| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.156344579_156344584del | CA2532816334 | SGCD | c.94_99del (p.Lys32_Arg33del) c.91_96del (p.Lys31_Arg32del) n.254+2869_254+2874del | |
| 5 | g.156344582C>A | CA447387407 | SGCD | c.97C>A (p.Arg33=) c.94C>A (p.Arg32=) n.254+2871G>T | gnomAD v4 |
| 5 | g.156344582C= | CA1593661202 | SGCD | c.97C= (p.Arg33=) c.94C= (p.Arg32=) n.254+2871G= | |
| 5 | g.156344582C>G | CA362007685 | SGCD | c.97C>G (p.Arg33Gly) c.94C>G (p.Arg32Gly) n.254+2871G>C | |
| 5 | g.156344582C>T | CA3530488 | SGCD | c.97C>T (p.Arg33Ter) c.94C>T (p.Arg32Ter) n.254+2871G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344583G>A | CA362007686 | SGCD | c.98G>A (p.Arg33Gln) c.95G>A (p.Arg32Gln) n.254+2870C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344583G>C | CA362007687 | SGCD | c.98G>C (p.Arg33Pro) c.95G>C (p.Arg32Pro) n.254+2870C>G | |
| 5 | g.156344583G= | CA1593661203 | SGCD | c.98G= (p.Arg33=) c.95G= (p.Arg32=) n.254+2870C= | |
| 5 | g.156344583G>T | CA362007688 | SGCD | c.98G>T (p.Arg33Leu) c.95G>T (p.Arg32Leu) n.254+2870C>A | |
| 5 | g.156344584A= | CA1593661204 | SGCD | c.99A= (p.Arg33=) c.96A= (p.Arg32=) n.254+2869T= | |
| 5 | g.156344584A>C | CA447387408 | SGCD | c.99A>C (p.Arg33=) c.96A>C (p.Arg32=) n.254+2869T>G | ClinVar |
| 5 | g.156344584A>G | CA447387409 | SGCD | c.99A>G (p.Arg33=) c.96A>G (p.Arg32=) n.254+2869T>C | |
| 5 | g.156344584A>T | CA3530489 | SGCD | c.99A>T (p.Arg33=) c.96A>T (p.Arg32=) n.254+2869T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344585T>A | CA362007691 | SGCD | c.100T>A (p.Cys34Ser) c.97T>A (p.Cys33Ser) n.254+2868A>T | |
| 5 | g.156344585T>C | CA362007689 | SGCD | c.100T>C (p.Cys34Arg) c.97T>C (p.Cys33Arg) n.254+2868A>G | |
| 5 | g.156344585T>G | CA362007690 | SGCD | c.100T>G (p.Cys34Gly) c.97T>G (p.Cys33Gly) n.254+2868A>C | |
| 5 | g.156344586G>A | CA362007692 | SGCD | c.101G>A (p.Cys34Tyr) c.98G>A (p.Cys33Tyr) n.254+2867C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344586G>C | CA3530490 | SGCD | c.101G>C (p.Cys34Ser) c.98G>C (p.Cys33Ser) n.254+2867C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344586G= | CA1593661205 | SGCD | c.101G= (p.Cys34=) c.98G= (p.Cys33=) n.254+2867C= | |
| 5 | g.156344586G>T | CA362007693 | SGCD | c.101G>T (p.Cys34Phe) c.98G>T (p.Cys33Phe) n.254+2867C>A | COSMIC |
| 5 | g.156344587C>A | CA362007694 | SGCD | c.102C>A (p.Cys34Ter) c.99C>A (p.Cys33Ter) n.254+2866G>T | |
| 5 | g.156344587C>G | CA362007695 | SGCD | c.102C>G (p.Cys34Trp) c.99C>G (p.Cys33Trp) n.254+2866G>C | |
| 5 | g.156344587C>T | CA447387410 | SGCD | c.102C>T (p.Cys34=) c.99C>T (p.Cys33=) n.254+2866G>A | |
| 5 | g.156344588C>A | CA362007696 | SGCD | c.103C>A (p.Leu35Met) c.100C>A (p.Leu34Met) n.254+2865G>T | |
| 5 | g.156344588C>G | CA362007697 | SGCD | c.103C>G (p.Leu35Val) c.100C>G (p.Leu34Val) n.254+2865G>C | |
| 5 | g.156344588C>T | CA447387412 | SGCD | c.103C>T (p.Leu35=) c.100C>T (p.Leu34=) n.254+2865G>A | gnomAD v4 |
| 5 | g.156344589T>A | CA362007699 | SGCD | c.104T>A (p.Leu35Gln) c.101T>A (p.Leu34Gln) n.254+2864A>T | |
| 5 | g.156344589T>C | CA130594219 | SGCD | c.104T>C (p.Leu35Pro) c.101T>C (p.Leu34Pro) n.254+2864A>G | ClinVar dbSNP |
| 5 | g.156344589T>G | CA362007698 | SGCD | c.104T>G (p.Leu35Arg) c.101T>G (p.Leu34Arg) n.254+2864A>C | |
| 5 | g.156344589T= | CA1593661206 | SGCD | c.104T= (p.Leu35=) c.101T= (p.Leu34=) n.254+2864A= | |
| 5 | g.156344590G>A | CA447387413 | SGCD | c.105G>A (p.Leu35=) c.102G>A (p.Leu34=) n.254+2863C>T | gnomAD v4 |
| 5 | g.156344590G>C | CA180929 | SGCD | c.105G>C (p.Leu35=) c.102G>C (p.Leu34=) n.254+2863C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344590G= | CA1593661207 | SGCD | c.105G= (p.Leu35=) c.102G= (p.Leu34=) n.254+2863C= | |
| 5 | g.156344590G>T | CA3530491 | SGCD | c.105G>T (p.Leu35=) c.102G>T (p.Leu34=) n.254+2863C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344591T>A | CA362007700 | SGCD | c.106T>A (p.Tyr36Asn) c.103T>A (p.Tyr35Asn) n.254+2862A>T | |
| 5 | g.156344591T>C | CA362007701 | SGCD | c.106T>C (p.Tyr36His) c.103T>C (p.Tyr35His) n.254+2862A>G | gnomAD v4 |
| 5 | g.156344591T>G | CA362007702 | SGCD | c.106T>G (p.Tyr36Asp) c.103T>G (p.Tyr35Asp) n.254+2862A>C | |
| 5 | g.156344592A>C | CA362007703 | SGCD | c.107A>C (p.Tyr36Ser) c.104A>C (p.Tyr35Ser) n.254+2861T>G | |
| 5 | g.156344592A>G | CA362007704 | SGCD | c.107A>G (p.Tyr36Cys) c.104A>G (p.Tyr35Cys) n.254+2861T>C | gnomAD v4 |
| 5 | g.156344592A>T | CA362007705 | SGCD | c.107A>T (p.Tyr36Phe) c.104A>T (p.Tyr35Phe) n.254+2861T>A | |
| 5 | g.156344593T>A | CA362007706 | SGCD | c.108T>A (p.Tyr36Ter) c.105T>A (p.Tyr35Ter) n.254+2860A>T | |
| 5 | g.156344593T>C | CA447387414 | SGCD | c.108T>C (p.Tyr36=) c.105T>C (p.Tyr35=) n.254+2860A>G | gnomAD v4 |
| 5 | g.156344593T>G | CA362007707 | SGCD | c.108T>G (p.Tyr36Ter) c.105T>G (p.Tyr35Ter) n.254+2860A>C | |
| 5 | g.156344593_156344602del | CA2551607716 | SGCD | c.108_117del (p.Phe37CysfsTer4) c.105_114del (p.Phe36CysfsTer4) n.254+2851_254+2860del | |
| 5 | g.156344594T>A | CA362007708 | SGCD | c.109T>A (p.Phe37Ile) c.106T>A (p.Phe36Ile) n.254+2859A>T | gnomAD v4 |
| 5 | g.156344594T>C | CA362007710 | SGCD | c.109T>C (p.Phe37Leu) c.106T>C (p.Phe36Leu) n.254+2859A>G | |
| 5 | g.156344594T>G | CA362007709 | SGCD | c.109T>G (p.Phe37Val) c.106T>G (p.Phe36Val) n.254+2859A>C | |
| 5 | g.156344595T>A | CA362007711 | SGCD | c.110T>A (p.Phe37Tyr) c.107T>A (p.Phe36Tyr) n.254+2858A>T | |
| 5 | g.156344595T>C | CA362007712 | SGCD | c.110T>C (p.Phe37Ser) c.107T>C (p.Phe36Ser) n.254+2858A>G | |
| 5 | g.156344595T>G | CA362007713 | SGCD | c.110T>G (p.Phe37Cys) c.107T>G (p.Phe36Cys) n.254+2858A>C | |
| 5 | g.156344596C>A | CA362007714 | SGCD | c.111C>A (p.Phe37Leu) c.108C>A (p.Phe36Leu) n.254+2857G>T | |
| 5 | g.156344596C>G | CA362007715 | SGCD | c.111C>G (p.Phe37Leu) c.108C>G (p.Phe36Leu) n.254+2857G>C | |
| 5 | g.156344596C>T | CA447387415 | SGCD | c.111C>T (p.Phe37=) c.108C>T (p.Phe36=) n.254+2857G>A | gnomAD v4 |
| 5 | g.156344597T>A | CA362007716 | SGCD | c.112T>A (p.Phe38Ile) c.109T>A (p.Phe37Ile) n.254+2856A>T | |
| 5 | g.156344597T>C | CA130594220 | SGCD | c.112T>C (p.Phe38Leu) c.109T>C (p.Phe37Leu) n.254+2856A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344597T>G | CA362007717 | SGCD | c.112T>G (p.Phe38Val) c.109T>G (p.Phe37Val) n.254+2856A>C | |
| 5 | g.156344597T= | CA1593661208 | SGCD | c.112T= (p.Phe38=) c.109T= (p.Phe37=) n.254+2856A= | |
| 5 | g.156344598T>A | CA362007718 | SGCD | c.113T>A (p.Phe38Tyr) c.110T>A (p.Phe37Tyr) n.254+2855A>T | |
| 5 | g.156344598T>C | CA362007719 | SGCD | c.113T>C (p.Phe38Ser) c.110T>C (p.Phe37Ser) n.254+2855A>G | |
| 5 | g.156344598T>G | CA130594221 | SGCD | c.113T>G (p.Phe38Cys) c.110T>G (p.Phe37Cys) n.254+2855A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344598T= | CA1593661209 | SGCD | c.113T= (p.Phe38=) c.110T= (p.Phe37=) n.254+2855A= | |
| 5 | g.156344599T>A | CA362007721 | SGCD | c.114T>A (p.Phe38Leu) c.111T>A (p.Phe37Leu) n.254+2854A>T | |
| 5 | g.156344599T>C | CA447387416 | SGCD | c.114T>C (p.Phe38=) c.111T>C (p.Phe37=) n.254+2854A>G | |
| 5 | g.156344599T>G | CA362007720 | SGCD | c.114T>G (p.Phe38Leu) c.111T>G (p.Phe37Leu) n.254+2854A>C | |
| 5 | g.156344600G>A | CA362007722 | SGCD | c.115G>A (p.Val39Ile) c.112G>A (p.Val38Ile) n.254+2853C>T | |
| 5 | g.156344600G>C | CA362007723 | SGCD | c.115G>C (p.Val39Leu) c.112G>C (p.Val38Leu) n.254+2853C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344600G= | CA1593661210 | SGCD | c.115G= (p.Val39=) c.112G= (p.Val38=) n.254+2853C= | |
| 5 | g.156344600G>T | CA362007724 | SGCD | c.115G>T (p.Val39Phe) c.112G>T (p.Val38Phe) n.254+2853C>A | |
| 5 | g.156344601T>A | CA362007725 | SGCD | c.116T>A (p.Val39Asp) c.113T>A (p.Val38Asp) n.254+2852A>T | |
| 5 | g.156344601T>C | CA308782 | SGCD | c.116T>C (p.Val39Ala) c.113T>C (p.Val38Ala) n.254+2852A>G | ClinVar dbSNP |
| 5 | g.156344601T>G | CA362007726 | SGCD | c.116T>G (p.Val39Gly) c.113T>G (p.Val38Gly) n.254+2852A>C | |
| 5 | g.156344601T= | CA1593661211 | SGCD | c.116T= (p.Val39=) c.113T= (p.Val38=) n.254+2852A= | |
| 5 | g.156344602C>A | CA447387419 | SGCD | c.117C>A (p.Val39=) c.114C>A (p.Val38=) n.254+2851G>T | |
| 5 | g.156344602C= | CA1593661212 | SGCD | c.117C= (p.Val39=) c.114C= (p.Val38=) n.254+2851G= | |
| 5 | g.156344602C>G | CA447387418 | SGCD | c.117C>G (p.Val39=) c.114C>G (p.Val38=) n.254+2851G>C | |
| 5 | g.156344602C>T | CA447387417 | SGCD | c.117C>T (p.Val39=) c.114C>T (p.Val38=) n.254+2851G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344603C>A | CA362007727 | SGCD | c.118C>A (p.Leu40Met) c.115C>A (p.Leu39Met) n.254+2850G>T | |
| 5 | g.156344603C>G | CA362007728 | SGCD | c.118C>G (p.Leu40Val) c.115C>G (p.Leu39Val) n.254+2850G>C | |
| 5 | g.156344603C>T | CA447387421 | SGCD | c.118C>T (p.Leu40=) c.115C>T (p.Leu39=) n.254+2850G>A | ClinVar gnomAD v4 |
| 5 | g.156344604T>A | CA362007729 | SGCD | c.119T>A (p.Leu40Gln) c.116T>A (p.Leu39Gln) n.254+2849A>T | |
| 5 | g.156344604T>C | CA362007730 | SGCD | c.119T>C (p.Leu40Pro) c.116T>C (p.Leu39Pro) n.254+2849A>G | gnomAD v4 |
| 5 | g.156344604T>G | CA362007731 | SGCD | c.119T>G (p.Leu40Arg) c.116T>G (p.Leu39Arg) n.254+2849A>C | dbSNP gnomAD v2 |
| 5 | g.156344604T= | CA1593661213 | SGCD | c.119T= (p.Leu40=) c.116T= (p.Leu39=) n.254+2849A= | |
| 5 | g.156344605del | CA2676177548 | SGCD | c.120del (p.Leu41SerfsTer3) c.117del (p.Leu40SerfsTer3) n.254+2848del | gnomAD v4 |
| 5 | g.156344605G>A | CA447387422 | SGCD | c.120G>A (p.Leu40=) c.117G>A (p.Leu39=) n.254+2848C>T | |
| 5 | g.156344605G>C | CA447387423 | SGCD | c.120G>C (p.Leu40=) c.117G>C (p.Leu39=) n.254+2848C>G | |
| 5 | g.156344605G>T | CA447387424 | SGCD | c.120G>T (p.Leu40=) c.117G>T (p.Leu39=) n.254+2848C>A | |
| 5 | g.156344606C>A | CA362007733 | SGCD | c.121C>A (p.Leu41Ile) c.118C>A (p.Leu40Ile) n.254+2847G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.156344606C= | CA1593661214 | SGCD | c.121C= (p.Leu41=) c.118C= (p.Leu40=) n.254+2847G= | |
| 5 | g.156344606C>G | CA362007732 | SGCD | c.121C>G (p.Leu41Val) c.118C>G (p.Leu40Val) n.254+2847G>C | |
| 5 | g.156344606C>T | CA3530492 | SGCD | c.121C>T (p.Leu41Phe) c.118C>T (p.Leu40Phe) n.254+2847G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344609_156344611dup | CA2676177549 | SGCD | c.124_126dup (p.Leu42_Met43insLeu) c.121_123dup (p.Leu41_Met42insLeu) n.254+2845_254+2847dup | gnomAD v4 |
| 5 | g.156344609_156344611del | CA2695205632 | SGCD | c.124_126del (p.Leu42del) c.121_123del (p.Leu41del) n.254+2845_254+2847del | |
| 5 | g.156344607T>A | CA362007734 | SGCD | c.122T>A (p.Leu41His) c.119T>A (p.Leu40His) n.254+2846A>T | |
| 5 | g.156344607T>C | CA362007735 | SGCD | c.122T>C (p.Leu41Pro) c.119T>C (p.Leu40Pro) n.254+2846A>G | |
| 5 | g.156344607T>G | CA362007736 | SGCD | c.122T>G (p.Leu41Arg) c.119T>G (p.Leu40Arg) n.254+2846A>C | |
| 5 | g.156344608C>A | CA447387425 | SGCD | c.123C>A (p.Leu41=) c.120C>A (p.Leu40=) n.254+2845G>T | |
| 5 | g.156344608C= | CA1593661215 | SGCD | c.123C= (p.Leu41=) c.120C= (p.Leu40=) n.254+2845G= | |
| 5 | g.156344608C>G | CA142617 | SGCD | c.123C>G (p.Leu41=) c.120C>G (p.Leu40=) n.254+2845G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344608C>T | CA3530493 | SGCD | c.123C>T (p.Leu41=) c.120C>T (p.Leu40=) n.254+2845G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344609C>A | CA362007737 | SGCD | c.124C>A (p.Leu42Ile) c.121C>A (p.Leu41Ile) n.254+2844G>T | |
| 5 | g.156344609C>G | CA362007738 | SGCD | c.124C>G (p.Leu42Val) c.121C>G (p.Leu41Val) n.254+2844G>C | |
| 5 | g.156344609C>T | CA362007739 | SGCD | c.124C>T (p.Leu42Phe) c.121C>T (p.Leu41Phe) n.254+2844G>A | |
| 5 | g.156344610T>A | CA362007740 | SGCD | c.125T>A (p.Leu42His) c.122T>A (p.Leu41His) n.254+2843A>T | |
| 5 | g.156344610T>C | CA3530494 | SGCD | c.125T>C (p.Leu42Pro) c.122T>C (p.Leu41Pro) n.254+2843A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344610T>G | CA362007741 | SGCD | c.125T>G (p.Leu42Arg) c.122T>G (p.Leu41Arg) n.254+2843A>C | |
| 5 | g.156344610T= | CA1593661216 | SGCD | c.125T= (p.Leu42=) c.122T= (p.Leu41=) n.254+2843A= | |
| 5 | g.156344611C>A | CA447387426 | SGCD | c.126C>A (p.Leu42=) c.123C>A (p.Leu41=) n.254+2842G>T | |
| 5 | g.156344611C= | CA1593661217 | SGCD | c.126C= (p.Leu42=) c.123C= (p.Leu41=) n.254+2842G= | |
| 5 | g.156344611C>G | CA447387427 | SGCD | c.126C>G (p.Leu42=) c.123C>G (p.Leu41=) n.254+2842G>C | |
| 5 | g.156344611C>T | CA447387428 | SGCD | c.126C>T (p.Leu42=) c.123C>T (p.Leu41=) n.254+2842G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344612A>C | CA362007744 | SGCD | c.127A>C (p.Met43Leu) c.124A>C (p.Met42Leu) n.254+2841T>G | |
| 5 | g.156344612A>G | CA362007742 | SGCD | c.127A>G (p.Met43Val) c.124A>G (p.Met42Val) n.254+2841T>C | gnomAD v4 COSMIC COSMIC |
| 5 | g.156344612A>T | CA362007743 | SGCD | c.127A>T (p.Met43Leu) c.124A>T (p.Met42Leu) n.254+2841T>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.156344613T>A | CA362007745 | SGCD | c.128T>A (p.Met43Lys) c.125T>A (p.Met42Lys) n.254+2840A>T | |
| 5 | g.156344613T>C | CA362007746 | SGCD | c.128T>C (p.Met43Thr) c.125T>C (p.Met42Thr) n.254+2840A>G | |
| 5 | g.156344613T>G | CA362007747 | SGCD | c.128T>G (p.Met43Arg) c.125T>G (p.Met42Arg) n.254+2840A>C | |
| 5 | g.156344614G>A | CA362007748 | SGCD | c.129G>A (p.Met43Ile) c.126G>A (p.Met42Ile) n.254+2839C>T | gnomAD v4 |
| 5 | g.156344614G>C | CA362007749 | SGCD | c.129G>C (p.Met43Ile) c.126G>C (p.Met42Ile) n.254+2839C>G | |
| 5 | g.156344614G>T | CA362007750 | SGCD | c.129G>T (p.Met43Ile) c.126G>T (p.Met42Ile) n.254+2839C>A | |
| 5 | g.156344615A= | CA1593661218 | SGCD | c.130A= (p.Ile44=) c.127A= (p.Ile43=) n.254+2838T= | |
| 5 | g.156344615A>C | CA362007751 | SGCD | c.130A>C (p.Ile44Leu) c.127A>C (p.Ile43Leu) n.254+2838T>G | |
| 5 | g.156344615A>G | CA362007752 | SGCD | c.130A>G (p.Ile44Val) c.127A>G (p.Ile43Val) n.254+2838T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344615A>T | CA362007753 | SGCD | c.130A>T (p.Ile44Phe) c.127A>T (p.Ile43Phe) n.254+2838T>A | |
| 5 | g.156344616T>A | CA362007754 | SGCD | c.131T>A (p.Ile44Asn) c.128T>A (p.Ile43Asn) n.254+2837A>T | |
| 5 | g.156344616T>C | CA362007756 | SGCD | c.131T>C (p.Ile44Thr) c.128T>C (p.Ile43Thr) n.254+2837A>G | |
| 5 | g.156344616T>G | CA362007755 | SGCD | c.131T>G (p.Ile44Ser) c.128T>G (p.Ile43Ser) n.254+2837A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344616T= | CA1593661219 | SGCD | c.131T= (p.Ile44=) c.128T= (p.Ile43=) n.254+2837A= | |
| 5 | g.156344617T>A | CA447387429 | SGCD | c.132T>A (p.Ile44=) c.129T>A (p.Ile43=) n.254+2836A>T | |
| 5 | g.156344617T>C | CA447387430 | SGCD | c.132T>C (p.Ile44=) c.129T>C (p.Ile43=) n.254+2836A>G | |
| 5 | g.156344617T>G | CA362007757 | SGCD | c.132T>G (p.Ile44Met) c.129T>G (p.Ile43Met) n.254+2836A>C | COSMIC |
| 5 | g.156344618T>A | CA362007758 | SGCD | c.133T>A (p.Leu45Ile) c.130T>A (p.Leu44Ile) n.254+2835A>T | |
| 5 | g.156344618T>C | CA447387431 | SGCD | c.133T>C (p.Leu45=) c.130T>C (p.Leu44=) n.254+2835A>G | |
| 5 | g.156344618T>G | CA362007759 | SGCD | c.133T>G (p.Leu45Val) c.130T>G (p.Leu44Val) n.254+2835A>C | |
| 5 | g.156344618_156344657dup | CA2676177550 | SGCD | c.133_172dup (p.Lys58IlefsTer21) c.130_169dup (p.Lys57IlefsTer21) n.254+2796_254+2835dup | ClinVar gnomAD v4 |
| 5 | g.156344619T>A | CA362007760 | SGCD | c.134T>A (p.Leu45Ter) c.131T>A (p.Leu44Ter) n.254+2834A>T | |
| 5 | g.156344619T>C | CA362007761 | SGCD | c.134T>C (p.Leu45Ser) c.131T>C (p.Leu44Ser) n.254+2834A>G | |
| 5 | g.156344619T>G | CA362007762 | SGCD | c.134T>G (p.Leu45Ter) c.131T>G (p.Leu44Ter) n.254+2834A>C | |
| 5 | g.156344620A>C | CA362007763 | SGCD | c.135A>C (p.Leu45Phe) c.132A>C (p.Leu44Phe) n.254+2833T>G | |
| 5 | g.156344620A>G | CA447387432 | SGCD | c.135A>G (p.Leu45=) c.132A>G (p.Leu44=) n.254+2833T>C | |
| 5 | g.156344620A>T | CA362007764 | SGCD | c.135A>T (p.Leu45Phe) c.132A>T (p.Leu44Phe) n.254+2833T>A | |
| 5 | g.156344621A= | CA1593661220 | SGCD | c.136A= (p.Ile46=) c.133A= (p.Ile45=) n.254+2832T= | |
| 5 | g.156344621A>C | CA362007765 | SGCD | c.136A>C (p.Ile46Leu) c.133A>C (p.Ile45Leu) n.254+2832T>G | |
| 5 | g.156344621A>G | CA362007766 | SGCD | c.136A>G (p.Ile46Val) c.133A>G (p.Ile45Val) n.254+2832T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344621A>T | CA362007767 | SGCD | c.136A>T (p.Ile46Leu) c.133A>T (p.Ile45Leu) n.254+2832T>A | |
| 5 | g.156344622T>A | CA362007770 | SGCD | c.137T>A (p.Ile46Lys) c.134T>A (p.Ile45Lys) n.254+2831A>T | |
| 5 | g.156344622T>C | CA362007768 | SGCD | c.137T>C (p.Ile46Thr) c.134T>C (p.Ile45Thr) n.254+2831A>G | gnomAD v4 |
| 5 | g.156344622T>G | CA362007769 | SGCD | c.137T>G (p.Ile46Arg) c.134T>G (p.Ile45Arg) n.254+2831A>C | |
| 5 | g.156344623A>C | CA447387433 | SGCD | c.138A>C (p.Ile46=) c.135A>C (p.Ile45=) n.254+2830T>G | |
| 5 | g.156344623A>G | CA362007771 | SGCD | c.138A>G (p.Ile46Met) c.135A>G (p.Ile45Met) n.254+2830T>C | |
| 5 | g.156344623A>T | CA447387434 | SGCD | c.138A>T (p.Ile46=) c.135A>T (p.Ile45=) n.254+2830T>A | |
| 5 | g.156344624C>A | CA362007772 | SGCD | c.139C>A (p.Leu47Met) c.136C>A (p.Leu46Met) n.254+2829G>T | |
| 5 | g.156344624C>G | CA362007773 | SGCD | c.139C>G (p.Leu47Val) c.136C>G (p.Leu46Val) n.254+2829G>C | gnomAD v4 |
| 5 | g.156344624C>T | CA447387435 | SGCD | c.139C>T (p.Leu47=) c.136C>T (p.Leu46=) n.254+2829G>A | |
| 5 | g.156344625T>A | CA362007774 | SGCD | c.140T>A (p.Leu47Gln) c.137T>A (p.Leu46Gln) n.254+2828A>T | |
| 5 | g.156344625T>C | CA362007775 | SGCD | c.140T>C (p.Leu47Pro) c.137T>C (p.Leu46Pro) n.254+2828A>G | gnomAD v4 |
| 5 | g.156344625T>G | CA362007776 | SGCD | c.140T>G (p.Leu47Arg) c.137T>G (p.Leu46Arg) n.254+2828A>C | |
| 5 | g.156344626G>A | CA3530495 | SGCD | c.141G>A (p.Leu47=) c.138G>A (p.Leu46=) n.254+2827C>T | dbSNP ExAC gnomAD v2 |
| 5 | g.156344626G>C | CA447387436 | SGCD | c.141G>C (p.Leu47=) c.138G>C (p.Leu46=) n.254+2827C>G | |
| 5 | g.156344626G= | CA1593661221 | SGCD | c.141G= (p.Leu47=) c.138G= (p.Leu46=) n.254+2827C= | |
| 5 | g.156344626G>T | CA447387437 | SGCD | c.141G>T (p.Leu47=) c.138G>T (p.Leu46=) n.254+2827C>A | |
| 5 | g.156344627G>A | CA362007777 | SGCD | c.142G>A (p.Val48Met) c.139G>A (p.Val47Met) n.254+2826C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344627G>C | CA362007778 | SGCD | c.142G>C (p.Val48Leu) c.139G>C (p.Val47Leu) n.254+2826C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344627G= | CA1593661222 | SGCD | c.142G= (p.Val48=) c.139G= (p.Val47=) n.254+2826C= | |
| 5 | g.156344627G>T | CA3530496 | SGCD | c.142G>T (p.Val48Leu) c.139G>T (p.Val47Leu) n.254+2826C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344628T>A | CA362007779 | SGCD | c.143T>A (p.Val48Glu) c.140T>A (p.Val47Glu) n.254+2825A>T | |
| 5 | g.156344628T>C | CA362007781 | SGCD | c.143T>C (p.Val48Ala) c.140T>C (p.Val47Ala) n.254+2825A>G | |
| 5 | g.156344628T>G | CA362007780 | SGCD | c.143T>G (p.Val48Gly) c.140T>G (p.Val47Gly) n.254+2825A>C | |
| 5 | g.156344629G>A | CA447387438 | SGCD | c.144G>A (p.Val48=) c.141G>A (p.Val47=) n.254+2824C>T | gnomAD v4 |
| 5 | g.156344629G>C | CA295653 | SGCD | c.144G>C (p.Val48=) c.141G>C (p.Val47=) n.254+2824C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344629G= | CA1593661223 | SGCD | c.144G= (p.Val48=) c.141G= (p.Val47=) n.254+2824C= | |
| 5 | g.156344629G>T | CA447387439 | SGCD | c.144G>T (p.Val48=) c.141G>T (p.Val47=) n.254+2824C>A | |
| 5 | g.156344630A= | CA1593661224 | SGCD | c.145A= (p.Asn49=) c.142A= (p.Asn48=) n.254+2823T= | |
| 5 | g.156344630A>C | CA362007782 | SGCD | c.145A>C (p.Asn49His) c.142A>C (p.Asn48His) n.254+2823T>G | |
| 5 | g.156344630A>G | CA362007783 | SGCD | c.145A>G (p.Asn49Asp) c.142A>G (p.Asn48Asp) n.254+2823T>C | dbSNP |
| 5 | g.156344630A>T | CA362007784 | SGCD | c.145A>T (p.Asn49Tyr) c.142A>T (p.Asn48Tyr) n.254+2823T>A | |
| 5 | g.156344631A>C | CA362007785 | SGCD | c.146A>C (p.Asn49Thr) c.143A>C (p.Asn48Thr) n.254+2822T>G | |
| 5 | g.156344631A>G | CA362007786 | SGCD | c.146A>G (p.Asn49Ser) c.143A>G (p.Asn48Ser) n.254+2822T>C | |
| 5 | g.156344631A>T | CA362007787 | SGCD | c.146A>T (p.Asn49Ile) c.143A>T (p.Asn48Ile) n.254+2822T>A | gnomAD v4 |
| 5 | g.156344632C>A | CA362007788 | SGCD | c.147C>A (p.Asn49Lys) c.144C>A (p.Asn48Lys) n.254+2821G>T | |
| 5 | g.156344632C>G | CA362007789 | SGCD | c.147C>G (p.Asn49Lys) c.144C>G (p.Asn48Lys) n.254+2821G>C | |
| 5 | g.156344632C>T | CA447387441 | SGCD | c.147C>T (p.Asn49=) c.144C>T (p.Asn48=) n.254+2821G>A | ClinVar dbSNP |
| 5 | g.156344633T>A | CA362007791 | SGCD | c.148T>A (p.Leu50Met) c.145T>A (p.Leu49Met) n.254+2820A>T | |
| 5 | g.156344633T>C | CA447387442 | SGCD | c.148T>C (p.Leu50=) c.145T>C (p.Leu49=) n.254+2820A>G | |
| 5 | g.156344633T>G | CA362007790 | SGCD | c.148T>G (p.Leu50Val) c.145T>G (p.Leu49Val) n.254+2820A>C | |
| 5 | g.156344634T>A | CA362007792 | SGCD | c.149T>A (p.Leu50Ter) c.146T>A (p.Leu49Ter) n.254+2819A>T | |
| 5 | g.156344634T>C | CA362007793 | SGCD | c.149T>C (p.Leu50Ser) c.146T>C (p.Leu49Ser) n.254+2819A>G | |
| 5 | g.156344634T>G | CA362007794 | SGCD | c.149T>G (p.Leu50Trp) c.146T>G (p.Leu49Trp) n.254+2819A>C | |
| 5 | g.156344635G>A | CA3530497 | SGCD | c.150G>A (p.Leu50=) c.147G>A (p.Leu49=) n.254+2818C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344635G>C | CA362007795 | SGCD | c.150G>C (p.Leu50Phe) c.147G>C (p.Leu49Phe) n.254+2818C>G | |
| 5 | g.156344635G= | CA1593661225 | SGCD | c.150G= (p.Leu50=) c.147G= (p.Leu49=) n.254+2818C= | |
| 5 | g.156344635G>T | CA362007796 | SGCD | c.150G>T (p.Leu50Phe) c.147G>T (p.Leu49Phe) n.254+2818C>A | |
| 5 | g.156344636G>A | CA362007797 | SGCD | c.151G>A (p.Ala51Thr) c.148G>A (p.Ala50Thr) n.254+2817C>T | |
| 5 | g.156344636G>C | CA362007798 | SGCD | c.151G>C (p.Ala51Pro) c.148G>C (p.Ala50Pro) n.254+2817C>G | gnomAD v4 |
| 5 | g.156344636G>T | CA362007799 | SGCD | c.151G>T (p.Ala51Ser) c.148G>T (p.Ala50Ser) n.254+2817C>A | |
| 5 | g.156344637C>A | CA362007800 | SGCD | c.152C>A (p.Ala51Asp) c.149C>A (p.Ala50Asp) n.254+2816G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344637C= | CA1593661226 | SGCD | c.152C= (p.Ala51=) c.149C= (p.Ala50=) n.254+2816G= | |
| 5 | g.156344637C>G | CA362007802 | SGCD | c.152C>G (p.Ala51Gly) c.149C>G (p.Ala50Gly) n.254+2816G>C | |
| 5 | g.156344637C>T | CA362007801 | SGCD | c.152C>T (p.Ala51Val) c.149C>T (p.Ala50Val) n.254+2816G>A | dbSNP |
| 5 | g.156344638C>A | CA447387443 | SGCD | c.153C>A (p.Ala51=) c.150C>A (p.Ala50=) n.254+2815G>T | COSMIC |
| 5 | g.156344638C= | CA1593661227 | SGCD | c.153C= (p.Ala51=) c.150C= (p.Ala50=) n.254+2815G= | |
| 5 | g.156344638C>G | CA447387444 | SGCD | c.153C>G (p.Ala51=) c.150C>G (p.Ala50=) n.254+2815G>C | |
| 5 | g.156344638C>T | CA130594222 | SGCD | c.153C>T (p.Ala51=) c.150C>T (p.Ala50=) n.254+2815G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344639A>C | CA362007803 | SGCD | c.154A>C (p.Met52Leu) c.151A>C (p.Met51Leu) n.254+2814T>G | |
| 5 | g.156344639A>G | CA362007805 | SGCD | c.154A>G (p.Met52Val) c.151A>G (p.Met51Val) n.254+2814T>C | gnomAD v4 |
| 5 | g.156344639A>T | CA362007804 | SGCD | c.154A>T (p.Met52Leu) c.151A>T (p.Met51Leu) n.254+2814T>A | |
| 5 | g.156344640T>A | CA362007806 | SGCD | c.155T>A (p.Met52Lys) c.152T>A (p.Met51Lys) n.254+2813A>T | |
| 5 | g.156344640T>C | CA362007807 | SGCD | c.155T>C (p.Met52Thr) c.152T>C (p.Met51Thr) n.254+2813A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.156344640T>G | CA362007808 | SGCD | c.155T>G (p.Met52Arg) c.152T>G (p.Met51Arg) n.254+2813A>C | |
| 5 | g.156344641G>A | CA362007809 | SGCD | c.156G>A (p.Met52Ile) c.153G>A (p.Met51Ile) n.254+2812C>T | |
| 5 | g.156344641G>C | CA362007810 | SGCD | c.156G>C (p.Met52Ile) c.153G>C (p.Met51Ile) n.254+2812C>G | |
| 5 | g.156344641G>T | CA362007811 | SGCD | c.156G>T (p.Met52Ile) c.153G>T (p.Met51Ile) n.254+2812C>A | COSMIC |
| 5 | g.156344642A>C | CA362007812 | SGCD | c.157A>C (p.Thr53Pro) c.154A>C (p.Thr52Pro) n.254+2811T>G | |
| 5 | g.156344642A>G | CA362007813 | SGCD | c.157A>G (p.Thr53Ala) c.154A>G (p.Thr52Ala) n.254+2811T>C | |
| 5 | g.156344642A>T | CA362007814 | SGCD | c.157A>T (p.Thr53Ser) c.154A>T (p.Thr52Ser) n.254+2811T>A | |
| 5 | g.156344643C>A | CA362007815 | SGCD | c.158C>A (p.Thr53Asn) c.155C>A (p.Thr52Asn) n.254+2810G>T | |
| 5 | g.156344643C>G | CA362007816 | SGCD | c.158C>G (p.Thr53Ser) c.155C>G (p.Thr52Ser) n.254+2810G>C | |
| 5 | g.156344643C>T | CA362007817 | SGCD | c.158C>T (p.Thr53Ile) c.155C>T (p.Thr52Ile) n.254+2810G>A | |
| 5 | g.156344644C>A | CA447387447 | SGCD | c.159C>A (p.Thr53=) c.156C>A (p.Thr52=) n.254+2809G>T | |
| 5 | g.156344644C>G | CA447387446 | SGCD | c.159C>G (p.Thr53=) c.156C>G (p.Thr52=) n.254+2809G>C | |
| 5 | g.156344644C>T | CA447387445 | SGCD | c.159C>T (p.Thr53=) c.156C>T (p.Thr52=) n.254+2809G>A | ClinVar COSMIC COSMIC |
| 5 | g.156344645A= | CA1593661228 | SGCD | c.160A= (p.Ile54=) c.157A= (p.Ile53=) n.254+2808T= | |
| 5 | g.156344645A>C | CA362007819 | SGCD | c.160A>C (p.Ile54Leu) c.157A>C (p.Ile53Leu) n.254+2808T>G | |
| 5 | g.156344645A>G | CA308785 | SGCD | c.160A>G (p.Ile54Val) c.157A>G (p.Ile53Val) n.254+2808T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344645A>T | CA362007818 | SGCD | c.160A>T (p.Ile54Phe) c.157A>T (p.Ile53Phe) n.254+2808T>A | |
| 5 | g.156344646T>A | CA362007820 | SGCD | c.161T>A (p.Ile54Asn) c.158T>A (p.Ile53Asn) n.254+2807A>T | |
| 5 | g.156344646T>C | CA362007821 | SGCD | c.161T>C (p.Ile54Thr) c.158T>C (p.Ile53Thr) n.254+2807A>G | gnomAD v4 |
| 5 | g.156344646T>G | CA362007822 | SGCD | c.161T>G (p.Ile54Ser) c.158T>G (p.Ile53Ser) n.254+2807A>C | |
| 5 | g.156344647C>A | CA447387449 | SGCD | c.162C>A (p.Ile54=) c.159C>A (p.Ile53=) n.254+2806G>T | |
| 5 | g.156344647C>G | CA362007823 | SGCD | c.162C>G (p.Ile54Met) c.159C>G (p.Ile53Met) n.254+2806G>C | |
| 5 | g.156344647C>T | CA447387448 | SGCD | c.162C>T (p.Ile54=) c.159C>T (p.Ile53=) n.254+2806G>A | COSMIC |
| 5 | g.156344648T>A | CA362007824 | SGCD | c.163T>A (p.Trp55Arg) c.160T>A (p.Trp54Arg) n.254+2805A>T | |
| 5 | g.156344648T>C | CA362007825 | SGCD | c.163T>C (p.Trp55Arg) c.160T>C (p.Trp54Arg) n.254+2805A>G | gnomAD v4 |
| 5 | g.156344648T>G | CA362007826 | SGCD | c.163T>G (p.Trp55Gly) c.160T>G (p.Trp54Gly) n.254+2805A>C | |
| 5 | g.156344649G>A | CA362007827 | SGCD | c.164G>A (p.Trp55Ter) c.161G>A (p.Trp54Ter) n.254+2804C>T | |
| 5 | g.156344649G>C | CA362007828 | SGCD | c.164G>C (p.Trp55Ser) c.161G>C (p.Trp54Ser) n.254+2804C>G | |
| 5 | g.156344649G>T | CA362007829 | SGCD | c.164G>T (p.Trp55Leu) c.161G>T (p.Trp54Leu) n.254+2804C>A | |
| 5 | g.156344650G>A | CA362007830 | SGCD | c.165G>A (p.Trp55Ter) c.162G>A (p.Trp54Ter) n.254+2803C>T | |
| 5 | g.156344650G>C | CA362007832 | SGCD | c.165G>C (p.Trp55Cys) c.162G>C (p.Trp54Cys) n.254+2803C>G | |
| 5 | g.156344650G>T | CA362007831 | SGCD | c.165G>T (p.Trp55Cys) c.162G>T (p.Trp54Cys) n.254+2803C>A | |
| 5 | g.156344651A>C | CA362007833 | SGCD | c.166A>C (p.Ile56Leu) c.163A>C (p.Ile55Leu) n.254+2802T>G | |
| 5 | g.156344651A>G | CA362007834 | SGCD | c.166A>G (p.Ile56Val) c.163A>G (p.Ile55Val) n.254+2802T>C | |
| 5 | g.156344651A>T | CA362007835 | SGCD | c.166A>T (p.Ile56Phe) c.163A>T (p.Ile55Phe) n.254+2802T>A | |
| 5 | g.156344652T>A | CA362007836 | SGCD | c.167T>A (p.Ile56Asn) c.164T>A (p.Ile55Asn) n.254+2801A>T | |
| 5 | g.156344652T>C | CA362007837 | SGCD | c.167T>C (p.Ile56Thr) c.164T>C (p.Ile55Thr) n.254+2801A>G | |
| 5 | g.156344652T>G | CA362007838 | SGCD | c.167T>G (p.Ile56Ser) c.164T>G (p.Ile55Ser) n.254+2801A>C | |
| 5 | g.156344653T>A | CA447387450 | SGCD | c.168T>A (p.Ile56=) c.165T>A (p.Ile55=) n.254+2800A>T | |
| 5 | g.156344653T>C | CA447387451 | SGCD | c.168T>C (p.Ile56=) c.165T>C (p.Ile55=) n.254+2800A>G | |
| 5 | g.156344653T>G | CA362007839 | SGCD | c.168T>G (p.Ile56Met) c.165T>G (p.Ile55Met) n.254+2800A>C | |
| 5 | g.156344654C>A | CA362007840 | SGCD | c.169C>A (p.Leu57Ile) c.166C>A (p.Leu56Ile) n.254+2799G>T | |
| 5 | g.156344654C>G | CA362007841 | SGCD | c.169C>G (p.Leu57Val) c.166C>G (p.Leu56Val) n.254+2799G>C | |
| 5 | g.156344654C>T | CA362007842 | SGCD | c.169C>T (p.Leu57Phe) c.166C>T (p.Leu56Phe) n.254+2799G>A | |
| 5 | g.156344655T>A | CA362007845 | SGCD | c.170T>A (p.Leu57His) c.167T>A (p.Leu56His) n.254+2798A>T | |
| 5 | g.156344655T>C | CA362007843 | SGCD | c.170T>C (p.Leu57Pro) c.167T>C (p.Leu56Pro) n.254+2798A>G | |
| 5 | g.156344655T>G | CA362007844 | SGCD | c.170T>G (p.Leu57Arg) c.167T>G (p.Leu56Arg) n.254+2798A>C | |
| 5 | g.156344656C>A | CA447387452 | SGCD | c.171C>A (p.Leu57=) c.168C>A (p.Leu56=) n.254+2797G>T | |
| 5 | g.156344656C>G | CA447387453 | SGCD | c.171C>G (p.Leu57=) c.168C>G (p.Leu56=) n.254+2797G>C | ClinVar gnomAD v4 |
| 5 | g.156344656C>T | CA447387454 | SGCD | c.171C>T (p.Leu57=) c.168C>T (p.Leu56=) n.254+2797G>A | |
| 5 | g.156344657A>C | CA362007846 | SGCD | c.172A>C (p.Lys58Gln) c.169A>C (p.Lys57Gln) n.254+2796T>G | |
| 5 | g.156344657A>G | CA362007847 | SGCD | c.172A>G (p.Lys58Glu) c.169A>G (p.Lys57Glu) n.254+2796T>C | |
| 5 | g.156344657A>T | CA362007848 | SGCD | c.172A>T (p.Lys58Ter) c.169A>T (p.Lys57Ter) n.254+2796T>A | gnomAD v4 |
| 5 | g.156344658_156344659del | CA2676177551 | SGCD | c.173_174del (p.Lys58SerfsTer7) c.170_171del (p.Lys57SerfsTer7) n.254+2795_254+2796del | gnomAD v4 |
| 5 | g.156344658A>C | CA362007849 | SGCD | c.173A>C (p.Lys58Thr) c.170A>C (p.Lys57Thr) n.254+2795T>G | |
| 5 | g.156344658A>G | CA362007850 | SGCD | c.173A>G (p.Lys58Arg) c.170A>G (p.Lys57Arg) n.254+2795T>C | |
| 5 | g.156344658A>T | CA362007851 | SGCD | c.173A>T (p.Lys58Ile) c.170A>T (p.Lys57Ile) n.254+2795T>A | |
| 5 | g.156344659A= | CA1593661229 | SGCD | c.174A= (p.Lys58=) c.171A= (p.Lys57=) n.254+2794T= | |
| 5 | g.156344659A>C | CA130594223 | SGCD | c.174A>C (p.Lys58Asn) c.171A>C (p.Lys57Asn) n.254+2794T>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156344659A>G | CA447387455 | SGCD | c.174A>G (p.Lys58=) c.171A>G (p.Lys57=) n.254+2794T>C | |
| 5 | g.156344659A>T | CA362007852 | SGCD | c.174A>T (p.Lys58Asn) c.171A>T (p.Lys57Asn) n.254+2794T>A | gnomAD v4 |
| 5 | g.156344660G>A | CA362007853 | SGCD | c.175G>A (p.Val59Ile) c.172G>A (p.Val58Ile) n.254+2793C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344660G>C | CA362007855 | SGCD | c.175G>C (p.Val59Leu) c.172G>C (p.Val58Leu) n.254+2793C>G | |
| 5 | g.156344660G= | CA1593661230 | SGCD | c.175G= (p.Val59=) c.172G= (p.Val58=) n.254+2793C= | |
| 5 | g.156344660G>T | CA362007854 | SGCD | c.175G>T (p.Val59Phe) c.172G>T (p.Val58Phe) n.254+2793C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344661T>A | CA362007856 | SGCD | c.176T>A (p.Val59Asp) c.173T>A (p.Val58Asp) n.254+2792A>T | |
| 5 | g.156344661T>C | CA362007858 | SGCD | c.176T>C (p.Val59Ala) c.173T>C (p.Val58Ala) n.254+2792A>G | |
| 5 | g.156344661T>G | CA362007857 | SGCD | c.176T>G (p.Val59Gly) c.173T>G (p.Val58Gly) n.254+2792A>C | |
| 5 | g.156344662C>A | CA447387456 | SGCD | c.177C>A (p.Val59=) c.174C>A (p.Val58=) n.254+2791G>T | |
| 5 | g.156344662C= | CA1593661231 | SGCD | c.177C= (p.Val59=) c.174C= (p.Val58=) n.254+2791G= | |
| 5 | g.156344662C>G | CA447387457 | SGCD | c.177C>G (p.Val59=) c.174C>G (p.Val58=) n.254+2791G>C | |
| 5 | g.156344662C>T | CA185583 | SGCD | c.177C>T (p.Val59=) c.174C>T (p.Val58=) n.254+2791G>A | ClinVar dbSNP |
| 5 | g.156344663A= | CA1593661232 | SGCD | c.178A= (p.Met60=) c.175A= (p.Met59=) n.254+2790T= | |
| 5 | g.156344663A>C | CA362007859 | SGCD | c.178A>C (p.Met60Leu) c.175A>C (p.Met59Leu) n.254+2790T>G | gnomAD v4 |
| 5 | g.156344663A>G | CA130594224 | SGCD | c.178A>G (p.Met60Val) c.175A>G (p.Met59Val) n.254+2790T>C | dbSNP |
| 5 | g.156344663A>T | CA362007860 | SGCD | c.178A>T (p.Met60Leu) c.175A>T (p.Met59Leu) n.254+2790T>A | gnomAD v4 |
| 5 | g.156344664T>A | CA362007861 | SGCD | c.179T>A (p.Met60Lys) c.176T>A (p.Met59Lys) n.254+2789A>T | |
| 5 | g.156344664T>C | CA3530498 | SGCD | c.179T>C (p.Met60Thr) c.176T>C (p.Met59Thr) n.254+2789A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344664T>G | CA362007862 | SGCD | c.179T>G (p.Met60Arg) c.176T>G (p.Met59Arg) n.254+2789A>C | |
| 5 | g.156344664T= | CA1593661233 | SGCD | c.179T= (p.Met60=) c.176T= (p.Met59=) n.254+2789A= | |
| 5 | g.156344665G>A | CA362007865 | SGCD | c.180G>A (p.Met60Ile) c.177G>A (p.Met59Ile) n.254+2788C>T | |
| 5 | g.156344665G>C | CA362007864 | SGCD | c.180G>C (p.Met60Ile) c.177G>C (p.Met59Ile) n.254+2788C>G | dbSNP gnomAD v4 |
| 5 | g.156344665G= | CA1593661234 | SGCD | c.180G= (p.Met60=) c.177G= (p.Met59=) n.254+2788C= | |
| 5 | g.156344665G>T | CA362007863 | SGCD | c.180G>T (p.Met60Ile) c.177G>T (p.Met59Ile) n.254+2788C>A | gnomAD v4 |
| 5 | g.156344666A= | CA1593661235 | SGCD | c.181A= (p.Asn61=) c.178A= (p.Asn60=) n.254+2787T= | |
| 5 | g.156344666A>C | CA362007866 | SGCD | c.181A>C (p.Asn61His) c.178A>C (p.Asn60His) n.254+2787T>G | |
| 5 | g.156344666A>G | CA362007867 | SGCD | c.181A>G (p.Asn61Asp) c.178A>G (p.Asn60Asp) n.254+2787T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344666A>T | CA362007868 | SGCD | c.181A>T (p.Asn61Tyr) c.178A>T (p.Asn60Tyr) n.254+2787T>A | |
| 5 | g.156344667A>C | CA362007869 | SGCD | c.182A>C (p.Asn61Thr) c.179A>C (p.Asn60Thr) n.254+2786T>G | gnomAD v4 COSMIC |
| 5 | g.156344667A>G | CA362007870 | SGCD | c.182A>G (p.Asn61Ser) c.179A>G (p.Asn60Ser) n.254+2786T>C | gnomAD v4 |
| 5 | g.156344667A>T | CA362007871 | SGCD | c.182A>T (p.Asn61Ile) c.179A>T (p.Asn60Ile) n.254+2786T>A | |
| 5 | g.156344668C>A | CA362007872 | SGCD | c.183C>A (p.Asn61Lys) c.180C>A (p.Asn60Lys) n.254+2785G>T | gnomAD v4 |
| 5 | g.156344668C= | CA1593661236 | SGCD | c.183C= (p.Asn61=) c.180C= (p.Asn60=) n.254+2785G= | |
| 5 | g.156344668C>G | CA362007873 | SGCD | c.183C>G (p.Asn61Lys) c.180C>G (p.Asn60Lys) n.254+2785G>C | |
| 5 | g.156344668C>T | CA447387458 | SGCD | c.183C>T (p.Asn61=) c.180C>T (p.Asn60=) n.254+2785G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344669T>A | CA362007875 | SGCD | c.184T>A (p.Phe62Ile) c.181T>A (p.Phe61Ile) n.254+2784A>T | |
| 5 | g.156344669T>C | CA362007876 | SGCD | c.184T>C (p.Phe62Leu) c.181T>C (p.Phe61Leu) n.254+2784A>G | gnomAD v4 COSMIC COSMIC |
| 5 | g.156344669T>G | CA362007874 | SGCD | c.184T>G (p.Phe62Val) c.181T>G (p.Phe61Val) n.254+2784A>C | |
| 5 | g.156344670T>A | CA362007877 | SGCD | c.185T>A (p.Phe62Tyr) c.182T>A (p.Phe61Tyr) n.254+2783A>T | |
| 5 | g.156344670T>C | CA362007878 | SGCD | c.185T>C (p.Phe62Ser) c.182T>C (p.Phe61Ser) n.254+2783A>G | gnomAD v4 |
| 5 | g.156344670T>G | CA362007879 | SGCD | c.185T>G (p.Phe62Cys) c.182T>G (p.Phe61Cys) n.254+2783A>C | |
| 5 | g.156344671C>A | CA362007880 | SGCD | c.186C>A (p.Phe62Leu) c.183C>A (p.Phe61Leu) n.254+2782G>T | |
| 5 | g.156344671C>G | CA362007881 | SGCD | c.186C>G (p.Phe62Leu) c.183C>G (p.Phe61Leu) n.254+2782G>C | |
| 5 | g.156344671C>T | CA447387459 | SGCD | c.186C>T (p.Phe62=) c.183C>T (p.Phe61=) n.254+2782G>A | ClinVar gnomAD v4 |
| 5 | g.156344672A= | CA1593661237 | SGCD | c.187A= (p.Thr63=) c.184A= (p.Thr62=) n.254+2781T= | |
| 5 | g.156344672A>C | CA362007882 | SGCD | c.187A>C (p.Thr63Pro) c.184A>C (p.Thr62Pro) n.254+2781T>G | |
| 5 | g.156344672A>G | CA362007883 | SGCD | c.187A>G (p.Thr63Ala) c.184A>G (p.Thr62Ala) n.254+2781T>C | |
| 5 | g.156344672A>T | CA362007884 | SGCD | c.187A>T (p.Thr63Ser) c.184A>T (p.Thr62Ser) n.254+2781T>A | dbSNP |
| 5 | g.156344673C>A | CA362007887 | SGCD | c.188C>A (p.Thr63Lys) c.185C>A (p.Thr62Lys) n.254+2780G>T | gnomAD v4 COSMIC COSMIC |
| 5 | g.156344673C>G | CA362007886 | SGCD | c.188C>G (p.Thr63Arg) c.185C>G (p.Thr62Arg) n.254+2780G>C | |
| 5 | g.156344673C>T | CA362007885 | SGCD | c.188C>T (p.Thr63Ile) c.185C>T (p.Thr62Ile) n.254+2780G>A | |
| 5 | g.156344674A>C | CA447387460 | SGCD | c.189A>C (p.Thr63=) c.186A>C (p.Thr62=) n.254+2779T>G | |
| 5 | g.156344674A>G | CA447387461 | SGCD | c.189A>G (p.Thr63=) c.186A>G (p.Thr62=) n.254+2779T>C | ClinVar |
| 5 | g.156344674A>T | CA447387462 | SGCD | c.189A>T (p.Thr63=) c.186A>T (p.Thr62=) n.254+2779T>A | |
| 5 | g.156344675A= | CA1593661238 | SGCD | c.190A= (p.Ile64=) c.187A= (p.Ile63=) n.254+2778T= | |
| 5 | g.156344675A>C | CA362007888 | SGCD | c.190A>C (p.Ile64Leu) c.187A>C (p.Ile63Leu) n.254+2778T>G | |
| 5 | g.156344675A>G | CA3530499 | SGCD | c.190A>G (p.Ile64Val) c.187A>G (p.Ile63Val) n.254+2778T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344675A>T | CA362007889 | SGCD | c.190A>T (p.Ile64Phe) c.187A>T (p.Ile63Phe) n.254+2778T>A | |
| 5 | g.156344676T>A | CA362007890 | SGCD | c.191T>A (p.Ile64Asn) c.188T>A (p.Ile63Asn) n.254+2777A>T | |
| 5 | g.156344676T>C | CA308788 | SGCD | c.191T>C (p.Ile64Thr) c.188T>C (p.Ile63Thr) n.254+2777A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344676T>G | CA362007891 | SGCD | c.191T>G (p.Ile64Ser) c.188T>G (p.Ile63Ser) n.254+2777A>C | |
| 5 | g.156344676T= | CA1593661239 | SGCD | c.191T= (p.Ile64=) c.188T= (p.Ile63=) n.254+2777A= | |
| 5 | g.156344677T>A | CA447387464 | SGCD | c.192T>A (p.Ile64=) c.189T>A (p.Ile63=) n.254+2776A>T | |
| 5 | g.156344677T>C | CA447387465 | SGCD | c.192T>C (p.Ile64=) c.189T>C (p.Ile63=) n.254+2776A>G | |
| 5 | g.156344677T>G | CA362007892 | SGCD | c.192T>G (p.Ile64Met) c.189T>G (p.Ile63Met) n.254+2776A>C | |
| 5 | g.156344678G>A | CA362007893 | SGCD | c.192+1G>A (n.192+1G>A) c.189+1G>A (n.189+1G>A) n.254+2775C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344678G>C | CA362007894 | SGCD | c.192+1G>C (n.192+1G>C) c.189+1G>C (n.189+1G>C) n.254+2775C>G | |
| 5 | g.156344678G= | CA1593661240 | SGCD | c.192+1G= (n.192+1G=) c.189+1G= (n.189+1G=) n.254+2775C= | |
| 5 | g.156344678G>T | CA362007895 | SGCD | c.192+1G>T (n.192+1G>T) c.189+1G>T (n.189+1G>T) n.254+2775C>A | |
| 5 | g.156344679T>A | CA362007898 | SGCD | c.192+2T>A (n.192+2T>A) c.189+2T>A (n.189+2T>A) n.254+2774A>T | |
| 5 | g.156344679T>C | CA362007897 | SGCD | c.192+2T>C (n.192+2T>C) c.189+2T>C (n.189+2T>C) n.254+2774A>G | |
| 5 | g.156344679T>G | CA362007896 | SGCD | c.192+2T>G (n.192+2T>G) c.189+2T>G (n.189+2T>G) n.254+2774A>C | |
| 5 | g.156344680A= | CA1593661241 | SGCD | c.192+3A= (n.192+3A=) c.189+3A= (n.189+3A=) n.254+2773T= | |
| 5 | g.156344680A>G | CA3530500 | SGCD | c.192+3A>G (n.192+3A>G) c.189+3A>G (n.189+3A>G) n.254+2773T>C | dbSNP ExAC gnomAD v2 |
| 5 | g.156344680A>T | CA2676177552 | SGCD | c.192+3A>T (n.192+3A>T) c.189+3A>T (n.189+3A>T) n.254+2773T>A | gnomAD v4 |
| 5 | g.156344681A= | CA1593661242 | SGCD | c.192+4A= (n.192+4A=) c.189+4A= (n.189+4A=) n.254+2772T= | |
| 5 | g.156344681A>G | CA3530501 | SGCD | c.192+4A>G (n.192+4A>G) c.189+4A>G (n.189+4A>G) n.254+2772T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344682G>T | CA645557512 | SGCD | c.192+5G>T (n.192+5G>T) c.189+5G>T (n.189+5G>T) n.254+2771C>A | COSMIC COSMIC |