| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18787599_18787605delinsTGTCCTC | CA2326526086 | COMP | c.1021_1027delinsGAGGACA (p.Glu341=) c.862_868delinsGAGGACA (p.Glu288=) c.922_928delinsGAGGACA (p.Glu308=) | |
| 19 | g.18787604_18787609del | CA16620814 | COMP | c.1021_1026del (p.Glu341_Asp342del) c.862_867del (p.Glu288_Asp289del) c.922_927del (p.Glu308_Asp309del) | ClinVar dbSNP |
| 19 | g.18787603_18787605del | CA2695228442 | COMP | c.1023_1025del (p.Glu341del) c.864_866del (p.Glu288del) c.924_926del (p.Glu308del) | |
| 19 | g.18787602C>A | CA120166 | COMP | c.1024G>T (p.Asp342Tyr) c.865G>T (p.Asp289Tyr) c.925G>T (p.Asp309Tyr) | ClinVar dbSNP |
| 19 | g.18787602C= | CA2326526099 | COMP | c.1024G= (p.Asp342=) c.865G= (p.Asp289=) c.925G= (p.Asp309=) | |
| 19 | g.18787602C>G | CA404888619 | COMP | c.1024G>C (p.Asp342His) c.865G>C (p.Asp289His) c.925G>C (p.Asp309His) | |
| 19 | g.18787602C>T | CA404888622 | COMP | c.1024G>A (p.Asp342Asn) c.865G>A (p.Asp289Asn) c.925G>A (p.Asp309Asn) | |
| 19 | g.18787603C>A | CA404888625 | COMP | c.1023G>T (p.Glu341Asp) c.864G>T (p.Glu288Asp) c.924G>T (p.Glu308Asp) | |
| 19 | g.18787603C>G | CA404888626 | COMP | c.1023G>C (p.Glu341Asp) c.864G>C (p.Glu288Asp) c.924G>C (p.Glu308Asp) | |
| 19 | g.18787603C>T | CA506053103 | COMP | c.1023G>A (p.Glu341=) c.864G>A (p.Glu288=) c.924G>A (p.Glu308=) | |
| 19 | g.18787604T>A | CA404888631 | COMP | c.1022A>T (p.Glu341Val) c.863A>T (p.Glu288Val) c.923A>T (p.Glu308Val) | |
| 19 | g.18787604T>C | CA404888628 | COMP | c.1022A>G (p.Glu341Gly) c.863A>G (p.Glu288Gly) c.923A>G (p.Glu308Gly) | dbSNP |
| 19 | g.18787604T>G | CA404888629 | COMP | c.1022A>C (p.Glu341Ala) c.863A>C (p.Glu288Ala) c.923A>C (p.Glu308Ala) | |
| 19 | g.18787604T= | CA2326526106 | COMP | c.1022A= (p.Glu341=) c.863A= (p.Glu288=) c.923A= (p.Glu308=) | |
| 19 | g.18787605C>A | CA404888632 | COMP | c.1021G>T (p.Glu341Ter) c.862G>T (p.Glu288Ter) c.922G>T (p.Glu308Ter) | |
| 19 | g.18787605C= | CA2326526114 | COMP | c.1021G= (p.Glu341=) c.862G= (p.Glu288=) c.922G= (p.Glu308=) | |
| 19 | g.18787605C>G | CA404888635 | COMP | c.1021G>C (p.Glu341Gln) c.862G>C (p.Glu288Gln) c.922G>C (p.Glu308Gln) | gnomAD v4 |
| 19 | g.18787605C>T | CA9316558 | COMP | c.1021G>A (p.Glu341Lys) c.862G>A (p.Glu288Lys) c.922G>A (p.Glu308Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.18787606G>A | CA506053104 | COMP | c.1020C>T (p.Asp340=) c.861C>T (p.Asp287=) c.921C>T (p.Asp307=) | gnomAD v4 |
| 19 | g.18787606G>C | CA306256700 | COMP | c.1020C>G (p.Asp340Glu) c.861C>G (p.Asp287Glu) c.921C>G (p.Asp307Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18787606G= | CA2326526116 | COMP | c.1020C= (p.Asp340=) c.861C= (p.Asp287=) c.921C= (p.Asp307=) | |
| 19 | g.18787606G>T | CA404888639 | COMP | c.1020C>A (p.Asp340Glu) c.861C>A (p.Asp287Glu) c.921C>A (p.Asp307Glu) | |
| 19 | g.18787607T>A | CA404888642 | COMP | c.1019A>T (p.Asp340Val) c.860A>T (p.Asp287Val) c.920A>T (p.Asp307Val) | |
| 19 | g.18787607T>C | CA404888644 | COMP | c.1019A>G (p.Asp340Gly) c.860A>G (p.Asp287Gly) c.920A>G (p.Asp307Gly) | |
| 19 | g.18787607T>G | CA404888646 | COMP | c.1019A>C (p.Asp340Ala) c.860A>C (p.Asp287Ala) c.920A>C (p.Asp307Ala) | |
| 19 | g.18787608C>A | CA404888648 | COMP | c.1018G>T (p.Asp340Tyr) c.859G>T (p.Asp287Tyr) c.919G>T (p.Asp307Tyr) | |
| 19 | g.18787608C>G | CA404888649 | COMP | c.1018G>C (p.Asp340His) c.859G>C (p.Asp287His) c.919G>C (p.Asp307His) | COSMIC |
| 19 | g.18787608C>T | CA404888650 | COMP | c.1018G>A (p.Asp340Asn) c.859G>A (p.Asp287Asn) c.919G>A (p.Asp307Asn) | gnomAD v4 |
| 19 | g.18787609C>A | CA506053105 | COMP | c.1017G>T (p.Thr339=) c.858G>T (p.Thr286=) c.918G>T (p.Thr306=) | |
| 19 | g.18787609C= | CA2326526119 | COMP | c.1017G= (p.Thr339=) c.858G= (p.Thr286=) c.918G= (p.Thr306=) | |
| 19 | g.18787609C>G | CA506053106 | COMP | c.1017G>C (p.Thr339=) c.858G>C (p.Thr286=) c.918G>C (p.Thr306=) | gnomAD v4 |
| 19 | g.18787609C>T | CA506053107 | COMP | c.1017G>A (p.Thr339=) c.858G>A (p.Thr286=) c.918G>A (p.Thr306=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18787610G>A | CA9316559 | COMP | c.1016C>T (p.Thr339Met) c.857C>T (p.Thr286Met) c.917C>T (p.Thr306Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18787610G>C | CA404888654 | COMP | c.1016C>G (p.Thr339Arg) c.857C>G (p.Thr286Arg) c.917C>G (p.Thr306Arg) | |
| 19 | g.18787610G= | CA2326526121 | COMP | c.1016C= (p.Thr339=) c.857C= (p.Thr286=) c.917C= (p.Thr306=) | |
| 19 | g.18787610G>T | CA404888653 | COMP | c.1016C>A (p.Thr339Lys) c.857C>A (p.Thr286Lys) c.917C>A (p.Thr306Lys) | |
| 19 | g.18787611T>A | CA404888656 | COMP | c.1015A>T (p.Thr339Ser) c.856A>T (p.Thr286Ser) c.916A>T (p.Thr306Ser) | |
| 19 | g.18787611T>C | CA404888658 | COMP | c.1015A>G (p.Thr339Ala) c.856A>G (p.Thr286Ala) c.916A>G (p.Thr306Ala) | gnomAD v4 |
| 19 | g.18787611T>G | CA404888660 | COMP | c.1015A>C (p.Thr339Pro) c.856A>C (p.Thr286Pro) c.916A>C (p.Thr306Pro) | |
| 19 | g.18787611_18787626delinsTGTTGCGCTGGTCTGG | CA2326526124 | COMP | c.1000_1015delinsCCAGACCAGCGCAACA (p.Pro334=) c.841_856delinsCCAGACCAGCGCAACA (p.Pro281=) c.901_916delinsCCAGACCAGCGCAACA (p.Pro301=) | |
| 19 | g.18787612G>A | CA306256713 | COMP | c.1014C>T (p.Asn338=) c.855C>T (p.Asn285=) c.915C>T (p.Asn305=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18787612G>C | CA404888676 | COMP | c.1014C>G (p.Asn338Lys) c.855C>G (p.Asn285Lys) c.915C>G (p.Asn305Lys) | |
| 19 | g.18787612G= | CA2326526130 | COMP | c.1014C= (p.Asn338=) c.855C= (p.Asn285=) c.915C= (p.Asn305=) | |
| 19 | g.18787612G>T | CA404888678 | COMP | c.1014C>A (p.Asn338Lys) c.855C>A (p.Asn285Lys) c.915C>A (p.Asn305Lys) | |
| 19 | g.18787615_18787629del | CA915952951 | COMP | c.1000_1014del (p.Pro334_Asn338del) c.841_855del (p.Pro281_Asn285del) c.901_915del (p.Pro301_Asn305del) | ClinVar dbSNP |
| 19 | g.18787613T>A | CA404888681 | COMP | c.1013A>T (p.Asn338Ile) c.854A>T (p.Asn285Ile) c.914A>T (p.Asn305Ile) | |
| 19 | g.18787613T>C | CA404888682 | COMP | c.1013A>G (p.Asn338Ser) c.854A>G (p.Asn285Ser) c.914A>G (p.Asn305Ser) | |
| 19 | g.18787613T>G | CA404888683 | COMP | c.1013A>C (p.Asn338Thr) c.854A>C (p.Asn285Thr) c.914A>C (p.Asn305Thr) | |
| 19 | g.18787614T>A | CA404888684 | COMP | c.1012A>T (p.Asn338Tyr) c.853A>T (p.Asn285Tyr) c.913A>T (p.Asn305Tyr) | |
| 19 | g.18787614T>C | CA404888685 | COMP | c.1012A>G (p.Asn338Asp) c.853A>G (p.Asn285Asp) c.913A>G (p.Asn305Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |