22 | g.18078599_18079914del | CA913203502 | PEX26 | c.223_271del
| |
22 | g.18079785_18079793delinsGGAGCTGGA | CA2395403408 | PEX26 | c.231-89_231-81delinsGGAGCTGGA (n.231-89_231-81delinsGGAGCTGGA)
| |
22 | g.18079789_18079796del | CA2395403409 | PEX26 | c.231-85_231-78del (n.231-85_231-78del)
| dbSNP |
22 | g.18079795_18079796del | CA2737689468 | PEX26 | c.231-79_231-78del (n.231-79_231-78del)
| dbSNP |
22 | g.18079793del | CA2577641409 | PEX26 | c.231-81del (n.231-81del)
| |
22 | g.18079793A>G | CA2655186198 | PEX26 | c.231-81A>G (n.231-81A>G)
| gnomAD v4 |
22 | g.18079794G>A | CA751300124 | PEX26 | c.231-80G>A (n.231-80G>A)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079794G= | CA2395403412 | PEX26 | c.231-80G= (n.231-80G=)
| |
22 | g.18079795_18079796delinsAG | CA2395403413 | PEX26 | c.231-79_231-78delinsAG (n.231-79_231-78delinsAG)
| |
22 | g.18079797del | CA751300125 | PEX26 | c.231-77del (n.231-77del)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079797G>A | CA751300126 | PEX26 | c.231-77G>A (n.231-77G>A)
| dbSNP gnomAD v4 |
22 | g.18079797G>C | CA2577641410 | PEX26 | c.231-77G>C (n.231-77G>C)
| |
22 | g.18079797G= | CA2395403414 | PEX26 | c.231-77G= (n.231-77G=)
| |
22 | g.18079797G>T | CA2577641411 | PEX26 | c.231-77G>T (n.231-77G>T)
| gnomAD v4 |
22 | g.18079798A>T | CA2655186208 | PEX26 | c.231-76A>T (n.231-76A>T)
| gnomAD v4 |
22 | g.18079799A>G | CA2577641412 | PEX26 | c.231-75A>G (n.231-75A>G)
| gnomAD v4 |
22 | g.18079800C>A | CA2577641414 | PEX26 | c.231-74C>A (n.231-74C>A)
| gnomAD v4 |
22 | g.18079800C= | CA2395403415 | PEX26 | c.231-74C= (n.231-74C=)
| |
22 | g.18079800C>T | CA751300128 | PEX26 | c.231-74C>T (n.231-74C>T)
| dbSNP gnomAD v4 |
22 | g.18079801_18079804del | CA2577641413 | PEX26 | c.231-73_231-70del (n.231-73_231-70del)
| |
22 | g.18079801A>T | CA2577641415 | PEX26 | c.231-73A>T (n.231-73A>T)
| |
22 | g.18079803T>A | CA2655186221 | PEX26 | c.231-71T>A (n.231-71T>A)
| dbSNP gnomAD v4 |
22 | g.18079803T>C | CA2577641416 | PEX26 | c.231-71T>C (n.231-71T>C)
| gnomAD v4 |
22 | g.18079804C>A | CA1024000485 | PEX26 | c.231-70C>A (n.231-70C>A)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079804C= | CA2395403416 | PEX26 | c.231-70C= (n.231-70C=)
| |
22 | g.18079806C>A | CA2655186224 | PEX26 | c.231-68C>A (n.231-68C>A)
| gnomAD v4 |
22 | g.18079806C>T | CA2577641417 | PEX26 | c.231-68C>T (n.231-68C>T)
| |
22 | g.18079807A>G | CA2737689484 | PEX26 | c.231-67A>G (n.231-67A>G)
| dbSNP |
22 | g.18079810G>A | CA2655186226 | PEX26 | c.231-64G>A (n.231-64G>A)
| gnomAD v4 |
22 | g.18079811T>G | CA2395403418 | PEX26 | c.231-63T>G (n.231-63T>G)
| dbSNP gnomAD v4 |
22 | g.18079811T= | CA2395403417 | PEX26 | c.231-63T= (n.231-63T=)
| |
22 | g.18079812G>A | CA321285219 | PEX26 | c.231-62G>A (n.231-62G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079812G= | CA2395403419 | PEX26 | c.231-62G= (n.231-62G=)
| |
22 | g.18079813G>A | CA321285233 | PEX26 | c.231-61G>A (n.231-61G>A)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079813G= | CA2395403420 | PEX26 | c.231-61G= (n.231-61G=)
| |
22 | g.18079815G>A | CA751300130 | PEX26 | c.231-59G>A (n.231-59G>A)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079815G>C | CA638320256 | PEX26 | c.231-59G>C (n.231-59G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079815G= | CA2395403421 | PEX26 | c.231-59G= (n.231-59G=)
| |
22 | g.18079816G>A | CA2655186242 | PEX26 | c.231-58G>A (n.231-58G>A)
| gnomAD v4 |
22 | g.18079816G>C | CA2655186245 | PEX26 | c.231-58G>C (n.231-58G>C)
| gnomAD v4 |
22 | g.18079817_18079818delinsTG | CA2395403422 | PEX26 | c.231-57_231-56delinsTG (n.231-57_231-56delinsTG)
| |
22 | g.18079818G>T | CA2577641422 | PEX26 | c.231-56G>T (n.231-56G>T)
| |
22 | g.18079820del | CA1024000496 | PEX26 | c.231-54del (n.231-54del)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079822_18079832del | CA2655186251 | PEX26 | c.231-52_231-42del (n.231-52_231-42del)
| gnomAD v4 |
22 | g.18079820G>A | CA2655186257 | PEX26 | c.231-54G>A (n.231-54G>A)
| gnomAD v4 |
22 | g.18079827_18079832dup | CA2655186259 | PEX26 | c.231-47_231-42dup (n.231-47_231-42dup)
| gnomAD v4 |
22 | g.18079822A>G | CA2655186261 | PEX26 | c.231-52A>G (n.231-52A>G)
| gnomAD v4 |
22 | g.18079823T>C | CA751300132 | PEX26 | c.231-51T>C (n.231-51T>C)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079823T= | CA2395403423 | PEX26 | c.231-51T= (n.231-51T=)
| |
22 | g.18079827A= | CA2395403424 | PEX26 | c.231-47A= (n.231-47A=)
| |
22 | g.18079827A>C | CA751300134 | PEX26 | c.231-47A>C (n.231-47A>C)
| dbSNP |
22 | g.18079829T>C | CA10093268 | PEX26 | c.231-45T>C (n.231-45T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18079829T>G | CA10093267 | PEX26 | c.231-45T>G (n.231-45T>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079829T= | CA2395403425 | PEX26 | c.231-45T= (n.231-45T=)
| |
22 | g.18079831G>A | CA10093269 | PEX26 | c.231-43G>A (n.231-43G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18079831G>C | CA10093270 | PEX26 | c.231-43G>C (n.231-43G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18079831G= | CA2395403426 | PEX26 | c.231-43G= (n.231-43G=)
| |
22 | g.18079833G>A | CA2395403427 | PEX26 | c.231-41G>A (n.231-41G>A)
| dbSNP gnomAD v4 |
22 | g.18079833G= | CA2395403428 | PEX26 | c.231-41G= (n.231-41G=)
| |
22 | g.18079833G>T | CA2577641431 | PEX26 | c.231-41G>T (n.231-41G>T)
| |
22 | g.18079834G>A | CA2655186285 | PEX26 | c.231-40G>A (n.231-40G>A)
| gnomAD v4 |
22 | g.18079834G>T | CA2655186284 | PEX26 | c.231-40G>T (n.231-40G>T)
| gnomAD v4 |
22 | g.18079835G>A | CA2395403429 | PEX26 | c.231-39G>A (n.231-39G>A)
| dbSNP gnomAD v4 |
22 | g.18079835G= | CA2395403430 | PEX26 | c.231-39G= (n.231-39G=)
| |
22 | g.18079836G>C | CA751300145 | PEX26 | c.231-38G>C (n.231-38G>C)
| dbSNP |
22 | g.18079836G= | CA2395403431 | PEX26 | c.231-38G= (n.231-38G=)
| |
22 | g.18079836G>T | CA2655186288 | PEX26 | c.231-38G>T (n.231-38G>T)
| gnomAD v4 |
22 | g.18079837A= | CA2395403432 | PEX26 | c.231-37A= (n.231-37A=)
| |
22 | g.18079837A>G | CA10093271 | PEX26 | c.231-37A>G (n.231-37A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079838A>G | CA2577641433 | PEX26 | c.231-36A>G (n.231-36A>G)
| gnomAD v4 |
22 | g.18079839C>A | CA2818335255 | PEX26 | c.231-35C>A (n.231-35C>A)
| |
22 | g.18079839C>T | CA2577641434 | PEX26 | c.231-35C>T (n.231-35C>T)
| |
22 | g.18079840C= | CA2395403433 | PEX26 | c.231-34C= (n.231-34C=)
| |
22 | g.18079840C>G | CA10093272 | PEX26 | c.231-34C>G (n.231-34C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18079842C>T | CA2655186295 | PEX26 | c.231-32C>T (n.231-32C>T)
| gnomAD v4 |
22 | g.18079845C>A | CA10093273 | PEX26 | c.231-29C>A (n.231-29C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079845C= | CA2395403434 | PEX26 | c.231-29C= (n.231-29C=)
| |
22 | g.18079845C>G | CA2655186301 | PEX26 | c.231-29C>G (n.231-29C>G)
| gnomAD v4 |
22 | g.18079845C>T | CA751300149 | PEX26 | c.231-29C>T (n.231-29C>T)
| dbSNP gnomAD v4 |
22 | g.18079848A>G | CA2655186303 | PEX26 | c.231-26A>G (n.231-26A>G)
| gnomAD v4 |
22 | g.18079850T>C | CA638320271 | PEX26 | c.231-24T>C (n.231-24T>C)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18079850T= | CA2395403435 | PEX26 | c.231-24T= (n.231-24T=)
| |
22 | g.18079851G>C | CA321285315 | PEX26 | c.231-23G>C (n.231-23G>C)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18079851G= | CA2395403436 | PEX26 | c.231-23G= (n.231-23G=)
| |
22 | g.18079852A>T | CA2655186314 | PEX26 | c.231-22A>T (n.231-22A>T)
| gnomAD v4 |
22 | g.18079853A>C | CA2655186316 | PEX26 | c.231-21A>C (n.231-21A>C)
| gnomAD v4 |
22 | g.18079855T>C | CA10093274 | PEX26 | c.231-19T>C (n.231-19T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079855T= | CA2395403437 | PEX26 | c.231-19T= (n.231-19T=)
| |
22 | g.18079856T>C | CA2655186324 | PEX26 | c.231-18T>C (n.231-18T>C)
| gnomAD v4 |
22 | g.18079858G>A | CA2655186327 | PEX26 | c.231-16G>A (n.231-16G>A)
| gnomAD v4 |
22 | g.18079858G>T | CA2577641443 | PEX26 | c.231-16G>T (n.231-16G>T)
| ClinVar gnomAD v4 |
22 | g.18079859T>C | CA638320275 | PEX26 | c.231-15T>C (n.231-15T>C)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18079859T>G | CA10093275 | PEX26 | c.231-15T>G (n.231-15T>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079859T= | CA2395403438 | PEX26 | c.231-15T= (n.231-15T=)
| |
22 | g.18079863dup | CA2655186333 | PEX26 | c.231-11dup (n.231-11dup)
| gnomAD v4 |
22 | g.18079862T>C | CA2655186340 | PEX26 | c.231-12T>C (n.231-12T>C)
| gnomAD v4 |
22 | g.18079863T>C | CA2655186342 | PEX26 | c.231-11T>C (n.231-11T>C)
| gnomAD v4 |
22 | g.18079864C>A | CA2740094767 | PEX26 | c.231-10C>A (n.231-10C>A)
| ClinVar |
22 | g.18079864C>T | CA2655186344 | PEX26 | c.231-10C>T (n.231-10C>T)
| gnomAD v4 |
22 | g.18079868T>C | CA2523784072 | PEX26 | c.231-6T>C (n.231-6T>C)
| gnomAD v4 |
22 | g.18079871C>A | CA1024000558 | PEX26 | c.231-3C>A (n.231-3C>A)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079871C= | CA2395403439 | PEX26 | c.231-3C= (n.231-3C=)
| |
22 | g.18079871C>T | CA10093276 | PEX26 | c.231-3C>T (n.231-3C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18079872A>C | CA410265532 | PEX26 | c.231-2A>C (n.231-2A>C)
| gnomAD v4 |
22 | g.18079872A>G | CA410265534 | PEX26 | c.231-2A>G (n.231-2A>G)
| |
22 | g.18079872A>T | CA410265536 | PEX26 | c.231-2A>T (n.231-2A>T)
| |
22 | g.18079873G>A | CA410265538 | PEX26 | c.231-1G>A (n.231-1G>A)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079873G>C | CA410265541 | PEX26 | c.231-1G>C (n.231-1G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079873G= | CA2395403440 | PEX26 | c.231-1G= (n.231-1G=)
| |
22 | g.18079873G>T | CA410265543 | PEX26 | c.231-1G>T (n.231-1G>T)
| |
22 | g.18079874C>A | CA512915290 | PEX26 | c.231C>A (p.Thr77=)
| |
22 | g.18079874C>G | CA512915291 | PEX26 | c.231C>G (p.Thr77=)
| |
22 | g.18079874C>T | CA512915292 | PEX26 | c.231C>T (p.Thr77=)
| |
22 | g.18079874_18079875delinsCT | CA2395403441 | PEX26 | c.231_232delinsCT (p.Thr77=)
| |
22 | g.18079875del | CA1024000564 | PEX26 | c.232del (p.Ser78HisfsTer4)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079875T>A | CA410265546 | PEX26 | c.232T>A (p.Ser78Thr)
| |
22 | g.18079875T>C | CA410265547 | PEX26 | c.232T>C (p.Ser78Pro)
| dbSNP |
22 | g.18079875T>G | CA410265550 | PEX26 | c.232T>G (p.Ser78Ala)
| |
22 | g.18079875T= | CA2395403442 | PEX26 | c.232T= (p.Ser78=)
| |
22 | g.18079876C>A | CA410265553 | PEX26 | c.233C>A (p.Ser78Ter)
| dbSNP |
22 | g.18079876C= | CA2395403443 | PEX26 | c.233C= (p.Ser78=)
| |
22 | g.18079876C>G | CA410265557 | PEX26 | c.233C>G (p.Ser78Ter)
| |
22 | g.18079876C>T | CA410265555 | PEX26 | c.233C>T (p.Ser78Leu)
| gnomAD v4 |
22 | g.18079877A= | CA2395403444 | PEX26 | c.234A= (p.Ser78=)
| |
22 | g.18079877A>C | CA512915296 | PEX26 | c.234A>C (p.Ser78=)
| dbSNP |
22 | g.18079877A>G | CA512915297 | PEX26 | c.234A>G (p.Ser78=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18079877A>T | CA512915298 | PEX26 | c.234A>T (p.Ser78=)
| |
22 | g.18079877_18079878insC | CA1024000567 | PEX26 | c.234_235insC (p.Glu80GlyfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079878T>A | CA410265559 | PEX26 | c.235T>A (p.Leu79Met)
| |
22 | g.18079878T>C | CA512915299 | PEX26 | c.235T>C (p.Leu79=)
| ClinVar dbSNP gnomAD v4 |
22 | g.18079878T>G | CA410265561 | PEX26 | c.235T>G (p.Leu79Val)
| |
22 | g.18079878T= | CA2395403445 | PEX26 | c.235T= (p.Leu79=)
| |
22 | g.18079879del | CA2818335259 | PEX26 | c.236del (p.Leu79TrpfsTer3)
| |
22 | g.18079879T>A | CA410265564 | PEX26 | c.236T>A (p.Leu79Ter)
| |
22 | g.18079879T>C | CA410265566 | PEX26 | c.236T>C (p.Leu79Ser)
| ClinVar gnomAD v4 |
22 | g.18079879T>G | CA410265568 | PEX26 | c.236T>G (p.Leu79Trp)
| |
22 | g.18079880G>A | CA512915300 | PEX26 | c.237G>A (p.Leu79=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18079880G>C | CA410265571 | PEX26 | c.237G>C (p.Leu79Phe)
| ClinVar |
22 | g.18079880G= | CA2395403446 | PEX26 | c.237G= (p.Leu79=)
| |
22 | g.18079880G>T | CA410265572 | PEX26 | c.237G>T (p.Leu79Phe)
| |
22 | g.18079881G>A | CA410265575 | PEX26 | c.238G>A (p.Glu80Lys)
| |
22 | g.18079881G>C | CA410265573 | PEX26 | c.238G>C (p.Glu80Gln)
| |
22 | g.18079881G>T | CA410265574 | PEX26 | c.238G>T (p.Glu80Ter)
| |
22 | g.18079882A= | CA2395403447 | PEX26 | c.239A= (p.Glu80=)
| |
22 | g.18079882A>C | CA410265576 | PEX26 | c.239A>C (p.Glu80Ala)
| |
22 | g.18079882A>G | CA410265577 | PEX26 | c.239A>G (p.Glu80Gly)
| |
22 | g.18079882A>T | CA10093277 | PEX26 | c.239A>T (p.Glu80Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079883G>A | CA512915301 | PEX26 | c.240G>A (p.Glu80=)
| |
22 | g.18079883G>C | CA410265578 | PEX26 | c.240G>C (p.Glu80Asp)
| |
22 | g.18079883G>T | CA410265579 | PEX26 | c.240G>T (p.Glu80Asp)
| |
22 | g.18079884G>A | CA410265580 | PEX26 | c.241G>A (p.Val81Met)
| gnomAD v4 |
22 | g.18079884G>C | CA410265582 | PEX26 | c.241G>C (p.Val81Leu)
| |
22 | g.18079884G>T | CA410265581 | PEX26 | c.241G>T (p.Val81Leu)
| |
22 | g.18079885T>A | CA410265583 | PEX26 | c.242T>A (p.Val81Glu)
| |
22 | g.18079885T>C | CA410265584 | PEX26 | c.242T>C (p.Val81Ala)
| |
22 | g.18079885T>G | CA410265585 | PEX26 | c.242T>G (p.Val81Gly)
| |
22 | g.18079886G>A | CA512915302 | PEX26 | c.243G>A (p.Val81=)
| |
22 | g.18079886G>C | CA512915303 | PEX26 | c.243G>C (p.Val81=)
| |
22 | g.18079886G= | CA2395403448 | PEX26 | c.243G= (p.Val81=)
| |
22 | g.18079886G>T | CA10093278 | PEX26 | c.243G>T (p.Val81=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079887A>C | CA410265586 | PEX26 | c.244A>C (p.Lys82Gln)
| |
22 | g.18079887A>G | CA410265587 | PEX26 | c.244A>G (p.Lys82Glu)
| |
22 | g.18079887A>T | CA410265588 | PEX26 | c.244A>T (p.Lys82Ter)
| |
22 | g.18079888A= | CA2395403449 | PEX26 | c.245A= (p.Lys82=)
| |
22 | g.18079888A>C | CA410265589 | PEX26 | c.245A>C (p.Lys82Thr)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079888A>G | CA10093279 | PEX26 | c.245A>G (p.Lys82Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079888A>T | CA410265590 | PEX26 | c.245A>T (p.Lys82Met)
| |
22 | g.18079889G>A | CA512915304 | PEX26 | c.246G>A (p.Lys82=)
| dbSNP gnomAD v4 |
22 | g.18079889G>C | CA410265591 | PEX26 | c.246G>C (p.Lys82Asn)
| |
22 | g.18079889G= | CA2395403450 | PEX26 | c.246G= (p.Lys82=)
| |
22 | g.18079889G>T | CA410265592 | PEX26 | c.246G>T (p.Lys82Asn)
| |
22 | g.18079890T>A | CA410265595 | PEX26 | c.247T>A (p.Cys83Ser)
| |
22 | g.18079890T>C | CA410265593 | PEX26 | c.247T>C (p.Cys83Arg)
| |
22 | g.18079890T>G | CA410265594 | PEX26 | c.247T>G (p.Cys83Gly)
| |
22 | g.18079891G>A | CA410265596 | PEX26 | c.248G>A (p.Cys83Tyr)
| |
22 | g.18079891G>C | CA410265597 | PEX26 | c.248G>C (p.Cys83Ser)
| |
22 | g.18079891G>T | CA410265598 | PEX26 | c.248G>T (p.Cys83Phe)
| |
22 | g.18079892C>A | CA410265599 | PEX26 | c.249C>A (p.Cys83Ter)
| |
22 | g.18079892C>G | CA410265600 | PEX26 | c.249C>G (p.Cys83Trp)
| |
22 | g.18079892C>T | CA512915305 | PEX26 | c.249C>T (p.Cys83=)
| |
22 | g.18079893T>A | CA410265603 | PEX26 | c.250T>A (p.Ser84Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18079893T>C | CA410265602 | PEX26 | c.250T>C (p.Ser84Pro)
| |
22 | g.18079893T>G | CA410265601 | PEX26 | c.250T>G (p.Ser84Ala)
| dbSNP gnomAD v4 |
22 | g.18079893T= | CA2395403451 | PEX26 | c.250T= (p.Ser84=)
| |