UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 12 | g.121847125A>G | CA387013881 | HPD | c.686T>C (p.Val229Ala) c.569T>C (p.Val190Ala) | |
| 12 | g.121847125A>T | CA387013884 | HPD | c.686T>A (p.Val229Glu) c.569T>A (p.Val190Glu) | |
| 12 | g.121847126C>A | CA387013887 | HPD | c.685G>T (p.Val229Leu) c.568G>T (p.Val190Leu) | |
| 12 | g.121847126C>G | CA387013890 | HPD | c.685G>C (p.Val229Leu) c.568G>C (p.Val190Leu) | |
| 12 | g.121847126C>T | CA387013891 | HPD | c.685G>A (p.Val229Met) c.568G>A (p.Val190Met) | gnomAD v4 |
| 12 | g.121847127C>A | CA482193501 | HPD | c.684G>T (p.Val228=) c.567G>T (p.Val189=) | |
| 12 | g.121847127C>G | CA482193503 | HPD | c.684G>C (p.Val228=) c.567G>C (p.Val189=) | |
| 12 | g.121847127C>T | CA482193502 | HPD | c.684G>A (p.Val228=) c.567G>A (p.Val189=) | ClinVar |
| 12 | g.121847128A= | CA2068078415 | HPD | c.683T= (p.Val228=) c.566T= (p.Val189=) | |
| 12 | g.121847128A>C | CA387013895 | HPD | c.683T>G (p.Val228Gly) c.566T>G (p.Val189Gly) | dbSNP |
| 12 | g.121847128A>G | CA387013901 | HPD | c.683T>C (p.Val228Ala) c.566T>C (p.Val189Ala) | |
| 12 | g.121847128A>T | CA387013892 | HPD | c.683T>A (p.Val228Glu) c.566T>A (p.Val189Glu) | |
| 12 | g.121847129C>A | CA387013905 | HPD | c.682G>T (p.Val228Leu) c.565G>T (p.Val189Leu) | |
| 12 | g.121847129C>G | CA387013919 | HPD | c.682G>C (p.Val228Leu) c.565G>C (p.Val189Leu) | gnomAD v4 |
| 12 | g.121847129C>T | CA387013916 | HPD | c.682G>A (p.Val228Met) c.565G>A (p.Val189Met) | |
| 12 | g.121847130A>C | CA387013922 | HPD | c.681T>G (p.Ile227Met) c.564T>G (p.Ile188Met) | |
| 12 | g.121847130A>G | CA482193505 | HPD | c.681T>C (p.Ile227=) c.564T>C (p.Ile188=) | |
| 12 | g.121847130A>T | CA482193506 | HPD | c.681T>A (p.Ile227=) c.564T>A (p.Ile188=) | |
| 12 | g.121847130_121847131insGAAACCTCAGGTTTCTGACTC | CA2621466438 | HPD | c.680_681insGAGTCAGAAACCTGAGGTTTC (p.Ile227delinsMetSerGlnLysProGluValSer) c.563_564insGAGTCAGAAACCTGAGGTTTC (p.Ile188delinsMetSerGlnLysProGluValSer) | gnomAD v4 |
| 12 | g.121847131A= | CA2068078420 | HPD | c.680T= (p.Ile227=) c.563T= (p.Ile188=) | |
| 12 | g.121847131A>C | CA387013959 | HPD | c.680T>G (p.Ile227Ser) c.563T>G (p.Ile188Ser) | |
| 12 | g.121847131A>G | CA387013930 | HPD | c.680T>C (p.Ile227Thr) c.563T>C (p.Ile188Thr) | dbSNP gnomAD v4 |
| 12 | g.121847131A>T | CA387013943 | HPD | c.680T>A (p.Ile227Asn) c.563T>A (p.Ile188Asn) | |
| 12 | g.121847132T>A | CA387013963 | HPD | c.679A>T (p.Ile227Phe) c.562A>T (p.Ile188Phe) | |
| 12 | g.121847132T>C | CA387013964 | HPD | c.679A>G (p.Ile227Val) c.562A>G (p.Ile188Val) | |
| 12 | g.121847132T>G | CA387013965 | HPD | c.679A>C (p.Ile227Leu) c.562A>C (p.Ile188Leu) | |
| 12 | g.121847133G>A | CA482193507 | HPD | c.678C>T (p.Ser226=) c.561C>T (p.Ser187=) | |
| 12 | g.121847133G>C | CA482193508 | HPD | c.678C>G (p.Ser226=) c.561C>G (p.Ser187=) | |
| 12 | g.121847133G>T | CA482193509 | HPD | c.678C>A (p.Ser226=) c.561C>A (p.Ser187=) | gnomAD v4 |
| 12 | g.121847134G>A | CA387013968 | HPD | c.677C>T (p.Ser226Phe) c.560C>T (p.Ser187Phe) | |
| 12 | g.121847134G>C | CA387013972 | HPD | c.677C>G (p.Ser226Cys) c.560C>G (p.Ser187Cys) | |
| 12 | g.121847134G>T | CA387013975 | HPD | c.677C>A (p.Ser226Tyr) c.560C>A (p.Ser187Tyr) | gnomAD v4 |
| 12 | g.121847135A>C | CA387013980 | HPD | c.676T>G (p.Ser226Ala) c.559T>G (p.Ser187Ala) | |
| 12 | g.121847135A>G | CA387013981 | HPD | c.676T>C (p.Ser226Pro) c.559T>C (p.Ser187Pro) | |
| 12 | g.121847135A>T | CA387013982 | HPD | c.676T>A (p.Ser226Thr) c.559T>A (p.Ser187Thr) | |
| 12 | g.121847136T>A | CA482193510 | HPD | c.675A>T (p.Arg225=) c.558A>T (p.Arg186=) | |
| 12 | g.121847136T>C | CA482193511 | HPD | c.675A>G (p.Arg225=) c.558A>G (p.Arg186=) | |
| 12 | g.121847136T>G | CA482193512 | HPD | c.675A>C (p.Arg225=) c.558A>C (p.Arg186=) | |
| 12 | g.121847137C>A | CA244671393 | HPD | c.674G>T (p.Arg225Leu) c.557G>T (p.Arg186Leu) | dbSNP gnomAD v4 |
| 12 | g.121847137C= | CA2068078427 | HPD | c.674G= (p.Arg225=) c.557G= (p.Arg186=) | |
| 12 | g.121847137C>G | CA387013987 | HPD | c.674G>C (p.Arg225Pro) c.557G>C (p.Arg186Pro) | |
| 12 | g.121847137C>T | CA244671396 | HPD | c.674G>A (p.Arg225Gln) c.557G>A (p.Arg186Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847138G>A | CA6839572 | HPD | c.673C>T (p.Arg225Ter) c.556C>T (p.Arg186Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.121847138G>C | CA387013997 | HPD | c.673C>G (p.Arg225Gly) c.556C>G (p.Arg186Gly) | |
| 12 | g.121847138G= | CA2068078448 | HPD | c.673C= (p.Arg225=) c.556C= (p.Arg186=) | |
| 12 | g.121847138G>T | CA6839573 | HPD | c.673C>A (p.Arg225=) c.556C>A (p.Arg186=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847139C>A | CA482193514 | HPD | c.672G>T (p.Leu224=) c.555G>T (p.Leu185=) | gnomAD v4 |
| 12 | g.121847139C>G | CA482193515 | HPD | c.672G>C (p.Leu224=) c.555G>C (p.Leu185=) | |
| 12 | g.121847139C>T | CA482193516 | HPD | c.672G>A (p.Leu224=) c.555G>A (p.Leu185=) | |
| 12 | g.121847140A>C | CA387014020 | HPD | c.671T>G (p.Leu224Arg) c.554T>G (p.Leu185Arg) | |
| 12 | g.121847140A>G | CA387014027 | HPD | c.671T>C (p.Leu224Pro) c.554T>C (p.Leu185Pro) | |
| 12 | g.121847140A>T | CA387014030 | HPD | c.671T>A (p.Leu224Gln) c.554T>A (p.Leu185Gln) | |
| 12 | g.121847141G>A | CA482193517 | HPD | c.670C>T (p.Leu224=) c.553C>T (p.Leu185=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.121847141G>C | CA387014044 | HPD | c.670C>G (p.Leu224Val) c.553C>G (p.Leu185Val) | gnomAD v4 |
| 12 | g.121847141G= | CA2068078455 | HPD | c.670C= (p.Leu224=) c.553C= (p.Leu185=) | |
| 12 | g.121847141G>T | CA387014045 | HPD | c.670C>A (p.Leu224Met) c.553C>A (p.Leu185Met) | |
| 12 | g.121847142A= | CA2068078458 | HPD | c.669T= (p.Ser223=) c.552T= (p.Ser184=) | |
| 12 | g.121847142A>C | CA482193518 | HPD | c.669T>G (p.Ser223=) c.552T>G (p.Ser184=) | |
| 12 | g.121847142A>G | CA482193519 | HPD | c.669T>C (p.Ser223=) c.552T>C (p.Ser184=) | dbSNP |
| 12 | g.121847142A>T | CA482193520 | HPD | c.669T>A (p.Ser223=) c.552T>A (p.Ser184=) | |
| 12 | g.121847143G>A | CA387014047 | HPD | c.668C>T (p.Ser223Phe) c.551C>T (p.Ser184Phe) | |
| 12 | g.121847143G>C | CA387014049 | HPD | c.668C>G (p.Ser223Cys) c.551C>G (p.Ser184Cys) | ClinVar gnomAD v4 |
| 12 | g.121847143G>T | CA387014055 | HPD | c.668C>A (p.Ser223Tyr) c.551C>A (p.Ser184Tyr) | |
| 12 | g.121847144A>C | CA387014099 | HPD | c.667T>G (p.Ser223Ala) c.550T>G (p.Ser184Ala) | |
| 12 | g.121847144A>G | CA387014084 | HPD | c.667T>C (p.Ser223Pro) c.550T>C (p.Ser184Pro) | |
| 12 | g.121847144A>T | CA387014060 | HPD | c.667T>A (p.Ser223Thr) c.550T>A (p.Ser184Thr) | |
| 12 | g.121847145G>A | CA6839575 | HPD | c.666C>T (p.Ser222=) c.549C>T (p.Ser183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847145G>C | CA387014107 | HPD | c.666C>G (p.Ser222Arg) c.549C>G (p.Ser183Arg) | |
| 12 | g.121847145G= | CA2068078463 | HPD | c.666C= (p.Ser222=) c.549C= (p.Ser183=) | |
| 12 | g.121847145G>T | CA6839574 | HPD | c.666C>A (p.Ser222Arg) c.549C>A (p.Ser183Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847146C>A | CA387014113 | HPD | c.665G>T (p.Ser222Ile) c.548G>T (p.Ser183Ile) | |
| 12 | g.121847146C>G | CA387014114 | HPD | c.665G>C (p.Ser222Thr) c.548G>C (p.Ser183Thr) | gnomAD v4 |
| 12 | g.121847146C>T | CA387014116 | HPD | c.665G>A (p.Ser222Asn) c.548G>A (p.Ser183Asn) | |
| 12 | g.121847147T>A | CA387014117 | HPD | c.664A>T (p.Ser222Cys) c.547A>T (p.Ser183Cys) | |
| 12 | g.121847147T>C | CA387014122 | HPD | c.664A>G (p.Ser222Gly) c.547A>G (p.Ser183Gly) | |
| 12 | g.121847147T>G | CA387014126 | HPD | c.664A>C (p.Ser222Arg) c.547A>C (p.Ser183Arg) | |
| 12 | g.121847148A= | CA2068078466 | HPD | c.663T= (p.Tyr221=) c.546T= (p.Tyr182=) | |
| 12 | g.121847148A>C | CA387014127 | HPD | c.663T>G (p.Tyr221Ter) c.546T>G (p.Tyr182Ter) | |
| 12 | g.121847148A>G | CA6839576 | HPD | c.663T>C (p.Tyr221=) c.546T>C (p.Tyr182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847148A>T | CA387014129 | HPD | c.663T>A (p.Tyr221Ter) c.546T>A (p.Tyr182Ter) | |
| 12 | g.121847149T>A | CA387014134 | HPD | c.662A>T (p.Tyr221Phe) c.545A>T (p.Tyr182Phe) | |
| 12 | g.121847149T>C | CA387014132 | HPD | c.662A>G (p.Tyr221Cys) c.545A>G (p.Tyr182Cys) | |
| 12 | g.121847149T>G | CA387014133 | HPD | c.662A>C (p.Tyr221Ser) c.545A>C (p.Tyr182Ser) | |
| 12 | g.121847150A>C | CA387014135 | HPD | c.661T>G (p.Tyr221Asp) c.544T>G (p.Tyr182Asp) | |
| 12 | g.121847150A>G | CA387014138 | HPD | c.661T>C (p.Tyr221His) c.544T>C (p.Tyr182His) | |
| 12 | g.121847150A>T | CA387014142 | HPD | c.661T>A (p.Tyr221Asn) c.544T>A (p.Tyr182Asn) | |
| 12 | g.121847151T>A | CA387014146 | HPD | c.660A>T (p.Glu220Asp) c.543A>T (p.Glu181Asp) | |
| 12 | g.121847151T>C | CA482193525 | HPD | c.660A>G (p.Glu220=) c.543A>G (p.Glu181=) | |
| 12 | g.121847151T>G | CA387014151 | HPD | c.660A>C (p.Glu220Asp) c.543A>C (p.Glu181Asp) | |
| 12 | g.121847152T>A | CA387014154 | HPD | c.659A>T (p.Glu220Val) c.542A>T (p.Glu181Val) | |
| 12 | g.121847152T>C | CA387014159 | HPD | c.659A>G (p.Glu220Gly) c.542A>G (p.Glu181Gly) | |
| 12 | g.121847152T>G | CA387014161 | HPD | c.659A>C (p.Glu220Ala) c.542A>C (p.Glu181Ala) | |
| 12 | g.121847153C>A | CA387014165 | HPD | c.658G>T (p.Glu220Ter) c.541G>T (p.Glu181Ter) | |
| 12 | g.121847153C= | CA2068078471 | HPD | c.658G= (p.Glu220=) c.541G= (p.Glu181=) | |
| 12 | g.121847153C>G | CA387014167 | HPD | c.658G>C (p.Glu220Gln) c.541G>C (p.Glu181Gln) | |
| 12 | g.121847153C>T | CA387014174 | HPD | c.658G>A (p.Glu220Lys) c.541G>A (p.Glu181Lys) | dbSNP |
| 12 | g.121847154C>A | CA482193529 | HPD | c.657G>T (p.Thr219=) c.540G>T (p.Thr180=) | |
| 12 | g.121847154C= | CA2068078477 | HPD | c.657G= (p.Thr219=) c.540G= (p.Thr180=) | |
| 12 | g.121847154C>G | CA482193530 | HPD | c.657G>C (p.Thr219=) c.540G>C (p.Thr180=) | |
| 12 | g.121847154C>T | CA6839577 | HPD | c.657G>A (p.Thr219=) c.540G>A (p.Thr180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847155G>A | CA6839578 | HPD | c.656C>T (p.Thr219Met) c.539C>T (p.Thr180Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847155G>C | CA387014181 | HPD | c.656C>G (p.Thr219Arg) c.539C>G (p.Thr180Arg) | gnomAD v4 |
| 12 | g.121847155G= | CA2068078480 | HPD | c.656C= (p.Thr219=) c.539C= (p.Thr180=) | |
| 12 | g.121847155G>T | CA387014180 | HPD | c.656C>A (p.Thr219Lys) c.539C>A (p.Thr180Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847156T>A | CA387014183 | HPD | c.655A>T (p.Thr219Ser) c.538A>T (p.Thr180Ser) | |
| 12 | g.121847156T>C | CA244671411 | HPD | c.655A>G (p.Thr219Ala) c.538A>G (p.Thr180Ala) | dbSNP gnomAD v4 |
| 12 | g.121847156T>G | CA387014199 | HPD | c.655A>C (p.Thr219Pro) c.538A>C (p.Thr180Pro) | |
| 12 | g.121847156T= | CA2068078485 | HPD | c.655A= (p.Thr219=) c.538A= (p.Thr180=) | |
| 12 | g.121847157G>A | CA482193531 | HPD | c.654C>T (p.His218=) c.537C>T (p.His179=) | |
| 12 | g.121847157G>C | CA387014202 | HPD | c.654C>G (p.His218Gln) c.537C>G (p.His179Gln) | |
| 12 | g.121847157G>T | CA387014204 | HPD | c.654C>A (p.His218Gln) c.537C>A (p.His179Gln) | |
| 12 | g.121847158T>A | CA387014214 | HPD | c.653A>T (p.His218Leu) c.536A>T (p.His179Leu) | |
| 12 | g.121847158T>C | CA387014206 | HPD | c.653A>G (p.His218Arg) c.536A>G (p.His179Arg) | |
| 12 | g.121847158T>G | CA387014205 | HPD | c.653A>C (p.His218Pro) c.536A>C (p.His179Pro) | |
| 12 | g.121847159G>A | CA6839579 | HPD | c.652C>T (p.His218Tyr) c.535C>T (p.His179Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847159G>C | CA387014220 | HPD | c.652C>G (p.His218Asp) c.535C>G (p.His179Asp) | |
| 12 | g.121847159G= | CA2068078493 | HPD | c.652C= (p.His218=) c.535C= (p.His179=) | |
| 12 | g.121847159G>T | CA387014221 | HPD | c.652C>A (p.His218Asn) c.535C>A (p.His179Asn) | |
| 12 | g.121847160C>A | CA482193533 | HPD | c.651G>T (p.Val217=) c.534G>T (p.Val178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847160C= | CA2068078504 | HPD | c.651G= (p.Val217=) c.534G= (p.Val178=) | |
| 12 | g.121847160C>G | CA482193534 | HPD | c.651G>C (p.Val217=) c.534G>C (p.Val178=) | |
| 12 | g.121847160C>T | CA482193535 | HPD | c.651G>A (p.Val217=) c.534G>A (p.Val178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847161A>C | CA387014222 | HPD | c.650T>G (p.Val217Gly) c.533T>G (p.Val178Gly) | |
| 12 | g.121847161A>G | CA387014225 | HPD | c.650T>C (p.Val217Ala) c.533T>C (p.Val178Ala) | |
| 12 | g.121847161A>T | CA387014228 | HPD | c.650T>A (p.Val217Glu) c.533T>A (p.Val178Glu) | |
| 12 | g.121847162C>A | CA244671419 | HPD | c.649G>T (p.Val217Leu) c.532G>T (p.Val178Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847162C= | CA2068078506 | HPD | c.649G= (p.Val217=) c.532G= (p.Val178=) | |
| 12 | g.121847162C>G | CA6839580 | HPD | c.649G>C (p.Val217Leu) c.532G>C (p.Val178Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847162C>T | CA387014254 | HPD | c.649G>A (p.Val217Met) c.532G>A (p.Val178Met) | |
| 12 | g.121847163C>A | CA387014261 | HPD | c.648G>T (p.Gln216His) c.531G>T (p.Gln177His) | |
| 12 | g.121847163C= | CA2068078510 | HPD | c.648G= (p.Gln216=) c.531G= (p.Gln177=) | |
| 12 | g.121847163C>G | CA387014262 | HPD | c.648G>C (p.Gln216His) c.531G>C (p.Gln177His) | |
| 12 | g.121847163C>T | CA482193536 | HPD | c.648G>A (p.Gln216=) c.531G>A (p.Gln177=) | dbSNP |
| 12 | g.121847164T>A | CA387014263 | HPD | c.647A>T (p.Gln216Leu) c.530A>T (p.Gln177Leu) | |
| 12 | g.121847164T>C | CA387014265 | HPD | c.647A>G (p.Gln216Arg) c.530A>G (p.Gln177Arg) | |
| 12 | g.121847164T>G | CA387014268 | HPD | c.647A>C (p.Gln216Pro) c.530A>C (p.Gln177Pro) | |
| 12 | g.121847165G>A | CA387014279 | HPD | c.646C>T (p.Gln216Ter) c.529C>T (p.Gln177Ter) | dbSNP |
| 12 | g.121847165G>C | CA387014282 | HPD | c.646C>G (p.Gln216Glu) c.529C>G (p.Gln177Glu) | |
| 12 | g.121847165G= | CA2068078513 | HPD | c.646C= (p.Gln216=) c.529C= (p.Gln177=) | |
| 12 | g.121847165G>T | CA387014289 | HPD | c.646C>A (p.Gln216Lys) c.529C>A (p.Gln177Lys) | |
| 12 | g.121847166C>A | CA482193537 | HPD | c.645G>T (p.Thr215=) c.528G>T (p.Thr176=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.121847166C= | CA2068078517 | HPD | c.645G= (p.Thr215=) c.528G= (p.Thr176=) | |
| 12 | g.121847166C>G | CA6839581 | HPD | c.645G>C (p.Thr215=) c.528G>C (p.Thr176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847166C>T | CA6839582 | HPD | c.645G>A (p.Thr215=) c.528G>A (p.Thr176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847167G>A | CA6839583 | HPD | c.644C>T (p.Thr215Met) c.527C>T (p.Thr176Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847167G>C | CA387014295 | HPD | c.644C>G (p.Thr215Arg) c.527C>G (p.Thr176Arg) | gnomAD v4 |
| 12 | g.121847167G= | CA2068078524 | HPD | c.644C= (p.Thr215=) c.527C= (p.Thr176=) | |
| 12 | g.121847167G>T | CA387014297 | HPD | c.644C>A (p.Thr215Lys) c.527C>A (p.Thr176Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121847168T>A | CA387014318 | HPD | c.643A>T (p.Thr215Ser) c.526A>T (p.Thr176Ser) | |
| 12 | g.121847168T>C | CA387014327 | HPD | c.643A>G (p.Thr215Ala) c.526A>G (p.Thr176Ala) | |
| 12 | g.121847168T>G | CA387014306 | HPD | c.643A>C (p.Thr215Pro) c.526A>C (p.Thr176Pro) | |
| 12 | g.121847168_121847169insTT | CA6839584 | HPD | c.643_644insAA (p.Thr215LysfsTer?) c.526_527insAA (p.Thr176LysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847169G>A | CA482193540 | HPD | c.642C>T (p.Asp214=) c.525C>T (p.Asp175=) | |
| 12 | g.121847169G>C | CA387014332 | HPD | c.642C>G (p.Asp214Glu) c.525C>G (p.Asp175Glu) | |
| 12 | g.121847169G>T | CA387014338 | HPD | c.642C>A (p.Asp214Glu) c.525C>A (p.Asp175Glu) | |
| 12 | g.121847170T>A | CA387014341 | HPD | c.641A>T (p.Asp214Val) c.524A>T (p.Asp175Val) | |
| 12 | g.121847170T>C | CA387014344 | HPD | c.641A>G (p.Asp214Gly) c.524A>G (p.Asp175Gly) | |
| 12 | g.121847170T>G | CA387014347 | HPD | c.641A>C (p.Asp214Ala) c.524A>C (p.Asp175Ala) | |
| 12 | g.121847171C>A | CA387014353 | HPD | c.640G>T (p.Asp214Tyr) c.523G>T (p.Asp175Tyr) | COSMIC |
| 12 | g.121847171C= | CA2068078527 | HPD | c.640G= (p.Asp214=) c.523G= (p.Asp175=) | |
| 12 | g.121847171C>G | CA387014348 | HPD | c.640G>C (p.Asp214His) c.523G>C (p.Asp175His) | |
| 12 | g.121847171C>T | CA387014351 | HPD | c.640G>A (p.Asp214Asn) c.523G>A (p.Asp175Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121847172A>C | CA387014356 | HPD | c.639T>G (p.Asp213Glu) c.522T>G (p.Asp174Glu) | |
| 12 | g.121847172A>G | CA482193541 | HPD | c.639T>C (p.Asp213=) c.522T>C (p.Asp174=) | |
| 12 | g.121847172A>T | CA387014359 | HPD | c.639T>A (p.Asp213Glu) c.522T>A (p.Asp174Glu) | |
| 12 | g.121847173T>A | CA387014364 | HPD | c.638A>T (p.Asp213Val) c.521A>T (p.Asp174Val) | |
| 12 | g.121847173T>C | CA387014366 | HPD | c.638A>G (p.Asp213Gly) c.521A>G (p.Asp174Gly) | |
| 12 | g.121847173T>G | CA387014368 | HPD | c.638A>C (p.Asp213Ala) c.521A>C (p.Asp174Ala) | |
| 12 | g.121847174C>A | CA387014375 | HPD | c.637G>T (p.Asp213Tyr) c.520G>T (p.Asp174Tyr) | |
| 12 | g.121847174C>G | CA387014406 | HPD | c.637G>C (p.Asp213His) c.520G>C (p.Asp174His) | |
| 12 | g.121847174C>T | CA387014387 | HPD | c.637G>A (p.Asp213Asn) c.520G>A (p.Asp174Asn) | COSMIC |
| 12 | g.121847175C>A | CA482193542 | HPD | c.636G>T (p.Val212=) c.519G>T (p.Val173=) | |
| 12 | g.121847175C>G | CA482193543 | HPD | c.636G>C (p.Val212=) c.519G>C (p.Val173=) | |
| 12 | g.121847175C>T | CA482193544 | HPD | c.636G>A (p.Val212=) c.519G>A (p.Val173=) | |
| 12 | g.121847176A>C | CA387014411 | HPD | c.635T>G (p.Val212Gly) c.518T>G (p.Val173Gly) | |
| 12 | g.121847176A>G | CA387014416 | HPD | c.635T>C (p.Val212Ala) c.518T>C (p.Val173Ala) | gnomAD v4 |
| 12 | g.121847176A>T | CA387014423 | HPD | c.635T>A (p.Val212Glu) c.518T>A (p.Val173Glu) | |
| 12 | g.121847177C>A | CA387014429 | HPD | c.634G>T (p.Val212Leu) c.517G>T (p.Val173Leu) | |
| 12 | g.121847177C= | CA2068078535 | HPD | c.634G= (p.Val212=) c.517G= (p.Val173=) | |
| 12 | g.121847177C>G | CA387014433 | HPD | c.634G>C (p.Val212Leu) c.517G>C (p.Val173Leu) | |
| 12 | g.121847177C>T | CA6839585 | HPD | c.634G>A (p.Val212Met) c.517G>A (p.Val173Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847178G>A | CA6839586 | HPD | c.633C>T (p.Ser211=) c.516C>T (p.Ser172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847178G>C | CA482193546 | HPD | c.633C>G (p.Ser211=) c.516C>G (p.Ser172=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847178G= | CA2068078545 | HPD | c.633C= (p.Ser211=) c.516C= (p.Ser172=) | |
| 12 | g.121847178G>T | CA482193548 | HPD | c.633C>A (p.Ser211=) c.516C>A (p.Ser172=) | |
| 12 | g.121847179G>A | CA387014445 | HPD | c.632C>T (p.Ser211Phe) c.515C>T (p.Ser172Phe) | |
| 12 | g.121847179G>C | CA6839587 | HPD | c.632C>G (p.Ser211Cys) c.515C>G (p.Ser172Cys) | dbSNP ExAC gnomAD v2 |
| 12 | g.121847179G= | CA2068078549 | HPD | c.632C= (p.Ser211=) c.515C= (p.Ser172=) | |
| 12 | g.121847179G>T | CA387014446 | HPD | c.632C>A (p.Ser211Tyr) c.515C>A (p.Ser172Tyr) | |
| 12 | g.121847180A>C | CA387014451 | HPD | c.631T>G (p.Ser211Ala) c.514T>G (p.Ser172Ala) | |
| 12 | g.121847180A>G | CA387014448 | HPD | c.631T>C (p.Ser211Pro) c.514T>C (p.Ser172Pro) | |
| 12 | g.121847180A>T | CA387014450 | HPD | c.631T>A (p.Ser211Thr) c.514T>A (p.Ser172Thr) | |
| 12 | g.121847181C>A | CA387014463 | HPD | c.630G>T (p.Trp210Cys) c.513G>T (p.Trp171Cys) | |
| 12 | g.121847181C>G | CA387014474 | HPD | c.630G>C (p.Trp210Cys) c.513G>C (p.Trp171Cys) | |
| 12 | g.121847181C>T | CA387014470 | HPD | c.630G>A (p.Trp210Ter) c.513G>A (p.Trp171Ter) | |
| 12 | g.121847182C>A | CA387014475 | HPD | c.629G>T (p.Trp210Leu) c.512G>T (p.Trp171Leu) | |
| 12 | g.121847182C>G | CA387014478 | HPD | c.629G>C (p.Trp210Ser) c.512G>C (p.Trp171Ser) | |
| 12 | g.121847182C>T | CA387014476 | HPD | c.629G>A (p.Trp210Ter) c.512G>A (p.Trp171Ter) | |
| 12 | g.121847183A= | CA2068078560 | HPD | c.628T= (p.Trp210=) c.511T= (p.Trp171=) | |
| 12 | g.121847183A>C | CA387014480 | HPD | c.628T>G (p.Trp210Gly) c.511T>G (p.Trp171Gly) | dbSNP |
| 12 | g.121847183A>G | CA387014484 | HPD | c.628T>C (p.Trp210Arg) c.511T>C (p.Trp171Arg) | gnomAD v4 |
| 12 | g.121847183A>T | CA387014490 | HPD | c.628T>A (p.Trp210Arg) c.511T>A (p.Trp171Arg) | |
| 12 | g.121847184G>A | CA482193551 | HPD | c.627C>T (p.Phe209=) c.510C>T (p.Phe170=) | gnomAD v4 |
| 12 | g.121847184G>C | CA387014494 | HPD | c.627C>G (p.Phe209Leu) c.510C>G (p.Phe170Leu) | |
| 12 | g.121847184G>T | CA387014497 | HPD | c.627C>A (p.Phe209Leu) c.510C>A (p.Phe170Leu) | |
| 12 | g.121847185A>C | CA387014502 | HPD | c.626T>G (p.Phe209Cys) c.509T>G (p.Phe170Cys) | |
| 12 | g.121847185A>G | CA387014501 | HPD | c.626T>C (p.Phe209Ser) c.509T>C (p.Phe170Ser) | |
| 12 | g.121847185A>T | CA387014500 | HPD | c.626T>A (p.Phe209Tyr) c.509T>A (p.Phe170Tyr) | |
| 12 | g.121847186A>C | CA387014503 | HPD | c.625T>G (p.Phe209Val) c.508T>G (p.Phe170Val) | |
| 12 | g.121847186A>G | CA387014507 | HPD | c.625T>C (p.Phe209Leu) c.508T>C (p.Phe170Leu) | |
| 12 | g.121847186A>T | CA387014514 | HPD | c.625T>A (p.Phe209Ile) c.508T>A (p.Phe170Ile) | |
| 12 | g.121847187G>A | CA482193553 | HPD | c.624C>T (p.Arg208=) c.507C>T (p.Arg169=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847187G>C | CA482193554 | HPD | c.624C>G (p.Arg208=) c.507C>G (p.Arg169=) | |
| 12 | g.121847187G= | CA2068078563 | HPD | c.624C= (p.Arg208=) c.507C= (p.Arg169=) | |
| 12 | g.121847187G>T | CA482193555 | HPD | c.624C>A (p.Arg208=) c.507C>A (p.Arg169=) | |
| 12 | g.121847188C>A | CA387014522 | HPD | c.623G>T (p.Arg208Leu) c.506G>T (p.Arg169Leu) | dbSNP |
| 12 | g.121847188C= | CA2068078568 | HPD | c.623G= (p.Arg208=) c.506G= (p.Arg169=) | |
| 12 | g.121847188C>G | CA387014524 | HPD | c.623G>C (p.Arg208Pro) c.506G>C (p.Arg169Pro) | |
| 12 | g.121847188C>T | CA6839588 | HPD | c.623G>A (p.Arg208His) c.506G>A (p.Arg169His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121847189G>A | CA387014536 | HPD | c.622C>T (p.Arg208Cys) c.505C>T (p.Arg169Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847189G>C | CA387014531 | HPD | c.622C>G (p.Arg208Gly) c.505C>G (p.Arg169Gly) | |
| 12 | g.121847189G= | CA2068078592 | HPD | c.622C= (p.Arg208=) c.505C= (p.Arg169=) | |
| 12 | g.121847189G>T | CA387014534 | HPD | c.622C>A (p.Arg208Ser) c.505C>A (p.Arg169Ser) | dbSNP |
| 12 | g.121847190G>A | CA482193557 | HPD | c.621C>T (p.His207=) c.504C>T (p.His168=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121847190G>C | CA387014541 | HPD | c.621C>G (p.His207Gln) c.504C>G (p.His168Gln) | |
| 12 | g.121847190G= | CA2068078597 | HPD | c.621C= (p.His207=) c.504C= (p.His168=) | |
| 12 | g.121847190G>T | CA387014544 | HPD | c.621C>A (p.His207Gln) c.504C>A (p.His168Gln) | |
| 12 | g.121847191T>A | CA387014549 | HPD | c.620A>T (p.His207Leu) c.503A>T (p.His168Leu) | |
| 12 | g.121847191T>C | CA387014559 | HPD | c.620A>G (p.His207Arg) c.503A>G (p.His168Arg) | |
| 12 | g.121847191T>G | CA387014561 | HPD | c.620A>C (p.His207Pro) c.503A>C (p.His168Pro) | |
| 12 | g.121847192G>A | CA387014566 | HPD | c.619C>T (p.His207Tyr) c.502C>T (p.His168Tyr) | |
| 12 | g.121847192G>C | CA387014570 | HPD | c.619C>G (p.His207Asp) c.502C>G (p.His168Asp) | |
| 12 | g.121847192G>T | CA387014587 | HPD | c.619C>A (p.His207Asn) c.502C>A (p.His168Asn) | |
| 12 | g.121847193del | CA2575327752 | HPD | c.619del (p.His207ThrfsTer?) c.502del (p.His168ThrfsTer?) | |
| 12 | g.121847193G>A | CA482193560 | HPD | c.618C>T (p.Phe206=) c.501C>T (p.Phe167=) | ClinVar |
| 12 | g.121847193G>C | CA387014591 | HPD | c.618C>G (p.Phe206Leu) c.501C>G (p.Phe167Leu) | |
| 12 | g.121847193G>T | CA387014600 | HPD | c.618C>A (p.Phe206Leu) c.501C>A (p.Phe167Leu) | |
| 12 | g.121847194A>C | CA387014606 | HPD | c.617T>G (p.Phe206Cys) c.500T>G (p.Phe167Cys) | |
| 12 | g.121847194A>G | CA387014616 | HPD | c.617T>C (p.Phe206Ser) c.500T>C (p.Phe167Ser) | |
| 12 | g.121847194A>T | CA387014620 | HPD | c.617T>A (p.Phe206Tyr) c.500T>A (p.Phe167Tyr) | |
| 12 | g.121847195A>C | CA387014632 | HPD | c.616T>G (p.Phe206Val) c.499T>G (p.Phe167Val) | |
| 12 | g.121847195A>G | CA387014623 | HPD | c.616T>C (p.Phe206Leu) c.499T>C (p.Phe167Leu) | |
| 12 | g.121847195A>T | CA387014628 | HPD | c.616T>A (p.Phe206Ile) c.499T>A (p.Phe167Ile) | |
| 12 | g.121847196C>A | CA387014633 | HPD | c.615G>T (p.Gln205His) c.498G>T (p.Gln166His) | |
| 12 | g.121847196C= | CA2068078598 | HPD | c.615G= (p.Gln205=) c.498G= (p.Gln166=) | |
| 12 | g.121847196C>G | CA387014634 | HPD | c.615G>C (p.Gln205His) c.498G>C (p.Gln166His) | |
| 12 | g.121847196C>T | CA482193562 | HPD | c.615G>A (p.Gln205=) c.498G>A (p.Gln166=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847197T>A | CA387014638 | HPD | c.614A>T (p.Gln205Leu) c.497A>T (p.Gln166Leu) | |
| 12 | g.121847197T>C | CA387014645 | HPD | c.614A>G (p.Gln205Arg) c.497A>G (p.Gln166Arg) | |
| 12 | g.121847197T>G | CA387014652 | HPD | c.614A>C (p.Gln205Pro) c.497A>C (p.Gln166Pro) | |
| 12 | g.121847198G>A | CA6839589 | HPD | c.613C>T (p.Gln205Ter) c.496C>T (p.Gln166Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847198G>C | CA387014665 | HPD | c.613C>G (p.Gln205Glu) c.496C>G (p.Gln166Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121847198G= | CA2068078601 | HPD | c.613C= (p.Gln205=) c.496C= (p.Gln166=) | |
| 12 | g.121847198G>T | CA387014668 | HPD | c.613C>A (p.Gln205Lys) c.496C>A (p.Gln166Lys) | dbSNP |
| 12 | g.121847199C>A | CA482193563 | HPD | c.612G>T (p.Leu204=) c.495G>T (p.Leu165=) | |
| 12 | g.121847199C= | CA2068078606 | HPD | c.612G= (p.Leu204=) c.495G= (p.Leu165=) | |
| 12 | g.121847199C>G | CA482193564 | HPD | c.612G>C (p.Leu204=) c.495G>C (p.Leu165=) | |
| 12 | g.121847199C>T | CA244671444 | HPD | c.612G>A (p.Leu204=) c.495G>A (p.Leu165=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847200A>C | CA387014675 | HPD | c.611T>G (p.Leu204Arg) c.494T>G (p.Leu165Arg) | |
| 12 | g.121847200A>G | CA387014680 | HPD | c.611T>C (p.Leu204Pro) c.494T>C (p.Leu165Pro) | |
| 12 | g.121847200A>T | CA387014683 | HPD | c.611T>A (p.Leu204Gln) c.494T>A (p.Leu165Gln) | |
| 12 | g.121847201G>A | CA244671451 | HPD | c.610C>T (p.Leu204=) c.493C>T (p.Leu165=) | dbSNP gnomAD v4 |
| 12 | g.121847201G>C | CA387014706 | HPD | c.610C>G (p.Leu204Val) c.493C>G (p.Leu165Val) | |
| 12 | g.121847201G= | CA2068078612 | HPD | c.610C= (p.Leu204=) c.493C= (p.Leu165=) | |
| 12 | g.121847201G>T | CA387014687 | HPD | c.610C>A (p.Leu204Met) c.493C>A (p.Leu165Met) | |
| 12 | g.121847202G>A | CA482193565 | HPD | c.609C>T (p.Asn203=) c.492C>T (p.Asn164=) | |
| 12 | g.121847202G>C | CA387014709 | HPD | c.609C>G (p.Asn203Lys) c.492C>G (p.Asn164Lys) | |
| 12 | g.121847202G>T | CA387014710 | HPD | c.609C>A (p.Asn203Lys) c.492C>A (p.Asn164Lys) | |
| 12 | g.121847203T>A | CA387014715 | HPD | c.608A>T (p.Asn203Ile) c.491A>T (p.Asn164Ile) | |
| 12 | g.121847203T>C | CA387014717 | HPD | c.608A>G (p.Asn203Ser) c.491A>G (p.Asn164Ser) | gnomAD v4 |
| 12 | g.121847203T>G | CA387014720 | HPD | c.608A>C (p.Asn203Thr) c.491A>C (p.Asn164Thr) | |
| 12 | g.121847204T>A | CA387014728 | HPD | c.607A>T (p.Asn203Tyr) c.490A>T (p.Asn164Tyr) | |
| 12 | g.121847204T>C | CA387014730 | HPD | c.607A>G (p.Asn203Asp) c.490A>G (p.Asn164Asp) | |
| 12 | g.121847204T>G | CA387014731 | HPD | c.607A>C (p.Asn203His) c.490A>C (p.Asn164His) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121847204T= | CA2068078618 | HPD | c.607A= (p.Asn203=) c.490A= (p.Asn164=) | |
| 12 | g.121847205T>A | CA387014735 | HPD | c.606A>T (p.Lys202Asn) c.489A>T (p.Lys163Asn) | |
| 12 | g.121847205T>C | CA482193566 | HPD | c.606A>G (p.Lys202=) c.489A>G (p.Lys163=) | |
| 12 | g.121847205T>G | CA387014740 | HPD | c.606A>C (p.Lys202Asn) c.489A>C (p.Lys163Asn) | |
| 12 | g.121847206T>A | CA387014743 | HPD | c.605A>T (p.Lys202Ile) c.488A>T (p.Lys163Ile) | |
| 12 | g.121847206T>C | CA387014744 | HPD | c.605A>G (p.Lys202Arg) c.488A>G (p.Lys163Arg) | |
| 12 | g.121847206T>G | CA387014745 | HPD | c.605A>C (p.Lys202Thr) c.488A>C (p.Lys163Thr) | |
| 12 | g.121847207T>A | CA387014754 | HPD | c.604A>T (p.Lys202Ter) c.487A>T (p.Lys163Ter) | |
| 12 | g.121847207T>C | CA387014755 | HPD | c.604A>G (p.Lys202Glu) c.487A>G (p.Lys163Glu) | gnomAD v4 |
| 12 | g.121847207T>G | CA387014749 | HPD | c.604A>C (p.Lys202Gln) c.487A>C (p.Lys163Gln) | |
| 12 | g.121847208C>A | CA482193569 | HPD | c.603G>T (p.Leu201=) c.486G>T (p.Leu162=) | gnomAD v4 |
| 12 | g.121847208C>G | CA482193570 | HPD | c.603G>C (p.Leu201=) c.486G>C (p.Leu162=) | |
| 12 | g.121847208C>T | CA482193571 | HPD | c.603G>A (p.Leu201=) c.486G>A (p.Leu162=) | |
| 12 | g.121847209A>C | CA387014759 | HPD | c.602T>G (p.Leu201Arg) c.485T>G (p.Leu162Arg) | |
| 12 | g.121847209A>G | CA387014761 | HPD | c.602T>C (p.Leu201Pro) c.485T>C (p.Leu162Pro) | |
| 12 | g.121847209A>T | CA387014768 | HPD | c.602T>A (p.Leu201Gln) c.485T>A (p.Leu162Gln) | |
| 12 | g.121847210G>A | CA482193572 | HPD | c.601C>T (p.Leu201=) c.484C>T (p.Leu162=) | |
| 12 | g.121847210G>C | CA387014789 | HPD | c.601C>G (p.Leu201Val) c.484C>G (p.Leu162Val) | |
| 12 | g.121847210G>T | CA387014792 | HPD | c.601C>A (p.Leu201Met) c.484C>A (p.Leu162Met) | |
| 12 | g.121847211G>A | CA482193573 | HPD | c.600C>T (p.Tyr200=) c.483C>T (p.Tyr161=) | |
| 12 | g.121847211G>C | CA115062 | HPD | c.600C>G (p.Tyr200Ter) c.483C>G (p.Tyr161Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121847211G= | CA2068078627 | HPD | c.600C= (p.Tyr200=) c.483C= (p.Tyr161=) | |
| 12 | g.121847211G>T | CA387014814 | HPD | c.600C>A (p.Tyr200Ter) c.483C>A (p.Tyr161Ter) | |
| 12 | g.121847212T>A | CA387014818 | HPD | c.599A>T (p.Tyr200Phe) c.482A>T (p.Tyr161Phe) | |
| 12 | g.121847212T>C | CA387014819 | HPD | c.599A>G (p.Tyr200Cys) c.482A>G (p.Tyr161Cys) | |
| 12 | g.121847212T>G | CA387014820 | HPD | c.599A>C (p.Tyr200Ser) c.482A>C (p.Tyr161Ser) | |
| 12 | g.121847213A>C | CA387014825 | HPD | c.598T>G (p.Tyr200Asp) c.481T>G (p.Tyr161Asp) | |
| 12 | g.121847213A>G | CA387014833 | HPD | c.598T>C (p.Tyr200His) c.481T>C (p.Tyr161His) | |
| 12 | g.121847213A>T | CA387014837 | HPD | c.598T>A (p.Tyr200Asn) c.481T>A (p.Tyr161Asn) | gnomAD v4 |
| 12 | g.121847214C>A | CA387014841 | HPD | c.597G>T (p.Trp199Cys) c.480G>T (p.Trp160Cys) | gnomAD v4 |
| 12 | g.121847214C>G | CA387014839 | HPD | c.597G>C (p.Trp199Cys) c.480G>C (p.Trp160Cys) | |
| 12 | g.121847214C>T | CA387014838 | HPD | c.597G>A (p.Trp199Ter) c.480G>A (p.Trp160Ter) | |
| 12 | g.121847215C>A | CA387014846 | HPD | c.597-1G>T (n.597-1G>T) c.480-1G>T (n.480-1G>T) | |
| 12 | g.121847215C= | CA2068078632 | HPD | c.597-1G= (n.597-1G=) c.480-1G= (n.480-1G=) | |
| 12 | g.121847215C>G | CA387014847 | HPD | c.597-1G>C (n.597-1G>C) c.480-1G>C (n.480-1G>C) | gnomAD v4 |
| 12 | g.121847215C>T | CA244671458 | HPD | c.597-1G>A (n.597-1G>A) c.480-1G>A (n.480-1G>A) | ClinVar dbSNP |
| 12 | g.121847216T>A | CA387014848 | HPD | c.597-2A>T (n.597-2A>T) c.480-2A>T (n.480-2A>T) | |
| 12 | g.121847216T>C | CA387014849 | HPD | c.597-2A>G (n.597-2A>G) c.480-2A>G (n.480-2A>G) | |
| 12 | g.121847216T>G | CA387014850 | HPD | c.597-2A>C (n.597-2A>C) c.480-2A>C (n.480-2A>C) | |
| 12 | g.121847217G>A | CA2621466439 | HPD | c.597-3C>T (n.597-3C>T) c.480-3C>T (n.480-3C>T) | gnomAD v4 |