| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.156594940G>A | CA362010213 | SGCD | c.391G>A (p.Ala131Thr) c.388G>A (p.Ala130Thr) | |
| 5 | g.156594940G>C | CA340756 | SGCD | c.391G>C (p.Ala131Pro) c.388G>C (p.Ala130Pro) | ClinVar dbSNP |
| 5 | g.156594940G= | CA1593779120 | SGCD | c.391G= (p.Ala131=) c.388G= (p.Ala130=) | |
| 5 | g.156594940G>T | CA362010215 | SGCD | c.391G>T (p.Ala131Ser) c.388G>T (p.Ala130Ser) | |
| 5 | g.156594941C>A | CA362010222 | SGCD | c.392C>A (p.Ala131Asp) c.389C>A (p.Ala130Asp) | gnomAD v4 |
| 5 | g.156594941C>G | CA362010231 | SGCD | c.392C>G (p.Ala131Gly) c.389C>G (p.Ala130Gly) | |
| 5 | g.156594941C>T | CA362010228 | SGCD | c.392C>T (p.Ala131Val) c.389C>T (p.Ala130Val) | |
| 5 | g.156594942C>A | CA447388092 | SGCD | c.393C>A (p.Ala131=) c.390C>A (p.Ala130=) | dbSNP gnomAD v2 |
| 5 | g.156594942C= | CA1593779121 | SGCD | c.393C= (p.Ala131=) c.390C= (p.Ala130=) | |
| 5 | g.156594942C>G | CA447388093 | SGCD | c.393C>G (p.Ala131=) c.390C>G (p.Ala130=) | |
| 5 | g.156594942C>T | CA142630 | SGCD | c.393C>T (p.Ala131=) c.390C>T (p.Ala130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594943G>A | CA180989 | SGCD | c.394G>A (p.Val132Ile) c.391G>A (p.Val131Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594943G>C | CA362010237 | SGCD | c.394G>C (p.Val132Leu) c.391G>C (p.Val131Leu) | |
| 5 | g.156594943G= | CA1593779122 | SGCD | c.394G= (p.Val132=) c.391G= (p.Val131=) | |
| 5 | g.156594943G>T | CA3530594 | SGCD | c.394G>T (p.Val132Leu) c.391G>T (p.Val131Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594944T>A | CA362010250 | SGCD | c.395T>A (p.Val132Glu) c.392T>A (p.Val131Glu) | |
| 5 | g.156594944T>C | CA362010252 | SGCD | c.395T>C (p.Val132Ala) c.392T>C (p.Val131Ala) | |
| 5 | g.156594944T>G | CA362010258 | SGCD | c.395T>G (p.Val132Gly) c.392T>G (p.Val131Gly) | |
| 5 | g.156594945A>C | CA447388094 | SGCD | c.396A>C (p.Val132=) c.393A>C (p.Val131=) | |
| 5 | g.156594945A>G | CA447388096 | SGCD | c.396A>G (p.Val132=) c.393A>G (p.Val131=) | |
| 5 | g.156594945A>T | CA447388095 | SGCD | c.396A>T (p.Val132=) c.393A>T (p.Val131=) | |
| 5 | g.156594946G>A | CA362010261 | SGCD | c.397G>A (p.Glu133Lys) c.394G>A (p.Glu132Lys) | |
| 5 | g.156594946G>C | CA3530595 | SGCD | c.397G>C (p.Glu133Gln) c.394G>C (p.Glu132Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594946G= | CA1593779123 | SGCD | c.397G= (p.Glu133=) c.394G= (p.Glu132=) | |
| 5 | g.156594946G>T | CA362010268 | SGCD | c.397G>T (p.Glu133Ter) c.394G>T (p.Glu132Ter) | |
| 5 | g.156594947A>C | CA362010272 | SGCD | c.398A>C (p.Glu133Ala) c.395A>C (p.Glu132Ala) | |
| 5 | g.156594947A>G | CA362010271 | SGCD | c.398A>G (p.Glu133Gly) c.395A>G (p.Glu132Gly) | |
| 5 | g.156594947A>T | CA362010270 | SGCD | c.398A>T (p.Glu133Val) c.395A>T (p.Glu132Val) | |
| 5 | g.156594948A= | CA1593779124 | SGCD | c.399A= (p.Glu133=) c.396A= (p.Glu132=) | |
| 5 | g.156594948A>C | CA3530596 | SGCD | c.399A>C (p.Glu133Asp) c.396A>C (p.Glu132Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594948A>G | CA447388097 | SGCD | c.399A>G (p.Glu133=) c.396A>G (p.Glu132=) | |
| 5 | g.156594948A>T | CA362010278 | SGCD | c.399A>T (p.Glu133Asp) c.396A>T (p.Glu132Asp) | |
| 5 | g.156594949del | CA2695198787 | SGCD | c.400del (p.Ala134LeufsTer8) c.397del (p.Ala133LeufsTer8) | |
| 5 | g.156594949G>A | CA362010288 | SGCD | c.400G>A (p.Ala134Thr) c.397G>A (p.Ala133Thr) | |
| 5 | g.156594949G>C | CA362010291 | SGCD | c.400G>C (p.Ala134Pro) c.397G>C (p.Ala133Pro) | |
| 5 | g.156594949G>T | CA362010293 | SGCD | c.400G>T (p.Ala134Ser) c.397G>T (p.Ala133Ser) | |
| 5 | g.156594950C>A | CA362010296 | SGCD | c.401C>A (p.Ala134Asp) c.398C>A (p.Ala133Asp) | |
| 5 | g.156594950C= | CA1593779125 | SGCD | c.401C= (p.Ala134=) c.398C= (p.Ala133=) | |
| 5 | g.156594950C>G | CA362010299 | SGCD | c.401C>G (p.Ala134Gly) c.398C>G (p.Ala133Gly) | |
| 5 | g.156594950C>T | CA3530597 | SGCD | c.401C>T (p.Ala134Val) c.398C>T (p.Ala133Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594951T>A | CA447388098 | SGCD | c.402T>A (p.Ala134=) c.399T>A (p.Ala133=) | dbSNP |
| 5 | g.156594951T>C | CA308776 | SGCD | c.402T>C (p.Ala134=) c.399T>C (p.Ala133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594951T>G | CA447388099 | SGCD | c.402T>G (p.Ala134=) c.399T>G (p.Ala133=) | |
| 5 | g.156594951T= | CA1593779126 | SGCD | c.402T= (p.Ala134=) c.399T= (p.Ala133=) | |
| 5 | g.156594952del | CA2676178498 | SGCD | c.403del (p.Tyr135MetfsTer7) c.400del (p.Tyr134MetfsTer7) | gnomAD v4 |
| 5 | g.156594952T>A | CA362010310 | SGCD | c.403T>A (p.Tyr135Asn) c.400T>A (p.Tyr134Asn) | |
| 5 | g.156594952T>C | CA362010309 | SGCD | c.403T>C (p.Tyr135His) c.400T>C (p.Tyr134His) | |
| 5 | g.156594952T>G | CA362010308 | SGCD | c.403T>G (p.Tyr135Asp) c.400T>G (p.Tyr134Asp) | |
| 5 | g.156594953A>C | CA362010311 | SGCD | c.404A>C (p.Tyr135Ser) c.401A>C (p.Tyr134Ser) | |
| 5 | g.156594953A>G | CA362010316 | SGCD | c.404A>G (p.Tyr135Cys) c.401A>G (p.Tyr134Cys) |