125928dup | CA592076035 | OPTN | c.1149-18dup (n.1149-18dup) c.1131-18dup (n.1131-18dup) c.978-18dup (n.978-18dup) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13125928del | CA2608268407 | OPTN | c.1149-18del (n.1149-18del) c.1131-18del (n.1131-18del) c.978-18del (n.978-18del) | gnomAD v4 |
10 | g.13125924T>A | CA2608268408 | OPTN | c.1149-22T>A (n.1149-22T>A) c.1131-22T>A (n.1131-22T>A) c.978-22T>A (n.978-22T>A) | gnomAD v4 |
10 | g.13125924T>G | CA2608268409 | OPTN | c.1149-22T>G (n.1149-22T>G) c.1131-22T>G (n.1131-22T>G) c.978-22T>G (n.978-22T>G) | gnomAD v4 |
10 | g.13125925T>C | CA203267939 | OPTN | c.1149-21T>C (n.1149-21T>C) c.1131-21T>C (n.1131-21T>C) c.978-21T>C (n.978-21T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13125925T= | CA1891470690 | OPTN | c.1149-21T= (n.1149-21T=) c.1131-21T= (n.1131-21T=) c.978-21T= (n.978-21T=) | |
10 | g.13125927T>G | CA2786690918 | OPTN | c.1149-19T>G (n.1149-19T>G) c.1131-19T>G (n.1131-19T>G) c.978-19T>G (n.978-19T>G) | |
10 | g.13125928T>A | CA5410889 | OPTN | c.1149-18T>A (n.1149-18T>A) c.1131-18T>A (n.1131-18T>A) c.978-18T>A (n.978-18T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125928T= | CA1891470693 | OPTN | c.1149-18T= (n.1149-18T=) c.1131-18T= (n.1131-18T=) c.978-18T= (n.978-18T=) | |
10 | g.13125929A>T | CA2574491362 | OPTN | c.1149-17A>T (n.1149-17A>T) c.1131-17A>T (n.1131-17A>T) c.978-17A>T (n.978-17A>T) | gnomAD v4 |
10 | g.13125929_13125930insCTCTCAAAAA | CA1891470695 | OPTN | c.1149-17_1149-16insCTCTCAAAAA (n.1149-17_1149-16insCTCTCAAAAA) c.1131-17_1131-16insCTCTCAAAAA (n.1131-17_1131-16insCTCTCAAAAA) c.978-17_978-16insCTCTCAAAAA (n.978-17_978-16insCTCTCAAAAA) | dbSNP |
10 | g.13125929_13125931delinsAAT | CA1891470696 | OPTN | c.1149-17_1149-15delinsAAT (n.1149-17_1149-15delinsAAT) c.1131-17_1131-15delinsAAT (n.1131-17_1131-15delinsAAT) c.978-17_978-15delinsAAT (n.978-17_978-15delinsAAT) | |
10 | g.13125930A= | CA1891470699 | OPTN | c.1149-16A= (n.1149-16A=) c.1131-16A= (n.1131-16A=) c.978-16A= (n.978-16A=) | |
10 | g.13125930A>G | CA661737325 | OPTN | c.1149-16A>G (n.1149-16A>G) c.1131-16A>G (n.1131-16A>G) c.978-16A>G (n.978-16A>G) | dbSNP gnomAD v4 |
10 | g.13125932_13125933del | CA5410890 | OPTN | c.1149-14_1149-13del (n.1149-14_1149-13del) c.1131-14_1131-13del (n.1131-14_1131-13del) c.978-14_978-13del (n.978-14_978-13del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13125931T>A | CA1891470707 | OPTN | c.1149-15T>A (n.1149-15T>A) c.1131-15T>A (n.1131-15T>A) c.978-15T>A (n.978-15T>A) | dbSNP |
10 | g.13125931T>C | CA5410891 | OPTN | c.1149-15T>C (n.1149-15T>C) c.1131-15T>C (n.1131-15T>C) c.978-15T>C (n.978-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125931T= | CA1891470703 | OPTN | c.1149-15T= (n.1149-15T=) c.1131-15T= (n.1131-15T=) c.978-15T= (n.978-15T=) | |
10 | g.13125932A= | CA1891470715 | OPTN | c.1149-14A= (n.1149-14A=) c.1131-14A= (n.1131-14A=) c.978-14A= (n.978-14A=) | |
10 | g.13125932A>G | CA203267945 | OPTN | c.1149-14A>G (n.1149-14A>G) c.1131-14A>G (n.1131-14A>G) c.978-14A>G (n.978-14A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125932A>T | CA2608268410 | OPTN | c.1149-14A>T (n.1149-14A>T) c.1131-14A>T (n.1131-14A>T) c.978-14A>T (n.978-14A>T) | gnomAD v4 |
10 | g.13125933T>A | CA2740092965 | OPTN | c.1149-13T>A (n.1149-13T>A) c.1131-13T>A (n.1131-13T>A) c.978-13T>A (n.978-13T>A) | ClinVar |
10 | g.13125933T>C | CA1891470720 | OPTN | c.1149-13T>C (n.1149-13T>C) c.1131-13T>C (n.1131-13T>C) c.978-13T>C (n.978-13T>C) | dbSNP gnomAD v4 |
10 | g.13125933T= | CA1891470718 | OPTN | c.1149-13T= (n.1149-13T=) c.1131-13T= (n.1131-13T=) c.978-13T= (n.978-13T=) | |
10 | g.13125934C>A | CA1891470726 | OPTN | c.1149-12C>A (n.1149-12C>A) c.1131-12C>A (n.1131-12C>A) c.978-12C>A (n.978-12C>A) | dbSNP gnomAD v4 |
10 | g.13125934C= | CA1891470725 | OPTN | c.1149-12C= (n.1149-12C=) c.1131-12C= (n.1131-12C=) c.978-12C= (n.978-12C=) | |
10 | g.13125934C>G | CA2608268411 | OPTN | c.1149-12C>G (n.1149-12C>G) c.1131-12C>G (n.1131-12C>G) c.978-12C>G (n.978-12C>G) | gnomAD v4 |
10 | g.13125935T>C | CA2608268414 | OPTN | c.1149-11T>C (n.1149-11T>C) c.1131-11T>C (n.1131-11T>C) c.978-11T>C (n.978-11T>C) | gnomAD v4 |
10 | g.13125935T>G | CA2608268412 | OPTN | c.1149-11T>G (n.1149-11T>G) c.1131-11T>G (n.1131-11T>G) c.978-11T>G (n.978-11T>G) | gnomAD v4 |
10 | g.13125940dup | CA5410892 | OPTN | c.1149-6dup (n.1149-6dup) c.1131-6dup (n.1131-6dup) c.978-6dup (n.978-6dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13125940del | CA2608268413 | OPTN | c.1149-6del (n.1149-6del) c.1131-6del (n.1131-6del) c.978-6del (n.978-6del) | gnomAD v4 |
10 | g.13125937T>C | CA5410893 | OPTN | c.1149-9T>C (n.1149-9T>C) c.1131-9T>C (n.1131-9T>C) c.978-9T>C (n.978-9T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13125937T= | CA1891470729 | OPTN | c.1149-9T= (n.1149-9T=) c.1131-9T= (n.1131-9T=) c.978-9T= (n.978-9T=) | |
10 | g.13125938T>C | CA2608268415 | OPTN | c.1149-8T>C (n.1149-8T>C) c.1131-8T>C (n.1131-8T>C) c.978-8T>C (n.978-8T>C) | gnomAD v4 |
10 | g.13125939T>C | CA592076037 | OPTN | c.1149-7T>C (n.1149-7T>C) c.1131-7T>C (n.1131-7T>C) c.978-7T>C (n.978-7T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13125939T= | CA1891470731 | OPTN | c.1149-7T= (n.1149-7T=) c.1131-7T= (n.1131-7T=) c.978-7T= (n.978-7T=) | |
10 | g.13125940T>A | CA2608268416 | OPTN | c.1149-6T>A (n.1149-6T>A) c.1131-6T>A (n.1131-6T>A) c.978-6T>A (n.978-6T>A) | gnomAD v4 |
10 | g.13125940T>C | CA2608268417 | OPTN | c.1149-6T>C (n.1149-6T>C) c.1131-6T>C (n.1131-6T>C) c.978-6T>C (n.978-6T>C) | gnomAD v4 |
10 | g.13125941A>G | CA2608268418 | OPTN | c.1149-5A>G (n.1149-5A>G) c.1131-5A>G (n.1131-5A>G) c.978-5A>G (n.978-5A>G) | gnomAD v4 |
10 | g.13125942A= | CA1891470736 | OPTN | c.1149-4A= (n.1149-4A=) c.1131-4A= (n.1131-4A=) c.978-4A= (n.978-4A=) | |
10 | g.13125942A>G | CA1891470737 | OPTN | c.1149-4A>G (n.1149-4A>G) c.1131-4A>G (n.1131-4A>G) c.978-4A>G (n.978-4A>G) | dbSNP gnomAD v4 |
10 | g.13125944A= | CA1891470749 | OPTN | c.1149-2A= (n.1149-2A=) c.1131-2A= (n.1131-2A=) c.978-2A= (n.978-2A=) | |
10 | g.13125944A>C | CA376029546 | OPTN | c.1149-2A>C (n.1149-2A>C) c.1131-2A>C (n.1131-2A>C) c.978-2A>C (n.978-2A>C) | |
10 | g.13125944A>G | CA203267951 | OPTN | c.1149-2A>G (n.1149-2A>G) c.1131-2A>G (n.1131-2A>G) c.978-2A>G (n.978-2A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.13125944A>T | CA376029547 | OPTN | c.1149-2A>T (n.1149-2A>T) c.1131-2A>T (n.1131-2A>T) c.978-2A>T (n.978-2A>T) | |
10 | g.13125945G>A | CA376029550 | OPTN | c.1149-1G>A (n.1149-1G>A) c.1131-1G>A (n.1131-1G>A) c.978-1G>A (n.978-1G>A) | gnomAD v4 |
10 | g.13125945G>C | CA376029548 | OPTN | c.1149-1G>C (n.1149-1G>C) c.1131-1G>C (n.1131-1G>C) c.978-1G>C (n.978-1G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13125945G= | CA1891470755 | OPTN | c.1149-1G= (n.1149-1G=) c.1131-1G= (n.1131-1G=) c.978-1G= (n.978-1G=) | |
10 | g.13125945G>T | CA376029549 | OPTN | c.1149-1G>T (n.1149-1G>T) c.1131-1G>T (n.1131-1G>T) c.978-1G>T (n.978-1G>T) | COSMIC |
10 | g.13125946G>A | CA468240638 | OPTN | c.1149G>A (p.Lys383=) c.1131G>A (p.Lys377=) c.978G>A (p.Lys326=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125946G>C | CA376029551 | OPTN | c.1149G>C (p.Lys383Asn) c.1131G>C (p.Lys377Asn) c.978G>C (p.Lys326Asn) | |
10 | g.13125946G= | CA1891470761 | OPTN | c.1149G= (p.Lys383=) c.1131G= (p.Lys377=) c.978G= (p.Lys326=) | |
10 | g.13125946G>T | CA376029552 | OPTN | c.1149G>T (p.Lys383Asn) c.1131G>T (p.Lys377Asn) c.978G>T (p.Lys326Asn) | |
10 | g.13125947T>A | CA376029553 | OPTN | c.1150T>A (p.Ser384Thr) c.1132T>A (p.Ser378Thr) c.979T>A (p.Ser327Thr) | |
10 | g.13125947T>C | CA376029554 | OPTN | c.1150T>C (p.Ser384Pro) c.1132T>C (p.Ser378Pro) c.979T>C (p.Ser327Pro) | |
10 | g.13125947T>G | CA376029555 | OPTN | c.1150T>G (p.Ser384Ala) c.1132T>G (p.Ser378Ala) c.979T>G (p.Ser327Ala) | |
10 | g.13125948C>A | CA376029556 | OPTN | c.1151C>A (p.Ser384Tyr) c.1133C>A (p.Ser378Tyr) c.980C>A (p.Ser327Tyr) | dbSNP gnomAD v4 |
10 | g.13125948C>G | CA376029558 | OPTN | c.1151C>G (p.Ser384Cys) c.1133C>G (p.Ser378Cys) c.980C>G (p.Ser327Cys) | |
10 | g.13125948C>T | CA376029557 | OPTN | c.1151C>T (p.Ser384Phe) c.1133C>T (p.Ser378Phe) c.980C>T (p.Ser327Phe) | |
10 | g.13125949C>A | CA468240639 | OPTN | c.1152C>A (p.Ser384=) c.1134C>A (p.Ser378=) c.981C>A (p.Ser327=) | gnomAD v4 |
10 | g.13125949C>G | CA468240640 | OPTN | c.1152C>G (p.Ser384=) c.1134C>G (p.Ser378=) c.981C>G (p.Ser327=) | gnomAD v4 |
10 | g.13125949C>T | CA468240641 | OPTN | c.1152C>T (p.Ser384=) c.1134C>T (p.Ser378=) c.981C>T (p.Ser327=) | gnomAD v4 |
10 | g.13125950A>C | CA376029559 | OPTN | c.1153A>C (p.Lys385Gln) c.1135A>C (p.Lys379Gln) c.982A>C (p.Lys328Gln) | |
10 | g.13125950A>G | CA376029560 | OPTN | c.1153A>G (p.Lys385Glu) c.1135A>G (p.Lys379Glu) c.982A>G (p.Lys328Glu) | |
10 | g.13125950A>T | CA376029561 | OPTN | c.1153A>T (p.Lys385Ter) c.1135A>T (p.Lys379Ter) c.982A>T (p.Lys328Ter) | |
10 | g.13125951A= | CA1891470762 | OPTN | c.1154A= (p.Lys385=) c.1136A= (p.Lys379=) c.983A= (p.Lys328=) | |
10 | g.13125951A>C | CA376029562 | OPTN | c.1154A>C (p.Lys385Thr) c.1136A>C (p.Lys379Thr) c.983A>C (p.Lys328Thr) | |
10 | g.13125951A>G | CA376029563 | OPTN | c.1154A>G (p.Lys385Arg) c.1136A>G (p.Lys379Arg) c.983A>G (p.Lys328Arg) | ClinVar gnomAD v4 |
10 | g.13125951A>T | CA376029564 | OPTN | c.1154A>T (p.Lys385Ile) c.1136A>T (p.Lys379Ile) c.983A>T (p.Lys328Ile) | dbSNP gnomAD v4 |
10 | g.13125952A= | CA1891470767 | OPTN | c.1155A= (p.Lys385=) c.1137A= (p.Lys379=) c.984A= (p.Lys328=) | |
10 | g.13125952A>C | CA376029565 | OPTN | c.1155A>C (p.Lys385Asn) c.1137A>C (p.Lys379Asn) c.984A>C (p.Lys328Asn) | |
10 | g.13125952A>G | CA203267954 | OPTN | c.1155A>G (p.Lys385=) c.1137A>G (p.Lys379=) c.984A>G (p.Lys328=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125952A>T | CA376029566 | OPTN | c.1155A>T (p.Lys385Asn) c.1137A>T (p.Lys379Asn) c.984A>T (p.Lys328Asn) | dbSNP |
10 | g.13125953T>A | CA376029567 | OPTN | c.1156T>A (p.Leu386Ile) c.1138T>A (p.Leu380Ile) c.985T>A (p.Leu329Ile) | |
10 | g.13125953T>C | CA468240642 | OPTN | c.1156T>C (p.Leu386=) c.1138T>C (p.Leu380=) c.985T>C (p.Leu329=) | |
10 | g.13125953T>G | CA376029568 | OPTN | c.1156T>G (p.Leu386Val) c.1138T>G (p.Leu380Val) c.985T>G (p.Leu329Val) | |
10 | g.13125954T>A | CA376029571 | OPTN | c.1157T>A (p.Leu386Ter) c.1139T>A (p.Leu380Ter) c.986T>A (p.Leu329Ter) | |
10 | g.13125954T>C | CA376029570 | OPTN | c.1157T>C (p.Leu386Ser) c.1139T>C (p.Leu380Ser) c.986T>C (p.Leu329Ser) | |
10 | g.13125954T>G | CA376029569 | OPTN | c.1157T>G (p.Leu386Ter) c.1139T>G (p.Leu380Ter) c.986T>G (p.Leu329Ter) | |
10 | g.13125955A= | CA1891470775 | OPTN | c.1158A= (p.Leu386=) c.1140A= (p.Leu380=) c.987A= (p.Leu329=) | |
10 | g.13125955A>C | CA376029572 | OPTN | c.1158A>C (p.Leu386Phe) c.1140A>C (p.Leu380Phe) c.987A>C (p.Leu329Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13125955A>G | CA468240643 | OPTN | c.1158A>G (p.Leu386=) c.1140A>G (p.Leu380=) c.987A>G (p.Leu329=) | |
10 | g.13125955A>T | CA376029573 | OPTN | c.1158A>T (p.Leu386Phe) c.1140A>T (p.Leu380Phe) c.987A>T (p.Leu329Phe) | |
10 | g.13125956A>C | CA376029574 | OPTN | c.1159A>C (p.Thr387Pro) c.1141A>C (p.Thr381Pro) c.988A>C (p.Thr330Pro) | |
10 | g.13125956A>G | CA376029575 | OPTN | c.1159A>G (p.Thr387Ala) c.1141A>G (p.Thr381Ala) c.988A>G (p.Thr330Ala) | |
10 | g.13125956A>T | CA376029576 | OPTN | c.1159A>T (p.Thr387Ser) c.1141A>T (p.Thr381Ser) c.988A>T (p.Thr330Ser) | |
10 | g.13125957C>A | CA376029577 | OPTN | c.1160C>A (p.Thr387Asn) c.1142C>A (p.Thr381Asn) c.989C>A (p.Thr330Asn) | gnomAD v4 |
10 | g.13125957C= | CA1891470778 | OPTN | c.1160C= (p.Thr387=) c.1142C= (p.Thr381=) c.989C= (p.Thr330=) | |
10 | g.13125957C>G | CA376029578 | OPTN | c.1160C>G (p.Thr387Ser) c.1142C>G (p.Thr381Ser) c.989C>G (p.Thr330Ser) | |
10 | g.13125957C>T | CA376029579 | OPTN | c.1160C>T (p.Thr387Ile) c.1142C>T (p.Thr381Ile) c.989C>T (p.Thr330Ile) | dbSNP |
10 | g.13125958T>A | CA468240644 | OPTN | c.1161T>A (p.Thr387=) c.1143T>A (p.Thr381=) c.990T>A (p.Thr330=) | |
10 | g.13125958T>C | CA468240645 | OPTN | c.1161T>C (p.Thr387=) c.1143T>C (p.Thr381=) c.990T>C (p.Thr330=) | gnomAD v4 |
10 | g.13125958T>G | CA468240646 | OPTN | c.1161T>G (p.Thr387=) c.1143T>G (p.Thr381=) c.990T>G (p.Thr330=) | |
10 | g.13125960_13125961del | CA2608268419 | OPTN | c.1163_1164del (p.Val388AlafsTer13) c.1145_1146del (p.Val382AlafsTer13) c.992_993del (p.Val331AlafsTer13) | gnomAD v4 |
10 | g.13125959G>A | CA376029580 | OPTN | c.1162G>A (p.Val388Met) c.1144G>A (p.Val382Met) c.991G>A (p.Val331Met) | |
10 | g.13125959G>C | CA376029581 | OPTN | c.1162G>C (p.Val388Leu) c.1144G>C (p.Val382Leu) c.991G>C (p.Val331Leu) | |
10 | g.13125959G>T | CA376029582 | OPTN | c.1162G>T (p.Val388Leu) c.1144G>T (p.Val382Leu) c.991G>T (p.Val331Leu) | |
10 | g.13125960T>A | CA376029583 | OPTN | c.1163T>A (p.Val388Glu) c.1145T>A (p.Val382Glu) c.992T>A (p.Val331Glu) | |
10 | g.13125960T>C | CA376029584 | OPTN | c.1163T>C (p.Val388Ala) c.1145T>C (p.Val382Ala) c.992T>C (p.Val331Ala) | |
10 | g.13125960T>G | CA376029585 | OPTN | c.1163T>G (p.Val388Gly) c.1145T>G (p.Val382Gly) c.992T>G (p.Val331Gly) | |
10 | g.13125961G>A | CA468240649 | OPTN | c.1164G>A (p.Val388=) c.1146G>A (p.Val382=) c.993G>A (p.Val331=) | |
10 | g.13125961G>C | CA468240647 | OPTN | c.1164G>C (p.Val388=) c.1146G>C (p.Val382=) c.993G>C (p.Val331=) | |
10 | g.13125961G>T | CA468240648 | OPTN | c.1164G>T (p.Val388=) c.1146G>T (p.Val382=) c.993G>T (p.Val331=) | |
10 | g.13125962C>A | CA376029587 | OPTN | c.1165C>A (p.Leu389Ile) c.1147C>A (p.Leu383Ile) c.994C>A (p.Leu332Ile) | gnomAD v4 |
10 | g.13125962C= | CA1891470783 | OPTN | c.1165C= (p.Leu389=) c.1147C= (p.Leu383=) c.994C= (p.Leu332=) | |
10 | g.13125962C>G | CA376029586 | OPTN | c.1165C>G (p.Leu389Val) c.1147C>G (p.Leu383Val) c.994C>G (p.Leu332Val) | |
10 | g.13125962C>T | CA468240650 | OPTN | c.1165C>T (p.Leu389=) c.1147C>T (p.Leu383=) c.994C>T (p.Leu332=) | dbSNP gnomAD v4 |
10 | g.13125963T>A | CA376029588 | OPTN | c.1166T>A (p.Leu389Gln) c.1148T>A (p.Leu383Gln) c.995T>A (p.Leu332Gln) | |
10 | g.13125963T>C | CA376029589 | OPTN | c.1166T>C (p.Leu389Pro) c.1148T>C (p.Leu383Pro) c.995T>C (p.Leu332Pro) | |
10 | g.13125963T>G | CA376029590 | OPTN | c.1166T>G (p.Leu389Arg) c.1148T>G (p.Leu383Arg) c.995T>G (p.Leu332Arg) | gnomAD v4 |
10 | g.13125964A>C | CA468240651 | OPTN | c.1167A>C (p.Leu389=) c.1149A>C (p.Leu383=) c.996A>C (p.Leu332=) | |
10 | g.13125964A>G | CA468240652 | OPTN | c.1167A>G (p.Leu389=) c.1149A>G (p.Leu383=) c.996A>G (p.Leu332=) | |
10 | g.13125964A>T | CA468240653 | OPTN | c.1167A>T (p.Leu389=) c.1149A>T (p.Leu383=) c.996A>T (p.Leu332=) | |
10 | g.13125965C>A | CA376029591 | OPTN | c.1168C>A (p.Gln390Lys) c.1150C>A (p.Gln384Lys) c.997C>A (p.Gln333Lys) | |
10 | g.13125965C>G | CA376029592 | OPTN | c.1168C>G (p.Gln390Glu) c.1150C>G (p.Gln384Glu) c.997C>G (p.Gln333Glu) | |
10 | g.13125965C>T | CA376029593 | OPTN | c.1168C>T (p.Gln390Ter) c.1150C>T (p.Gln384Ter) c.997C>T (p.Gln333Ter) | |
10 | g.13125966A>C | CA376029594 | OPTN | c.1169A>C (p.Gln390Pro) c.1151A>C (p.Gln384Pro) c.998A>C (p.Gln333Pro) | |
10 | g.13125966A>G | CA376029595 | OPTN | c.1169A>G (p.Gln390Arg) c.1151A>G (p.Gln384Arg) c.998A>G (p.Gln333Arg) | gnomAD v4 |
10 | g.13125966A>T | CA376029596 | OPTN | c.1169A>T (p.Gln390Leu) c.1151A>T (p.Gln384Leu) c.998A>T (p.Gln333Leu) | |
10 | g.13125967G>A | CA5410894 | OPTN | c.1170G>A (p.Gln390=) c.1152G>A (p.Gln384=) c.999G>A (p.Gln333=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13125967G>C | CA376029597 | OPTN | c.1170G>C (p.Gln390His) c.1152G>C (p.Gln384His) c.999G>C (p.Gln333His) | |
10 | g.13125967G= | CA1891470787 | OPTN | c.1170G= (p.Gln390=) c.1152G= (p.Gln384=) c.999G= (p.Gln333=) | |
10 | g.13125967G>T | CA376029598 | OPTN | c.1170G>T (p.Gln390His) c.1152G>T (p.Gln384His) c.999G>T (p.Gln333His) | |
10 | g.13125968A>C | CA376029600 | OPTN | c.1171A>C (p.Met391Leu) c.1153A>C (p.Met385Leu) c.1000A>C (p.Met334Leu) | |
10 | g.13125968A>G | CA376029601 | OPTN | c.1171A>G (p.Met391Val) c.1153A>G (p.Met385Val) c.1000A>G (p.Met334Val) | |
10 | g.13125968A>T | CA376029599 | OPTN | c.1171A>T (p.Met391Leu) c.1153A>T (p.Met385Leu) c.1000A>T (p.Met334Leu) | |
10 | g.13125969T>A | CA376029602 | OPTN | c.1172T>A (p.Met391Lys) c.1154T>A (p.Met385Lys) c.1001T>A (p.Met334Lys) | |
10 | g.13125969T>C | CA376029603 | OPTN | c.1172T>C (p.Met391Thr) c.1154T>C (p.Met385Thr) c.1001T>C (p.Met334Thr) | dbSNP gnomAD v4 |
10 | g.13125969T>G | CA376029604 | OPTN | c.1172T>G (p.Met391Arg) c.1154T>G (p.Met385Arg) c.1001T>G (p.Met334Arg) | |
10 | g.13125969T= | CA1891470791 | OPTN | c.1172T= (p.Met391=) c.1154T= (p.Met385=) c.1001T= (p.Met334=) | |
10 | g.13125970G>A | CA376029605 | OPTN | c.1173G>A (p.Met391Ile) c.1155G>A (p.Met385Ile) c.1002G>A (p.Met334Ile) | |
10 | g.13125970G>C | CA376029606 | OPTN | c.1173G>C (p.Met391Ile) c.1155G>C (p.Met385Ile) c.1002G>C (p.Met334Ile) | |
10 | g.13125970G>T | CA376029607 | OPTN | c.1173G>T (p.Met391Ile) c.1155G>T (p.Met385Ile) c.1002G>T (p.Met334Ile) | |
10 | g.13125971A= | CA1891470793 | OPTN | c.1174A= (p.Thr392=) c.1156A= (p.Thr386=) c.1003A= (p.Thr335=) | |
10 | g.13125971A>C | CA376029608 | OPTN | c.1174A>C (p.Thr392Pro) c.1156A>C (p.Thr386Pro) c.1003A>C (p.Thr335Pro) | |
10 | g.13125971A>G | CA5410895 | OPTN | c.1174A>G (p.Thr392Ala) c.1156A>G (p.Thr386Ala) c.1003A>G (p.Thr335Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13125971A>T | CA376029609 | OPTN | c.1174A>T (p.Thr392Ser) c.1156A>T (p.Thr386Ser) c.1003A>T (p.Thr335Ser) | |
10 | g.13125972C>A | CA376029610 | OPTN | c.1175C>A (p.Thr392Lys) c.1157C>A (p.Thr386Lys) c.1004C>A (p.Thr335Lys) | |
10 | g.13125972C>G | CA376029611 | OPTN | c.1175C>G (p.Thr392Arg) c.1157C>G (p.Thr386Arg) c.1004C>G (p.Thr335Arg) | |
10 | g.13125972C>T | CA376029612 | OPTN | c.1175C>T (p.Thr392Ile) c.1157C>T (p.Thr386Ile) c.1004C>T (p.Thr335Ile) | |
10 | g.13125973A>C | CA468240654 | OPTN | c.1176A>C (p.Thr392=) c.1158A>C (p.Thr386=) c.1005A>C (p.Thr335=) | |
10 | g.13125973A>G | CA468240655 | OPTN | c.1176A>G (p.Thr392=) c.1158A>G (p.Thr386=) c.1005A>G (p.Thr335=) | |
10 | g.13125973A>T | CA468240656 | OPTN | c.1176A>T (p.Thr392=) c.1158A>T (p.Thr386=) c.1005A>T (p.Thr335=) | |
10 | g.13125974C>A | CA376029614 | OPTN | c.1177C>A (p.His393Asn) c.1159C>A (p.His387Asn) c.1006C>A (p.His336Asn) | |
10 | g.13125974C>G | CA376029615 | OPTN | c.1177C>G (p.His393Asp) c.1159C>G (p.His387Asp) c.1006C>G (p.His336Asp) | |
10 | g.13125974C>T | CA376029613 | OPTN | c.1177C>T (p.His393Tyr) c.1159C>T (p.His387Tyr) c.1006C>T (p.His336Tyr) | |
10 | g.13125974_13125977delinsCACA | CA1891470798 | OPTN | c.1177_1180delinsCACA (p.His393=) c.1159_1162delinsCACA (p.His387=) c.1006_1009delinsCACA (p.His336=) | |
10 | g.13125975A>C | CA376029616 | OPTN | c.1178A>C (p.His393Pro) c.1160A>C (p.His387Pro) c.1007A>C (p.His336Pro) | |
10 | g.13125975A>G | CA376029617 | OPTN | c.1178A>G (p.His393Arg) c.1160A>G (p.His387Arg) c.1007A>G (p.His336Arg) | |
10 | g.13125975A>T | CA376029618 | OPTN | c.1178A>T (p.His393Leu) c.1160A>T (p.His387Leu) c.1007A>T (p.His336Leu) | gnomAD v4 |
10 | g.13125979_13125981del | CA661737387 | OPTN | c.1182_1184del (p.Asn394del) c.1164_1166del (p.Asn388del) c.1011_1013del (p.Asn337del) | dbSNP |
10 | g.13125976C>A | CA376029619 | OPTN | c.1179C>A (p.His393Gln) c.1161C>A (p.His387Gln) c.1008C>A (p.His336Gln) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13125976C= | CA1891470806 | OPTN | c.1179C= (p.His393=) c.1161C= (p.His387=) c.1008C= (p.His336=) | |
10 | g.13125976C>G | CA376029620 | OPTN | c.1179C>G (p.His393Gln) c.1161C>G (p.His387Gln) c.1008C>G (p.His336Gln) | |
10 | g.13125976C>T | CA203267959 | OPTN | c.1179C>T (p.His393=) c.1161C>T (p.His387=) c.1008C>T (p.His336=) | ClinVar dbSNP |
10 | g.13125977A>C | CA376029623 | OPTN | c.1180A>C (p.Asn394His) c.1162A>C (p.Asn388His) c.1009A>C (p.Asn337His) | |
10 | g.13125977A>G | CA376029621 | OPTN | c.1180A>G (p.Asn394Asp) c.1162A>G (p.Asn388Asp) c.1009A>G (p.Asn337Asp) | |
10 | g.13125977A>T | CA376029622 | OPTN | c.1180A>T (p.Asn394Tyr) c.1162A>T (p.Asn388Tyr) c.1009A>T (p.Asn337Tyr) | |
10 | g.13125978A>C | CA376029624 | OPTN | c.1181A>C (p.Asn394Thr) c.1163A>C (p.Asn388Thr) c.1010A>C (p.Asn337Thr) | |
10 | g.13125978A>G | CA376029625 | OPTN | c.1181A>G (p.Asn394Ser) c.1163A>G (p.Asn388Ser) c.1010A>G (p.Asn337Ser) | |
10 | g.13125978A>T | CA376029626 | OPTN | c.1181A>T (p.Asn394Ile) c.1163A>T (p.Asn388Ile) c.1010A>T (p.Asn337Ile) | |
10 | g.13125979C>A | CA376029627 | OPTN | c.1182C>A (p.Asn394Lys) c.1164C>A (p.Asn388Lys) c.1011C>A (p.Asn337Lys) | dbSNP |
10 | g.13125979C= | CA1891470821 | OPTN | c.1182C= (p.Asn394=) c.1164C= (p.Asn388=) c.1011C= (p.Asn337=) | |
10 | g.13125979C>G | CA376029628 | OPTN | c.1182C>G (p.Asn394Lys) c.1164C>G (p.Asn388Lys) c.1011C>G (p.Asn337Lys) | |
10 | g.13125979C>T | CA468240658 | OPTN | c.1182C>T (p.Asn394=) c.1164C>T (p.Asn388=) c.1011C>T (p.Asn337=) | |
10 | g.13125980A>C | CA376029631 | OPTN | c.1183A>C (p.Lys395Gln) c.1165A>C (p.Lys389Gln) c.1012A>C (p.Lys338Gln) | |
10 | g.13125980A>G | CA376029630 | OPTN | c.1183A>G (p.Lys395Glu) c.1165A>G (p.Lys389Glu) c.1012A>G (p.Lys338Glu) | |
10 | g.13125980A>T | CA376029629 | OPTN | c.1183A>T (p.Lys395Ter) c.1165A>T (p.Lys389Ter) c.1012A>T (p.Lys338Ter) | |
10 | g.13125981A>C | CA376029632 | OPTN | c.1184A>C (p.Lys395Thr) c.1166A>C (p.Lys389Thr) c.1013A>C (p.Lys338Thr) | |
10 | g.13125981A>G | CA376029633 | OPTN | c.1184A>G (p.Lys395Arg) c.1166A>G (p.Lys389Arg) c.1013A>G (p.Lys338Arg) | gnomAD v4 |
10 | g.13125981A>T | CA376029634 | OPTN | c.1184A>T (p.Lys395Met) c.1166A>T (p.Lys389Met) c.1013A>T (p.Lys338Met) | |
10 | g.13125982G>A | CA468240659 | OPTN | c.1185G>A (p.Lys395=) c.1167G>A (p.Lys389=) c.1014G>A (p.Lys338=) | dbSNP gnomAD v4 |
10 | g.13125982G>C | CA376029635 | OPTN | c.1185G>C (p.Lys395Asn) c.1167G>C (p.Lys389Asn) c.1014G>C (p.Lys338Asn) | |
10 | g.13125982G= | CA1891470826 | OPTN | c.1185G= (p.Lys395=) c.1167G= (p.Lys389=) c.1014G= (p.Lys338=) | |
10 | g.13125982G>T | CA376029636 | OPTN | c.1185G>T (p.Lys395Asn) c.1167G>T (p.Lys389Asn) c.1014G>T (p.Lys338Asn) | |
10 | g.13125983C>A | CA376029637 | OPTN | c.1186C>A (p.Leu396Ile) c.1168C>A (p.Leu390Ile) c.1015C>A (p.Leu339Ile) | |
10 | g.13125983C>G | CA376029638 | OPTN | c.1186C>G (p.Leu396Val) c.1168C>G (p.Leu390Val) c.1015C>G (p.Leu339Val) | |
10 | g.13125983C>T | CA376029639 | OPTN | c.1186C>T (p.Leu396Phe) c.1168C>T (p.Leu390Phe) c.1015C>T (p.Leu339Phe) | |
10 | g.13125984T>A | CA376029640 | OPTN | c.1187T>A (p.Leu396His) c.1169T>A (p.Leu390His) c.1016T>A (p.Leu339His) | |
10 | g.13125984T>C | CA376029641 | OPTN | c.1187T>C (p.Leu396Pro) c.1169T>C (p.Leu390Pro) c.1016T>C (p.Leu339Pro) | gnomAD v4 |
10 | g.13125984T>G | CA376029642 | OPTN | c.1187T>G (p.Leu396Arg) c.1169T>G (p.Leu390Arg) c.1016T>G (p.Leu339Arg) | |
10 | g.13125985T>A | CA468240660 | OPTN | c.1188T>A (p.Leu396=) c.1170T>A (p.Leu390=) c.1017T>A (p.Leu339=) | |
10 | g.13125985T>C | CA468240661 | OPTN | c.1188T>C (p.Leu396=) c.1170T>C (p.Leu390=) c.1017T>C (p.Leu339=) | |
10 | g.13125985T>G | CA468240662 | OPTN | c.1188T>G (p.Leu396=) c.1170T>G (p.Leu390=) c.1017T>G (p.Leu339=) | |
10 | g.13125986C>A | CA376029643 | OPTN | c.1189C>A (p.Leu397Ile) c.1171C>A (p.Leu391Ile) c.1018C>A (p.Leu340Ile) | |
10 | g.13125986C>G | CA376029644 | OPTN | c.1189C>G (p.Leu397Val) c.1171C>G (p.Leu391Val) c.1018C>G (p.Leu340Val) | |
10 | g.13125986C>T | CA376029645 | OPTN | c.1189C>T (p.Leu397Phe) c.1171C>T (p.Leu391Phe) c.1018C>T (p.Leu340Phe) | gnomAD v4 |
10 | g.13125987T>A | CA376029648 | OPTN | c.1190T>A (p.Leu397His) c.1172T>A (p.Leu391His) c.1019T>A (p.Leu340His) | |
10 | g.13125987T>C | CA376029647 | OPTN | c.1190T>C (p.Leu397Pro) c.1172T>C (p.Leu391Pro) c.1019T>C (p.Leu340Pro) | |
10 | g.13125987T>G | CA376029646 | OPTN | c.1190T>G (p.Leu397Arg) c.1172T>G (p.Leu391Arg) c.1019T>G (p.Leu340Arg) | |
10 | g.13125988T>A | CA468240663 | OPTN | c.1191T>A (p.Leu397=) c.1173T>A (p.Leu391=) c.1020T>A (p.Leu340=) | |
10 | g.13125988T>C | CA468240665 | OPTN | c.1191T>C (p.Leu397=) c.1173T>C (p.Leu391=) c.1020T>C (p.Leu340=) | |
10 | g.13125988T>G | CA468240664 | OPTN | c.1191T>G (p.Leu397=) c.1173T>G (p.Leu391=) c.1020T>G (p.Leu340=) | |
10 | g.13125989C>A | CA376029649 | OPTN | c.1192C>A (p.Gln398Lys) c.1174C>A (p.Gln392Lys) c.1021C>A (p.Gln341Lys) | |
10 | g.13125989C= | CA1891470835 | OPTN | c.1192C= (p.Gln398=) c.1174C= (p.Gln392=) c.1021C= (p.Gln341=) | |
10 | g.13125989C>G | CA5410896 | OPTN | c.1192C>G (p.Gln398Glu) c.1174C>G (p.Gln392Glu) c.1021C>G (p.Gln341Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125989C>T | CA254103 | OPTN | c.1192C>T (p.Gln398Ter) c.1174C>T (p.Gln392Ter) c.1021C>T (p.Gln341Ter) | ClinVar dbSNP |
10 | g.13125990A>C | CA376029650 | OPTN | c.1193A>C (p.Gln398Pro) c.1175A>C (p.Gln392Pro) c.1022A>C (p.Gln341Pro) | COSMIC |
10 | g.13125990A>G | CA376029651 | OPTN | c.1193A>G (p.Gln398Arg) c.1175A>G (p.Gln392Arg) c.1022A>G (p.Gln341Arg) | |
10 | g.13125990A>T | CA376029652 | OPTN | c.1193A>T (p.Gln398Leu) c.1175A>T (p.Gln392Leu) c.1022A>T (p.Gln341Leu) | |
10 | g.13125991A>C | CA376029653 | OPTN | c.1194A>C (p.Gln398His) c.1176A>C (p.Gln392His) c.1023A>C (p.Gln341His) | |
10 | g.13125991A>G | CA468240666 | OPTN | c.1194A>G (p.Gln398=) c.1176A>G (p.Gln392=) c.1023A>G (p.Gln341=) | gnomAD v4 |
10 | g.13125991A>T | CA376029654 | OPTN | c.1194A>T (p.Gln398His) c.1176A>T (p.Gln392His) c.1023A>T (p.Gln341His) | |
10 | g.13125992G>A | CA376029655 | OPTN | c.1195G>A (p.Glu399Lys) c.1177G>A (p.Glu393Lys) c.1024G>A (p.Glu342Lys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13125992G>C | CA376029656 | OPTN | c.1195G>C (p.Glu399Gln) c.1177G>C (p.Glu393Gln) c.1024G>C (p.Glu342Gln) | |
10 | g.13125992G= | CA1891470844 | OPTN | c.1195G= (p.Glu399=) c.1177G= (p.Glu393=) c.1024G= (p.Glu342=) | |
10 | g.13125992G>T | CA376029657 | OPTN | c.1195G>T (p.Glu399Ter) c.1177G>T (p.Glu393Ter) c.1024G>T (p.Glu342Ter) | ClinVar |
10 | g.13125993A>C | CA376029658 | OPTN | c.1196A>C (p.Glu399Ala) c.1178A>C (p.Glu393Ala) c.1025A>C (p.Glu342Ala) | |
10 | g.13125993A>G | CA376029659 | OPTN | c.1196A>G (p.Glu399Gly) c.1178A>G (p.Glu393Gly) c.1025A>G (p.Glu342Gly) | |
10 | g.13125993A>T | CA376029660 | OPTN | c.1196A>T (p.Glu399Val) c.1178A>T (p.Glu393Val) c.1025A>T (p.Glu342Val) | |
10 | g.13125994A= | CA1891470861 | OPTN | c.1197A= (p.Glu399=) c.1179A= (p.Glu393=) c.1026A= (p.Glu342=) | |
10 | g.13125994A>C | CA376029662 | OPTN | c.1197A>C (p.Glu399Asp) c.1179A>C (p.Glu393Asp) c.1026A>C (p.Glu342Asp) | |
10 | g.13125994A>G | CA5410897 | OPTN | c.1197A>G (p.Glu399=) c.1179A>G (p.Glu393=) c.1026A>G (p.Glu342=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125994A>T | CA376029661 | OPTN | c.1197A>T (p.Glu399Asp) c.1179A>T (p.Glu393Asp) c.1026A>T (p.Glu342Asp) | |
10 | g.13125994_13125995delinsGT | CA2580081341 | OPTN | c.1197_1198delinsGT (p.His400Tyr) c.1179_1180delinsGT (p.His394Tyr) c.1026_1027delinsGT (p.His343Tyr) | ClinVar |
10 | g.13125995C>A | CA376029663 | OPTN | c.1198C>A (p.His400Asn) c.1180C>A (p.His394Asn) c.1027C>A (p.His343Asn) | |
10 | g.13125995C= | CA1891470866 | OPTN | c.1198C= (p.His400=) c.1180C= (p.His394=) c.1027C= (p.His343=) | |
10 | g.13125995C>G | CA376029664 | OPTN | c.1198C>G (p.His400Asp) c.1180C>G (p.His394Asp) c.1027C>G (p.His343Asp) | |
10 | g.13125995C>T | CA5410898 | OPTN | c.1198C>T (p.His400Tyr) c.1180C>T (p.His394Tyr) c.1027C>T (p.His343Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13125996A>C | CA376029665 | OPTN | c.1199A>C (p.His400Pro) c.1181A>C (p.His394Pro) c.1028A>C (p.His343Pro) | |
10 | g.13125996A>G | CA376029666 | OPTN | c.1199A>G (p.His400Arg) c.1181A>G (p.His394Arg) c.1028A>G (p.His343Arg) | gnomAD v4 |
10 | g.13125996A>T | CA376029667 | OPTN | c.1199A>T (p.His400Leu) c.1181A>T (p.His394Leu) c.1028A>T (p.His343Leu) | |
10 | g.13125997T>A | CA376029668 | OPTN | c.1200T>A (p.His400Gln) c.1182T>A (p.His394Gln) c.1029T>A (p.His343Gln) | |
10 | g.13125997T>C | CA468240667 | OPTN | c.1200T>C (p.His400=) c.1182T>C (p.His394=) c.1029T>C (p.His343=) | |
10 | g.13125997T>G | CA376029669 | OPTN | c.1200T>G (p.His400Gln) c.1182T>G (p.His394Gln) c.1029T>G (p.His343Gln) | |
10 | g.13125998A= | CA1891470871 | OPTN | c.1201A= (p.Asn401=) c.1183A= (p.Asn395=) c.1030A= (p.Asn344=) | |
10 | g.13125998A>C | CA376029670 | OPTN | c.1201A>C (p.Asn401His) c.1183A>C (p.Asn395His) c.1030A>C (p.Asn344His) | |
10 | g.13125998A>G | CA376029671 | OPTN | c.1201A>G (p.Asn401Asp) c.1183A>G (p.Asn395Asp) c.1030A>G (p.Asn344Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.13125998A>T | CA376029672 | OPTN | c.1201A>T (p.Asn401Tyr) c.1183A>T (p.Asn395Tyr) c.1030A>T (p.Asn344Tyr) | |
10 | g.13125998_13126005delinsAATAATGC | CA1891470873 | OPTN | c.1201_1208delinsAATAATGC (p.Asn401=) c.1183_1190delinsAATAATGC (p.Asn395=) c.1030_1037delinsAATAATGC (p.Asn344=) |