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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.67811529dup | CA5520854 | DNAJC12 | c.293dup (p.Thr99AspfsTer10) c.293dup (p.Thr99AspfsTer13) c.*213dup (n.*213dup) c.383dup (p.Thr129AspfsTer10) c.323dup (p.Thr109AspfsTer10) c.47dup (p.Thr17AspfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.67811529T>A | CA377098541 | DNAJC12 | c.292A>T (p.Lys98Ter) c.*311A>T (n.*311A>T) c.*212A>T (n.*212A>T) c.382A>T (p.Lys128Ter) c.322A>T (p.Lys108Ter) c.46A>T (p.Lys16Ter) | |
| 10 | g.67811529T>C | CA377098540 | DNAJC12 | c.292A>G (p.Lys98Glu) c.*311A>G (n.*311A>G) c.*212A>G (n.*212A>G) c.382A>G (p.Lys128Glu) c.322A>G (p.Lys108Glu) c.46A>G (p.Lys16Glu) | |
| 10 | g.67811529T>G | CA377098539 | DNAJC12 | c.292A>C (p.Lys98Gln) c.*311A>C (n.*311A>C) c.*212A>C (n.*212A>C) c.382A>C (p.Lys128Gln) c.322A>C (p.Lys108Gln) c.46A>C (p.Lys16Gln) | |
| 10 | g.67811530C>A | CA469970047 | DNAJC12 | c.291G>T (p.Val97=) c.*310G>T (n.*310G>T) c.*211G>T (n.*211G>T) c.381G>T (p.Val127=) c.321G>T (p.Val107=) c.45G>T (p.Val15=) | |
| 10 | g.67811530C>G | CA469970045 | DNAJC12 | c.291G>C (p.Val97=) c.*310G>C (n.*310G>C) c.*211G>C (n.*211G>C) c.381G>C (p.Val127=) c.321G>C (p.Val107=) c.45G>C (p.Val15=) | |
| 10 | g.67811530C>T | CA469970046 | DNAJC12 | c.291G>A (p.Val97=) c.*310G>A (n.*310G>A) c.*211G>A (n.*211G>A) c.381G>A (p.Val127=) c.321G>A (p.Val107=) c.45G>A (p.Val15=) | ClinVar gnomAD v4 |
| 10 | g.67811531A>C | CA377098542 | DNAJC12 | c.290T>G (p.Val97Gly) c.*309T>G (n.*309T>G) c.*210T>G (n.*210T>G) c.380T>G (p.Val127Gly) c.320T>G (p.Val107Gly) c.44T>G (p.Val15Gly) | |
| 10 | g.67811531A>G | CA377098543 | DNAJC12 | c.290T>C (p.Val97Ala) c.*309T>C (n.*309T>C) c.*210T>C (n.*210T>C) c.380T>C (p.Val127Ala) c.320T>C (p.Val107Ala) c.44T>C (p.Val15Ala) | |
| 10 | g.67811531A>T | CA377098544 | DNAJC12 | c.290T>A (p.Val97Glu) c.*309T>A (n.*309T>A) c.*210T>A (n.*210T>A) c.380T>A (p.Val127Glu) c.320T>A (p.Val107Glu) c.44T>A (p.Val15Glu) | |
| 10 | g.67811532C>A | CA377098545 | DNAJC12 | c.289G>T (p.Val97Leu) c.*308G>T (n.*308G>T) c.*209G>T (n.*209G>T) c.379G>T (p.Val127Leu) c.319G>T (p.Val107Leu) c.43G>T (p.Val15Leu) | gnomAD v4 COSMIC COSMIC |
| 10 | g.67811532C>G | CA377098546 | DNAJC12 | c.289G>C (p.Val97Leu) c.*308G>C (n.*308G>C) c.*209G>C (n.*209G>C) c.379G>C (p.Val127Leu) c.319G>C (p.Val107Leu) c.43G>C (p.Val15Leu) | |
| 10 | g.67811532C>T | CA377098547 | DNAJC12 | c.289G>A (p.Val97Met) c.*308G>A (n.*308G>A) c.*209G>A (n.*209G>A) c.379G>A (p.Val127Met) c.319G>A (p.Val107Met) c.43G>A (p.Val15Met) | |
| 10 | g.67811533T>A | CA469970048 | DNAJC12 | c.288A>T (p.Ser96=) c.*307A>T (n.*307A>T) c.*208A>T (n.*208A>T) c.378A>T (p.Ser126=) c.318A>T (p.Ser106=) c.42A>T (p.Ser14=) | |
| 10 | g.67811533T>C | CA469970050 | DNAJC12 | c.288A>G (p.Ser96=) c.*307A>G (n.*307A>G) c.*208A>G (n.*208A>G) c.378A>G (p.Ser126=) c.318A>G (p.Ser106=) c.42A>G (p.Ser14=) | gnomAD v4 |
| 10 | g.67811533T>G | CA469970049 | DNAJC12 | c.288A>C (p.Ser96=) c.*307A>C (n.*307A>C) c.*208A>C (n.*208A>C) c.378A>C (p.Ser126=) c.318A>C (p.Ser106=) c.42A>C (p.Ser14=) | |
| 10 | g.67811534G>A | CA5520855 | DNAJC12 | c.287C>T (p.Ser96Leu) c.*306C>T (n.*306C>T) c.*207C>T (n.*207C>T) c.377C>T (p.Ser126Leu) c.317C>T (p.Ser106Leu) c.41C>T (p.Ser14Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811534G>C | CA377098548 | DNAJC12 | c.287C>G (p.Ser96Ter) c.*306C>G (n.*306C>G) c.*207C>G (n.*207C>G) c.377C>G (p.Ser126Ter) c.317C>G (p.Ser106Ter) c.41C>G (p.Ser14Ter) | dbSNP |
| 10 | g.67811534G= | CA1917049453 | DNAJC12 | c.287C= (p.Ser96=) c.*306C= (n.*306C=) c.*207C= (n.*207C=) c.377C= (p.Ser126=) c.317C= (p.Ser106=) c.41C= (p.Ser14=) | |
| 10 | g.67811534G>T | CA377098549 | DNAJC12 | c.287C>A (p.Ser96Ter) c.*306C>A (n.*306C>A) c.*207C>A (n.*207C>A) c.377C>A (p.Ser126Ter) c.317C>A (p.Ser106Ter) c.41C>A (p.Ser14Ter) | |
| 10 | g.67811535A>C | CA377098550 | DNAJC12 | c.286T>G (p.Ser96Ala) c.*305T>G (n.*305T>G) c.*206T>G (n.*206T>G) c.376T>G (p.Ser126Ala) c.316T>G (p.Ser106Ala) c.40T>G (p.Ser14Ala) | |
| 10 | g.67811535A>G | CA377098551 | DNAJC12 | c.286T>C (p.Ser96Pro) c.*305T>C (n.*305T>C) c.*206T>C (n.*206T>C) c.376T>C (p.Ser126Pro) c.316T>C (p.Ser106Pro) c.40T>C (p.Ser14Pro) | |
| 10 | g.67811535A>T | CA377098552 | DNAJC12 | c.286T>A (p.Ser96Thr) c.*305T>A (n.*305T>A) c.*206T>A (n.*206T>A) c.376T>A (p.Ser126Thr) c.316T>A (p.Ser106Thr) c.40T>A (p.Ser14Thr) | |
| 10 | g.67811536G>A | CA5520857 | DNAJC12 | c.285C>T (p.Asp95=) c.*304C>T (n.*304C>T) c.*205C>T (n.*205C>T) c.375C>T (p.Asp125=) c.315C>T (p.Asp105=) c.39C>T (p.Asp13=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.67811536G>C | CA377098553 | DNAJC12 | c.285C>G (p.Asp95Glu) c.*304C>G (n.*304C>G) c.*205C>G (n.*205C>G) c.375C>G (p.Asp125Glu) c.315C>G (p.Asp105Glu) c.39C>G (p.Asp13Glu) | gnomAD v4 |
| 10 | g.67811536G= | CA1917049454 | DNAJC12 | c.285C= (p.Asp95=) c.*304C= (n.*304C=) c.*205C= (n.*205C=) c.375C= (p.Asp125=) c.315C= (p.Asp105=) c.39C= (p.Asp13=) | |
| 10 | g.67811536G>T | CA5520856 | DNAJC12 | c.285C>A (p.Asp95Glu) c.*304C>A (n.*304C>A) c.*205C>A (n.*205C>A) c.375C>A (p.Asp125Glu) c.315C>A (p.Asp105Glu) c.39C>A (p.Asp13Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811537T>A | CA377098554 | DNAJC12 | c.284A>T (p.Asp95Val) c.*303A>T (n.*303A>T) c.*204A>T (n.*204A>T) c.374A>T (p.Asp125Val) c.314A>T (p.Asp105Val) c.38A>T (p.Asp13Val) | |
| 10 | g.67811537T>C | CA377098555 | DNAJC12 | c.284A>G (p.Asp95Gly) c.*303A>G (n.*303A>G) c.*204A>G (n.*204A>G) c.374A>G (p.Asp125Gly) c.314A>G (p.Asp105Gly) c.38A>G (p.Asp13Gly) | |
| 10 | g.67811537T>G | CA377098556 | DNAJC12 | c.284A>C (p.Asp95Ala) c.*303A>C (n.*303A>C) c.*204A>C (n.*204A>C) c.374A>C (p.Asp125Ala) c.314A>C (p.Asp105Ala) c.38A>C (p.Asp13Ala) | |
| 10 | g.67811538C>A | CA377098557 | DNAJC12 | c.283G>T (p.Asp95Tyr) c.*302G>T (n.*302G>T) c.*203G>T (n.*203G>T) c.373G>T (p.Asp125Tyr) c.313G>T (p.Asp105Tyr) c.37G>T (p.Asp13Tyr) | |
| 10 | g.67811538C= | CA1917049455 | DNAJC12 | c.283G= (p.Asp95=) c.*302G= (n.*302G=) c.*203G= (n.*203G=) c.373G= (p.Asp125=) c.313G= (p.Asp105=) c.37G= (p.Asp13=) | |
| 10 | g.67811538C>G | CA377098558 | DNAJC12 | c.283G>C (p.Asp95His) c.*302G>C (n.*302G>C) c.*203G>C (n.*203G>C) c.373G>C (p.Asp125His) c.313G>C (p.Asp105His) c.37G>C (p.Asp13His) | |
| 10 | g.67811538C>T | CA5520858 | DNAJC12 | c.283G>A (p.Asp95Asn) c.*302G>A (n.*302G>A) c.*203G>A (n.*203G>A) c.373G>A (p.Asp125Asn) c.313G>A (p.Asp105Asn) c.37G>A (p.Asp13Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811539A= | CA1917049456 | DNAJC12 | c.282T= (p.Asn94=) c.*301T= (n.*301T=) c.*202T= (n.*202T=) c.372T= (p.Asn124=) c.312T= (p.Asn104=) c.36T= (p.Asn12=) | |
| 10 | g.67811539A>C | CA377098559 | DNAJC12 | c.282T>G (p.Asn94Lys) c.*301T>G (n.*301T>G) c.*202T>G (n.*202T>G) c.372T>G (p.Asn124Lys) c.312T>G (p.Asn104Lys) c.36T>G (p.Asn12Lys) | |
| 10 | g.67811539A>G | CA209166003 | DNAJC12 | c.282T>C (p.Asn94=) c.*301T>C (n.*301T>C) c.*202T>C (n.*202T>C) c.372T>C (p.Asn124=) c.312T>C (p.Asn104=) c.36T>C (p.Asn12=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811539A>T | CA377098560 | DNAJC12 | c.282T>A (p.Asn94Lys) c.*301T>A (n.*301T>A) c.*202T>A (n.*202T>A) c.372T>A (p.Asn124Lys) c.312T>A (p.Asn104Lys) c.36T>A (p.Asn12Lys) | |
| 10 | g.67811540T>A | CA377098561 | DNAJC12 | c.281A>T (p.Asn94Ile) c.*300A>T (n.*300A>T) c.*201A>T (n.*201A>T) c.371A>T (p.Asn124Ile) c.311A>T (p.Asn104Ile) c.35A>T (p.Asn12Ile) | |
| 10 | g.67811540T>C | CA209166004 | DNAJC12 | c.281A>G (p.Asn94Ser) c.*300A>G (n.*300A>G) c.*201A>G (n.*201A>G) c.371A>G (p.Asn124Ser) c.311A>G (p.Asn104Ser) c.35A>G (p.Asn12Ser) | dbSNP |
| 10 | g.67811540T>G | CA377098562 | DNAJC12 | c.281A>C (p.Asn94Thr) c.*300A>C (n.*300A>C) c.*201A>C (n.*201A>C) c.371A>C (p.Asn124Thr) c.311A>C (p.Asn104Thr) c.35A>C (p.Asn12Thr) | |
| 10 | g.67811540T= | CA1917049457 | DNAJC12 | c.281A= (p.Asn94=) c.*300A= (n.*300A=) c.*201A= (n.*201A=) c.371A= (p.Asn124=) c.311A= (p.Asn104=) c.35A= (p.Asn12=) | |
| 10 | g.67811541T>A | CA377098564 | DNAJC12 | c.280A>T (p.Asn94Tyr) c.*299A>T (n.*299A>T) c.*200A>T (n.*200A>T) c.370A>T (p.Asn124Tyr) c.310A>T (p.Asn104Tyr) c.34A>T (p.Asn12Tyr) | |
| 10 | g.67811541T>C | CA5520859 | DNAJC12 | c.280A>G (p.Asn94Asp) c.*299A>G (n.*299A>G) c.*200A>G (n.*200A>G) c.370A>G (p.Asn124Asp) c.310A>G (p.Asn104Asp) c.34A>G (p.Asn12Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.67811541T>G | CA377098563 | DNAJC12 | c.280A>C (p.Asn94His) c.*299A>C (n.*299A>C) c.*200A>C (n.*200A>C) c.370A>C (p.Asn124His) c.310A>C (p.Asn104His) c.34A>C (p.Asn12His) | |
| 10 | g.67811541T= | CA1917049458 | DNAJC12 | c.280A= (p.Asn94=) c.*299A= (n.*299A=) c.*200A= (n.*200A=) c.370A= (p.Asn124=) c.310A= (p.Asn104=) c.34A= (p.Asn12=) | |
| 10 | g.67811542C>A | CA377098566 | DNAJC12 | c.279G>T (p.Leu93Phe) c.*298G>T (n.*298G>T) c.*199G>T (n.*199G>T) c.369G>T (p.Leu123Phe) c.309G>T (p.Leu103Phe) c.33G>T (p.Leu11Phe) | |
| 10 | g.67811542C>G | CA377098565 | DNAJC12 | c.279G>C (p.Leu93Phe) c.*298G>C (n.*298G>C) c.*199G>C (n.*199G>C) c.369G>C (p.Leu123Phe) c.309G>C (p.Leu103Phe) c.33G>C (p.Leu11Phe) | |
| 10 | g.67811542C>T | CA469970051 | DNAJC12 | c.279G>A (p.Leu93=) c.*298G>A (n.*298G>A) c.*199G>A (n.*199G>A) c.369G>A (p.Leu123=) c.309G>A (p.Leu103=) c.33G>A (p.Leu11=) | |
| 10 | g.67811543A>C | CA377098567 | DNAJC12 | c.278T>G (p.Leu93Trp) c.*297T>G (n.*297T>G) c.*198T>G (n.*198T>G) c.368T>G (p.Leu123Trp) c.308T>G (p.Leu103Trp) c.32T>G (p.Leu11Trp) | |
| 10 | g.67811543A>G | CA377098568 | DNAJC12 | c.278T>C (p.Leu93Ser) c.*297T>C (n.*297T>C) c.*198T>C (n.*198T>C) c.368T>C (p.Leu123Ser) c.308T>C (p.Leu103Ser) c.32T>C (p.Leu11Ser) | |
| 10 | g.67811543A>T | CA377098569 | DNAJC12 | c.278T>A (p.Leu93Ter) c.*297T>A (n.*297T>A) c.*198T>A (n.*198T>A) c.368T>A (p.Leu123Ter) c.308T>A (p.Leu103Ter) c.32T>A (p.Leu11Ter) | |
| 10 | g.67811544A>C | CA377098570 | DNAJC12 | c.277T>G (p.Leu93Val) c.*296T>G (n.*296T>G) c.*197T>G (n.*197T>G) c.367T>G (p.Leu123Val) c.307T>G (p.Leu103Val) c.31T>G (p.Leu11Val) | |
| 10 | g.67811544A>G | CA469970052 | DNAJC12 | c.277T>C (p.Leu93=) c.*296T>C (n.*296T>C) c.*197T>C (n.*197T>C) c.367T>C (p.Leu123=) c.307T>C (p.Leu103=) c.31T>C (p.Leu11=) | gnomAD v4 |
| 10 | g.67811544A>T | CA377098571 | DNAJC12 | c.277T>A (p.Leu93Met) c.*296T>A (n.*296T>A) c.*197T>A (n.*197T>A) c.367T>A (p.Leu123Met) c.307T>A (p.Leu103Met) c.31T>A (p.Leu11Met) | |
| 10 | g.67811545A>C | CA469970053 | DNAJC12 | c.276T>G (p.Ala92=) c.*295T>G (n.*295T>G) c.*196T>G (n.*196T>G) c.366T>G (p.Ala122=) c.306T>G (p.Ala102=) c.30T>G (p.Ala10=) | |
| 10 | g.67811545A>G | CA469970054 | DNAJC12 | c.276T>C (p.Ala92=) c.*295T>C (n.*295T>C) c.*196T>C (n.*196T>C) c.366T>C (p.Ala122=) c.306T>C (p.Ala102=) c.30T>C (p.Ala10=) | |
| 10 | g.67811545A>T | CA469970055 | DNAJC12 | c.276T>A (p.Ala92=) c.*295T>A (n.*295T>A) c.*196T>A (n.*196T>A) c.366T>A (p.Ala122=) c.306T>A (p.Ala102=) c.30T>A (p.Ala10=) | |
| 10 | g.67811546G>A | CA377098574 | DNAJC12 | c.275C>T (p.Ala92Val) c.*294C>T (n.*294C>T) c.*195C>T (n.*195C>T) c.365C>T (p.Ala122Val) c.305C>T (p.Ala102Val) c.29C>T (p.Ala10Val) | gnomAD v4 |
| 10 | g.67811546G>C | CA377098572 | DNAJC12 | c.275C>G (p.Ala92Gly) c.*294C>G (n.*294C>G) c.*195C>G (n.*195C>G) c.365C>G (p.Ala122Gly) c.305C>G (p.Ala102Gly) c.29C>G (p.Ala10Gly) | |
| 10 | g.67811546G>T | CA377098573 | DNAJC12 | c.275C>A (p.Ala92Asp) c.*294C>A (n.*294C>A) c.*195C>A (n.*195C>A) c.365C>A (p.Ala122Asp) c.305C>A (p.Ala102Asp) c.29C>A (p.Ala10Asp) | |
| 10 | g.67811547C>A | CA377098575 | DNAJC12 | c.274G>T (p.Ala92Ser) c.*293G>T (n.*293G>T) c.*194G>T (n.*194G>T) c.364G>T (p.Ala122Ser) c.304G>T (p.Ala102Ser) c.28G>T (p.Ala10Ser) | |
| 10 | g.67811547C>G | CA377098576 | DNAJC12 | c.274G>C (p.Ala92Pro) c.*293G>C (n.*293G>C) c.*194G>C (n.*194G>C) c.364G>C (p.Ala122Pro) c.304G>C (p.Ala102Pro) c.28G>C (p.Ala10Pro) | |
| 10 | g.67811547C>T | CA377098577 | DNAJC12 | c.274G>A (p.Ala92Thr) c.*293G>A (n.*293G>A) c.*194G>A (n.*194G>A) c.364G>A (p.Ala122Thr) c.304G>A (p.Ala102Thr) c.28G>A (p.Ala10Thr) | |
| 10 | g.67811548T>A | CA377098578 | DNAJC12 | c.273A>T (p.Glu91Asp) c.*292A>T (n.*292A>T) c.*193A>T (n.*193A>T) c.363A>T (p.Glu121Asp) c.303A>T (p.Glu101Asp) c.27A>T (p.Glu9Asp) | |
| 10 | g.67811548T>C | CA469970056 | DNAJC12 | c.273A>G (p.Glu91=) c.*292A>G (n.*292A>G) c.*193A>G (n.*193A>G) c.363A>G (p.Glu121=) c.303A>G (p.Glu101=) c.27A>G (p.Glu9=) | dbSNP gnomAD v4 |
| 10 | g.67811548T>G | CA377098579 | DNAJC12 | c.273A>C (p.Glu91Asp) c.*292A>C (n.*292A>C) c.*193A>C (n.*193A>C) c.363A>C (p.Glu121Asp) c.303A>C (p.Glu101Asp) c.27A>C (p.Glu9Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811548T= | CA1917049459 | DNAJC12 | c.273A= (p.Glu91=) c.*292A= (n.*292A=) c.*193A= (n.*193A=) c.363A= (p.Glu121=) c.303A= (p.Glu101=) c.27A= (p.Glu9=) | |
| 10 | g.67811549T>A | CA377098580 | DNAJC12 | c.272A>T (p.Glu91Val) c.*291A>T (n.*291A>T) c.*192A>T (n.*192A>T) c.362A>T (p.Glu121Val) c.302A>T (p.Glu101Val) c.26A>T (p.Glu9Val) | |
| 10 | g.67811549T>C | CA377098582 | DNAJC12 | c.272A>G (p.Glu91Gly) c.*291A>G (n.*291A>G) c.*192A>G (n.*192A>G) c.362A>G (p.Glu121Gly) c.302A>G (p.Glu101Gly) c.26A>G (p.Glu9Gly) | |
| 10 | g.67811549T>G | CA377098581 | DNAJC12 | c.272A>C (p.Glu91Ala) c.*291A>C (n.*291A>C) c.*192A>C (n.*192A>C) c.362A>C (p.Glu121Ala) c.302A>C (p.Glu101Ala) c.26A>C (p.Glu9Ala) | |
| 10 | g.67811550C>A | CA377098583 | DNAJC12 | c.271G>T (p.Glu91Ter) c.*290G>T (n.*290G>T) c.*191G>T (n.*191G>T) c.361G>T (p.Glu121Ter) c.301G>T (p.Glu101Ter) c.25G>T (p.Glu9Ter) | |
| 10 | g.67811550C= | CA1917049460 | DNAJC12 | c.271G= (p.Glu91=) c.*290G= (n.*290G=) c.*191G= (n.*191G=) c.361G= (p.Glu121=) c.301G= (p.Glu101=) c.25G= (p.Glu9=) | |
| 10 | g.67811550C>G | CA377098584 | DNAJC12 | c.271G>C (p.Glu91Gln) c.*290G>C (n.*290G>C) c.*191G>C (n.*191G>C) c.361G>C (p.Glu121Gln) c.301G>C (p.Glu101Gln) c.25G>C (p.Glu9Gln) | |
| 10 | g.67811550C>T | CA5520860 | DNAJC12 | c.271G>A (p.Glu91Lys) c.*290G>A (n.*290G>A) c.*191G>A (n.*191G>A) c.361G>A (p.Glu121Lys) c.301G>A (p.Glu101Lys) c.25G>A (p.Glu9Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811551C>A | CA377098585 | DNAJC12 | c.270G>T (p.Trp90Cys) c.*289G>T (n.*289G>T) c.*190G>T (n.*190G>T) c.360G>T (p.Trp120Cys) c.300G>T (p.Trp100Cys) c.24G>T (p.Trp8Cys) | |
| 10 | g.67811551C>G | CA377098586 | DNAJC12 | c.270G>C (p.Trp90Cys) c.*289G>C (n.*289G>C) c.*190G>C (n.*190G>C) c.360G>C (p.Trp120Cys) c.300G>C (p.Trp100Cys) c.24G>C (p.Trp8Cys) | |
| 10 | g.67811551C>T | CA377098587 | DNAJC12 | c.270G>A (p.Trp90Ter) c.*289G>A (n.*289G>A) c.*190G>A (n.*190G>A) c.360G>A (p.Trp120Ter) c.300G>A (p.Trp100Ter) c.24G>A (p.Trp8Ter) | |
| 10 | g.67811552C>A | CA377098588 | DNAJC12 | c.269G>T (p.Trp90Leu) c.*288G>T (n.*288G>T) c.*189G>T (n.*189G>T) c.359G>T (p.Trp120Leu) c.299G>T (p.Trp100Leu) c.23G>T (p.Trp8Leu) | |
| 10 | g.67811552C= | CA1917049461 | DNAJC12 | c.269G= (p.Trp90=) c.*288G= (n.*288G=) c.*189G= (n.*189G=) c.359G= (p.Trp120=) c.299G= (p.Trp100=) c.23G= (p.Trp8=) | |
| 10 | g.67811552C>G | CA377098589 | DNAJC12 | c.269G>C (p.Trp90Ser) c.*288G>C (n.*288G>C) c.*189G>C (n.*189G>C) c.359G>C (p.Trp120Ser) c.299G>C (p.Trp100Ser) c.23G>C (p.Trp8Ser) | |
| 10 | g.67811552C>T | CA377098590 | DNAJC12 | c.269G>A (p.Trp90Ter) c.*288G>A (n.*288G>A) c.*189G>A (n.*189G>A) c.359G>A (p.Trp120Ter) c.299G>A (p.Trp100Ter) c.23G>A (p.Trp8Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811553A>C | CA377098591 | DNAJC12 | c.268T>G (p.Trp90Gly) c.*287T>G (n.*287T>G) c.*188T>G (n.*188T>G) c.358T>G (p.Trp120Gly) c.298T>G (p.Trp100Gly) c.22T>G (p.Trp8Gly) | |
| 10 | g.67811553A>G | CA377098592 | DNAJC12 | c.268T>C (p.Trp90Arg) c.*287T>C (n.*287T>C) c.*188T>C (n.*188T>C) c.358T>C (p.Trp120Arg) c.298T>C (p.Trp100Arg) c.22T>C (p.Trp8Arg) | |
| 10 | g.67811553A>T | CA377098593 | DNAJC12 | c.268T>A (p.Trp90Arg) c.*287T>A (n.*287T>A) c.*188T>A (n.*188T>A) c.358T>A (p.Trp120Arg) c.298T>A (p.Trp100Arg) c.22T>A (p.Trp8Arg) | |
| 10 | g.67811554C>A | CA377098595 | DNAJC12 | c.267G>T (p.Gln89His) c.*286G>T (n.*286G>T) c.*187G>T (n.*187G>T) c.357G>T (p.Gln119His) c.297G>T (p.Gln99His) c.21G>T (p.Gln7His) | |
| 10 | g.67811554C= | CA1917049462 | DNAJC12 | c.267G= (p.Gln89=) c.*286G= (n.*286G=) c.*187G= (n.*187G=) c.357G= (p.Gln119=) c.297G= (p.Gln99=) c.21G= (p.Gln7=) | |
| 10 | g.67811554C>G | CA377098594 | DNAJC12 | c.267G>C (p.Gln89His) c.*286G>C (n.*286G>C) c.*187G>C (n.*187G>C) c.357G>C (p.Gln119His) c.297G>C (p.Gln99His) c.21G>C (p.Gln7His) | |
| 10 | g.67811554C>T | CA469970057 | DNAJC12 | c.267G>A (p.Gln89=) c.*286G>A (n.*286G>A) c.*187G>A (n.*187G>A) c.357G>A (p.Gln119=) c.297G>A (p.Gln99=) c.21G>A (p.Gln7=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811555T>A | CA377098596 | DNAJC12 | c.266A>T (p.Gln89Leu) c.*285A>T (n.*285A>T) c.*186A>T (n.*186A>T) c.356A>T (p.Gln119Leu) c.296A>T (p.Gln99Leu) c.20A>T (p.Gln7Leu) | |
| 10 | g.67811555T>C | CA377098598 | DNAJC12 | c.266A>G (p.Gln89Arg) c.*285A>G (n.*285A>G) c.*186A>G (n.*186A>G) c.356A>G (p.Gln119Arg) c.296A>G (p.Gln99Arg) c.20A>G (p.Gln7Arg) | |
| 10 | g.67811555T>G | CA377098597 | DNAJC12 | c.266A>C (p.Gln89Pro) c.*285A>C (n.*285A>C) c.*186A>C (n.*186A>C) c.356A>C (p.Gln119Pro) c.296A>C (p.Gln99Pro) c.20A>C (p.Gln7Pro) | dbSNP |
| 10 | g.67811555T= | CA1917049463 | DNAJC12 | c.266A= (p.Gln89=) c.*285A= (n.*285A=) c.*186A= (n.*186A=) c.356A= (p.Gln119=) c.296A= (p.Gln99=) c.20A= (p.Gln7=) | |
| 10 | g.67811556G>A | CA377098599 | DNAJC12 | c.265C>T (p.Gln89Ter) c.*284C>T (n.*284C>T) c.*185C>T (n.*185C>T) c.355C>T (p.Gln119Ter) c.295C>T (p.Gln99Ter) c.19C>T (p.Gln7Ter) | |
| 10 | g.67811556G>C | CA377098600 | DNAJC12 | c.265C>G (p.Gln89Glu) c.*284C>G (n.*284C>G) c.*185C>G (n.*185C>G) c.355C>G (p.Gln119Glu) c.295C>G (p.Gln99Glu) c.19C>G (p.Gln7Glu) | |
| 10 | g.67811556G>T | CA377098601 | DNAJC12 | c.265C>A (p.Gln89Lys) c.*284C>A (n.*284C>A) c.*185C>A (n.*185C>A) c.355C>A (p.Gln119Lys) c.295C>A (p.Gln99Lys) c.19C>A (p.Gln7Lys) | |
| 10 | g.67811557C>A | CA377098602 | DNAJC12 | c.264G>T (p.Gln88His) c.*283G>T (n.*283G>T) c.*184G>T (n.*184G>T) c.354G>T (p.Gln118His) c.294G>T (p.Gln98His) c.18G>T (p.Gln6His) | COSMIC COSMIC |
| 10 | g.67811557C>G | CA377098603 | DNAJC12 | c.264G>C (p.Gln88His) c.*283G>C (n.*283G>C) c.*184G>C (n.*184G>C) c.354G>C (p.Gln118His) c.294G>C (p.Gln98His) c.18G>C (p.Gln6His) | |
| 10 | g.67811557C>T | CA469970058 | DNAJC12 | c.264G>A (p.Gln88=) c.*283G>A (n.*283G>A) c.*184G>A (n.*184G>A) c.354G>A (p.Gln118=) c.294G>A (p.Gln98=) c.18G>A (p.Gln6=) | |
| 10 | g.67811558T>A | CA377098604 | DNAJC12 | c.263A>T (p.Gln88Leu) c.*282A>T (n.*282A>T) c.*183A>T (n.*183A>T) c.353A>T (p.Gln118Leu) c.293A>T (p.Gln98Leu) c.17A>T (p.Gln6Leu) | |
| 10 | g.67811558T>C | CA377098605 | DNAJC12 | c.263A>G (p.Gln88Arg) c.*282A>G (n.*282A>G) c.*183A>G (n.*183A>G) c.353A>G (p.Gln118Arg) c.293A>G (p.Gln98Arg) c.17A>G (p.Gln6Arg) | |
| 10 | g.67811558T>G | CA377098606 | DNAJC12 | c.263A>C (p.Gln88Pro) c.*282A>C (n.*282A>C) c.*183A>C (n.*183A>C) c.353A>C (p.Gln118Pro) c.293A>C (p.Gln98Pro) c.17A>C (p.Gln6Pro) | |
| 10 | g.67811558_67811559delinsTG | CA1917049464 | DNAJC12 | c.262_263delinsCA (p.Gln88=) c.*281_*282delinsCA (n.*281_*282delinsCA) c.*182_*183delinsCA (n.*182_*183delinsCA) c.352_353delinsCA (p.Gln118=) c.292_293delinsCA (p.Gln98=) c.16_17delinsCA (p.Gln6=) | |
| 10 | g.67811559G>A | CA377098607 | DNAJC12 | c.262C>T (p.Gln88Ter) c.*281C>T (n.*281C>T) c.*182C>T (n.*182C>T) c.352C>T (p.Gln118Ter) c.292C>T (p.Gln98Ter) c.16C>T (p.Gln6Ter) | gnomAD v4 |
| 10 | g.67811559G>C | CA377098608 | DNAJC12 | c.262C>G (p.Gln88Glu) c.*281C>G (n.*281C>G) c.*182C>G (n.*182C>G) c.352C>G (p.Gln118Glu) c.292C>G (p.Gln98Glu) c.16C>G (p.Gln6Glu) | |
| 10 | g.67811559G>T | CA377098609 | DNAJC12 | c.262C>A (p.Gln88Lys) c.*281C>A (n.*281C>A) c.*182C>A (n.*182C>A) c.352C>A (p.Gln118Lys) c.292C>A (p.Gln98Lys) c.16C>A (p.Gln6Lys) | |
| 10 | g.67811560del | CA5520861 | DNAJC12 | c.262del (p.Gln88SerfsTer6) c.*281del (n.*281del) c.*182del (n.*182del) c.352del (p.Gln118SerfsTer6) c.292del (p.Gln98SerfsTer6) c.16del (p.Gln6SerfsTer6) | dbSNP ExAC gnomAD v2 |
| 10 | g.67811560G>A | CA469970059 | DNAJC12 | c.261C>T (p.Phe87=) c.*280C>T (n.*280C>T) c.*181C>T (n.*181C>T) c.351C>T (p.Phe117=) c.291C>T (p.Phe97=) c.15C>T (p.Phe5=) | dbSNP |
| 10 | g.67811560G>C | CA377098610 | DNAJC12 | c.261C>G (p.Phe87Leu) c.*280C>G (n.*280C>G) c.*181C>G (n.*181C>G) c.351C>G (p.Phe117Leu) c.291C>G (p.Phe97Leu) c.15C>G (p.Phe5Leu) | |
| 10 | g.67811560G= | CA1917049465 | DNAJC12 | c.261C= (p.Phe87=) c.*280C= (n.*280C=) c.*181C= (n.*181C=) c.351C= (p.Phe117=) c.291C= (p.Phe97=) c.15C= (p.Phe5=) | |
| 10 | g.67811560G>T | CA377098611 | DNAJC12 | c.261C>A (p.Phe87Leu) c.*280C>A (n.*280C>A) c.*181C>A (n.*181C>A) c.351C>A (p.Phe117Leu) c.291C>A (p.Phe97Leu) c.15C>A (p.Phe5Leu) | |
| 10 | g.67811561A= | CA1917049466 | DNAJC12 | c.260T= (p.Phe87=) c.*279T= (n.*279T=) c.*180T= (n.*180T=) c.350T= (p.Phe117=) c.290T= (p.Phe97=) c.14T= (p.Phe5=) | |
| 10 | g.67811561A>C | CA377098612 | DNAJC12 | c.260T>G (p.Phe87Cys) c.*279T>G (n.*279T>G) c.*180T>G (n.*180T>G) c.350T>G (p.Phe117Cys) c.290T>G (p.Phe97Cys) c.14T>G (p.Phe5Cys) | |
| 10 | g.67811561A>G | CA377098613 | DNAJC12 | c.260T>C (p.Phe87Ser) c.*279T>C (n.*279T>C) c.*180T>C (n.*180T>C) c.350T>C (p.Phe117Ser) c.290T>C (p.Phe97Ser) c.14T>C (p.Phe5Ser) | dbSNP |
| 10 | g.67811561A>T | CA377098614 | DNAJC12 | c.260T>A (p.Phe87Tyr) c.*279T>A (n.*279T>A) c.*180T>A (n.*180T>A) c.350T>A (p.Phe117Tyr) c.290T>A (p.Phe97Tyr) c.14T>A (p.Phe5Tyr) | |
| 10 | g.67811562A>C | CA377098615 | DNAJC12 | c.259T>G (p.Phe87Val) c.*278T>G (n.*278T>G) c.*179T>G (n.*179T>G) c.349T>G (p.Phe117Val) c.289T>G (p.Phe97Val) c.13T>G (p.Phe5Val) | |
| 10 | g.67811562A>G | CA377098616 | DNAJC12 | c.259T>C (p.Phe87Leu) c.*278T>C (n.*278T>C) c.*179T>C (n.*179T>C) c.349T>C (p.Phe117Leu) c.289T>C (p.Phe97Leu) c.13T>C (p.Phe5Leu) | |
| 10 | g.67811562A>T | CA377098617 | DNAJC12 | c.259T>A (p.Phe87Ile) c.*278T>A (n.*278T>A) c.*179T>A (n.*179T>A) c.349T>A (p.Phe117Ile) c.289T>A (p.Phe97Ile) c.13T>A (p.Phe5Ile) | |
| 10 | g.67811563T>A | CA469970060 | DNAJC12 | c.258A>T (p.Pro86=) c.*277A>T (n.*277A>T) c.*178A>T (n.*178A>T) c.348A>T (p.Pro116=) c.288A>T (p.Pro96=) c.12A>T (p.Pro4=) | dbSNP |
| 10 | g.67811563T>C | CA5520862 | DNAJC12 | c.258A>G (p.Pro86=) c.*277A>G (n.*277A>G) c.*178A>G (n.*178A>G) c.348A>G (p.Pro116=) c.288A>G (p.Pro96=) c.12A>G (p.Pro4=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.67811563T>G | CA469970061 | DNAJC12 | c.258A>C (p.Pro86=) c.*277A>C (n.*277A>C) c.*178A>C (n.*178A>C) c.348A>C (p.Pro116=) c.288A>C (p.Pro96=) c.12A>C (p.Pro4=) | |
| 10 | g.67811563T= | CA1917049467 | DNAJC12 | c.258A= (p.Pro86=) c.*277A= (n.*277A=) c.*178A= (n.*178A=) c.348A= (p.Pro116=) c.288A= (p.Pro96=) c.12A= (p.Pro4=) | |
| 10 | g.67811564G>A | CA377098618 | DNAJC12 | c.257C>T (p.Pro86Leu) c.*276C>T (n.*276C>T) c.*177C>T (n.*177C>T) c.347C>T (p.Pro116Leu) c.287C>T (p.Pro96Leu) c.11C>T (p.Pro4Leu) | |
| 10 | g.67811564G>C | CA377098619 | DNAJC12 | c.257C>G (p.Pro86Arg) c.*276C>G (n.*276C>G) c.*177C>G (n.*177C>G) c.347C>G (p.Pro116Arg) c.287C>G (p.Pro96Arg) c.11C>G (p.Pro4Arg) | |
| 10 | g.67811564G>T | CA377098620 | DNAJC12 | c.257C>A (p.Pro86Gln) c.*276C>A (n.*276C>A) c.*177C>A (n.*177C>A) c.347C>A (p.Pro116Gln) c.287C>A (p.Pro96Gln) c.11C>A (p.Pro4Gln) | |
| 10 | g.67811565G>A | CA377098621 | DNAJC12 | c.256C>T (p.Pro86Ser) c.*275C>T (n.*275C>T) c.*176C>T (n.*176C>T) c.346C>T (p.Pro116Ser) c.286C>T (p.Pro96Ser) c.10C>T (p.Pro4Ser) | |
| 10 | g.67811565G>C | CA377098622 | DNAJC12 | c.256C>G (p.Pro86Ala) c.*275C>G (n.*275C>G) c.*176C>G (n.*176C>G) c.346C>G (p.Pro116Ala) c.286C>G (p.Pro96Ala) c.10C>G (p.Pro4Ala) | |
| 10 | g.67811565G= | CA1917049468 | DNAJC12 | c.256C= (p.Pro86=) c.*275C= (n.*275C=) c.*176C= (n.*176C=) c.346C= (p.Pro116=) c.286C= (p.Pro96=) c.10C= (p.Pro4=) | |
| 10 | g.67811565G>T | CA377098623 | DNAJC12 | c.256C>A (p.Pro86Thr) c.*275C>A (n.*275C>A) c.*176C>A (n.*176C>A) c.346C>A (p.Pro116Thr) c.286C>A (p.Pro96Thr) c.10C>A (p.Pro4Thr) | dbSNP |
| 10 | g.67811566C>A | CA377098624 | DNAJC12 | c.255G>T (p.Met85Ile) c.*274G>T (n.*274G>T) c.*175G>T (n.*175G>T) c.345G>T (p.Met115Ile) c.285G>T (p.Met95Ile) c.9G>T (p.Met3Ile) | |
| 10 | g.67811566C= | CA1917049469 | DNAJC12 | c.255G= (p.Met85=) c.*274G= (n.*274G=) c.*175G= (n.*175G=) c.345G= (p.Met115=) c.285G= (p.Met95=) c.9G= (p.Met3=) | |
| 10 | g.67811566C>G | CA377098626 | DNAJC12 | c.255G>C (p.Met85Ile) c.*274G>C (n.*274G>C) c.*175G>C (n.*175G>C) c.345G>C (p.Met115Ile) c.285G>C (p.Met95Ile) c.9G>C (p.Met3Ile) | |
| 10 | g.67811566C>T | CA377098625 | DNAJC12 | c.255G>A (p.Met85Ile) c.*274G>A (n.*274G>A) c.*175G>A (n.*175G>A) c.345G>A (p.Met115Ile) c.285G>A (p.Met95Ile) c.9G>A (p.Met3Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.67811567A>C | CA377098627 | DNAJC12 | c.254T>G (p.Met85Arg) c.*273T>G (n.*273T>G) c.*174T>G (n.*174T>G) c.344T>G (p.Met115Arg) c.284T>G (p.Met95Arg) c.8T>G (p.Met3Arg) | |
| 10 | g.67811567A>G | CA377098629 | DNAJC12 | c.254T>C (p.Met85Thr) c.*273T>C (n.*273T>C) c.*174T>C (n.*174T>C) c.344T>C (p.Met115Thr) c.284T>C (p.Met95Thr) c.8T>C (p.Met3Thr) | gnomAD v4 |
| 10 | g.67811567A>T | CA377098628 | DNAJC12 | c.254T>A (p.Met85Lys) c.*273T>A (n.*273T>A) c.*174T>A (n.*174T>A) c.344T>A (p.Met115Lys) c.284T>A (p.Met95Lys) c.8T>A (p.Met3Lys) | |
| 10 | g.67811568T>A | CA377098630 | DNAJC12 | c.253A>T (p.Met85Leu) c.*272A>T (n.*272A>T) c.*173A>T (n.*173A>T) c.343A>T (p.Met115Leu) c.283A>T (p.Met95Leu) c.7A>T (p.Met3Leu) | |
| 10 | g.67811568T>C | CA5520863 | DNAJC12 | c.253A>G (p.Met85Val) c.*272A>G (n.*272A>G) c.*173A>G (n.*173A>G) c.343A>G (p.Met115Val) c.283A>G (p.Met95Val) c.7A>G (p.Met3Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.67811568T>G | CA377098631 | DNAJC12 | c.253A>C (p.Met85Leu) c.*272A>C (n.*272A>C) c.*173A>C (n.*173A>C) c.343A>C (p.Met115Leu) c.283A>C (p.Met95Leu) c.7A>C (p.Met3Leu) | |
| 10 | g.67811568T= | CA1917049470 | DNAJC12 | c.253A= (p.Met85=) c.*272A= (n.*272A=) c.*173A= (n.*173A=) c.343A= (p.Met115=) c.283A= (p.Met95=) c.7A= (p.Met3=) | |
| 10 | g.67811569C>A | CA469970062 | DNAJC12 | c.252G>T (p.Ser84=) c.*271G>T (n.*271G>T) c.*172G>T (n.*172G>T) c.342G>T (p.Ser114=) c.282G>T (p.Ser94=) c.6G>T (p.Ser2=) | |
| 10 | g.67811569C= | CA1917049471 | DNAJC12 | c.252G= (p.Ser84=) c.*271G= (n.*271G=) c.*172G= (n.*172G=) c.342G= (p.Ser114=) c.282G= (p.Ser94=) c.6G= (p.Ser2=) | |
| 10 | g.67811569C>G | CA5520865 | DNAJC12 | c.252G>C (p.Ser84=) c.*271G>C (n.*271G>C) c.*172G>C (n.*172G>C) c.342G>C (p.Ser114=) c.282G>C (p.Ser94=) c.6G>C (p.Ser2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811569C>T | CA5520864 | DNAJC12 | c.252G>A (p.Ser84=) c.*271G>A (n.*271G>A) c.*172G>A (n.*172G>A) c.342G>A (p.Ser114=) c.282G>A (p.Ser94=) c.6G>A (p.Ser2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811570G>A | CA5520867 | DNAJC12 | c.251C>T (p.Ser84Leu) c.*270C>T (n.*270C>T) c.*171C>T (n.*171C>T) c.341C>T (p.Ser114Leu) c.281C>T (p.Ser94Leu) c.5C>T (p.Ser2Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.67811570G>C | CA5520866 | DNAJC12 | c.251C>G (p.Ser84Trp) c.*270C>G (n.*270C>G) c.*171C>G (n.*171C>G) c.341C>G (p.Ser114Trp) c.281C>G (p.Ser94Trp) c.5C>G (p.Ser2Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811570G= | CA1917049472 | DNAJC12 | c.251C= (p.Ser84=) c.*270C= (n.*270C=) c.*171C= (n.*171C=) c.341C= (p.Ser114=) c.281C= (p.Ser94=) c.5C= (p.Ser2=) | |
| 10 | g.67811570G>T | CA377098632 | DNAJC12 | c.251C>A (p.Ser84Ter) c.*270C>A (n.*270C>A) c.*171C>A (n.*171C>A) c.341C>A (p.Ser114Ter) c.281C>A (p.Ser94Ter) c.5C>A (p.Ser2Ter) | |
| 10 | g.67811571A>C | CA377098633 | DNAJC12 | c.250T>G (p.Ser84Ala) c.*269T>G (n.*269T>G) c.*170T>G (n.*170T>G) c.340T>G (p.Ser114Ala) c.280T>G (p.Ser94Ala) c.4T>G (p.Ser2Ala) | |
| 10 | g.67811571A>G | CA377098634 | DNAJC12 | c.250T>C (p.Ser84Pro) c.*269T>C (n.*269T>C) c.*170T>C (n.*170T>C) c.340T>C (p.Ser114Pro) c.280T>C (p.Ser94Pro) c.4T>C (p.Ser2Pro) | |
| 10 | g.67811571A>T | CA377098635 | DNAJC12 | c.250T>A (p.Ser84Thr) c.*269T>A (n.*269T>A) c.*170T>A (n.*170T>A) c.340T>A (p.Ser114Thr) c.280T>A (p.Ser94Thr) c.4T>A (p.Ser2Thr) | |
| 10 | g.67811572C>A | CA377098636 | DNAJC12 | c.249G>T (p.Met83Ile) c.*268G>T (n.*268G>T) c.*169G>T (n.*169G>T) c.339G>T (p.Met113Ile) c.279G>T (p.Met93Ile) c.3G>T (p.Met1Ile) | |
| 10 | g.67811572C>G | CA377098637 | DNAJC12 | c.249G>C (p.Met83Ile) c.*268G>C (n.*268G>C) c.*169G>C (n.*169G>C) c.339G>C (p.Met113Ile) c.279G>C (p.Met93Ile) c.3G>C (p.Met1Ile) | |
| 10 | g.67811572C>T | CA377098638 | DNAJC12 | c.249G>A (p.Met83Ile) c.*268G>A (n.*268G>A) c.*169G>A (n.*169G>A) c.339G>A (p.Met113Ile) c.279G>A (p.Met93Ile) c.3G>A (p.Met1Ile) | |
| 10 | g.67811573A>C | CA377098639 | DNAJC12 | c.248T>G (p.Met83Arg) c.*267T>G (n.*267T>G) c.*168T>G (n.*168T>G) c.338T>G (p.Met113Arg) c.278T>G (p.Met93Arg) c.2T>G (p.Met1Arg) | |
| 10 | g.67811573A>G | CA377098640 | DNAJC12 | c.248T>C (p.Met83Thr) c.*267T>C (n.*267T>C) c.*168T>C (n.*168T>C) c.338T>C (p.Met113Thr) c.278T>C (p.Met93Thr) c.2T>C (p.Met1Thr) | |
| 10 | g.67811573A>T | CA377098641 | DNAJC12 | c.248T>A (p.Met83Lys) c.*267T>A (n.*267T>A) c.*168T>A (n.*168T>A) c.338T>A (p.Met113Lys) c.278T>A (p.Met93Lys) c.2T>A (p.Met1Lys) | gnomAD v4 |
| 10 | g.67811574T>A | CA377098644 | DNAJC12 | c.247A>T (p.Met83Leu) c.*266A>T (n.*266A>T) c.*167A>T (n.*167A>T) c.337A>T (p.Met113Leu) c.277A>T (p.Met93Leu) c.1A>T (p.Met1Leu) | |
| 10 | g.67811574T>C | CA377098643 | DNAJC12 | c.247A>G (p.Met83Val) c.*266A>G (n.*266A>G) c.*167A>G (n.*167A>G) c.337A>G (p.Met113Val) c.277A>G (p.Met93Val) c.1A>G (p.Met1Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811574T>G | CA377098642 | DNAJC12 | c.247A>C (p.Met83Leu) c.*266A>C (n.*266A>C) c.*167A>C (n.*167A>C) c.337A>C (p.Met113Leu) c.277A>C (p.Met93Leu) c.1A>C (p.Met1Leu) | |
| 10 | g.67811574T= | CA1917049473 | DNAJC12 | c.247A= (p.Met83=) c.*266A= (n.*266A=) c.*167A= (n.*167A=) c.337A= (p.Met113=) c.277A= (p.Met93=) c.1A= (p.Met1=) | |
| 10 | g.67811575C>A | CA377098645 | DNAJC12 | c.246G>T (p.Gln82His) c.*265G>T (n.*265G>T) c.*166G>T (n.*166G>T) c.336G>T (p.Gln112His) c.276G>T (p.Gln92His) c.-1G>T (n.-1G>T) | COSMIC COSMIC |
| 10 | g.67811575C>G | CA377098646 | DNAJC12 | c.246G>C (p.Gln82His) c.*265G>C (n.*265G>C) c.*166G>C (n.*166G>C) c.336G>C (p.Gln112His) c.276G>C (p.Gln92His) c.-1G>C (n.-1G>C) | |
| 10 | g.67811575C>T | CA469970063 | DNAJC12 | c.246G>A (p.Gln82=) c.*265G>A (n.*265G>A) c.*166G>A (n.*166G>A) c.336G>A (p.Gln112=) c.276G>A (p.Gln92=) c.-1G>A (n.-1G>A) | |
| 10 | g.67811576T>A | CA377098647 | DNAJC12 | c.245A>T (p.Gln82Leu) c.*264A>T (n.*264A>T) c.*165A>T (n.*165A>T) c.335A>T (p.Gln112Leu) c.275A>T (p.Gln92Leu) c.-2A>T (n.-2A>T) | |
| 10 | g.67811576T>C | CA377098648 | DNAJC12 | c.245A>G (p.Gln82Arg) c.*264A>G (n.*264A>G) c.*165A>G (n.*165A>G) c.335A>G (p.Gln112Arg) c.275A>G (p.Gln92Arg) c.-2A>G (n.-2A>G) | ClinVar dbSNP gnomAD v4 |
| 10 | g.67811576T>G | CA377098649 | DNAJC12 | c.245A>C (p.Gln82Pro) c.*264A>C (n.*264A>C) c.*165A>C (n.*165A>C) c.335A>C (p.Gln112Pro) c.275A>C (p.Gln92Pro) c.-2A>C (n.-2A>C) | |
| 10 | g.67811577G>A | CA377098650 | DNAJC12 | c.244C>T (p.Gln82Ter) c.*263C>T (n.*263C>T) c.*164C>T (n.*164C>T) c.334C>T (p.Gln112Ter) c.274C>T (p.Gln92Ter) c.-3C>T (n.-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811577G>C | CA377098651 | DNAJC12 | c.244C>G (p.Gln82Glu) c.*263C>G (n.*263C>G) c.*164C>G (n.*164C>G) c.334C>G (p.Gln112Glu) c.274C>G (p.Gln92Glu) c.-3C>G (n.-3C>G) | |
| 10 | g.67811577G= | CA1917049474 | DNAJC12 | c.244C= (p.Gln82=) c.*263C= (n.*263C=) c.*164C= (n.*164C=) c.334C= (p.Gln112=) c.274C= (p.Gln92=) c.-3C= (n.-3C=) | |
| 10 | g.67811577G>T | CA377098652 | DNAJC12 | c.244C>A (p.Gln82Lys) c.*263C>A (n.*263C>A) c.*164C>A (n.*164C>A) c.334C>A (p.Gln112Lys) c.274C>A (p.Gln92Lys) c.-3C>A (n.-3C>A) | |
| 10 | g.67811578G>A | CA5520868 | DNAJC12 | c.243C>T (p.Ser81=) c.*262C>T (n.*262C>T) c.*163C>T (n.*163C>T) c.333C>T (p.Ser111=) c.273C>T (p.Ser91=) c.-4C>T (n.-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811578G>C | CA377098653 | DNAJC12 | c.243C>G (p.Ser81Arg) c.*262C>G (n.*262C>G) c.*163C>G (n.*163C>G) c.333C>G (p.Ser111Arg) c.273C>G (p.Ser91Arg) c.-4C>G (n.-4C>G) | |
| 10 | g.67811578G= | CA1917049475 | DNAJC12 | c.243C= (p.Ser81=) c.*262C= (n.*262C=) c.*163C= (n.*163C=) c.333C= (p.Ser111=) c.273C= (p.Ser91=) c.-4C= (n.-4C=) | |
| 10 | g.67811578G>T | CA377098654 | DNAJC12 | c.243C>A (p.Ser81Arg) c.*262C>A (n.*262C>A) c.*163C>A (n.*163C>A) c.333C>A (p.Ser111Arg) c.273C>A (p.Ser91Arg) c.-4C>A (n.-4C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.67811579C>A | CA377098655 | DNAJC12 | c.242G>T (p.Ser81Ile) c.*261G>T (n.*261G>T) c.*162G>T (n.*162G>T) c.332G>T (p.Ser111Ile) c.272G>T (p.Ser91Ile) c.-5G>T (n.-5G>T) | |
| 10 | g.67811579C>G | CA377098656 | DNAJC12 | c.242G>C (p.Ser81Thr) c.*261G>C (n.*261G>C) c.*162G>C (n.*162G>C) c.332G>C (p.Ser111Thr) c.272G>C (p.Ser91Thr) c.-5G>C (n.-5G>C) | |
| 10 | g.67811579C>T | CA377098657 | DNAJC12 | c.242G>A (p.Ser81Asn) c.*261G>A (n.*261G>A) c.*162G>A (n.*162G>A) c.332G>A (p.Ser111Asn) c.272G>A (p.Ser91Asn) c.-5G>A (n.-5G>A) | gnomAD v4 |
| 10 | g.67811580T>A | CA377098659 | DNAJC12 | c.241A>T (p.Ser81Cys) c.*260A>T (n.*260A>T) c.*161A>T (n.*161A>T) c.331A>T (p.Ser111Cys) c.271A>T (p.Ser91Cys) c.-6A>T (n.-6A>T) | |
| 10 | g.67811580T>C | CA377098660 | DNAJC12 | c.241A>G (p.Ser81Gly) c.*260A>G (n.*260A>G) c.*161A>G (n.*161A>G) c.331A>G (p.Ser111Gly) c.271A>G (p.Ser91Gly) c.-6A>G (n.-6A>G) | |
| 10 | g.67811580T>G | CA377098658 | DNAJC12 | c.241A>C (p.Ser81Arg) c.*260A>C (n.*260A>C) c.*161A>C (n.*161A>C) c.331A>C (p.Ser111Arg) c.271A>C (p.Ser91Arg) c.-6A>C (n.-6A>C) | |
| 10 | g.67811581C>A | CA377098661 | DNAJC12 | c.240G>T (p.Arg80Ser) c.*259G>T (n.*259G>T) c.*160G>T (n.*160G>T) c.330G>T (p.Arg110Ser) c.270G>T (p.Arg90Ser) c.-7G>T (n.-7G>T) | |
| 10 | g.67811581C= | CA1917049476 | DNAJC12 | c.240G= (p.Arg80=) c.*259G= (n.*259G=) c.*160G= (n.*160G=) c.330G= (p.Arg110=) c.270G= (p.Arg90=) c.-7G= (n.-7G=) | |
| 10 | g.67811581C>G | CA377098662 | DNAJC12 | c.240G>C (p.Arg80Ser) c.*259G>C (n.*259G>C) c.*160G>C (n.*160G>C) c.330G>C (p.Arg110Ser) c.270G>C (p.Arg90Ser) c.-7G>C (n.-7G>C) | |
| 10 | g.67811581C>T | CA469970064 | DNAJC12 | c.240G>A (p.Arg80=) c.*259G>A (n.*259G>A) c.*160G>A (n.*160G>A) c.330G>A (p.Arg110=) c.270G>A (p.Arg90=) c.-7G>A (n.-7G>A) | dbSNP gnomAD v4 |
| 10 | g.67811582C>A | CA377098663 | DNAJC12 | c.239G>T (p.Arg80Met) c.*258G>T (n.*258G>T) c.*159G>T (n.*159G>T) c.329G>T (p.Arg110Met) c.269G>T (p.Arg90Met) c.-8G>T (n.-8G>T) | |
| 10 | g.67811582C= | CA1917049477 | DNAJC12 | c.239G= (p.Arg80=) c.*258G= (n.*258G=) c.*159G= (n.*159G=) c.329G= (p.Arg110=) c.269G= (p.Arg90=) c.-8G= (n.-8G=) | |
| 10 | g.67811582C>G | CA377098664 | DNAJC12 | c.239G>C (p.Arg80Thr) c.*258G>C (n.*258G>C) c.*159G>C (n.*159G>C) c.329G>C (p.Arg110Thr) c.269G>C (p.Arg90Thr) c.-8G>C (n.-8G>C) | dbSNP |
| 10 | g.67811582C>T | CA377098665 | DNAJC12 | c.239G>A (p.Arg80Lys) c.*258G>A (n.*258G>A) c.*159G>A (n.*159G>A) c.329G>A (p.Arg110Lys) c.269G>A (p.Arg90Lys) c.-8G>A (n.-8G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811583T>A | CA377098666 | DNAJC12 | c.238A>T (p.Arg80Trp) c.*257A>T (n.*257A>T) c.*158A>T (n.*158A>T) c.328A>T (p.Arg110Trp) c.268A>T (p.Arg90Trp) c.-9A>T (n.-9A>T) | dbSNP gnomAD v4 |
| 10 | g.67811583T>C | CA377098667 | DNAJC12 | c.238A>G (p.Arg80Gly) c.*257A>G (n.*257A>G) c.*158A>G (n.*158A>G) c.328A>G (p.Arg110Gly) c.268A>G (p.Arg90Gly) c.-9A>G (n.-9A>G) | |
| 10 | g.67811583T>G | CA469970065 | DNAJC12 | c.238A>C (p.Arg80=) c.*257A>C (n.*257A>C) c.*158A>C (n.*158A>C) c.328A>C (p.Arg110=) c.268A>C (p.Arg90=) c.-9A>C (n.-9A>C) | |
| 10 | g.67811583T= | CA1917049478 | DNAJC12 | c.238A= (p.Arg80=) c.*257A= (n.*257A=) c.*158A= (n.*158A=) c.328A= (p.Arg110=) c.268A= (p.Arg90=) c.-9A= (n.-9A=) | |
| 10 | g.67811584T>A | CA469970066 | DNAJC12 | c.237A>T (p.Arg79=) c.*256A>T (n.*256A>T) c.*157A>T (n.*157A>T) c.327A>T (p.Arg109=) c.267A>T (p.Arg89=) c.-10A>T (n.-10A>T) | |
| 10 | g.67811584T>C | CA5520869 | DNAJC12 | c.237A>G (p.Arg79=) c.*256A>G (n.*256A>G) c.*157A>G (n.*157A>G) c.327A>G (p.Arg109=) c.267A>G (p.Arg89=) c.-10A>G (n.-10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811584T>G | CA469970067 | DNAJC12 | c.237A>C (p.Arg79=) c.*256A>C (n.*256A>C) c.*157A>C (n.*157A>C) c.327A>C (p.Arg109=) c.267A>C (p.Arg89=) c.-10A>C (n.-10A>C) | |
| 10 | g.67811584T= | CA1917049479 | DNAJC12 | c.237A= (p.Arg79=) c.*256A= (n.*256A=) c.*157A= (n.*157A=) c.327A= (p.Arg109=) c.267A= (p.Arg89=) c.-10A= (n.-10A=) | |
| 10 | g.67811585C>A | CA377098668 | DNAJC12 | c.236G>T (p.Arg79Leu) c.*255G>T (n.*255G>T) c.*156G>T (n.*156G>T) c.326G>T (p.Arg109Leu) c.266G>T (p.Arg89Leu) c.-11G>T (n.-11G>T) | |
| 10 | g.67811585C= | CA1917049480 | DNAJC12 | c.236G= (p.Arg79=) c.*255G= (n.*255G=) c.*156G= (n.*156G=) c.326G= (p.Arg109=) c.266G= (p.Arg89=) c.-11G= (n.-11G=) | |
| 10 | g.67811585C>G | CA377098669 | DNAJC12 | c.236G>C (p.Arg79Pro) c.*255G>C (n.*255G>C) c.*156G>C (n.*156G>C) c.326G>C (p.Arg109Pro) c.266G>C (p.Arg89Pro) c.-11G>C (n.-11G>C) | |
| 10 | g.67811585C>T | CA5520870 | DNAJC12 | c.236G>A (p.Arg79Gln) c.*255G>A (n.*255G>A) c.*156G>A (n.*156G>A) c.326G>A (p.Arg109Gln) c.266G>A (p.Arg89Gln) c.-11G>A (n.-11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811586G>A | CA5520871 | DNAJC12 | c.235C>T (p.Arg79Ter) c.*254C>T (n.*254C>T) c.*155C>T (n.*155C>T) c.325C>T (p.Arg109Ter) c.265C>T (p.Arg89Ter) c.-12C>T (n.-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.67811586G>C | CA377098670 | DNAJC12 | c.235C>G (p.Arg79Gly) c.*254C>G (n.*254C>G) c.*155C>G (n.*155C>G) c.325C>G (p.Arg109Gly) c.265C>G (p.Arg89Gly) c.-12C>G (n.-12C>G) | |
| 10 | g.67811586G= | CA1917049481 | DNAJC12 | c.235C= (p.Arg79=) c.*254C= (n.*254C=) c.*155C= (n.*155C=) c.325C= (p.Arg109=) c.265C= (p.Arg89=) c.-12C= (n.-12C=) | |
| 10 | g.67811586G>T | CA469970068 | DNAJC12 | c.235C>A (p.Arg79=) c.*254C>A (n.*254C>A) c.*155C>A (n.*155C>A) c.325C>A (p.Arg109=) c.265C>A (p.Arg89=) c.-12C>A (n.-12C>A) | |
| 10 | g.67811587C>A | CA377098672 | DNAJC12 | c.234G>T (p.Trp78Cys) c.*253G>T (n.*253G>T) c.*154G>T (n.*154G>T) c.324G>T (p.Trp108Cys) c.264G>T (p.Trp88Cys) c.-13G>T (n.-13G>T) | |
| 10 | g.67811587C= | CA1917049482 | DNAJC12 | c.234G= (p.Trp78=) c.*253G= (n.*253G=) c.*154G= (n.*154G=) c.324G= (p.Trp108=) c.264G= (p.Trp88=) c.-13G= (n.-13G=) | |
| 10 | g.67811587C>G | CA377098671 | DNAJC12 | c.234G>C (p.Trp78Cys) c.*253G>C (n.*253G>C) c.*154G>C (n.*154G>C) c.324G>C (p.Trp108Cys) c.264G>C (p.Trp88Cys) c.-13G>C (n.-13G>C) | |
| 10 | g.67811587C>T | CA209166005 | DNAJC12 | c.234G>A (p.Trp78Ter) c.*253G>A (n.*253G>A) c.*154G>A (n.*154G>A) c.324G>A (p.Trp108Ter) c.264G>A (p.Trp88Ter) c.-13G>A (n.-13G>A) | dbSNP gnomAD v4 |
| 10 | g.67811588C>A | CA377098673 | DNAJC12 | c.233G>T (p.Trp78Leu) c.*252G>T (n.*252G>T) c.*153G>T (n.*153G>T) c.323G>T (p.Trp108Leu) c.263G>T (p.Trp88Leu) c.-14G>T (n.-14G>T) | |
| 10 | g.67811588C>G | CA377098674 | DNAJC12 | c.233G>C (p.Trp78Ser) c.*252G>C (n.*252G>C) c.*153G>C (n.*153G>C) c.323G>C (p.Trp108Ser) c.263G>C (p.Trp88Ser) c.-14G>C (n.-14G>C) | |
| 10 | g.67811588C>T | CA377098675 | DNAJC12 | c.233G>A (p.Trp78Ter) c.*252G>A (n.*252G>A) c.*153G>A (n.*153G>A) c.323G>A (p.Trp108Ter) c.263G>A (p.Trp88Ter) c.-14G>A (n.-14G>A) | |
| 10 | g.67811589A>C | CA377098676 | DNAJC12 | c.232T>G (p.Trp78Gly) c.*251T>G (n.*251T>G) c.*152T>G (n.*152T>G) c.322T>G (p.Trp108Gly) c.262T>G (p.Trp88Gly) c.-15T>G (n.-15T>G) | COSMIC COSMIC |
| 10 | g.67811589A>G | CA377098677 | DNAJC12 | c.232T>C (p.Trp78Arg) c.*251T>C (n.*251T>C) c.*152T>C (n.*152T>C) c.322T>C (p.Trp108Arg) c.262T>C (p.Trp88Arg) c.-15T>C (n.-15T>C) | |
| 10 | g.67811589A>T | CA377098678 | DNAJC12 | c.232T>A (p.Trp78Arg) c.*251T>A (n.*251T>A) c.*152T>A (n.*152T>A) c.322T>A (p.Trp108Arg) c.262T>A (p.Trp88Arg) c.-15T>A (n.-15T>A) | |
| 10 | g.67811590G>A | CA469970069 | DNAJC12 | c.231C>T (p.His77=) c.*250C>T (n.*250C>T) c.*151C>T (n.*151C>T) c.321C>T (p.His107=) c.261C>T (p.His87=) c.-16C>T (n.-16C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811590G>C | CA377098679 | DNAJC12 | c.231C>G (p.His77Gln) c.*250C>G (n.*250C>G) c.*151C>G (n.*151C>G) c.321C>G (p.His107Gln) c.261C>G (p.His87Gln) c.-16C>G (n.-16C>G) | dbSNP |
| 10 | g.67811590G= | CA1917049483 | DNAJC12 | c.231C= (p.His77=) c.*250C= (n.*250C=) c.*151C= (n.*151C=) c.321C= (p.His107=) c.261C= (p.His87=) c.-16C= (n.-16C=) | |
| 10 | g.67811590G>T | CA377098680 | DNAJC12 | c.231C>A (p.His77Gln) c.*250C>A (n.*250C>A) c.*151C>A (n.*151C>A) c.321C>A (p.His107Gln) c.261C>A (p.His87Gln) c.-16C>A (n.-16C>A) | |
| 10 | g.67811591T>A | CA377098681 | DNAJC12 | c.230A>T (p.His77Leu) c.*249A>T (n.*249A>T) c.*150A>T (n.*150A>T) c.320A>T (p.His107Leu) c.260A>T (p.His87Leu) c.-17A>T (n.-17A>T) | |
| 10 | g.67811591T>C | CA377098682 | DNAJC12 | c.230A>G (p.His77Arg) c.*249A>G (n.*249A>G) c.*150A>G (n.*150A>G) c.320A>G (p.His107Arg) c.260A>G (p.His87Arg) c.-17A>G (n.-17A>G) | gnomAD v4 |
| 10 | g.67811591T>G | CA377098683 | DNAJC12 | c.230A>C (p.His77Pro) c.*249A>C (n.*249A>C) c.*150A>C (n.*150A>C) c.320A>C (p.His107Pro) c.260A>C (p.His87Pro) c.-17A>C (n.-17A>C) | |
| 10 | g.67811592G>A | CA5520872 | DNAJC12 | c.229C>T (p.His77Tyr) c.*248C>T (n.*248C>T) c.*149C>T (n.*149C>T) c.319C>T (p.His107Tyr) c.259C>T (p.His87Tyr) c.-18C>T (n.-18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811592G>C | CA377098685 | DNAJC12 | c.229C>G (p.His77Asp) c.*248C>G (n.*248C>G) c.*149C>G (n.*149C>G) c.319C>G (p.His107Asp) c.259C>G (p.His87Asp) c.-18C>G (n.-18C>G) | |
| 10 | g.67811592G= | CA1917049484 | DNAJC12 | c.229C= (p.His77=) c.*248C= (n.*248C=) c.*149C= (n.*149C=) c.319C= (p.His107=) c.259C= (p.His87=) c.-18C= (n.-18C=) | |
| 10 | g.67811592G>T | CA377098684 | DNAJC12 | c.229C>A (p.His77Asn) c.*248C>A (n.*248C>A) c.*149C>A (n.*149C>A) c.319C>A (p.His107Asn) c.259C>A (p.His87Asn) c.-18C>A (n.-18C>A) | |
| 10 | g.67811593G>A | CA469970070 | DNAJC12 | c.228C>T (p.Asp76=) c.*247C>T (n.*247C>T) c.*148C>T (n.*148C>T) c.318C>T (p.Asp106=) c.258C>T (p.Asp86=) c.-19C>T (n.-19C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811593G>C | CA377098686 | DNAJC12 | c.228C>G (p.Asp76Glu) c.*247C>G (n.*247C>G) c.*148C>G (n.*148C>G) c.318C>G (p.Asp106Glu) c.258C>G (p.Asp86Glu) c.-19C>G (n.-19C>G) | gnomAD v4 |
| 10 | g.67811593G= | CA1917049485 | DNAJC12 | c.228C= (p.Asp76=) c.*247C= (n.*247C=) c.*148C= (n.*148C=) c.318C= (p.Asp106=) c.258C= (p.Asp86=) c.-19C= (n.-19C=) | |
| 10 | g.67811593G>T | CA377098687 | DNAJC12 | c.228C>A (p.Asp76Glu) c.*247C>A (n.*247C>A) c.*148C>A (n.*148C>A) c.318C>A (p.Asp106Glu) c.258C>A (p.Asp86Glu) c.-19C>A (n.-19C>A) | |
| 10 | g.67811594T>A | CA377098688 | DNAJC12 | c.227A>T (p.Asp76Val) c.*246A>T (n.*246A>T) c.*147A>T (n.*147A>T) c.317A>T (p.Asp106Val) c.257A>T (p.Asp86Val) c.-20A>T (n.-20A>T) | |
| 10 | g.67811594T>C | CA377098689 | DNAJC12 | c.227A>G (p.Asp76Gly) c.*246A>G (n.*246A>G) c.*147A>G (n.*147A>G) c.317A>G (p.Asp106Gly) c.257A>G (p.Asp86Gly) c.-20A>G (n.-20A>G) | |
| 10 | g.67811594T>G | CA377098690 | DNAJC12 | c.227A>C (p.Asp76Ala) c.*246A>C (n.*246A>C) c.*147A>C (n.*147A>C) c.317A>C (p.Asp106Ala) c.257A>C (p.Asp86Ala) c.-20A>C (n.-20A>C) | |
| 10 | g.67811595C>A | CA377098691 | DNAJC12 | c.226G>T (p.Asp76Tyr) c.*245G>T (n.*245G>T) c.*146G>T (n.*146G>T) c.316G>T (p.Asp106Tyr) c.256G>T (p.Asp86Tyr) c.-21G>T (n.-21G>T) | |
| 10 | g.67811595C= | CA1917049486 | DNAJC12 | c.226G= (p.Asp76=) c.*245G= (n.*245G=) c.*146G= (n.*146G=) c.316G= (p.Asp106=) c.256G= (p.Asp86=) c.-21G= (n.-21G=) | |
| 10 | g.67811595C>G | CA377098692 | DNAJC12 | c.226G>C (p.Asp76His) c.*245G>C (n.*245G>C) c.*146G>C (n.*146G>C) c.316G>C (p.Asp106His) c.256G>C (p.Asp86His) c.-21G>C (n.-21G>C) | |
| 10 | g.67811595C>T | CA377098693 | DNAJC12 | c.226G>A (p.Asp76Asn) c.*245G>A (n.*245G>A) c.*146G>A (n.*146G>A) c.316G>A (p.Asp106Asn) c.256G>A (p.Asp86Asn) c.-21G>A (n.-21G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811596A>C | CA377098694 | DNAJC12 | c.225T>G (p.Tyr75Ter) c.*244T>G (n.*244T>G) c.*145T>G (n.*145T>G) c.315T>G (p.Tyr105Ter) c.255T>G (p.Tyr85Ter) c.-22T>G (n.-22T>G) | |
| 10 | g.67811596A>G | CA469970071 | DNAJC12 | c.225T>C (p.Tyr75=) c.*244T>C (n.*244T>C) c.*145T>C (n.*145T>C) c.315T>C (p.Tyr105=) c.255T>C (p.Tyr85=) c.-22T>C (n.-22T>C) | |
| 10 | g.67811596A>T | CA377098695 | DNAJC12 | c.225T>A (p.Tyr75Ter) c.*244T>A (n.*244T>A) c.*145T>A (n.*145T>A) c.315T>A (p.Tyr105Ter) c.255T>A (p.Tyr85Ter) c.-22T>A (n.-22T>A) | |
| 10 | g.67811597T>A | CA377098696 | DNAJC12 | c.224A>T (p.Tyr75Phe) c.*243A>T (n.*243A>T) c.*144A>T (n.*144A>T) c.314A>T (p.Tyr105Phe) c.254A>T (p.Tyr85Phe) c.-23A>T (n.-23A>T) | gnomAD v4 |
| 10 | g.67811597T>C | CA5520873 | DNAJC12 | c.224A>G (p.Tyr75Cys) c.*243A>G (n.*243A>G) c.*144A>G (n.*144A>G) c.314A>G (p.Tyr105Cys) c.254A>G (p.Tyr85Cys) c.-23A>G (n.-23A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811597T>G | CA377098697 | DNAJC12 | c.224A>C (p.Tyr75Ser) c.*243A>C (n.*243A>C) c.*144A>C (n.*144A>C) c.314A>C (p.Tyr105Ser) c.254A>C (p.Tyr85Ser) c.-23A>C (n.-23A>C) | |
| 10 | g.67811597T= | CA1917049487 | DNAJC12 | c.224A= (p.Tyr75=) c.*243A= (n.*243A=) c.*144A= (n.*144A=) c.314A= (p.Tyr105=) c.254A= (p.Tyr85=) c.-23A= (n.-23A=) | |
| 10 | g.67811598A= | CA1917049488 | DNAJC12 | c.223T= (p.Tyr75=) c.*242T= (n.*242T=) c.*143T= (n.*143T=) c.313T= (p.Tyr105=) c.253T= (p.Tyr85=) c.-24T= (n.-24T=) | |
| 10 | g.67811598A>C | CA377098700 | DNAJC12 | c.223T>G (p.Tyr75Asp) c.*242T>G (n.*242T>G) c.*143T>G (n.*143T>G) c.313T>G (p.Tyr105Asp) c.253T>G (p.Tyr85Asp) c.-24T>G (n.-24T>G) | |
| 10 | g.67811598A>G | CA377098699 | DNAJC12 | c.223T>C (p.Tyr75His) c.*242T>C (n.*242T>C) c.*143T>C (n.*143T>C) c.313T>C (p.Tyr105His) c.253T>C (p.Tyr85His) c.-24T>C (n.-24T>C) | gnomAD v4 |
| 10 | g.67811598A>T | CA377098698 | DNAJC12 | c.223T>A (p.Tyr75Asn) c.*242T>A (n.*242T>A) c.*143T>A (n.*143T>A) c.313T>A (p.Tyr105Asn) c.253T>A (p.Tyr85Asn) c.-24T>A (n.-24T>A) | |
| 10 | g.67811599G>A | CA469970072 | DNAJC12 | c.222C>T (p.Arg74=) c.*241C>T (n.*241C>T) c.*142C>T (n.*142C>T) c.312C>T (p.Arg104=) c.252C>T (p.Arg84=) c.-25C>T (n.-25C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811599G>C | CA469970073 | DNAJC12 | c.222C>G (p.Arg74=) c.*241C>G (n.*241C>G) c.*142C>G (n.*142C>G) c.312C>G (p.Arg104=) c.252C>G (p.Arg84=) c.-25C>G (n.-25C>G) | |
| 10 | g.67811599G= | CA1917049489 | DNAJC12 | c.222C= (p.Arg74=) c.*241C= (n.*241C=) c.*142C= (n.*142C=) c.312C= (p.Arg104=) c.252C= (p.Arg84=) c.-25C= (n.-25C=) | |
| 10 | g.67811599G>T | CA469970074 | DNAJC12 | c.222C>A (p.Arg74=) c.*241C>A (n.*241C>A) c.*142C>A (n.*142C>A) c.312C>A (p.Arg104=) c.252C>A (p.Arg84=) c.-25C>A (n.-25C>A) | |
| 10 | g.67811599dup | CA1917049490 | DNAJC12 | c.222dup (p.Tyr75LeufsTer2) c.*241dup (n.*241dup) c.*142dup (n.*142dup) c.312dup (p.Tyr105LeufsTer2) c.252dup (p.Tyr85LeufsTer2) c.-25dup (n.-25dup) | dbSNP |
| 10 | g.67811600C>A | CA5520875 | DNAJC12 | c.221G>T (p.Arg74Leu) c.*240G>T (n.*240G>T) c.*141G>T (n.*141G>T) c.311G>T (p.Arg104Leu) c.251G>T (p.Arg84Leu) c.-26G>T (n.-26G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811600C= | CA1917049491 | DNAJC12 | c.221G= (p.Arg74=) c.*240G= (n.*240G=) c.*141G= (n.*141G=) c.311G= (p.Arg104=) c.251G= (p.Arg84=) c.-26G= (n.-26G=) | |
| 10 | g.67811600C>G | CA377098701 | DNAJC12 | c.221G>C (p.Arg74Pro) c.*240G>C (n.*240G>C) c.*141G>C (n.*141G>C) c.311G>C (p.Arg104Pro) c.251G>C (p.Arg84Pro) c.-26G>C (n.-26G>C) | |
| 10 | g.67811600C>T | CA5520874 | DNAJC12 | c.221G>A (p.Arg74His) c.*240G>A (n.*240G>A) c.*141G>A (n.*141G>A) c.311G>A (p.Arg104His) c.251G>A (p.Arg84His) c.-26G>A (n.-26G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811601G>A | CA5520876 | DNAJC12 | c.220C>T (p.Arg74Cys) c.*239C>T (n.*239C>T) c.*140C>T (n.*140C>T) c.310C>T (p.Arg104Cys) c.250C>T (p.Arg84Cys) c.-27C>T (n.-27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.67811601G>C | CA377098702 | DNAJC12 | c.220C>G (p.Arg74Gly) c.*239C>G (n.*239C>G) c.*140C>G (n.*140C>G) c.310C>G (p.Arg104Gly) c.250C>G (p.Arg84Gly) c.-27C>G (n.-27C>G) | |
| 10 | g.67811601G= | CA1917049492 | DNAJC12 | c.220C= (p.Arg74=) c.*239C= (n.*239C=) c.*140C= (n.*140C=) c.310C= (p.Arg104=) c.250C= (p.Arg84=) c.-27C= (n.-27C=) | |
| 10 | g.67811601G>T | CA377098703 | DNAJC12 | c.220C>A (p.Arg74Ser) c.*239C>A (n.*239C>A) c.*140C>A (n.*140C>A) c.310C>A (p.Arg104Ser) c.250C>A (p.Arg84Ser) c.-27C>A (n.-27C>A) | dbSNP |
| 10 | g.67811602G>A | CA469970076 | DNAJC12 | c.219C>T (p.Ala73=) c.*238C>T (n.*238C>T) c.*139C>T (n.*139C>T) c.309C>T (p.Ala103=) c.249C>T (p.Ala83=) c.-28C>T (n.-28C>T) | |
| 10 | g.67811602G>C | CA469970075 | DNAJC12 | c.219C>G (p.Ala73=) c.*238C>G (n.*238C>G) c.*139C>G (n.*139C>G) c.309C>G (p.Ala103=) c.249C>G (p.Ala83=) c.-28C>G (n.-28C>G) | |
| 10 | g.67811602G= | CA1917049493 | DNAJC12 | c.219C= (p.Ala73=) c.*238C= (n.*238C=) c.*139C= (n.*139C=) c.309C= (p.Ala103=) c.249C= (p.Ala83=) c.-28C= (n.-28C=) | |
| 10 | g.67811602G>T | CA209166006 | DNAJC12 | c.219C>A (p.Ala73=) c.*238C>A (n.*238C>A) c.*139C>A (n.*139C>A) c.309C>A (p.Ala103=) c.249C>A (p.Ala83=) c.-28C>A (n.-28C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811603G>A | CA5520877 | DNAJC12 | c.218C>T (p.Ala73Val) c.*237C>T (n.*237C>T) c.*138C>T (n.*138C>T) c.308C>T (p.Ala103Val) c.248C>T (p.Ala83Val) c.-29C>T (n.-29C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811603G>C | CA377098704 | DNAJC12 | c.218C>G (p.Ala73Gly) c.*237C>G (n.*237C>G) c.*138C>G (n.*138C>G) c.308C>G (p.Ala103Gly) c.248C>G (p.Ala83Gly) c.-29C>G (n.-29C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811603G= | CA1917049494 | DNAJC12 | c.218C= (p.Ala73=) c.*237C= (n.*237C=) c.*138C= (n.*138C=) c.308C= (p.Ala103=) c.248C= (p.Ala83=) c.-29C= (n.-29C=) | |
| 10 | g.67811603G>T | CA377098705 | DNAJC12 | c.218C>A (p.Ala73Asp) c.*237C>A (n.*237C>A) c.*138C>A (n.*138C>A) c.308C>A (p.Ala103Asp) c.248C>A (p.Ala83Asp) c.-29C>A (n.-29C>A) | |
| 10 | g.67811604C>A | CA377098706 | DNAJC12 | c.217G>T (p.Ala73Ser) c.*236G>T (n.*236G>T) c.*137G>T (n.*137G>T) c.307G>T (p.Ala103Ser) c.247G>T (p.Ala83Ser) c.-30G>T (n.-30G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811604C= | CA1917049495 | DNAJC12 | c.217G= (p.Ala73=) c.*236G= (n.*236G=) c.*137G= (n.*137G=) c.307G= (p.Ala103=) c.247G= (p.Ala83=) c.-30G= (n.-30G=) | |
| 10 | g.67811604C>G | CA377098707 | DNAJC12 | c.217G>C (p.Ala73Pro) c.*236G>C (n.*236G>C) c.*137G>C (n.*137G>C) c.307G>C (p.Ala103Pro) c.247G>C (p.Ala83Pro) c.-30G>C (n.-30G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811604C>T | CA377098708 | DNAJC12 | c.217G>A (p.Ala73Thr) c.*236G>A (n.*236G>A) c.*137G>A (n.*137G>A) c.307G>A (p.Ala103Thr) c.247G>A (p.Ala83Thr) c.-30G>A (n.-30G>A) | |
| 10 | g.67811605T>A | CA469970077 | DNAJC12 | c.216A>T (p.Arg72=) c.*235A>T (n.*235A>T) c.*136A>T (n.*136A>T) c.306A>T (p.Arg102=) c.246A>T (p.Arg82=) c.-31A>T (n.-31A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811605T>C | CA469970078 | DNAJC12 | c.216A>G (p.Arg72=) c.*235A>G (n.*235A>G) c.*136A>G (n.*136A>G) c.306A>G (p.Arg102=) c.246A>G (p.Arg82=) c.-31A>G (n.-31A>G) | |
| 10 | g.67811605T>G | CA469970079 | DNAJC12 | c.216A>C (p.Arg72=) c.*235A>C (n.*235A>C) c.*136A>C (n.*136A>C) c.306A>C (p.Arg102=) c.246A>C (p.Arg82=) c.-31A>C (n.-31A>C) | |
| 10 | g.67811605T= | CA1917049496 | DNAJC12 | c.216A= (p.Arg72=) c.*235A= (n.*235A=) c.*136A= (n.*136A=) c.306A= (p.Arg102=) c.246A= (p.Arg82=) c.-31A= (n.-31A=) | |
| 10 | g.67811606C>A | CA377098709 | DNAJC12 | c.215G>T (p.Arg72Leu) c.*234G>T (n.*234G>T) c.*135G>T (n.*135G>T) c.305G>T (p.Arg102Leu) c.245G>T (p.Arg82Leu) c.-32G>T (n.-32G>T) | gnomAD v4 |
| 10 | g.67811606C= | CA1917049497 | DNAJC12 | c.215G= (p.Arg72=) c.*234G= (n.*234G=) c.*135G= (n.*135G=) c.305G= (p.Arg102=) c.245G= (p.Arg82=) c.-32G= (n.-32G=) | |
| 10 | g.67811606C>G | CA16609234 | DNAJC12 | c.215G>C (p.Arg72Pro) c.*234G>C (n.*234G>C) c.*135G>C (n.*135G>C) c.305G>C (p.Arg102Pro) c.245G>C (p.Arg82Pro) c.-32G>C (n.-32G>C) | ClinVar dbSNP COSMIC COSMIC |
| 10 | g.67811606C>T | CA209166007 | DNAJC12 | c.215G>A (p.Arg72Gln) c.*234G>A (n.*234G>A) c.*135G>A (n.*135G>A) c.305G>A (p.Arg102Gln) c.245G>A (p.Arg82Gln) c.-32G>A (n.-32G>A) | dbSNP gnomAD v4 |
| 10 | g.67811607G>A | CA5520878 | DNAJC12 | c.214C>T (p.Arg72Ter) c.*233C>T (n.*233C>T) c.*134C>T (n.*134C>T) c.304C>T (p.Arg102Ter) c.244C>T (p.Arg82Ter) c.-33C>T (n.-33C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811607G>C | CA377098710 | DNAJC12 | c.214C>G (p.Arg72Gly) c.*233C>G (n.*233C>G) c.*134C>G (n.*134C>G) c.304C>G (p.Arg102Gly) c.244C>G (p.Arg82Gly) c.-33C>G (n.-33C>G) | gnomAD v4 |
| 10 | g.67811607G= | CA1917049498 | DNAJC12 | c.214C= (p.Arg72=) c.*233C= (n.*233C=) c.*134C= (n.*134C=) c.304C= (p.Arg102=) c.244C= (p.Arg82=) c.-33C= (n.-33C=) | |
| 10 | g.67811607G>T | CA469970080 | DNAJC12 | c.214C>A (p.Arg72=) c.*233C>A (n.*233C>A) c.*134C>A (n.*134C>A) c.304C>A (p.Arg102=) c.244C>A (p.Arg82=) c.-33C>A (n.-33C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811608A>C | CA377098712 | DNAJC12 | c.213T>G (p.Ser71Arg) c.*232T>G (n.*232T>G) c.*133T>G (n.*133T>G) c.303T>G (p.Ser101Arg) c.243T>G (p.Ser81Arg) c.-34T>G (n.-34T>G) | |
| 10 | g.67811608A>G | CA469970085 | DNAJC12 | c.213T>C (p.Ser71=) c.*232T>C (n.*232T>C) c.*133T>C (n.*133T>C) c.303T>C (p.Ser101=) c.243T>C (p.Ser81=) c.-34T>C (n.-34T>C) | |
| 10 | g.67811608A>T | CA377098713 | DNAJC12 | c.213T>A (p.Ser71Arg) c.*232T>A (n.*232T>A) c.*133T>A (n.*133T>A) c.303T>A (p.Ser101Arg) c.243T>A (p.Ser81Arg) c.-34T>A (n.-34T>A) | |
| 10 | g.67811609C>A | CA377098714 | DNAJC12 | c.212G>T (p.Ser71Ile) c.*231G>T (n.*231G>T) c.*132G>T (n.*132G>T) c.302G>T (p.Ser101Ile) c.242G>T (p.Ser81Ile) c.-35G>T (n.-35G>T) | |
| 10 | g.67811609C>G | CA377098715 | DNAJC12 | c.212G>C (p.Ser71Thr) c.*231G>C (n.*231G>C) c.*132G>C (n.*132G>C) c.302G>C (p.Ser101Thr) c.242G>C (p.Ser81Thr) c.-35G>C (n.-35G>C) | |
| 10 | g.67811609C>T | CA377098716 | DNAJC12 | c.212G>A (p.Ser71Asn) c.*231G>A (n.*231G>A) c.*132G>A (n.*132G>A) c.302G>A (p.Ser101Asn) c.242G>A (p.Ser81Asn) c.-35G>A (n.-35G>A) | |
| 10 | g.67811613_67811614del | CA2609360353 | DNAJC12 | c.211_212del (p.Arg72SerfsTer4) c.*230_*231del (n.*230_*231del) c.*131_*132del (n.*131_*132del) c.301_302del (p.Arg102SerfsTer4) c.241_242del (p.Arg82SerfsTer4) c.-36_-35del (n.-36_-35del) | gnomAD v4 |
| 10 | g.67811610T>A | CA377098717 | DNAJC12 | c.211A>T (p.Ser71Cys) c.*230A>T (n.*230A>T) c.*131A>T (n.*131A>T) c.301A>T (p.Ser101Cys) c.241A>T (p.Ser81Cys) c.-36A>T (n.-36A>T) | |
| 10 | g.67811610T>C | CA377098718 | DNAJC12 | c.211A>G (p.Ser71Gly) c.*230A>G (n.*230A>G) c.*131A>G (n.*131A>G) c.301A>G (p.Ser101Gly) c.241A>G (p.Ser81Gly) c.-36A>G (n.-36A>G) | dbSNP |
| 10 | g.67811610T>G | CA377098719 | DNAJC12 | c.211A>C (p.Ser71Arg) c.*230A>C (n.*230A>C) c.*131A>C (n.*131A>C) c.301A>C (p.Ser101Arg) c.241A>C (p.Ser81Arg) c.-36A>C (n.-36A>C) | |
| 10 | g.67811610T= | CA1917049499 | DNAJC12 | c.211A= (p.Ser71=) c.*230A= (n.*230A=) c.*131A= (n.*131A=) c.301A= (p.Ser101=) c.241A= (p.Ser81=) c.-36A= (n.-36A=) | |
| 10 | g.67811611C>A | CA377098721 | DNAJC12 | c.210G>T (p.Glu70Asp) c.*229G>T (n.*229G>T) c.*130G>T (n.*130G>T) c.300G>T (p.Glu100Asp) c.240G>T (p.Glu80Asp) c.-37G>T (n.-37G>T) | |
| 10 | g.67811611C= | CA1917049500 | DNAJC12 | c.210G= (p.Glu70=) c.*229G= (n.*229G=) c.*130G= (n.*130G=) c.300G= (p.Glu100=) c.240G= (p.Glu80=) c.-37G= (n.-37G=) | |
| 10 | g.67811611C>G | CA209166008 | DNAJC12 | c.210G>C (p.Glu70Asp) c.*229G>C (n.*229G>C) c.*130G>C (n.*130G>C) c.300G>C (p.Glu100Asp) c.240G>C (p.Glu80Asp) c.-37G>C (n.-37G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811611C>T | CA469970086 | DNAJC12 | c.210G>A (p.Glu70=) c.*229G>A (n.*229G>A) c.*130G>A (n.*130G>A) c.300G>A (p.Glu100=) c.240G>A (p.Glu80=) c.-37G>A (n.-37G>A) | |
| 10 | g.67811612T>A | CA377098722 | DNAJC12 | c.209A>T (p.Glu70Val) c.*228A>T (n.*228A>T) c.*129A>T (n.*129A>T) c.299A>T (p.Glu100Val) c.239A>T (p.Glu80Val) c.-38A>T (n.-38A>T) | |
| 10 | g.67811612T>C | CA377098724 | DNAJC12 | c.209A>G (p.Glu70Gly) c.*228A>G (n.*228A>G) c.*129A>G (n.*129A>G) c.299A>G (p.Glu100Gly) c.239A>G (p.Glu80Gly) c.-38A>G (n.-38A>G) | |
| 10 | g.67811612T>G | CA377098723 | DNAJC12 | c.209A>C (p.Glu70Ala) c.*228A>C (n.*228A>C) c.*129A>C (n.*129A>C) c.299A>C (p.Glu100Ala) c.239A>C (p.Glu80Ala) c.-38A>C (n.-38A>C) | |
| 10 | g.67811612dup | CA5520879 | DNAJC12 | c.209dup (p.Ser71GlufsTer6) c.*228dup (n.*228dup) c.*129dup (n.*129dup) c.299dup (p.Ser101GlufsTer6) c.239dup (p.Ser81GlufsTer6) c.-38dup (n.-38dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811613C>A | CA377098725 | DNAJC12 | c.208G>T (p.Glu70Ter) c.*227G>T (n.*227G>T) c.*128G>T (n.*128G>T) c.298G>T (p.Glu100Ter) c.238G>T (p.Glu80Ter) c.-39G>T (n.-39G>T) | |
| 10 | g.67811613C>G | CA377098726 | DNAJC12 | c.208G>C (p.Glu70Gln) c.*227G>C (n.*227G>C) c.*128G>C (n.*128G>C) c.298G>C (p.Glu100Gln) c.238G>C (p.Glu80Gln) c.-39G>C (n.-39G>C) | |
| 10 | g.67811613C>T | CA377098727 | DNAJC12 | c.208G>A (p.Glu70Lys) c.*227G>A (n.*227G>A) c.*128G>A (n.*128G>A) c.298G>A (p.Glu100Lys) c.238G>A (p.Glu80Lys) c.-39G>A (n.-39G>A) | |
| 10 | g.67811614T>A | CA377098728 | DNAJC12 | c.207A>T (p.Glu69Asp) c.*226A>T (n.*226A>T) c.*127A>T (n.*127A>T) c.297A>T (p.Glu99Asp) c.237A>T (p.Glu79Asp) c.-40A>T (n.-40A>T) | |
| 10 | g.67811614T>C | CA469970087 | DNAJC12 | c.207A>G (p.Glu69=) c.*226A>G (n.*226A>G) c.*127A>G (n.*127A>G) c.297A>G (p.Glu99=) c.237A>G (p.Glu79=) c.-40A>G (n.-40A>G) | |
| 10 | g.67811614T>G | CA5520880 | DNAJC12 | c.207A>C (p.Glu69Asp) c.*226A>C (n.*226A>C) c.*127A>C (n.*127A>C) c.297A>C (p.Glu99Asp) c.237A>C (p.Glu79Asp) c.-40A>C (n.-40A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811614T= | CA1917049501 | DNAJC12 | c.207A= (p.Glu69=) c.*226A= (n.*226A=) c.*127A= (n.*127A=) c.297A= (p.Glu99=) c.237A= (p.Glu79=) c.-40A= (n.-40A=) | |
| 10 | g.67811615T>A | CA377098729 | DNAJC12 | c.206A>T (p.Glu69Val) c.*225A>T (n.*225A>T) c.*126A>T (n.*126A>T) c.296A>T (p.Glu99Val) c.236A>T (p.Glu79Val) c.-41A>T (n.-41A>T) | |
| 10 | g.67811615T>C | CA377098730 | DNAJC12 | c.206A>G (p.Glu69Gly) c.*225A>G (n.*225A>G) c.*126A>G (n.*126A>G) c.296A>G (p.Glu99Gly) c.236A>G (p.Glu79Gly) c.-41A>G (n.-41A>G) | |
| 10 | g.67811615T>G | CA377098731 | DNAJC12 | c.206A>C (p.Glu69Ala) c.*225A>C (n.*225A>C) c.*126A>C (n.*126A>C) c.296A>C (p.Glu99Ala) c.236A>C (p.Glu79Ala) c.-41A>C (n.-41A>C) | |
| 10 | g.67811616C>A | CA377098732 | DNAJC12 | c.205G>T (p.Glu69Ter) c.*224G>T (n.*224G>T) c.*125G>T (n.*125G>T) c.295G>T (p.Glu99Ter) c.235G>T (p.Glu79Ter) c.-42G>T (n.-42G>T) | |
| 10 | g.67811616C= | CA1917049502 | DNAJC12 | c.205G= (p.Glu69=) c.*224G= (n.*224G=) c.*125G= (n.*125G=) c.295G= (p.Glu99=) c.235G= (p.Glu79=) c.-42G= (n.-42G=) | |
| 10 | g.67811616C>G | CA5520881 | DNAJC12 | c.205G>C (p.Glu69Gln) c.*224G>C (n.*224G>C) c.*125G>C (n.*125G>C) c.295G>C (p.Glu99Gln) c.235G>C (p.Glu79Gln) c.-42G>C (n.-42G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811616C>T | CA377098733 | DNAJC12 | c.205G>A (p.Glu69Lys) c.*224G>A (n.*224G>A) c.*125G>A (n.*125G>A) c.295G>A (p.Glu99Lys) c.235G>A (p.Glu79Lys) c.-42G>A (n.-42G>A) | gnomAD v4 |
| 10 | g.67811617A= | CA1917049503 | DNAJC12 | c.204T= (p.Asn68=) c.*223T= (n.*223T=) c.*124T= (n.*124T=) c.294T= (p.Asn98=) c.234T= (p.Asn78=) c.-43T= (n.-43T=) | |
| 10 | g.67811617A>C | CA377098734 | DNAJC12 | c.204T>G (p.Asn68Lys) c.*223T>G (n.*223T>G) c.*124T>G (n.*124T>G) c.294T>G (p.Asn98Lys) c.234T>G (p.Asn78Lys) c.-43T>G (n.-43T>G) | |
| 10 | g.67811617A>G | CA469970088 | DNAJC12 | c.204T>C (p.Asn68=) c.*223T>C (n.*223T>C) c.*124T>C (n.*124T>C) c.294T>C (p.Asn98=) c.234T>C (p.Asn78=) c.-43T>C (n.-43T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.67811617A>T | CA377098735 | DNAJC12 | c.204T>A (p.Asn68Lys) c.*223T>A (n.*223T>A) c.*124T>A (n.*124T>A) c.294T>A (p.Asn98Lys) c.234T>A (p.Asn78Lys) c.-43T>A (n.-43T>A) | |
| 10 | g.67811618T>A | CA377098736 | DNAJC12 | c.203A>T (p.Asn68Ile) c.*222A>T (n.*222A>T) c.*123A>T (n.*123A>T) c.293A>T (p.Asn98Ile) c.233A>T (p.Asn78Ile) c.-44A>T (n.-44A>T) | |
| 10 | g.67811618T>C | CA377098738 | DNAJC12 | c.203A>G (p.Asn68Ser) c.*222A>G (n.*222A>G) c.*123A>G (n.*123A>G) c.293A>G (p.Asn98Ser) c.233A>G (p.Asn78Ser) c.-44A>G (n.-44A>G) | |
| 10 | g.67811618T>G | CA377098737 | DNAJC12 | c.203A>C (p.Asn68Thr) c.*222A>C (n.*222A>C) c.*123A>C (n.*123A>C) c.293A>C (p.Asn98Thr) c.233A>C (p.Asn78Thr) c.-44A>C (n.-44A>C) | |
| 10 | g.67811619T>A | CA377098739 | DNAJC12 | c.202A>T (p.Asn68Tyr) c.*221A>T (n.*221A>T) c.*122A>T (n.*122A>T) c.292A>T (p.Asn98Tyr) c.232A>T (p.Asn78Tyr) c.-45A>T (n.-45A>T) | |
| 10 | g.67811619T>C | CA377098741 | DNAJC12 | c.202A>G (p.Asn68Asp) c.*221A>G (n.*221A>G) c.*122A>G (n.*122A>G) c.292A>G (p.Asn98Asp) c.232A>G (p.Asn78Asp) c.-45A>G (n.-45A>G) | |
| 10 | g.67811619T>G | CA377098740 | DNAJC12 | c.202A>C (p.Asn68His) c.*221A>C (n.*221A>C) c.*122A>C (n.*122A>C) c.292A>C (p.Asn98His) c.232A>C (p.Asn78His) c.-45A>C (n.-45A>C) | |
| 10 | g.67811620G>A | CA469970089 | DNAJC12 | c.201C>T (p.Thr67=) c.*220C>T (n.*220C>T) c.*121C>T (n.*121C>T) c.291C>T (p.Thr97=) c.231C>T (p.Thr77=) c.-46C>T (n.-46C>T) | |
| 10 | g.67811620G>C | CA469970090 | DNAJC12 | c.201C>G (p.Thr67=) c.*220C>G (n.*220C>G) c.*121C>G (n.*121C>G) c.291C>G (p.Thr97=) c.231C>G (p.Thr77=) c.-46C>G (n.-46C>G) | |
| 10 | g.67811620G>T | CA469970091 | DNAJC12 | c.201C>A (p.Thr67=) c.*220C>A (n.*220C>A) c.*121C>A (n.*121C>A) c.291C>A (p.Thr97=) c.231C>A (p.Thr77=) c.-46C>A (n.-46C>A) | |
| 10 | g.67811621G>A | CA377098742 | DNAJC12 | c.200C>T (p.Thr67Ile) c.*219C>T (n.*219C>T) c.*120C>T (n.*120C>T) c.290C>T (p.Thr97Ile) c.230C>T (p.Thr77Ile) c.-47C>T (n.-47C>T) | dbSNP |
| 10 | g.67811621G>C | CA377098743 | DNAJC12 | c.200C>G (p.Thr67Ser) c.*219C>G (n.*219C>G) c.*120C>G (n.*120C>G) c.290C>G (p.Thr97Ser) c.230C>G (p.Thr77Ser) c.-47C>G (n.-47C>G) | |
| 10 | g.67811621G= | CA1917049504 | DNAJC12 | c.200C= (p.Thr67=) c.*219C= (n.*219C=) c.*120C= (n.*120C=) c.290C= (p.Thr97=) c.230C= (p.Thr77=) c.-47C= (n.-47C=) | |
| 10 | g.67811621G>T | CA377098744 | DNAJC12 | c.200C>A (p.Thr67Asn) c.*219C>A (n.*219C>A) c.*120C>A (n.*120C>A) c.290C>A (p.Thr97Asn) c.230C>A (p.Thr77Asn) c.-47C>A (n.-47C>A) | |
| 10 | g.67811622T>A | CA377098745 | DNAJC12 | c.199A>T (p.Thr67Ser) c.*218A>T (n.*218A>T) c.*119A>T (n.*119A>T) c.289A>T (p.Thr97Ser) c.229A>T (p.Thr77Ser) c.-48A>T (n.-48A>T) | |
| 10 | g.67811622T>C | CA377098746 | DNAJC12 | c.199A>G (p.Thr67Ala) c.*218A>G (n.*218A>G) c.*119A>G (n.*119A>G) c.289A>G (p.Thr97Ala) c.229A>G (p.Thr77Ala) c.-48A>G (n.-48A>G) | |
| 10 | g.67811622T>G | CA377098747 | DNAJC12 | c.199A>C (p.Thr67Pro) c.*218A>C (n.*218A>C) c.*119A>C (n.*119A>C) c.289A>C (p.Thr97Pro) c.229A>C (p.Thr77Pro) c.-48A>C (n.-48A>C) | |
| 10 | g.67811623C>A | CA469970092 | DNAJC12 | c.198G>T (p.Leu66=) c.*217G>T (n.*217G>T) c.*118G>T (n.*118G>T) c.288G>T (p.Leu96=) c.228G>T (p.Leu76=) c.-49G>T (n.-49G>T) | gnomAD v4 |
| 10 | g.67811623C>G | CA469970093 | DNAJC12 | c.198G>C (p.Leu66=) c.*217G>C (n.*217G>C) c.*118G>C (n.*118G>C) c.288G>C (p.Leu96=) c.228G>C (p.Leu76=) c.-49G>C (n.-49G>C) | |
| 10 | g.67811623C>T | CA469970094 | DNAJC12 | c.198G>A (p.Leu66=) c.*217G>A (n.*217G>A) c.*118G>A (n.*118G>A) c.288G>A (p.Leu96=) c.228G>A (p.Leu76=) c.-49G>A (n.-49G>A) | |
| 10 | g.67811624A= | CA1917049505 | DNAJC12 | c.197T= (p.Leu66=) c.*216T= (n.*216T=) c.*117T= (n.*117T=) c.287T= (p.Leu96=) c.227T= (p.Leu76=) c.-50T= (n.-50T=) | |
| 10 | g.67811624A>C | CA377098748 | DNAJC12 | c.197T>G (p.Leu66Arg) c.*216T>G (n.*216T>G) c.*117T>G (n.*117T>G) c.287T>G (p.Leu96Arg) c.227T>G (p.Leu76Arg) c.-50T>G (n.-50T>G) | |
| 10 | g.67811624A>G | CA377098749 | DNAJC12 | c.197T>C (p.Leu66Pro) c.*216T>C (n.*216T>C) c.*117T>C (n.*117T>C) c.287T>C (p.Leu96Pro) c.227T>C (p.Leu76Pro) c.-50T>C (n.-50T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811624A>T | CA377098750 | DNAJC12 | c.197T>A (p.Leu66Gln) c.*216T>A (n.*216T>A) c.*117T>A (n.*117T>A) c.287T>A (p.Leu96Gln) c.227T>A (p.Leu76Gln) c.-50T>A (n.-50T>A) | |
| 10 | g.67811625G>A | CA469970095 | DNAJC12 | c.196C>T (p.Leu66=) c.*215C>T (n.*215C>T) c.*116C>T (n.*116C>T) c.286C>T (p.Leu96=) c.226C>T (p.Leu76=) c.-51C>T (n.-51C>T) | |
| 10 | g.67811625G>C | CA377098751 | DNAJC12 | c.196C>G (p.Leu66Val) c.*215C>G (n.*215C>G) c.*116C>G (n.*116C>G) c.286C>G (p.Leu96Val) c.226C>G (p.Leu76Val) c.-51C>G (n.-51C>G) | |
| 10 | g.67811625G>T | CA377098752 | DNAJC12 | c.196C>A (p.Leu66Met) c.*215C>A (n.*215C>A) c.*116C>A (n.*116C>A) c.286C>A (p.Leu96Met) c.226C>A (p.Leu76Met) c.-51C>A (n.-51C>A) | |
| 10 | g.67811626A>C | CA377098753 | DNAJC12 | c.195T>G (p.Ile65Met) c.*214T>G (n.*214T>G) c.*115T>G (n.*115T>G) c.285T>G (p.Ile95Met) c.225T>G (p.Ile75Met) c.-52T>G (n.-52T>G) | gnomAD v4 |
| 10 | g.67811626A>G | CA469970096 | DNAJC12 | c.195T>C (p.Ile65=) c.*214T>C (n.*214T>C) c.*115T>C (n.*115T>C) c.285T>C (p.Ile95=) c.225T>C (p.Ile75=) c.-52T>C (n.-52T>C) | |
| 10 | g.67811626A>T | CA469970097 | DNAJC12 | c.195T>A (p.Ile65=) c.*214T>A (n.*214T>A) c.*115T>A (n.*115T>A) c.285T>A (p.Ile95=) c.225T>A (p.Ile75=) c.-52T>A (n.-52T>A) | |
| 10 | g.67811627A= | CA1917049506 | DNAJC12 | c.194T= (p.Ile65=) c.*213T= (n.*213T=) c.*114T= (n.*114T=) c.284T= (p.Ile95=) c.224T= (p.Ile75=) c.-53T= (n.-53T=) | |
| 10 | g.67811627A>C | CA5520882 | DNAJC12 | c.194T>G (p.Ile65Ser) c.*213T>G (n.*213T>G) c.*114T>G (n.*114T>G) c.284T>G (p.Ile95Ser) c.224T>G (p.Ile75Ser) c.-53T>G (n.-53T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.67811627A>G | CA377098754 | DNAJC12 | c.194T>C (p.Ile65Thr) c.*213T>C (n.*213T>C) c.*114T>C (n.*114T>C) c.284T>C (p.Ile95Thr) c.224T>C (p.Ile75Thr) c.-53T>C (n.-53T>C) | dbSNP |
| 10 | g.67811627A>T | CA377098755 | DNAJC12 | c.194T>A (p.Ile65Asn) c.*213T>A (n.*213T>A) c.*114T>A (n.*114T>A) c.284T>A (p.Ile95Asn) c.224T>A (p.Ile75Asn) c.-53T>A (n.-53T>A) | |
| 10 | g.67811628T>A | CA377098756 | DNAJC12 | c.193A>T (p.Ile65Phe) c.*212A>T (n.*212A>T) c.*113A>T (n.*113A>T) c.283A>T (p.Ile95Phe) c.223A>T (p.Ile75Phe) c.-54A>T (n.-54A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.67811628T>C | CA377098757 | DNAJC12 | c.193A>G (p.Ile65Val) c.*212A>G (n.*212A>G) c.*113A>G (n.*113A>G) c.283A>G (p.Ile95Val) c.223A>G (p.Ile75Val) c.-54A>G (n.-54A>G) | |
| 10 | g.67811628T>G | CA377098758 | DNAJC12 | c.193A>C (p.Ile65Leu) c.*212A>C (n.*212A>C) c.*113A>C (n.*113A>C) c.283A>C (p.Ile95Leu) c.223A>C (p.Ile75Leu) c.-54A>C (n.-54A>C) | |
| 10 | g.67811628T= | CA1917049507 | DNAJC12 | c.193A= (p.Ile65=) c.*212A= (n.*212A=) c.*113A= (n.*113A=) c.283A= (p.Ile95=) c.223A= (p.Ile75=) c.-54A= (n.-54A=) | |
| 10 | g.67811629C>A | CA377098759 | DNAJC12 | c.192G>T (p.Glu64Asp) c.*211G>T (n.*211G>T) c.*112G>T (n.*112G>T) c.282G>T (p.Glu94Asp) c.222G>T (p.Glu74Asp) c.-55G>T (n.-55G>T) | gnomAD v4 |
| 10 | g.67811629C>G | CA377098760 | DNAJC12 | c.192G>C (p.Glu64Asp) c.*211G>C (n.*211G>C) c.*112G>C (n.*112G>C) c.282G>C (p.Glu94Asp) c.222G>C (p.Glu74Asp) c.-55G>C (n.-55G>C) | gnomAD v4 |
| 10 | g.67811629C>T | CA469970098 | DNAJC12 | c.192G>A (p.Glu64=) c.*211G>A (n.*211G>A) c.*112G>A (n.*112G>A) c.282G>A (p.Glu94=) c.222G>A (p.Glu74=) c.-55G>A (n.-55G>A) |