| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.3585598_3586994del | CA2573054751 | GIPC3 | c.1_592del | ClinVar |
| 19 | g.3585718_3585719del | CA2573155850 | GIPC3 | c.121_122del (p.Thr41AlafsTer?) | ClinVar dbSNP |
| 19 | g.3585719C>A | CA176143 | GIPC3 | c.122C>A (p.Thr41Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3585719C= | CA2318940586 | GIPC3 | c.122C= (p.Thr41=) | |
| 19 | g.3585719C>G | CA403360107 | GIPC3 | c.122C>G (p.Thr41Arg) | |
| 19 | g.3585719C>T | CA403360106 | GIPC3 | c.122C>T (p.Thr41Met) | gnomAD v4 |
| 19 | g.3585720G>A | CA504967675 | GIPC3 | c.123G>A (p.Thr41=) | gnomAD v4 |
| 19 | g.3585720G>C | CA504967676 | GIPC3 | c.123G>C (p.Thr41=) | |
| 19 | g.3585720G= | CA2318940587 | GIPC3 | c.123G= (p.Thr41=) | |
| 19 | g.3585720G>T | CA504967677 | GIPC3 | c.123G>T (p.Thr41=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3585721C>A | CA403360108 | GIPC3 | c.124C>A (p.Gln42Lys) | gnomAD v4 |
| 19 | g.3585721C>G | CA403360109 | GIPC3 | c.124C>G (p.Gln42Glu) | |
| 19 | g.3585721C>T | CA403360111 | GIPC3 | c.124C>T (p.Gln42Ter) | gnomAD v4 |
| 19 | g.3585722A>C | CA403360114 | GIPC3 | c.125A>C (p.Gln42Pro) | |
| 19 | g.3585722A>G | CA403360115 | GIPC3 | c.125A>G (p.Gln42Arg) | |
| 19 | g.3585722A>T | CA403360117 | GIPC3 | c.125A>T (p.Gln42Leu) | |
| 19 | g.3585723G>A | CA504967678 | GIPC3 | c.126G>A (p.Gln42=) | gnomAD v4 |
| 19 | g.3585723G>C | CA403360118 | GIPC3 | c.126G>C (p.Gln42His) | |
| 19 | g.3585723G>T | CA403360120 | GIPC3 | c.126G>T (p.Gln42His) | gnomAD v4 |
| 19 | g.3585724C>A | CA403360121 | GIPC3 | c.127C>A (p.Leu43Met) | |
| 19 | g.3585724C>G | CA403360122 | GIPC3 | c.127C>G (p.Leu43Val) | |
| 19 | g.3585724C>T | CA504967679 | GIPC3 | c.127C>T (p.Leu43=) | gnomAD v4 |
| 19 | g.3585725T>A | CA403360124 | GIPC3 | c.128T>A (p.Leu43Gln) | |
| 19 | g.3585725T>C | CA403360125 | GIPC3 | c.128T>C (p.Leu43Pro) | gnomAD v4 |
| 19 | g.3585725T>G | CA403360128 | GIPC3 | c.128T>G (p.Leu43Arg) | |
| 19 | g.3585726G>A | CA504967680 | GIPC3 | c.129G>A (p.Leu43=) | gnomAD v4 |
| 19 | g.3585726G>C | CA504967681 | GIPC3 | c.129G>C (p.Leu43=) | |
| 19 | g.3585726G>T | CA504967682 | GIPC3 | c.129G>T (p.Leu43=) | gnomAD v4 |
| 19 | g.3585727G>A | CA403360129 | GIPC3 | c.130G>A (p.Ala44Thr) | gnomAD v4 |
| 19 | g.3585727G>C | CA403360141 | GIPC3 | c.130G>C (p.Ala44Pro) | |
| 19 | g.3585727G>T | CA403360131 | GIPC3 | c.130G>T (p.Ala44Ser) | gnomAD v4 |
| 19 | g.3585728C>A | CA403360142 | GIPC3 | c.131C>A (p.Ala44Glu) | dbSNP gnomAD v4 |
| 19 | g.3585728C= | CA2318940588 | GIPC3 | c.131C= (p.Ala44=) | |
| 19 | g.3585728C>G | CA403360145 | GIPC3 | c.131C>G (p.Ala44Gly) | gnomAD v4 |
| 19 | g.3585728C>T | CA403360151 | GIPC3 | c.131C>T (p.Ala44Val) | gnomAD v4 |
| 19 | g.3585729G>A | CA504967683 | GIPC3 | c.132G>A (p.Ala44=) | gnomAD v4 |
| 19 | g.3585729G>C | CA9080329 | GIPC3 | c.132G>C (p.Ala44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3585729G= | CA2318940589 | GIPC3 | c.132G= (p.Ala44=) | |
| 19 | g.3585729G>T | CA504967684 | GIPC3 | c.132G>T (p.Ala44=) | gnomAD v4 |
| 19 | g.3585730C>A | CA403360156 | GIPC3 | c.133C>A (p.His45Asn) | gnomAD v4 |
| 19 | g.3585730C>G | CA403360157 | GIPC3 | c.133C>G (p.His45Asp) | |
| 19 | g.3585730C>T | CA403360158 | GIPC3 | c.133C>T (p.His45Tyr) | gnomAD v4 |
| 19 | g.3585731A>C | CA403360159 | GIPC3 | c.134A>C (p.His45Pro) | |
| 19 | g.3585731A>G | CA403360160 | GIPC3 | c.134A>G (p.His45Arg) | gnomAD v4 |
| 19 | g.3585731A>T | CA403360161 | GIPC3 | c.134A>T (p.His45Leu) | |
| 19 | g.3585732C>A | CA403360162 | GIPC3 | c.135C>A (p.His45Gln) | |
| 19 | g.3585732C>G | CA403360163 | GIPC3 | c.135C>G (p.His45Gln) | |
| 19 | g.3585732C>T | CA504967685 | GIPC3 | c.135C>T (p.His45=) | gnomAD v4 |
| 19 | g.3585733G>A | CA403360165 | GIPC3 | c.136G>A (p.Gly46Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3585733G>C | CA403360166 | GIPC3 | c.136G>C (p.Gly46Arg) | dbSNP gnomAD v3 gnomAD v4 |