Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.121847111_121847112del | CA2621466436 | HPD | c.701_702del (p.Glu234ValfsTer8) c.584_585del (p.Glu195ValfsTer8) | gnomAD v4 |
12 | g.121847111C>A | CA387013774 | HPD | c.700G>T (p.Glu234Ter) c.583G>T (p.Glu195Ter) | |
12 | g.121847111C= | CA2068078393 | HPD | c.700G= (p.Glu234=) c.583G= (p.Glu195=) | |
12 | g.121847111C>G | CA387013776 | HPD | c.700G>C (p.Glu234Gln) c.583G>C (p.Glu195Gln) | |
12 | g.121847111C>T | CA244671387 | HPD | c.700G>A (p.Glu234Lys) c.583G>A (p.Glu195Lys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.121847112T>A | CA387013782 | HPD | c.699A>T (p.Glu233Asp) c.582A>T (p.Glu194Asp) | |
12 | g.121847112T>C | CA482193491 | HPD | c.699A>G (p.Glu233=) c.582A>G (p.Glu194=) | ClinVar gnomAD v4 |
12 | g.121847112T>G | CA387013783 | HPD | c.699A>C (p.Glu233Asp) c.582A>C (p.Glu194Asp) | |
12 | g.121847112_121847113dup | CA6839571 | HPD | c.698_699dup (p.Glu234LysfsTer?) c.581_582dup (p.Glu195LysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121847113T>A | CA387013788 | HPD | c.698A>T (p.Glu233Val) c.581A>T (p.Glu194Val) | |
12 | g.121847113T>C | CA387013791 | HPD | c.698A>G (p.Glu233Gly) c.581A>G (p.Glu194Gly) | |
12 | g.121847113T>G | CA387013792 | HPD | c.698A>C (p.Glu233Ala) c.581A>C (p.Glu194Ala) | |
12 | g.121847114C>A | CA387013795 | HPD | c.697G>T (p.Glu233Ter) c.580G>T (p.Glu194Ter) | |
12 | g.121847114C>G | CA387013796 | HPD | c.697G>C (p.Glu233Gln) c.580G>C (p.Glu194Gln) | |
12 | g.121847114C>T | CA387013793 | HPD | c.697G>A (p.Glu233Lys) c.580G>A (p.Glu194Lys) | |
12 | g.121847115A>C | CA387013798 | HPD | c.696T>G (p.Tyr232Ter) c.579T>G (p.Tyr193Ter) | |
12 | g.121847115A>G | CA482193492 | HPD | c.696T>C (p.Tyr232=) c.579T>C (p.Tyr193=) | |
12 | g.121847115A>T | CA387013801 | HPD | c.696T>A (p.Tyr232Ter) c.579T>A (p.Tyr193Ter) | |
12 | g.121847116T>A | CA387013808 | HPD | c.695A>T (p.Tyr232Phe) c.578A>T (p.Tyr193Phe) | |
12 | g.121847116T>C | CA387013809 | HPD | c.695A>G (p.Tyr232Cys) c.578A>G (p.Tyr193Cys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.121847116T>G | CA387013810 | HPD | c.695A>C (p.Tyr232Ser) c.578A>C (p.Tyr193Ser) | |
12 | g.121847116T= | CA2068078398 | HPD | c.695A= (p.Tyr232=) c.578A= (p.Tyr193=) | |
12 | g.121847117A>C | CA387013811 | HPD | c.694T>G (p.Tyr232Asp) c.577T>G (p.Tyr193Asp) | |
12 | g.121847117A>G | CA387013815 | HPD | c.694T>C (p.Tyr232His) c.577T>C (p.Tyr193His) | |
12 | g.121847117A>T | CA387013823 | HPD | c.694T>A (p.Tyr232Asn) c.577T>A (p.Tyr193Asn) | gnomAD v4 |
12 | g.121847118G>A | CA482193493 | HPD | c.693C>T (p.Asn231=) c.576C>T (p.Asn192=) | |
12 | g.121847118G>C | CA387013827 | HPD | c.693C>G (p.Asn231Lys) c.576C>G (p.Asn192Lys) | dbSNP |
12 | g.121847118G= | CA2068078404 | HPD | c.693C= (p.Asn231=) c.576C= (p.Asn192=) | |
12 | g.121847118G>T | CA387013828 | HPD | c.693C>A (p.Asn231Lys) c.576C>A (p.Asn192Lys) | |
12 | g.121847119T>A | CA387013830 | HPD | c.692A>T (p.Asn231Ile) c.575A>T (p.Asn192Ile) | |
12 | g.121847119T>C | CA387013834 | HPD | c.692A>G (p.Asn231Ser) c.575A>G (p.Asn192Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.121847119T>G | CA387013840 | HPD | c.692A>C (p.Asn231Thr) c.575A>C (p.Asn192Thr) | |
12 | g.121847119T= | CA2068078414 | HPD | c.692A= (p.Asn231=) c.575A= (p.Asn192=) | |
12 | g.121847120T>A | CA387013853 | HPD | c.691A>T (p.Asn231Tyr) c.574A>T (p.Asn192Tyr) | |
12 | g.121847120T>C | CA387013851 | HPD | c.691A>G (p.Asn231Asp) c.574A>G (p.Asn192Asp) | |
12 | g.121847120T>G | CA387013852 | HPD | c.691A>C (p.Asn231His) c.574A>C (p.Asn192His) | |
12 | g.121847121G>A | CA482193494 | HPD | c.690C>T (p.Ala230=) c.573C>T (p.Ala191=) | |
12 | g.121847121G>C | CA482193496 | HPD | c.690C>G (p.Ala230=) c.573C>G (p.Ala191=) | |
12 | g.121847121G>T | CA482193495 | HPD | c.690C>A (p.Ala230=) c.573C>A (p.Ala191=) | |
12 | g.121847122G>A | CA387013860 | HPD | c.689C>T (p.Ala230Val) c.572C>T (p.Ala191Val) | dbSNP |
12 | g.121847122G>C | CA387013863 | HPD | c.689C>G (p.Ala230Gly) c.572C>G (p.Ala191Gly) | |
12 | g.121847122G>T | CA387013866 | HPD | c.689C>A (p.Ala230Asp) c.572C>A (p.Ala191Asp) | |
12 | g.121847123C>A | CA387013870 | HPD | c.688G>T (p.Ala230Ser) c.571G>T (p.Ala191Ser) | gnomAD v4 |
12 | g.121847123C>G | CA387013871 | HPD | c.688G>C (p.Ala230Pro) c.571G>C (p.Ala191Pro) | |
12 | g.121847123C>T | CA387013872 | HPD | c.688G>A (p.Ala230Thr) c.571G>A (p.Ala191Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.121847124C>A | CA482193498 | HPD | c.687G>T (p.Val229=) c.570G>T (p.Val190=) | |
12 | g.121847124C>G | CA482193499 | HPD | c.687G>C (p.Val229=) c.570G>C (p.Val190=) | |
12 | g.121847124C>T | CA482193500 | HPD | c.687G>A (p.Val229=) c.570G>A (p.Val190=) | |
12 | g.121847126_121847130dup | CA2621466437 | HPD | c.683_687dup (p.Ala230TrpfsTer?) c.566_570dup (p.Ala191TrpfsTer?) | gnomAD v4 |
12 | g.121847125A>C | CA387013878 | HPD | c.686T>G (p.Val229Gly) c.569T>G (p.Val190Gly) |