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 |
|---|---|---|---|---|---|
| 17 | g.81933287G>A | CA401536537 | PYCR1 | c.887C>T (p.Ala296Val) c.867+20C>T (n.867+20C>T) c.968C>T (p.Ala323Val) c.794C>T (p.Ala265Val) c.*69C>T (n.*69C>T) c.591C>T (n.591C>T) | |
| 17 | g.81933287G>C | CA401536540 | PYCR1 | c.887C>G (p.Ala296Gly) c.867+20C>G (n.867+20C>G) c.968C>G (p.Ala323Gly) c.794C>G (p.Ala265Gly) c.*69C>G (n.*69C>G) c.591C>G (n.591C>G) | |
| 17 | g.81933287G>T | CA401536538 | PYCR1 | c.887C>A (p.Ala296Glu) c.867+20C>A (n.867+20C>A) c.968C>A (p.Ala323Glu) c.794C>A (p.Ala265Glu) c.*69C>A (n.*69C>A) c.591C>A (n.591C>A) | |
| 17 | g.81933288C>A | CA401536542 | PYCR1 | c.886G>T (p.Ala296Ser) c.867+19G>T (n.867+19G>T) c.967G>T (p.Ala323Ser) c.793G>T (p.Ala265Ser) c.*68G>T (n.*68G>T) c.590G>T (n.590G>T) | |
| 17 | g.81933288C= | CA2278748909 | PYCR1 | c.886G= (p.Ala296=) c.867+19G= (n.867+19G=) c.967G= (p.Ala323=) c.793G= (p.Ala265=) c.*68G= (n.*68G=) c.590G= (n.590G=) | |
| 17 | g.81933288C>G | CA401536545 | PYCR1 | c.886G>C (p.Ala296Pro) c.867+19G>C (n.867+19G>C) c.967G>C (p.Ala323Pro) c.793G>C (p.Ala265Pro) c.*68G>C (n.*68G>C) c.590G>C (n.590G>C) | |
| 17 | g.81933288C>T | CA401536544 | PYCR1 | c.886G>A (p.Ala296Thr) c.867+19G>A (n.867+19G>A) c.967G>A (p.Ala323Thr) c.793G>A (p.Ala265Thr) c.*68G>A (n.*68G>A) c.590G>A (n.590G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933289A>C | CA502334160 | PYCR1 | c.885T>G (p.Pro295=) c.867+18T>G (n.867+18T>G) c.966T>G (p.Pro322=) c.792T>G (p.Pro264=) c.*67T>G (n.*67T>G) c.589T>G (n.589T>G) | |
| 17 | g.81933289A>G | CA502334164 | PYCR1 | c.885T>C (p.Pro295=) c.867+18T>C (n.867+18T>C) c.966T>C (p.Pro322=) c.792T>C (p.Pro264=) c.*67T>C (n.*67T>C) c.589T>C (n.589T>C) | gnomAD v4 |
| 17 | g.81933289A>T | CA502334166 | PYCR1 | c.885T>A (p.Pro295=) c.867+18T>A (n.867+18T>A) c.966T>A (p.Pro322=) c.792T>A (p.Pro264=) c.*67T>A (n.*67T>A) c.589T>A (n.589T>A) | |
| 17 | g.81933290G>A | CA401536546 | PYCR1 | c.884C>T (p.Pro295Leu) c.867+17C>T (n.867+17C>T) c.965C>T (p.Pro322Leu) c.791C>T (p.Pro264Leu) c.*66C>T (n.*66C>T) c.588C>T (n.588C>T) | gnomAD v4 |
| 17 | g.81933290G>C | CA401536548 | PYCR1 | c.884C>G (p.Pro295Arg) c.867+17C>G (n.867+17C>G) c.965C>G (p.Pro322Arg) c.791C>G (p.Pro264Arg) c.*66C>G (n.*66C>G) c.588C>G (n.588C>G) | |
| 17 | g.81933290G>T | CA401536547 | PYCR1 | c.884C>A (p.Pro295His) c.867+17C>A (n.867+17C>A) c.965C>A (p.Pro322His) c.791C>A (p.Pro264His) c.*66C>A (n.*66C>A) c.588C>A (n.588C>A) | COSMIC |
| 17 | g.81933293del | CA2640545597 | PYCR1 | c.884del (p.Pro295LeufsTer?) c.867+17del (n.867+17del) c.965del (p.Pro322LeufsTer?) c.791del (p.Pro264LeufsTer?) c.*66del (n.*66del) c.588del (n.588del) | gnomAD v4 |
| 17 | g.81933291G>A | CA401536550 | PYCR1 | c.883C>T (p.Pro295Ser) c.867+16C>T (n.867+16C>T) c.964C>T (p.Pro322Ser) c.790C>T (p.Pro264Ser) c.*65C>T (n.*65C>T) c.587C>T (n.587C>T) | |
| 17 | g.81933291G>C | CA401536552 | PYCR1 | c.883C>G (p.Pro295Ala) c.867+16C>G (n.867+16C>G) c.964C>G (p.Pro322Ala) c.790C>G (p.Pro264Ala) c.*65C>G (n.*65C>G) c.587C>G (n.587C>G) | |
| 17 | g.81933291G>T | CA401536554 | PYCR1 | c.883C>A (p.Pro295Thr) c.867+16C>A (n.867+16C>A) c.964C>A (p.Pro322Thr) c.790C>A (p.Pro264Thr) c.*65C>A (n.*65C>A) c.587C>A (n.587C>A) | |
| 17 | g.81933292G>A | CA502334179 | PYCR1 | c.882C>T (p.Ser294=) c.867+15C>T (n.867+15C>T) c.963C>T (p.Ser321=) c.789C>T (p.Ser263=) c.*64C>T (n.*64C>T) c.586C>T (n.586C>T) | |
| 17 | g.81933292G>C | CA502334182 | PYCR1 | c.882C>G (p.Ser294=) c.867+15C>G (n.867+15C>G) c.963C>G (p.Ser321=) c.789C>G (p.Ser263=) c.*64C>G (n.*64C>G) c.586C>G (n.586C>G) | |
| 17 | g.81933292G>T | CA502334185 | PYCR1 | c.882C>A (p.Ser294=) c.867+15C>A (n.867+15C>A) c.963C>A (p.Ser321=) c.789C>A (p.Ser263=) c.*64C>A (n.*64C>A) c.586C>A (n.586C>A) | |
| 17 | g.81933293G>A | CA401536555 | PYCR1 | c.881C>T (p.Ser294Phe) c.867+14C>T (n.867+14C>T) c.962C>T (p.Ser321Phe) c.788C>T (p.Ser263Phe) c.*63C>T (n.*63C>T) c.585C>T (n.585C>T) | gnomAD v4 |
| 17 | g.81933293G>C | CA401536557 | PYCR1 | c.881C>G (p.Ser294Cys) c.867+14C>G (n.867+14C>G) c.962C>G (p.Ser321Cys) c.788C>G (p.Ser263Cys) c.*63C>G (n.*63C>G) c.585C>G (n.585C>G) | |
| 17 | g.81933293G>T | CA401536558 | PYCR1 | c.881C>A (p.Ser294Tyr) c.867+14C>A (n.867+14C>A) c.962C>A (p.Ser321Tyr) c.788C>A (p.Ser263Tyr) c.*63C>A (n.*63C>A) c.585C>A (n.585C>A) | |
| 17 | g.81933294A>C | CA401536560 | PYCR1 | c.880T>G (p.Ser294Ala) c.867+13T>G (n.867+13T>G) c.961T>G (p.Ser321Ala) c.787T>G (p.Ser263Ala) c.*62T>G (n.*62T>G) c.584T>G (n.584T>G) | |
| 17 | g.81933294A>G | CA401536561 | PYCR1 | c.880T>C (p.Ser294Pro) c.867+13T>C (n.867+13T>C) c.961T>C (p.Ser321Pro) c.787T>C (p.Ser263Pro) c.*62T>C (n.*62T>C) c.584T>C (n.584T>C) | |
| 17 | g.81933294A>T | CA401536563 | PYCR1 | c.880T>A (p.Ser294Thr) c.867+13T>A (n.867+13T>A) c.961T>A (p.Ser321Thr) c.787T>A (p.Ser263Thr) c.*62T>A (n.*62T>A) c.584T>A (n.584T>A) | |
| 17 | g.81933295G>A | CA295134395 | PYCR1 | c.879C>T (p.Asp293=) c.867+12C>T (n.867+12C>T) c.960C>T (p.Asp320=) c.786C>T (p.Asp262=) c.*61C>T (n.*61C>T) c.583C>T (n.583C>T) | dbSNP |
| 17 | g.81933295G>C | CA401536564 | PYCR1 | c.879C>G (p.Asp293Glu) c.867+12C>G (n.867+12C>G) c.960C>G (p.Asp320Glu) c.786C>G (p.Asp262Glu) c.*61C>G (n.*61C>G) c.583C>G (n.583C>G) | |
| 17 | g.81933295G= | CA2278748910 | PYCR1 | c.879C= (p.Asp293=) c.867+12C= (n.867+12C=) c.960C= (p.Asp320=) c.786C= (p.Asp262=) c.*61C= (n.*61C=) c.583C= (n.583C=) | |
| 17 | g.81933295G>T | CA401536566 | PYCR1 | c.879C>A (p.Asp293Glu) c.867+12C>A (n.867+12C>A) c.960C>A (p.Asp320Glu) c.786C>A (p.Asp262Glu) c.*61C>A (n.*61C>A) c.583C>A (n.583C>A) | |
| 17 | g.81933296T>A | CA401536570 | PYCR1 | c.878A>T (p.Asp293Val) c.867+11A>T (n.867+11A>T) c.959A>T (p.Asp320Val) c.785A>T (p.Asp262Val) c.*60A>T (n.*60A>T) c.582A>T (n.582A>T) | |
| 17 | g.81933296T>C | CA401536569 | PYCR1 | c.878A>G (p.Asp293Gly) c.867+11A>G (n.867+11A>G) c.959A>G (p.Asp320Gly) c.785A>G (p.Asp262Gly) c.*60A>G (n.*60A>G) c.582A>G (n.582A>G) | |
| 17 | g.81933296T>G | CA401536568 | PYCR1 | c.878A>C (p.Asp293Ala) c.867+11A>C (n.867+11A>C) c.959A>C (p.Asp320Ala) c.785A>C (p.Asp262Ala) c.*60A>C (n.*60A>C) c.582A>C (n.582A>C) | gnomAD v4 |
| 17 | g.81933297C>A | CA401536572 | PYCR1 | c.877G>T (p.Asp293Tyr) c.867+10G>T (n.867+10G>T) c.958G>T (p.Asp320Tyr) c.784G>T (p.Asp262Tyr) c.*59G>T (n.*59G>T) c.581G>T (n.581G>T) | |
| 17 | g.81933297C= | CA2278748911 | PYCR1 | c.877G= (p.Asp293=) c.867+10G= (n.867+10G=) c.958G= (p.Asp320=) c.784G= (p.Asp262=) c.*59G= (n.*59G=) c.581G= (n.581G=) | |
| 17 | g.81933297C>G | CA401536574 | PYCR1 | c.877G>C (p.Asp293His) c.867+10G>C (n.867+10G>C) c.958G>C (p.Asp320His) c.784G>C (p.Asp262His) c.*59G>C (n.*59G>C) c.581G>C (n.581G>C) | |
| 17 | g.81933297C>T | CA8845242 | PYCR1 | c.877G>A (p.Asp293Asn) c.867+10G>A (n.867+10G>A) c.958G>A (p.Asp320Asn) c.784G>A (p.Asp262Asn) c.*59G>A (n.*59G>A) c.581G>A (n.581G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933298C>A | CA502334200 | PYCR1 | c.876G>T (p.Leu292=) c.867+9G>T (n.867+9G>T) c.957G>T (p.Leu319=) c.783G>T (p.Leu261=) c.*58G>T (n.*58G>T) c.580G>T (n.580G>T) | |
| 17 | g.81933298C= | CA2278748912 | PYCR1 | c.876G= (p.Leu292=) c.867+9G= (n.867+9G=) c.957G= (p.Leu319=) c.783G= (p.Leu261=) c.*58G= (n.*58G=) c.580G= (n.580G=) | |
| 17 | g.81933298C>G | CA502334205 | PYCR1 | c.876G>C (p.Leu292=) c.867+9G>C (n.867+9G>C) c.957G>C (p.Leu319=) c.783G>C (p.Leu261=) c.*58G>C (n.*58G>C) c.580G>C (n.580G>C) | |
| 17 | g.81933298C>T | CA8845243 | PYCR1 | c.876G>A (p.Leu292=) c.867+9G>A (n.867+9G>A) c.957G>A (p.Leu319=) c.783G>A (p.Leu261=) c.*58G>A (n.*58G>A) c.580G>A (n.580G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933299A= | CA2278748913 | PYCR1 | c.875T= (p.Leu292=) c.867+8T= (n.867+8T=) c.956T= (p.Leu319=) c.782T= (p.Leu261=) c.*57T= (n.*57T=) c.579T= (n.579T=) | |
| 17 | g.81933299A>C | CA401536576 | PYCR1 | c.875T>G (p.Leu292Arg) c.867+8T>G (n.867+8T>G) c.956T>G (p.Leu319Arg) c.782T>G (p.Leu261Arg) c.*57T>G (n.*57T>G) c.579T>G (n.579T>G) | |
| 17 | g.81933299A>G | CA8845244 | PYCR1 | c.875T>C (p.Leu292Pro) c.867+8T>C (n.867+8T>C) c.956T>C (p.Leu319Pro) c.782T>C (p.Leu261Pro) c.*57T>C (n.*57T>C) c.579T>C (n.579T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933299A>T | CA401536578 | PYCR1 | c.875T>A (p.Leu292Gln) c.867+8T>A (n.867+8T>A) c.956T>A (p.Leu319Gln) c.782T>A (p.Leu261Gln) c.*57T>A (n.*57T>A) c.579T>A (n.579T>A) | |
| 17 | g.81933300G>A | CA295134406 | PYCR1 | c.874C>T (p.Leu292=) c.867+7C>T (n.867+7C>T) c.955C>T (p.Leu319=) c.781C>T (p.Leu261=) c.*56C>T (n.*56C>T) c.578C>T (n.578C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81933300G>C | CA401536580 | PYCR1 | c.874C>G (p.Leu292Val) c.867+7C>G (n.867+7C>G) c.955C>G (p.Leu319Val) c.781C>G (p.Leu261Val) c.*56C>G (n.*56C>G) c.578C>G (n.578C>G) | |
| 17 | g.81933300G= | CA2278748914 | PYCR1 | c.874C= (p.Leu292=) c.867+7C= (n.867+7C=) c.955C= (p.Leu319=) c.781C= (p.Leu261=) c.*56C= (n.*56C=) c.578C= (n.578C=) | |
| 17 | g.81933300G>T | CA8845245 | PYCR1 | c.874C>A (p.Leu292Met) c.867+7C>A (n.867+7C>A) c.955C>A (p.Leu319Met) c.781C>A (p.Leu261Met) c.*56C>A (n.*56C>A) c.578C>A (n.578C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933301C>A | CA401536582 | PYCR1 | c.873G>T (p.Lys291Asn) c.867+6G>T (n.867+6G>T) c.954G>T (p.Lys318Asn) c.780G>T (p.Lys260Asn) c.*55G>T (n.*55G>T) c.577G>T (n.577G>T) | |
| 17 | g.81933301C>G | CA401536583 | PYCR1 | c.873G>C (p.Lys291Asn) c.867+6G>C (n.867+6G>C) c.954G>C (p.Lys318Asn) c.780G>C (p.Lys260Asn) c.*55G>C (n.*55G>C) c.577G>C (n.577G>C) | |
| 17 | g.81933301C>T | CA502334218 | PYCR1 | c.873G>A (p.Lys291=) c.867+6G>A (n.867+6G>A) c.954G>A (p.Lys318=) c.780G>A (p.Lys260=) c.*55G>A (n.*55G>A) c.577G>A (n.577G>A) | gnomAD v4 |
| 17 | g.81933302T>A | CA401536588 | PYCR1 | c.872A>T (p.Lys291Met) c.867+5A>T (n.867+5A>T) c.953A>T (p.Lys318Met) c.779A>T (p.Lys260Met) c.*54A>T (n.*54A>T) c.576A>T (n.576A>T) | |
| 17 | g.81933302T>C | CA401536587 | PYCR1 | c.872A>G (p.Lys291Arg) c.867+5A>G (n.867+5A>G) c.953A>G (p.Lys318Arg) c.779A>G (p.Lys260Arg) c.*54A>G (n.*54A>G) c.576A>G (n.576A>G) | |
| 17 | g.81933302T>G | CA401536585 | PYCR1 | c.872A>C (p.Lys291Thr) c.867+5A>C (n.867+5A>C) c.953A>C (p.Lys318Thr) c.779A>C (p.Lys260Thr) c.*54A>C (n.*54A>C) c.576A>C (n.576A>C) | |
| 17 | g.81933303T>A | CA401536590 | PYCR1 | c.871A>T (p.Lys291Ter) c.867+4A>T (n.867+4A>T) c.952A>T (p.Lys318Ter) c.778A>T (p.Lys260Ter) c.*53A>T (n.*53A>T) c.575A>T (n.575A>T) | gnomAD v4 |
| 17 | g.81933303T>C | CA401536592 | PYCR1 | c.871A>G (p.Lys291Glu) c.867+4A>G (n.867+4A>G) c.952A>G (p.Lys318Glu) c.778A>G (p.Lys260Glu) c.*53A>G (n.*53A>G) c.575A>G (n.575A>G) | |
| 17 | g.81933303T>G | CA401536594 | PYCR1 | c.871A>C (p.Lys291Gln) c.867+4A>C (n.867+4A>C) c.952A>C (p.Lys318Gln) c.778A>C (p.Lys260Gln) c.*53A>C (n.*53A>C) c.575A>C (n.575A>C) | |
| 17 | g.81933304C>A | CA502334228 | PYCR1 | c.870G>T (p.Val290=) c.867+3G>T (n.867+3G>T) c.951G>T (p.Val317=) c.777G>T (p.Val259=) c.*52G>T (n.*52G>T) c.574G>T (n.574G>T) | gnomAD v4 |
| 17 | g.81933304C= | CA2278748915 | PYCR1 | c.870G= (p.Val290=) c.867+3G= (n.867+3G=) c.951G= (p.Val317=) c.777G= (p.Val259=) c.*52G= (n.*52G=) c.574G= (n.574G=) | |
| 17 | g.81933304C>G | CA502334230 | PYCR1 | c.870G>C (p.Val290=) c.867+3G>C (n.867+3G>C) c.951G>C (p.Val317=) c.777G>C (p.Val259=) c.*52G>C (n.*52G>C) c.574G>C (n.574G>C) | |
| 17 | g.81933304C>T | CA502334232 | PYCR1 | c.870G>A (p.Val290=) c.867+3G>A (n.867+3G>A) c.951G>A (p.Val317=) c.777G>A (p.Val259=) c.*52G>A (n.*52G>A) c.574G>A (n.574G>A) | dbSNP gnomAD v2 |
| 17 | g.81933305A>C | CA401536595 | PYCR1 | c.869T>G (p.Val290Gly) c.867+2T>G (n.867+2T>G) c.950T>G (p.Val317Gly) c.776T>G (p.Val259Gly) c.*51T>G (n.*51T>G) c.573T>G (n.573T>G) | |
| 17 | g.81933305A>G | CA401536596 | PYCR1 | c.869T>C (p.Val290Ala) c.867+2T>C (n.867+2T>C) c.950T>C (p.Val317Ala) c.776T>C (p.Val259Ala) c.*51T>C (n.*51T>C) c.573T>C (n.573T>C) | |
| 17 | g.81933305A>T | CA401536597 | PYCR1 | c.869T>A (p.Val290Glu) c.867+2T>A (n.867+2T>A) c.950T>A (p.Val317Glu) c.776T>A (p.Val259Glu) c.*51T>A (n.*51T>A) c.573T>A (n.573T>A) | |
| 17 | g.81933306C>A | CA401536598 | PYCR1 | c.868G>T (p.Val290Leu) c.867+1G>T (n.867+1G>T) c.949G>T (p.Val317Leu) c.775G>T (p.Val259Leu) c.*50G>T (n.*50G>T) c.572G>T (n.572G>T) | |
| 17 | g.81933306C= | CA2278748916 | PYCR1 | c.868G= (p.Val290=) c.867+1G= (n.867+1G=) c.949G= (p.Val317=) c.775G= (p.Val259=) c.*50G= (n.*50G=) c.572G= (n.572G=) | |
| 17 | g.81933306C>G | CA401536599 | PYCR1 | c.868G>C (p.Val290Leu) c.867+1G>C (n.867+1G>C) c.949G>C (p.Val317Leu) c.775G>C (p.Val259Leu) c.*50G>C (n.*50G>C) c.572G>C (n.572G>C) | |
| 17 | g.81933306C>T | CA401536600 | PYCR1 | c.868G>A (p.Val290Met) c.867+1G>A (n.867+1G>A) c.949G>A (p.Val317Met) c.775G>A (p.Val259Met) c.*50G>A (n.*50G>A) c.572G>A (n.572G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933307C>A | CA401536601 | PYCR1 | c.867G>T (p.Lys289Asn) c.948G>T (p.Lys316Asn) c.774G>T (p.Lys258Asn) c.*49G>T (n.*49G>T) c.571G>T (n.571G>T) | |
| 17 | g.81933307C= | CA2278748917 | PYCR1 | c.867G= (p.Lys289=) c.948G= (p.Lys316=) c.774G= (p.Lys258=) c.*49G= (n.*49G=) c.571G= (n.571G=) | |
| 17 | g.81933307C>G | CA401536602 | PYCR1 | c.867G>C (p.Lys289Asn) c.948G>C (p.Lys316Asn) c.774G>C (p.Lys258Asn) c.*49G>C (n.*49G>C) c.571G>C (n.571G>C) | |
| 17 | g.81933307C>T | CA8845246 | PYCR1 | c.867G>A (p.Lys289=) c.948G>A (p.Lys316=) c.774G>A (p.Lys258=) c.*49G>A (n.*49G>A) c.571G>A (n.571G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933308T>A | CA401536604 | PYCR1 | c.866A>T (p.Lys289Met) c.947A>T (p.Lys316Met) c.773A>T (p.Lys258Met) c.*48A>T (n.*48A>T) c.570A>T (n.570A>T) | |
| 17 | g.81933308T>C | CA8845247 | PYCR1 | c.866A>G (p.Lys289Arg) c.947A>G (p.Lys316Arg) c.773A>G (p.Lys258Arg) c.*48A>G (n.*48A>G) c.570A>G (n.570A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933308T>G | CA401536603 | PYCR1 | c.866A>C (p.Lys289Thr) c.947A>C (p.Lys316Thr) c.773A>C (p.Lys258Thr) c.*48A>C (n.*48A>C) c.570A>C (n.570A>C) | dbSNP |
| 17 | g.81933308T= | CA2278748918 | PYCR1 | c.866A= (p.Lys289=) c.947A= (p.Lys316=) c.773A= (p.Lys258=) c.*48A= (n.*48A=) c.570A= (n.570A=) | |
| 17 | g.81933309dup | CA2640545619 | PYCR1 | c.866dup (p.Val290GlyfsTer?) c.866dup (p.Asp290GlyfsTer?) c.947dup (p.Val317GlyfsTer?) c.773dup (p.Val259GlyfsTer?) c.*48dup (n.*48dup) c.570dup (n.570dup) | gnomAD v4 |
| 17 | g.81933309T>A | CA401536605 | PYCR1 | c.865A>T (p.Lys289Ter) c.946A>T (p.Lys316Ter) c.772A>T (p.Lys258Ter) c.*47A>T (n.*47A>T) c.569A>T (n.569A>T) | |
| 17 | g.81933309T>C | CA401536606 | PYCR1 | c.865A>G (p.Lys289Glu) c.946A>G (p.Lys316Glu) c.772A>G (p.Lys258Glu) c.*47A>G (n.*47A>G) c.569A>G (n.569A>G) | gnomAD v4 |
| 17 | g.81933309T>G | CA401536607 | PYCR1 | c.865A>C (p.Lys289Gln) c.946A>C (p.Lys316Gln) c.772A>C (p.Lys258Gln) c.*47A>C (n.*47A>C) c.569A>C (n.569A>C) | |
| 17 | g.81933310G>A | CA502334244 | PYCR1 | c.864C>T (p.Asp288=) c.945C>T (p.Asp315=) c.771C>T (p.Asp257=) c.*46C>T (n.*46C>T) c.568C>T (n.568C>T) | |
| 17 | g.81933310G>C | CA8845248 | PYCR1 | c.864C>G (p.Asp288Glu) c.945C>G (p.Asp315Glu) c.771C>G (p.Asp257Glu) c.*46C>G (n.*46C>G) c.568C>G (n.568C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933310G= | CA2278748919 | PYCR1 | c.864C= (p.Asp288=) c.945C= (p.Asp315=) c.771C= (p.Asp257=) c.*46C= (n.*46C=) c.568C= (n.568C=) | |
| 17 | g.81933310G>T | CA401536608 | PYCR1 | c.864C>A (p.Asp288Glu) c.945C>A (p.Asp315Glu) c.771C>A (p.Asp257Glu) c.*46C>A (n.*46C>A) c.568C>A (n.568C>A) | |
| 17 | g.81933311T>A | CA401536609 | PYCR1 | c.863A>T (p.Asp288Val) c.944A>T (p.Asp315Val) c.770A>T (p.Asp257Val) c.*45A>T (n.*45A>T) c.567A>T (n.567A>T) | |
| 17 | g.81933311T>C | CA401536610 | PYCR1 | c.863A>G (p.Asp288Gly) c.944A>G (p.Asp315Gly) c.770A>G (p.Asp257Gly) c.*45A>G (n.*45A>G) c.567A>G (n.567A>G) | |
| 17 | g.81933311T>G | CA401536611 | PYCR1 | c.863A>C (p.Asp288Ala) c.944A>C (p.Asp315Ala) c.770A>C (p.Asp257Ala) c.*45A>C (n.*45A>C) c.567A>C (n.567A>C) | |
| 17 | g.81933312C>A | CA401536612 | PYCR1 | c.862G>T (p.Asp288Tyr) c.943G>T (p.Asp315Tyr) c.769G>T (p.Asp257Tyr) c.*44G>T (n.*44G>T) c.566G>T (n.566G>T) | |
| 17 | g.81933312C>G | CA401536613 | PYCR1 | c.862G>C (p.Asp288His) c.943G>C (p.Asp315His) c.769G>C (p.Asp257His) c.*44G>C (n.*44G>C) c.566G>C (n.566G>C) | |
| 17 | g.81933312C>T | CA401536614 | PYCR1 | c.862G>A (p.Asp288Asn) c.943G>A (p.Asp315Asn) c.769G>A (p.Asp257Asn) c.*44G>A (n.*44G>A) c.566G>A (n.566G>A) | gnomAD v4 |
| 17 | g.81933313C>A | CA502334257 | PYCR1 | c.861G>T (p.Leu287=) c.942G>T (p.Leu314=) c.768G>T (p.Leu256=) c.*43G>T (n.*43G>T) c.565G>T (n.565G>T) | |
| 17 | g.81933313C= | CA2278748920 | PYCR1 | c.861G= (p.Leu287=) c.942G= (p.Leu314=) c.768G= (p.Leu256=) c.*43G= (n.*43G=) c.565G= (n.565G=) | |
| 17 | g.81933313C>G | CA502334260 | PYCR1 | c.861G>C (p.Leu287=) c.942G>C (p.Leu314=) c.768G>C (p.Leu256=) c.*43G>C (n.*43G>C) c.565G>C (n.565G>C) | |
| 17 | g.81933313C>T | CA8845249 | PYCR1 | c.861G>A (p.Leu287=) c.942G>A (p.Leu314=) c.768G>A (p.Leu256=) c.*43G>A (n.*43G>A) c.565G>A (n.565G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933314A>C | CA401536617 | PYCR1 | c.860T>G (p.Leu287Arg) c.941T>G (p.Leu314Arg) c.767T>G (p.Leu256Arg) c.*42T>G (n.*42T>G) c.564T>G (n.564T>G) | gnomAD v4 |
| 17 | g.81933314A>G | CA401536616 | PYCR1 | c.860T>C (p.Leu287Pro) c.941T>C (p.Leu314Pro) c.767T>C (p.Leu256Pro) c.*42T>C (n.*42T>C) c.564T>C (n.564T>C) | |
| 17 | g.81933314A>T | CA401536615 | PYCR1 | c.860T>A (p.Leu287Gln) c.941T>A (p.Leu314Gln) c.767T>A (p.Leu256Gln) c.*42T>A (n.*42T>A) c.564T>A (n.564T>A) | |
| 17 | g.81933315G>A | CA502334269 | PYCR1 | c.859C>T (p.Leu287=) c.940C>T (p.Leu314=) c.766C>T (p.Leu256=) c.*41C>T (n.*41C>T) c.563C>T (n.563C>T) | |
| 17 | g.81933315G>C | CA401536619 | PYCR1 | c.859C>G (p.Leu287Val) c.940C>G (p.Leu314Val) c.766C>G (p.Leu256Val) c.*41C>G (n.*41C>G) c.563C>G (n.563C>G) | |
| 17 | g.81933315G>T | CA401536618 | PYCR1 | c.859C>A (p.Leu287Met) c.940C>A (p.Leu314Met) c.766C>A (p.Leu256Met) c.*41C>A (n.*41C>A) c.563C>A (n.563C>A) | ClinVar gnomAD v4 |
| 17 | g.81933316G>A | CA502334271 | PYCR1 | c.858C>T (p.Ile286=) c.939C>T (p.Ile313=) c.765C>T (p.Ile255=) c.*40C>T (n.*40C>T) c.562C>T (n.562C>T) | |
| 17 | g.81933316G>C | CA401536620 | PYCR1 | c.858C>G (p.Ile286Met) c.939C>G (p.Ile313Met) c.765C>G (p.Ile255Met) c.*40C>G (n.*40C>G) c.562C>G (n.562C>G) | |
| 17 | g.81933316G>T | CA502334272 | PYCR1 | c.858C>A (p.Ile286=) c.939C>A (p.Ile313=) c.765C>A (p.Ile255=) c.*40C>A (n.*40C>A) c.562C>A (n.562C>A) | |
| 17 | g.81933317A>C | CA401536621 | PYCR1 | c.857T>G (p.Ile286Ser) c.938T>G (p.Ile313Ser) c.764T>G (p.Ile255Ser) c.*39T>G (n.*39T>G) c.561T>G (n.561T>G) | |
| 17 | g.81933317A>G | CA401536622 | PYCR1 | c.857T>C (p.Ile286Thr) c.938T>C (p.Ile313Thr) c.764T>C (p.Ile255Thr) c.*39T>C (n.*39T>C) c.561T>C (n.561T>C) | ClinVar dbSNP |
| 17 | g.81933317A>T | CA401536623 | PYCR1 | c.857T>A (p.Ile286Asn) c.938T>A (p.Ile313Asn) c.764T>A (p.Ile255Asn) c.*39T>A (n.*39T>A) c.561T>A (n.561T>A) | |
| 17 | g.81933318T>A | CA401536624 | PYCR1 | c.856A>T (p.Ile286Phe) c.937A>T (p.Ile313Phe) c.763A>T (p.Ile255Phe) c.*38A>T (n.*38A>T) c.560A>T (n.560A>T) | |
| 17 | g.81933318T>C | CA401536625 | PYCR1 | c.856A>G (p.Ile286Val) c.937A>G (p.Ile313Val) c.763A>G (p.Ile255Val) c.*38A>G (n.*38A>G) c.560A>G (n.560A>G) | |
| 17 | g.81933318T>G | CA401536626 | PYCR1 | c.856A>C (p.Ile286Leu) c.937A>C (p.Ile313Leu) c.763A>C (p.Ile255Leu) c.*38A>C (n.*38A>C) c.560A>C (n.560A>C) | |
| 17 | g.81933319G>A | CA502334280 | PYCR1 | c.855C>T (p.Thr285=) c.936C>T (p.Thr312=) c.762C>T (p.Thr254=) c.*37C>T (n.*37C>T) c.559C>T (n.559C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81933319G>C | CA502334277 | PYCR1 | c.855C>G (p.Thr285=) c.936C>G (p.Thr312=) c.762C>G (p.Thr254=) c.*37C>G (n.*37C>G) c.559C>G (n.559C>G) | |
| 17 | g.81933319G= | CA2278748921 | PYCR1 | c.855C= (p.Thr285=) c.936C= (p.Thr312=) c.762C= (p.Thr254=) c.*37C= (n.*37C=) c.559C= (n.559C=) | |
| 17 | g.81933319G>T | CA502334278 | PYCR1 | c.855C>A (p.Thr285=) c.936C>A (p.Thr312=) c.762C>A (p.Thr254=) c.*37C>A (n.*37C>A) c.559C>A (n.559C>A) | |
| 17 | g.81933320G>A | CA8845251 | PYCR1 | c.854C>T (p.Thr285Ile) c.935C>T (p.Thr312Ile) c.761C>T (p.Thr254Ile) c.*36C>T (n.*36C>T) c.558C>T (n.558C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933320G>C | CA401536627 | PYCR1 | c.854C>G (p.Thr285Ser) c.935C>G (p.Thr312Ser) c.761C>G (p.Thr254Ser) c.*36C>G (n.*36C>G) c.558C>G (n.558C>G) | gnomAD v4 |
| 17 | g.81933320G= | CA2278748923 | PYCR1 | c.854C= (p.Thr285=) c.935C= (p.Thr312=) c.761C= (p.Thr254=) c.*36C= (n.*36C=) c.558C= (n.558C=) | |
| 17 | g.81933320G>T | CA401536628 | PYCR1 | c.854C>A (p.Thr285Asn) c.935C>A (p.Thr312Asn) c.761C>A (p.Thr254Asn) c.*36C>A (n.*36C>A) c.558C>A (n.558C>A) | |
| 17 | g.81933320_81933323delinsGTCT | CA2278748922 | PYCR1 | c.851_854delinsAGAC (p.Lys284=) c.932_935delinsAGAC (p.Lys311=) c.758_761delinsAGAC (p.Lys253=) c.*33_*36delinsAGAC (n.*33_*36delinsAGAC) c.555_558delinsAGAC (n.555_558delinsAGAC) | |
| 17 | g.81933321T>A | CA401536629 | PYCR1 | c.853A>T (p.Thr285Ser) c.934A>T (p.Thr312Ser) c.760A>T (p.Thr254Ser) c.*35A>T (n.*35A>T) c.557A>T (n.557A>T) | |
| 17 | g.81933321T>C | CA401536630 | PYCR1 | c.853A>G (p.Thr285Ala) c.934A>G (p.Thr312Ala) c.760A>G (p.Thr254Ala) c.*35A>G (n.*35A>G) c.557A>G (n.557A>G) | |
| 17 | g.81933321T>G | CA401536631 | PYCR1 | c.853A>C (p.Thr285Pro) c.934A>C (p.Thr312Pro) c.760A>C (p.Thr254Pro) c.*35A>C (n.*35A>C) c.557A>C (n.557A>C) | |
| 17 | g.81933325_81933327del | CA8845250 | PYCR1 | c.851_853del (p.Lys284del) c.932_934del (p.Lys311del) c.758_760del (p.Lys253del) c.*33_*35del (n.*33_*35del) c.555_557del (n.555_557del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933322C>A | CA401536632 | PYCR1 | c.852G>T (p.Lys284Asn) c.933G>T (p.Lys311Asn) c.759G>T (p.Lys253Asn) c.*34G>T (n.*34G>T) c.556G>T (n.556G>T) | |
| 17 | g.81933322C>G | CA401536633 | PYCR1 | c.852G>C (p.Lys284Asn) c.933G>C (p.Lys311Asn) c.759G>C (p.Lys253Asn) c.*34G>C (n.*34G>C) c.556G>C (n.556G>C) | |
| 17 | g.81933322C>T | CA502334300 | PYCR1 | c.852G>A (p.Lys284=) c.933G>A (p.Lys311=) c.759G>A (p.Lys253=) c.*34G>A (n.*34G>A) c.556G>A (n.556G>A) | |
| 17 | g.81933323T>A | CA401536634 | PYCR1 | c.851A>T (p.Lys284Met) c.932A>T (p.Lys311Met) c.758A>T (p.Lys253Met) c.*33A>T (n.*33A>T) c.555A>T (n.555A>T) | |
| 17 | g.81933323T>C | CA401536635 | PYCR1 | c.851A>G (p.Lys284Arg) c.932A>G (p.Lys311Arg) c.758A>G (p.Lys253Arg) c.*33A>G (n.*33A>G) c.555A>G (n.555A>G) | |
| 17 | g.81933323T>G | CA401536636 | PYCR1 | c.851A>C (p.Lys284Thr) c.932A>C (p.Lys311Thr) c.758A>C (p.Lys253Thr) c.*33A>C (n.*33A>C) c.555A>C (n.555A>C) | gnomAD v4 |
| 17 | g.81933324T>A | CA401536637 | PYCR1 | c.850A>T (p.Lys284Ter) c.931A>T (p.Lys311Ter) c.757A>T (p.Lys253Ter) c.*32A>T (n.*32A>T) c.554A>T (n.554A>T) | |
| 17 | g.81933324T>C | CA401536638 | PYCR1 | c.850A>G (p.Lys284Glu) c.931A>G (p.Lys311Glu) c.757A>G (p.Lys253Glu) c.*32A>G (n.*32A>G) c.554A>G (n.554A>G) | |
| 17 | g.81933324T>G | CA401536639 | PYCR1 | c.850A>C (p.Lys284Gln) c.931A>C (p.Lys311Gln) c.757A>C (p.Lys253Gln) c.*32A>C (n.*32A>C) c.554A>C (n.554A>C) | |
| 17 | g.81933325C>A | CA401536640 | PYCR1 | c.849G>T (p.Lys283Asn) c.930G>T (p.Lys310Asn) c.756G>T (p.Lys252Asn) c.*31G>T (n.*31G>T) c.553G>T (n.553G>T) | |
| 17 | g.81933325C= | CA2278748924 | PYCR1 | c.849G= (p.Lys283=) c.930G= (p.Lys310=) c.756G= (p.Lys252=) c.*31G= (n.*31G=) c.553G= (n.553G=) | |
| 17 | g.81933325C>G | CA401536641 | PYCR1 | c.849G>C (p.Lys283Asn) c.930G>C (p.Lys310Asn) c.756G>C (p.Lys252Asn) c.*31G>C (n.*31G>C) c.553G>C (n.553G>C) | |
| 17 | g.81933325C>T | CA502334313 | PYCR1 | c.849G>A (p.Lys283=) c.930G>A (p.Lys310=) c.756G>A (p.Lys252=) c.*31G>A (n.*31G>A) c.553G>A (n.553G>A) | dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.81933326T>A | CA401536642 | PYCR1 | c.848A>T (p.Lys283Met) c.929A>T (p.Lys310Met) c.755A>T (p.Lys252Met) c.*30A>T (n.*30A>T) c.552A>T (n.552A>T) | |
| 17 | g.81933326T>C | CA401536643 | PYCR1 | c.848A>G (p.Lys283Arg) c.929A>G (p.Lys310Arg) c.755A>G (p.Lys252Arg) c.*30A>G (n.*30A>G) c.552A>G (n.552A>G) | dbSNP |
| 17 | g.81933326T>G | CA401536644 | PYCR1 | c.848A>C (p.Lys283Thr) c.929A>C (p.Lys310Thr) c.755A>C (p.Lys252Thr) c.*30A>C (n.*30A>C) c.552A>C (n.552A>C) | |
| 17 | g.81933327T>A | CA401536646 | PYCR1 | c.847A>T (p.Lys283Ter) c.928A>T (p.Lys310Ter) c.754A>T (p.Lys252Ter) c.*29A>T (n.*29A>T) c.551A>T (n.551A>T) | |
| 17 | g.81933327T>C | CA401536647 | PYCR1 | c.847A>G (p.Lys283Glu) c.928A>G (p.Lys310Glu) c.754A>G (p.Lys252Glu) c.*29A>G (n.*29A>G) c.551A>G (n.551A>G) | |
| 17 | g.81933327T>G | CA401536645 | PYCR1 | c.847A>C (p.Lys283Gln) c.928A>C (p.Lys310Gln) c.754A>C (p.Lys252Gln) c.*29A>C (n.*29A>C) c.551A>C (n.551A>C) | |
| 17 | g.81933328G>A | CA502334321 | PYCR1 | c.846C>T (p.Ile282=) c.927C>T (p.Ile309=) c.753C>T (p.Ile251=) c.*28C>T (n.*28C>T) c.550C>T (n.550C>T) | |
| 17 | g.81933328G>C | CA401536648 | PYCR1 | c.846C>G (p.Ile282Met) c.927C>G (p.Ile309Met) c.753C>G (p.Ile251Met) c.*28C>G (n.*28C>G) c.550C>G (n.550C>G) | |
| 17 | g.81933328G>T | CA502334324 | PYCR1 | c.846C>A (p.Ile282=) c.927C>A (p.Ile309=) c.753C>A (p.Ile251=) c.*28C>A (n.*28C>A) c.550C>A (n.550C>A) | |
| 17 | g.81933329A>C | CA401536649 | PYCR1 | c.845T>G (p.Ile282Ser) c.926T>G (p.Ile309Ser) c.752T>G (p.Ile251Ser) c.*27T>G (n.*27T>G) c.549T>G (n.549T>G) | |
| 17 | g.81933329A>G | CA401536650 | PYCR1 | c.845T>C (p.Ile282Thr) c.926T>C (p.Ile309Thr) c.752T>C (p.Ile251Thr) c.*27T>C (n.*27T>C) c.549T>C (n.549T>C) | |
| 17 | g.81933329A>T | CA401536651 | PYCR1 | c.845T>A (p.Ile282Asn) c.926T>A (p.Ile309Asn) c.752T>A (p.Ile251Asn) c.*27T>A (n.*27T>A) c.549T>A (n.549T>A) | |
| 17 | g.81933330T>A | CA401536652 | PYCR1 | c.844A>T (p.Ile282Phe) c.925A>T (p.Ile309Phe) c.751A>T (p.Ile251Phe) c.*26A>T (n.*26A>T) c.548A>T (n.548A>T) | |
| 17 | g.81933330T>C | CA401536653 | PYCR1 | c.844A>G (p.Ile282Val) c.925A>G (p.Ile309Val) c.751A>G (p.Ile251Val) c.*26A>G (n.*26A>G) c.548A>G (n.548A>G) | gnomAD v4 |
| 17 | g.81933330T>G | CA401536654 | PYCR1 | c.844A>C (p.Ile282Leu) c.925A>C (p.Ile309Leu) c.751A>C (p.Ile251Leu) c.*26A>C (n.*26A>C) c.548A>C (n.548A>C) | |
| 17 | g.81933331G>A | CA502334328 | PYCR1 | c.843C>T (p.Ala281=) c.924C>T (p.Ala308=) c.750C>T (p.Ala250=) c.*25C>T (n.*25C>T) c.547C>T (n.547C>T) | |
| 17 | g.81933331G>C | CA502334329 | PYCR1 | c.843C>G (p.Ala281=) c.924C>G (p.Ala308=) c.750C>G (p.Ala250=) c.*25C>G (n.*25C>G) c.547C>G (n.547C>G) | |
| 17 | g.81933331G>T | CA502334331 | PYCR1 | c.843C>A (p.Ala281=) c.924C>A (p.Ala308=) c.750C>A (p.Ala250=) c.*25C>A (n.*25C>A) c.547C>A (n.547C>A) | |
| 17 | g.81933332G>A | CA401536655 | PYCR1 | c.842C>T (p.Ala281Val) c.923C>T (p.Ala308Val) c.749C>T (p.Ala250Val) c.*24C>T (n.*24C>T) c.546C>T (n.546C>T) | |
| 17 | g.81933332G>C | CA401536657 | PYCR1 | c.842C>G (p.Ala281Gly) c.923C>G (p.Ala308Gly) c.749C>G (p.Ala250Gly) c.*24C>G (n.*24C>G) c.546C>G (n.546C>G) | |
| 17 | g.81933332G>T | CA401536656 | PYCR1 | c.842C>A (p.Ala281Asp) c.923C>A (p.Ala308Asp) c.749C>A (p.Ala250Asp) c.*24C>A (n.*24C>A) c.546C>A (n.546C>A) | |
| 17 | g.81933333C>A | CA401536658 | PYCR1 | c.841G>T (p.Ala281Ser) c.922G>T (p.Ala308Ser) c.748G>T (p.Ala250Ser) c.*23G>T (n.*23G>T) c.545G>T (n.545G>T) | |
| 17 | g.81933333C= | CA2278748925 | PYCR1 | c.841G= (p.Ala281=) c.922G= (p.Ala308=) c.748G= (p.Ala250=) c.*23G= (n.*23G=) c.545G= (n.545G=) | |
| 17 | g.81933333C>G | CA401536659 | PYCR1 | c.841G>C (p.Ala281Pro) c.922G>C (p.Ala308Pro) c.748G>C (p.Ala250Pro) c.*23G>C (n.*23G>C) c.545G>C (n.545G>C) | |
| 17 | g.81933333C>T | CA295134481 | PYCR1 | c.841G>A (p.Ala281Thr) c.922G>A (p.Ala308Thr) c.748G>A (p.Ala250Thr) c.*23G>A (n.*23G>A) c.545G>A (n.545G>A) | dbSNP gnomAD v4 |
| 17 | g.81933334G>A | CA8845252 | PYCR1 | c.840C>T (p.Ala280=) c.921C>T (p.Ala307=) c.747C>T (p.Ala249=) c.*22C>T (n.*22C>T) c.544C>T (n.544C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933334G>C | CA502334343 | PYCR1 | c.840C>G (p.Ala280=) c.921C>G (p.Ala307=) c.747C>G (p.Ala249=) c.*22C>G (n.*22C>G) c.544C>G (n.544C>G) | |
| 17 | g.81933334G= | CA2278748926 | PYCR1 | c.840C= (p.Ala280=) c.921C= (p.Ala307=) c.747C= (p.Ala249=) c.*22C= (n.*22C=) c.544C= (n.544C=) | |
| 17 | g.81933334G>T | CA502334345 | PYCR1 | c.840C>A (p.Ala280=) c.921C>A (p.Ala307=) c.747C>A (p.Ala249=) c.*22C>A (n.*22C>A) c.544C>A (n.544C>A) | gnomAD v4 |
| 17 | g.81933335G>A | CA8845253 | PYCR1 | c.839C>T (p.Ala280Val) c.920C>T (p.Ala307Val) c.746C>T (p.Ala249Val) c.*21C>T (n.*21C>T) c.543C>T (n.543C>T) | dbSNP ExAC gnomAD v2 |
| 17 | g.81933335G>C | CA401536661 | PYCR1 | c.839C>G (p.Ala280Gly) c.920C>G (p.Ala307Gly) c.746C>G (p.Ala249Gly) c.*21C>G (n.*21C>G) c.543C>G (n.543C>G) | |
| 17 | g.81933335G= | CA2278748927 | PYCR1 | c.839C= (p.Ala280=) c.920C= (p.Ala307=) c.746C= (p.Ala249=) c.*21C= (n.*21C=) c.543C= (n.543C=) | |
| 17 | g.81933335G>T | CA401536660 | PYCR1 | c.839C>A (p.Ala280Asp) c.920C>A (p.Ala307Asp) c.746C>A (p.Ala249Asp) c.*21C>A (n.*21C>A) c.543C>A (n.543C>A) | |
| 17 | g.81933336C>A | CA401536662 | PYCR1 | c.838G>T (p.Ala280Ser) c.919G>T (p.Ala307Ser) c.745G>T (p.Ala249Ser) c.*20G>T (n.*20G>T) c.542G>T (n.542G>T) | |
| 17 | g.81933336C= | CA2278748928 | PYCR1 | c.838G= (p.Ala280=) c.919G= (p.Ala307=) c.745G= (p.Ala249=) c.*20G= (n.*20G=) c.542G= (n.542G=) | |
| 17 | g.81933336C>G | CA8845254 | PYCR1 | c.838G>C (p.Ala280Pro) c.919G>C (p.Ala307Pro) c.745G>C (p.Ala249Pro) c.*20G>C (n.*20G>C) c.542G>C (n.542G>C) | dbSNP ExAC gnomAD v2 |
| 17 | g.81933336C>T | CA401536663 | PYCR1 | c.838G>A (p.Ala280Thr) c.919G>A (p.Ala307Thr) c.745G>A (p.Ala249Thr) c.*20G>A (n.*20G>A) c.542G>A (n.542G>A) | gnomAD v4 |
| 17 | g.81933337T>A | CA502334353 | PYCR1 | c.837A>T (p.Pro279=) c.918A>T (p.Pro306=) c.744A>T (p.Pro248=) c.*19A>T (n.*19A>T) c.541A>T (n.541A>T) | |
| 17 | g.81933337T>C | CA502334354 | PYCR1 | c.837A>G (p.Pro279=) c.918A>G (p.Pro306=) c.744A>G (p.Pro248=) c.*19A>G (n.*19A>G) c.541A>G (n.541A>G) | |
| 17 | g.81933337T>G | CA502334355 | PYCR1 | c.837A>C (p.Pro279=) c.918A>C (p.Pro306=) c.744A>C (p.Pro248=) c.*19A>C (n.*19A>C) c.541A>C (n.541A>C) | |
| 17 | g.81933338G>A | CA401536664 | PYCR1 | c.836C>T (p.Pro279Leu) c.917C>T (p.Pro306Leu) c.743C>T (p.Pro248Leu) c.*18C>T (n.*18C>T) c.540C>T (n.540C>T) | |
| 17 | g.81933338G>C | CA401536665 | PYCR1 | c.836C>G (p.Pro279Arg) c.917C>G (p.Pro306Arg) c.743C>G (p.Pro248Arg) c.*18C>G (n.*18C>G) c.540C>G (n.540C>G) | |
| 17 | g.81933338G>T | CA401536666 | PYCR1 | c.836C>A (p.Pro279Gln) c.917C>A (p.Pro306Gln) c.743C>A (p.Pro248Gln) c.*18C>A (n.*18C>A) c.540C>A (n.540C>A) | |
| 17 | g.81933339G>A | CA401536667 | PYCR1 | c.835C>T (p.Pro279Ser) c.916C>T (p.Pro306Ser) c.742C>T (p.Pro248Ser) c.*17C>T (n.*17C>T) c.539C>T (n.539C>T) | |
| 17 | g.81933339G>C | CA401536668 | PYCR1 | c.835C>G (p.Pro279Ala) c.916C>G (p.Pro306Ala) c.742C>G (p.Pro248Ala) c.*17C>G (n.*17C>G) c.539C>G (n.539C>G) | gnomAD v4 |
| 17 | g.81933339G>T | CA401536669 | PYCR1 | c.835C>A (p.Pro279Thr) c.916C>A (p.Pro306Thr) c.742C>A (p.Pro248Thr) c.*17C>A (n.*17C>A) c.539C>A (n.539C>A) | |
| 17 | g.81933340T>A | CA502334364 | PYCR1 | c.834A>T (p.Ser278=) c.915A>T (p.Ser305=) c.741A>T (p.Ser247=) c.*16A>T (n.*16A>T) c.538A>T (n.538A>T) | |
| 17 | g.81933340T>C | CA502334366 | PYCR1 | c.834A>G (p.Ser278=) c.915A>G (p.Ser305=) c.741A>G (p.Ser247=) c.*16A>G (n.*16A>G) c.538A>G (n.538A>G) | |
| 17 | g.81933340T>G | CA502334367 | PYCR1 | c.834A>C (p.Ser278=) c.915A>C (p.Ser305=) c.741A>C (p.Ser247=) c.*16A>C (n.*16A>C) c.538A>C (n.538A>C) | |
| 17 | g.81933341G>A | CA401536670 | PYCR1 | c.833C>T (p.Ser278Leu) c.914C>T (p.Ser305Leu) c.740C>T (p.Ser247Leu) c.*15C>T (n.*15C>T) c.537C>T (n.537C>T) | gnomAD v4 |
| 17 | g.81933341G>C | CA401536671 | PYCR1 | c.833C>G (p.Ser278Ter) c.914C>G (p.Ser305Ter) c.740C>G (p.Ser247Ter) c.*15C>G (n.*15C>G) c.537C>G (n.537C>G) | |
| 17 | g.81933341G>T | CA401536672 | PYCR1 | c.833C>A (p.Ser278Ter) c.914C>A (p.Ser305Ter) c.740C>A (p.Ser247Ter) c.*15C>A (n.*15C>A) c.537C>A (n.537C>A) | |
| 17 | g.81933342A>C | CA401536674 | PYCR1 | c.832T>G (p.Ser278Ala) c.913T>G (p.Ser305Ala) c.739T>G (p.Ser247Ala) c.*14T>G (n.*14T>G) c.536T>G (n.536T>G) | |
| 17 | g.81933342A>G | CA401536675 | PYCR1 | c.832T>C (p.Ser278Pro) c.913T>C (p.Ser305Pro) c.739T>C (p.Ser247Pro) c.*14T>C (n.*14T>C) c.536T>C (n.536T>C) | |
| 17 | g.81933342A>T | CA401536673 | PYCR1 | c.832T>A (p.Ser278Thr) c.913T>A (p.Ser305Thr) c.739T>A (p.Ser247Thr) c.*14T>A (n.*14T>A) c.536T>A (n.536T>A) | |
| 17 | g.81933343C>A | CA502334371 | PYCR1 | c.831G>T (p.Val277=) c.912G>T (p.Val304=) c.738G>T (p.Val246=) c.*13G>T (n.*13G>T) c.535G>T (n.535G>T) | |
| 17 | g.81933343C>G | CA502334373 | PYCR1 | c.831G>C (p.Val277=) c.912G>C (p.Val304=) c.738G>C (p.Val246=) c.*13G>C (n.*13G>C) c.535G>C (n.535G>C) | |
| 17 | g.81933343C>T | CA502334375 | PYCR1 | c.831G>A (p.Val277=) c.912G>A (p.Val304=) c.738G>A (p.Val246=) c.*13G>A (n.*13G>A) c.535G>A (n.535G>A) | gnomAD v4 |
| 17 | g.81933344A= | CA2278748930 | PYCR1 | c.830T= (p.Val277=) c.911T= (p.Val304=) c.737T= (p.Val246=) c.*12T= (n.*12T=) c.534T= (n.534T=) | |
| 17 | g.81933344A>C | CA401536676 | PYCR1 | c.830T>G (p.Val277Gly) c.911T>G (p.Val304Gly) c.737T>G (p.Val246Gly) c.*12T>G (n.*12T>G) c.534T>G (n.534T>G) | |
| 17 | g.81933344A>G | CA401536678 | PYCR1 | c.830T>C (p.Val277Ala) c.911T>C (p.Val304Ala) c.737T>C (p.Val246Ala) c.*12T>C (n.*12T>C) c.534T>C (n.534T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81933344A>T | CA401536677 | PYCR1 | c.830T>A (p.Val277Glu) c.911T>A (p.Val304Glu) c.737T>A (p.Val246Glu) c.*12T>A (n.*12T>A) c.534T>A (n.534T>A) | |
| 17 | g.81933344_81933345delinsAC | CA2278748929 | PYCR1 | c.829_830delinsGT (p.Val277=) c.910_911delinsGT (p.Val304=) c.736_737delinsGT (p.Val246=) c.*11_*12delinsGT (n.*11_*12delinsGT) c.533_534delinsGT (n.533_534delinsGT) | |
| 17 | g.81933345C>A | CA401536679 | PYCR1 | c.829G>T (p.Val277Leu) c.910G>T (p.Val304Leu) c.736G>T (p.Val246Leu) c.*11G>T (n.*11G>T) c.533G>T (n.533G>T) | |
| 17 | g.81933345C= | CA2278748931 | PYCR1 | c.829G= (p.Val277=) c.910G= (p.Val304=) c.736G= (p.Val246=) c.*11G= (n.*11G=) c.533G= (n.533G=) | |
| 17 | g.81933345C>G | CA401536680 | PYCR1 | c.829G>C (p.Val277Leu) c.910G>C (p.Val304Leu) c.736G>C (p.Val246Leu) c.*11G>C (n.*11G>C) c.533G>C (n.533G>C) | gnomAD v4 |
| 17 | g.81933345C>T | CA401536681 | PYCR1 | c.829G>A (p.Val277Met) c.910G>A (p.Val304Met) c.736G>A (p.Val246Met) c.*11G>A (n.*11G>A) c.533G>A (n.533G>A) | dbSNP |
| 17 | g.81933346del | CA8845255 | PYCR1 | c.829del (p.Val277CysfsTer14) c.829del (p.Val277CysfsTer18) c.910del (p.Val304CysfsTer14) c.736del (p.Val246CysfsTer14) c.*11del (n.*11del) c.533del (n.533del) | dbSNP ExAC |
| 17 | g.81933346C>A | CA401536682 | PYCR1 | c.828G>T (p.Gln276His) c.909G>T (p.Gln303His) c.735G>T (p.Gln245His) c.*10G>T (n.*10G>T) c.532G>T (n.532G>T) | |
| 17 | g.81933346C>G | CA401536683 | PYCR1 | c.828G>C (p.Gln276His) c.909G>C (p.Gln303His) c.735G>C (p.Gln245His) c.*10G>C (n.*10G>C) c.532G>C (n.532G>C) | |
| 17 | g.81933346C>T | CA502334388 | PYCR1 | c.828G>A (p.Gln276=) c.909G>A (p.Gln303=) c.735G>A (p.Gln245=) c.*10G>A (n.*10G>A) c.532G>A (n.532G>A) | |
| 17 | g.81933347T>A | CA401536684 | PYCR1 | c.827A>T (p.Gln276Leu) c.908A>T (p.Gln303Leu) c.734A>T (p.Gln245Leu) c.*9A>T (n.*9A>T) c.531A>T (n.531A>T) | gnomAD v4 |
| 17 | g.81933347T>C | CA401536685 | PYCR1 | c.827A>G (p.Gln276Arg) c.908A>G (p.Gln303Arg) c.734A>G (p.Gln245Arg) c.*9A>G (n.*9A>G) c.531A>G (n.531A>G) | |
| 17 | g.81933347T>G | CA401536686 | PYCR1 | c.827A>C (p.Gln276Pro) c.908A>C (p.Gln303Pro) c.734A>C (p.Gln245Pro) c.*9A>C (n.*9A>C) c.531A>C (n.531A>C) | gnomAD v4 |
| 17 | g.81933348G>A | CA401536687 | PYCR1 | c.826C>T (p.Gln276Ter) c.907C>T (p.Gln303Ter) c.733C>T (p.Gln245Ter) c.*8C>T (n.*8C>T) c.530C>T (n.530C>T) | |
| 17 | g.81933348G>C | CA401536688 | PYCR1 | c.826C>G (p.Gln276Glu) c.907C>G (p.Gln303Glu) c.733C>G (p.Gln245Glu) c.*8C>G (n.*8C>G) c.530C>G (n.530C>G) | |
| 17 | g.81933348G>T | CA401536689 | PYCR1 | c.826C>A (p.Gln276Lys) c.907C>A (p.Gln303Lys) c.733C>A (p.Gln245Lys) c.*8C>A (n.*8C>A) c.530C>A (n.530C>A) | |
| 17 | g.81933349C>A | CA401536691 | PYCR1 | c.825G>T (p.Glu275Asp) c.906G>T (p.Glu302Asp) c.732G>T (p.Glu244Asp) c.*7G>T (n.*7G>T) c.529G>T (n.529G>T) | |
| 17 | g.81933349C= | CA2278748932 | PYCR1 | c.825G= (p.Glu275=) c.906G= (p.Glu302=) c.732G= (p.Glu244=) c.*7G= (n.*7G=) c.529G= (n.529G=) | |
| 17 | g.81933349C>G | CA401536690 | PYCR1 | c.825G>C (p.Glu275Asp) c.906G>C (p.Glu302Asp) c.732G>C (p.Glu244Asp) c.*7G>C (n.*7G>C) c.529G>C (n.529G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933349C>T | CA8845256 | PYCR1 | c.825G>A (p.Glu275=) c.906G>A (p.Glu302=) c.732G>A (p.Glu244=) c.*7G>A (n.*7G>A) c.529G>A (n.529G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933350T>A | CA401536692 | PYCR1 | c.824A>T (p.Glu275Val) c.905A>T (p.Glu302Val) c.731A>T (p.Glu244Val) c.*6A>T (n.*6A>T) c.528A>T (n.528A>T) | |
| 17 | g.81933350T>C | CA401536693 | PYCR1 | c.824A>G (p.Glu275Gly) c.905A>G (p.Glu302Gly) c.731A>G (p.Glu244Gly) c.*6A>G (n.*6A>G) c.528A>G (n.528A>G) | |
| 17 | g.81933350T>G | CA401536694 | PYCR1 | c.824A>C (p.Glu275Ala) c.905A>C (p.Glu302Ala) c.731A>C (p.Glu244Ala) c.*6A>C (n.*6A>C) c.528A>C (n.528A>C) | |
| 17 | g.81933351C>A | CA401536695 | PYCR1 | c.823G>T (p.Glu275Ter) c.904G>T (p.Glu302Ter) c.730G>T (p.Glu244Ter) c.*5G>T (n.*5G>T) c.527G>T (n.527G>T) | |
| 17 | g.81933351C>G | CA401536696 | PYCR1 | c.823G>C (p.Glu275Gln) c.904G>C (p.Glu302Gln) c.730G>C (p.Glu244Gln) c.*5G>C (n.*5G>C) c.527G>C (n.527G>C) | gnomAD v4 |
| 17 | g.81933351C>T | CA401536697 | PYCR1 | c.823G>A (p.Glu275Lys) c.904G>A (p.Glu302Lys) c.730G>A (p.Glu244Lys) c.*5G>A (n.*5G>A) c.527G>A (n.527G>A) | |
| 17 | g.81933352C>A | CA401536698 | PYCR1 | c.822G>T (p.Gln274His) c.903G>T (p.Gln301His) c.729G>T (p.Gln243His) c.*4G>T (n.*4G>T) c.526G>T (n.526G>T) | |
| 17 | g.81933352C>G | CA401536699 | PYCR1 | c.822G>C (p.Gln274His) c.903G>C (p.Gln301His) c.729G>C (p.Gln243His) c.*4G>C (n.*4G>C) c.526G>C (n.526G>C) | |
| 17 | g.81933352C>T | CA502334409 | PYCR1 | c.822G>A (p.Gln274=) c.903G>A (p.Gln301=) c.729G>A (p.Gln243=) c.*4G>A (n.*4G>A) c.526G>A (n.526G>A) | |
| 17 | g.81933353T>A | CA401536700 | PYCR1 | c.821A>T (p.Gln274Leu) c.902A>T (p.Gln301Leu) c.728A>T (p.Gln243Leu) c.*3A>T (n.*3A>T) c.525A>T (n.525A>T) | |
| 17 | g.81933353T>C | CA8845257 | PYCR1 | c.821A>G (p.Gln274Arg) c.902A>G (p.Gln301Arg) c.728A>G (p.Gln243Arg) c.*3A>G (n.*3A>G) c.525A>G (n.525A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933353T>G | CA401536702 | PYCR1 | c.821A>C (p.Gln274Pro) c.902A>C (p.Gln301Pro) c.728A>C (p.Gln243Pro) c.*3A>C (n.*3A>C) c.525A>C (n.525A>C) | |
| 17 | g.81933353T= | CA2278748933 | PYCR1 | c.821A= (p.Gln274=) c.902A= (p.Gln301=) c.728A= (p.Gln243=) c.*3A= (n.*3A=) c.525A= (n.525A=) | |
| 17 | g.81933354G>A | CA8845259 | PYCR1 | c.820C>T (p.Gln274Ter) c.901C>T (p.Gln301Ter) c.727C>T (p.Gln243Ter) c.*2C>T (n.*2C>T) c.524C>T (n.524C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933354G>C | CA8845258 | PYCR1 | c.820C>G (p.Gln274Glu) c.901C>G (p.Gln301Glu) c.727C>G (p.Gln243Glu) c.*2C>G (n.*2C>G) c.524C>G (n.524C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933354G= | CA2278748934 | PYCR1 | c.820C= (p.Gln274=) c.901C= (p.Gln301=) c.727C= (p.Gln243=) c.*2C= (n.*2C=) c.524C= (n.524C=) | |
| 17 | g.81933354G>T | CA401536704 | PYCR1 | c.820C>A (p.Gln274Lys) c.901C>A (p.Gln301Lys) c.727C>A (p.Gln243Lys) c.*2C>A (n.*2C>A) c.524C>A (n.524C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933355G>A | CA502334422 | PYCR1 | c.819C>T (p.Asp273=) c.900C>T (p.Asp300=) c.726C>T (p.Asp242=) c.*1C>T (n.*1C>T) c.523C>T (n.523C>T) | |
| 17 | g.81933355G>C | CA401536709 | PYCR1 | c.819C>G (p.Asp273Glu) c.900C>G (p.Asp300Glu) c.726C>G (p.Asp242Glu) c.*1C>G (n.*1C>G) c.523C>G (n.523C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933355G= | CA2278748935 | PYCR1 | c.819C= (p.Asp273=) c.900C= (p.Asp300=) c.726C= (p.Asp242=) c.*1C= (n.*1C=) c.523C= (n.523C=) | |
| 17 | g.81933355G>T | CA401536707 | PYCR1 | c.819C>A (p.Asp273Glu) c.900C>A (p.Asp300Glu) c.726C>A (p.Asp242Glu) c.*1C>A (n.*1C>A) c.523C>A (n.523C>A) | |
| 17 | g.81933356T>A | CA401536711 | PYCR1 | c.818A>T (p.Asp273Val) c.899A>T (p.Asp300Val) c.725A>T (p.Asp242Val) c.654A>T (p.Ter218Cys) c.728A>T c.522A>T (p.Ter174Cys) c.735A>T (p.Ter245Cys) | |
| 17 | g.81933356T>C | CA401536712 | PYCR1 | c.818A>G (p.Asp273Gly) c.899A>G (p.Asp300Gly) c.725A>G (p.Asp242Gly) c.654A>G (p.Ter218Trp) c.728A>G c.522A>G (p.Ter174Trp) c.735A>G (p.Ter245Trp) | |
| 17 | g.81933356T>G | CA401536713 | PYCR1 | c.818A>C (p.Asp273Ala) c.899A>C (p.Asp300Ala) c.725A>C (p.Asp242Ala) c.654A>C (p.Ter218Cys) c.728A>C c.522A>C (p.Ter174Cys) c.735A>C (p.Ter245Cys) | |
| 17 | g.81933357C>A | CA401536714 | PYCR1 | c.817G>T (p.Asp273Tyr) c.898G>T (p.Asp300Tyr) c.724G>T (p.Asp242Tyr) c.653G>T (p.Ter218Leu) c.727G>T c.521G>T (p.Ter174Leu) c.734G>T (p.Ter245Leu) | |
| 17 | g.81933357C= | CA2278748936 | PYCR1 | c.817G= (p.Asp273=) c.898G= (p.Asp300=) c.724G= (p.Asp242=) c.653G= (p.Ter218=) c.727G= c.521G= (p.Ter174=) c.734G= (p.Ter245=) | |
| 17 | g.81933357C>G | CA401536715 | PYCR1 | c.817G>C (p.Asp273His) c.898G>C (p.Asp300His) c.724G>C (p.Asp242His) c.653G>C (p.Ter218Ser) c.727G>C c.521G>C (p.Ter174Ser) c.734G>C (p.Ter245Ser) | gnomAD v4 |
| 17 | g.81933357C>T | CA8845260 | PYCR1 | c.817G>A (p.Asp273Asn) c.898G>A (p.Asp300Asn) c.724G>A (p.Asp242Asn) c.653G>A (p.Ter218=) c.727G>A c.521G>A (p.Ter174=) c.734G>A (p.Ter245=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933358A>C | CA401536718 | PYCR1 | c.816T>G (p.Ala272=) c.897T>G (p.Ala299=) c.723T>G (p.Ala241=) c.652T>G (p.Ter218Gly) c.726T>G (p.Ala242=) c.520T>G (p.Ter174Gly) c.733T>G (p.Ter245Gly) | |
| 17 | g.81933358A>G | CA401536719 | PYCR1 | c.816T>C (p.Ala272=) c.897T>C (p.Ala299=) c.723T>C (p.Ala241=) c.652T>C (p.Ter218Arg) c.726T>C (p.Ala242=) c.520T>C (p.Ter174Arg) c.733T>C (p.Ter245Arg) | |
| 17 | g.81933358A>T | CA401536720 | PYCR1 | c.816T>A (p.Ala272=) c.897T>A (p.Ala299=) c.723T>A (p.Ala241=) c.652T>A (p.Ter218Arg) c.726T>A (p.Ala242=) c.520T>A (p.Ter174Arg) c.733T>A (p.Ter245Arg) | |
| 17 | g.81933359G>A | CA401536722 | PYCR1 | c.815C>T (p.Ala272Val) c.896C>T (p.Ala299Val) c.722C>T (p.Ala241Val) c.651C>T (p.Gly217=) c.725C>T (p.Ala242Val) c.519C>T (p.Gly173=) c.732C>T (p.Gly244=) | |
| 17 | g.81933359G>C | CA401536724 | PYCR1 | c.815C>G (p.Ala272Gly) c.896C>G (p.Ala299Gly) c.722C>G (p.Ala241Gly) c.651C>G (p.Gly217=) c.725C>G (p.Ala242Gly) c.519C>G (p.Gly173=) c.732C>G (p.Gly244=) | |
| 17 | g.81933359G>T | CA401536725 | PYCR1 | c.815C>A (p.Ala272Asp) c.896C>A (p.Ala299Asp) c.722C>A (p.Ala241Asp) c.651C>A (p.Gly217=) c.725C>A (p.Ala242Asp) c.519C>A (p.Gly173=) c.732C>A (p.Gly244=) | |
| 17 | g.81933360C>A | CA401536730 | PYCR1 | c.814G>T (p.Ala272Ser) c.895G>T (p.Ala299Ser) c.721G>T (p.Ala241Ser) c.650G>T (p.Gly217Val) c.724G>T (p.Ala242Ser) c.518G>T (p.Gly173Val) c.731G>T (p.Gly244Val) | |
| 17 | g.81933360C>G | CA401536727 | PYCR1 | c.814G>C (p.Ala272Pro) c.895G>C (p.Ala299Pro) c.721G>C (p.Ala241Pro) c.650G>C (p.Gly217Ala) c.724G>C (p.Ala242Pro) c.518G>C (p.Gly173Ala) c.731G>C (p.Gly244Ala) | |
| 17 | g.81933360C>T | CA401536728 | PYCR1 | c.814G>A (p.Ala272Thr) c.895G>A (p.Ala299Thr) c.721G>A (p.Ala241Thr) c.650G>A (p.Gly217Asp) c.724G>A (p.Ala242Thr) c.518G>A (p.Gly173Asp) c.731G>A (p.Gly244Asp) | |
| 17 | g.81933361C>A | CA401536732 | PYCR1 | c.813G>T (p.Met271Ile) c.894G>T (p.Met298Ile) c.720G>T (p.Met240Ile) c.649G>T (p.Gly217Cys) c.723G>T (p.Met241Ile) c.517G>T (p.Gly173Cys) c.730G>T (p.Gly244Cys) | |
| 17 | g.81933361C>G | CA401536733 | PYCR1 | c.813G>C (p.Met271Ile) c.894G>C (p.Met298Ile) c.720G>C (p.Met240Ile) c.649G>C (p.Gly217Arg) c.723G>C (p.Met241Ile) c.517G>C (p.Gly173Arg) c.730G>C (p.Gly244Arg) | |
| 17 | g.81933361C>T | CA401536734 | PYCR1 | c.813G>A (p.Met271Ile) c.894G>A (p.Met298Ile) c.720G>A (p.Met240Ile) c.649G>A (p.Gly217Ser) c.723G>A (p.Met241Ile) c.517G>A (p.Gly173Ser) c.730G>A (p.Gly244Ser) | |
| 17 | g.81933362A= | CA2278748937 | PYCR1 | c.812T= (p.Met271=) c.893T= (p.Met298=) c.719T= (p.Met240=) c.648T= (p.His216=) c.722T= (p.Met241=) c.516T= (p.His172=) c.729T= (p.His243=) | |
| 17 | g.81933362A>C | CA401536735 | PYCR1 | c.812T>G (p.Met271Arg) c.893T>G (p.Met298Arg) c.719T>G (p.Met240Arg) c.648T>G (p.His216Gln) c.722T>G (p.Met241Arg) c.516T>G (p.His172Gln) c.729T>G (p.His243Gln) | |
| 17 | g.81933362A>G | CA401536736 | PYCR1 | c.812T>C (p.Met271Thr) c.893T>C (p.Met298Thr) c.719T>C (p.Met240Thr) c.648T>C (p.His216=) c.722T>C (p.Met241Thr) c.516T>C (p.His172=) c.729T>C (p.His243=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933362A>T | CA401536738 | PYCR1 | c.812T>A (p.Met271Lys) c.893T>A (p.Met298Lys) c.719T>A (p.Met240Lys) c.648T>A (p.His216Gln) c.722T>A (p.Met241Lys) c.516T>A (p.His172Gln) c.729T>A (p.His243Gln) | |
| 17 | g.81933363T>A | CA401536740 | PYCR1 | c.811A>T (p.Met271Leu) c.892A>T (p.Met298Leu) c.718A>T (p.Met240Leu) c.647A>T (p.His216Leu) c.721A>T (p.Met241Leu) c.515A>T (p.His172Leu) c.728A>T (p.His243Leu) | |
| 17 | g.81933363T>C | CA401536742 | PYCR1 | c.811A>G (p.Met271Val) c.892A>G (p.Met298Val) c.718A>G (p.Met240Val) c.647A>G (p.His216Arg) c.721A>G (p.Met241Val) c.515A>G (p.His172Arg) c.728A>G (p.His243Arg) | gnomAD v4 |
| 17 | g.81933363T>G | CA401536743 | PYCR1 | c.811A>C (p.Met271Leu) c.892A>C (p.Met298Leu) c.718A>C (p.Met240Leu) c.647A>C (p.His216Pro) c.721A>C (p.Met241Leu) c.515A>C (p.His172Pro) c.728A>C (p.His243Pro) | |
| 17 | g.81933364G>A | CA401536744 | PYCR1 | c.810C>T (p.Ser270=) c.891C>T (p.Ser297=) c.717C>T (p.Ser239=) c.646C>T (p.His216Tyr) c.720C>T (p.Ser240=) c.514C>T (p.His172Tyr) c.727C>T (p.His243Tyr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.81933364G>C | CA401536746 | PYCR1 | c.810C>G (p.Ser270=) c.891C>G (p.Ser297=) c.717C>G (p.Ser239=) c.646C>G (p.His216Asp) c.720C>G (p.Ser240=) c.514C>G (p.His172Asp) c.727C>G (p.His243Asp) | |
| 17 | g.81933364G= | CA2278748938 | PYCR1 | c.810C= (p.Ser270=) c.891C= (p.Ser297=) c.717C= (p.Ser239=) c.646C= (p.His216=) c.720C= (p.Ser240=) c.514C= (p.His172=) c.727C= (p.His243=) | |
| 17 | g.81933364G>T | CA401536748 | PYCR1 | c.810C>A (p.Ser270=) c.891C>A (p.Ser297=) c.717C>A (p.Ser239=) c.646C>A (p.His216Asn) c.720C>A (p.Ser240=) c.514C>A (p.His172Asn) c.727C>A (p.His243Asn) | |
| 17 | g.81933365G>A | CA401536750 | PYCR1 | c.809C>T (p.Ser270Phe) c.890C>T (p.Ser297Phe) c.716C>T (p.Ser239Phe) c.645C>T (p.Val215=) c.719C>T (p.Ser240Phe) c.513C>T (p.Val171=) c.726C>T (p.Val242=) | gnomAD v4 |
| 17 | g.81933365G>C | CA401536752 | PYCR1 | c.809C>G (p.Ser270Cys) c.890C>G (p.Ser297Cys) c.716C>G (p.Ser239Cys) c.645C>G (p.Val215=) c.719C>G (p.Ser240Cys) c.513C>G (p.Val171=) c.726C>G (p.Val242=) | |
| 17 | g.81933365G= | CA2278748939 | PYCR1 | c.809C= (p.Ser270=) c.890C= (p.Ser297=) c.716C= (p.Ser239=) c.645C= (p.Val215=) c.719C= (p.Ser240=) c.513C= (p.Val171=) c.726C= (p.Val242=) | |
| 17 | g.81933365G>T | CA401536749 | PYCR1 | c.809C>A (p.Ser270Tyr) c.890C>A (p.Ser297Tyr) c.716C>A (p.Ser239Tyr) c.645C>A (p.Val215=) c.719C>A (p.Ser240Tyr) c.513C>A (p.Val171=) c.726C>A (p.Val242=) | dbSNP |
| 17 | g.81933366A>C | CA401536754 | PYCR1 | c.808T>G (p.Ser270Ala) c.889T>G (p.Ser297Ala) c.715T>G (p.Ser239Ala) c.644T>G (p.Val215Gly) c.718T>G (p.Ser240Ala) c.512T>G (p.Val171Gly) c.725T>G (p.Val242Gly) | |
| 17 | g.81933366A>G | CA401536757 | PYCR1 | c.808T>C (p.Ser270Pro) c.889T>C (p.Ser297Pro) c.715T>C (p.Ser239Pro) c.644T>C (p.Val215Ala) c.718T>C (p.Ser240Pro) c.512T>C (p.Val171Ala) c.725T>C (p.Val242Ala) | |
| 17 | g.81933366A>T | CA401536756 | PYCR1 | c.808T>A (p.Ser270Thr) c.889T>A (p.Ser297Thr) c.715T>A (p.Ser239Thr) c.644T>A (p.Val215Asp) c.718T>A (p.Ser240Thr) c.512T>A (p.Val171Asp) c.725T>A (p.Val242Asp) | |
| 17 | g.81933366_81933367delinsAC | CA2278748940 | PYCR1 | c.807_808delinsGT (p.Gln269=) c.888_889delinsGT (p.Gln296=) c.714_715delinsGT (p.Gln238=) c.643_644delinsGT (p.Val215=) c.717_718delinsGT (p.Gln239=) c.511_512delinsGT (p.Val171=) c.724_725delinsGT (p.Val242=) | |
| 17 | g.81933367del | CA8845261 | PYCR1 | c.807del (p.Gln269HisfsTer22) c.807del (p.Gln269HisfsTer26) c.888del (p.Gln296HisfsTer22) c.714del (p.Gln238HisfsTer22) c.643del (p.Val215SerfsTer?) c.717del (p.Gln239HisfsTer?) c.511del (p.Val171SerfsTer?) c.724del (p.Val242SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933367C>A | CA401536759 | PYCR1 | c.807G>T (p.Gln269His) c.888G>T (p.Gln296His) c.714G>T (p.Gln238His) c.643G>T (p.Val215Phe) c.717G>T (p.Gln239His) c.511G>T (p.Val171Phe) c.724G>T (p.Val242Phe) | |
| 17 | g.81933367C>G | CA401536760 | PYCR1 | c.807G>C (p.Gln269His) c.888G>C (p.Gln296His) c.714G>C (p.Gln238His) c.643G>C (p.Val215Leu) c.717G>C (p.Gln239His) c.511G>C (p.Val171Leu) c.724G>C (p.Val242Leu) | |
| 17 | g.81933367C>T | CA401536762 | PYCR1 | c.807G>A (p.Gln269=) c.888G>A (p.Gln296=) c.714G>A (p.Gln238=) c.643G>A (p.Val215Ile) c.717G>A (p.Gln239=) c.511G>A (p.Val171Ile) c.724G>A (p.Val242Ile) | |
| 17 | g.81933368T>A | CA401536764 | PYCR1 | c.806A>T (p.Gln269Leu) c.887A>T (p.Gln296Leu) c.713A>T (p.Gln238Leu) c.642A>T (p.Ala214=) c.716A>T (p.Gln239Leu) c.510A>T (p.Ala170=) c.723A>T (p.Ala241=) | |
| 17 | g.81933368T>C | CA401536765 | PYCR1 | c.806A>G (p.Gln269Arg) c.887A>G (p.Gln296Arg) c.713A>G (p.Gln238Arg) c.642A>G (p.Ala214=) c.716A>G (p.Gln239Arg) c.510A>G (p.Ala170=) c.723A>G (p.Ala241=) | |
| 17 | g.81933368T>G | CA401536766 | PYCR1 | c.806A>C (p.Gln269Pro) c.887A>C (p.Gln296Pro) c.713A>C (p.Gln238Pro) c.642A>C (p.Ala214=) c.716A>C (p.Gln239Pro) c.510A>C (p.Ala170=) c.723A>C (p.Ala241=) | |
| 17 | g.81933369G>A | CA401536767 | PYCR1 | c.805C>T (p.Gln269Ter) c.886C>T (p.Gln296Ter) c.712C>T (p.Gln238Ter) c.641C>T (p.Ala214Val) c.715C>T (p.Gln239Ter) c.509C>T (p.Ala170Val) c.722C>T (p.Ala241Val) | |
| 17 | g.81933369G>C | CA401536769 | PYCR1 | c.805C>G (p.Gln269Glu) c.886C>G (p.Gln296Glu) c.712C>G (p.Gln238Glu) c.641C>G (p.Ala214Gly) c.715C>G (p.Gln239Glu) c.509C>G (p.Ala170Gly) c.722C>G (p.Ala241Gly) | |
| 17 | g.81933369G>T | CA401536770 | PYCR1 | c.805C>A (p.Gln269Lys) c.886C>A (p.Gln296Lys) c.712C>A (p.Gln238Lys) c.641C>A (p.Ala214Glu) c.715C>A (p.Gln239Lys) c.509C>A (p.Ala170Glu) c.722C>A (p.Ala241Glu) | |
| 17 | g.81933370C>A | CA401536771 | PYCR1 | c.804G>T (p.Leu268=) c.885G>T (p.Leu295=) c.711G>T (p.Leu237=) c.640G>T (p.Ala214Ser) c.714G>T (p.Leu238=) c.508G>T (p.Ala170Ser) c.721G>T (p.Ala241Ser) | |
| 17 | g.81933370C>G | CA401536772 | PYCR1 | c.804G>C (p.Leu268=) c.885G>C (p.Leu295=) c.711G>C (p.Leu237=) c.640G>C (p.Ala214Pro) c.714G>C (p.Leu238=) c.508G>C (p.Ala170Pro) c.721G>C (p.Ala241Pro) | |
| 17 | g.81933370C>T | CA401536773 | PYCR1 | c.804G>A (p.Leu268=) c.885G>A (p.Leu295=) c.711G>A (p.Leu237=) c.640G>A (p.Ala214Thr) c.714G>A (p.Leu238=) c.508G>A (p.Ala170Thr) c.721G>A (p.Ala241Thr) | gnomAD v4 |
| 17 | g.81933371A= | CA2278748941 | PYCR1 | c.803T= (p.Leu268=) c.884T= (p.Leu295=) c.710T= (p.Leu237=) c.639T= (p.Ala213=) c.713T= (p.Leu238=) c.507T= (p.Ala169=) c.720T= (p.Ala240=) | |
| 17 | g.81933371A>C | CA401536775 | PYCR1 | c.803T>G (p.Leu268Arg) c.884T>G (p.Leu295Arg) c.710T>G (p.Leu237Arg) c.639T>G (p.Ala213=) c.713T>G (p.Leu238Arg) c.507T>G (p.Ala169=) c.720T>G (p.Ala240=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933371A>G | CA401536777 | PYCR1 | c.803T>C (p.Leu268Pro) c.884T>C (p.Leu295Pro) c.710T>C (p.Leu237Pro) c.639T>C (p.Ala213=) c.713T>C (p.Leu238Pro) c.507T>C (p.Ala169=) c.720T>C (p.Ala240=) | |
| 17 | g.81933371A>T | CA401536776 | PYCR1 | c.803T>A (p.Leu268Gln) c.884T>A (p.Leu295Gln) c.710T>A (p.Leu237Gln) c.639T>A (p.Ala213=) c.713T>A (p.Leu238Gln) c.507T>A (p.Ala169=) c.720T>A (p.Ala240=) | |
| 17 | g.81933372G>A | CA295134498 | PYCR1 | c.802C>T (p.Leu268=) c.883C>T (p.Leu295=) c.709C>T (p.Leu237=) c.638C>T (p.Ala213Val) c.712C>T (p.Leu238=) c.506C>T (p.Ala169Val) c.719C>T (p.Ala240Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933372G>C | CA401536778 | PYCR1 | c.802C>G (p.Leu268Val) c.883C>G (p.Leu295Val) c.709C>G (p.Leu237Val) c.638C>G (p.Ala213Gly) c.712C>G (p.Leu238Val) c.506C>G (p.Ala169Gly) c.719C>G (p.Ala240Gly) | |
| 17 | g.81933372G= | CA2278748942 | PYCR1 | c.802C= (p.Leu268=) c.883C= (p.Leu295=) c.709C= (p.Leu237=) c.638C= (p.Ala213=) c.712C= (p.Leu238=) c.506C= (p.Ala169=) c.719C= (p.Ala240=) | |
| 17 | g.81933372G>T | CA401536780 | PYCR1 | c.802C>A (p.Leu268Met) c.883C>A (p.Leu295Met) c.709C>A (p.Leu237Met) c.638C>A (p.Ala213Asp) c.712C>A (p.Leu238Met) c.506C>A (p.Ala169Asp) c.719C>A (p.Ala240Asp) | |
| 17 | g.81933373C>A | CA401536781 | PYCR1 | c.801G>T (p.Glu267Asp) c.882G>T (p.Glu294Asp) c.708G>T (p.Glu236Asp) c.637G>T (p.Ala213Ser) c.711G>T (p.Glu237Asp) c.505G>T (p.Ala169Ser) c.718G>T (p.Ala240Ser) | |
| 17 | g.81933373C>G | CA401536783 | PYCR1 | c.801G>C (p.Glu267Asp) c.882G>C (p.Glu294Asp) c.708G>C (p.Glu236Asp) c.637G>C (p.Ala213Pro) c.711G>C (p.Glu237Asp) c.505G>C (p.Ala169Pro) c.718G>C (p.Ala240Pro) | |
| 17 | g.81933373C>T | CA401536784 | PYCR1 | c.801G>A (p.Glu267=) c.882G>A (p.Glu294=) c.708G>A (p.Glu236=) c.637G>A (p.Ala213Thr) c.711G>A (p.Glu237=) c.505G>A (p.Ala169Thr) c.718G>A (p.Ala240Thr) | |
| 17 | g.81933374T>A | CA295134499 | PYCR1 | c.800A>T (p.Glu267Val) c.881A>T (p.Glu294Val) c.707A>T (p.Glu236Val) c.636A>T (p.Gly212=) c.710A>T (p.Glu237Val) c.504A>T (p.Gly168=) c.717A>T (p.Gly239=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933374T>C | CA401536786 | PYCR1 | c.800A>G (p.Glu267Gly) c.881A>G (p.Glu294Gly) c.707A>G (p.Glu236Gly) c.636A>G (p.Gly212=) c.710A>G (p.Glu237Gly) c.504A>G (p.Gly168=) c.717A>G (p.Gly239=) | |
| 17 | g.81933374T>G | CA401536787 | PYCR1 | c.800A>C (p.Glu267Ala) c.881A>C (p.Glu294Ala) c.707A>C (p.Glu236Ala) c.636A>C (p.Gly212=) c.710A>C (p.Glu237Ala) c.504A>C (p.Gly168=) c.717A>C (p.Gly239=) | |
| 17 | g.81933374T= | CA2278748943 | PYCR1 | c.800A= (p.Glu267=) c.881A= (p.Glu294=) c.707A= (p.Glu236=) c.636A= (p.Gly212=) c.710A= (p.Glu237=) c.504A= (p.Gly168=) c.717A= (p.Gly239=) | |
| 17 | g.81933375C>A | CA401536791 | PYCR1 | c.799G>T (p.Glu267Ter) c.880G>T (p.Glu294Ter) c.706G>T (p.Glu236Ter) c.635G>T (p.Gly212Val) c.709G>T (p.Glu237Ter) c.503G>T (p.Gly168Val) c.716G>T (p.Gly239Val) | |
| 17 | g.81933375C>G | CA401536789 | PYCR1 | c.799G>C (p.Glu267Gln) c.880G>C (p.Glu294Gln) c.706G>C (p.Glu236Gln) c.635G>C (p.Gly212Ala) c.709G>C (p.Glu237Gln) c.503G>C (p.Gly168Ala) c.716G>C (p.Gly239Ala) | |
| 17 | g.81933375C>T | CA401536788 | PYCR1 | c.799G>A (p.Glu267Lys) c.880G>A (p.Glu294Lys) c.706G>A (p.Glu236Lys) c.635G>A (p.Gly212Glu) c.709G>A (p.Glu237Lys) c.503G>A (p.Gly168Glu) c.716G>A (p.Gly239Glu) | |
| 17 | g.81933376C>A | CA401536792 | PYCR1 | c.798G>T (p.Arg266=) c.879G>T (p.Arg293=) c.705G>T (p.Arg235=) c.634G>T (p.Gly212Ter) c.708G>T (p.Arg236=) c.502G>T (p.Gly168Ter) c.715G>T (p.Gly239Ter) | |
| 17 | g.81933376C= | CA2278748944 | PYCR1 | c.798G= (p.Arg266=) c.879G= (p.Arg293=) c.705G= (p.Arg235=) c.634G= (p.Gly212=) c.708G= (p.Arg236=) c.502G= (p.Gly168=) c.715G= (p.Gly239=) | |
| 17 | g.81933376C>G | CA401536793 | PYCR1 | c.798G>C (p.Arg266=) c.879G>C (p.Arg293=) c.705G>C (p.Arg235=) c.634G>C (p.Gly212Arg) c.708G>C (p.Arg236=) c.502G>C (p.Gly168Arg) c.715G>C (p.Gly239Arg) | |
| 17 | g.81933376C>T | CA401536794 | PYCR1 | c.798G>A (p.Arg266=) c.879G>A (p.Arg293=) c.705G>A (p.Arg235=) c.634G>A (p.Gly212Arg) c.708G>A (p.Arg236=) c.502G>A (p.Gly168Arg) c.715G>A (p.Gly239Arg) | ClinVar dbSNP |
| 17 | g.81933377C>A | CA401536796 | PYCR1 | c.798-1G>T (n.798-1G>T) c.879-1G>T (n.879-1G>T) c.705-1G>T (n.705-1G>T) c.634-1G>T (n.634-1G>T) c.708-1G>T (n.708-1G>T) c.502-1G>T (n.502-1G>T) c.715-1G>T (n.715-1G>T) | |
| 17 | g.81933377C= | CA2278748945 | PYCR1 | c.798-1G= (n.798-1G=) c.879-1G= (n.879-1G=) c.705-1G= (n.705-1G=) c.634-1G= (n.634-1G=) c.708-1G= (n.708-1G=) c.502-1G= (n.502-1G=) c.715-1G= (n.715-1G=) | |
| 17 | g.81933377C>G | CA401536797 | PYCR1 | c.798-1G>C (n.798-1G>C) c.879-1G>C (n.879-1G>C) c.705-1G>C (n.705-1G>C) c.634-1G>C (n.634-1G>C) c.708-1G>C (n.708-1G>C) c.502-1G>C (n.502-1G>C) c.715-1G>C (n.715-1G>C) | |
| 17 | g.81933377C>T | CA16607536 | PYCR1 | c.798-1G>A (n.798-1G>A) c.879-1G>A (n.879-1G>A) c.705-1G>A (n.705-1G>A) c.634-1G>A (n.634-1G>A) c.708-1G>A (n.708-1G>A) c.502-1G>A (n.502-1G>A) c.715-1G>A (n.715-1G>A) | ClinVar dbSNP |
| 17 | g.81933378T>A | CA401536799 | PYCR1 | c.798-2A>T (n.798-2A>T) c.879-2A>T (n.879-2A>T) c.705-2A>T (n.705-2A>T) c.634-2A>T (n.634-2A>T) c.708-2A>T (n.708-2A>T) c.502-2A>T (n.502-2A>T) c.715-2A>T (n.715-2A>T) | |
| 17 | g.81933378T>C | CA401536800 | PYCR1 | c.798-2A>G (n.798-2A>G) c.879-2A>G (n.879-2A>G) c.705-2A>G (n.705-2A>G) c.634-2A>G (n.634-2A>G) c.708-2A>G (n.708-2A>G) c.502-2A>G (n.502-2A>G) c.715-2A>G (n.715-2A>G) | |
| 17 | g.81933378T>G | CA401536801 | PYCR1 | c.798-2A>C (n.798-2A>C) c.879-2A>C (n.879-2A>C) c.705-2A>C (n.705-2A>C) c.634-2A>C (n.634-2A>C) c.708-2A>C (n.708-2A>C) c.502-2A>C (n.502-2A>C) c.715-2A>C (n.715-2A>C) | |
| 17 | g.81933383_81933384del | CA2576428586 | PYCR1 | c.798-4_798-3del (n.798-4_798-3del) c.879-4_879-3del (n.879-4_879-3del) c.705-4_705-3del (n.705-4_705-3del) c.634-4_634-3del (n.634-4_634-3del) c.708-4_708-3del (n.708-4_708-3del) c.502-4_502-3del (n.502-4_502-3del) c.715-4_715-3del (n.715-4_715-3del) | |
| 17 | g.81933380G>A | CA628025202 | PYCR1 | c.798-4C>T (n.798-4C>T) c.879-4C>T (n.879-4C>T) c.705-4C>T (n.705-4C>T) c.634-4C>T (n.634-4C>T) c.708-4C>T (n.708-4C>T) c.502-4C>T (n.502-4C>T) c.715-4C>T (n.715-4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933380G= | CA2278748946 | PYCR1 | c.798-4C= (n.798-4C=) c.879-4C= (n.879-4C=) c.705-4C= (n.705-4C=) c.634-4C= (n.634-4C=) c.708-4C= (n.708-4C=) c.502-4C= (n.502-4C=) c.715-4C= (n.715-4C=) | |
| 17 | g.81933382G>A | CA8845262 | PYCR1 | c.798-6C>T (n.798-6C>T) c.879-6C>T (n.879-6C>T) c.705-6C>T (n.705-6C>T) c.634-6C>T (n.634-6C>T) c.708-6C>T (n.708-6C>T) c.502-6C>T (n.502-6C>T) c.715-6C>T (n.715-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933382G= | CA2278748947 | PYCR1 | c.798-6C= (n.798-6C=) c.879-6C= (n.879-6C=) c.705-6C= (n.705-6C=) c.634-6C= (n.634-6C=) c.708-6C= (n.708-6C=) c.502-6C= (n.502-6C=) c.715-6C= (n.715-6C=) | |
| 17 | g.81933383A= | CA2278748948 | PYCR1 | c.798-7T= (n.798-7T=) c.879-7T= (n.879-7T=) c.705-7T= (n.705-7T=) c.634-7T= (n.634-7T=) c.708-7T= (n.708-7T=) c.502-7T= (n.502-7T=) c.715-7T= (n.715-7T=) | |
| 17 | g.81933383A>G | CA8845263 | PYCR1 | c.798-7T>C (n.798-7T>C) c.879-7T>C (n.879-7T>C) c.705-7T>C (n.705-7T>C) c.634-7T>C (n.634-7T>C) c.708-7T>C (n.708-7T>C) c.502-7T>C (n.502-7T>C) c.715-7T>C (n.715-7T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.81933384G>A | CA8845264 | PYCR1 | c.798-8C>T (n.798-8C>T) c.879-8C>T (n.879-8C>T) c.705-8C>T (n.705-8C>T) c.634-8C>T (n.634-8C>T) c.708-8C>T (n.708-8C>T) c.502-8C>T (n.502-8C>T) c.715-8C>T (n.715-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933384G= | CA2278748949 | PYCR1 | c.798-8C= (n.798-8C=) c.879-8C= (n.879-8C=) c.705-8C= (n.705-8C=) c.634-8C= (n.634-8C=) c.708-8C= (n.708-8C=) c.502-8C= (n.502-8C=) c.715-8C= (n.715-8C=) | |
| 17 | g.81933385G>A | CA645599679 | PYCR1 | c.798-9C>T (n.798-9C>T) c.879-9C>T (n.879-9C>T) c.705-9C>T (n.705-9C>T) c.634-9C>T (n.634-9C>T) c.708-9C>T (n.708-9C>T) c.502-9C>T (n.502-9C>T) c.715-9C>T (n.715-9C>T) | gnomAD v4 COSMIC COSMIC |
| 17 | g.81933386C= | CA2278748950 | PYCR1 | c.798-10G= (n.798-10G=) c.879-10G= (n.879-10G=) c.705-10G= (n.705-10G=) c.634-10G= (n.634-10G=) c.708-10G= (n.708-10G=) c.502-10G= (n.502-10G=) c.715-10G= (n.715-10G=) | |
| 17 | g.81933386C>T | CA775690247 | PYCR1 | c.798-10G>A (n.798-10G>A) c.879-10G>A (n.879-10G>A) c.705-10G>A (n.705-10G>A) c.634-10G>A (n.634-10G>A) c.708-10G>A (n.708-10G>A) c.502-10G>A (n.502-10G>A) c.715-10G>A (n.715-10G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81933387A= | CA2278748951 | PYCR1 | c.798-11T= (n.798-11T=) c.879-11T= (n.879-11T=) c.705-11T= (n.705-11T=) c.634-11T= (n.634-11T=) c.708-11T= (n.708-11T=) c.502-11T= (n.502-11T=) c.715-11T= (n.715-11T=) | |
| 17 | g.81933387A>G | CA628025203 | PYCR1 | c.798-11T>C (n.798-11T>C) c.879-11T>C (n.879-11T>C) c.705-11T>C (n.705-11T>C) c.634-11T>C (n.634-11T>C) c.708-11T>C (n.708-11T>C) c.502-11T>C (n.502-11T>C) c.715-11T>C (n.715-11T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |