| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18787496_18787507del | CA2695228439 | COMP | c.1123_1134del (p.Ile375_Asp378del) c.964_975del (p.Ile322_Asp325del) c.1024_1035del (p.Ile342_Asp345del) | ClinVar |
| 19 | g.18787502_18787507del | CA2580096748 | COMP | c.1123_1128del (p.Ile375_Asp376del) c.964_969del (p.Ile322_Asp323del) c.1024_1029del (p.Ile342_Asp343del) | ClinVar |
| 19 | g.18787502A= | CA2326526450 | COMP | c.1124T= (p.Ile375=) c.965T= (p.Ile322=) c.1025T= (p.Ile342=) | |
| 19 | g.18787502A>C | CA404887733 | COMP | c.1124T>G (p.Ile375Ser) c.965T>G (p.Ile322Ser) c.1025T>G (p.Ile342Ser) | |
| 19 | g.18787502A>G | CA404887735 | COMP | c.1124T>C (p.Ile375Thr) c.965T>C (p.Ile322Thr) c.1025T>C (p.Ile342Thr) | ClinVar |
| 19 | g.18787502A>T | CA404887736 | COMP | c.1124T>A (p.Ile375Asn) c.965T>A (p.Ile322Asn) c.1025T>A (p.Ile342Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18787503T>A | CA404887740 | COMP | c.1123A>T (p.Ile375Phe) c.964A>T (p.Ile322Phe) c.1024A>T (p.Ile342Phe) | |
| 19 | g.18787503T>C | CA404887746 | COMP | c.1123A>G (p.Ile375Val) c.964A>G (p.Ile322Val) c.1024A>G (p.Ile342Val) | gnomAD v4 |
| 19 | g.18787503T>G | CA404887744 | COMP | c.1123A>C (p.Ile375Leu) c.964A>C (p.Ile322Leu) c.1024A>C (p.Ile342Leu) | |
| 19 | g.18787503T= | CA2326526453 | COMP | c.1123A= (p.Ile375=) c.964A= (p.Ile322=) c.1024A= (p.Ile342=) | |
| 19 | g.18787504G>A | CA506053056 | COMP | c.1122C>T (p.Asp374=) c.963C>T (p.Asp321=) c.1023C>T (p.Asp341=) | gnomAD v4 |
| 19 | g.18787504G>C | CA404887748 | COMP | c.1122C>G (p.Asp374Glu) c.963C>G (p.Asp321Glu) c.1023C>G (p.Asp341Glu) | |
| 19 | g.18787504G>T | CA404887750 | COMP | c.1122C>A (p.Asp374Glu) c.963C>A (p.Asp321Glu) c.1023C>A (p.Asp341Glu) | |
| 19 | g.18787511_18787513dup | CA632375736 | COMP | c.1120_1122dup (p.Asp374_Ile375insAsp) c.961_963dup (p.Asp321_Ile322insAsp) c.1021_1023dup (p.Asp341_Ile342insAsp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18787511_18787513del | CA2580613096 | COMP | c.1120_1122del (p.Asp374del) c.961_963del (p.Asp321del) c.1021_1023del (p.Asp341del) | ClinVar dbSNP |
| 19 | g.18787508_18787513del | CA2695228440 | COMP | c.1117_1122del (p.Asp373_Asp374del) c.958_963del (p.Asp320_Asp321del) c.1018_1023del (p.Asp340_Asp341del) | |
| 19 | g.18787505T>A | CA404887753 | COMP | c.1121A>T (p.Asp374Val) c.962A>T (p.Asp321Val) c.1022A>T (p.Asp341Val) | |
| 19 | g.18787505T>C | CA404887755 | COMP | c.1121A>G (p.Asp374Gly) c.962A>G (p.Asp321Gly) c.1022A>G (p.Asp341Gly) | |
| 19 | g.18787505T>G | CA404887765 | COMP | c.1121A>C (p.Asp374Ala) c.962A>C (p.Asp321Ala) c.1022A>C (p.Asp341Ala) | |
| 19 | g.18787506C>A | CA404887768 | COMP | c.1120G>T (p.Asp374Tyr) c.961G>T (p.Asp321Tyr) c.1021G>T (p.Asp341Tyr) | |
| 19 | g.18787506C>G | CA404887770 | COMP | c.1120G>C (p.Asp374His) c.961G>C (p.Asp321His) c.1021G>C (p.Asp341His) | |
| 19 | g.18787506C>T | CA404887773 | COMP | c.1120G>A (p.Asp374Asn) c.961G>A (p.Asp321Asn) c.1021G>A (p.Asp341Asn) | |
| 19 | g.18787507G>A | CA306256507 | COMP | c.1119C>T (p.Asp373=) c.960C>T (p.Asp320=) c.1020C>T (p.Asp340=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.18787507G>C | CA404887776 | COMP | c.1119C>G (p.Asp373Glu) c.960C>G (p.Asp320Glu) c.1020C>G (p.Asp340Glu) | gnomAD v4 |
| 19 | g.18787507G= | CA2326526457 | COMP | c.1119C= (p.Asp373=) c.960C= (p.Asp320=) c.1020C= (p.Asp340=) | |
| 19 | g.18787507G>T | CA404887780 | COMP | c.1119C>A (p.Asp373Glu) c.960C>A (p.Asp320Glu) c.1020C>A (p.Asp340Glu) | gnomAD v4 |
| 19 | g.18787508T>A | CA404887788 | COMP | c.1118A>T (p.Asp373Val) c.959A>T (p.Asp320Val) c.1019A>T (p.Asp340Val) | |
| 19 | g.18787508T>C | CA9316538 | COMP | c.1118A>G (p.Asp373Gly) c.959A>G (p.Asp320Gly) c.1019A>G (p.Asp340Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18787508T>G | CA404887785 | COMP | c.1118A>C (p.Asp373Ala) c.959A>C (p.Asp320Ala) c.1019A>C (p.Asp340Ala) | |
| 19 | g.18787508T= | CA2326526458 | COMP | c.1118A= (p.Asp373=) c.959A= (p.Asp320=) c.1019A= (p.Asp340=) | |
| 19 | g.18787509C>A | CA404887795 | COMP | c.1117G>T (p.Asp373Tyr) c.958G>T (p.Asp320Tyr) c.1018G>T (p.Asp340Tyr) | |
| 19 | g.18787509C= | CA2326526459 | COMP | c.1117G= (p.Asp373=) c.958G= (p.Asp320=) c.1018G= (p.Asp340=) | |
| 19 | g.18787509C>G | CA404887801 | COMP | c.1117G>C (p.Asp373His) c.958G>C (p.Asp320His) c.1018G>C (p.Asp340His) | |
| 19 | g.18787509C>T | CA9316539 | COMP | c.1117G>A (p.Asp373Asn) c.958G>A (p.Asp320Asn) c.1018G>A (p.Asp340Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.18787510G>A | CA506053057 | COMP | c.1116C>T (p.Asp372=) c.957C>T (p.Asp319=) c.1017C>T (p.Asp339=) | |
| 19 | g.18787510G>C | CA404887805 | COMP | c.1116C>G (p.Asp372Glu) c.957C>G (p.Asp319Glu) c.1017C>G (p.Asp339Glu) | |
| 19 | g.18787510G>T | CA404887806 | COMP | c.1116C>A (p.Asp372Glu) c.957C>A (p.Asp319Glu) c.1017C>A (p.Asp339Glu) | |
| 19 | g.18787511T>A | CA404887808 | COMP | c.1115A>T (p.Asp372Val) c.956A>T (p.Asp319Val) c.1016A>T (p.Asp339Val) | |
| 19 | g.18787511T>C | CA404887811 | COMP | c.1115A>G (p.Asp372Gly) c.956A>G (p.Asp319Gly) c.1016A>G (p.Asp339Gly) | |
| 19 | g.18787511T>G | CA404887813 | COMP | c.1115A>C (p.Asp372Ala) c.956A>C (p.Asp319Ala) c.1016A>C (p.Asp339Ala) | |
| 19 | g.18787512C>A | CA404887817 | COMP | c.1114G>T (p.Asp372Tyr) c.955G>T (p.Asp319Tyr) c.1015G>T (p.Asp339Tyr) | |
| 19 | g.18787512C>G | CA404887819 | COMP | c.1114G>C (p.Asp372His) c.955G>C (p.Asp319His) c.1015G>C (p.Asp339His) | |
| 19 | g.18787512C>T | CA404887822 | COMP | c.1114G>A (p.Asp372Asn) c.955G>A (p.Asp319Asn) c.1015G>A (p.Asp339Asn) | |
| 19 | g.18787513G>A | CA506053058 | COMP | c.1113C>T (p.Cys371=) c.954C>T (p.Cys318=) c.1014C>T (p.Cys338=) | |
| 19 | g.18787513G>C | CA404887831 | COMP | c.1113C>G (p.Cys371Trp) c.954C>G (p.Cys318Trp) c.1014C>G (p.Cys338Trp) | ClinVar dbSNP |
| 19 | g.18787513G>T | CA404887833 | COMP | c.1113C>A (p.Cys371Ter) c.954C>A (p.Cys318Ter) c.1014C>A (p.Cys338Ter) | gnomAD v4 |
| 19 | g.18787514C>A | CA404887842 | COMP | c.1112G>T (p.Cys371Phe) c.953G>T (p.Cys318Phe) c.1013G>T (p.Cys338Phe) | |
| 19 | g.18787514C= | CA2326526460 | COMP | c.1112G= (p.Cys371=) c.953G= (p.Cys318=) c.1013G= (p.Cys338=) | |
| 19 | g.18787514C>G | CA404887840 | COMP | c.1112G>C (p.Cys371Ser) c.953G>C (p.Cys318Ser) c.1013G>C (p.Cys338Ser) | |
| 19 | g.18787514C>T | CA16607768 | COMP | c.1112G>A (p.Cys371Tyr) c.953G>A (p.Cys318Tyr) c.1013G>A (p.Cys338Tyr) | ClinVar dbSNP |