Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.93922892A= | CA1803280772 | PDP1 | c.833A= (p.His278=) c.908A= (p.His303=) c.887A= (p.His296=) c.995A= (p.His332=) | |
8 | g.93922892A>C | CA371694385 | PDP1 | c.833A>C (p.His278Pro) c.908A>C (p.His303Pro) c.887A>C (p.His296Pro) c.995A>C (p.His332Pro) | |
8 | g.93922892A>G | CA181375697 | PDP1 | c.833A>G (p.His278Arg) c.908A>G (p.His303Arg) c.887A>G (p.His296Arg) c.995A>G (p.His332Arg) | dbSNP |
8 | g.93922892A>T | CA371694387 | PDP1 | c.833A>T (p.His278Leu) c.908A>T (p.His303Leu) c.887A>T (p.His296Leu) c.995A>T (p.His332Leu) | COSMIC COSMIC |
8 | g.93922893T>A | CA371694390 | PDP1 | c.834T>A (p.His278Gln) c.909T>A (p.His303Gln) c.888T>A (p.His296Gln) c.996T>A (p.His332Gln) | |
8 | g.93922893T>C | CA462117967 | PDP1 | c.834T>C (p.His278=) c.909T>C (p.His303=) c.888T>C (p.His296=) c.996T>C (p.His332=) | |
8 | g.93922893T>G | CA371694388 | PDP1 | c.834T>G (p.His278Gln) c.909T>G (p.His303Gln) c.888T>G (p.His296Gln) c.996T>G (p.His332Gln) | |
8 | g.93922894G>A | CA371694392 | PDP1 | c.835G>A (p.Val279Met) c.910G>A (p.Val304Met) c.889G>A (p.Val297Met) c.997G>A (p.Val333Met) | |
8 | g.93922894G>C | CA371694394 | PDP1 | c.835G>C (p.Val279Leu) c.910G>C (p.Val304Leu) c.889G>C (p.Val297Leu) c.997G>C (p.Val333Leu) | |
8 | g.93922894G>T | CA371694395 | PDP1 | c.835G>T (p.Val279Leu) c.910G>T (p.Val304Leu) c.889G>T (p.Val297Leu) c.997G>T (p.Val333Leu) | |
8 | g.93922895T>A | CA371694397 | PDP1 | c.836T>A (p.Val279Glu) c.911T>A (p.Val304Glu) c.890T>A (p.Val297Glu) c.998T>A (p.Val333Glu) | |
8 | g.93922895T>C | CA371694398 | PDP1 | c.836T>C (p.Val279Ala) c.911T>C (p.Val304Ala) c.890T>C (p.Val297Ala) c.998T>C (p.Val333Ala) | |
8 | g.93922895T>G | CA371694400 | PDP1 | c.836T>G (p.Val279Gly) c.911T>G (p.Val304Gly) c.890T>G (p.Val297Gly) c.998T>G (p.Val333Gly) | |
8 | g.93922896G>A | CA462117969 | PDP1 | c.837G>A (p.Val279=) c.912G>A (p.Val304=) c.891G>A (p.Val297=) c.999G>A (p.Val333=) | |
8 | g.93922896G>C | CA462117970 | PDP1 | c.837G>C (p.Val279=) c.912G>C (p.Val304=) c.891G>C (p.Val297=) c.999G>C (p.Val333=) | |
8 | g.93922896G>T | CA462117971 | PDP1 | c.837G>T (p.Val279=) c.912G>T (p.Val304=) c.891G>T (p.Val297=) c.999G>T (p.Val333=) | |
8 | g.93922897G>A | CA371694405 | PDP1 | c.838G>A (p.Asp280Asn) c.913G>A (p.Asp305Asn) c.892G>A (p.Asp298Asn) c.1000G>A (p.Asp334Asn) | |
8 | g.93922897G>C | CA371694402 | PDP1 | c.838G>C (p.Asp280His) c.913G>C (p.Asp305His) c.892G>C (p.Asp298His) c.1000G>C (p.Asp334His) | |
8 | g.93922897G>T | CA371694403 | PDP1 | c.838G>T (p.Asp280Tyr) c.913G>T (p.Asp305Tyr) c.892G>T (p.Asp298Tyr) c.1000G>T (p.Asp334Tyr) | gnomAD v4 |
8 | g.93922898A>C | CA371694407 | PDP1 | c.839A>C (p.Asp280Ala) c.914A>C (p.Asp305Ala) c.893A>C (p.Asp298Ala) c.1001A>C (p.Asp334Ala) | |
8 | g.93922898A>G | CA371694408 | PDP1 | c.839A>G (p.Asp280Gly) c.914A>G (p.Asp305Gly) c.893A>G (p.Asp298Gly) c.1001A>G (p.Asp334Gly) | |
8 | g.93922898A>T | CA371694409 | PDP1 | c.839A>T (p.Asp280Val) c.914A>T (p.Asp305Val) c.893A>T (p.Asp298Val) c.1001A>T (p.Asp334Val) | gnomAD v4 |
8 | g.93922898_93922904delinsATGGTGT | CA1803280773 | PDP1 | c.839_845delinsATGGTGT (p.Asp280=) c.914_920delinsATGGTGT (p.Asp305=) c.893_899delinsATGGTGT (p.Asp298=) c.1001_1007delinsATGGTGT (p.Asp334=) | |
8 | g.93922899T>A | CA371694411 | PDP1 | c.840T>A (p.Asp280Glu) c.915T>A (p.Asp305Glu) c.894T>A (p.Asp298Glu) c.1002T>A (p.Asp334Glu) | |
8 | g.93922899T>C | CA462117974 | PDP1 | c.840T>C (p.Asp280=) c.915T>C (p.Asp305=) c.894T>C (p.Asp298=) c.1002T>C (p.Asp334=) | |
8 | g.93922899T>G | CA371694412 | PDP1 | c.840T>G (p.Asp280Glu) c.915T>G (p.Asp305Glu) c.894T>G (p.Asp298Glu) c.1002T>G (p.Asp334Glu) | |
8 | g.93922901_93922906del | CA1803280774 | PDP1 | c.842_847del (p.Gly281_Val282del) c.917_922del (p.Gly306_Val307del) c.896_901del (p.Gly299_Val300del) c.1004_1009del (p.Gly335_Val336del) | dbSNP |
8 | g.93922900G>A | CA371694417 | PDP1 | c.841G>A (p.Gly281Ser) c.916G>A (p.Gly306Ser) c.895G>A (p.Gly299Ser) c.1003G>A (p.Gly335Ser) | COSMIC COSMIC |
8 | g.93922900G>C | CA371694414 | PDP1 | c.841G>C (p.Gly281Arg) c.916G>C (p.Gly306Arg) c.895G>C (p.Gly299Arg) c.1003G>C (p.Gly335Arg) | |
8 | g.93922900G>T | CA371694415 | PDP1 | c.841G>T (p.Gly281Cys) c.916G>T (p.Gly306Cys) c.895G>T (p.Gly299Cys) c.1003G>T (p.Gly335Cys) | |
8 | g.93922901G>A | CA371694419 | PDP1 | c.842G>A (p.Gly281Asp) c.917G>A (p.Gly306Asp) c.896G>A (p.Gly299Asp) c.1004G>A (p.Gly335Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922901G>C | CA371694422 | PDP1 | c.842G>C (p.Gly281Ala) c.917G>C (p.Gly306Ala) c.896G>C (p.Gly299Ala) c.1004G>C (p.Gly335Ala) | |
8 | g.93922901G= | CA1803280775 | PDP1 | c.842G= (p.Gly281=) c.917G= (p.Gly306=) c.896G= (p.Gly299=) c.1004G= (p.Gly335=) | |
8 | g.93922901G>T | CA371694420 | PDP1 | c.842G>T (p.Gly281Val) c.917G>T (p.Gly306Val) c.896G>T (p.Gly299Val) c.1004G>T (p.Gly335Val) | gnomAD v4 |
8 | g.93922902T>A | CA462117976 | PDP1 | c.843T>A (p.Gly281=) c.918T>A (p.Gly306=) c.897T>A (p.Gly299=) c.1005T>A (p.Gly335=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922902T>C | CA462117977 | PDP1 | c.843T>C (p.Gly281=) c.918T>C (p.Gly306=) c.897T>C (p.Gly299=) c.1005T>C (p.Gly335=) | |
8 | g.93922902T>G | CA462117978 | PDP1 | c.843T>G (p.Gly281=) c.918T>G (p.Gly306=) c.897T>G (p.Gly299=) c.1005T>G (p.Gly335=) | dbSNP |
8 | g.93922902T= | CA1803280776 | PDP1 | c.843T= (p.Gly281=) c.918T= (p.Gly306=) c.897T= (p.Gly299=) c.1005T= (p.Gly335=) | |
8 | g.93922903G>A | CA371694424 | PDP1 | c.844G>A (p.Val282Ile) c.919G>A (p.Val307Ile) c.898G>A (p.Val300Ile) c.1006G>A (p.Val336Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922903G>C | CA371694426 | PDP1 | c.844G>C (p.Val282Leu) c.919G>C (p.Val307Leu) c.898G>C (p.Val300Leu) c.1006G>C (p.Val336Leu) | |
8 | g.93922903G= | CA1803280777 | PDP1 | c.844G= (p.Val282=) c.919G= (p.Val307=) c.898G= (p.Val300=) c.1006G= (p.Val336=) | |
8 | g.93922903G>T | CA371694427 | PDP1 | c.844G>T (p.Val282Phe) c.919G>T (p.Val307Phe) c.898G>T (p.Val300Phe) c.1006G>T (p.Val336Phe) | gnomAD v4 |
8 | g.93922904T>A | CA371694428 | PDP1 | c.845T>A (p.Val282Asp) c.920T>A (p.Val307Asp) c.899T>A (p.Val300Asp) c.1007T>A (p.Val336Asp) | |
8 | g.93922904T>C | CA371694429 | PDP1 | c.845T>C (p.Val282Ala) c.920T>C (p.Val307Ala) c.899T>C (p.Val300Ala) c.1007T>C (p.Val336Ala) | |
8 | g.93922904T>G | CA371694430 | PDP1 | c.845T>G (p.Val282Gly) c.920T>G (p.Val307Gly) c.899T>G (p.Val300Gly) c.1007T>G (p.Val336Gly) | |
8 | g.93922905T>A | CA462117982 | PDP1 | c.846T>A (p.Val282=) c.921T>A (p.Val307=) c.900T>A (p.Val300=) c.1008T>A (p.Val336=) | |
8 | g.93922905T>C | CA462117981 | PDP1 | c.846T>C (p.Val282=) c.921T>C (p.Val307=) c.900T>C (p.Val300=) c.1008T>C (p.Val336=) | |
8 | g.93922905T>G | CA462117980 | PDP1 | c.846T>G (p.Val282=) c.921T>G (p.Val307=) c.900T>G (p.Val300=) c.1008T>G (p.Val336=) | COSMIC |
8 | g.93922906G>A | CA371694431 | PDP1 | c.847G>A (p.Asp283Asn) c.922G>A (p.Asp308Asn) c.901G>A (p.Asp301Asn) c.1009G>A (p.Asp337Asn) | |
8 | g.93922906G>C | CA371694432 | PDP1 | c.847G>C (p.Asp283His) c.922G>C (p.Asp308His) c.901G>C (p.Asp301His) c.1009G>C (p.Asp337His) | gnomAD v4 |
8 | g.93922906G= | CA1803280778 | PDP1 | c.847G= (p.Asp283=) c.922G= (p.Asp308=) c.901G= (p.Asp301=) c.1009G= (p.Asp337=) | |
8 | g.93922906G>T | CA4808748 | PDP1 | c.847G>T (p.Asp283Tyr) c.922G>T (p.Asp308Tyr) c.901G>T (p.Asp301Tyr) c.1009G>T (p.Asp337Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922907A= | CA1803280779 | PDP1 | c.848A= (p.Asp283=) c.923A= (p.Asp308=) c.902A= (p.Asp301=) c.1010A= (p.Asp337=) | |
8 | g.93922907A>C | CA371694433 | PDP1 | c.848A>C (p.Asp283Ala) c.923A>C (p.Asp308Ala) c.902A>C (p.Asp301Ala) c.1010A>C (p.Asp337Ala) | |
8 | g.93922907A>G | CA371694434 | PDP1 | c.848A>G (p.Asp283Gly) c.923A>G (p.Asp308Gly) c.902A>G (p.Asp301Gly) c.1010A>G (p.Asp337Gly) | |
8 | g.93922907A>T | CA371694436 | PDP1 | c.848A>T (p.Asp283Val) c.923A>T (p.Asp308Val) c.902A>T (p.Asp301Val) c.1010A>T (p.Asp337Val) | |
8 | g.93922908C>A | CA371694437 | PDP1 | c.849C>A (p.Asp283Glu) c.924C>A (p.Asp308Glu) c.903C>A (p.Asp301Glu) c.1011C>A (p.Asp337Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922908C= | CA1803280782 | PDP1 | c.849C= (p.Asp283=) c.924C= (p.Asp308=) c.903C= (p.Asp301=) c.1011C= (p.Asp337=) | |
8 | g.93922908C>G | CA371694439 | PDP1 | c.849C>G (p.Asp283Glu) c.924C>G (p.Asp308Glu) c.903C>G (p.Asp301Glu) c.1011C>G (p.Asp337Glu) | |
8 | g.93922908C>T | CA462117984 | PDP1 | c.849C>T (p.Asp283=) c.924C>T (p.Asp308=) c.903C>T (p.Asp301=) c.1011C>T (p.Asp337=) | dbSNP |
8 | g.93922908_93922909insACCATC | CA1803280780 | PDP1 | c.849_850insACCATC (p.Asp283_Leu284insThrIle) c.924_925insACCATC (p.Asp308_Leu309insThrIle) c.903_904insACCATC (p.Asp301_Leu302insThrIle) c.1011_1012insACCATC (p.Asp337_Leu338insThrIle) | dbSNP |
8 | g.93922908_93922911delinsCCTT | CA1803280781 | PDP1 | c.849_852delinsCCTT (p.Asp283=) c.924_927delinsCCTT (p.Asp308=) c.903_906delinsCCTT (p.Asp301=) c.1011_1014delinsCCTT (p.Asp337=) | |
8 | g.93922909C>A | CA371694440 | PDP1 | c.850C>A (p.Leu284Ile) c.925C>A (p.Leu309Ile) c.904C>A (p.Leu302Ile) c.1012C>A (p.Leu338Ile) | |
8 | g.93922909C= | CA1803280783 | PDP1 | c.850C= (p.Leu284=) c.925C= (p.Leu309=) c.904C= (p.Leu302=) c.1012C= (p.Leu338=) | |
8 | g.93922909C>G | CA371694442 | PDP1 | c.850C>G (p.Leu284Val) c.925C>G (p.Leu309Val) c.904C>G (p.Leu302Val) c.1012C>G (p.Leu338Val) | |
8 | g.93922909C>T | CA371694443 | PDP1 | c.850C>T (p.Leu284Phe) c.925C>T (p.Leu309Phe) c.904C>T (p.Leu302Phe) c.1012C>T (p.Leu338Phe) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922910_93922912del | CA658683537 | PDP1 | c.851_853del (p.Leu284del) c.926_928del (p.Leu309del) c.905_907del (p.Leu302del) c.1013_1015del (p.Leu338del) | ClinVar dbSNP |
8 | g.93922910T>A | CA371694445 | PDP1 | c.851T>A (p.Leu284His) c.926T>A (p.Leu309His) c.905T>A (p.Leu302His) c.1013T>A (p.Leu338His) | |
8 | g.93922910T>C | CA371694447 | PDP1 | c.851T>C (p.Leu284Pro) c.926T>C (p.Leu309Pro) c.905T>C (p.Leu302Pro) c.1013T>C (p.Leu338Pro) | |
8 | g.93922910T>G | CA371694448 | PDP1 | c.851T>G (p.Leu284Arg) c.926T>G (p.Leu309Arg) c.905T>G (p.Leu302Arg) c.1013T>G (p.Leu338Arg) | |
8 | g.93922911T>A | CA462117985 | PDP1 | c.852T>A (p.Leu284=) c.927T>A (p.Leu309=) c.906T>A (p.Leu302=) c.1014T>A (p.Leu338=) | |
8 | g.93922911T>C | CA462117987 | PDP1 | c.852T>C (p.Leu284=) c.927T>C (p.Leu309=) c.906T>C (p.Leu302=) c.1014T>C (p.Leu338=) | |
8 | g.93922911T>G | CA462117986 | PDP1 | c.852T>G (p.Leu284=) c.927T>G (p.Leu309=) c.906T>G (p.Leu302=) c.1014T>G (p.Leu338=) | |
8 | g.93922912C>A | CA371694450 | PDP1 | c.853C>A (p.His285Asn) c.928C>A (p.His310Asn) c.907C>A (p.His303Asn) c.1015C>A (p.His339Asn) | |
8 | g.93922912C>G | CA371694452 | PDP1 | c.853C>G (p.His285Asp) c.928C>G (p.His310Asp) c.907C>G (p.His303Asp) c.1015C>G (p.His339Asp) | |
8 | g.93922912C>T | CA371694453 | PDP1 | c.853C>T (p.His285Tyr) c.928C>T (p.His310Tyr) c.907C>T (p.His303Tyr) c.1015C>T (p.His339Tyr) | gnomAD v4 |
8 | g.93922913A>C | CA371694455 | PDP1 | c.854A>C (p.His285Pro) c.929A>C (p.His310Pro) c.908A>C (p.His303Pro) c.1016A>C (p.His339Pro) | |
8 | g.93922913A>G | CA371694456 | PDP1 | c.854A>G (p.His285Arg) c.929A>G (p.His310Arg) c.908A>G (p.His303Arg) c.1016A>G (p.His339Arg) | |
8 | g.93922913A>T | CA371694457 | PDP1 | c.854A>T (p.His285Leu) c.929A>T (p.His310Leu) c.908A>T (p.His303Leu) c.1016A>T (p.His339Leu) | |
8 | g.93922914T>A | CA371694462 | PDP1 | c.855T>A (p.His285Gln) c.930T>A (p.His310Gln) c.909T>A (p.His303Gln) c.1017T>A (p.His339Gln) | |
8 | g.93922914T>C | CA4808749 | PDP1 | c.855T>C (p.His285=) c.930T>C (p.His310=) c.909T>C (p.His303=) c.1017T>C (p.His339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.93922914T>G | CA371694460 | PDP1 | c.855T>G (p.His285Gln) c.930T>G (p.His310Gln) c.909T>G (p.His303Gln) c.1017T>G (p.His339Gln) | |
8 | g.93922914T= | CA1803280784 | PDP1 | c.855T= (p.His285=) c.930T= (p.His310=) c.909T= (p.His303=) c.1017T= (p.His339=) | |
8 | g.93922915G>A | CA371694463 | PDP1 | c.856G>A (p.Val286Met) c.931G>A (p.Val311Met) c.910G>A (p.Val304Met) c.1018G>A (p.Val340Met) | dbSNP |
8 | g.93922915G>C | CA371694466 | PDP1 | c.856G>C (p.Val286Leu) c.931G>C (p.Val311Leu) c.910G>C (p.Val304Leu) c.1018G>C (p.Val340Leu) | |
8 | g.93922915G= | CA1803280785 | PDP1 | c.856G= (p.Val286=) c.931G= (p.Val311=) c.910G= (p.Val304=) c.1018G= (p.Val340=) | |
8 | g.93922915G>T | CA371694464 | PDP1 | c.856G>T (p.Val286Leu) c.931G>T (p.Val311Leu) c.910G>T (p.Val304Leu) c.1018G>T (p.Val340Leu) | |
8 | g.93922916T>A | CA371694468 | PDP1 | c.857T>A (p.Val286Glu) c.932T>A (p.Val311Glu) c.911T>A (p.Val304Glu) c.1019T>A (p.Val340Glu) | |
8 | g.93922916T>C | CA371694470 | PDP1 | c.857T>C (p.Val286Ala) c.932T>C (p.Val311Ala) c.911T>C (p.Val304Ala) c.1019T>C (p.Val340Ala) | |
8 | g.93922916T>G | CA371694471 | PDP1 | c.857T>G (p.Val286Gly) c.932T>G (p.Val311Gly) c.911T>G (p.Val304Gly) c.1019T>G (p.Val340Gly) | |
8 | g.93922917G>A | CA462117991 | PDP1 | c.858G>A (p.Val286=) c.933G>A (p.Val311=) c.912G>A (p.Val304=) c.1020G>A (p.Val340=) | |
8 | g.93922917G>C | CA462117992 | PDP1 | c.858G>C (p.Val286=) c.933G>C (p.Val311=) c.912G>C (p.Val304=) c.1020G>C (p.Val340=) | |
8 | g.93922917G>T | CA462117993 | PDP1 | c.858G>T (p.Val286=) c.933G>T (p.Val311=) c.912G>T (p.Val304=) c.1020G>T (p.Val340=) | |
8 | g.93922918del | CA2687927844 | PDP1 | c.859del (p.Ala287ProfsTer?) c.934del (p.Ala312ProfsTer?) c.913del (p.Ala305ProfsTer?) c.1021del (p.Ala341ProfsTer?) | gnomAD v4 |
8 | g.93922918G>A | CA371694474 | PDP1 | c.859G>A (p.Ala287Thr) c.934G>A (p.Ala312Thr) c.913G>A (p.Ala305Thr) c.1021G>A (p.Ala341Thr) | |
8 | g.93922918G>C | CA371694475 | PDP1 | c.859G>C (p.Ala287Pro) c.934G>C (p.Ala312Pro) c.913G>C (p.Ala305Pro) c.1021G>C (p.Ala341Pro) | |
8 | g.93922918G>T | CA371694476 | PDP1 | c.859G>T (p.Ala287Ser) c.934G>T (p.Ala312Ser) c.913G>T (p.Ala305Ser) c.1021G>T (p.Ala341Ser) | |
8 | g.93922919C>A | CA371694478 | PDP1 | c.860C>A (p.Ala287Asp) c.935C>A (p.Ala312Asp) c.914C>A (p.Ala305Asp) c.1022C>A (p.Ala341Asp) | |
8 | g.93922919C>G | CA371694480 | PDP1 | c.860C>G (p.Ala287Gly) c.935C>G (p.Ala312Gly) c.914C>G (p.Ala305Gly) c.1022C>G (p.Ala341Gly) | |
8 | g.93922919C>T | CA371694481 | PDP1 | c.860C>T (p.Ala287Val) c.935C>T (p.Ala312Val) c.914C>T (p.Ala305Val) c.1022C>T (p.Ala341Val) | |
8 | g.93922920C>A | CA462117995 | PDP1 | c.861C>A (p.Ala287=) c.936C>A (p.Ala312=) c.915C>A (p.Ala305=) c.1023C>A (p.Ala341=) | |
8 | g.93922920C>G | CA462117996 | PDP1 | c.861C>G (p.Ala287=) c.936C>G (p.Ala312=) c.915C>G (p.Ala305=) c.1023C>G (p.Ala341=) | |
8 | g.93922920C>T | CA462117997 | PDP1 | c.861C>T (p.Ala287=) c.936C>T (p.Ala312=) c.915C>T (p.Ala305=) c.1023C>T (p.Ala341=) | |
8 | g.93922921A>C | CA371694483 | PDP1 | c.862A>C (p.Asn288His) c.937A>C (p.Asn313His) c.916A>C (p.Asn306His) c.1024A>C (p.Asn342His) | |
8 | g.93922921A>G | CA371694484 | PDP1 | c.862A>G (p.Asn288Asp) c.937A>G (p.Asn313Asp) c.916A>G (p.Asn306Asp) c.1024A>G (p.Asn342Asp) | |
8 | g.93922921A>T | CA371694486 | PDP1 | c.862A>T (p.Asn288Tyr) c.937A>T (p.Asn313Tyr) c.916A>T (p.Asn306Tyr) c.1024A>T (p.Asn342Tyr) | |
8 | g.93922922A= | CA1803280786 | PDP1 | c.863A= (p.Asn288=) c.938A= (p.Asn313=) c.917A= (p.Asn306=) c.1025A= (p.Asn342=) | |
8 | g.93922922A>C | CA371694491 | PDP1 | c.863A>C (p.Asn288Thr) c.938A>C (p.Asn313Thr) c.917A>C (p.Asn306Thr) c.1025A>C (p.Asn342Thr) | gnomAD v4 |
8 | g.93922922A>G | CA4808750 | PDP1 | c.863A>G (p.Asn288Ser) c.938A>G (p.Asn313Ser) c.917A>G (p.Asn306Ser) c.1025A>G (p.Asn342Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922922A>T | CA371694489 | PDP1 | c.863A>T (p.Asn288Ile) c.938A>T (p.Asn313Ile) c.917A>T (p.Asn306Ile) c.1025A>T (p.Asn342Ile) | |
8 | g.93922923T>A | CA371694493 | PDP1 | c.864T>A (p.Asn288Lys) c.939T>A (p.Asn313Lys) c.918T>A (p.Asn306Lys) c.1026T>A (p.Asn342Lys) | |
8 | g.93922923T>C | CA462118001 | PDP1 | c.864T>C (p.Asn288=) c.939T>C (p.Asn313=) c.918T>C (p.Asn306=) c.1026T>C (p.Asn342=) | gnomAD v4 |
8 | g.93922923T>G | CA371694494 | PDP1 | c.864T>G (p.Asn288Lys) c.939T>G (p.Asn313Lys) c.918T>G (p.Asn306Lys) c.1026T>G (p.Asn342Lys) | |
8 | g.93922924A>C | CA371694496 | PDP1 | c.865A>C (p.Thr289Pro) c.940A>C (p.Thr314Pro) c.919A>C (p.Thr307Pro) c.1027A>C (p.Thr343Pro) | |
8 | g.93922924A>G | CA371694498 | PDP1 | c.865A>G (p.Thr289Ala) c.940A>G (p.Thr314Ala) c.919A>G (p.Thr307Ala) c.1027A>G (p.Thr343Ala) | |
8 | g.93922924A>T | CA371694499 | PDP1 | c.865A>T (p.Thr289Ser) c.940A>T (p.Thr314Ser) c.919A>T (p.Thr307Ser) c.1027A>T (p.Thr343Ser) | |
8 | g.93922925C>A | CA371694501 | PDP1 | c.866C>A (p.Thr289Asn) c.941C>A (p.Thr314Asn) c.920C>A (p.Thr307Asn) c.1028C>A (p.Thr343Asn) | |
8 | g.93922925C= | CA1803280787 | PDP1 | c.866C= (p.Thr289=) c.941C= (p.Thr314=) c.920C= (p.Thr307=) c.1028C= (p.Thr343=) | |
8 | g.93922925C>G | CA371694502 | PDP1 | c.866C>G (p.Thr289Ser) c.941C>G (p.Thr314Ser) c.920C>G (p.Thr307Ser) c.1028C>G (p.Thr343Ser) | |
8 | g.93922925C>T | CA371694504 | PDP1 | c.866C>T (p.Thr289Ile) c.941C>T (p.Thr314Ile) c.920C>T (p.Thr307Ile) c.1028C>T (p.Thr343Ile) | dbSNP |
8 | g.93922926T>A | CA462118005 | PDP1 | c.867T>A (p.Thr289=) c.942T>A (p.Thr314=) c.921T>A (p.Thr307=) c.1029T>A (p.Thr343=) | |
8 | g.93922926T>C | CA462118004 | PDP1 | c.867T>C (p.Thr289=) c.942T>C (p.Thr314=) c.921T>C (p.Thr307=) c.1029T>C (p.Thr343=) | dbSNP gnomAD v4 |
8 | g.93922926T>G | CA462118003 | PDP1 | c.867T>G (p.Thr289=) c.942T>G (p.Thr314=) c.921T>G (p.Thr307=) c.1029T>G (p.Thr343=) | |
8 | g.93922926T= | CA1803280788 | PDP1 | c.867T= (p.Thr289=) c.942T= (p.Thr314=) c.921T= (p.Thr307=) c.1029T= (p.Thr343=) | |
8 | g.93922927G>A | CA371694506 | PDP1 | c.868G>A (p.Gly290Ser) c.943G>A (p.Gly315Ser) c.922G>A (p.Gly308Ser) c.1030G>A (p.Gly344Ser) | |
8 | g.93922927G>C | CA371694508 | PDP1 | c.868G>C (p.Gly290Arg) c.943G>C (p.Gly315Arg) c.922G>C (p.Gly308Arg) c.1030G>C (p.Gly344Arg) | |
8 | g.93922927G>T | CA371694509 | PDP1 | c.868G>T (p.Gly290Cys) c.943G>T (p.Gly315Cys) c.922G>T (p.Gly308Cys) c.1030G>T (p.Gly344Cys) | |
8 | g.93922928G>A | CA371694514 | PDP1 | c.869G>A (p.Gly290Asp) c.944G>A (p.Gly315Asp) c.923G>A (p.Gly308Asp) c.1031G>A (p.Gly344Asp) | |
8 | g.93922928G>C | CA371694513 | PDP1 | c.869G>C (p.Gly290Ala) c.944G>C (p.Gly315Ala) c.923G>C (p.Gly308Ala) c.1031G>C (p.Gly344Ala) | |
8 | g.93922928G>T | CA371694511 | PDP1 | c.869G>T (p.Gly290Val) c.944G>T (p.Gly315Val) c.923G>T (p.Gly308Val) c.1031G>T (p.Gly344Val) | |
8 | g.93922929C>A | CA462118008 | PDP1 | c.870C>A (p.Gly290=) c.945C>A (p.Gly315=) c.924C>A (p.Gly308=) c.1032C>A (p.Gly344=) | gnomAD v4 |
8 | g.93922929C= | CA1803280789 | PDP1 | c.870C= (p.Gly290=) c.945C= (p.Gly315=) c.924C= (p.Gly308=) c.1032C= (p.Gly344=) | |
8 | g.93922929C>G | CA462118009 | PDP1 | c.870C>G (p.Gly290=) c.945C>G (p.Gly315=) c.924C>G (p.Gly308=) c.1032C>G (p.Gly344=) | |
8 | g.93922929C>T | CA4808751 | PDP1 | c.870C>T (p.Gly290=) c.945C>T (p.Gly315=) c.924C>T (p.Gly308=) c.1032C>T (p.Gly344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922930G>A | CA4808752 | PDP1 | c.871G>A (p.Asp291Asn) c.946G>A (p.Asp316Asn) c.925G>A (p.Asp309Asn) c.1033G>A (p.Asp345Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922930G>C | CA371694517 | PDP1 | c.871G>C (p.Asp291His) c.946G>C (p.Asp316His) c.925G>C (p.Asp309His) c.1033G>C (p.Asp345His) | |
8 | g.93922930G= | CA1803280790 | PDP1 | c.871G= (p.Asp291=) c.946G= (p.Asp316=) c.925G= (p.Asp309=) c.1033G= (p.Asp345=) | |
8 | g.93922930G>T | CA371694519 | PDP1 | c.871G>T (p.Asp291Tyr) c.946G>T (p.Asp316Tyr) c.925G>T (p.Asp309Tyr) c.1033G>T (p.Asp345Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922931A>C | CA371694521 | PDP1 | c.872A>C (p.Asp291Ala) c.947A>C (p.Asp316Ala) c.926A>C (p.Asp309Ala) c.1034A>C (p.Asp345Ala) | |
8 | g.93922931A>G | CA371694523 | PDP1 | c.872A>G (p.Asp291Gly) c.947A>G (p.Asp316Gly) c.926A>G (p.Asp309Gly) c.1034A>G (p.Asp345Gly) | |
8 | g.93922931A>T | CA371694524 | PDP1 | c.872A>T (p.Asp291Val) c.947A>T (p.Asp316Val) c.926A>T (p.Asp309Val) c.1034A>T (p.Asp345Val) | |
8 | g.93922932T>A | CA371694525 | PDP1 | c.873T>A (p.Asp291Glu) c.948T>A (p.Asp316Glu) c.927T>A (p.Asp309Glu) c.1035T>A (p.Asp345Glu) | |
8 | g.93922932T>C | CA462118011 | PDP1 | c.873T>C (p.Asp291=) c.948T>C (p.Asp316=) c.927T>C (p.Asp309=) c.1035T>C (p.Asp345=) | gnomAD v4 |
8 | g.93922932T>G | CA371694527 | PDP1 | c.873T>G (p.Asp291Glu) c.948T>G (p.Asp316Glu) c.927T>G (p.Asp309Glu) c.1035T>G (p.Asp345Glu) | |
8 | g.93922933A>C | CA371694528 | PDP1 | c.874A>C (p.Ser292Arg) c.949A>C (p.Ser317Arg) c.928A>C (p.Ser310Arg) c.1036A>C (p.Ser346Arg) | |
8 | g.93922933A>G | CA371694529 | PDP1 | c.874A>G (p.Ser292Gly) c.949A>G (p.Ser317Gly) c.928A>G (p.Ser310Gly) c.1036A>G (p.Ser346Gly) | |
8 | g.93922933A>T | CA371694530 | PDP1 | c.874A>T (p.Ser292Cys) c.949A>T (p.Ser317Cys) c.928A>T (p.Ser310Cys) c.1036A>T (p.Ser346Cys) | |
8 | g.93922935_93922937del | CA2687927846 | PDP1 | c.876_878del (p.Ser292del) c.951_953del (p.Ser317del) c.930_932del (p.Ser310del) c.1038_1040del (p.Ser346del) | gnomAD v4 |
8 | g.93922934G>A | CA371694532 | PDP1 | c.875G>A (p.Ser292Asn) c.950G>A (p.Ser317Asn) c.929G>A (p.Ser310Asn) c.1037G>A (p.Ser346Asn) | |
8 | g.93922934G>C | CA371694533 | PDP1 | c.875G>C (p.Ser292Thr) c.950G>C (p.Ser317Thr) c.929G>C (p.Ser310Thr) c.1037G>C (p.Ser346Thr) | |
8 | g.93922934G>T | CA371694534 | PDP1 | c.875G>T (p.Ser292Ile) c.950G>T (p.Ser317Ile) c.929G>T (p.Ser310Ile) c.1037G>T (p.Ser346Ile) | |
8 | g.93922935C>A | CA371694536 | PDP1 | c.876C>A (p.Ser292Arg) c.951C>A (p.Ser317Arg) c.930C>A (p.Ser310Arg) c.1038C>A (p.Ser346Arg) | |
8 | g.93922935C>G | CA371694537 | PDP1 | c.876C>G (p.Ser292Arg) c.951C>G (p.Ser317Arg) c.930C>G (p.Ser310Arg) c.1038C>G (p.Ser346Arg) | |
8 | g.93922935C>T | CA462118014 | PDP1 | c.876C>T (p.Ser292=) c.951C>T (p.Ser317=) c.930C>T (p.Ser310=) c.1038C>T (p.Ser346=) | |
8 | g.93922936A>C | CA462118015 | PDP1 | c.877A>C (p.Arg293=) c.952A>C (p.Arg318=) c.931A>C (p.Arg311=) c.1039A>C (p.Arg347=) | |
8 | g.93922936A>G | CA371694539 | PDP1 | c.877A>G (p.Arg293Gly) c.952A>G (p.Arg318Gly) c.931A>G (p.Arg311Gly) c.1039A>G (p.Arg347Gly) | |
8 | g.93922936A>T | CA371694541 | PDP1 | c.877A>T (p.Arg293Ter) c.952A>T (p.Arg318Ter) c.931A>T (p.Arg311Ter) c.1039A>T (p.Arg347Ter) | |
8 | g.93922937G>A | CA4808753 | PDP1 | c.878G>A (p.Arg293Lys) c.953G>A (p.Arg318Lys) c.932G>A (p.Arg311Lys) c.1040G>A (p.Arg347Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922937G>C | CA371694543 | PDP1 | c.878G>C (p.Arg293Thr) c.953G>C (p.Arg318Thr) c.932G>C (p.Arg311Thr) c.1040G>C (p.Arg347Thr) | |
8 | g.93922937G= | CA1803280791 | PDP1 | c.878G= (p.Arg293=) c.953G= (p.Arg318=) c.932G= (p.Arg311=) c.1040G= (p.Arg347=) | |
8 | g.93922937G>T | CA371694544 | PDP1 | c.878G>T (p.Arg293Ile) c.953G>T (p.Arg318Ile) c.932G>T (p.Arg311Ile) c.1040G>T (p.Arg347Ile) | |
8 | g.93922938A>C | CA371694545 | PDP1 | c.879A>C (p.Arg293Ser) c.954A>C (p.Arg318Ser) c.933A>C (p.Arg311Ser) c.1041A>C (p.Arg347Ser) | |
8 | g.93922938A>G | CA462118018 | PDP1 | c.879A>G (p.Arg293=) c.954A>G (p.Arg318=) c.933A>G (p.Arg311=) c.1041A>G (p.Arg347=) | |
8 | g.93922938A>T | CA371694546 | PDP1 | c.879A>T (p.Arg293Ser) c.954A>T (p.Arg318Ser) c.933A>T (p.Arg311Ser) c.1041A>T (p.Arg347Ser) | |
8 | g.93922939G>A | CA371694548 | PDP1 | c.880G>A (p.Ala294Thr) c.955G>A (p.Ala319Thr) c.934G>A (p.Ala312Thr) c.1042G>A (p.Ala348Thr) | |
8 | g.93922939G>C | CA371694550 | PDP1 | c.880G>C (p.Ala294Pro) c.955G>C (p.Ala319Pro) c.934G>C (p.Ala312Pro) c.1042G>C (p.Ala348Pro) | |
8 | g.93922939G>T | CA371694551 | PDP1 | c.880G>T (p.Ala294Ser) c.955G>T (p.Ala319Ser) c.934G>T (p.Ala312Ser) c.1042G>T (p.Ala348Ser) | |
8 | g.93922940C>A | CA371694552 | PDP1 | c.881C>A (p.Ala294Asp) c.956C>A (p.Ala319Asp) c.935C>A (p.Ala312Asp) c.1043C>A (p.Ala348Asp) | |
8 | g.93922940C>G | CA371694554 | PDP1 | c.881C>G (p.Ala294Gly) c.956C>G (p.Ala319Gly) c.935C>G (p.Ala312Gly) c.1043C>G (p.Ala348Gly) | |
8 | g.93922940C>T | CA371694556 | PDP1 | c.881C>T (p.Ala294Val) c.956C>T (p.Ala319Val) c.935C>T (p.Ala312Val) c.1043C>T (p.Ala348Val) | |
8 | g.93922941C>A | CA462118020 | PDP1 | c.882C>A (p.Ala294=) c.957C>A (p.Ala319=) c.936C>A (p.Ala312=) c.1044C>A (p.Ala348=) | |
8 | g.93922941C>G | CA462118021 | PDP1 | c.882C>G (p.Ala294=) c.957C>G (p.Ala319=) c.936C>G (p.Ala312=) c.1044C>G (p.Ala348=) | |
8 | g.93922941C>T | CA462118022 | PDP1 | c.882C>T (p.Ala294=) c.957C>T (p.Ala319=) c.936C>T (p.Ala312=) c.1044C>T (p.Ala348=) | gnomAD v4 |
8 | g.93922942A= | CA1803280792 | PDP1 | c.883A= (p.Met295=) c.958A= (p.Met320=) c.937A= (p.Met313=) c.1045A= (p.Met349=) | |
8 | g.93922942A>C | CA371694558 | PDP1 | c.883A>C (p.Met295Leu) c.958A>C (p.Met320Leu) c.937A>C (p.Met313Leu) c.1045A>C (p.Met349Leu) | |
8 | g.93922942A>G | CA371694559 | PDP1 | c.883A>G (p.Met295Val) c.958A>G (p.Met320Val) c.937A>G (p.Met313Val) c.1045A>G (p.Met349Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922942A>T | CA371694557 | PDP1 | c.883A>T (p.Met295Leu) c.958A>T (p.Met320Leu) c.937A>T (p.Met313Leu) c.1045A>T (p.Met349Leu) | |
8 | g.93922943T>A | CA371694561 | PDP1 | c.884T>A (p.Met295Lys) c.959T>A (p.Met320Lys) c.938T>A (p.Met313Lys) c.1046T>A (p.Met349Lys) | |
8 | g.93922943T>C | CA371694564 | PDP1 | c.884T>C (p.Met295Thr) c.959T>C (p.Met320Thr) c.938T>C (p.Met313Thr) c.1046T>C (p.Met349Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93922943T>G | CA371694562 | PDP1 | c.884T>G (p.Met295Arg) c.959T>G (p.Met320Arg) c.938T>G (p.Met313Arg) c.1046T>G (p.Met349Arg) | |
8 | g.93922943T= | CA1803280793 | PDP1 | c.884T= (p.Met295=) c.959T= (p.Met320=) c.938T= (p.Met313=) c.1046T= (p.Met349=) | |
8 | g.93922944G>A | CA371694566 | PDP1 | c.885G>A (p.Met295Ile) c.960G>A (p.Met320Ile) c.939G>A (p.Met313Ile) c.1047G>A (p.Met349Ile) | |
8 | g.93922944G>C | CA371694567 | PDP1 | c.885G>C (p.Met295Ile) c.960G>C (p.Met320Ile) c.939G>C (p.Met313Ile) c.1047G>C (p.Met349Ile) | |
8 | g.93922944G>T | CA371694569 | PDP1 | c.885G>T (p.Met295Ile) c.960G>T (p.Met320Ile) c.939G>T (p.Met313Ile) c.1047G>T (p.Met349Ile) | |
8 | g.93922945C>A | CA371694571 | PDP1 | c.886C>A (p.Leu296Met) c.961C>A (p.Leu321Met) c.940C>A (p.Leu314Met) c.1048C>A (p.Leu350Met) | |
8 | g.93922945C= | CA1803280794 | PDP1 | c.886C= (p.Leu296=) c.961C= (p.Leu321=) c.940C= (p.Leu314=) c.1048C= (p.Leu350=) | |
8 | g.93922945C>G | CA181375745 | PDP1 | c.886C>G (p.Leu296Val) c.961C>G (p.Leu321Val) c.940C>G (p.Leu314Val) c.1048C>G (p.Leu350Val) | dbSNP gnomAD v4 |
8 | g.93922945C>T | CA462118026 | PDP1 | c.886C>T (p.Leu296=) c.961C>T (p.Leu321=) c.940C>T (p.Leu314=) c.1048C>T (p.Leu350=) | |
8 | g.93922946T>A | CA371694575 | PDP1 | c.887T>A (p.Leu296Gln) c.962T>A (p.Leu321Gln) c.941T>A (p.Leu314Gln) c.1049T>A (p.Leu350Gln) | |
8 | g.93922946T>C | CA371694574 | PDP1 | c.887T>C (p.Leu296Pro) c.962T>C (p.Leu321Pro) c.941T>C (p.Leu314Pro) c.1049T>C (p.Leu350Pro) | |
8 | g.93922946T>G | CA371694573 | PDP1 | c.887T>G (p.Leu296Arg) c.962T>G (p.Leu321Arg) c.941T>G (p.Leu314Arg) c.1049T>G (p.Leu350Arg) | gnomAD v4 |
8 | g.93922947G>A | CA462118030 | PDP1 | c.888G>A (p.Leu296=) c.963G>A (p.Leu321=) c.942G>A (p.Leu314=) c.1050G>A (p.Leu350=) | |
8 | g.93922947G>C | CA462118031 | PDP1 | c.888G>C (p.Leu296=) c.963G>C (p.Leu321=) c.942G>C (p.Leu314=) c.1050G>C (p.Leu350=) | |
8 | g.93922947G>T | CA462118032 | PDP1 | c.888G>T (p.Leu296=) c.963G>T (p.Leu321=) c.942G>T (p.Leu314=) c.1050G>T (p.Leu350=) | |
8 | g.93922948G>A | CA371694577 | PDP1 | c.889G>A (p.Gly297Ser) c.964G>A (p.Gly322Ser) c.943G>A (p.Gly315Ser) c.1051G>A (p.Gly351Ser) | |
8 | g.93922948G>C | CA371694579 | PDP1 | c.889G>C (p.Gly297Arg) c.964G>C (p.Gly322Arg) c.943G>C (p.Gly315Arg) c.1051G>C (p.Gly351Arg) | |
8 | g.93922948G>T | CA371694580 | PDP1 | c.889G>T (p.Gly297Cys) c.964G>T (p.Gly322Cys) c.943G>T (p.Gly315Cys) c.1051G>T (p.Gly351Cys) | dbSNP |
8 | g.93922949G>A | CA371694582 | PDP1 | c.890G>A (p.Gly297Asp) c.965G>A (p.Gly322Asp) c.944G>A (p.Gly315Asp) c.1052G>A (p.Gly351Asp) | |
8 | g.93922949G>C | CA371694583 | PDP1 | c.890G>C (p.Gly297Ala) c.965G>C (p.Gly322Ala) c.944G>C (p.Gly315Ala) c.1052G>C (p.Gly351Ala) | |
8 | g.93922949G>T | CA371694585 | PDP1 | c.890G>T (p.Gly297Val) c.965G>T (p.Gly322Val) c.944G>T (p.Gly315Val) c.1052G>T (p.Gly351Val) | |
8 | g.93922950T>A | CA462118034 | PDP1 | c.891T>A (p.Gly297=) c.966T>A (p.Gly322=) c.945T>A (p.Gly315=) c.1053T>A (p.Gly351=) | |
8 | g.93922950T>C | CA462118036 | PDP1 | c.891T>C (p.Gly297=) c.966T>C (p.Gly322=) c.945T>C (p.Gly315=) c.1053T>C (p.Gly351=) | |
8 | g.93922950T>G | CA462118037 | PDP1 | c.891T>G (p.Gly297=) c.966T>G (p.Gly322=) c.945T>G (p.Gly315=) c.1053T>G (p.Gly351=) | dbSNP gnomAD v4 |
8 | g.93922950T= | CA1803280795 | PDP1 | c.891T= (p.Gly297=) c.966T= (p.Gly322=) c.945T= (p.Gly315=) c.1053T= (p.Gly351=) | |
8 | g.93922951G>A | CA4808754 | PDP1 | c.892G>A (p.Val298Met) c.967G>A (p.Val323Met) c.946G>A (p.Val316Met) c.1054G>A (p.Val352Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922951G>C | CA371694588 | PDP1 | c.892G>C (p.Val298Leu) c.967G>C (p.Val323Leu) c.946G>C (p.Val316Leu) c.1054G>C (p.Val352Leu) | |
8 | g.93922951G= | CA1803280796 | PDP1 | c.892G= (p.Val298=) c.967G= (p.Val323=) c.946G= (p.Val316=) c.1054G= (p.Val352=) | |
8 | g.93922951G>T | CA371694589 | PDP1 | c.892G>T (p.Val298Leu) c.967G>T (p.Val323Leu) c.946G>T (p.Val316Leu) c.1054G>T (p.Val352Leu) | |
8 | g.93922952T>A | CA371694592 | PDP1 | c.893T>A (p.Val298Glu) c.968T>A (p.Val323Glu) c.947T>A (p.Val316Glu) c.1055T>A (p.Val352Glu) | |
8 | g.93922952T>C | CA371694595 | PDP1 | c.893T>C (p.Val298Ala) c.968T>C (p.Val323Ala) c.947T>C (p.Val316Ala) c.1055T>C (p.Val352Ala) | |
8 | g.93922952T>G | CA371694597 | PDP1 | c.893T>G (p.Val298Gly) c.968T>G (p.Val323Gly) c.947T>G (p.Val316Gly) c.1055T>G (p.Val352Gly) | |
8 | g.93922953G>A | CA462118038 | PDP1 | c.894G>A (p.Val298=) c.969G>A (p.Val323=) c.948G>A (p.Val316=) c.1056G>A (p.Val352=) | |
8 | g.93922953G>C | CA462118040 | PDP1 | c.894G>C (p.Val298=) c.969G>C (p.Val323=) c.948G>C (p.Val316=) c.1056G>C (p.Val352=) | |
8 | g.93922953G= | CA1803280797 | PDP1 | c.894G= (p.Val298=) c.969G= (p.Val323=) c.948G= (p.Val316=) c.1056G= (p.Val352=) | |
8 | g.93922953G>T | CA462118041 | PDP1 | c.894G>T (p.Val298=) c.969G>T (p.Val323=) c.948G>T (p.Val316=) c.1056G>T (p.Val352=) | dbSNP |
8 | g.93922954C>A | CA371694598 | PDP1 | c.895C>A (p.Gln299Lys) c.970C>A (p.Gln324Lys) c.949C>A (p.Gln317Lys) c.1057C>A (p.Gln353Lys) | |
8 | g.93922954C>G | CA371694599 | PDP1 | c.895C>G (p.Gln299Glu) c.970C>G (p.Gln324Glu) c.949C>G (p.Gln317Glu) c.1057C>G (p.Gln353Glu) | |
8 | g.93922954C>T | CA371694601 | PDP1 | c.895C>T (p.Gln299Ter) c.970C>T (p.Gln324Ter) c.949C>T (p.Gln317Ter) c.1057C>T (p.Gln353Ter) | |
8 | g.93922955A>C | CA371694603 | PDP1 | c.896A>C (p.Gln299Pro) c.971A>C (p.Gln324Pro) c.950A>C (p.Gln317Pro) c.1058A>C (p.Gln353Pro) | |
8 | g.93922955A>G | CA371694605 | PDP1 | c.896A>G (p.Gln299Arg) c.971A>G (p.Gln324Arg) c.950A>G (p.Gln317Arg) c.1058A>G (p.Gln353Arg) | gnomAD v4 |
8 | g.93922955A>T | CA371694608 | PDP1 | c.896A>T (p.Gln299Leu) c.971A>T (p.Gln324Leu) c.950A>T (p.Gln317Leu) c.1058A>T (p.Gln353Leu) | |
8 | g.93922956G>A | CA4808755 | PDP1 | c.897G>A (p.Gln299=) c.972G>A (p.Gln324=) c.951G>A (p.Gln317=) c.1059G>A (p.Gln353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922956G>C | CA371694610 | PDP1 | c.897G>C (p.Gln299His) c.972G>C (p.Gln324His) c.951G>C (p.Gln317His) c.1059G>C (p.Gln353His) | |
8 | g.93922956G= | CA1803280798 | PDP1 | c.897G= (p.Gln299=) c.972G= (p.Gln324=) c.951G= (p.Gln317=) c.1059G= (p.Gln353=) | |
8 | g.93922956G>T | CA371694615 | PDP1 | c.897G>T (p.Gln299His) c.972G>T (p.Gln324His) c.951G>T (p.Gln317His) c.1059G>T (p.Gln353His) | dbSNP |
8 | g.93922957G>A | CA371694616 | PDP1 | c.898G>A (p.Glu300Lys) c.973G>A (p.Glu325Lys) c.952G>A (p.Glu318Lys) c.1060G>A (p.Glu354Lys) | |
8 | g.93922957G>C | CA181375752 | PDP1 | c.898G>C (p.Glu300Gln) c.973G>C (p.Glu325Gln) c.952G>C (p.Glu318Gln) c.1060G>C (p.Glu354Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922957G= | CA1803280799 | PDP1 | c.898G= (p.Glu300=) c.973G= (p.Glu325=) c.952G= (p.Glu318=) c.1060G= (p.Glu354=) | |
8 | g.93922957G>T | CA371694617 | PDP1 | c.898G>T (p.Glu300Ter) c.973G>T (p.Glu325Ter) c.952G>T (p.Glu318Ter) c.1060G>T (p.Glu354Ter) | |
8 | g.93922958A>C | CA371694618 | PDP1 | c.899A>C (p.Glu300Ala) c.974A>C (p.Glu325Ala) c.953A>C (p.Glu318Ala) c.1061A>C (p.Glu354Ala) | |
8 | g.93922958A>G | CA371694620 | PDP1 | c.899A>G (p.Glu300Gly) c.974A>G (p.Glu325Gly) c.953A>G (p.Glu318Gly) c.1061A>G (p.Glu354Gly) | |
8 | g.93922958A>T | CA371694622 | PDP1 | c.899A>T (p.Glu300Val) c.974A>T (p.Glu325Val) c.953A>T (p.Glu318Val) c.1061A>T (p.Glu354Val) | |
8 | g.93922959A= | CA1803280800 | PDP1 | c.900A= (p.Glu300=) c.975A= (p.Glu325=) c.954A= (p.Glu318=) c.1062A= (p.Glu354=) | |
8 | g.93922959A>C | CA371694623 | PDP1 | c.900A>C (p.Glu300Asp) c.975A>C (p.Glu325Asp) c.954A>C (p.Glu318Asp) c.1062A>C (p.Glu354Asp) | |
8 | g.93922959A>G | CA4808756 | PDP1 | c.900A>G (p.Glu300=) c.975A>G (p.Glu325=) c.954A>G (p.Glu318=) c.1062A>G (p.Glu354=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922959A>T | CA371694631 | PDP1 | c.900A>T (p.Glu300Asp) c.975A>T (p.Glu325Asp) c.954A>T (p.Glu318Asp) c.1062A>T (p.Glu354Asp) | |
8 | g.93922960G>A | CA371694634 | PDP1 | c.901G>A (p.Glu301Lys) c.976G>A (p.Glu326Lys) c.955G>A (p.Glu319Lys) c.1063G>A (p.Glu355Lys) | |
8 | g.93922960G>C | CA371694635 | PDP1 | c.901G>C (p.Glu301Gln) c.976G>C (p.Glu326Gln) c.955G>C (p.Glu319Gln) c.1063G>C (p.Glu355Gln) | |
8 | g.93922960G>T | CA371694638 | PDP1 | c.901G>T (p.Glu301Ter) c.976G>T (p.Glu326Ter) c.955G>T (p.Glu319Ter) c.1063G>T (p.Glu355Ter) | |
8 | g.93922961A>C | CA371694639 | PDP1 | c.902A>C (p.Glu301Ala) c.977A>C (p.Glu326Ala) c.956A>C (p.Glu319Ala) c.1064A>C (p.Glu355Ala) | |
8 | g.93922961A>G | CA371694642 | PDP1 | c.902A>G (p.Glu301Gly) c.977A>G (p.Glu326Gly) c.956A>G (p.Glu319Gly) c.1064A>G (p.Glu355Gly) | |
8 | g.93922961A>T | CA371694645 | PDP1 | c.902A>T (p.Glu301Val) c.977A>T (p.Glu326Val) c.956A>T (p.Glu319Val) c.1064A>T (p.Glu355Val) | |
8 | g.93922962G>A | CA462118045 | PDP1 | c.903G>A (p.Glu301=) c.978G>A (p.Glu326=) c.957G>A (p.Glu319=) c.1065G>A (p.Glu355=) | |
8 | g.93922962G>C | CA371694648 | PDP1 | c.903G>C (p.Glu301Asp) c.978G>C (p.Glu326Asp) c.957G>C (p.Glu319Asp) c.1065G>C (p.Glu355Asp) | |
8 | g.93922962G>T | CA371694646 | PDP1 | c.903G>T (p.Glu301Asp) c.978G>T (p.Glu326Asp) c.957G>T (p.Glu319Asp) c.1065G>T (p.Glu355Asp) | |
8 | g.93922963G>A | CA371694650 | PDP1 | c.904G>A (p.Asp302Asn) c.979G>A (p.Asp327Asn) c.958G>A (p.Asp320Asn) c.1066G>A (p.Asp356Asn) | |
8 | g.93922963G>C | CA371694652 | PDP1 | c.904G>C (p.Asp302His) c.979G>C (p.Asp327His) c.958G>C (p.Asp320His) c.1066G>C (p.Asp356His) | |
8 | g.93922963G>T | CA371694653 | PDP1 | c.904G>T (p.Asp302Tyr) c.979G>T (p.Asp327Tyr) c.958G>T (p.Asp320Tyr) c.1066G>T (p.Asp356Tyr) | |
8 | g.93922964A= | CA1803280801 | PDP1 | c.905A= (p.Asp302=) c.980A= (p.Asp327=) c.959A= (p.Asp320=) c.1067A= (p.Asp356=) | |
8 | g.93922964A>C | CA371694656 | PDP1 | c.905A>C (p.Asp302Ala) c.980A>C (p.Asp327Ala) c.959A>C (p.Asp320Ala) c.1067A>C (p.Asp356Ala) | |
8 | g.93922964A>G | CA371694658 | PDP1 | c.905A>G (p.Asp302Gly) c.980A>G (p.Asp327Gly) c.959A>G (p.Asp320Gly) c.1067A>G (p.Asp356Gly) | ClinVar |
8 | g.93922964A>T | CA371694662 | PDP1 | c.905A>T (p.Asp302Val) c.980A>T (p.Asp327Val) c.959A>T (p.Asp320Val) c.1067A>T (p.Asp356Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922965C>A | CA371694663 | PDP1 | c.906C>A (p.Asp302Glu) c.981C>A (p.Asp327Glu) c.960C>A (p.Asp320Glu) c.1068C>A (p.Asp356Glu) | |
8 | g.93922965C= | CA1803280802 | PDP1 | c.906C= (p.Asp302=) c.981C= (p.Asp327=) c.960C= (p.Asp320=) c.1068C= (p.Asp356=) | |
8 | g.93922965C>G | CA371694665 | PDP1 | c.906C>G (p.Asp302Glu) c.981C>G (p.Asp327Glu) c.960C>G (p.Asp320Glu) c.1068C>G (p.Asp356Glu) | |
8 | g.93922965C>T | CA292760 | PDP1 | c.906C>T (p.Asp302=) c.981C>T (p.Asp327=) c.960C>T (p.Asp320=) c.1068C>T (p.Asp356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922966G>A | CA371694670 | PDP1 | c.907G>A (p.Gly303Ser) c.982G>A (p.Gly328Ser) c.961G>A (p.Gly321Ser) c.1069G>A (p.Gly357Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.93922966G>C | CA371694672 | PDP1 | c.907G>C (p.Gly303Arg) c.982G>C (p.Gly328Arg) c.961G>C (p.Gly321Arg) c.1069G>C (p.Gly357Arg) | |
8 | g.93922966G>T | CA371694675 | PDP1 | c.907G>T (p.Gly303Cys) c.982G>T (p.Gly328Cys) c.961G>T (p.Gly321Cys) c.1069G>T (p.Gly357Cys) | |
8 | g.93922967G>A | CA371694683 | PDP1 | c.908G>A (p.Gly303Asp) c.983G>A (p.Gly328Asp) c.962G>A (p.Gly321Asp) c.1070G>A (p.Gly357Asp) | COSMIC COSMIC |
8 | g.93922967G>C | CA371694681 | PDP1 | c.908G>C (p.Gly303Ala) c.983G>C (p.Gly328Ala) c.962G>C (p.Gly321Ala) c.1070G>C (p.Gly357Ala) | |
8 | g.93922967G>T | CA371694678 | PDP1 | c.908G>T (p.Gly303Val) c.983G>T (p.Gly328Val) c.962G>T (p.Gly321Val) c.1070G>T (p.Gly357Val) | |
8 | g.93922968C>A | CA462118048 | PDP1 | c.909C>A (p.Gly303=) c.984C>A (p.Gly328=) c.963C>A (p.Gly321=) c.1071C>A (p.Gly357=) | |
8 | g.93922968C= | CA1803280803 | PDP1 | c.909C= (p.Gly303=) c.984C= (p.Gly328=) c.963C= (p.Gly321=) c.1071C= (p.Gly357=) | |
8 | g.93922968C>G | CA462118049 | PDP1 | c.909C>G (p.Gly303=) c.984C>G (p.Gly328=) c.963C>G (p.Gly321=) c.1071C>G (p.Gly357=) | |
8 | g.93922968C>T | CA4808757 | PDP1 | c.909C>T (p.Gly303=) c.984C>T (p.Gly328=) c.963C>T (p.Gly321=) c.1071C>T (p.Gly357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.93922969T>A | CA371694691 | PDP1 | c.910T>A (p.Ser304Thr) c.985T>A (p.Ser329Thr) c.964T>A (p.Ser322Thr) c.1072T>A (p.Ser358Thr) | |
8 | g.93922969T>C | CA371694687 | PDP1 | c.910T>C (p.Ser304Pro) c.985T>C (p.Ser329Pro) c.964T>C (p.Ser322Pro) c.1072T>C (p.Ser358Pro) | |
8 | g.93922969T>G | CA371694689 | PDP1 | c.910T>G (p.Ser304Ala) c.985T>G (p.Ser329Ala) c.964T>G (p.Ser322Ala) c.1072T>G (p.Ser358Ala) | |
8 | g.93922970C>A | CA371694693 | PDP1 | c.911C>A (p.Ser304Ter) c.986C>A (p.Ser329Ter) c.965C>A (p.Ser322Ter) c.1073C>A (p.Ser358Ter) | |
8 | g.93922970C>G | CA371694696 | PDP1 | c.911C>G (p.Ser304Ter) c.986C>G (p.Ser329Ter) c.965C>G (p.Ser322Ter) c.1073C>G (p.Ser358Ter) | |
8 | g.93922970C>T | CA371694699 | PDP1 | c.911C>T (p.Ser304Leu) c.986C>T (p.Ser329Leu) c.965C>T (p.Ser322Leu) c.1073C>T (p.Ser358Leu) | gnomAD v4 COSMIC COSMIC |
8 | g.93922971A>C | CA462118051 | PDP1 | c.912A>C (p.Ser304=) c.987A>C (p.Ser329=) c.966A>C (p.Ser322=) c.1074A>C (p.Ser358=) | |
8 | g.93922971A>G | CA462118052 | PDP1 | c.912A>G (p.Ser304=) c.987A>G (p.Ser329=) c.966A>G (p.Ser322=) c.1074A>G (p.Ser358=) | |
8 | g.93922971A>T | CA462118053 | PDP1 | c.912A>T (p.Ser304=) c.987A>T (p.Ser329=) c.966A>T (p.Ser322=) c.1074A>T (p.Ser358=) | |
8 | g.93922972T>A | CA371694700 | PDP1 | c.913T>A (p.Trp305Arg) c.988T>A (p.Trp330Arg) c.967T>A (p.Trp323Arg) c.1075T>A (p.Trp359Arg) | |
8 | g.93922972T>C | CA4808758 | PDP1 | c.913T>C (p.Trp305Arg) c.988T>C (p.Trp330Arg) c.967T>C (p.Trp323Arg) c.1075T>C (p.Trp359Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922972T>G | CA371694703 | PDP1 | c.913T>G (p.Trp305Gly) c.988T>G (p.Trp330Gly) c.967T>G (p.Trp323Gly) c.1075T>G (p.Trp359Gly) | |
8 | g.93922972T= | CA1803280804 | PDP1 | c.913T= (p.Trp305=) c.988T= (p.Trp330=) c.967T= (p.Trp323=) c.1075T= (p.Trp359=) | |
8 | g.93922973G>A | CA371694706 | PDP1 | c.914G>A (p.Trp305Ter) c.989G>A (p.Trp330Ter) c.968G>A (p.Trp323Ter) c.1076G>A (p.Trp359Ter) | |
8 | g.93922973G>C | CA371694708 | PDP1 | c.914G>C (p.Trp305Ser) c.989G>C (p.Trp330Ser) c.968G>C (p.Trp323Ser) c.1076G>C (p.Trp359Ser) | gnomAD v4 |
8 | g.93922973G>T | CA371694709 | PDP1 | c.914G>T (p.Trp305Leu) c.989G>T (p.Trp330Leu) c.968G>T (p.Trp323Leu) c.1076G>T (p.Trp359Leu) | |
8 | g.93922974G>A | CA371694715 | PDP1 | c.915G>A (p.Trp305Ter) c.990G>A (p.Trp330Ter) c.969G>A (p.Trp323Ter) c.1077G>A (p.Trp359Ter) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93922974G>C | CA371694713 | PDP1 | c.915G>C (p.Trp305Cys) c.990G>C (p.Trp330Cys) c.969G>C (p.Trp323Cys) c.1077G>C (p.Trp359Cys) | |
8 | g.93922974G= | CA1803280805 | PDP1 | c.915G= (p.Trp305=) c.990G= (p.Trp330=) c.969G= (p.Trp323=) c.1077G= (p.Trp359=) | |
8 | g.93922974G>T | CA371694711 | PDP1 | c.915G>T (p.Trp305Cys) c.990G>T (p.Trp330Cys) c.969G>T (p.Trp323Cys) c.1077G>T (p.Trp359Cys) | |
8 | g.93922975T>A | CA371694717 | PDP1 | c.916T>A (p.Ser306Thr) c.991T>A (p.Ser331Thr) c.970T>A (p.Ser324Thr) c.1078T>A (p.Ser360Thr) | |
8 | g.93922975T>C | CA371694718 | PDP1 | c.916T>C (p.Ser306Pro) c.991T>C (p.Ser331Pro) c.970T>C (p.Ser324Pro) c.1078T>C (p.Ser360Pro) | |
8 | g.93922975T>G | CA371694720 | PDP1 | c.916T>G (p.Ser306Ala) c.991T>G (p.Ser331Ala) c.970T>G (p.Ser324Ala) c.1078T>G (p.Ser360Ala) | |
8 | g.93922976C>A | CA371694724 | PDP1 | c.917C>A (p.Ser306Ter) c.992C>A (p.Ser331Ter) c.971C>A (p.Ser324Ter) c.1079C>A (p.Ser360Ter) | |
8 | g.93922976C>G | CA371694726 | PDP1 | c.917C>G (p.Ser306Ter) c.992C>G (p.Ser331Ter) c.971C>G (p.Ser324Ter) c.1079C>G (p.Ser360Ter) | |
8 | g.93922976C>T | CA371694728 | PDP1 | c.917C>T (p.Ser306Leu) c.992C>T (p.Ser331Leu) c.971C>T (p.Ser324Leu) c.1079C>T (p.Ser360Leu) | |
8 | g.93922977A>C | CA462118055 | PDP1 | c.918A>C (p.Ser306=) c.993A>C (p.Ser331=) c.972A>C (p.Ser324=) c.1080A>C (p.Ser360=) | gnomAD v4 |
8 | g.93922977A>G | CA462118057 | PDP1 | c.918A>G (p.Ser306=) c.993A>G (p.Ser331=) c.972A>G (p.Ser324=) c.1080A>G (p.Ser360=) | gnomAD v4 |
8 | g.93922977A>T | CA462118060 | PDP1 | c.918A>T (p.Ser306=) c.993A>T (p.Ser331=) c.972A>T (p.Ser324=) c.1080A>T (p.Ser360=) | |
8 | g.93922978G>A | CA371694731 | PDP1 | c.919G>A (p.Ala307Thr) c.994G>A (p.Ala332Thr) c.973G>A (p.Ala325Thr) c.1081G>A (p.Ala361Thr) | |
8 | g.93922978G>C | CA371694733 | PDP1 | c.919G>C (p.Ala307Pro) c.994G>C (p.Ala332Pro) c.973G>C (p.Ala325Pro) c.1081G>C (p.Ala361Pro) | |
8 | g.93922978G= | CA1803280806 | PDP1 | c.919G= (p.Ala307=) c.994G= (p.Ala332=) c.973G= (p.Ala325=) c.1081G= (p.Ala361=) | |
8 | g.93922978G>T | CA4808759 | PDP1 | c.919G>T (p.Ala307Ser) c.994G>T (p.Ala332Ser) c.973G>T (p.Ala325Ser) c.1081G>T (p.Ala361Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922979C>A | CA371694737 | PDP1 | c.920C>A (p.Ala307Glu) c.995C>A (p.Ala332Glu) c.974C>A (p.Ala325Glu) c.1082C>A (p.Ala361Glu) | |
8 | g.93922979C>G | CA371694738 | PDP1 | c.920C>G (p.Ala307Gly) c.995C>G (p.Ala332Gly) c.974C>G (p.Ala325Gly) c.1082C>G (p.Ala361Gly) | |
8 | g.93922979C>T | CA371694739 | PDP1 | c.920C>T (p.Ala307Val) c.995C>T (p.Ala332Val) c.974C>T (p.Ala325Val) c.1082C>T (p.Ala361Val) | |
8 | g.93922980A>C | CA462118067 | PDP1 | c.921A>C (p.Ala307=) c.996A>C (p.Ala332=) c.975A>C (p.Ala325=) c.1083A>C (p.Ala361=) | |
8 | g.93922980A>G | CA462118066 | PDP1 | c.921A>G (p.Ala307=) c.996A>G (p.Ala332=) c.975A>G (p.Ala325=) c.1083A>G (p.Ala361=) | |
8 | g.93922980A>T | CA462118064 | PDP1 | c.921A>T (p.Ala307=) c.996A>T (p.Ala332=) c.975A>T (p.Ala325=) c.1083A>T (p.Ala361=) | |
8 | g.93922981G>A | CA371694742 | PDP1 | c.922G>A (p.Val308Ile) c.997G>A (p.Val333Ile) c.976G>A (p.Val326Ile) c.1084G>A (p.Val362Ile) | |
8 | g.93922981G>C | CA371694744 | PDP1 | c.922G>C (p.Val308Leu) c.997G>C (p.Val333Leu) c.976G>C (p.Val326Leu) c.1084G>C (p.Val362Leu) | |
8 | g.93922981G>T | CA371694740 | PDP1 | c.922G>T (p.Val308Phe) c.997G>T (p.Val333Phe) c.976G>T (p.Val326Phe) c.1084G>T (p.Val362Phe) | |
8 | g.93922982T>A | CA371694746 | PDP1 | c.923T>A (p.Val308Asp) c.998T>A (p.Val333Asp) c.977T>A (p.Val326Asp) c.1085T>A (p.Val362Asp) | |
8 | g.93922982T>C | CA371694747 | PDP1 | c.923T>C (p.Val308Ala) c.998T>C (p.Val333Ala) c.977T>C (p.Val326Ala) c.1085T>C (p.Val362Ala) | gnomAD v4 |
8 | g.93922982T>G | CA371694749 | PDP1 | c.923T>G (p.Val308Gly) c.998T>G (p.Val333Gly) c.977T>G (p.Val326Gly) c.1085T>G (p.Val362Gly) | |
8 | g.93922983C>A | CA462118073 | PDP1 | c.924C>A (p.Val308=) c.999C>A (p.Val333=) c.978C>A (p.Val326=) c.1086C>A (p.Val362=) | |
8 | g.93922983C>G | CA462118072 | PDP1 | c.924C>G (p.Val308=) c.999C>G (p.Val333=) c.978C>G (p.Val326=) c.1086C>G (p.Val362=) | gnomAD v4 |
8 | g.93922983C>T | CA462118071 | PDP1 | c.924C>T (p.Val308=) c.999C>T (p.Val333=) c.978C>T (p.Val326=) c.1086C>T (p.Val362=) | |
8 | g.93922984A>C | CA371694751 | PDP1 | c.925A>C (p.Thr309Pro) c.1000A>C (p.Thr334Pro) c.979A>C (p.Thr327Pro) c.1087A>C (p.Thr363Pro) | |
8 | g.93922984A>G | CA371694753 | PDP1 | c.925A>G (p.Thr309Ala) c.1000A>G (p.Thr334Ala) c.979A>G (p.Thr327Ala) c.1087A>G (p.Thr363Ala) | |
8 | g.93922984A>T | CA371694755 | PDP1 | c.925A>T (p.Thr309Ser) c.1000A>T (p.Thr334Ser) c.979A>T (p.Thr327Ser) c.1087A>T (p.Thr363Ser) | |
8 | g.93922984dup | CA2687927849 | PDP1 | c.925dup (p.Thr309AsnfsTer4) c.1000dup (p.Thr334AsnfsTer4) c.979dup (p.Thr327AsnfsTer4) c.1087dup (p.Thr363AsnfsTer4) | gnomAD v4 |
8 | g.93922985C>A | CA371694756 | PDP1 | c.926C>A (p.Thr309Lys) c.1001C>A (p.Thr334Lys) c.980C>A (p.Thr327Lys) c.1088C>A (p.Thr363Lys) | |
8 | g.93922985C= | CA1803280807 | PDP1 | c.926C= (p.Thr309=) c.1001C= (p.Thr334=) c.980C= (p.Thr327=) c.1088C= (p.Thr363=) | |
8 | g.93922985C>G | CA371694757 | PDP1 | c.926C>G (p.Thr309Arg) c.1001C>G (p.Thr334Arg) c.980C>G (p.Thr327Arg) c.1088C>G (p.Thr363Arg) | |
8 | g.93922985C>T | CA4808760 | PDP1 | c.926C>T (p.Thr309Met) c.1001C>T (p.Thr334Met) c.980C>T (p.Thr327Met) c.1088C>T (p.Thr363Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922986G>A | CA4808761 | PDP1 | c.927G>A (p.Thr309=) c.1002G>A (p.Thr334=) c.981G>A (p.Thr327=) c.1089G>A (p.Thr363=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922986G>C | CA462118081 | PDP1 | c.927G>C (p.Thr309=) c.1002G>C (p.Thr334=) c.981G>C (p.Thr327=) c.1089G>C (p.Thr363=) | |
8 | g.93922986G= | CA1803280808 | PDP1 | c.927G= (p.Thr309=) c.1002G= (p.Thr334=) c.981G= (p.Thr327=) c.1089G= (p.Thr363=) | |
8 | g.93922986G>T | CA462118078 | PDP1 | c.927G>T (p.Thr309=) c.1002G>T (p.Thr334=) c.981G>T (p.Thr327=) c.1089G>T (p.Thr363=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922987C>A | CA371694758 | PDP1 | c.928C>A (p.Leu310Met) c.1003C>A (p.Leu335Met) c.982C>A (p.Leu328Met) c.1090C>A (p.Leu364Met) | |
8 | g.93922987C>G | CA371694760 | PDP1 | c.928C>G (p.Leu310Val) c.1003C>G (p.Leu335Val) c.982C>G (p.Leu328Val) c.1090C>G (p.Leu364Val) | |
8 | g.93922987C>T | CA462118084 | PDP1 | c.928C>T (p.Leu310=) c.1003C>T (p.Leu335=) c.982C>T (p.Leu328=) c.1090C>T (p.Leu364=) | gnomAD v4 |
8 | g.93922988T>A | CA371694764 | PDP1 | c.929T>A (p.Leu310Gln) c.1004T>A (p.Leu335Gln) c.983T>A (p.Leu328Gln) c.1091T>A (p.Leu364Gln) | |
8 | g.93922988T>C | CA371694765 | PDP1 | c.929T>C (p.Leu310Pro) c.1004T>C (p.Leu335Pro) c.983T>C (p.Leu328Pro) c.1091T>C (p.Leu364Pro) | |
8 | g.93922988T>G | CA371694762 | PDP1 | c.929T>G (p.Leu310Arg) c.1004T>G (p.Leu335Arg) c.983T>G (p.Leu328Arg) c.1091T>G (p.Leu364Arg) | |
8 | g.93922989G>A | CA462118086 | PDP1 | c.930G>A (p.Leu310=) c.1005G>A (p.Leu335=) c.984G>A (p.Leu328=) c.1092G>A (p.Leu364=) | gnomAD v4 |
8 | g.93922989G>C | CA462118087 | PDP1 | c.930G>C (p.Leu310=) c.1005G>C (p.Leu335=) c.984G>C (p.Leu328=) c.1092G>C (p.Leu364=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93922989G= | CA1803280809 | PDP1 | c.930G= (p.Leu310=) c.1005G= (p.Leu335=) c.984G= (p.Leu328=) c.1092G= (p.Leu364=) | |
8 | g.93922989G>T | CA462118089 | PDP1 | c.930G>T (p.Leu310=) c.1005G>T (p.Leu335=) c.984G>T (p.Leu328=) c.1092G>T (p.Leu364=) | |
8 | g.93922990T>A | CA371694767 | PDP1 | c.931T>A (p.Ser311Thr) c.1006T>A (p.Ser336Thr) c.985T>A (p.Ser329Thr) c.1093T>A (p.Ser365Thr) | |
8 | g.93922990T>C | CA371694768 | PDP1 | c.931T>C (p.Ser311Pro) c.1006T>C (p.Ser336Pro) c.985T>C (p.Ser329Pro) c.1093T>C (p.Ser365Pro) | |
8 | g.93922990T>G | CA371694769 | PDP1 | c.931T>G (p.Ser311Ala) c.1006T>G (p.Ser336Ala) c.985T>G (p.Ser329Ala) c.1093T>G (p.Ser365Ala) | |
8 | g.93922991C>A | CA371694770 | PDP1 | c.932C>A (p.Ser311Tyr) c.1007C>A (p.Ser336Tyr) c.986C>A (p.Ser329Tyr) c.1094C>A (p.Ser365Tyr) | |
8 | g.93922991C>G | CA371694771 | PDP1 | c.932C>G (p.Ser311Cys) c.1007C>G (p.Ser336Cys) c.986C>G (p.Ser329Cys) c.1094C>G (p.Ser365Cys) | |
8 | g.93922991C>T | CA371694773 | PDP1 | c.932C>T (p.Ser311Phe) c.1007C>T (p.Ser336Phe) c.986C>T (p.Ser329Phe) c.1094C>T (p.Ser365Phe) | |
8 | g.93922992T>A | CA462118093 | PDP1 | c.933T>A (p.Ser311=) c.1008T>A (p.Ser336=) c.987T>A (p.Ser329=) c.1095T>A (p.Ser365=) | |
8 | g.93922992T>C | CA462118094 | PDP1 | c.933T>C (p.Ser311=) c.1008T>C (p.Ser336=) c.987T>C (p.Ser329=) c.1095T>C (p.Ser365=) | |
8 | g.93922992T>G | CA462118095 | PDP1 | c.933T>G (p.Ser311=) c.1008T>G (p.Ser336=) c.987T>G (p.Ser329=) c.1095T>G (p.Ser365=) |