| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.745892C>A | CA397505495 | GEMIN4 | c.2151G>T (p.Glu717Asp) c.2118G>T (p.Glu706Asp) c.2163G>T (p.Glu721Asp) | |
| 17 | g.745892C>G | CA397505497 | GEMIN4 | c.2151G>C (p.Glu717Asp) c.2118G>C (p.Glu706Asp) c.2163G>C (p.Glu721Asp) | |
| 17 | g.745892C>T | CA497383664 | GEMIN4 | c.2151G>A (p.Glu717=) c.2118G>A (p.Glu706=) c.2163G>A (p.Glu721=) | gnomAD v4 |
| 17 | g.745894_745896del | CA2635153277 | GEMIN4 | c.2149_2151del (p.Glu717del) c.2116_2118del (p.Glu706del) c.2161_2163del (p.Glu721del) | gnomAD v4 |
| 17 | g.745893T>A | CA397505503 | GEMIN4 | c.2150A>T (p.Glu717Val) c.2117A>T (p.Glu706Val) c.2162A>T (p.Glu721Val) | |
| 17 | g.745893T>C | CA397505500 | GEMIN4 | c.2150A>G (p.Glu717Gly) c.2117A>G (p.Glu706Gly) c.2162A>G (p.Glu721Gly) | COSMIC COSMIC |
| 17 | g.745893T>G | CA397505501 | GEMIN4 | c.2150A>C (p.Glu717Ala) c.2117A>C (p.Glu706Ala) c.2162A>C (p.Glu721Ala) | |
| 17 | g.745894C>A | CA397505506 | GEMIN4 | c.2149G>T (p.Glu717Ter) c.2116G>T (p.Glu706Ter) c.2161G>T (p.Glu721Ter) | |
| 17 | g.745894C>G | CA397505507 | GEMIN4 | c.2149G>C (p.Glu717Gln) c.2116G>C (p.Glu706Gln) c.2161G>C (p.Glu721Gln) | |
| 17 | g.745894C>T | CA397505508 | GEMIN4 | c.2149G>A (p.Glu717Lys) c.2116G>A (p.Glu706Lys) c.2161G>A (p.Glu721Lys) | |
| 17 | g.745895C>A | CA397505511 | GEMIN4 | c.2148G>T (p.Lys716Asn) c.2115G>T (p.Lys705Asn) c.2160G>T (p.Lys720Asn) | |
| 17 | g.745895C= | CA2242474465 | GEMIN4 | c.2148G= (p.Lys716=) c.2115G= (p.Lys705=) c.2160G= (p.Lys720=) | |
| 17 | g.745895C>G | CA397505512 | GEMIN4 | c.2148G>C (p.Lys716Asn) c.2115G>C (p.Lys705Asn) c.2160G>C (p.Lys720Asn) | |
| 17 | g.745895C>T | CA8262472 | GEMIN4 | c.2148G>A (p.Lys716=) c.2115G>A (p.Lys705=) c.2160G>A (p.Lys720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.745896T>A | CA397505516 | GEMIN4 | c.2147A>T (p.Lys716Met) c.2114A>T (p.Lys705Met) c.2159A>T (p.Lys720Met) | |
| 17 | g.745896T>C | CA397505518 | GEMIN4 | c.2147A>G (p.Lys716Arg) c.2114A>G (p.Lys705Arg) c.2159A>G (p.Lys720Arg) | |
| 17 | g.745896T>G | CA397505519 | GEMIN4 | c.2147A>C (p.Lys716Thr) c.2114A>C (p.Lys705Thr) c.2159A>C (p.Lys720Thr) | |
| 17 | g.745896_745897dup | CA774955099 | GEMIN4 | c.2146_2147dup (p.Glu717ArgfsTer13) c.2113_2114dup (p.Glu706ArgfsTer13) c.2158_2159dup (p.Glu721ArgfsTer13) | dbSNP gnomAD v4 |
| 17 | g.745897T>A | CA397505521 | GEMIN4 | c.2146A>T (p.Lys716Ter) c.2113A>T (p.Lys705Ter) c.2158A>T (p.Lys720Ter) | |
| 17 | g.745897T>C | CA397505523 | GEMIN4 | c.2146A>G (p.Lys716Glu) c.2113A>G (p.Lys705Glu) c.2158A>G (p.Lys720Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.745897T>G | CA8262473 | GEMIN4 | c.2146A>C (p.Lys716Gln) c.2113A>C (p.Lys705Gln) c.2158A>C (p.Lys720Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.745897T= | CA2242474466 | GEMIN4 | c.2146A= (p.Lys716=) c.2113A= (p.Lys705=) c.2158A= (p.Lys720=) | |
| 17 | g.745898G>A | CA497383668 | GEMIN4 | c.2145C>T (p.Pro715=) c.2112C>T (p.Pro704=) c.2157C>T (p.Pro719=) | gnomAD v4 |
| 17 | g.745898G>C | CA497383670 | GEMIN4 | c.2145C>G (p.Pro715=) c.2112C>G (p.Pro704=) c.2157C>G (p.Pro719=) | dbSNP gnomAD v4 |
| 17 | g.745898G= | CA2242474467 | GEMIN4 | c.2145C= (p.Pro715=) c.2112C= (p.Pro704=) c.2157C= (p.Pro719=) | |
| 17 | g.745898G>T | CA497383669 | GEMIN4 | c.2145C>A (p.Pro715=) c.2112C>A (p.Pro704=) c.2157C>A (p.Pro719=) | gnomAD v4 |
| 17 | g.745899G>A | CA397505528 | GEMIN4 | c.2144C>T (p.Pro715Leu) c.2111C>T (p.Pro704Leu) c.2156C>T (p.Pro719Leu) | |
| 17 | g.745899G>C | CA397505529 | GEMIN4 | c.2144C>G (p.Pro715Arg) c.2111C>G (p.Pro704Arg) c.2156C>G (p.Pro719Arg) | |
| 17 | g.745899G= | CA2242474468 | GEMIN4 | c.2144C= (p.Pro715=) c.2111C= (p.Pro704=) c.2156C= (p.Pro719=) | |
| 17 | g.745899G>T | CA397505527 | GEMIN4 | c.2144C>A (p.Pro715His) c.2111C>A (p.Pro704His) c.2156C>A (p.Pro719His) | |
| 17 | g.745899_745900insACTCC | CA8262474 | GEMIN4 | c.2143_2144insGGAGT (p.Pro715ArgfsTer16) c.2110_2111insGGAGT (p.Pro704ArgfsTer16) c.2155_2156insGGAGT (p.Pro719ArgfsTer16) | dbSNP ExAC gnomAD v2 |
| 17 | g.745900G>A | CA397505532 | GEMIN4 | c.2143C>T (p.Pro715Ser) c.2110C>T (p.Pro704Ser) c.2155C>T (p.Pro719Ser) | |
| 17 | g.745900G>C | CA397505534 | GEMIN4 | c.2143C>G (p.Pro715Ala) c.2110C>G (p.Pro704Ala) c.2155C>G (p.Pro719Ala) | |
| 17 | g.745900G= | CA2242474469 | GEMIN4 | c.2143C= (p.Pro715=) c.2110C= (p.Pro704=) c.2155C= (p.Pro719=) | |
| 17 | g.745900G>T | CA397505536 | GEMIN4 | c.2143C>A (p.Pro715Thr) c.2110C>A (p.Pro704Thr) c.2155C>A (p.Pro719Thr) | |
| 17 | g.745900_745901insTCTCAAAAAATAAAAATAAAATA | CA8262475 | GEMIN4 | c.2142_2143insTATTTTATTTTTATTTTTTGAGA (p.Pro715TyrfsTer7) c.2109_2110insTATTTTATTTTTATTTTTTGAGA (p.Pro704TyrfsTer7) c.2154_2155insTATTTTATTTTTATTTTTTGAGA (p.Pro719TyrfsTer7) | dbSNP ExAC |
| 17 | g.745900_745901insTCTCAAAAAATAAAAATAAAATAAAT | CA624456765 | GEMIN4 | c.2142_2143insATTTATTTTATTTTTATTTTTTGAGA (p.Pro715IlefsTer8) c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA (p.Pro704IlefsTer8) c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA (p.Pro719IlefsTer8) | dbSNP gnomAD v2 |
| 17 | g.745901A= | CA2242474471 | GEMIN4 | c.2142T= (p.Leu714=) c.2109T= (p.Leu703=) c.2154T= (p.Leu718=) | |
| 17 | g.745901A>C | CA497383675 | GEMIN4 | c.2142T>G (p.Leu714=) c.2109T>G (p.Leu703=) c.2154T>G (p.Leu718=) | |
| 17 | g.745901A>G | CA286713666 | GEMIN4 | c.2142T>C (p.Leu714=) c.2109T>C (p.Leu703=) c.2154T>C (p.Leu718=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.745901A>T | CA497383676 | GEMIN4 | c.2142T>A (p.Leu714=) c.2109T>A (p.Leu703=) c.2154T>A (p.Leu718=) | |
| 17 | g.745901_745915delinsAAGCTGCCAGTATTT | CA2242474470 | GEMIN4 | c.2128_2142delinsAAATACTGGCAGCTT (p.Lys710=) c.2095_2109delinsAAATACTGGCAGCTT (p.Lys699=) c.2140_2154delinsAAATACTGGCAGCTT (p.Lys714=) | |
| 17 | g.745902A>C | CA397505540 | GEMIN4 | c.2141T>G (p.Leu714Arg) c.2108T>G (p.Leu703Arg) c.2153T>G (p.Leu718Arg) | |
| 17 | g.745902A>G | CA397505542 | GEMIN4 | c.2141T>C (p.Leu714Pro) c.2108T>C (p.Leu703Pro) c.2153T>C (p.Leu718Pro) | |
| 17 | g.745902A>T | CA397505544 | GEMIN4 | c.2141T>A (p.Leu714His) c.2108T>A (p.Leu703His) c.2153T>A (p.Leu718His) | |
| 17 | g.745902_745915del | CA2242474472 | GEMIN4 | c.2128_2141del (p.Lys710SerfsTer11) c.2095_2108del (p.Lys699SerfsTer11) c.2140_2153del (p.Lys714SerfsTer11) | dbSNP |
| 17 | g.745903G>A | CA8262477 | GEMIN4 | c.2140C>T (p.Leu714Phe) c.2107C>T (p.Leu703Phe) c.2152C>T (p.Leu718Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.745903G>C | CA397505550 | GEMIN4 | c.2140C>G (p.Leu714Val) c.2107C>G (p.Leu703Val) c.2152C>G (p.Leu718Val) | |
| 17 | g.745903G= | CA2242474473 | GEMIN4 | c.2140C= (p.Leu714=) c.2107C= (p.Leu703=) c.2152C= (p.Leu718=) | |
| 17 | g.745903G>T | CA8262476 | GEMIN4 | c.2140C>A (p.Leu714Ile) c.2107C>A (p.Leu703Ile) c.2152C>A (p.Leu718Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |