Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.24800140_24800165del | CA2670208909 | SOD3 | c.619_644del (p.Cys207ArgfsTer?) n.809_834del | gnomAD v4 |
4 | g.24800153del | CA2670208910 | SOD3 | c.632del (p.Gly211AlafsTer?) n.822del | gnomAD v4 |
4 | g.24800153G>A | CA356640364 | SOD3 | c.632G>A (p.Gly211Asp) n.822G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800153G>C | CA356640366 | SOD3 | c.632G>C (p.Gly211Ala) n.822G>C | gnomAD v4 |
4 | g.24800153G= | CA1445033171 | SOD3 | c.632G= (p.Gly211=) n.822G= | |
4 | g.24800153G>T | CA356640367 | SOD3 | c.632G>T (p.Gly211Val) n.822G>T | gnomAD v4 |
4 | g.24800154C>A | CA438901673 | SOD3 | c.633C>A (p.Gly211=) n.823C>A | gnomAD v4 |
4 | g.24800154C= | CA1445033174 | SOD3 | c.633C= (p.Gly211=) n.823C= | |
4 | g.24800154C>G | CA438901674 | SOD3 | c.633C>G (p.Gly211=) n.823C>G | dbSNP gnomAD v4 |
4 | g.24800154C>T | CA438901676 | SOD3 | c.633C>T (p.Gly211=) n.823C>T | dbSNP gnomAD v4 |
4 | g.24800155G>A | CA94297249 | SOD3 | c.634G>A (p.Val212Met) n.824G>A | dbSNP gnomAD v4 |
4 | g.24800155G>C | CA356640371 | SOD3 | c.634G>C (p.Val212Leu) n.824G>C | gnomAD v4 |
4 | g.24800155G= | CA1445033178 | SOD3 | c.634G= (p.Val212=) n.824G= | |
4 | g.24800155G>T | CA356640373 | SOD3 | c.634G>T (p.Val212Leu) n.824G>T | gnomAD v4 |
4 | g.24800156T>A | CA94297250 | SOD3 | c.635T>A (p.Val212Glu) n.825T>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800156T>C | CA356640375 | SOD3 | c.635T>C (p.Val212Ala) n.825T>C | gnomAD v4 |
4 | g.24800156T>G | CA356640377 | SOD3 | c.635T>G (p.Val212Gly) n.825T>G | |
4 | g.24800156T= | CA1445033180 | SOD3 | c.635T= (p.Val212=) n.825T= | |
4 | g.24800157G>A | CA438901682 | SOD3 | c.636G>A (p.Val212=) n.826G>A | gnomAD v4 |
4 | g.24800157G>C | CA438901683 | SOD3 | c.636G>C (p.Val212=) n.826G>C | gnomAD v4 |
4 | g.24800157G>T | CA438901684 | SOD3 | c.636G>T (p.Val212=) n.826G>T | gnomAD v4 |
4 | g.24800158T>A | CA356640383 | SOD3 | c.637T>A (p.Cys213Ser) n.827T>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800158T>C | CA356640381 | SOD3 | c.637T>C (p.Cys213Arg) n.827T>C | gnomAD v4 |
4 | g.24800158T>G | CA356640380 | SOD3 | c.637T>G (p.Cys213Gly) n.827T>G | gnomAD v4 |
4 | g.24800158T= | CA1445033182 | SOD3 | c.637T= (p.Cys213=) n.827T= | |
4 | g.24800159G>A | CA356640389 | SOD3 | c.638G>A (p.Cys213Tyr) n.828G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800159G>C | CA356640386 | SOD3 | c.638G>C (p.Cys213Ser) n.828G>C | gnomAD v4 |
4 | g.24800159G= | CA1445033185 | SOD3 | c.638G= (p.Cys213=) n.828G= | |
4 | g.24800159G>T | CA356640387 | SOD3 | c.638G>T (p.Cys213Phe) n.828G>T | gnomAD v4 |
4 | g.24800160del | CA2670208911 | SOD3 | c.639del (p.Cys213TrpfsTer?) n.829del | gnomAD v4 |
4 | g.24800160C>A | CA356640391 | SOD3 | c.639C>A (p.Cys213Ter) n.829C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800160C= | CA1445033187 | SOD3 | c.639C= (p.Cys213=) n.829C= | |
4 | g.24800160C>G | CA356640393 | SOD3 | c.639C>G (p.Cys213Trp) n.829C>G | gnomAD v4 |
4 | g.24800160C>T | CA438901695 | SOD3 | c.639C>T (p.Cys213=) n.829C>T | gnomAD v4 |
4 | g.24800161G>A | CA356640395 | SOD3 | c.640G>A (p.Gly214Arg) n.830G>A | gnomAD v4 |
4 | g.24800161G>C | CA94297251 | SOD3 | c.640G>C (p.Gly214Arg) n.830G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800161G= | CA1445033189 | SOD3 | c.640G= (p.Gly214=) n.830G= | |
4 | g.24800161G>T | CA356640398 | SOD3 | c.640G>T (p.Gly214Trp) n.830G>T | gnomAD v4 |
4 | g.24800162_24800163insACAGG | CA2670208912 | SOD3 | c.641_642insACAGG (p.Pro215GlnfsTer?) n.831_832insACAGG | gnomAD v4 |
4 | g.24800162G>A | CA356640400 | SOD3 | c.641G>A (p.Gly214Glu) n.831G>A | gnomAD v4 |
4 | g.24800162G>C | CA356640402 | SOD3 | c.641G>C (p.Gly214Ala) n.831G>C | gnomAD v4 |
4 | g.24800162G>T | CA356640404 | SOD3 | c.641G>T (p.Gly214Val) n.831G>T | gnomAD v4 |
4 | g.24800163G>A | CA438901699 | SOD3 | c.642G>A (p.Gly214=) n.832G>A | gnomAD v4 |
4 | g.24800163G>C | CA438901700 | SOD3 | c.642G>C (p.Gly214=) n.832G>C | gnomAD v4 |
4 | g.24800163G>T | CA438901701 | SOD3 | c.642G>T (p.Gly214=) n.832G>T | gnomAD v4 |
4 | g.24800164C>A | CA356640406 | SOD3 | c.643C>A (p.Pro215Thr) n.833C>A | gnomAD v4 |
4 | g.24800164C= | CA1445033192 | SOD3 | c.643C= (p.Pro215=) n.833C= | |
4 | g.24800164C>G | CA356640408 | SOD3 | c.643C>G (p.Pro215Ala) n.833C>G | |
4 | g.24800164C>T | CA356640410 | SOD3 | c.643C>T (p.Pro215Ser) n.833C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800166del | CA2670208913 | SOD3 | c.645del (p.Leu217SerfsTer?) n.835del | gnomAD v4 |
4 | g.24800165C>A | CA356640416 | SOD3 | c.644C>A (p.Pro215His) n.834C>A | gnomAD v4 |
4 | g.24800165C>G | CA356640412 | SOD3 | c.644C>G (p.Pro215Arg) n.834C>G | |
4 | g.24800165C>T | CA356640414 | SOD3 | c.644C>T (p.Pro215Leu) n.834C>T | gnomAD v4 |
4 | g.24800166C>A | CA438901707 | SOD3 | c.645C>A (p.Pro215=) n.835C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800166C= | CA1445033195 | SOD3 | c.645C= (p.Pro215=) n.835C= | |
4 | g.24800166C>G | CA94297252 | SOD3 | c.645C>G (p.Pro215=) n.835C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800166C>T | CA438901705 | SOD3 | c.645C>T (p.Pro215=) n.835C>T | gnomAD v4 |
4 | g.24800167G>A | CA356640418 | SOD3 | c.646G>A (p.Gly216Arg) n.836G>A | gnomAD v4 |
4 | g.24800167G>C | CA356640420 | SOD3 | c.646G>C (p.Gly216Arg) n.836G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800167G= | CA1445033198 | SOD3 | c.646G= (p.Gly216=) n.836G= | |
4 | g.24800167G>T | CA356640421 | SOD3 | c.646G>T (p.Gly216Trp) n.836G>T | gnomAD v4 |
4 | g.24800168G>A | CA356640423 | SOD3 | c.647G>A (p.Gly216Glu) n.837G>A | gnomAD v4 |
4 | g.24800168G>C | CA356640425 | SOD3 | c.647G>C (p.Gly216Ala) n.837G>C | |
4 | g.24800168G>T | CA356640427 | SOD3 | c.647G>T (p.Gly216Val) n.837G>T | gnomAD v4 |
4 | g.24800169G>A | CA438901717 | SOD3 | c.648G>A (p.Gly216=) n.838G>A | gnomAD v4 |
4 | g.24800169G>C | CA438901714 | SOD3 | c.648G>C (p.Gly216=) n.838G>C | gnomAD v4 |
4 | g.24800169G>T | CA438901712 | SOD3 | c.648G>T (p.Gly216=) n.838G>T | gnomAD v4 |
4 | g.24800170C>A | CA356640429 | SOD3 | c.649C>A (p.Leu217Ile) n.839C>A | gnomAD v4 |
4 | g.24800170C= | CA1445033200 | SOD3 | c.649C= (p.Leu217=) n.839C= | |
4 | g.24800170C>G | CA356640431 | SOD3 | c.649C>G (p.Leu217Val) n.839C>G | gnomAD v4 |
4 | g.24800170C>T | CA356640433 | SOD3 | c.649C>T (p.Leu217Phe) n.839C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800171T>A | CA356640435 | SOD3 | c.650T>A (p.Leu217His) n.840T>A | |
4 | g.24800171T>C | CA356640437 | SOD3 | c.650T>C (p.Leu217Pro) n.840T>C | gnomAD v4 |
4 | g.24800171T>G | CA356640439 | SOD3 | c.650T>G (p.Leu217Arg) n.840T>G | |
4 | g.24800172C>A | CA438901723 | SOD3 | c.651C>A (p.Leu217=) n.841C>A | gnomAD v4 |
4 | g.24800172C= | CA1445033202 | SOD3 | c.651C= (p.Leu217=) n.841C= | |
4 | g.24800172C>G | CA438901724 | SOD3 | c.651C>G (p.Leu217=) n.841C>G | dbSNP |
4 | g.24800172C>T | CA94297253 | SOD3 | c.651C>T (p.Leu217=) n.841C>T | dbSNP gnomAD v4 |
4 | g.24800173T>A | CA356640443 | SOD3 | c.652T>A (p.Trp218Arg) n.842T>A | |
4 | g.24800173T>C | CA356640445 | SOD3 | c.652T>C (p.Trp218Arg) n.842T>C | gnomAD v4 |
4 | g.24800173T>G | CA356640441 | SOD3 | c.652T>G (p.Trp218Gly) n.842T>G | |
4 | g.24800174G>A | CA356640447 | SOD3 | c.653G>A (p.Trp218Ter) n.843G>A | dbSNP gnomAD v4 |
4 | g.24800174G>C | CA356640450 | SOD3 | c.653G>C (p.Trp218Ser) n.843G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800174G= | CA1445033204 | SOD3 | c.653G= (p.Trp218=) n.843G= | |
4 | g.24800174G>T | CA356640448 | SOD3 | c.653G>T (p.Trp218Leu) n.843G>T | gnomAD v4 |
4 | g.24800176del | CA2670208914 | SOD3 | c.655del (p.Glu219SerfsTer?) n.845del | gnomAD v4 |
4 | g.24800175G>A | CA356640451 | SOD3 | c.654G>A (p.Trp218Ter) n.844G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800175G>C | CA356640453 | SOD3 | c.654G>C (p.Trp218Cys) n.844G>C | dbSNP gnomAD v4 |
4 | g.24800175G= | CA1445033209 | SOD3 | c.654G= (p.Trp218=) n.844G= | |
4 | g.24800175G>T | CA356640454 | SOD3 | c.654G>T (p.Trp218Cys) n.844G>T | gnomAD v4 |
4 | g.24800176G>A | CA356640456 | SOD3 | c.655G>A (p.Glu219Lys) n.845G>A | gnomAD v4 |
4 | g.24800176G>C | CA356640457 | SOD3 | c.655G>C (p.Glu219Gln) n.845G>C | |
4 | g.24800176G>T | CA356640459 | SOD3 | c.655G>T (p.Glu219Ter) n.845G>T | gnomAD v4 |
4 | g.24800177A>C | CA356640461 | SOD3 | c.656A>C (p.Glu219Ala) n.846A>C | |
4 | g.24800177A>G | CA356640463 | SOD3 | c.656A>G (p.Glu219Gly) n.846A>G | dbSNP gnomAD v4 |
4 | g.24800177A>T | CA356640465 | SOD3 | c.656A>T (p.Glu219Val) n.846A>T | |
4 | g.24800178G>A | CA438901734 | SOD3 | c.657G>A (p.Glu219=) n.847G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800178G>C | CA356640467 | SOD3 | c.657G>C (p.Glu219Asp) n.847G>C | |
4 | g.24800178G= | CA1445033213 | SOD3 | c.657G= (p.Glu219=) n.847G= | |
4 | g.24800178G>T | CA356640468 | SOD3 | c.657G>T (p.Glu219Asp) n.847G>T | gnomAD v4 |
4 | g.24800179C>A | CA356640473 | SOD3 | c.658C>A (p.Arg220Ser) n.848C>A | gnomAD v4 |
4 | g.24800179C= | CA1445033216 | SOD3 | c.658C= (p.Arg220=) n.848C= | |
4 | g.24800179C>G | CA356640471 | SOD3 | c.658C>G (p.Arg220Gly) n.848C>G | |
4 | g.24800179C>T | CA2876303 | SOD3 | c.658C>T (p.Arg220Cys) n.848C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24800180G>A | CA356640475 | SOD3 | c.659G>A (p.Arg220His) n.849G>A | gnomAD v4 |
4 | g.24800180G>C | CA356640477 | SOD3 | c.659G>C (p.Arg220Pro) n.849G>C | gnomAD v4 |
4 | g.24800180G= | CA1445033220 | SOD3 | c.659G= (p.Arg220=) n.849G= | |
4 | g.24800180G>T | CA2876304 | SOD3 | c.659G>T (p.Arg220Leu) n.849G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800181C>A | CA438901740 | SOD3 | c.660C>A (p.Arg220=) n.850C>A | gnomAD v4 |
4 | g.24800181C>G | CA438901742 | SOD3 | c.660C>G (p.Arg220=) n.850C>G | |
4 | g.24800181C>T | CA438901744 | SOD3 | c.660C>T (p.Arg220=) n.850C>T | gnomAD v4 |
4 | g.24800182del | CA2670208915 | SOD3 | c.661del (p.Gln221ArgfsTer?) n.851del | gnomAD v4 |
4 | g.24800182C>A | CA356640483 | SOD3 | c.661C>A (p.Gln221Lys) n.851C>A | gnomAD v4 |
4 | g.24800182C= | CA1445033224 | SOD3 | c.661C= (p.Gln221=) n.851C= | |
4 | g.24800182C>G | CA94297254 | SOD3 | c.661C>G (p.Gln221Glu) n.851C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800182C>T | CA356640485 | SOD3 | c.661C>T (p.Gln221Ter) n.851C>T | gnomAD v4 |
4 | g.24800183A= | CA1445033226 | SOD3 | c.662A= (p.Gln221=) n.852A= | |
4 | g.24800183A>C | CA356640488 | SOD3 | c.662A>C (p.Gln221Pro) n.852A>C | gnomAD v4 |
4 | g.24800183A>G | CA94297255 | SOD3 | c.662A>G (p.Gln221Arg) n.852A>G | dbSNP gnomAD v4 |
4 | g.24800183A>T | CA356640490 | SOD3 | c.662A>T (p.Gln221Leu) n.852A>T | gnomAD v4 |
4 | g.24800184G>A | CA438901750 | SOD3 | c.663G>A (p.Gln221=) n.853G>A | gnomAD v4 |
4 | g.24800184G>C | CA356640491 | SOD3 | c.663G>C (p.Gln221His) n.853G>C | gnomAD v4 |
4 | g.24800184G>T | CA356640493 | SOD3 | c.663G>T (p.Gln221His) n.853G>T | gnomAD v4 |
4 | g.24800185G>A | CA356640499 | SOD3 | c.664G>A (p.Ala222Thr) n.854G>A | gnomAD v4 |
4 | g.24800185G>C | CA356640497 | SOD3 | c.664G>C (p.Ala222Pro) n.854G>C | |
4 | g.24800185G>T | CA356640495 | SOD3 | c.664G>T (p.Ala222Ser) n.854G>T | gnomAD v4 |
4 | g.24800186C>A | CA356640501 | SOD3 | c.665C>A (p.Ala222Glu) n.855C>A | gnomAD v4 |
4 | g.24800186C>G | CA356640503 | SOD3 | c.665C>G (p.Ala222Gly) n.855C>G | |
4 | g.24800186C>T | CA356640505 | SOD3 | c.665C>T (p.Ala222Val) n.855C>T | gnomAD v4 |
4 | g.24800187G>A | CA438901752 | SOD3 | c.666G>A (p.Ala222=) n.856G>A | gnomAD v4 |
4 | g.24800187G>C | CA438901754 | SOD3 | c.666G>C (p.Ala222=) n.856G>C | |
4 | g.24800187G>T | CA438901756 | SOD3 | c.666G>T (p.Ala222=) n.856G>T | gnomAD v4 |
4 | g.24800188del | CA2670208916 | SOD3 | c.667del (p.Arg223GlyfsTer?) n.857del | gnomAD v4 |
4 | g.24800188C>A | CA438901757 | SOD3 | c.667C>A (p.Arg223=) n.857C>A | gnomAD v4 |
4 | g.24800188C>G | CA356640507 | SOD3 | c.667C>G (p.Arg223Gly) n.857C>G | |
4 | g.24800188C>T | CA356640508 | SOD3 | c.667C>T (p.Arg223Trp) n.857C>T | gnomAD v4 |
4 | g.24800189G>A | CA356640510 | SOD3 | c.668G>A (p.Arg223Gln) n.858G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800189G>C | CA356640511 | SOD3 | c.668G>C (p.Arg223Pro) n.858G>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800189G= | CA1445033230 | SOD3 | c.668G= (p.Arg223=) n.858G= | |
4 | g.24800189G>T | CA356640513 | SOD3 | c.668G>T (p.Arg223Leu) n.858G>T | dbSNP gnomAD v4 |
4 | g.24800190G>A | CA438901761 | SOD3 | c.669G>A (p.Arg223=) n.859G>A | gnomAD v4 |
4 | g.24800190G>C | CA438901762 | SOD3 | c.669G>C (p.Arg223=) n.859G>C | |
4 | g.24800190G>T | CA438901763 | SOD3 | c.669G>T (p.Arg223=) n.859G>T | gnomAD v4 |
4 | g.24800191G>A | CA356640515 | SOD3 | c.670G>A (p.Glu224Lys) n.860G>A | gnomAD v4 |
4 | g.24800191G>C | CA356640516 | SOD3 | c.670G>C (p.Glu224Gln) n.860G>C | |
4 | g.24800191G= | CA1445033232 | SOD3 | c.670G= (p.Glu224=) n.860G= | |
4 | g.24800191G>T | CA356640518 | SOD3 | c.670G>T (p.Glu224Ter) n.860G>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800192A>C | CA356640521 | SOD3 | c.671A>C (p.Glu224Ala) n.861A>C | |
4 | g.24800192A>G | CA356640522 | SOD3 | c.671A>G (p.Glu224Gly) n.861A>G | dbSNP gnomAD v4 |
4 | g.24800192A>T | CA356640524 | SOD3 | c.671A>T (p.Glu224Val) n.861A>T | |
4 | g.24800193G>A | CA438901770 | SOD3 | c.672G>A (p.Glu224=) n.862G>A | gnomAD v4 |
4 | g.24800193G>C | CA356640527 | SOD3 | c.672G>C (p.Glu224Asp) n.862G>C | |
4 | g.24800193G>T | CA356640528 | SOD3 | c.672G>T (p.Glu224Asp) n.862G>T | gnomAD v4 |
4 | g.24800194C>A | CA356640531 | SOD3 | c.673C>A (p.His225Asn) n.863C>A | gnomAD v4 |
4 | g.24800194C= | CA1445033234 | SOD3 | c.673C= (p.His225=) n.863C= | |
4 | g.24800194C>G | CA356640532 | SOD3 | c.673C>G (p.His225Asp) n.863C>G | |
4 | g.24800194C>T | CA356640534 | SOD3 | c.673C>T (p.His225Tyr) n.863C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800195A>C | CA356640537 | SOD3 | c.674A>C (p.His225Pro) n.864A>C | |
4 | g.24800195A>G | CA356640538 | SOD3 | c.674A>G (p.His225Arg) n.864A>G | gnomAD v4 |
4 | g.24800195A>T | CA356640540 | SOD3 | c.674A>T (p.His225Leu) n.864A>T | gnomAD v4 |
4 | g.24800196C>A | CA356640543 | SOD3 | c.675C>A (p.His225Gln) n.865C>A | gnomAD v4 |
4 | g.24800196C>G | CA356640544 | SOD3 | c.675C>G (p.His225Gln) n.865C>G | |
4 | g.24800196C>T | CA438901775 | SOD3 | c.675C>T (p.His225=) n.865C>T | gnomAD v4 |
4 | g.24800197T>A | CA356640547 | SOD3 | c.676T>A (p.Ser226Thr) n.866T>A | |
4 | g.24800197T>C | CA94297256 | SOD3 | c.676T>C (p.Ser226Pro) n.866T>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800197T>G | CA356640549 | SOD3 | c.676T>G (p.Ser226Ala) n.866T>G | |
4 | g.24800197T= | CA1445033237 | SOD3 | c.676T= (p.Ser226=) n.866T= | |
4 | g.24800198del | CA2670208917 | SOD3 | c.677del (p.Ser226Ter) n.867del | gnomAD v4 |
4 | g.24800198C>A | CA356640551 | SOD3 | c.677C>A (p.Ser226Ter) n.867C>A | gnomAD v4 |
4 | g.24800198C>G | CA356640554 | SOD3 | c.677C>G (p.Ser226Ter) n.867C>G | gnomAD v4 |
4 | g.24800198C>T | CA356640553 | SOD3 | c.677C>T (p.Ser226Leu) n.867C>T | gnomAD v4 |
4 | g.24800198_24800199del | CA2670208918 | SOD3 | c.677_678del (p.Ser226Ter) n.867_868del | gnomAD v4 |
4 | g.24800199A= | CA1445033240 | SOD3 | c.678A= (p.Ser226=) n.868A= | |
4 | g.24800199A>C | CA438901782 | SOD3 | c.678A>C (p.Ser226=) n.868A>C | dbSNP gnomAD v4 |
4 | g.24800199A>G | CA94297257 | SOD3 | c.678A>G (p.Ser226=) n.868A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800199A>T | CA438901780 | SOD3 | c.678A>T (p.Ser226=) n.868A>T | gnomAD v4 |
4 | g.24800201_24800202del | CA2670208919 | SOD3 | c.680_681del (p.Glu227AlafsTer?) n.870_871del | gnomAD v4 |
4 | g.24800200G>A | CA356640557 | SOD3 | c.679G>A (p.Glu227Lys) n.869G>A | |
4 | g.24800200G>C | CA94297258 | SOD3 | c.679G>C (p.Glu227Gln) n.869G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800200G= | CA1445033245 | SOD3 | c.679G= (p.Glu227=) n.869G= | |
4 | g.24800200G>T | CA356640559 | SOD3 | c.679G>T (p.Glu227Ter) n.869G>T | gnomAD v4 |
4 | g.24800201A= | CA1445033248 | SOD3 | c.680A= (p.Glu227=) n.870A= | |
4 | g.24800201A>C | CA356640562 | SOD3 | c.680A>C (p.Glu227Ala) n.870A>C | |
4 | g.24800201A>G | CA356640565 | SOD3 | c.680A>G (p.Glu227Gly) n.870A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800201A>T | CA356640564 | SOD3 | c.680A>T (p.Glu227Val) n.870A>T | gnomAD v4 |
4 | g.24800202G>A | CA438901794 | SOD3 | c.681G>A (p.Glu227=) n.871G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800202G>C | CA356640567 | SOD3 | c.681G>C (p.Glu227Asp) n.871G>C | |
4 | g.24800202G= | CA1445033252 | SOD3 | c.681G= (p.Glu227=) n.871G= | |
4 | g.24800202G>T | CA356640568 | SOD3 | c.681G>T (p.Glu227Asp) n.871G>T | gnomAD v4 COSMIC |
4 | g.24800203C>A | CA356640571 | SOD3 | c.682C>A (p.Arg228Ser) n.872C>A | gnomAD v4 |
4 | g.24800203C= | CA1445033255 | SOD3 | c.682C= (p.Arg228=) n.872C= | |
4 | g.24800203C>G | CA356640573 | SOD3 | c.682C>G (p.Arg228Gly) n.872C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800203C>T | CA356640575 | SOD3 | c.682C>T (p.Arg228Cys) n.872C>T | gnomAD v4 |
4 | g.24800204G>A | CA356640577 | SOD3 | c.683G>A (p.Arg228His) n.873G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800204G>C | CA356640579 | SOD3 | c.683G>C (p.Arg228Pro) n.873G>C | dbSNP gnomAD v4 |
4 | g.24800204G= | CA1445033257 | SOD3 | c.683G= (p.Arg228=) n.873G= | |
4 | g.24800204G>T | CA356640581 | SOD3 | c.683G>T (p.Arg228Leu) n.873G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800205C>A | CA438901801 | SOD3 | c.684C>A (p.Arg228=) n.874C>A | gnomAD v4 |
4 | g.24800205C>G | CA438901805 | SOD3 | c.684C>G (p.Arg228=) n.874C>G | gnomAD v4 |
4 | g.24800205C>T | CA438901803 | SOD3 | c.684C>T (p.Arg228=) n.874C>T | gnomAD v4 |
4 | g.24800206A>C | CA356640582 | SOD3 | c.685A>C (p.Lys229Gln) n.875A>C | |
4 | g.24800206A>G | CA356640584 | SOD3 | c.685A>G (p.Lys229Glu) n.875A>G | gnomAD v4 |
4 | g.24800206A>T | CA356640586 | SOD3 | c.685A>T (p.Lys229Ter) n.875A>T | |
4 | g.24800207del | CA2670208920 | SOD3 | c.686del (p.Lys229ArgfsTer?) n.876del | gnomAD v4 |
4 | g.24800207A>C | CA356640587 | SOD3 | c.686A>C (p.Lys229Thr) n.876A>C | |
4 | g.24800207A>G | CA356640589 | SOD3 | c.686A>G (p.Lys229Arg) n.876A>G | gnomAD v4 |
4 | g.24800207A>T | CA356640591 | SOD3 | c.686A>T (p.Lys229Met) n.876A>T | gnomAD v4 |
4 | g.24800208G>A | CA438901815 | SOD3 | c.687G>A (p.Lys229=) n.877G>A | gnomAD v4 |
4 | g.24800208G>C | CA356640595 | SOD3 | c.687G>C (p.Lys229Asn) n.877G>C | |
4 | g.24800208G>T | CA356640593 | SOD3 | c.687G>T (p.Lys229Asn) n.877G>T | gnomAD v4 |
4 | g.24800209A= | CA1445033261 | SOD3 | c.688A= (p.Lys230=) n.878A= | |
4 | g.24800209A>C | CA94297259 | SOD3 | c.688A>C (p.Lys230Gln) n.878A>C | dbSNP |
4 | g.24800209A>G | CA356640597 | SOD3 | c.688A>G (p.Lys230Glu) n.878A>G | gnomAD v4 |
4 | g.24800209A>T | CA356640599 | SOD3 | c.688A>T (p.Lys230Ter) n.878A>T | |
4 | g.24800210A= | CA1445033263 | SOD3 | c.689A= (p.Lys230=) n.879A= | |
4 | g.24800210A>C | CA356640601 | SOD3 | c.689A>C (p.Lys230Thr) n.879A>C | |
4 | g.24800210A>G | CA94297260 | SOD3 | c.689A>G (p.Lys230Arg) n.879A>G | dbSNP gnomAD v4 |
4 | g.24800210A>T | CA356640604 | SOD3 | c.689A>T (p.Lys230Met) n.879A>T | |
4 | g.24800211G>A | CA438901823 | SOD3 | c.690G>A (p.Lys230=) n.880G>A | gnomAD v4 |
4 | g.24800211G>C | CA356640606 | SOD3 | c.690G>C (p.Lys230Asn) n.880G>C | |
4 | g.24800211G>T | CA356640608 | SOD3 | c.690G>T (p.Lys230Asn) n.880G>T | gnomAD v4 |
4 | g.24800212C>A | CA438901827 | SOD3 | c.691C>A (p.Arg231=) n.881C>A | gnomAD v4 |
4 | g.24800212C= | CA1445033267 | SOD3 | c.691C= (p.Arg231=) n.881C= | |
4 | g.24800212C>G | CA122703 | SOD3 | c.691C>G (p.Arg231Gly) n.881C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800212C>T | CA356640611 | SOD3 | c.691C>T (p.Arg231Trp) n.881C>T | gnomAD v4 |
4 | g.24800213G>A | CA356640613 | SOD3 | c.692G>A (p.Arg231Gln) n.882G>A | gnomAD v4 |
4 | g.24800213G>C | CA356640614 | SOD3 | c.692G>C (p.Arg231Pro) n.882G>C | gnomAD v4 |
4 | g.24800213G= | CA1445033274 | SOD3 | c.692G= (p.Arg231=) n.882G= | |
4 | g.24800213G>T | CA356640616 | SOD3 | c.692G>T (p.Arg231Leu) n.882G>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800214G>A | CA438901833 | SOD3 | c.693G>A (p.Arg231=) n.883G>A | dbSNP gnomAD v4 |
4 | g.24800214G>C | CA438901835 | SOD3 | c.693G>C (p.Arg231=) n.883G>C | |
4 | g.24800214G= | CA1445033276 | SOD3 | c.693G= (p.Arg231=) n.883G= | |
4 | g.24800214G>T | CA438901837 | SOD3 | c.693G>T (p.Arg231=) n.883G>T | dbSNP gnomAD v4 |
4 | g.24800215C>A | CA438901841 | SOD3 | c.694C>A (p.Arg232=) n.884C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800215C= | CA1445033279 | SOD3 | c.694C= (p.Arg232=) n.884C= | |
4 | g.24800215C>G | CA356640618 | SOD3 | c.694C>G (p.Arg232Gly) n.884C>G | gnomAD v4 |
4 | g.24800215C>T | CA356640621 | SOD3 | c.694C>T (p.Arg232Trp) n.884C>T | gnomAD v4 |
4 | g.24800216G>A | CA94297261 | SOD3 | c.695G>A (p.Arg232Gln) n.885G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800216G>C | CA356640623 | SOD3 | c.695G>C (p.Arg232Pro) n.885G>C | gnomAD v4 |
4 | g.24800216G= | CA1445033283 | SOD3 | c.695G= (p.Arg232=) n.885G= | |
4 | g.24800216G>T | CA356640625 | SOD3 | c.695G>T (p.Arg232Leu) n.885G>T | gnomAD v4 |
4 | g.24800217G>A | CA438901846 | SOD3 | c.696G>A (p.Arg232=) n.886G>A | dbSNP gnomAD v4 |
4 | g.24800217G>C | CA438901847 | SOD3 | c.696G>C (p.Arg232=) n.886G>C | |
4 | g.24800217G= | CA1445033284 | SOD3 | c.696G= (p.Arg232=) n.886G= | |
4 | g.24800217G>T | CA438901848 | SOD3 | c.696G>T (p.Arg232=) n.886G>T | gnomAD v4 |
4 | g.24800218C>A | CA356640627 | SOD3 | c.697C>A (p.Arg233Ser) n.887C>A | dbSNP gnomAD v4 |
4 | g.24800218C= | CA1445033286 | SOD3 | c.697C= (p.Arg233=) n.887C= | |
4 | g.24800218C>G | CA356640629 | SOD3 | c.697C>G (p.Arg233Gly) n.887C>G | |
4 | g.24800218C>T | CA356640631 | SOD3 | c.697C>T (p.Arg233Cys) n.887C>T | gnomAD v4 |
4 | g.24800219G>A | CA356640633 | SOD3 | c.698G>A (p.Arg233His) n.888G>A | gnomAD v4 |
4 | g.24800219G>C | CA356640634 | SOD3 | c.698G>C (p.Arg233Pro) n.888G>C | gnomAD v4 |
4 | g.24800219G>T | CA356640636 | SOD3 | c.698G>T (p.Arg233Leu) n.888G>T | gnomAD v4 |
4 | g.24800220C>A | CA2876305 | SOD3 | c.699C>A (p.Arg233=) n.889C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24800220C= | CA1445033287 | SOD3 | c.699C= (p.Arg233=) n.889C= | |
4 | g.24800220C>G | CA438901856 | SOD3 | c.699C>G (p.Arg233=) n.889C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800220C>T | CA438901854 | SOD3 | c.699C>T (p.Arg233=) n.889C>T | gnomAD v4 |
4 | g.24800221G>A | CA356640638 | SOD3 | c.700G>A (p.Glu234Lys) n.890G>A | gnomAD v4 |
4 | g.24800221G>C | CA356640640 | SOD3 | c.700G>C (p.Glu234Gln) n.890G>C | |
4 | g.24800221G= | CA1445033289 | SOD3 | c.700G= (p.Glu234=) n.890G= | |
4 | g.24800221G>T | CA2876306 | SOD3 | c.700G>T (p.Glu234Ter) n.890G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24800222A>C | CA356640643 | SOD3 | c.701A>C (p.Glu234Ala) n.891A>C | |
4 | g.24800222A>G | CA356640647 | SOD3 | c.701A>G (p.Glu234Gly) n.891A>G | gnomAD v4 |
4 | g.24800222A>T | CA356640644 | SOD3 | c.701A>T (p.Glu234Val) n.891A>T | |
4 | g.24800223G>A | CA438901864 | SOD3 | c.702G>A (p.Glu234=) n.892G>A | gnomAD v4 |
4 | g.24800223G>C | CA356640649 | SOD3 | c.702G>C (p.Glu234Asp) n.892G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800223G= | CA1445033293 | SOD3 | c.702G= (p.Glu234=) n.892G= | |
4 | g.24800223G>T | CA356640650 | SOD3 | c.702G>T (p.Glu234Asp) n.892G>T | gnomAD v4 |
4 | g.24800224A>C | CA356640651 | SOD3 | c.703A>C (p.Ser235Arg) n.893A>C | |
4 | g.24800224A>G | CA356640652 | SOD3 | c.703A>G (p.Ser235Gly) n.893A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800224A>T | CA356640653 | SOD3 | c.703A>T (p.Ser235Cys) n.893A>T | |
4 | g.24800225G>A | CA356640655 | SOD3 | c.704G>A (p.Ser235Asn) n.894G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800225G>C | CA356640656 | SOD3 | c.704G>C (p.Ser235Thr) n.894G>C | |
4 | g.24800225G= | CA1445033295 | SOD3 | c.704G= (p.Ser235=) n.894G= | |
4 | g.24800225G>T | CA356640658 | SOD3 | c.704G>T (p.Ser235Ile) n.894G>T | gnomAD v4 |
4 | g.24800226C>A | CA356640660 | SOD3 | c.705C>A (p.Ser235Arg) n.895C>A | gnomAD v4 |
4 | g.24800226C>G | CA356640662 | SOD3 | c.705C>G (p.Ser235Arg) n.895C>G | gnomAD v4 |
4 | g.24800226C>T | CA438901876 | SOD3 | c.705C>T (p.Ser235=) n.895C>T | gnomAD v4 |
4 | g.24800227G>A | CA356640668 | SOD3 | c.706G>A (p.Glu236Lys) n.896G>A | dbSNP gnomAD v4 |
4 | g.24800227G>C | CA356640666 | SOD3 | c.706G>C (p.Glu236Gln) n.896G>C | dbSNP gnomAD v4 |
4 | g.24800227G= | CA1445033298 | SOD3 | c.706G= (p.Glu236=) n.896G= | |
4 | g.24800227G>T | CA356640664 | SOD3 | c.706G>T (p.Glu236Ter) n.896G>T | gnomAD v4 |
4 | g.24800228A= | CA1445033301 | SOD3 | c.707A= (p.Glu236=) n.897A= | |
4 | g.24800228A>C | CA356640670 | SOD3 | c.707A>C (p.Glu236Ala) n.897A>C | |
4 | g.24800228A>G | CA356640674 | SOD3 | c.707A>G (p.Glu236Gly) n.897A>G | dbSNP gnomAD v4 |
4 | g.24800228A>T | CA356640672 | SOD3 | c.707A>T (p.Glu236Val) n.897A>T | |
4 | g.24800229G>A | CA438901878 | SOD3 | c.708G>A (p.Glu236=) n.898G>A | dbSNP gnomAD v4 |
4 | g.24800229G>C | CA356640676 | SOD3 | c.708G>C (p.Glu236Asp) n.898G>C | |
4 | g.24800229G= | CA1445033303 | SOD3 | c.708G= (p.Glu236=) n.898G= | |
4 | g.24800229G>T | CA356640677 | SOD3 | c.708G>T (p.Glu236Asp) n.898G>T | gnomAD v4 |
4 | g.24800230T>A | CA356640680 | SOD3 | c.709T>A (p.Cys237Ser) n.899T>A | gnomAD v4 |
4 | g.24800230T>C | CA356640681 | SOD3 | c.709T>C (p.Cys237Arg) n.899T>C | gnomAD v4 |
4 | g.24800230T>G | CA356640683 | SOD3 | c.709T>G (p.Cys237Gly) n.899T>G | dbSNP gnomAD v4 |
4 | g.24800230T= | CA1445033305 | SOD3 | c.709T= (p.Cys237=) n.899T= | |
4 | g.24800231G>A | CA356640685 | SOD3 | c.710G>A (p.Cys237Tyr) n.900G>A | gnomAD v4 |
4 | g.24800231G>C | CA356640687 | SOD3 | c.710G>C (p.Cys237Ser) n.900G>C | gnomAD v4 |
4 | g.24800231G= | CA1445033309 | SOD3 | c.710G= (p.Cys237=) n.900G= | |
4 | g.24800231G>T | CA356640689 | SOD3 | c.710G>T (p.Cys237Phe) n.900G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800232C>A | CA356640691 | SOD3 | c.711C>A (p.Cys237Ter) n.901C>A | gnomAD v4 |
4 | g.24800232C>G | CA356640693 | SOD3 | c.711C>G (p.Cys237Trp) n.901C>G | gnomAD v4 |
4 | g.24800232C>T | CA438901887 | SOD3 | c.711C>T (p.Cys237=) n.901C>T | gnomAD v4 |
4 | g.24800233A>C | CA356640699 | SOD3 | c.712A>C (p.Lys238Gln) n.902A>C | |
4 | g.24800233A>G | CA356640697 | SOD3 | c.712A>G (p.Lys238Glu) n.902A>G | gnomAD v4 |
4 | g.24800233A>T | CA356640695 | SOD3 | c.712A>T (p.Lys238Ter) n.902A>T | |
4 | g.24800234del | CA2670208921 | SOD3 | c.713del (p.Lys238ArgfsTer?) n.903del | gnomAD v4 |
4 | g.24800234A>C | CA356640702 | SOD3 | c.713A>C (p.Lys238Thr) n.903A>C | gnomAD v4 |
4 | g.24800234A>G | CA356640703 | SOD3 | c.713A>G (p.Lys238Arg) n.903A>G | gnomAD v4 |
4 | g.24800234A>T | CA356640705 | SOD3 | c.713A>T (p.Lys238Met) n.903A>T | gnomAD v4 |
4 | g.24800235G>A | CA438901893 | SOD3 | c.714G>A (p.Lys238=) n.904G>A | gnomAD v4 |
4 | g.24800235G>C | CA356640707 | SOD3 | c.714G>C (p.Lys238Asn) n.904G>C | gnomAD v4 |
4 | g.24800235G>T | CA356640709 | SOD3 | c.714G>T (p.Lys238Asn) n.904G>T | gnomAD v4 |
4 | g.24800236G>A | CA356640711 | SOD3 | c.715G>A (p.Ala239Thr) n.905G>A | gnomAD v4 |
4 | g.24800236G>C | CA356640713 | SOD3 | c.715G>C (p.Ala239Pro) n.905G>C | |
4 | g.24800236G>T | CA356640714 | SOD3 | c.715G>T (p.Ala239Ser) n.905G>T | gnomAD v4 |
4 | g.24800237C>A | CA356640716 | SOD3 | c.716C>A (p.Ala239Asp) n.906C>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800237C= | CA1445033313 | SOD3 | c.716C= (p.Ala239=) n.906C= | |
4 | g.24800237C>G | CA2876307 | SOD3 | c.716C>G (p.Ala239Gly) n.906C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24800237C>T | CA356640719 | SOD3 | c.716C>T (p.Ala239Val) n.906C>T | gnomAD v4 |
4 | g.24800238_24800239insTGTCC | CA2670208922 | SOD3 | c.717_718insTGTCC (p.Ala240CysfsTer?) n.907_908insTGTCC | gnomAD v4 |
4 | g.24800238C>A | CA438901901 | SOD3 | c.717C>A (p.Ala239=) n.907C>A | dbSNP gnomAD v4 |
4 | g.24800238C= | CA1445033317 | SOD3 | c.717C= (p.Ala239=) n.907C= | |
4 | g.24800238C>G | CA438901902 | SOD3 | c.717C>G (p.Ala239=) n.907C>G | gnomAD v4 |
4 | g.24800238C>T | CA438901903 | SOD3 | c.717C>T (p.Ala239=) n.907C>T | dbSNP gnomAD v4 |
4 | g.24800239G>A | CA356640723 | SOD3 | c.718G>A (p.Ala240Thr) n.908G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800239G>C | CA356640726 | SOD3 | c.718G>C (p.Ala240Pro) n.908G>C | |
4 | g.24800239G= | CA1445033318 | SOD3 | c.718G= (p.Ala240=) n.908G= | |
4 | g.24800239G>T | CA356640722 | SOD3 | c.718G>T (p.Ala240Ser) n.908G>T | gnomAD v4 |
4 | g.24800240C>A | CA356640728 | SOD3 | c.719C>A (p.Ala240Asp) n.909C>A | gnomAD v4 |
4 | g.24800240C>G | CA356640730 | SOD3 | c.719C>G (p.Ala240Gly) n.909C>G | |
4 | g.24800240C>T | CA356640732 | SOD3 | c.719C>T (p.Ala240Val) n.909C>T | gnomAD v4 |
4 | g.24800241C>A | CA438901907 | SOD3 | c.720C>A (p.Ala240=) n.910C>A | gnomAD v4 |
4 | g.24800241C= | CA1445033320 | SOD3 | c.720C= (p.Ala240=) n.910C= | |
4 | g.24800241C>G | CA438901908 | SOD3 | c.720C>G (p.Ala240=) n.910C>G | gnomAD v4 |
4 | g.24800241C>T | CA438901906 | SOD3 | c.720C>T (p.Ala240=) n.910C>T | dbSNP gnomAD v4 |
4 | g.24800242T>A | CA356640734 | SOD3 | c.721T>A (p.Ter241Arg) n.911T>A | |
4 | g.24800242T>C | CA356640736 | SOD3 | c.721T>C (p.Ter241Arg) n.911T>C | gnomAD v4 |
4 | g.24800242T>G | CA356640738 | SOD3 | c.721T>G (p.Ter241Gly) n.911T>G | |
4 | g.24800242_24800243insAGGC | CA2670208923 | SOD3 | c.721_722insAGGC (p.Ter241=) n.911_912insAGGC | gnomAD v4 |
4 | g.24800243G>A | CA438901911 | SOD3 | c.722G>A (p.Ter241=) n.912G>A | gnomAD v4 |
4 | g.24800243G>C | CA356640740 | SOD3 | c.722G>C (p.Ter241Ser) n.912G>C | gnomAD v4 |
4 | g.24800243G>T | CA356640742 | SOD3 | c.722G>T (p.Ter241Leu) n.912G>T | gnomAD v4 |
4 | g.24800244A>C | CA356640744 | SOD3 | c.723A>C (p.Ter241Cys) n.913A>C | |
4 | g.24800244A>G | CA356640746 | SOD3 | c.723A>G (p.Ter241Trp) n.913A>G | gnomAD v4 |
4 | g.24800244A>T | CA356640747 | SOD3 | c.723A>T (p.Ter241Cys) n.913A>T | |
4 | g.24800245G>A | CA550665321 | SOD3 | c.*1G>A (n.*1G>A) n.914G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800245G= | CA1445033322 | SOD3 | c.*1G= (n.*1G=) n.914G= | |
4 | g.24800245G>T | CA2670208924 | SOD3 | c.*1G>T (n.*1G>T) n.914G>T | gnomAD v4 |
4 | g.24800246C>A | CA550665322 | SOD3 | c.*2C>A (n.*2C>A) n.915C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800246C= | CA1445033324 | SOD3 | c.*2C= (n.*2C=) n.915C= | |
4 | g.24800246C>G | CA2670208925 | SOD3 | c.*2C>G (n.*2C>G) n.915C>G | gnomAD v4 |
4 | g.24800246C>T | CA2560386860 | SOD3 | c.*2C>T (n.*2C>T) n.915C>T | gnomAD v4 |
4 | g.24800247G>A | CA2670208928 | SOD3 | c.*3G>A (n.*3G>A) n.916G>A | gnomAD v4 |
4 | g.24800247G>C | CA2670208927 | SOD3 | c.*3G>C (n.*3G>C) n.916G>C | gnomAD v4 |
4 | g.24800247G>T | CA2670208926 | SOD3 | c.*3G>T (n.*3G>T) n.916G>T | gnomAD v4 |
4 | g.24800248C>A | CA2670208929 | SOD3 | c.*4C>A (n.*4C>A) n.917C>A | gnomAD v4 |
4 | g.24800248C= | CA1445033328 | SOD3 | c.*4C= (n.*4C=) n.917C= | |
4 | g.24800248C>T | CA793265661 | SOD3 | c.*4C>T (n.*4C>T) n.917C>T | dbSNP gnomAD v4 |
4 | g.24800249G>A | CA2670208930 | SOD3 | c.*5G>A (n.*5G>A) n.918G>A | gnomAD v4 |
4 | g.24800249G>C | CA1060283476 | SOD3 | c.*5G>C (n.*5G>C) n.918G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800249G= | CA1445033330 | SOD3 | c.*5G= (n.*5G=) n.918G= | |
4 | g.24800249G>T | CA2578057461 | SOD3 | c.*5G>T (n.*5G>T) n.918G>T | gnomAD v4 |
4 | g.24800250G>A | CA2670208931 | SOD3 | c.*6G>A (n.*6G>A) n.919G>A | gnomAD v4 |
4 | g.24800250G>C | CA2670208932 | SOD3 | c.*6G>C (n.*6G>C) n.919G>C | gnomAD v4 |
4 | g.24800250G>T | CA2670208933 | SOD3 | c.*6G>T (n.*6G>T) n.919G>T | gnomAD v4 |
4 | g.24800250_24800251delinsGC | CA1445033333 | SOD3 | c.*6_*7delinsGC (n.*6_*7delinsGC) n.919_920delinsGC | |
4 | g.24800251C>A | CA2670208934 | SOD3 | c.*7C>A (n.*7C>A) n.920C>A | gnomAD v4 |
4 | g.24800251C= | CA1445033337 | SOD3 | c.*7C= (n.*7C=) n.920C= | |
4 | g.24800251C>G | CA550665324 | SOD3 | c.*7C>G (n.*7C>G) n.920C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800251C>T | CA2578057462 | SOD3 | c.*7C>T (n.*7C>T) n.920C>T | gnomAD v4 |
4 | g.24800255dup | CA2760767577 | SOD3 | c.*11dup (n.*11dup) n.924dup | |
4 | g.24800255del | CA550665323 | SOD3 | c.*11del (n.*11del) n.924del | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800252C>A | CA2670208935 | SOD3 | c.*8C>A (n.*8C>A) n.921C>A | gnomAD v4 |
4 | g.24800252C>T | CA2670208936 | SOD3 | c.*8C>T (n.*8C>T) n.921C>T | gnomAD v4 |
4 | g.24800253C>A | CA2670208937 | SOD3 | c.*9C>A (n.*9C>A) n.922C>A | gnomAD v4 |
4 | g.24800253C>G | CA2760767578 | SOD3 | c.*9C>G (n.*9C>G) n.922C>G | |
4 | g.24800253C>T | CA2670208938 | SOD3 | c.*9C>T (n.*9C>T) n.922C>T | gnomAD v4 |