Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.156344574G>A | CA340750 | SGCD | c.89G>A (p.Trp30Ter) c.86G>A (p.Trp29Ter) n.254+2879C>T | ClinVar dbSNP |
5 | g.156344574G>C | CA362007672 | SGCD | c.89G>C (p.Trp30Ser) c.86G>C (p.Trp29Ser) n.254+2879C>G | ClinVar dbSNP |
5 | g.156344574G= | CA1593661195 | SGCD | c.89G= (p.Trp30=) c.86G= (p.Trp29=) n.254+2879C= | |
5 | g.156344574G>T | CA3530485 | SGCD | c.89G>T (p.Trp30Leu) c.86G>T (p.Trp29Leu) n.254+2879C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156344575dup | CA563961408 | SGCD | c.90dup (p.Arg31AlafsTer?) c.87dup (p.Arg30AlafsTer?) n.254+2879dup | dbSNP gnomAD v2 gnomAD v4 |
5 | g.156344575G>A | CA362007673 | SGCD | c.90G>A (p.Trp30Ter) c.87G>A (p.Trp29Ter) n.254+2878C>T | ClinVar |
5 | g.156344575G>C | CA362007674 | SGCD | c.90G>C (p.Trp30Cys) c.87G>C (p.Trp29Cys) n.254+2878C>G | |
5 | g.156344575G>T | CA362007675 | SGCD | c.90G>T (p.Trp30Cys) c.87G>T (p.Trp29Cys) n.254+2878C>A | |
5 | g.156344576C>A | CA447387401 | SGCD | c.91C>A (p.Arg31=) c.88C>A (p.Arg30=) n.254+2877G>T | ClinVar dbSNP |
5 | g.156344576C= | CA1593661196 | SGCD | c.91C= (p.Arg31=) c.88C= (p.Arg30=) n.254+2877G= | |
5 | g.156344576C>G | CA200046 | SGCD | c.91C>G (p.Arg31Gly) c.88C>G (p.Arg30Gly) n.254+2877G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156344576C>T | CA3530486 | SGCD | c.91C>T (p.Arg31Trp) c.88C>T (p.Arg30Trp) n.254+2877G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156344577G>A | CA302926 | SGCD | c.92G>A (p.Arg31Gln) c.89G>A (p.Arg30Gln) n.254+2876C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.156344577G>C | CA362007676 | SGCD | c.92G>C (p.Arg31Pro) c.89G>C (p.Arg30Pro) n.254+2876C>G | |
5 | g.156344577G= | CA1593661197 | SGCD | c.92G= (p.Arg31=) c.89G= (p.Arg30=) n.254+2876C= | |
5 | g.156344577G>T | CA362007677 | SGCD | c.92G>T (p.Arg31Leu) c.89G>T (p.Arg30Leu) n.254+2876C>A | |
5 | g.156344578G>A | CA447387403 | SGCD | c.93G>A (p.Arg31=) c.90G>A (p.Arg30=) n.254+2875C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.156344578G>C | CA447387404 | SGCD | c.93G>C (p.Arg31=) c.90G>C (p.Arg30=) n.254+2875C>G | dbSNP |
5 | g.156344578G= | CA1593661198 | SGCD | c.93G= (p.Arg31=) c.90G= (p.Arg30=) n.254+2875C= | |
5 | g.156344578G>T | CA447387405 | SGCD | c.93G>T (p.Arg31=) c.90G>T (p.Arg30=) n.254+2875C>A | |
5 | g.156344579A= | CA1593661199 | SGCD | c.94A= (p.Lys32=) c.91A= (p.Lys31=) n.254+2874T= | |
5 | g.156344579A>C | CA362007679 | SGCD | c.94A>C (p.Lys32Gln) c.91A>C (p.Lys31Gln) n.254+2874T>G | |
5 | g.156344579A>G | CA3530487 | SGCD | c.94A>G (p.Lys32Glu) c.91A>G (p.Lys31Glu) n.254+2874T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156344579A>T | CA362007678 | SGCD | c.94A>T (p.Lys32Ter) c.91A>T (p.Lys31Ter) n.254+2874T>A | |
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.156344580A= | CA1593661200 | SGCD | c.95A= (p.Lys32=) c.92A= (p.Lys31=) n.254+2873T= | |
5 | g.156344580A>C | CA362007680 | SGCD | c.95A>C (p.Lys32Thr) c.92A>C (p.Lys31Thr) n.254+2873T>G | |
5 | g.156344580A>G | CA362007681 | SGCD | c.95A>G (p.Lys32Arg) c.92A>G (p.Lys31Arg) n.254+2873T>C | dbSNP gnomAD v2 |
5 | g.156344580A>T | CA362007682 | SGCD | c.95A>T (p.Lys32Ile) c.92A>T (p.Lys31Ile) n.254+2873T>A | |
5 | g.156344581A= | CA1593661201 | SGCD | c.96A= (p.Lys32=) c.93A= (p.Lys31=) n.254+2872T= | |
5 | g.156344581A>C | CA362007683 | SGCD | c.96A>C (p.Lys32Asn) c.93A>C (p.Lys31Asn) n.254+2872T>G | |
5 | g.156344581A>G | CA447387406 | SGCD | c.96A>G (p.Lys32=) c.93A>G (p.Lys31=) n.254+2872T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.156344581A>T | CA362007684 | SGCD | c.96A>T (p.Lys32Asn) c.93A>T (p.Lys31Asn) n.254+2872T>A | |
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 |