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 |
|---|---|---|---|---|---|
| 14 | g.50905379_50905392delinsACAATTCTAGAGTT | CA2136411116 | PYGL | c.2544_*13delinsAACTCTAGAATTGT (n.[c.2544_*13delinsAACTCTAGAATTGT;Ter848=]) c.2379+2879_2379+2892delinsAACTCTAGAATTGT (n.2379+2879_2379+2892delinsAACTCTAGAATTGT) c.2442_*13delinsAACTCTAGAATTGT (n.[c.2442_*13delinsAACTCTAGAATTGT;Ter814=]) | |
| 14 | g.50905385_50905397del | CA7183080 | PYGL | c.2544_*12del (n.[c.2544_*12del;Ter848CysextTer3]) c.2379+2879_2379+2891del (n.2379+2879_2379+2891del) c.2442_*12del (n.[c.2442_*12del;Ter814CysextTer3]) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905388G>C | CA614275198 | PYGL | c.*4C>G (n.*4C>G) c.2379+2883C>G (n.2379+2883C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905388G= | CA2136411147 | PYGL | c.*4C= (n.*4C=) c.2379+2883C= (n.2379+2883C=) | |
| 14 | g.50905389A= | CA2136411149 | PYGL | c.*3T= (n.*3T=) c.2379+2882T= (n.2379+2882T=) | |
| 14 | g.50905389A>C | CA260818791 | PYGL | c.*3T>G (n.*3T>G) c.2379+2882T>G (n.2379+2882T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905389A>G | CA260818784 | PYGL | c.*3T>C (n.*3T>C) c.2379+2882T>C (n.2379+2882T>C) | dbSNP |
| 14 | g.50905389A>T | CA2624828903 | PYGL | c.*3T>A (n.*3T>A) c.2379+2882T>A (n.2379+2882T>A) | gnomAD v4 |
| 14 | g.50905390G= | CA2136411153 | PYGL | c.*2C= (n.*2C=) c.2379+2881C= (n.2379+2881C=) | |
| 14 | g.50905390G>T | CA2136411154 | PYGL | c.*2C>A (n.*2C>A) c.2379+2881C>A (n.2379+2881C>A) | dbSNP gnomAD v4 |
| 14 | g.50905391T>G | CA2624828905 | PYGL | c.*1A>C (n.*1A>C) c.2379+2880A>C (n.2379+2880A>C) | gnomAD v4 |
| 14 | g.50905392T>A | CA389678582 | PYGL | c.2544A>T (p.Ter848Cys) c.2379+2879A>T (n.2379+2879A>T) c.2442A>T (p.Ter814Cys) | |
| 14 | g.50905392T>C | CA389678584 | PYGL | c.2544A>G (p.Ter848Trp) c.2379+2879A>G (n.2379+2879A>G) c.2442A>G (p.Ter814Trp) | |
| 14 | g.50905392T>G | CA389678592 | PYGL | c.2544A>C (p.Ter848Cys) c.2379+2879A>C (n.2379+2879A>C) c.2442A>C (p.Ter814Cys) | |
| 14 | g.50905393C>A | CA389678598 | PYGL | c.2543G>T (p.Ter848Leu) c.2379+2878G>T (n.2379+2878G>T) c.2441G>T (p.Ter814Leu) | |
| 14 | g.50905393C>G | CA389678595 | PYGL | c.2543G>C (p.Ter848Ser) c.2379+2878G>C (n.2379+2878G>C) c.2441G>C (p.Ter814Ser) | |
| 14 | g.50905393C>T | CA486371950 | PYGL | c.2543G>A (p.Ter848=) c.2379+2878G>A (n.2379+2878G>A) c.2441G>A (p.Ter814=) | |
| 14 | g.50905394A>C | CA389678601 | PYGL | c.2542T>G (p.Ter848Gly) c.2379+2877T>G (n.2379+2877T>G) c.2440T>G (p.Ter814Gly) | |
| 14 | g.50905394A>G | CA389678603 | PYGL | c.2542T>C (p.Ter848Arg) c.2379+2877T>C (n.2379+2877T>C) c.2440T>C (p.Ter814Arg) | |
| 14 | g.50905394A>T | CA389678606 | PYGL | c.2542T>A (p.Ter848Arg) c.2379+2877T>A (n.2379+2877T>A) c.2440T>A (p.Ter814Arg) | |
| 14 | g.50905395A= | CA2136411156 | PYGL | c.2541T= (p.Asn847=) c.2379+2876T= (n.2379+2876T=) c.2439T= (p.Asn813=) | |
| 14 | g.50905395A>C | CA389678608 | PYGL | c.2541T>G (p.Asn847Lys) c.2379+2876T>G (n.2379+2876T>G) c.2439T>G (p.Asn813Lys) | |
| 14 | g.50905395A>G | CA486371959 | PYGL | c.2541T>C (p.Asn847=) c.2379+2876T>C (n.2379+2876T>C) c.2439T>C (p.Asn813=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.50905395A>T | CA389678611 | PYGL | c.2541T>A (p.Asn847Lys) c.2379+2876T>A (n.2379+2876T>A) c.2439T>A (p.Asn813Lys) | |
| 14 | g.50905396T>A | CA7183085 | PYGL | c.2540A>T (p.Asn847Ile) c.2379+2875A>T (n.2379+2875A>T) c.2438A>T (p.Asn813Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905396T>C | CA389678617 | PYGL | c.2540A>G (p.Asn847Ser) c.2379+2875A>G (n.2379+2875A>G) c.2438A>G (p.Asn813Ser) | dbSNP |
| 14 | g.50905396T>G | CA389678614 | PYGL | c.2540A>C (p.Asn847Thr) c.2379+2875A>C (n.2379+2875A>C) c.2438A>C (p.Asn813Thr) | |
| 14 | g.50905396T= | CA2136411158 | PYGL | c.2540A= (p.Asn847=) c.2379+2875A= (n.2379+2875A=) c.2438A= (p.Asn813=) | |
| 14 | g.50905397T>A | CA389678621 | PYGL | c.2539A>T (p.Asn847Tyr) c.2379+2874A>T (n.2379+2874A>T) c.2437A>T (p.Asn813Tyr) | |
| 14 | g.50905397T>C | CA389678627 | PYGL | c.2539A>G (p.Asn847Asp) c.2379+2874A>G (n.2379+2874A>G) c.2437A>G (p.Asn813Asp) | |
| 14 | g.50905397T>G | CA389678629 | PYGL | c.2539A>C (p.Asn847His) c.2379+2874A>C (n.2379+2874A>C) c.2437A>C (p.Asn813His) | |
| 14 | g.50905398T>A | CA486371974 | PYGL | c.2538A>T (p.Gly846=) c.2379+2873A>T (n.2379+2873A>T) c.2436A>T (p.Gly812=) | |
| 14 | g.50905398T>C | CA486371976 | PYGL | c.2538A>G (p.Gly846=) c.2379+2873A>G (n.2379+2873A>G) c.2436A>G (p.Gly812=) | |
| 14 | g.50905398T>G | CA486371977 | PYGL | c.2538A>C (p.Gly846=) c.2379+2873A>C (n.2379+2873A>C) c.2436A>C (p.Gly812=) | |
| 14 | g.50905399C>A | CA389678632 | PYGL | c.2537G>T (p.Gly846Val) c.2379+2872G>T (n.2379+2872G>T) c.2435G>T (p.Gly812Val) | COSMIC |
| 14 | g.50905399C>G | CA389678634 | PYGL | c.2537G>C (p.Gly846Ala) c.2379+2872G>C (n.2379+2872G>C) c.2435G>C (p.Gly812Ala) | |
| 14 | g.50905399C>T | CA389678637 | PYGL | c.2537G>A (p.Gly846Glu) c.2379+2872G>A (n.2379+2872G>A) c.2435G>A (p.Gly812Glu) | |
| 14 | g.50905400C>A | CA389678640 | PYGL | c.2536G>T (p.Gly846Ter) c.2379+2871G>T (n.2379+2871G>T) c.2434G>T (p.Gly812Ter) | |
| 14 | g.50905400C>G | CA389678644 | PYGL | c.2536G>C (p.Gly846Arg) c.2379+2871G>C (n.2379+2871G>C) c.2434G>C (p.Gly812Arg) | |
| 14 | g.50905400C>T | CA389678642 | PYGL | c.2536G>A (p.Gly846Arg) c.2379+2871G>A (n.2379+2871G>A) c.2434G>A (p.Gly812Arg) | |
| 14 | g.50905401A>C | CA389678646 | PYGL | c.2535T>G (p.Asn845Lys) c.2379+2870T>G (n.2379+2870T>G) c.2433T>G (p.Asn811Lys) | gnomAD v4 |
| 14 | g.50905401A>G | CA486371991 | PYGL | c.2535T>C (p.Asn845=) c.2379+2870T>C (n.2379+2870T>C) c.2433T>C (p.Asn811=) | |
| 14 | g.50905401A>T | CA389678649 | PYGL | c.2535T>A (p.Asn845Lys) c.2379+2870T>A (n.2379+2870T>A) c.2433T>A (p.Asn811Lys) | |
| 14 | g.50905402T>A | CA389678650 | PYGL | c.2534A>T (p.Asn845Ile) c.2379+2869A>T (n.2379+2869A>T) c.2432A>T (p.Asn811Ile) | |
| 14 | g.50905402T>C | CA7183086 | PYGL | c.2534A>G (p.Asn845Ser) c.2379+2869A>G (n.2379+2869A>G) c.2432A>G (p.Asn811Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905402T>G | CA389678654 | PYGL | c.2534A>C (p.Asn845Thr) c.2379+2869A>C (n.2379+2869A>C) c.2432A>C (p.Asn811Thr) | |
| 14 | g.50905402T= | CA2136411162 | PYGL | c.2534A= (p.Asn845=) c.2379+2869A= (n.2379+2869A=) c.2432A= (p.Asn811=) | |
| 14 | g.50905403T>A | CA389678655 | PYGL | c.2533A>T (p.Asn845Tyr) c.2379+2868A>T (n.2379+2868A>T) c.2431A>T (p.Asn811Tyr) | gnomAD v4 |
| 14 | g.50905403T>C | CA389678656 | PYGL | c.2533A>G (p.Asn845Asp) c.2379+2868A>G (n.2379+2868A>G) c.2431A>G (p.Asn811Asp) | |
| 14 | g.50905403T>G | CA260818799 | PYGL | c.2533A>C (p.Asn845His) c.2379+2868A>C (n.2379+2868A>C) c.2431A>C (p.Asn811His) | dbSNP COSMIC |
| 14 | g.50905403T= | CA2136411164 | PYGL | c.2533A= (p.Asn845=) c.2379+2868A= (n.2379+2868A=) c.2431A= (p.Asn811=) | |
| 14 | g.50905404G>A | CA486372001 | PYGL | c.2532C>T (p.Val844=) c.2379+2867C>T (n.2379+2867C>T) c.2430C>T (p.Val810=) | |
| 14 | g.50905404G>C | CA486372003 | PYGL | c.2532C>G (p.Val844=) c.2379+2867C>G (n.2379+2867C>G) c.2430C>G (p.Val810=) | |
| 14 | g.50905404G>T | CA486372006 | PYGL | c.2532C>A (p.Val844=) c.2379+2867C>A (n.2379+2867C>A) c.2430C>A (p.Val810=) | |
| 14 | g.50905405A>C | CA389678661 | PYGL | c.2531T>G (p.Val844Gly) c.2379+2866T>G (n.2379+2866T>G) c.2429T>G (p.Val810Gly) | |
| 14 | g.50905405A>G | CA389678663 | PYGL | c.2531T>C (p.Val844Ala) c.2379+2866T>C (n.2379+2866T>C) c.2429T>C (p.Val810Ala) | |
| 14 | g.50905405A>T | CA389678665 | PYGL | c.2531T>A (p.Val844Asp) c.2379+2866T>A (n.2379+2866T>A) c.2429T>A (p.Val810Asp) | |
| 14 | g.50905406C>A | CA389678667 | PYGL | c.2530G>T (p.Val844Phe) c.2379+2865G>T (n.2379+2865G>T) c.2428G>T (p.Val810Phe) | |
| 14 | g.50905406C>G | CA389678670 | PYGL | c.2530G>C (p.Val844Leu) c.2379+2865G>C (n.2379+2865G>C) c.2428G>C (p.Val810Leu) | |
| 14 | g.50905406C>T | CA389678672 | PYGL | c.2530G>A (p.Val844Ile) c.2379+2865G>A (n.2379+2865G>A) c.2428G>A (p.Val810Ile) | |
| 14 | g.50905407T>A | CA389678675 | PYGL | c.2529A>T (p.Lys843Asn) c.2379+2864A>T (n.2379+2864A>T) c.2427A>T (p.Lys809Asn) | |
| 14 | g.50905407T>C | CA486372023 | PYGL | c.2529A>G (p.Lys843=) c.2379+2864A>G (n.2379+2864A>G) c.2427A>G (p.Lys809=) | dbSNP |
| 14 | g.50905407T>G | CA389678676 | PYGL | c.2529A>C (p.Lys843Asn) c.2379+2864A>C (n.2379+2864A>C) c.2427A>C (p.Lys809Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905407T= | CA2136411167 | PYGL | c.2529A= (p.Lys843=) c.2379+2864A= (n.2379+2864A=) c.2427A= (p.Lys809=) | |
| 14 | g.50905408T>A | CA389678678 | PYGL | c.2528A>T (p.Lys843Ile) c.2379+2863A>T (n.2379+2863A>T) c.2426A>T (p.Lys809Ile) | |
| 14 | g.50905408T>C | CA389678680 | PYGL | c.2528A>G (p.Lys843Arg) c.2379+2863A>G (n.2379+2863A>G) c.2426A>G (p.Lys809Arg) | |
| 14 | g.50905408T>G | CA389678682 | PYGL | c.2528A>C (p.Lys843Thr) c.2379+2863A>C (n.2379+2863A>C) c.2426A>C (p.Lys809Thr) | |
| 14 | g.50905409T>A | CA389678685 | PYGL | c.2527A>T (p.Lys843Ter) c.2379+2862A>T (n.2379+2862A>T) c.2425A>T (p.Lys809Ter) | |
| 14 | g.50905409T>C | CA389678688 | PYGL | c.2527A>G (p.Lys843Glu) c.2379+2862A>G (n.2379+2862A>G) c.2425A>G (p.Lys809Glu) | |
| 14 | g.50905409T>G | CA389678690 | PYGL | c.2527A>C (p.Lys843Gln) c.2379+2862A>C (n.2379+2862A>C) c.2425A>C (p.Lys809Gln) | |
| 14 | g.50905410G>A | CA486372038 | PYGL | c.2526C>T (p.Asn842=) c.2379+2861C>T (n.2379+2861C>T) c.2424C>T (p.Asn808=) | |
| 14 | g.50905410G>C | CA389678692 | PYGL | c.2526C>G (p.Asn842Lys) c.2379+2861C>G (n.2379+2861C>G) c.2424C>G (p.Asn808Lys) | |
| 14 | g.50905410G>T | CA389678695 | PYGL | c.2526C>A (p.Asn842Lys) c.2379+2861C>A (n.2379+2861C>A) c.2424C>A (p.Asn808Lys) | gnomAD v4 |
| 14 | g.50905411T>A | CA389678699 | PYGL | c.2525A>T (p.Asn842Ile) c.2379+2860A>T (n.2379+2860A>T) c.2423A>T (p.Asn808Ile) | |
| 14 | g.50905411T>C | CA389678701 | PYGL | c.2525A>G (p.Asn842Ser) c.2379+2860A>G (n.2379+2860A>G) c.2423A>G (p.Asn808Ser) | gnomAD v4 |
| 14 | g.50905411T>G | CA389678703 | PYGL | c.2525A>C (p.Asn842Thr) c.2379+2860A>C (n.2379+2860A>C) c.2423A>C (p.Asn808Thr) | |
| 14 | g.50905412T>A | CA389678711 | PYGL | c.2524A>T (p.Asn842Tyr) c.2379+2859A>T (n.2379+2859A>T) c.2422A>T (p.Asn808Tyr) | |
| 14 | g.50905412T>C | CA389678708 | PYGL | c.2524A>G (p.Asn842Asp) c.2379+2859A>G (n.2379+2859A>G) c.2422A>G (p.Asn808Asp) | dbSNP |
| 14 | g.50905412T>G | CA389678706 | PYGL | c.2524A>C (p.Asn842His) c.2379+2859A>C (n.2379+2859A>C) c.2422A>C (p.Asn808His) | |
| 14 | g.50905412T= | CA2136411171 | PYGL | c.2524A= (p.Asn842=) c.2379+2859A= (n.2379+2859A=) c.2422A= (p.Asn808=) | |
| 14 | g.50905413A>C | CA486372054 | PYGL | c.2523T>G (p.Ser841=) c.2379+2858T>G (n.2379+2858T>G) c.2421T>G (p.Ser807=) | |
| 14 | g.50905413A>G | CA486372059 | PYGL | c.2523T>C (p.Ser841=) c.2379+2858T>C (n.2379+2858T>C) c.2421T>C (p.Ser807=) | |
| 14 | g.50905413A>T | CA486372056 | PYGL | c.2523T>A (p.Ser841=) c.2379+2858T>A (n.2379+2858T>A) c.2421T>A (p.Ser807=) | |
| 14 | g.50905414G>A | CA389678713 | PYGL | c.2522C>T (p.Ser841Phe) c.2379+2857C>T (n.2379+2857C>T) c.2420C>T (p.Ser807Phe) | |
| 14 | g.50905414G>C | CA389678714 | PYGL | c.2522C>G (p.Ser841Cys) c.2379+2857C>G (n.2379+2857C>G) c.2420C>G (p.Ser807Cys) | |
| 14 | g.50905414G= | CA2136411174 | PYGL | c.2522C= (p.Ser841=) c.2379+2857C= (n.2379+2857C=) c.2420C= (p.Ser807=) | |
| 14 | g.50905414G>T | CA389678718 | PYGL | c.2522C>A (p.Ser841Tyr) c.2379+2857C>A (n.2379+2857C>A) c.2420C>A (p.Ser807Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905415A>C | CA389678721 | PYGL | c.2521T>G (p.Ser841Ala) c.2379+2856T>G (n.2379+2856T>G) c.2419T>G (p.Ser807Ala) | |
| 14 | g.50905415A>G | CA389678722 | PYGL | c.2521T>C (p.Ser841Pro) c.2379+2856T>C (n.2379+2856T>C) c.2419T>C (p.Ser807Pro) | |
| 14 | g.50905415A>T | CA389678724 | PYGL | c.2521T>A (p.Ser841Thr) c.2379+2856T>A (n.2379+2856T>A) c.2419T>A (p.Ser807Thr) | |
| 14 | g.50905416T>A | CA389678728 | PYGL | c.2520A>T (p.Glu840Asp) c.2379+2855A>T (n.2379+2855A>T) c.2418A>T (p.Glu806Asp) | |
| 14 | g.50905416T>C | CA486372074 | PYGL | c.2520A>G (p.Glu840=) c.2379+2855A>G (n.2379+2855A>G) c.2418A>G (p.Glu806=) | |
| 14 | g.50905416T>G | CA389678730 | PYGL | c.2520A>C (p.Glu840Asp) c.2379+2855A>C (n.2379+2855A>C) c.2418A>C (p.Glu806Asp) | |
| 14 | g.50905417T>A | CA389678731 | PYGL | c.2519A>T (p.Glu840Val) c.2379+2854A>T (n.2379+2854A>T) c.2417A>T (p.Glu806Val) | |
| 14 | g.50905417T>C | CA389678735 | PYGL | c.2519A>G (p.Glu840Gly) c.2379+2854A>G (n.2379+2854A>G) c.2417A>G (p.Glu806Gly) | |
| 14 | g.50905417T>G | CA389678732 | PYGL | c.2519A>C (p.Glu840Ala) c.2379+2854A>C (n.2379+2854A>C) c.2417A>C (p.Glu806Ala) | |
| 14 | g.50905418C>A | CA7183087 | PYGL | c.2518G>T (p.Glu840Ter) c.2379+2853G>T (n.2379+2853G>T) c.2416G>T (p.Glu806Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905418C= | CA2136411177 | PYGL | c.2518G= (p.Glu840=) c.2379+2853G= (n.2379+2853G=) c.2416G= (p.Glu806=) | |
| 14 | g.50905418C>G | CA389678738 | PYGL | c.2518G>C (p.Glu840Gln) c.2379+2853G>C (n.2379+2853G>C) c.2416G>C (p.Glu806Gln) | gnomAD v4 |
| 14 | g.50905418C>T | CA389678741 | PYGL | c.2518G>A (p.Glu840Lys) c.2379+2853G>A (n.2379+2853G>A) c.2416G>A (p.Glu806Lys) | |
| 14 | g.50905419A>C | CA389678743 | PYGL | c.2517T>G (p.Asn839Lys) c.2379+2852T>G (n.2379+2852T>G) c.2415T>G (p.Asn805Lys) | |
| 14 | g.50905419A>G | CA486372087 | PYGL | c.2517T>C (p.Asn839=) c.2379+2852T>C (n.2379+2852T>C) c.2415T>C (p.Asn805=) | gnomAD v4 |
| 14 | g.50905419A>T | CA389678745 | PYGL | c.2517T>A (p.Asn839Lys) c.2379+2852T>A (n.2379+2852T>A) c.2415T>A (p.Asn805Lys) | |
| 14 | g.50905420T>A | CA389678747 | PYGL | c.2516A>T (p.Asn839Ile) c.2379+2851A>T (n.2379+2851A>T) c.2414A>T (p.Asn805Ile) | gnomAD v4 |
| 14 | g.50905420T>C | CA389678749 | PYGL | c.2516A>G (p.Asn839Ser) c.2379+2851A>G (n.2379+2851A>G) c.2414A>G (p.Asn805Ser) | |
| 14 | g.50905420T>G | CA389678748 | PYGL | c.2516A>C (p.Asn839Thr) c.2379+2851A>C (n.2379+2851A>C) c.2414A>C (p.Asn805Thr) | |
| 14 | g.50905421T>A | CA389678752 | PYGL | c.2515A>T (p.Asn839Tyr) c.2379+2850A>T (n.2379+2850A>T) c.2413A>T (p.Asn805Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905421T>C | CA389678753 | PYGL | c.2515A>G (p.Asn839Asp) c.2379+2850A>G (n.2379+2850A>G) c.2413A>G (p.Asn805Asp) | gnomAD v4 |
| 14 | g.50905421T>G | CA389678756 | PYGL | c.2515A>C (p.Asn839His) c.2379+2850A>C (n.2379+2850A>C) c.2413A>C (p.Asn805His) | |
| 14 | g.50905421T= | CA2136411181 | PYGL | c.2515A= (p.Asn839=) c.2379+2850A= (n.2379+2850A=) c.2413A= (p.Asn805=) | |
| 14 | g.50905422G>A | CA486372103 | PYGL | c.2514C>T (p.Ser838=) c.2379+2849C>T (n.2379+2849C>T) c.2412C>T (p.Ser804=) | |
| 14 | g.50905422G>C | CA486372104 | PYGL | c.2514C>G (p.Ser838=) c.2379+2849C>G (n.2379+2849C>G) c.2412C>G (p.Ser804=) | |
| 14 | g.50905422G= | CA2136411183 | PYGL | c.2514C= (p.Ser838=) c.2379+2849C= (n.2379+2849C=) c.2412C= (p.Ser804=) | |
| 14 | g.50905422G>T | CA486372106 | PYGL | c.2514C>A (p.Ser838=) c.2379+2849C>A (n.2379+2849C>A) c.2412C>A (p.Ser804=) | dbSNP gnomAD v4 |
| 14 | g.50905423G>A | CA389678758 | PYGL | c.2513C>T (p.Ser838Phe) c.2379+2848C>T (n.2379+2848C>T) c.2411C>T (p.Ser804Phe) | |
| 14 | g.50905423G>C | CA389678761 | PYGL | c.2513C>G (p.Ser838Cys) c.2379+2848C>G (n.2379+2848C>G) c.2411C>G (p.Ser804Cys) | |
| 14 | g.50905423G= | CA2136411185 | PYGL | c.2513C= (p.Ser838=) c.2379+2848C= (n.2379+2848C=) c.2411C= (p.Ser804=) | |
| 14 | g.50905423G>T | CA389678763 | PYGL | c.2513C>A (p.Ser838Tyr) c.2379+2848C>A (n.2379+2848C>A) c.2411C>A (p.Ser804Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905424A= | CA2136411186 | PYGL | c.2512T= (p.Ser838=) c.2379+2847T= (n.2379+2847T=) c.2410T= (p.Ser804=) | |
| 14 | g.50905424A>C | CA389678764 | PYGL | c.2512T>G (p.Ser838Ala) c.2379+2847T>G (n.2379+2847T>G) c.2410T>G (p.Ser804Ala) | |
| 14 | g.50905424A>G | CA389678766 | PYGL | c.2512T>C (p.Ser838Pro) c.2379+2847T>C (n.2379+2847T>C) c.2410T>C (p.Ser804Pro) | |
| 14 | g.50905424A>T | CA389678767 | PYGL | c.2512T>A (p.Ser838Thr) c.2379+2847T>A (n.2379+2847T>A) c.2410T>A (p.Ser804Thr) | |
| 14 | g.50905425T>A | CA486372121 | PYGL | c.2511A>T (p.Leu837=) c.2379+2846A>T (n.2379+2846A>T) c.2409A>T (p.Leu803=) | |
| 14 | g.50905425T>C | CA486372124 | PYGL | c.2511A>G (p.Leu837=) c.2379+2846A>G (n.2379+2846A>G) c.2409A>G (p.Leu803=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905425T>G | CA486372126 | PYGL | c.2511A>C (p.Leu837=) c.2379+2846A>C (n.2379+2846A>C) c.2409A>C (p.Leu803=) | |
| 14 | g.50905425T= | CA2136411188 | PYGL | c.2511A= (p.Leu837=) c.2379+2846A= (n.2379+2846A=) c.2409A= (p.Leu803=) | |
| 14 | g.50905425dup | CA614275199 | PYGL | c.2511dup (p.Ser838IlefsTer3) c.2379+2846dup (n.2379+2846dup) c.2409dup (p.Ser804IlefsTer3) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905426A= | CA2136411191 | PYGL | c.2510T= (p.Leu837=) c.2379+2845T= (n.2379+2845T=) c.2408T= (p.Leu803=) | |
| 14 | g.50905426A>C | CA389678770 | PYGL | c.2510T>G (p.Leu837Arg) c.2379+2845T>G (n.2379+2845T>G) c.2408T>G (p.Leu803Arg) | |
| 14 | g.50905426A>G | CA389678772 | PYGL | c.2510T>C (p.Leu837Pro) c.2379+2845T>C (n.2379+2845T>C) c.2408T>C (p.Leu803Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905426A>T | CA389678774 | PYGL | c.2510T>A (p.Leu837Gln) c.2379+2845T>A (n.2379+2845T>A) c.2408T>A (p.Leu803Gln) | |
| 14 | g.50905427G>A | CA7183088 | PYGL | c.2509C>T (p.Leu837=) c.2379+2844C>T (n.2379+2844C>T) c.2407C>T (p.Leu803=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.50905427G>C | CA389678780 | PYGL | c.2509C>G (p.Leu837Val) c.2379+2844C>G (n.2379+2844C>G) c.2407C>G (p.Leu803Val) | |
| 14 | g.50905427G= | CA2136411193 | PYGL | c.2509C= (p.Leu837=) c.2379+2844C= (n.2379+2844C=) c.2407C= (p.Leu803=) | |
| 14 | g.50905427G>T | CA389678777 | PYGL | c.2509C>A (p.Leu837Ile) c.2379+2844C>A (n.2379+2844C>A) c.2407C>A (p.Leu803Ile) | |
| 14 | g.50905428A>C | CA486372139 | PYGL | c.2508T>G (p.Ser836=) c.2379+2843T>G (n.2379+2843T>G) c.2406T>G (p.Ser802=) | |
| 14 | g.50905428A>G | CA486372142 | PYGL | c.2508T>C (p.Ser836=) c.2379+2843T>C (n.2379+2843T>C) c.2406T>C (p.Ser802=) | dbSNP |
| 14 | g.50905428A>T | CA486372145 | PYGL | c.2508T>A (p.Ser836=) c.2379+2843T>A (n.2379+2843T>A) c.2406T>A (p.Ser802=) | |
| 14 | g.50905429G>A | CA7183089 | PYGL | c.2507C>T (p.Ser836Phe) c.2379+2842C>T (n.2379+2842C>T) c.2405C>T (p.Ser802Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50905429G>C | CA389678783 | PYGL | c.2507C>G (p.Ser836Cys) c.2379+2842C>G (n.2379+2842C>G) c.2405C>G (p.Ser802Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905429G= | CA2136411197 | PYGL | c.2507C= (p.Ser836=) c.2379+2842C= (n.2379+2842C=) c.2405C= (p.Ser802=) | |
| 14 | g.50905429G>T | CA389678786 | PYGL | c.2507C>A (p.Ser836Tyr) c.2379+2842C>A (n.2379+2842C>A) c.2405C>A (p.Ser802Tyr) | |
| 14 | g.50905430A= | CA2136411200 | PYGL | c.2506T= (p.Ser836=) c.2379+2841T= (n.2379+2841T=) c.2404T= (p.Ser802=) | |
| 14 | g.50905430A>C | CA260818811 | PYGL | c.2506T>G (p.Ser836Ala) c.2379+2841T>G (n.2379+2841T>G) c.2404T>G (p.Ser802Ala) | dbSNP |
| 14 | g.50905430A>G | CA389678794 | PYGL | c.2506T>C (p.Ser836Pro) c.2379+2841T>C (n.2379+2841T>C) c.2404T>C (p.Ser802Pro) | |
| 14 | g.50905430A>T | CA389678796 | PYGL | c.2506T>A (p.Ser836Thr) c.2379+2841T>A (n.2379+2841T>A) c.2404T>A (p.Ser802Thr) | |
| 14 | g.50905431A>C | CA389678799 | PYGL | c.2505T>G (p.Ile835Met) c.2379+2840T>G (n.2379+2840T>G) c.2403T>G (p.Ile801Met) | |
| 14 | g.50905431A>G | CA486372161 | PYGL | c.2505T>C (p.Ile835=) c.2379+2840T>C (n.2379+2840T>C) c.2403T>C (p.Ile801=) | |
| 14 | g.50905431A>T | CA486372163 | PYGL | c.2505T>A (p.Ile835=) c.2379+2840T>A (n.2379+2840T>A) c.2403T>A (p.Ile801=) | |
| 14 | g.50905432A>C | CA389678800 | PYGL | c.2504T>G (p.Ile835Ser) c.2379+2839T>G (n.2379+2839T>G) c.2402T>G (p.Ile801Ser) | |
| 14 | g.50905432A>G | CA389678802 | PYGL | c.2504T>C (p.Ile835Thr) c.2379+2839T>C (n.2379+2839T>C) c.2402T>C (p.Ile801Thr) | gnomAD v4 |
| 14 | g.50905432A>T | CA389678805 | PYGL | c.2504T>A (p.Ile835Asn) c.2379+2839T>A (n.2379+2839T>A) c.2402T>A (p.Ile801Asn) | |
| 14 | g.50905433T>A | CA389678808 | PYGL | c.2503A>T (p.Ile835Phe) c.2379+2838A>T (n.2379+2838A>T) c.2401A>T (p.Ile801Phe) | |
| 14 | g.50905433T>C | CA389678810 | PYGL | c.2503A>G (p.Ile835Val) c.2379+2838A>G (n.2379+2838A>G) c.2401A>G (p.Ile801Val) | gnomAD v4 |
| 14 | g.50905433T>G | CA389678811 | PYGL | c.2503A>C (p.Ile835Leu) c.2379+2838A>C (n.2379+2838A>C) c.2401A>C (p.Ile801Leu) | |
| 14 | g.50905434C>A | CA389678816 | PYGL | c.2502G>T (p.Lys834Asn) c.2379+2837G>T (n.2379+2837G>T) c.2400G>T (p.Lys800Asn) | |
| 14 | g.50905434C= | CA2136411205 | PYGL | c.2502G= (p.Lys834=) c.2379+2837G= (n.2379+2837G=) c.2400G= (p.Lys800=) | |
| 14 | g.50905434C>G | CA389678813 | PYGL | c.2502G>C (p.Lys834Asn) c.2379+2837G>C (n.2379+2837G>C) c.2400G>C (p.Lys800Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905434C>T | CA486372178 | PYGL | c.2502G>A (p.Lys834=) c.2379+2837G>A (n.2379+2837G>A) c.2400G>A (p.Lys800=) | ClinVar |
| 14 | g.50905435T>A | CA389678819 | PYGL | c.2501A>T (p.Lys834Met) c.2379+2836A>T (n.2379+2836A>T) c.2399A>T (p.Lys800Met) | |
| 14 | g.50905435T>C | CA389678821 | PYGL | c.2501A>G (p.Lys834Arg) c.2379+2836A>G (n.2379+2836A>G) c.2399A>G (p.Lys800Arg) | |
| 14 | g.50905435T>G | CA389678822 | PYGL | c.2501A>C (p.Lys834Thr) c.2379+2836A>C (n.2379+2836A>C) c.2399A>C (p.Lys800Thr) | |
| 14 | g.50905437del | CA2575525118 | PYGL | c.2501del (p.Lys834ArgfsTer17) c.2379+2836del (n.2379+2836del) c.2399del (p.Lys800ArgfsTer17) | |
| 14 | g.50905436T>A | CA389678824 | PYGL | c.2500A>T (p.Lys834Ter) c.2379+2835A>T (n.2379+2835A>T) c.2398A>T (p.Lys800Ter) | |
| 14 | g.50905436T>C | CA389678825 | PYGL | c.2500A>G (p.Lys834Glu) c.2379+2835A>G (n.2379+2835A>G) c.2398A>G (p.Lys800Glu) | |
| 14 | g.50905436T>G | CA389678828 | PYGL | c.2500A>C (p.Lys834Gln) c.2379+2835A>C (n.2379+2835A>C) c.2398A>C (p.Lys800Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905436T= | CA2136411207 | PYGL | c.2500A= (p.Lys834=) c.2379+2835A= (n.2379+2835A=) c.2398A= (p.Lys800=) | |
| 14 | g.50905437T>A | CA486372197 | PYGL | c.2499A>T (p.Leu833=) c.2379+2834A>T (n.2379+2834A>T) c.2397A>T (p.Leu799=) | |
| 14 | g.50905437T>C | CA486372195 | PYGL | c.2499A>G (p.Leu833=) c.2379+2834A>G (n.2379+2834A>G) c.2397A>G (p.Leu799=) | dbSNP gnomAD v4 |
| 14 | g.50905437T>G | CA486372193 | PYGL | c.2499A>C (p.Leu833=) c.2379+2834A>C (n.2379+2834A>C) c.2397A>C (p.Leu799=) | |
| 14 | g.50905437T= | CA2136411208 | PYGL | c.2499A= (p.Leu833=) c.2379+2834A= (n.2379+2834A=) c.2397A= (p.Leu799=) | |
| 14 | g.50905438A>C | CA389678831 | PYGL | c.2498T>G (p.Leu833Arg) c.2379+2833T>G (n.2379+2833T>G) c.2396T>G (p.Leu799Arg) | dbSNP |
| 14 | g.50905438A>G | CA389678833 | PYGL | c.2498T>C (p.Leu833Pro) c.2379+2833T>C (n.2379+2833T>C) c.2396T>C (p.Leu799Pro) | |
| 14 | g.50905438A>T | CA389678834 | PYGL | c.2498T>A (p.Leu833Gln) c.2379+2833T>A (n.2379+2833T>A) c.2396T>A (p.Leu799Gln) | |
| 14 | g.50905439G>A | CA486372209 | PYGL | c.2497C>T (p.Leu833=) c.2379+2832C>T (n.2379+2832C>T) c.2395C>T (p.Leu799=) | gnomAD v4 |
| 14 | g.50905439G>C | CA389678837 | PYGL | c.2497C>G (p.Leu833Val) c.2379+2832C>G (n.2379+2832C>G) c.2395C>G (p.Leu799Val) | |
| 14 | g.50905439G>T | CA389678839 | PYGL | c.2497C>A (p.Leu833Ile) c.2379+2832C>A (n.2379+2832C>A) c.2395C>A (p.Leu799Ile) | |
| 14 | g.50905440A>C | CA389678842 | PYGL | c.2496T>G (p.Asp832Glu) c.2379+2831T>G (n.2379+2831T>G) c.2394T>G (p.Asp798Glu) | |
| 14 | g.50905440A>G | CA486372225 | PYGL | c.2496T>C (p.Asp832=) c.2379+2831T>C (n.2379+2831T>C) c.2394T>C (p.Asp798=) | |
| 14 | g.50905440A>T | CA389678844 | PYGL | c.2496T>A (p.Asp832Glu) c.2379+2831T>A (n.2379+2831T>A) c.2394T>A (p.Asp798Glu) | |
| 14 | g.50905441T>A | CA389678848 | PYGL | c.2495A>T (p.Asp832Val) c.2379+2830A>T (n.2379+2830A>T) c.2393A>T (p.Asp798Val) | |
| 14 | g.50905441T>C | CA389678846 | PYGL | c.2495A>G (p.Asp832Gly) c.2379+2830A>G (n.2379+2830A>G) c.2393A>G (p.Asp798Gly) | |
| 14 | g.50905441T>G | CA260818817 | PYGL | c.2495A>C (p.Asp832Ala) c.2379+2830A>C (n.2379+2830A>C) c.2393A>C (p.Asp798Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905441T= | CA2136411211 | PYGL | c.2495A= (p.Asp832=) c.2379+2830A= (n.2379+2830A=) c.2393A= (p.Asp798=) | |
| 14 | g.50905442C>A | CA389678851 | PYGL | c.2494G>T (p.Asp832Tyr) c.2379+2829G>T (n.2379+2829G>T) c.2392G>T (p.Asp798Tyr) | gnomAD v4 |
| 14 | g.50905442C>G | CA389678856 | PYGL | c.2494G>C (p.Asp832His) c.2379+2829G>C (n.2379+2829G>C) c.2392G>C (p.Asp798His) | |
| 14 | g.50905442C>T | CA389678854 | PYGL | c.2494G>A (p.Asp832Asn) c.2379+2829G>A (n.2379+2829G>A) c.2392G>A (p.Asp798Asn) | |
| 14 | g.50905443T>A | CA486372232 | PYGL | c.2493A>T (p.Ser831=) c.2379+2828A>T (n.2379+2828A>T) c.2391A>T (p.Ser797=) | |
| 14 | g.50905443T>C | CA486372233 | PYGL | c.2493A>G (p.Ser831=) c.2379+2828A>G (n.2379+2828A>G) c.2391A>G (p.Ser797=) | |
| 14 | g.50905443T>G | CA486372235 | PYGL | c.2493A>C (p.Ser831=) c.2379+2828A>C (n.2379+2828A>C) c.2391A>C (p.Ser797=) | gnomAD v4 COSMIC |
| 14 | g.50905444G>A | CA389678857 | PYGL | c.2492C>T (p.Ser831Leu) c.2379+2827C>T (n.2379+2827C>T) c.2390C>T (p.Ser797Leu) | |
| 14 | g.50905444G>C | CA389678860 | PYGL | c.2492C>G (p.Ser831Ter) c.2379+2827C>G (n.2379+2827C>G) c.2390C>G (p.Ser797Ter) | |
| 14 | g.50905444G>T | CA389678863 | PYGL | c.2492C>A (p.Ser831Ter) c.2379+2827C>A (n.2379+2827C>A) c.2390C>A (p.Ser797Ter) | |
| 14 | g.50905445A>C | CA389678865 | PYGL | c.2491T>G (p.Ser831Ala) c.2379+2826T>G (n.2379+2826T>G) c.2389T>G (p.Ser797Ala) | |
| 14 | g.50905445A>G | CA389678867 | PYGL | c.2491T>C (p.Ser831Pro) c.2379+2826T>C (n.2379+2826T>C) c.2389T>C (p.Ser797Pro) | |
| 14 | g.50905445A>T | CA389678869 | PYGL | c.2491T>A (p.Ser831Thr) c.2379+2826T>A (n.2379+2826T>A) c.2389T>A (p.Ser797Thr) | |
| 14 | g.50905446A= | CA2136411213 | PYGL | c.2490T= (p.Pro830=) c.2379+2825T= (n.2379+2825T=) c.2388T= (p.Pro796=) | |
| 14 | g.50905446A>C | CA486372246 | PYGL | c.2490T>G (p.Pro830=) c.2379+2825T>G (n.2379+2825T>G) c.2388T>G (p.Pro796=) | |
| 14 | g.50905446A>G | CA486372249 | PYGL | c.2490T>C (p.Pro830=) c.2379+2825T>C (n.2379+2825T>C) c.2388T>C (p.Pro796=) | gnomAD v4 |
| 14 | g.50905446A>T | CA486372253 | PYGL | c.2490T>A (p.Pro830=) c.2379+2825T>A (n.2379+2825T>A) c.2388T>A (p.Pro796=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905447G>A | CA389678872 | PYGL | c.2489C>T (p.Pro830Leu) c.2379+2824C>T (n.2379+2824C>T) c.2387C>T (p.Pro796Leu) | |
| 14 | g.50905447G>C | CA389678875 | PYGL | c.2489C>G (p.Pro830Arg) c.2379+2824C>G (n.2379+2824C>G) c.2387C>G (p.Pro796Arg) | |
| 14 | g.50905447G>T | CA389678876 | PYGL | c.2489C>A (p.Pro830His) c.2379+2824C>A (n.2379+2824C>A) c.2387C>A (p.Pro796His) | |
| 14 | g.50905448G>A | CA389678880 | PYGL | c.2488C>T (p.Pro830Ser) c.2379+2823C>T (n.2379+2823C>T) c.2386C>T (p.Pro796Ser) | dbSNP |
| 14 | g.50905448G>C | CA389678883 | PYGL | c.2488C>G (p.Pro830Ala) c.2379+2823C>G (n.2379+2823C>G) c.2386C>G (p.Pro796Ala) | |
| 14 | g.50905448G= | CA2136411217 | PYGL | c.2488C= (p.Pro830=) c.2379+2823C= (n.2379+2823C=) c.2386C= (p.Pro796=) | |
| 14 | g.50905448G>T | CA7183090 | PYGL | c.2488C>A (p.Pro830Thr) c.2379+2823C>A (n.2379+2823C>A) c.2386C>A (p.Pro796Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905449T>A | CA389678891 | PYGL | c.2487A>T (p.Glu829Asp) c.2379+2822A>T (n.2379+2822A>T) c.2385A>T (p.Glu795Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905449T>C | CA486372268 | PYGL | c.2487A>G (p.Glu829=) c.2379+2822A>G (n.2379+2822A>G) c.2385A>G (p.Glu795=) | |
| 14 | g.50905449T>G | CA389678892 | PYGL | c.2487A>C (p.Glu829Asp) c.2379+2822A>C (n.2379+2822A>C) c.2385A>C (p.Glu795Asp) | |
| 14 | g.50905449T= | CA2136411221 | PYGL | c.2487A= (p.Glu829=) c.2379+2822A= (n.2379+2822A=) c.2385A= (p.Glu795=) | |
| 14 | g.50905450T>A | CA389678896 | PYGL | c.2486A>T (p.Glu829Val) c.2379+2821A>T (n.2379+2821A>T) c.2384A>T (p.Glu795Val) | |
| 14 | g.50905450T>C | CA389678897 | PYGL | c.2486A>G (p.Glu829Gly) c.2379+2821A>G (n.2379+2821A>G) c.2384A>G (p.Glu795Gly) | |
| 14 | g.50905450T>G | CA389678900 | PYGL | c.2486A>C (p.Glu829Ala) c.2379+2821A>C (n.2379+2821A>C) c.2384A>C (p.Glu795Ala) | |
| 14 | g.50905450_50905453delinsTCCA | CA2136411223 | PYGL | c.2483_2486delinsTGGA (p.Val828=) c.2379+2818_2379+2821delinsTGGA (n.2379+2818_2379+2821delinsTGGA) c.2381_2384delinsTGGA (p.Val794=) | |
| 14 | g.50905451C>A | CA389678902 | PYGL | c.2485G>T (p.Glu829Ter) c.2379+2820G>T (n.2379+2820G>T) c.2383G>T (p.Glu795Ter) | |
| 14 | g.50905451C>G | CA389678904 | PYGL | c.2485G>C (p.Glu829Gln) c.2379+2820G>C (n.2379+2820G>C) c.2383G>C (p.Glu795Gln) | |
| 14 | g.50905451C>T | CA389678906 | PYGL | c.2485G>A (p.Glu829Lys) c.2379+2820G>A (n.2379+2820G>A) c.2383G>A (p.Glu795Lys) | COSMIC |
| 14 | g.50905452_50905454del | CA2136411226 | PYGL | c.2483_2485del (p.Val828del) c.2379+2818_2379+2820del (n.2379+2818_2379+2820del) c.2381_2383del (p.Val794del) | dbSNP gnomAD v4 |
| 14 | g.50905452C>A | CA486372286 | PYGL | c.2484G>T (p.Val828=) c.2379+2819G>T (n.2379+2819G>T) c.2382G>T (p.Val794=) | |
| 14 | g.50905452C>G | CA486372287 | PYGL | c.2484G>C (p.Val828=) c.2379+2819G>C (n.2379+2819G>C) c.2382G>C (p.Val794=) | |
| 14 | g.50905452C>T | CA486372289 | PYGL | c.2484G>A (p.Val828=) c.2379+2819G>A (n.2379+2819G>A) c.2382G>A (p.Val794=) | |
| 14 | g.50905453A>C | CA389678908 | PYGL | c.2483T>G (p.Val828Gly) c.2379+2818T>G (n.2379+2818T>G) c.2381T>G (p.Val794Gly) | ClinVar |
| 14 | g.50905453A>G | CA389678910 | PYGL | c.2483T>C (p.Val828Ala) c.2379+2818T>C (n.2379+2818T>C) c.2381T>C (p.Val794Ala) | |
| 14 | g.50905453A>T | CA389678911 | PYGL | c.2483T>A (p.Val828Glu) c.2379+2818T>A (n.2379+2818T>A) c.2381T>A (p.Val794Glu) | |
| 14 | g.50905454C>A | CA389678913 | PYGL | c.2482G>T (p.Val828Leu) c.2379+2817G>T (n.2379+2817G>T) c.2380G>T (p.Val794Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905454C= | CA2136411229 | PYGL | c.2482G= (p.Val828=) c.2379+2817G= (n.2379+2817G=) c.2380G= (p.Val794=) | |
| 14 | g.50905454C>G | CA389678915 | PYGL | c.2482G>C (p.Val828Leu) c.2379+2817G>C (n.2379+2817G>C) c.2380G>C (p.Val794Leu) | gnomAD v4 |
| 14 | g.50905454C>T | CA260818828 | PYGL | c.2482G>A (p.Val828Met) c.2379+2817G>A (n.2379+2817G>A) c.2380G>A (p.Val794Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905455G>A | CA7183091 | PYGL | c.2481C>T (p.Asn827=) c.2379+2816C>T (n.2379+2816C>T) c.2379C>T (p.Asn793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50905455G>C | CA389678917 | PYGL | c.2481C>G (p.Asn827Lys) c.2379+2816C>G (n.2379+2816C>G) c.2379C>G (p.Asn793Lys) | |
| 14 | g.50905455G= | CA2136411232 | PYGL | c.2481C= (p.Asn827=) c.2379+2816C= (n.2379+2816C=) c.2379C= (p.Asn793=) | |
| 14 | g.50905455G>T | CA389678919 | PYGL | c.2481C>A (p.Asn827Lys) c.2379+2816C>A (n.2379+2816C>A) c.2379C>A (p.Asn793Lys) | |
| 14 | g.50905456T>A | CA389678921 | PYGL | c.2480A>T (p.Asn827Ile) c.2379+2815A>T (n.2379+2815A>T) c.2378A>T (p.Asn793Ile) | |
| 14 | g.50905456T>C | CA389678922 | PYGL | c.2480A>G (p.Asn827Ser) c.2379+2815A>G (n.2379+2815A>G) c.2378A>G (p.Asn793Ser) | dbSNP |
| 14 | g.50905456T>G | CA389678924 | PYGL | c.2480A>C (p.Asn827Thr) c.2379+2815A>C (n.2379+2815A>C) c.2378A>C (p.Asn793Thr) | |
| 14 | g.50905457T>A | CA389678926 | PYGL | c.2479A>T (p.Asn827Tyr) c.2379+2814A>T (n.2379+2814A>T) c.2377A>T (p.Asn793Tyr) | |
| 14 | g.50905457T>C | CA389678928 | PYGL | c.2479A>G (p.Asn827Asp) c.2379+2814A>G (n.2379+2814A>G) c.2377A>G (p.Asn793Asp) | COSMIC |
| 14 | g.50905457T>G | CA389678929 | PYGL | c.2479A>C (p.Asn827His) c.2379+2814A>C (n.2379+2814A>C) c.2377A>C (p.Asn793His) | |
| 14 | g.50905458C>A | CA389678931 | PYGL | c.2478G>T (p.Trp826Cys) c.2379+2813G>T (n.2379+2813G>T) c.2376G>T (p.Trp792Cys) | |
| 14 | g.50905458C= | CA2136411238 | PYGL | c.2478G= (p.Trp826=) c.2379+2813G= (n.2379+2813G=) c.2376G= (p.Trp792=) | |
| 14 | g.50905458C>G | CA389678932 | PYGL | c.2478G>C (p.Trp826Cys) c.2379+2813G>C (n.2379+2813G>C) c.2376G>C (p.Trp792Cys) | |
| 14 | g.50905458C>T | CA389678933 | PYGL | c.2478G>A (p.Trp826Ter) c.2379+2813G>A (n.2379+2813G>A) c.2376G>A (p.Trp792Ter) | dbSNP |
| 14 | g.50905459C>A | CA389678935 | PYGL | c.2477G>T (p.Trp826Leu) c.2379+2812G>T (n.2379+2812G>T) c.2375G>T (p.Trp792Leu) | |
| 14 | g.50905459C= | CA2136411241 | PYGL | c.2477G= (p.Trp826=) c.2379+2812G= (n.2379+2812G=) c.2375G= (p.Trp792=) | |
| 14 | g.50905459C>G | CA389678936 | PYGL | c.2477G>C (p.Trp826Ser) c.2379+2812G>C (n.2379+2812G>C) c.2375G>C (p.Trp792Ser) | |
| 14 | g.50905459C>T | CA7183092 | PYGL | c.2477G>A (p.Trp826Ter) c.2379+2812G>A (n.2379+2812G>A) c.2375G>A (p.Trp792Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50905460A>C | CA389678942 | PYGL | c.2476T>G (p.Trp826Gly) c.2379+2811T>G (n.2379+2811T>G) c.2374T>G (p.Trp792Gly) | |
| 14 | g.50905460A>G | CA389678940 | PYGL | c.2476T>C (p.Trp826Arg) c.2379+2811T>C (n.2379+2811T>C) c.2374T>C (p.Trp792Arg) | |
| 14 | g.50905460A>T | CA389678938 | PYGL | c.2476T>A (p.Trp826Arg) c.2379+2811T>A (n.2379+2811T>A) c.2374T>A (p.Trp792Arg) | |
| 14 | g.50905461G>A | CA486372339 | PYGL | c.2475C>T (p.Ile825=) c.2379+2810C>T (n.2379+2810C>T) c.2373C>T (p.Ile791=) | gnomAD v4 |
| 14 | g.50905461G>C | CA389678943 | PYGL | c.2475C>G (p.Ile825Met) c.2379+2810C>G (n.2379+2810C>G) c.2373C>G (p.Ile791Met) | |
| 14 | g.50905461G= | CA2136411243 | PYGL | c.2475C= (p.Ile825=) c.2379+2810C= (n.2379+2810C=) c.2373C= (p.Ile791=) | |
| 14 | g.50905461G>T | CA486372338 | PYGL | c.2475C>A (p.Ile825=) c.2379+2810C>A (n.2379+2810C>A) c.2373C>A (p.Ile791=) | dbSNP |
| 14 | g.50905462A>C | CA389678946 | PYGL | c.2474T>G (p.Ile825Ser) c.2379+2809T>G (n.2379+2809T>G) c.2372T>G (p.Ile791Ser) | |
| 14 | g.50905462A>G | CA389678947 | PYGL | c.2474T>C (p.Ile825Thr) c.2379+2809T>C (n.2379+2809T>C) c.2372T>C (p.Ile791Thr) | |
| 14 | g.50905462A>T | CA389678949 | PYGL | c.2474T>A (p.Ile825Asn) c.2379+2809T>A (n.2379+2809T>A) c.2372T>A (p.Ile791Asn) | |
| 14 | g.50905463T>A | CA389678950 | PYGL | c.2473A>T (p.Ile825Phe) c.2379+2808A>T (n.2379+2808A>T) c.2371A>T (p.Ile791Phe) | gnomAD v4 |
| 14 | g.50905463T>C | CA389678952 | PYGL | c.2473A>G (p.Ile825Val) c.2379+2808A>G (n.2379+2808A>G) c.2371A>G (p.Ile791Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905463T>G | CA389678954 | PYGL | c.2473A>C (p.Ile825Leu) c.2379+2808A>C (n.2379+2808A>C) c.2371A>C (p.Ile791Leu) | |
| 14 | g.50905463T= | CA2136411246 | PYGL | c.2473A= (p.Ile825=) c.2379+2808A= (n.2379+2808A=) c.2371A= (p.Ile791=) | |
| 14 | g.50905464G>A | CA7183093 | PYGL | c.2472C>T (p.Asn824=) c.2379+2807C>T (n.2379+2807C>T) c.2370C>T (p.Asn790=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50905464G>C | CA389678956 | PYGL | c.2472C>G (p.Asn824Lys) c.2379+2807C>G (n.2379+2807C>G) c.2370C>G (p.Asn790Lys) | |
| 14 | g.50905464G= | CA2136411249 | PYGL | c.2472C= (p.Asn824=) c.2379+2807C= (n.2379+2807C=) c.2370C= (p.Asn790=) | |
| 14 | g.50905464G>T | CA389678958 | PYGL | c.2472C>A (p.Asn824Lys) c.2379+2807C>A (n.2379+2807C>A) c.2370C>A (p.Asn790Lys) | |
| 14 | g.50905465T>A | CA389678960 | PYGL | c.2471A>T (p.Asn824Ile) c.2379+2806A>T (n.2379+2806A>T) c.2369A>T (p.Asn790Ile) | |
| 14 | g.50905465T>C | CA389678961 | PYGL | c.2471A>G (p.Asn824Ser) c.2379+2806A>G (n.2379+2806A>G) c.2369A>G (p.Asn790Ser) | gnomAD v4 |
| 14 | g.50905465T>G | CA389678963 | PYGL | c.2471A>C (p.Asn824Thr) c.2379+2806A>C (n.2379+2806A>C) c.2369A>C (p.Asn790Thr) | |
| 14 | g.50905466T>A | CA389678967 | PYGL | c.2470A>T (p.Asn824Tyr) c.2379+2805A>T (n.2379+2805A>T) c.2368A>T (p.Asn790Tyr) | |
| 14 | g.50905466T>C | CA389678968 | PYGL | c.2470A>G (p.Asn824Asp) c.2379+2805A>G (n.2379+2805A>G) c.2368A>G (p.Asn790Asp) | |
| 14 | g.50905466T>G | CA389678965 | PYGL | c.2470A>C (p.Asn824His) c.2379+2805A>C (n.2379+2805A>C) c.2368A>C (p.Asn790His) | |
| 14 | g.50905467T>A | CA389678970 | PYGL | c.2469A>T (p.Gln823His) c.2379+2804A>T (n.2379+2804A>T) c.2367A>T (p.Gln789His) | |
| 14 | g.50905467T>C | CA486372368 | PYGL | c.2469A>G (p.Gln823=) c.2379+2804A>G (n.2379+2804A>G) c.2367A>G (p.Gln789=) | gnomAD v4 |
| 14 | g.50905467T>G | CA389678972 | PYGL | c.2469A>C (p.Gln823His) c.2379+2804A>C (n.2379+2804A>C) c.2367A>C (p.Gln789His) | gnomAD v4 |
| 14 | g.50905468T>A | CA389678974 | PYGL | c.2468A>T (p.Gln823Leu) c.2379+2803A>T (n.2379+2803A>T) c.2366A>T (p.Gln789Leu) | |
| 14 | g.50905468T>C | CA389678977 | PYGL | c.2468A>G (p.Gln823Arg) c.2379+2803A>G (n.2379+2803A>G) c.2366A>G (p.Gln789Arg) | dbSNP gnomAD v4 |
| 14 | g.50905468T>G | CA389678975 | PYGL | c.2468A>C (p.Gln823Pro) c.2379+2803A>C (n.2379+2803A>C) c.2366A>C (p.Gln789Pro) | |
| 14 | g.50905468T= | CA2136411254 | PYGL | c.2468A= (p.Gln823=) c.2379+2803A= (n.2379+2803A=) c.2366A= (p.Gln789=) | |
| 14 | g.50905469G>A | CA7183094 | PYGL | c.2467C>T (p.Gln823Ter) c.2379+2802C>T (n.2379+2802C>T) c.2365C>T (p.Gln789Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905469G>C | CA389678979 | PYGL | c.2467C>G (p.Gln823Glu) c.2379+2802C>G (n.2379+2802C>G) c.2365C>G (p.Gln789Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905469G= | CA2136411257 | PYGL | c.2467C= (p.Gln823=) c.2379+2802C= (n.2379+2802C=) c.2365C= (p.Gln789=) | |
| 14 | g.50905469G>T | CA389678980 | PYGL | c.2467C>A (p.Gln823Lys) c.2379+2802C>A (n.2379+2802C>A) c.2365C>A (p.Gln789Lys) | |
| 14 | g.50905470G>A | CA486372382 | PYGL | c.2466C>T (p.Ala822=) c.2379+2801C>T (n.2379+2801C>T) c.2364C>T (p.Ala788=) | |
| 14 | g.50905470G>C | CA486372380 | PYGL | c.2466C>G (p.Ala822=) c.2379+2801C>G (n.2379+2801C>G) c.2364C>G (p.Ala788=) | |
| 14 | g.50905470G>T | CA486372377 | PYGL | c.2466C>A (p.Ala822=) c.2379+2801C>A (n.2379+2801C>A) c.2364C>A (p.Ala788=) | |
| 14 | g.50905471G>A | CA389678982 | PYGL | c.2465C>T (p.Ala822Val) c.2379+2800C>T (n.2379+2800C>T) c.2363C>T (p.Ala788Val) | |
| 14 | g.50905471G>C | CA389678983 | PYGL | c.2465C>G (p.Ala822Gly) c.2379+2800C>G (n.2379+2800C>G) c.2363C>G (p.Ala788Gly) | |
| 14 | g.50905471G>T | CA389678984 | PYGL | c.2465C>A (p.Ala822Asp) c.2379+2800C>A (n.2379+2800C>A) c.2363C>A (p.Ala788Asp) | |
| 14 | g.50905472C>A | CA389678985 | PYGL | c.2464G>T (p.Ala822Ser) c.2379+2799G>T (n.2379+2799G>T) c.2362G>T (p.Ala788Ser) | |
| 14 | g.50905472C>G | CA389678987 | PYGL | c.2464G>C (p.Ala822Pro) c.2379+2799G>C (n.2379+2799G>C) c.2362G>C (p.Ala788Pro) | |
| 14 | g.50905472C>T | CA389678988 | PYGL | c.2464G>A (p.Ala822Thr) c.2379+2799G>A (n.2379+2799G>A) c.2362G>A (p.Ala788Thr) | |
| 14 | g.50905473A= | CA2136411263 | PYGL | c.2463T= (p.Tyr821=) c.2379+2798T= (n.2379+2798T=) c.2361T= (p.Tyr787=) | |
| 14 | g.50905473A>C | CA7183095 | PYGL | c.2463T>G (p.Tyr821Ter) c.2379+2798T>G (n.2379+2798T>G) c.2361T>G (p.Tyr787Ter) | dbSNP ExAC |
| 14 | g.50905473A>G | CA486372398 | PYGL | c.2463T>C (p.Tyr821=) c.2379+2798T>C (n.2379+2798T>C) c.2361T>C (p.Tyr787=) | |
| 14 | g.50905473A>T | CA389678991 | PYGL | c.2463T>A (p.Tyr821Ter) c.2379+2798T>A (n.2379+2798T>A) c.2361T>A (p.Tyr787Ter) | |
| 14 | g.50905474T>A | CA389678996 | PYGL | c.2462A>T (p.Tyr821Phe) c.2379+2797A>T (n.2379+2797A>T) c.2360A>T (p.Tyr787Phe) | COSMIC |
| 14 | g.50905474T>C | CA389678992 | PYGL | c.2462A>G (p.Tyr821Cys) c.2379+2797A>G (n.2379+2797A>G) c.2360A>G (p.Tyr787Cys) | |
| 14 | g.50905474T>G | CA389678994 | PYGL | c.2462A>C (p.Tyr821Ser) c.2379+2797A>C (n.2379+2797A>C) c.2360A>C (p.Tyr787Ser) | |
| 14 | g.50905475A= | CA2136411266 | PYGL | c.2461T= (p.Tyr821=) c.2379+2796T= (n.2379+2796T=) c.2359T= (p.Tyr787=) | |
| 14 | g.50905475A>C | CA389678997 | PYGL | c.2461T>G (p.Tyr821Asp) c.2379+2796T>G (n.2379+2796T>G) c.2359T>G (p.Tyr787Asp) | |
| 14 | g.50905475A>G | CA341920 | PYGL | c.2461T>C (p.Tyr821His) c.2379+2796T>C (n.2379+2796T>C) c.2359T>C (p.Tyr787His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905475A>T | CA389679000 | PYGL | c.2461T>A (p.Tyr821Asn) c.2379+2796T>A (n.2379+2796T>A) c.2359T>A (p.Tyr787Asn) | |
| 14 | g.50905476T>A | CA389679002 | PYGL | c.2460A>T (p.Glu820Asp) c.2379+2795A>T (n.2379+2795A>T) c.2358A>T (p.Glu786Asp) | |
| 14 | g.50905476T>C | CA486372411 | PYGL | c.2460A>G (p.Glu820=) c.2379+2795A>G (n.2379+2795A>G) c.2358A>G (p.Glu786=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905476T>G | CA389679003 | PYGL | c.2460A>C (p.Glu820Asp) c.2379+2795A>C (n.2379+2795A>C) c.2358A>C (p.Glu786Asp) | |
| 14 | g.50905476T= | CA2136411269 | PYGL | c.2460A= (p.Glu820=) c.2379+2795A= (n.2379+2795A=) c.2358A= (p.Glu786=) | |
| 14 | g.50905477T>A | CA389679005 | PYGL | c.2459A>T (p.Glu820Val) c.2379+2794A>T (n.2379+2794A>T) c.2357A>T (p.Glu786Val) | |
| 14 | g.50905477T>C | CA389679007 | PYGL | c.2459A>G (p.Glu820Gly) c.2379+2794A>G (n.2379+2794A>G) c.2357A>G (p.Glu786Gly) | |
| 14 | g.50905477T>G | CA389679008 | PYGL | c.2459A>C (p.Glu820Ala) c.2379+2794A>C (n.2379+2794A>C) c.2357A>C (p.Glu786Ala) | |
| 14 | g.50905478C>A | CA389679010 | PYGL | c.2458G>T (p.Glu820Ter) c.2379+2793G>T (n.2379+2793G>T) c.2356G>T (p.Glu786Ter) | |
| 14 | g.50905478C= | CA2136411272 | PYGL | c.2458G= (p.Glu820=) c.2379+2793G= (n.2379+2793G=) c.2356G= (p.Glu786=) | |
| 14 | g.50905478C>G | CA389679011 | PYGL | c.2458G>C (p.Glu820Gln) c.2379+2793G>C (n.2379+2793G>C) c.2356G>C (p.Glu786Gln) | |
| 14 | g.50905478C>T | CA389679013 | PYGL | c.2458G>A (p.Glu820Lys) c.2379+2793G>A (n.2379+2793G>A) c.2356G>A (p.Glu786Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905479T>A | CA389679015 | PYGL | c.2457A>T (p.Lys819Asn) c.2379+2792A>T (n.2379+2792A>T) c.2355A>T (p.Lys785Asn) | |
| 14 | g.50905479T>C | CA486372418 | PYGL | c.2457A>G (p.Lys819=) c.2379+2792A>G (n.2379+2792A>G) c.2355A>G (p.Lys785=) | |
| 14 | g.50905479T>G | CA389679016 | PYGL | c.2457A>C (p.Lys819Asn) c.2379+2792A>C (n.2379+2792A>C) c.2355A>C (p.Lys785Asn) | |
| 14 | g.50905480T>A | CA389679018 | PYGL | c.2456A>T (p.Lys819Ile) c.2379+2791A>T (n.2379+2791A>T) c.2354A>T (p.Lys785Ile) | |
| 14 | g.50905480T>C | CA389679020 | PYGL | c.2456A>G (p.Lys819Arg) c.2379+2791A>G (n.2379+2791A>G) c.2354A>G (p.Lys785Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905480T>G | CA389679021 | PYGL | c.2456A>C (p.Lys819Thr) c.2379+2791A>C (n.2379+2791A>C) c.2354A>C (p.Lys785Thr) | |
| 14 | g.50905480T= | CA2136411273 | PYGL | c.2456A= (p.Lys819=) c.2379+2791A= (n.2379+2791A=) c.2354A= (p.Lys785=) | |
| 14 | g.50905481T>A | CA389679022 | PYGL | c.2455A>T (p.Lys819Ter) c.2379+2790A>T (n.2379+2790A>T) c.2353A>T (p.Lys785Ter) | COSMIC |
| 14 | g.50905481T>C | CA389679023 | PYGL | c.2455A>G (p.Lys819Glu) c.2379+2790A>G (n.2379+2790A>G) c.2353A>G (p.Lys785Glu) | dbSNP gnomAD v4 |
| 14 | g.50905481T>G | CA389679024 | PYGL | c.2455A>C (p.Lys819Gln) c.2379+2790A>C (n.2379+2790A>C) c.2353A>C (p.Lys785Gln) | |
| 14 | g.50905482A= | CA2136411277 | PYGL | c.2454T= (p.Ile818=) c.2379+2789T= (n.2379+2789T=) c.2352T= (p.Ile784=) | |
| 14 | g.50905482A>C | CA389679026 | PYGL | c.2454T>G (p.Ile818Met) c.2379+2789T>G (n.2379+2789T>G) c.2352T>G (p.Ile784Met) | |
| 14 | g.50905482A>G | CA7183096 | PYGL | c.2454T>C (p.Ile818=) c.2379+2789T>C (n.2379+2789T>C) c.2352T>C (p.Ile784=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905482A>T | CA486372432 | PYGL | c.2454T>A (p.Ile818=) c.2379+2789T>A (n.2379+2789T>A) c.2352T>A (p.Ile784=) | |
| 14 | g.50905483A>C | CA389679029 | PYGL | c.2453T>G (p.Ile818Ser) c.2379+2788T>G (n.2379+2788T>G) c.2351T>G (p.Ile784Ser) | |
| 14 | g.50905483A>G | CA389679030 | PYGL | c.2453T>C (p.Ile818Thr) c.2379+2788T>C (n.2379+2788T>C) c.2351T>C (p.Ile784Thr) | gnomAD v4 |
| 14 | g.50905483A>T | CA389679032 | PYGL | c.2453T>A (p.Ile818Asn) c.2379+2788T>A (n.2379+2788T>A) c.2351T>A (p.Ile784Asn) | |
| 14 | g.50905484T>A | CA389679036 | PYGL | c.2452A>T (p.Ile818Phe) c.2379+2787A>T (n.2379+2787A>T) c.2350A>T (p.Ile784Phe) | |
| 14 | g.50905484T>C | CA260818852 | PYGL | c.2452A>G (p.Ile818Val) c.2379+2787A>G (n.2379+2787A>G) c.2350A>G (p.Ile784Val) | dbSNP |
| 14 | g.50905484T>G | CA389679034 | PYGL | c.2452A>C (p.Ile818Leu) c.2379+2787A>C (n.2379+2787A>C) c.2350A>C (p.Ile784Leu) | |
| 14 | g.50905484T= | CA2136411281 | PYGL | c.2452A= (p.Ile818=) c.2379+2787A= (n.2379+2787A=) c.2350A= (p.Ile784=) | |
| 14 | g.50905486_50905488del | CA486372445 | PYGL | c.2450_2452del (p.Thr817del) c.2379+2785_2379+2787del (n.2379+2785_2379+2787del) c.2348_2350del (p.Thr783del) | |
| 14 | g.50905485T>A | CA486372447 | PYGL | c.2451A>T (p.Thr817=) c.2379+2786A>T (n.2379+2786A>T) c.2349A>T (p.Thr783=) | |
| 14 | g.50905485T>C | CA486372449 | PYGL | c.2451A>G (p.Thr817=) c.2379+2786A>G (n.2379+2786A>G) c.2349A>G (p.Thr783=) | |
| 14 | g.50905485T>G | CA486372451 | PYGL | c.2451A>C (p.Thr817=) c.2379+2786A>C (n.2379+2786A>C) c.2349A>C (p.Thr783=) | |
| 14 | g.50905486G>A | CA389679038 | PYGL | c.2450C>T (p.Thr817Ile) c.2379+2785C>T (n.2379+2785C>T) c.2348C>T (p.Thr783Ile) | |
| 14 | g.50905486G>C | CA389679040 | PYGL | c.2450C>G (p.Thr817Arg) c.2379+2785C>G (n.2379+2785C>G) c.2348C>G (p.Thr783Arg) | |
| 14 | g.50905486G>T | CA389679041 | PYGL | c.2450C>A (p.Thr817Lys) c.2379+2785C>A (n.2379+2785C>A) c.2348C>A (p.Thr783Lys) | gnomAD v4 |
| 14 | g.50905487T>A | CA389679043 | PYGL | c.2449A>T (p.Thr817Ser) c.2379+2784A>T (n.2379+2784A>T) c.2347A>T (p.Thr783Ser) | |
| 14 | g.50905487T>C | CA389679045 | PYGL | c.2449A>G (p.Thr817Ala) c.2379+2784A>G (n.2379+2784A>G) c.2347A>G (p.Thr783Ala) | |
| 14 | g.50905487T>G | CA260818856 | PYGL | c.2449A>C (p.Thr817Pro) c.2379+2784A>C (n.2379+2784A>C) c.2347A>C (p.Thr783Pro) | dbSNP gnomAD v4 |
| 14 | g.50905487T= | CA2136411286 | PYGL | c.2449A= (p.Thr817=) c.2379+2784A= (n.2379+2784A=) c.2347A= (p.Thr783=) | |
| 14 | g.50905488T>A | CA486372464 | PYGL | c.2448A>T (p.Arg816=) c.2379+2783A>T (n.2379+2783A>T) c.2346A>T (p.Arg782=) | |
| 14 | g.50905488T>C | CA486372465 | PYGL | c.2448A>G (p.Arg816=) c.2379+2783A>G (n.2379+2783A>G) c.2346A>G (p.Arg782=) | |
| 14 | g.50905488T>G | CA486372463 | PYGL | c.2448A>C (p.Arg816=) c.2379+2783A>C (n.2379+2783A>C) c.2346A>C (p.Arg782=) |