| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.156344554C>A | CA362007631 | SGCD | c.69C>A (p.Tyr23Ter) c.66C>A (p.Tyr22Ter) n.254+2899G>T | ClinVar dbSNP |
| 5 | g.156344554C= | CA1593661181 | SGCD | c.69C= (p.Tyr23=) c.66C= (p.Tyr22=) n.254+2899G= | |
| 5 | g.156344554C>G | CA362007632 | SGCD | c.69C>G (p.Tyr23Ter) c.66C>G (p.Tyr22Ter) n.254+2899G>C | gnomAD v4 |
| 5 | g.156344554C>T | CA142638 | SGCD | c.69C>T (p.Tyr23=) c.66C>T (p.Tyr22=) n.254+2899G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344555A>C | CA362007633 | SGCD | c.70A>C (p.Lys24Gln) c.67A>C (p.Lys23Gln) n.254+2898T>G | COSMIC |
| 5 | g.156344555A>G | CA362007634 | SGCD | c.70A>G (p.Lys24Glu) c.67A>G (p.Lys23Glu) n.254+2898T>C | |
| 5 | g.156344555A>T | CA362007635 | SGCD | c.70A>T (p.Lys24Ter) c.67A>T (p.Lys23Ter) n.254+2898T>A | |
| 5 | g.156344556A= | CA1593661182 | SGCD | c.71A= (p.Lys24=) c.68A= (p.Lys23=) n.254+2897T= | |
| 5 | g.156344556A>C | CA362007638 | SGCD | c.71A>C (p.Lys24Thr) c.68A>C (p.Lys23Thr) n.254+2897T>G | |
| 5 | g.156344556A>G | CA362007636 | SGCD | c.71A>G (p.Lys24Arg) c.68A>G (p.Lys23Arg) n.254+2897T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344556A>T | CA362007637 | SGCD | c.71A>T (p.Lys24Met) c.68A>T (p.Lys23Met) n.254+2897T>A | |
| 5 | g.156344557G>A | CA447387390 | SGCD | c.72G>A (p.Lys24=) c.69G>A (p.Lys23=) n.254+2896C>T | |
| 5 | g.156344557G>C | CA362007639 | SGCD | c.72G>C (p.Lys24Asn) c.69G>C (p.Lys23Asn) n.254+2896C>G | |
| 5 | g.156344557G>T | CA362007640 | SGCD | c.72G>T (p.Lys24Asn) c.69G>T (p.Lys23Asn) n.254+2896C>A | |
| 5 | g.156344559_156344562dup | CA16611801 | SGCD | c.74_77dup (p.Ile27GlyfsTer?) c.71_74dup (p.Ile26GlyfsTer?) n.254+2893_254+2896dup | ClinVar dbSNP |
| 5 | g.156344559_156344563del | CA2676177547 | SGCD | c.74_78del (p.Val25AspfsTer?) c.71_75del (p.Val24AspfsTer?) n.254+2892_254+2896del | gnomAD v4 |
| 5 | g.156344558G>A | CA362007641 | SGCD | c.73G>A (p.Val25Met) c.70G>A (p.Val24Met) n.254+2895C>T | gnomAD v4 |
| 5 | g.156344558G>C | CA362007642 | SGCD | c.73G>C (p.Val25Leu) c.70G>C (p.Val24Leu) n.254+2895C>G | dbSNP |
| 5 | g.156344558G= | CA1593661183 | SGCD | c.73G= (p.Val25=) c.70G= (p.Val24=) n.254+2895C= | |
| 5 | g.156344558G>T | CA362007643 | SGCD | c.73G>T (p.Val25Leu) c.70G>T (p.Val24Leu) n.254+2895C>A | |
| 5 | g.156344558_156344559insCA | CA2522233116 | SGCD | c.73_74insCA (p.Val25AlafsTer20) c.70_71insCA (p.Val24AlafsTer20) n.254+2894_254+2895insTG | |
| 5 | g.156344559T>A | CA362007644 | SGCD | c.74T>A (p.Val25Glu) c.71T>A (p.Val24Glu) n.254+2894A>T | |
| 5 | g.156344559T>C | CA362007645 | SGCD | c.74T>C (p.Val25Ala) c.71T>C (p.Val24Ala) n.254+2894A>G | |
| 5 | g.156344559T>G | CA362007646 | SGCD | c.74T>G (p.Val25Gly) c.71T>G (p.Val24Gly) n.254+2894A>C | dbSNP |
| 5 | g.156344559T= | CA1593661184 | SGCD | c.74T= (p.Val25=) c.71T= (p.Val24=) n.254+2894A= | |
| 5 | g.156344560G>A | CA447387391 | SGCD | c.75G>A (p.Val25=) c.72G>A (p.Val24=) n.254+2893C>T | gnomAD v4 |
| 5 | g.156344560G>C | CA447387392 | SGCD | c.75G>C (p.Val25=) c.72G>C (p.Val24=) n.254+2893C>G | |
| 5 | g.156344560G>T | CA447387393 | SGCD | c.75G>T (p.Val25=) c.72G>T (p.Val24=) n.254+2893C>A | |
| 5 | g.156344561G>A | CA3530479 | SGCD | c.76G>A (p.Gly26Arg) c.73G>A (p.Gly25Arg) n.254+2892C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344561G>C | CA362007647 | SGCD | c.76G>C (p.Gly26Arg) c.73G>C (p.Gly25Arg) n.254+2892C>G | dbSNP |
| 5 | g.156344561G= | CA1593661185 | SGCD | c.76G= (p.Gly26=) c.73G= (p.Gly25=) n.254+2892C= | |
| 5 | g.156344561G>T | CA362007648 | SGCD | c.76G>T (p.Gly26Trp) c.73G>T (p.Gly25Trp) n.254+2892C>A | |
| 5 | g.156344562G>A | CA3530480 | SGCD | c.77G>A (p.Gly26Glu) c.74G>A (p.Gly25Glu) n.254+2891C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344562G>C | CA362007650 | SGCD | c.77G>C (p.Gly26Ala) c.74G>C (p.Gly25Ala) n.254+2891C>G | |
| 5 | g.156344562G= | CA1593661186 | SGCD | c.77G= (p.Gly26=) c.74G= (p.Gly25=) n.254+2891C= | |
| 5 | g.156344562G>T | CA362007649 | SGCD | c.77G>T (p.Gly26Val) c.74G>T (p.Gly25Val) n.254+2891C>A | |
| 5 | g.156344562_156344564del | CA2538407895 | SGCD | c.77_79del (p.Gly26_Ile27delinsVal) c.74_76del (p.Gly25_Ile26delinsVal) n.254+2889_254+2891del | |
| 5 | g.156344563G>A | CA447387394 | SGCD | c.78G>A (p.Gly26=) c.75G>A (p.Gly25=) n.254+2890C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344563G>C | CA447387395 | SGCD | c.78G>C (p.Gly26=) c.75G>C (p.Gly25=) n.254+2890C>G | |
| 5 | g.156344563G= | CA1593661187 | SGCD | c.78G= (p.Gly26=) c.75G= (p.Gly25=) n.254+2890C= | |
| 5 | g.156344563G>T | CA447387396 | SGCD | c.78G>T (p.Gly26=) c.75G>T (p.Gly25=) n.254+2890C>A | |
| 5 | g.156344564A= | CA1593661188 | SGCD | c.79A= (p.Ile27=) c.76A= (p.Ile26=) n.254+2889T= | |
| 5 | g.156344564A>C | CA362007651 | SGCD | c.79A>C (p.Ile27Leu) c.76A>C (p.Ile26Leu) n.254+2889T>G | |
| 5 | g.156344564A>G | CA3530481 | SGCD | c.79A>G (p.Ile27Val) c.76A>G (p.Ile26Val) n.254+2889T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344564A>T | CA362007652 | SGCD | c.79A>T (p.Ile27Phe) c.76A>T (p.Ile26Phe) n.254+2889T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344565T>A | CA362007653 | SGCD | c.80T>A (p.Ile27Asn) c.77T>A (p.Ile26Asn) n.254+2888A>T | |
| 5 | g.156344565T>C | CA362007654 | SGCD | c.80T>C (p.Ile27Thr) c.77T>C (p.Ile26Thr) n.254+2888A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156344565T>G | CA362007655 | SGCD | c.80T>G (p.Ile27Ser) c.77T>G (p.Ile26Ser) n.254+2888A>C | |
| 5 | g.156344565T= | CA1593661189 | SGCD | c.80T= (p.Ile27=) c.77T= (p.Ile26=) n.254+2888A= | |
| 5 | g.156344566T>A | CA447387398 | SGCD | c.81T>A (p.Ile27=) c.78T>A (p.Ile26=) n.254+2887A>T | |
| 5 | g.156344566T>C | CA447387397 | SGCD | c.81T>C (p.Ile27=) c.78T>C (p.Ile26=) n.254+2887A>G | |
| 5 | g.156344566T>G | CA362007656 | SGCD | c.81T>G (p.Ile27Met) c.78T>G (p.Ile26Met) n.254+2887A>C | |
| 5 | g.156344566_156344570del | CA2522454571 | SGCD | c.81_85del (p.Ile27MetfsTer?) c.78_82del (p.Ile26MetfsTer?) n.254+2883_254+2887del | |
| 5 | g.156344567T>A | CA362007657 | SGCD | c.82T>A (p.Tyr28Asn) c.79T>A (p.Tyr27Asn) n.254+2886A>T | |
| 5 | g.156344567T>C | CA362007658 | SGCD | c.82T>C (p.Tyr28His) c.79T>C (p.Tyr27His) n.254+2886A>G | |
| 5 | g.156344567T>G | CA362007659 | SGCD | c.82T>G (p.Tyr28Asp) c.79T>G (p.Tyr27Asp) n.254+2886A>C | |
| 5 | g.156344568A>C | CA362007662 | SGCD | c.83A>C (p.Tyr28Ser) c.80A>C (p.Tyr27Ser) n.254+2885T>G | |
| 5 | g.156344568A>G | CA362007661 | SGCD | c.83A>G (p.Tyr28Cys) c.80A>G (p.Tyr27Cys) n.254+2885T>C | |
| 5 | g.156344568A>T | CA362007660 | SGCD | c.83A>T (p.Tyr28Phe) c.80A>T (p.Tyr27Phe) n.254+2885T>A | |
| 5 | g.156344569T>A | CA362007663 | SGCD | c.84T>A (p.Tyr28Ter) c.81T>A (p.Tyr27Ter) n.254+2884A>T | gnomAD v4 |
| 5 | g.156344569T>C | CA284623 | SGCD | c.84T>C (p.Tyr28=) c.81T>C (p.Tyr27=) n.254+2884A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156344569T>G | CA362007664 | SGCD | c.84T>G (p.Tyr28Ter) c.81T>G (p.Tyr27Ter) n.254+2884A>C | |
| 5 | g.156344569T= | CA1593661190 | SGCD | c.84T= (p.Tyr28=) c.81T= (p.Tyr27=) n.254+2884A= | |
| 5 | g.156344570G>A | CA3530482 | SGCD | c.85G>A (p.Gly29Ser) c.82G>A (p.Gly28Ser) n.254+2883C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.156344570G>C | CA362007665 | SGCD | c.85G>C (p.Gly29Arg) c.82G>C (p.Gly28Arg) n.254+2883C>G | |
| 5 | g.156344570G= | CA1593661191 | SGCD | c.85G= (p.Gly29=) c.82G= (p.Gly28=) n.254+2883C= | |
| 5 | g.156344570G>T | CA362007666 | SGCD | c.85G>T (p.Gly29Cys) c.82G>T (p.Gly28Cys) n.254+2883C>A | dbSNP gnomAD v4 |
| 5 | g.156344571G>A | CA362007667 | SGCD | c.86G>A (p.Gly29Asp) c.83G>A (p.Gly28Asp) n.254+2882C>T | |
| 5 | g.156344571G>C | CA362007668 | SGCD | c.86G>C (p.Gly29Ala) c.83G>C (p.Gly28Ala) n.254+2882C>G | |
| 5 | g.156344571G= | CA1593661192 | SGCD | c.86G= (p.Gly29=) c.83G= (p.Gly28=) n.254+2882C= | |
| 5 | g.156344571G>T | CA3530483 | SGCD | c.86G>T (p.Gly29Val) c.83G>T (p.Gly28Val) n.254+2882C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344572C>A | CA3530484 | SGCD | c.87C>A (p.Gly29=) c.84C>A (p.Gly28=) n.254+2881G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156344572C= | CA1593661193 | SGCD | c.87C= (p.Gly29=) c.84C= (p.Gly28=) n.254+2881G= | |
| 5 | g.156344572C>G | CA447387400 | SGCD | c.87C>G (p.Gly29=) c.84C>G (p.Gly28=) n.254+2881G>C | |
| 5 | g.156344572C>T | CA447387399 | SGCD | c.87C>T (p.Gly29=) c.84C>T (p.Gly28=) n.254+2881G>A | |
| 5 | g.156344573T>A | CA362007669 | SGCD | c.88T>A (p.Trp30Arg) c.85T>A (p.Trp29Arg) n.254+2880A>T | |
| 5 | g.156344573T>C | CA362007671 | SGCD | c.88T>C (p.Trp30Arg) c.85T>C (p.Trp29Arg) n.254+2880A>G | |
| 5 | g.156344573T>G | CA362007670 | SGCD | c.88T>G (p.Trp30Gly) c.85T>G (p.Trp29Gly) n.254+2880A>C | |
| 5 | g.156344573T= | CA1593661194 | SGCD | c.88T= (p.Trp30=) c.85T= (p.Trp29=) n.254+2880A= | |
| 5 | g.156344573_156344574insCC | CA2531990522 | SGCD | c.88_89insCC (p.Trp30SerfsTer15) c.85_86insCC (p.Trp29SerfsTer15) n.254+2879_254+2880insGG | |
| 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 |
| 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 |