| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.24204860_24205385delinsGTTTTTAAGGTTGATCAGCCACATAGTACCTTAGAGGGTTTAATTCATACAGGTATAGGAACAATTTGTAGGAGATAACACAAAACTTGGAAAAAAAACACTATAATTGTCTTACACATATTTTTTAAGGCATGGAGATTACCTGATCGACTGGAACCTCAACCTGAGTATCTTCATCTTCTTGGACTTCTGCTGCCCCCCGTGTTTCAGACCTCTCTGCTCCAGCTTTGAAAATGCCTTCATCTATTGAGACAAACACACAGTGAAAATCAAAATCCAATTGTGACATCGTGTGGCTGAATGCTGGAATTACAATCAAATGCTTATTTTTAATAGACATTTGGATTCCCTTTTTAGTTGATAGTATTTTTGTGCACCCCCTCCTCCGACCACCACACCACCCCCAGTTGTTCCACATTTTCATTGAGAAAACATTCAGTGGTCAAAACAAGGCTGACCCAGCAGGGTAAAGTTCTGTCGAAGCTCCTGTTCACCCTTTGGCTACTGATTTACTAACATAGCCCTT | CA1616385196 | DCDC2 | c.923-283_1023+142delinsAAGGGCTATGTTAGTAAATCAGTAGCCAAAGGGTGAACAGGAGCTTCGACAGAACTTTACCCTGCTGGGTCAGCCTTGTTTTGACCACTGAATGTTTTCTCAATGAAAATGTGGAACAACTGGGGGTGGTGTGGTGGTCGGAGGAGGGGGTGCACAAAAATACTATCAACTAAAAAGGGAATCCAAATGTCTATTAAAAATAAGCATTTGATTGTAATTCCAGCATTCAGCCACACGATGTCACAATTGGATTTTGATTTTCACTGTGTGTTTGTCTCAATAGATGAAGGCATTTTCAAAGCTGGAGCAGAGAGGTCTGAAACACGGGGGGCAGCAGAAGTCCAAGAAGATGAAGATACTCAGGTTGAGGTTCCAGTCGATCAGGTAATCTCCATGCCTTAAAAAATATGTGTAAGACAATTATAGTGTTTTTTTTCCAAGTTTTGTGTTATCTCCTACAAATTGTTCCTATACCTGTATGAATTAAACCCTCTAAGGTACTATGTGGCTGATCAACCTTAAAAAC | |
| 6 | g.24204862_24205386del | CA1139659452 | DCDC2 | c.923-283_1023+141del | ClinVar dbSNP |
| 6 | g.24205008del | CA2677514571 | DCDC2 | c.1017del (p.Asp340IlefsTer7) c.276del (p.Asp93IlefsTer7) | gnomAD v4 |
| 6 | g.24205008G>A | CA3654542 | DCDC2 | c.1017C>T (p.Val339=) c.276C>T (p.Val92=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24205008G>C | CA448963289 | DCDC2 | c.1017C>G (p.Val339=) c.276C>G (p.Val92=) | |
| 6 | g.24205008G= | CA1616385257 | DCDC2 | c.1017C= (p.Val339=) c.276C= (p.Val92=) | |
| 6 | g.24205008G>T | CA448963288 | DCDC2 | c.1017C>A (p.Val339=) c.276C>A (p.Val92=) | gnomAD v4 |
| 6 | g.24205009A>C | CA363277395 | DCDC2 | c.1016T>G (p.Val339Gly) c.275T>G (p.Val92Gly) | |
| 6 | g.24205009A>G | CA363277396 | DCDC2 | c.1016T>C (p.Val339Ala) c.275T>C (p.Val92Ala) | |
| 6 | g.24205009A>T | CA363277397 | DCDC2 | c.1016T>A (p.Val339Asp) c.275T>A (p.Val92Asp) | |
| 6 | g.24205010C>A | CA363277398 | DCDC2 | c.1015G>T (p.Val339Phe) c.274G>T (p.Val92Phe) | gnomAD v4 |
| 6 | g.24205010C>G | CA363277399 | DCDC2 | c.1015G>C (p.Val339Leu) c.274G>C (p.Val92Leu) | |
| 6 | g.24205010C>T | CA363277400 | DCDC2 | c.1015G>A (p.Val339Ile) c.274G>A (p.Val92Ile) | |
| 6 | g.24205011T>A | CA448963291 | DCDC2 | c.1014A>T (p.Pro338=) c.273A>T (p.Pro91=) | |
| 6 | g.24205011T>C | CA448963293 | DCDC2 | c.1014A>G (p.Pro338=) c.273A>G (p.Pro91=) | gnomAD v4 |
| 6 | g.24205011T>G | CA448963292 | DCDC2 | c.1014A>C (p.Pro338=) c.273A>C (p.Pro91=) | |
| 6 | g.24205012G>A | CA363277403 | DCDC2 | c.1013C>T (p.Pro338Leu) c.272C>T (p.Pro91Leu) | |
| 6 | g.24205012G>C | CA363277402 | DCDC2 | c.1013C>G (p.Pro338Arg) c.272C>G (p.Pro91Arg) | |
| 6 | g.24205012G>T | CA363277401 | DCDC2 | c.1013C>A (p.Pro338Gln) c.272C>A (p.Pro91Gln) | |
| 6 | g.24205013G>A | CA363277404 | DCDC2 | c.1012C>T (p.Pro338Ser) c.271C>T (p.Pro91Ser) | gnomAD v4 |
| 6 | g.24205013G>C | CA363277405 | DCDC2 | c.1012C>G (p.Pro338Ala) c.271C>G (p.Pro91Ala) | |
| 6 | g.24205013G>T | CA363277406 | DCDC2 | c.1012C>A (p.Pro338Thr) c.271C>A (p.Pro91Thr) | |
| 6 | g.24205014A>C | CA448963294 | DCDC2 | c.1011T>G (p.Val337=) c.270T>G (p.Val90=) | |
| 6 | g.24205014A>G | CA448963296 | DCDC2 | c.1011T>C (p.Val337=) c.270T>C (p.Val90=) | |
| 6 | g.24205014A>T | CA448963297 | DCDC2 | c.1011T>A (p.Val337=) c.270T>A (p.Val90=) | |
| 6 | g.24205015A>C | CA363277407 | DCDC2 | c.1010T>G (p.Val337Gly) c.269T>G (p.Val90Gly) | |
| 6 | g.24205015A>G | CA363277408 | DCDC2 | c.1010T>C (p.Val337Ala) c.269T>C (p.Val90Ala) | |
| 6 | g.24205015A>T | CA363277409 | DCDC2 | c.1010T>A (p.Val337Asp) c.269T>A (p.Val90Asp) | |
| 6 | g.24205016C>A | CA363277410 | DCDC2 | c.1009G>T (p.Val337Phe) c.268G>T (p.Val90Phe) | |
| 6 | g.24205016C= | CA1616385258 | DCDC2 | c.1009G= (p.Val337=) c.268G= (p.Val90=) | |
| 6 | g.24205016C>G | CA3654543 | DCDC2 | c.1009G>C (p.Val337Leu) c.268G>C (p.Val90Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24205016C>T | CA363277411 | DCDC2 | c.1009G>A (p.Val337Ile) c.268G>A (p.Val90Ile) | |
| 6 | g.24205017C>A | CA363277412 | DCDC2 | c.1008G>T (p.Glu336Asp) c.267G>T (p.Glu89Asp) | |
| 6 | g.24205017C>G | CA363277413 | DCDC2 | c.1008G>C (p.Glu336Asp) c.267G>C (p.Glu89Asp) | gnomAD v4 |
| 6 | g.24205017C>T | CA448963300 | DCDC2 | c.1008G>A (p.Glu336=) c.267G>A (p.Glu89=) | gnomAD v4 |
| 6 | g.24205018T>A | CA363277414 | DCDC2 | c.1007A>T (p.Glu336Val) c.266A>T (p.Glu89Val) | |
| 6 | g.24205018T>C | CA363277415 | DCDC2 | c.1007A>G (p.Glu336Gly) c.266A>G (p.Glu89Gly) | |
| 6 | g.24205018T>G | CA363277416 | DCDC2 | c.1007A>C (p.Glu336Ala) c.266A>C (p.Glu89Ala) | |
| 6 | g.24205019C>A | CA363277418 | DCDC2 | c.1006G>T (p.Glu336Ter) c.265G>T (p.Glu89Ter) | |
| 6 | g.24205019C>G | CA363277419 | DCDC2 | c.1006G>C (p.Glu336Gln) c.265G>C (p.Glu89Gln) | |
| 6 | g.24205019C>T | CA363277417 | DCDC2 | c.1006G>A (p.Glu336Lys) c.265G>A (p.Glu89Lys) | |
| 6 | g.24205020A>C | CA448963301 | DCDC2 | c.1005T>G (p.Val335=) c.264T>G (p.Val88=) | |
| 6 | g.24205020A>G | CA448963303 | DCDC2 | c.1005T>C (p.Val335=) c.264T>C (p.Val88=) | |
| 6 | g.24205020A>T | CA448963304 | DCDC2 | c.1005T>A (p.Val335=) c.264T>A (p.Val88=) | |
| 6 | g.24205021A>C | CA363277420 | DCDC2 | c.1004T>G (p.Val335Gly) c.263T>G (p.Val88Gly) | |
| 6 | g.24205021A>G | CA363277421 | DCDC2 | c.1004T>C (p.Val335Ala) c.263T>C (p.Val88Ala) | |
| 6 | g.24205021A>T | CA363277422 | DCDC2 | c.1004T>A (p.Val335Asp) c.263T>A (p.Val88Asp) | |
| 6 | g.24205022C>A | CA363277423 | DCDC2 | c.1003G>T (p.Val335Phe) c.262G>T (p.Val88Phe) | gnomAD v4 |
| 6 | g.24205022C= | CA1616385259 | DCDC2 | c.1003G= (p.Val335=) c.262G= (p.Val88=) | |
| 6 | g.24205022C>G | CA363277424 | DCDC2 | c.1003G>C (p.Val335Leu) c.262G>C (p.Val88Leu) | gnomAD v4 |