Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
17 | g.745904C>A | CA397505554 | GEMIN4 | c.2139G>T (p.Gln713His) c.2106G>T (p.Gln702His) c.2151G>T (p.Gln717His) | |
17 | g.745904C= | CA2242474474 | GEMIN4 | c.2139G= (p.Gln713=) c.2106G= (p.Gln702=) c.2151G= (p.Gln717=) | |
17 | g.745904C>G | CA397505556 | GEMIN4 | c.2139G>C (p.Gln713His) c.2106G>C (p.Gln702His) c.2151G>C (p.Gln717His) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745904C>T | CA497383678 | GEMIN4 | c.2139G>A (p.Gln713=) c.2106G>A (p.Gln702=) c.2151G>A (p.Gln717=) | |
17 | g.745905T>A | CA397505563 | GEMIN4 | c.2138A>T (p.Gln713Leu) c.2105A>T (p.Gln702Leu) c.2150A>T (p.Gln717Leu) | |
17 | g.745905T>C | CA397505559 | GEMIN4 | c.2138A>G (p.Gln713Arg) c.2105A>G (p.Gln702Arg) c.2150A>G (p.Gln717Arg) | |
17 | g.745905T>G | CA397505561 | GEMIN4 | c.2138A>C (p.Gln713Pro) c.2105A>C (p.Gln702Pro) c.2150A>C (p.Gln717Pro) | |
17 | g.745906G>A | CA397505565 | GEMIN4 | c.2137C>T (p.Gln713Ter) c.2104C>T (p.Gln702Ter) c.2149C>T (p.Gln717Ter) | gnomAD v4 COSMIC COSMIC |
17 | g.745906G>C | CA397505567 | GEMIN4 | c.2137C>G (p.Gln713Glu) c.2104C>G (p.Gln702Glu) c.2149C>G (p.Gln717Glu) | |
17 | g.745906G>T | CA397505569 | GEMIN4 | c.2137C>A (p.Gln713Lys) c.2104C>A (p.Gln702Lys) c.2149C>A (p.Gln717Lys) | |
17 | g.745907C>A | CA397505571 | GEMIN4 | c.2136G>T (p.Trp712Cys) c.2103G>T (p.Trp701Cys) c.2148G>T (p.Trp716Cys) | |
17 | g.745907C>G | CA397505573 | GEMIN4 | c.2136G>C (p.Trp712Cys) c.2103G>C (p.Trp701Cys) c.2148G>C (p.Trp716Cys) | |
17 | g.745907C>T | CA397505575 | GEMIN4 | c.2136G>A (p.Trp712Ter) c.2103G>A (p.Trp701Ter) c.2148G>A (p.Trp716Ter) | |
17 | g.745908C>A | CA397505577 | GEMIN4 | c.2135G>T (p.Trp712Leu) c.2102G>T (p.Trp701Leu) c.2147G>T (p.Trp716Leu) | |
17 | g.745908C>G | CA397505579 | GEMIN4 | c.2135G>C (p.Trp712Ser) c.2102G>C (p.Trp701Ser) c.2147G>C (p.Trp716Ser) | |
17 | g.745908C>T | CA397505581 | GEMIN4 | c.2135G>A (p.Trp712Ter) c.2102G>A (p.Trp701Ter) c.2147G>A (p.Trp716Ter) | |
17 | g.745909A>C | CA397505584 | GEMIN4 | c.2134T>G (p.Trp712Gly) c.2101T>G (p.Trp701Gly) c.2146T>G (p.Trp716Gly) | |
17 | g.745909A>G | CA397505586 | GEMIN4 | c.2134T>C (p.Trp712Arg) c.2101T>C (p.Trp701Arg) c.2146T>C (p.Trp716Arg) | |
17 | g.745909A>T | CA397505587 | GEMIN4 | c.2134T>A (p.Trp712Arg) c.2101T>A (p.Trp701Arg) c.2146T>A (p.Trp716Arg) | |
17 | g.745910G>A | CA8262478 | GEMIN4 | c.2133C>T (p.Tyr711=) c.2100C>T (p.Tyr700=) c.2145C>T (p.Tyr715=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745910G>C | CA397505592 | GEMIN4 | c.2133C>G (p.Tyr711Ter) c.2100C>G (p.Tyr700Ter) c.2145C>G (p.Tyr715Ter) | |
17 | g.745910G= | CA2242474475 | GEMIN4 | c.2133C= (p.Tyr711=) c.2100C= (p.Tyr700=) c.2145C= (p.Tyr715=) | |
17 | g.745910G>T | CA397505590 | GEMIN4 | c.2133C>A (p.Tyr711Ter) c.2100C>A (p.Tyr700Ter) c.2145C>A (p.Tyr715Ter) | |
17 | g.745911T>A | CA397505596 | GEMIN4 | c.2132A>T (p.Tyr711Phe) c.2099A>T (p.Tyr700Phe) c.2144A>T (p.Tyr715Phe) | |
17 | g.745911T>C | CA397505597 | GEMIN4 | c.2132A>G (p.Tyr711Cys) c.2099A>G (p.Tyr700Cys) c.2144A>G (p.Tyr715Cys) | |
17 | g.745911T>G | CA397505599 | GEMIN4 | c.2132A>C (p.Tyr711Ser) c.2099A>C (p.Tyr700Ser) c.2144A>C (p.Tyr715Ser) | |
17 | g.745912A= | CA2242474476 | GEMIN4 | c.2131T= (p.Tyr711=) c.2098T= (p.Tyr700=) c.2143T= (p.Tyr715=) | |
17 | g.745912A>C | CA397505601 | GEMIN4 | c.2131T>G (p.Tyr711Asp) c.2098T>G (p.Tyr700Asp) c.2143T>G (p.Tyr715Asp) | |
17 | g.745912A>G | CA286713667 | GEMIN4 | c.2131T>C (p.Tyr711His) c.2098T>C (p.Tyr700His) c.2143T>C (p.Tyr715His) | dbSNP |
17 | g.745912A>T | CA397505605 | GEMIN4 | c.2131T>A (p.Tyr711Asn) c.2098T>A (p.Tyr700Asn) c.2143T>A (p.Tyr715Asn) | |
17 | g.745913T>A | CA397505606 | GEMIN4 | c.2130A>T (p.Lys710Asn) c.2097A>T (p.Lys699Asn) c.2142A>T (p.Lys714Asn) | |
17 | g.745913T>C | CA497383686 | GEMIN4 | c.2130A>G (p.Lys710=) c.2097A>G (p.Lys699=) c.2142A>G (p.Lys714=) | |
17 | g.745913T>G | CA397505608 | GEMIN4 | c.2130A>C (p.Lys710Asn) c.2097A>C (p.Lys699Asn) c.2142A>C (p.Lys714Asn) | |
17 | g.745914T>A | CA397505611 | GEMIN4 | c.2129A>T (p.Lys710Ile) c.2096A>T (p.Lys699Ile) c.2141A>T (p.Lys714Ile) | |
17 | g.745914T>C | CA397505613 | GEMIN4 | c.2129A>G (p.Lys710Arg) c.2096A>G (p.Lys699Arg) c.2141A>G (p.Lys714Arg) | |
17 | g.745914T>G | CA397505614 | GEMIN4 | c.2129A>C (p.Lys710Thr) c.2096A>C (p.Lys699Thr) c.2141A>C (p.Lys714Thr) | |
17 | g.745915T>A | CA397505615 | GEMIN4 | c.2128A>T (p.Lys710Ter) c.2095A>T (p.Lys699Ter) c.2140A>T (p.Lys714Ter) | |
17 | g.745915T>C | CA397505617 | GEMIN4 | c.2128A>G (p.Lys710Glu) c.2095A>G (p.Lys699Glu) c.2140A>G (p.Lys714Glu) | |
17 | g.745915T>G | CA397505618 | GEMIN4 | c.2128A>C (p.Lys710Gln) c.2095A>C (p.Lys699Gln) c.2140A>C (p.Lys714Gln) | |
17 | g.745916G>A | CA497383688 | GEMIN4 | c.2127C>T (p.Ser709=) c.2094C>T (p.Ser698=) c.2139C>T (p.Ser713=) | gnomAD v4 |
17 | g.745916G>C | CA397505623 | GEMIN4 | c.2127C>G (p.Ser709Arg) c.2094C>G (p.Ser698Arg) c.2139C>G (p.Ser713Arg) | gnomAD v4 |
17 | g.745916G>T | CA397505621 | GEMIN4 | c.2127C>A (p.Ser709Arg) c.2094C>A (p.Ser698Arg) c.2139C>A (p.Ser713Arg) | |
17 | g.745917C>A | CA397505625 | GEMIN4 | c.2126G>T (p.Ser709Ile) c.2093G>T (p.Ser698Ile) c.2138G>T (p.Ser713Ile) | dbSNP gnomAD v2 |
17 | g.745917C= | CA2242474477 | GEMIN4 | c.2126G= (p.Ser709=) c.2093G= (p.Ser698=) c.2138G= (p.Ser713=) | |
17 | g.745917C>G | CA397505627 | GEMIN4 | c.2126G>C (p.Ser709Thr) c.2093G>C (p.Ser698Thr) c.2138G>C (p.Ser713Thr) | |
17 | g.745917C>T | CA397505629 | GEMIN4 | c.2126G>A (p.Ser709Asn) c.2093G>A (p.Ser698Asn) c.2138G>A (p.Ser713Asn) | |
17 | g.745918T>A | CA397505631 | GEMIN4 | c.2125A>T (p.Ser709Cys) c.2092A>T (p.Ser698Cys) c.2137A>T (p.Ser713Cys) | |
17 | g.745918T>C | CA397505633 | GEMIN4 | c.2125A>G (p.Ser709Gly) c.2092A>G (p.Ser698Gly) c.2137A>G (p.Ser713Gly) | gnomAD v4 |
17 | g.745918T>G | CA397505634 | GEMIN4 | c.2125A>C (p.Ser709Arg) c.2092A>C (p.Ser698Arg) c.2137A>C (p.Ser713Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745918T= | CA2242474478 | GEMIN4 | c.2125A= (p.Ser709=) c.2092A= (p.Ser698=) c.2137A= (p.Ser713=) | |
17 | g.745919G>A | CA497383689 | GEMIN4 | c.2124C>T (p.Phe708=) c.2091C>T (p.Phe697=) c.2136C>T (p.Phe712=) | |
17 | g.745919G>C | CA397505635 | GEMIN4 | c.2124C>G (p.Phe708Leu) c.2091C>G (p.Phe697Leu) c.2136C>G (p.Phe712Leu) | |
17 | g.745919G>T | CA397505637 | GEMIN4 | c.2124C>A (p.Phe708Leu) c.2091C>A (p.Phe697Leu) c.2136C>A (p.Phe712Leu) | |
17 | g.745920A>C | CA397505639 | GEMIN4 | c.2123T>G (p.Phe708Cys) c.2090T>G (p.Phe697Cys) c.2135T>G (p.Phe712Cys) | |
17 | g.745920A>G | CA397505640 | GEMIN4 | c.2123T>C (p.Phe708Ser) c.2090T>C (p.Phe697Ser) c.2135T>C (p.Phe712Ser) | |
17 | g.745920A>T | CA397505641 | GEMIN4 | c.2123T>A (p.Phe708Tyr) c.2090T>A (p.Phe697Tyr) c.2135T>A (p.Phe712Tyr) | |
17 | g.745921A>C | CA397505644 | GEMIN4 | c.2122T>G (p.Phe708Val) c.2089T>G (p.Phe697Val) c.2134T>G (p.Phe712Val) | |
17 | g.745921A>G | CA397505645 | GEMIN4 | c.2122T>C (p.Phe708Leu) c.2089T>C (p.Phe697Leu) c.2134T>C (p.Phe712Leu) | |
17 | g.745921A>T | CA397505647 | GEMIN4 | c.2122T>A (p.Phe708Ile) c.2089T>A (p.Phe697Ile) c.2134T>A (p.Phe712Ile) | |
17 | g.745922G>A | CA497383690 | GEMIN4 | c.2121C>T (p.Arg707=) c.2088C>T (p.Arg696=) c.2133C>T (p.Arg711=) | |
17 | g.745922G>C | CA497383691 | GEMIN4 | c.2121C>G (p.Arg707=) c.2088C>G (p.Arg696=) c.2133C>G (p.Arg711=) | |
17 | g.745922G>T | CA497383692 | GEMIN4 | c.2121C>A (p.Arg707=) c.2088C>A (p.Arg696=) c.2133C>A (p.Arg711=) | |
17 | g.745923C>A | CA397505650 | GEMIN4 | c.2120G>T (p.Arg707Leu) c.2087G>T (p.Arg696Leu) c.2132G>T (p.Arg711Leu) | |
17 | g.745923C= | CA2242474479 | GEMIN4 | c.2120G= (p.Arg707=) c.2087G= (p.Arg696=) c.2132G= (p.Arg711=) | |
17 | g.745923C>G | CA397505651 | GEMIN4 | c.2120G>C (p.Arg707Pro) c.2087G>C (p.Arg696Pro) c.2132G>C (p.Arg711Pro) | |
17 | g.745923C>T | CA8262479 | GEMIN4 | c.2120G>A (p.Arg707His) c.2087G>A (p.Arg696His) c.2132G>A (p.Arg711His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745924G>A | CA8262480 | GEMIN4 | c.2119C>T (p.Arg707Cys) c.2086C>T (p.Arg696Cys) c.2131C>T (p.Arg711Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745924G>C | CA397505652 | GEMIN4 | c.2119C>G (p.Arg707Gly) c.2086C>G (p.Arg696Gly) c.2131C>G (p.Arg711Gly) | |
17 | g.745924G= | CA2242474480 | GEMIN4 | c.2119C= (p.Arg707=) c.2086C= (p.Arg696=) c.2131C= (p.Arg711=) | |
17 | g.745924G>T | CA397505653 | GEMIN4 | c.2119C>A (p.Arg707Ser) c.2086C>A (p.Arg696Ser) c.2131C>A (p.Arg711Ser) | |
17 | g.745925G>A | CA497383693 | GEMIN4 | c.2118C>T (p.Asp706=) c.2085C>T (p.Asp695=) c.2130C>T (p.Asp710=) | |
17 | g.745925G>C | CA397505654 | GEMIN4 | c.2118C>G (p.Asp706Glu) c.2085C>G (p.Asp695Glu) c.2130C>G (p.Asp710Glu) | |
17 | g.745925G>T | CA397505655 | GEMIN4 | c.2118C>A (p.Asp706Glu) c.2085C>A (p.Asp695Glu) c.2130C>A (p.Asp710Glu) | |
17 | g.745926T>A | CA397505656 | GEMIN4 | c.2117A>T (p.Asp706Val) c.2084A>T (p.Asp695Val) c.2129A>T (p.Asp710Val) | |
17 | g.745926T>C | CA397505657 | GEMIN4 | c.2117A>G (p.Asp706Gly) c.2084A>G (p.Asp695Gly) c.2129A>G (p.Asp710Gly) | |
17 | g.745926T>G | CA397505658 | GEMIN4 | c.2117A>C (p.Asp706Ala) c.2084A>C (p.Asp695Ala) c.2129A>C (p.Asp710Ala) | |
17 | g.745927C>A | CA397505659 | GEMIN4 | c.2116G>T (p.Asp706Tyr) c.2083G>T (p.Asp695Tyr) c.2128G>T (p.Asp710Tyr) | |
17 | g.745927C>G | CA397505660 | GEMIN4 | c.2116G>C (p.Asp706His) c.2083G>C (p.Asp695His) c.2128G>C (p.Asp710His) | |
17 | g.745927C>T | CA397505661 | GEMIN4 | c.2116G>A (p.Asp706Asn) c.2083G>A (p.Asp695Asn) c.2128G>A (p.Asp710Asn) | |
17 | g.745928C>A | CA397505662 | GEMIN4 | c.2115G>T (p.Leu705Phe) c.2082G>T (p.Leu694Phe) c.2127G>T (p.Leu709Phe) | |
17 | g.745928C= | CA2242474481 | GEMIN4 | c.2115G= (p.Leu705=) c.2082G= (p.Leu694=) c.2127G= (p.Leu709=) | |
17 | g.745928C>G | CA397505663 | GEMIN4 | c.2115G>C (p.Leu705Phe) c.2082G>C (p.Leu694Phe) c.2127G>C (p.Leu709Phe) | |
17 | g.745928C>T | CA497383694 | GEMIN4 | c.2115G>A (p.Leu705=) c.2082G>A (p.Leu694=) c.2127G>A (p.Leu709=) | dbSNP gnomAD v4 |
17 | g.745929A>C | CA397505666 | GEMIN4 | c.2114T>G (p.Leu705Trp) c.2081T>G (p.Leu694Trp) c.2126T>G (p.Leu709Trp) | |
17 | g.745929A>G | CA397505665 | GEMIN4 | c.2114T>C (p.Leu705Ser) c.2081T>C (p.Leu694Ser) c.2126T>C (p.Leu709Ser) | |
17 | g.745929A>T | CA397505664 | GEMIN4 | c.2114T>A (p.Leu705Ter) c.2081T>A (p.Leu694Ter) c.2126T>A (p.Leu709Ter) | |
17 | g.745930A>C | CA397505667 | GEMIN4 | c.2113T>G (p.Leu705Val) c.2080T>G (p.Leu694Val) c.2125T>G (p.Leu709Val) | |
17 | g.745930A>G | CA497383695 | GEMIN4 | c.2113T>C (p.Leu705=) c.2080T>C (p.Leu694=) c.2125T>C (p.Leu709=) | |
17 | g.745930A>T | CA397505668 | GEMIN4 | c.2113T>A (p.Leu705Met) c.2080T>A (p.Leu694Met) c.2125T>A (p.Leu709Met) | |
17 | g.745931G>A | CA497383696 | GEMIN4 | c.2112C>T (p.Leu704=) c.2079C>T (p.Leu693=) c.2124C>T (p.Leu708=) | |
17 | g.745931G>C | CA497383697 | GEMIN4 | c.2112C>G (p.Leu704=) c.2079C>G (p.Leu693=) c.2124C>G (p.Leu708=) | gnomAD v4 |
17 | g.745931G>T | CA497383698 | GEMIN4 | c.2112C>A (p.Leu704=) c.2079C>A (p.Leu693=) c.2124C>A (p.Leu708=) | |
17 | g.745932A>C | CA397505669 | GEMIN4 | c.2111T>G (p.Leu704Arg) c.2078T>G (p.Leu693Arg) c.2123T>G (p.Leu708Arg) | |
17 | g.745932A>G | CA397505670 | GEMIN4 | c.2111T>C (p.Leu704Pro) c.2078T>C (p.Leu693Pro) c.2123T>C (p.Leu708Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745932A>T | CA397505671 | GEMIN4 | c.2111T>A (p.Leu704His) c.2078T>A (p.Leu693His) c.2123T>A (p.Leu708His) | |
17 | g.745933G>A | CA8262481 | GEMIN4 | c.2110C>T (p.Leu704Phe) c.2077C>T (p.Leu693Phe) c.2122C>T (p.Leu708Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745933G>C | CA397505672 | GEMIN4 | c.2110C>G (p.Leu704Val) c.2077C>G (p.Leu693Val) c.2122C>G (p.Leu708Val) | |
17 | g.745933G= | CA2242474482 | GEMIN4 | c.2110C= (p.Leu704=) c.2077C= (p.Leu693=) c.2122C= (p.Leu708=) | |
17 | g.745933G>T | CA397505673 | GEMIN4 | c.2110C>A (p.Leu704Ile) c.2077C>A (p.Leu693Ile) c.2122C>A (p.Leu708Ile) | |
17 | g.745934C>A | CA397505674 | GEMIN4 | c.2109G>T (p.Gln703His) c.2076G>T (p.Gln692His) c.2121G>T (p.Gln707His) | |
17 | g.745934C>G | CA397505675 | GEMIN4 | c.2109G>C (p.Gln703His) c.2076G>C (p.Gln692His) c.2121G>C (p.Gln707His) | gnomAD v4 |
17 | g.745934C>T | CA497383702 | GEMIN4 | c.2109G>A (p.Gln703=) c.2076G>A (p.Gln692=) c.2121G>A (p.Gln707=) | dbSNP |
17 | g.745935T>A | CA397505676 | GEMIN4 | c.2108A>T (p.Gln703Leu) c.2075A>T (p.Gln692Leu) c.2120A>T (p.Gln707Leu) | gnomAD v4 |
17 | g.745935T>C | CA8262482 | GEMIN4 | c.2108A>G (p.Gln703Arg) c.2075A>G (p.Gln692Arg) c.2120A>G (p.Gln707Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.745935T>G | CA397505677 | GEMIN4 | c.2108A>C (p.Gln703Pro) c.2075A>C (p.Gln692Pro) c.2120A>C (p.Gln707Pro) | |
17 | g.745935T= | CA2242474483 | GEMIN4 | c.2108A= (p.Gln703=) c.2075A= (p.Gln692=) c.2120A= (p.Gln707=) | |
17 | g.745936G>A | CA397505680 | GEMIN4 | c.2107C>T (p.Gln703Ter) c.2074C>T (p.Gln692Ter) c.2119C>T (p.Gln707Ter) | |
17 | g.745936G>C | CA397505679 | GEMIN4 | c.2107C>G (p.Gln703Glu) c.2074C>G (p.Gln692Glu) c.2119C>G (p.Gln707Glu) | |
17 | g.745936G>T | CA397505678 | GEMIN4 | c.2107C>A (p.Gln703Lys) c.2074C>A (p.Gln692Lys) c.2119C>A (p.Gln707Lys) | |
17 | g.745937G>A | CA8262483 | GEMIN4 | c.2106C>T (p.Cys702=) c.2073C>T (p.Cys691=) c.2118C>T (p.Cys706=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745937G>C | CA397505681 | GEMIN4 | c.2106C>G (p.Cys702Trp) c.2073C>G (p.Cys691Trp) c.2118C>G (p.Cys706Trp) | |
17 | g.745937G= | CA2242474484 | GEMIN4 | c.2106C= (p.Cys702=) c.2073C= (p.Cys691=) c.2118C= (p.Cys706=) | |
17 | g.745937G>T | CA397505682 | GEMIN4 | c.2106C>A (p.Cys702Ter) c.2073C>A (p.Cys691Ter) c.2118C>A (p.Cys706Ter) | dbSNP |
17 | g.745938C>A | CA397505683 | GEMIN4 | c.2105G>T (p.Cys702Phe) c.2072G>T (p.Cys691Phe) c.2117G>T (p.Cys706Phe) | |
17 | g.745938C>G | CA397505684 | GEMIN4 | c.2105G>C (p.Cys702Ser) c.2072G>C (p.Cys691Ser) c.2117G>C (p.Cys706Ser) | |
17 | g.745938C>T | CA397505685 | GEMIN4 | c.2105G>A (p.Cys702Tyr) c.2072G>A (p.Cys691Tyr) c.2117G>A (p.Cys706Tyr) | COSMIC COSMIC |
17 | g.745940_745941del | CA2838506406 | GEMIN4 | c.2104_2105del (p.Cys702ProfsTer23) c.2071_2072del (p.Cys691ProfsTer23) c.2116_2117del (p.Cys706ProfsTer23) | |
17 | g.745939A>C | CA397505686 | GEMIN4 | c.2104T>G (p.Cys702Gly) c.2071T>G (p.Cys691Gly) c.2116T>G (p.Cys706Gly) | |
17 | g.745939A>G | CA397505687 | GEMIN4 | c.2104T>C (p.Cys702Arg) c.2071T>C (p.Cys691Arg) c.2116T>C (p.Cys706Arg) | |
17 | g.745939A>T | CA397505688 | GEMIN4 | c.2104T>A (p.Cys702Ser) c.2071T>A (p.Cys691Ser) c.2116T>A (p.Cys706Ser) | |
17 | g.745940C>A | CA8262484 | GEMIN4 | c.2103G>T (p.Leu701Phe) c.2070G>T (p.Leu690Phe) c.2115G>T (p.Leu705Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745940C= | CA2242474485 | GEMIN4 | c.2103G= (p.Leu701=) c.2070G= (p.Leu690=) c.2115G= (p.Leu705=) | |
17 | g.745940C>G | CA397505689 | GEMIN4 | c.2103G>C (p.Leu701Phe) c.2070G>C (p.Leu690Phe) c.2115G>C (p.Leu705Phe) | dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.745940C>T | CA497383705 | GEMIN4 | c.2103G>A (p.Leu701=) c.2070G>A (p.Leu690=) c.2115G>A (p.Leu705=) | dbSNP gnomAD v4 |
17 | g.745941A= | CA2242474486 | GEMIN4 | c.2102T= (p.Leu701=) c.2069T= (p.Leu690=) c.2114T= (p.Leu705=) | |
17 | g.745941A>C | CA397505690 | GEMIN4 | c.2102T>G (p.Leu701Trp) c.2069T>G (p.Leu690Trp) c.2114T>G (p.Leu705Trp) | |
17 | g.745941A>G | CA397505691 | GEMIN4 | c.2102T>C (p.Leu701Ser) c.2069T>C (p.Leu690Ser) c.2114T>C (p.Leu705Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745941A>T | CA8262485 | GEMIN4 | c.2102T>A (p.Leu701Ter) c.2069T>A (p.Leu690Ter) c.2114T>A (p.Leu705Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745942A>C | CA397505693 | GEMIN4 | c.2101T>G (p.Leu701Val) c.2068T>G (p.Leu690Val) c.2113T>G (p.Leu705Val) | |
17 | g.745942A>G | CA497383707 | GEMIN4 | c.2101T>C (p.Leu701=) c.2068T>C (p.Leu690=) c.2113T>C (p.Leu705=) | |
17 | g.745942A>T | CA397505692 | GEMIN4 | c.2101T>A (p.Leu701Met) c.2068T>A (p.Leu690Met) c.2113T>A (p.Leu705Met) | |
17 | g.745943G>A | CA8262486 | GEMIN4 | c.2100C>T (p.Ser700=) c.2067C>T (p.Ser689=) c.2112C>T (p.Ser704=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745943G>C | CA397505694 | GEMIN4 | c.2100C>G (p.Ser700Arg) c.2067C>G (p.Ser689Arg) c.2112C>G (p.Ser704Arg) | gnomAD v4 |
17 | g.745943G= | CA2242474487 | GEMIN4 | c.2100C= (p.Ser700=) c.2067C= (p.Ser689=) c.2112C= (p.Ser704=) | |
17 | g.745943G>T | CA397505695 | GEMIN4 | c.2100C>A (p.Ser700Arg) c.2067C>A (p.Ser689Arg) c.2112C>A (p.Ser704Arg) | |
17 | g.745944C>A | CA397505696 | GEMIN4 | c.2099G>T (p.Ser700Ile) c.2066G>T (p.Ser689Ile) c.2111G>T (p.Ser704Ile) | |
17 | g.745944C= | CA2242474488 | GEMIN4 | c.2099G= (p.Ser700=) c.2066G= (p.Ser689=) c.2111G= (p.Ser704=) | |
17 | g.745944C>G | CA397505697 | GEMIN4 | c.2099G>C (p.Ser700Thr) c.2066G>C (p.Ser689Thr) c.2111G>C (p.Ser704Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745944C>T | CA397505698 | GEMIN4 | c.2099G>A (p.Ser700Asn) c.2066G>A (p.Ser689Asn) c.2111G>A (p.Ser704Asn) | |
17 | g.745945T>A | CA397505699 | GEMIN4 | c.2098A>T (p.Ser700Cys) c.2065A>T (p.Ser689Cys) c.2110A>T (p.Ser704Cys) | |
17 | g.745945T>C | CA397505700 | GEMIN4 | c.2098A>G (p.Ser700Gly) c.2065A>G (p.Ser689Gly) c.2110A>G (p.Ser704Gly) | |
17 | g.745945T>G | CA397505701 | GEMIN4 | c.2098A>C (p.Ser700Arg) c.2065A>C (p.Ser689Arg) c.2110A>C (p.Ser704Arg) | |
17 | g.745946G>A | CA497383710 | GEMIN4 | c.2097C>T (p.Phe699=) c.2064C>T (p.Phe688=) c.2109C>T (p.Phe703=) | gnomAD v4 |
17 | g.745946G>C | CA397505702 | GEMIN4 | c.2097C>G (p.Phe699Leu) c.2064C>G (p.Phe688Leu) c.2109C>G (p.Phe703Leu) | |
17 | g.745946G>T | CA397505703 | GEMIN4 | c.2097C>A (p.Phe699Leu) c.2064C>A (p.Phe688Leu) c.2109C>A (p.Phe703Leu) | |
17 | g.745949_745959dup | CA2733062619 | GEMIN4 | c.2087_2097dup (p.Ser700HisfsTer33) c.2054_2064dup (p.Ser689HisfsTer33) c.2099_2109dup (p.Ser704HisfsTer33) | dbSNP |
17 | g.745947A>C | CA397505704 | GEMIN4 | c.2096T>G (p.Phe699Cys) c.2063T>G (p.Phe688Cys) c.2108T>G (p.Phe703Cys) | |
17 | g.745947A>G | CA397505705 | GEMIN4 | c.2096T>C (p.Phe699Ser) c.2063T>C (p.Phe688Ser) c.2108T>C (p.Phe703Ser) | |
17 | g.745947A>T | CA397505706 | GEMIN4 | c.2096T>A (p.Phe699Tyr) c.2063T>A (p.Phe688Tyr) c.2108T>A (p.Phe703Tyr) | gnomAD v4 |
17 | g.745948A>C | CA397505709 | GEMIN4 | c.2095T>G (p.Phe699Val) c.2062T>G (p.Phe688Val) c.2107T>G (p.Phe703Val) | |
17 | g.745948A>G | CA397505708 | GEMIN4 | c.2095T>C (p.Phe699Leu) c.2062T>C (p.Phe688Leu) c.2107T>C (p.Phe703Leu) | |
17 | g.745948A>T | CA397505707 | GEMIN4 | c.2095T>A (p.Phe699Ile) c.2062T>A (p.Phe688Ile) c.2107T>A (p.Phe703Ile) | |
17 | g.745948_745951delinsAGAG | CA2242474489 | GEMIN4 | c.2092_2095delinsCTCT (p.Leu698=) c.2059_2062delinsCTCT (p.Leu687=) c.2104_2107delinsCTCT (p.Leu702=) | |
17 | g.745949G>A | CA497383838 | GEMIN4 | c.2094C>T (p.Leu698=) c.2061C>T (p.Leu687=) c.2106C>T (p.Leu702=) | |
17 | g.745949G>C | CA497383841 | GEMIN4 | c.2094C>G (p.Leu698=) c.2061C>G (p.Leu687=) c.2106C>G (p.Leu702=) | |
17 | g.745949G>T | CA497383843 | GEMIN4 | c.2094C>A (p.Leu698=) c.2061C>A (p.Leu687=) c.2106C>A (p.Leu702=) | |
17 | g.745952_745954del | CA2242474490 | GEMIN4 | c.2092_2094del (p.Leu698del) c.2059_2061del (p.Leu687del) c.2104_2106del (p.Leu702del) | dbSNP gnomAD v4 |
17 | g.745950A>C | CA397505710 | GEMIN4 | c.2093T>G (p.Leu698Arg) c.2060T>G (p.Leu687Arg) c.2105T>G (p.Leu702Arg) | |
17 | g.745950A>G | CA397505711 | GEMIN4 | c.2093T>C (p.Leu698Pro) c.2060T>C (p.Leu687Pro) c.2105T>C (p.Leu702Pro) | |
17 | g.745950A>T | CA397505712 | GEMIN4 | c.2093T>A (p.Leu698His) c.2060T>A (p.Leu687His) c.2105T>A (p.Leu702His) | |
17 | g.745951G>A | CA8262487 | GEMIN4 | c.2092C>T (p.Leu698Phe) c.2059C>T (p.Leu687Phe) c.2104C>T (p.Leu702Phe) | dbSNP ExAC gnomAD v4 |
17 | g.745951G>C | CA397505713 | GEMIN4 | c.2092C>G (p.Leu698Val) c.2059C>G (p.Leu687Val) c.2104C>G (p.Leu702Val) | |
17 | g.745951G= | CA2242474491 | GEMIN4 | c.2092C= (p.Leu698=) c.2059C= (p.Leu687=) c.2104C= (p.Leu702=) | |
17 | g.745951G>T | CA397505714 | GEMIN4 | c.2092C>A (p.Leu698Ile) c.2059C>A (p.Leu687Ile) c.2104C>A (p.Leu702Ile) | COSMIC COSMIC |
17 | g.745952G>A | CA497383846 | GEMIN4 | c.2091C>T (p.Leu697=) c.2058C>T (p.Leu686=) c.2103C>T (p.Leu701=) | gnomAD v4 |
17 | g.745952G>C | CA497383847 | GEMIN4 | c.2091C>G (p.Leu697=) c.2058C>G (p.Leu686=) c.2103C>G (p.Leu701=) | |
17 | g.745952G= | CA2242474492 | GEMIN4 | c.2091C= (p.Leu697=) c.2058C= (p.Leu686=) c.2103C= (p.Leu701=) | |
17 | g.745952G>T | CA8262488 | GEMIN4 | c.2091C>A (p.Leu697=) c.2058C>A (p.Leu686=) c.2103C>A (p.Leu701=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745953A= | CA2242474493 | GEMIN4 | c.2090T= (p.Leu697=) c.2057T= (p.Leu686=) c.2102T= (p.Leu701=) | |
17 | g.745953A>C | CA397505717 | GEMIN4 | c.2090T>G (p.Leu697Arg) c.2057T>G (p.Leu686Arg) c.2102T>G (p.Leu701Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745953A>G | CA397505715 | GEMIN4 | c.2090T>C (p.Leu697Pro) c.2057T>C (p.Leu686Pro) c.2102T>C (p.Leu701Pro) | |
17 | g.745953A>T | CA397505716 | GEMIN4 | c.2090T>A (p.Leu697His) c.2057T>A (p.Leu686His) c.2102T>A (p.Leu701His) | |
17 | g.745954G>A | CA397505718 | GEMIN4 | c.2089C>T (p.Leu697Phe) c.2056C>T (p.Leu686Phe) c.2101C>T (p.Leu701Phe) | gnomAD v4 |
17 | g.745954G>C | CA397505719 | GEMIN4 | c.2089C>G (p.Leu697Val) c.2056C>G (p.Leu686Val) c.2101C>G (p.Leu701Val) | |
17 | g.745954G>T | CA397505720 | GEMIN4 | c.2089C>A (p.Leu697Ile) c.2056C>A (p.Leu686Ile) c.2101C>A (p.Leu701Ile) | |
17 | g.745955T>A | CA497383853 | GEMIN4 | c.2088A>T (p.Pro696=) c.2055A>T (p.Pro685=) c.2100A>T (p.Pro700=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745955T>C | CA497383854 | GEMIN4 | c.2088A>G (p.Pro696=) c.2055A>G (p.Pro685=) c.2100A>G (p.Pro700=) | |
17 | g.745955T>G | CA497383856 | GEMIN4 | c.2088A>C (p.Pro696=) c.2055A>C (p.Pro685=) c.2100A>C (p.Pro700=) | |
17 | g.745955T= | CA2242474494 | GEMIN4 | c.2088A= (p.Pro696=) c.2055A= (p.Pro685=) c.2100A= (p.Pro700=) | |
17 | g.745956G>A | CA397505721 | GEMIN4 | c.2087C>T (p.Pro696Leu) c.2054C>T (p.Pro685Leu) c.2099C>T (p.Pro700Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745956G>C | CA397505722 | GEMIN4 | c.2087C>G (p.Pro696Arg) c.2054C>G (p.Pro685Arg) c.2099C>G (p.Pro700Arg) | |
17 | g.745956G= | CA2242474495 | GEMIN4 | c.2087C= (p.Pro696=) c.2054C= (p.Pro685=) c.2099C= (p.Pro700=) | |
17 | g.745956G>T | CA397505723 | GEMIN4 | c.2087C>A (p.Pro696Gln) c.2054C>A (p.Pro685Gln) c.2099C>A (p.Pro700Gln) | |
17 | g.745957G>A | CA397505724 | GEMIN4 | c.2086C>T (p.Pro696Ser) c.2053C>T (p.Pro685Ser) c.2098C>T (p.Pro700Ser) | |
17 | g.745957G>C | CA397505726 | GEMIN4 | c.2086C>G (p.Pro696Ala) c.2053C>G (p.Pro685Ala) c.2098C>G (p.Pro700Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745957G= | CA2242474496 | GEMIN4 | c.2086C= (p.Pro696=) c.2053C= (p.Pro685=) c.2098C= (p.Pro700=) | |
17 | g.745957G>T | CA397505725 | GEMIN4 | c.2086C>A (p.Pro696Thr) c.2053C>A (p.Pro685Thr) c.2098C>A (p.Pro700Thr) | |
17 | g.745958A>C | CA397505727 | GEMIN4 | c.2085T>G (p.Phe695Leu) c.2052T>G (p.Phe684Leu) c.2097T>G (p.Phe699Leu) | |
17 | g.745958A>G | CA497383862 | GEMIN4 | c.2085T>C (p.Phe695=) c.2052T>C (p.Phe684=) c.2097T>C (p.Phe699=) | |
17 | g.745958A>T | CA397505728 | GEMIN4 | c.2085T>A (p.Phe695Leu) c.2052T>A (p.Phe684Leu) c.2097T>A (p.Phe699Leu) | |
17 | g.745959A>C | CA397505729 | GEMIN4 | c.2084T>G (p.Phe695Cys) c.2051T>G (p.Phe684Cys) c.2096T>G (p.Phe699Cys) | |
17 | g.745959A>G | CA397505730 | GEMIN4 | c.2084T>C (p.Phe695Ser) c.2051T>C (p.Phe684Ser) c.2096T>C (p.Phe699Ser) | |
17 | g.745959A>T | CA397505731 | GEMIN4 | c.2084T>A (p.Phe695Tyr) c.2051T>A (p.Phe684Tyr) c.2096T>A (p.Phe699Tyr) | |
17 | g.745960A= | CA2242474497 | GEMIN4 | c.2083T= (p.Phe695=) c.2050T= (p.Phe684=) c.2095T= (p.Phe699=) | |
17 | g.745960A>C | CA397505732 | GEMIN4 | c.2083T>G (p.Phe695Val) c.2050T>G (p.Phe684Val) c.2095T>G (p.Phe699Val) | gnomAD v4 |
17 | g.745960A>G | CA8262489 | GEMIN4 | c.2083T>C (p.Phe695Leu) c.2050T>C (p.Phe684Leu) c.2095T>C (p.Phe699Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745960A>T | CA397505733 | GEMIN4 | c.2083T>A (p.Phe695Ile) c.2050T>A (p.Phe684Ile) c.2095T>A (p.Phe699Ile) | |
17 | g.745961C>A | CA497383870 | GEMIN4 | c.2082G>T (p.Pro694=) c.2049G>T (p.Pro683=) c.2094G>T (p.Pro698=) | |
17 | g.745961C= | CA2242474498 | GEMIN4 | c.2082G= (p.Pro694=) c.2049G= (p.Pro683=) c.2094G= (p.Pro698=) | |
17 | g.745961C>G | CA497383872 | GEMIN4 | c.2082G>C (p.Pro694=) c.2049G>C (p.Pro683=) c.2094G>C (p.Pro698=) | |
17 | g.745961C>T | CA8262490 | GEMIN4 | c.2082G>A (p.Pro694=) c.2049G>A (p.Pro683=) c.2094G>A (p.Pro698=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745962G>A | CA8262491 | GEMIN4 | c.2081C>T (p.Pro694Leu) c.2048C>T (p.Pro683Leu) c.2093C>T (p.Pro698Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745962G>C | CA397505734 | GEMIN4 | c.2081C>G (p.Pro694Arg) c.2048C>G (p.Pro683Arg) c.2093C>G (p.Pro698Arg) | |
17 | g.745962G= | CA2242474499 | GEMIN4 | c.2081C= (p.Pro694=) c.2048C= (p.Pro683=) c.2093C= (p.Pro698=) | |
17 | g.745962G>T | CA397505735 | GEMIN4 | c.2081C>A (p.Pro694Gln) c.2048C>A (p.Pro683Gln) c.2093C>A (p.Pro698Gln) | |
17 | g.745965del | CA2635153303 | GEMIN4 | c.2081del (p.Pro694ArgfsTer?) c.2048del (p.Pro683ArgfsTer?) c.2093del (p.Pro698ArgfsTer?) | gnomAD v4 |
17 | g.745963G>A | CA397505736 | GEMIN4 | c.2080C>T (p.Pro694Ser) c.2047C>T (p.Pro683Ser) c.2092C>T (p.Pro698Ser) | dbSNP |
17 | g.745963G>C | CA397505738 | GEMIN4 | c.2080C>G (p.Pro694Ala) c.2047C>G (p.Pro683Ala) c.2092C>G (p.Pro698Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745963G= | CA2242474500 | GEMIN4 | c.2080C= (p.Pro694=) c.2047C= (p.Pro683=) c.2092C= (p.Pro698=) | |
17 | g.745963G>T | CA397505737 | GEMIN4 | c.2080C>A (p.Pro694Thr) c.2047C>A (p.Pro683Thr) c.2092C>A (p.Pro698Thr) | |
17 | g.745964G>A | CA8262492 | GEMIN4 | c.2079C>T (p.Ser693=) c.2046C>T (p.Ser682=) c.2091C>T (p.Ser697=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745964G>C | CA497383882 | GEMIN4 | c.2079C>G (p.Ser693=) c.2046C>G (p.Ser682=) c.2091C>G (p.Ser697=) | |
17 | g.745964G= | CA2242474501 | GEMIN4 | c.2079C= (p.Ser693=) c.2046C= (p.Ser682=) c.2091C= (p.Ser697=) | |
17 | g.745964G>T | CA497383881 | GEMIN4 | c.2079C>A (p.Ser693=) c.2046C>A (p.Ser682=) c.2091C>A (p.Ser697=) | |
17 | g.745965G>A | CA397505739 | GEMIN4 | c.2078C>T (p.Ser693Phe) c.2045C>T (p.Ser682Phe) c.2090C>T (p.Ser697Phe) | gnomAD v4 |
17 | g.745965G>C | CA397505740 | GEMIN4 | c.2078C>G (p.Ser693Cys) c.2045C>G (p.Ser682Cys) c.2090C>G (p.Ser697Cys) | |
17 | g.745965G>T | CA397505741 | GEMIN4 | c.2078C>A (p.Ser693Tyr) c.2045C>A (p.Ser682Tyr) c.2090C>A (p.Ser697Tyr) | gnomAD v4 |
17 | g.745966A= | CA2242474502 | GEMIN4 | c.2077T= (p.Ser693=) c.2044T= (p.Ser682=) c.2089T= (p.Ser697=) | |
17 | g.745966A>C | CA397505742 | GEMIN4 | c.2077T>G (p.Ser693Ala) c.2044T>G (p.Ser682Ala) c.2089T>G (p.Ser697Ala) | |
17 | g.745966A>G | CA397505743 | GEMIN4 | c.2077T>C (p.Ser693Pro) c.2044T>C (p.Ser682Pro) c.2089T>C (p.Ser697Pro) | |
17 | g.745966A>T | CA8262493 | GEMIN4 | c.2077T>A (p.Ser693Thr) c.2044T>A (p.Ser682Thr) c.2089T>A (p.Ser697Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745967G>A | CA497383888 | GEMIN4 | c.2076C>T (p.Cys692=) c.2043C>T (p.Cys681=) c.2088C>T (p.Cys696=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745967G>C | CA397505744 | GEMIN4 | c.2076C>G (p.Cys692Trp) c.2043C>G (p.Cys681Trp) c.2088C>G (p.Cys696Trp) | |
17 | g.745967G= | CA2242474503 | GEMIN4 | c.2076C= (p.Cys692=) c.2043C= (p.Cys681=) c.2088C= (p.Cys696=) | |
17 | g.745967G>T | CA397505745 | GEMIN4 | c.2076C>A (p.Cys692Ter) c.2043C>A (p.Cys681Ter) c.2088C>A (p.Cys696Ter) | gnomAD v4 |
17 | g.745968C>A | CA397505746 | GEMIN4 | c.2075G>T (p.Cys692Phe) c.2042G>T (p.Cys681Phe) c.2087G>T (p.Cys696Phe) | |
17 | g.745968C>G | CA397505747 | GEMIN4 | c.2075G>C (p.Cys692Ser) c.2042G>C (p.Cys681Ser) c.2087G>C (p.Cys696Ser) | |
17 | g.745968C>T | CA397505748 | GEMIN4 | c.2075G>A (p.Cys692Tyr) c.2042G>A (p.Cys681Tyr) c.2087G>A (p.Cys696Tyr) | |
17 | g.745969A>C | CA397505751 | GEMIN4 | c.2074T>G (p.Cys692Gly) c.2041T>G (p.Cys681Gly) c.2086T>G (p.Cys696Gly) | |
17 | g.745969A>G | CA397505750 | GEMIN4 | c.2074T>C (p.Cys692Arg) c.2041T>C (p.Cys681Arg) c.2086T>C (p.Cys696Arg) | COSMIC COSMIC |
17 | g.745969A>T | CA397505749 | GEMIN4 | c.2074T>A (p.Cys692Ser) c.2041T>A (p.Cys681Ser) c.2086T>A (p.Cys696Ser) | |
17 | g.745970G>A | CA497383894 | GEMIN4 | c.2073C>T (p.Thr691=) c.2040C>T (p.Thr680=) c.2085C>T (p.Thr695=) | |
17 | g.745970G>C | CA497383893 | GEMIN4 | c.2073C>G (p.Thr691=) c.2040C>G (p.Thr680=) c.2085C>G (p.Thr695=) | gnomAD v4 |
17 | g.745970G>T | CA497383892 | GEMIN4 | c.2073C>A (p.Thr691=) c.2040C>A (p.Thr680=) c.2085C>A (p.Thr695=) | |
17 | g.745971G>A | CA397505752 | GEMIN4 | c.2072C>T (p.Thr691Ile) c.2039C>T (p.Thr680Ile) c.2084C>T (p.Thr695Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745971G>C | CA397505753 | GEMIN4 | c.2072C>G (p.Thr691Ser) c.2039C>G (p.Thr680Ser) c.2084C>G (p.Thr695Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745971G= | CA2242474504 | GEMIN4 | c.2072C= (p.Thr691=) c.2039C= (p.Thr680=) c.2084C= (p.Thr695=) | |
17 | g.745971G>T | CA397505754 | GEMIN4 | c.2072C>A (p.Thr691Asn) c.2039C>A (p.Thr680Asn) c.2084C>A (p.Thr695Asn) | |
17 | g.745972T>A | CA397505755 | GEMIN4 | c.2071A>T (p.Thr691Ser) c.2038A>T (p.Thr680Ser) c.2083A>T (p.Thr695Ser) | |
17 | g.745972T>C | CA397505756 | GEMIN4 | c.2071A>G (p.Thr691Ala) c.2038A>G (p.Thr680Ala) c.2083A>G (p.Thr695Ala) | |
17 | g.745972T>G | CA397505757 | GEMIN4 | c.2071A>C (p.Thr691Pro) c.2038A>C (p.Thr680Pro) c.2083A>C (p.Thr695Pro) | dbSNP |
17 | g.745973C>A | CA397505758 | GEMIN4 | c.2070G>T (p.Gln690His) c.2037G>T (p.Gln679His) c.2082G>T (p.Gln694His) | |
17 | g.745973C= | CA2242474505 | GEMIN4 | c.2070G= (p.Gln690=) c.2037G= (p.Gln679=) c.2082G= (p.Gln694=) | |
17 | g.745973C>G | CA397505759 | GEMIN4 | c.2070G>C (p.Gln690His) c.2037G>C (p.Gln679His) c.2082G>C (p.Gln694His) | |
17 | g.745973C>T | CA8262494 | GEMIN4 | c.2070G>A (p.Gln690=) c.2037G>A (p.Gln679=) c.2082G>A (p.Gln694=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745974T>A | CA397505760 | GEMIN4 | c.2069A>T (p.Gln690Leu) c.2036A>T (p.Gln679Leu) c.2081A>T (p.Gln694Leu) | |
17 | g.745974T>C | CA397505761 | GEMIN4 | c.2069A>G (p.Gln690Arg) c.2036A>G (p.Gln679Arg) c.2081A>G (p.Gln694Arg) | |
17 | g.745974T>G | CA397505762 | GEMIN4 | c.2069A>C (p.Gln690Pro) c.2036A>C (p.Gln679Pro) c.2081A>C (p.Gln694Pro) | |
17 | g.745975G>A | CA8262495 | GEMIN4 | c.2068C>T (p.Gln690Ter) c.2035C>T (p.Gln679Ter) c.2080C>T (p.Gln694Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745975G>C | CA397505764 | GEMIN4 | c.2068C>G (p.Gln690Glu) c.2035C>G (p.Gln679Glu) c.2080C>G (p.Gln694Glu) | |
17 | g.745975G= | CA2242474506 | GEMIN4 | c.2068C= (p.Gln690=) c.2035C= (p.Gln679=) c.2080C= (p.Gln694=) | |
17 | g.745975G>T | CA397505763 | GEMIN4 | c.2068C>A (p.Gln690Lys) c.2035C>A (p.Gln679Lys) c.2080C>A (p.Gln694Lys) | |
17 | g.745976G>A | CA497383906 | GEMIN4 | c.2067C>T (p.Leu689=) c.2034C>T (p.Leu678=) c.2079C>T (p.Leu693=) | |
17 | g.745976G>C | CA497383908 | GEMIN4 | c.2067C>G (p.Leu689=) c.2034C>G (p.Leu678=) c.2079C>G (p.Leu693=) | |
17 | g.745976G>T | CA497383905 | GEMIN4 | c.2067C>A (p.Leu689=) c.2034C>A (p.Leu678=) c.2079C>A (p.Leu693=) | |
17 | g.745977A= | CA2242474507 | GEMIN4 | c.2066T= (p.Leu689=) c.2033T= (p.Leu678=) c.2078T= (p.Leu693=) | |
17 | g.745977A>C | CA397505765 | GEMIN4 | c.2066T>G (p.Leu689Arg) c.2033T>G (p.Leu678Arg) c.2078T>G (p.Leu693Arg) | |
17 | g.745977A>G | CA397505767 | GEMIN4 | c.2066T>C (p.Leu689Pro) c.2033T>C (p.Leu678Pro) c.2078T>C (p.Leu693Pro) | gnomAD v4 |
17 | g.745977A>T | CA397505766 | GEMIN4 | c.2066T>A (p.Leu689His) c.2033T>A (p.Leu678His) c.2078T>A (p.Leu693His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.745978G>A | CA8262496 | GEMIN4 | c.2065C>T (p.Leu689Phe) c.2032C>T (p.Leu678Phe) c.2077C>T (p.Leu693Phe) | dbSNP ExAC gnomAD v2 |
17 | g.745978G>C | CA397505769 | GEMIN4 | c.2065C>G (p.Leu689Val) c.2032C>G (p.Leu678Val) c.2077C>G (p.Leu693Val) | |
17 | g.745978G= | CA2242474508 | GEMIN4 | c.2065C= (p.Leu689=) c.2032C= (p.Leu678=) c.2077C= (p.Leu693=) | |
17 | g.745978G>T | CA397505768 | GEMIN4 | c.2065C>A (p.Leu689Ile) c.2032C>A (p.Leu678Ile) c.2077C>A (p.Leu693Ile) | |
17 | g.745979C>A | CA397505770 | GEMIN4 | c.2064G>T (p.Trp688Cys) c.2031G>T (p.Trp677Cys) c.2076G>T (p.Trp692Cys) | |
17 | g.745979C>G | CA397505771 | GEMIN4 | c.2064G>C (p.Trp688Cys) c.2031G>C (p.Trp677Cys) c.2076G>C (p.Trp692Cys) | |
17 | g.745979C>T | CA397505772 | GEMIN4 | c.2064G>A (p.Trp688Ter) c.2031G>A (p.Trp677Ter) c.2076G>A (p.Trp692Ter) | |
17 | g.745980C>A | CA397505773 | GEMIN4 | c.2063G>T (p.Trp688Leu) c.2030G>T (p.Trp677Leu) c.2075G>T (p.Trp692Leu) | |
17 | g.745980C= | CA2242474509 | GEMIN4 | c.2063G= (p.Trp688=) c.2030G= (p.Trp677=) c.2075G= (p.Trp692=) | |
17 | g.745980C>G | CA397505774 | GEMIN4 | c.2063G>C (p.Trp688Ser) c.2030G>C (p.Trp677Ser) c.2075G>C (p.Trp692Ser) | |
17 | g.745980C>T | CA397505775 | GEMIN4 | c.2063G>A (p.Trp688Ter) c.2030G>A (p.Trp677Ter) c.2075G>A (p.Trp692Ter) | dbSNP gnomAD v2 |
17 | g.745981A= | CA2242474510 | GEMIN4 | c.2062T= (p.Trp688=) c.2029T= (p.Trp677=) c.2074T= (p.Trp692=) | |
17 | g.745981A>C | CA397505776 | GEMIN4 | c.2062T>G (p.Trp688Gly) c.2029T>G (p.Trp677Gly) c.2074T>G (p.Trp692Gly) | dbSNP |
17 | g.745981A>G | CA397505777 | GEMIN4 | c.2062T>C (p.Trp688Arg) c.2029T>C (p.Trp677Arg) c.2074T>C (p.Trp692Arg) | dbSNP gnomAD v2 |
17 | g.745981A>T | CA397505778 | GEMIN4 | c.2062T>A (p.Trp688Arg) c.2029T>A (p.Trp677Arg) c.2074T>A (p.Trp692Arg) | |
17 | g.745982G>A | CA497383915 | GEMIN4 | c.2061C>T (p.Tyr687=) c.2028C>T (p.Tyr676=) c.2073C>T (p.Tyr691=) | gnomAD v4 COSMIC COSMIC |
17 | g.745982G>C | CA397505779 | GEMIN4 | c.2061C>G (p.Tyr687Ter) c.2028C>G (p.Tyr676Ter) c.2073C>G (p.Tyr691Ter) | |
17 | g.745982G>T | CA397505780 | GEMIN4 | c.2061C>A (p.Tyr687Ter) c.2028C>A (p.Tyr676Ter) c.2073C>A (p.Tyr691Ter) | |
17 | g.745983T>A | CA397505783 | GEMIN4 | c.2060A>T (p.Tyr687Phe) c.2027A>T (p.Tyr676Phe) c.2072A>T (p.Tyr691Phe) | |
17 | g.745983T>C | CA397505781 | GEMIN4 | c.2060A>G (p.Tyr687Cys) c.2027A>G (p.Tyr676Cys) c.2072A>G (p.Tyr691Cys) | |
17 | g.745983T>G | CA397505782 | GEMIN4 | c.2060A>C (p.Tyr687Ser) c.2027A>C (p.Tyr676Ser) c.2072A>C (p.Tyr691Ser) | |
17 | g.745984A>C | CA397505784 | GEMIN4 | c.2059T>G (p.Tyr687Asp) c.2026T>G (p.Tyr676Asp) c.2071T>G (p.Tyr691Asp) | |
17 | g.745984A>G | CA397505785 | GEMIN4 | c.2059T>C (p.Tyr687His) c.2026T>C (p.Tyr676His) c.2071T>C (p.Tyr691His) | |
17 | g.745984A>T | CA397505786 | GEMIN4 | c.2059T>A (p.Tyr687Asn) c.2026T>A (p.Tyr676Asn) c.2071T>A (p.Tyr691Asn) | |
17 | g.745985T>A | CA397505787 | GEMIN4 | c.2058A>T (p.Glu686Asp) c.2025A>T (p.Glu675Asp) c.2070A>T (p.Glu690Asp) | |
17 | g.745985T>C | CA497383918 | GEMIN4 | c.2058A>G (p.Glu686=) c.2025A>G (p.Glu675=) c.2070A>G (p.Glu690=) | dbSNP |
17 | g.745985T>G | CA286713668 | GEMIN4 | c.2058A>C (p.Glu686Asp) c.2025A>C (p.Glu675Asp) c.2070A>C (p.Glu690Asp) | dbSNP |
17 | g.745985T= | CA2242474511 | GEMIN4 | c.2058A= (p.Glu686=) c.2025A= (p.Glu675=) c.2070A= (p.Glu690=) | |
17 | g.745986T>A | CA397505788 | GEMIN4 | c.2057A>T (p.Glu686Val) c.2024A>T (p.Glu675Val) c.2069A>T (p.Glu690Val) | |
17 | g.745986T>C | CA397505789 | GEMIN4 | c.2057A>G (p.Glu686Gly) c.2024A>G (p.Glu675Gly) c.2069A>G (p.Glu690Gly) | |
17 | g.745986T>G | CA397505790 | GEMIN4 | c.2057A>C (p.Glu686Ala) c.2024A>C (p.Glu675Ala) c.2069A>C (p.Glu690Ala) | |
17 | g.745987C>A | CA397505791 | GEMIN4 | c.2056G>T (p.Glu686Ter) c.2023G>T (p.Glu675Ter) c.2068G>T (p.Glu690Ter) | |
17 | g.745987C= | CA2242474512 | GEMIN4 | c.2056G= (p.Glu686=) c.2023G= (p.Glu675=) c.2068G= (p.Glu690=) | |
17 | g.745987C>G | CA397505792 | GEMIN4 | c.2056G>C (p.Glu686Gln) c.2023G>C (p.Glu675Gln) c.2068G>C (p.Glu690Gln) | |
17 | g.745987C>T | CA397505793 | GEMIN4 | c.2056G>A (p.Glu686Lys) c.2023G>A (p.Glu675Lys) c.2068G>A (p.Glu690Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745988C>A | CA397505795 | GEMIN4 | c.2055G>T (p.Glu685Asp) c.2022G>T (p.Glu674Asp) c.2067G>T (p.Glu689Asp) | |
17 | g.745988C= | CA2242474513 | GEMIN4 | c.2055G= (p.Glu685=) c.2022G= (p.Glu674=) c.2067G= (p.Glu689=) | |
17 | g.745988C>G | CA397505794 | GEMIN4 | c.2055G>C (p.Glu685Asp) c.2022G>C (p.Glu674Asp) c.2067G>C (p.Glu689Asp) | |
17 | g.745988C>T | CA497383921 | GEMIN4 | c.2055G>A (p.Glu685=) c.2022G>A (p.Glu674=) c.2067G>A (p.Glu689=) | dbSNP |
17 | g.745989T>A | CA397505796 | GEMIN4 | c.2054A>T (p.Glu685Val) c.2021A>T (p.Glu674Val) c.2066A>T (p.Glu689Val) | dbSNP |
17 | g.745989T>C | CA397505797 | GEMIN4 | c.2054A>G (p.Glu685Gly) c.2021A>G (p.Glu674Gly) c.2066A>G (p.Glu689Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745989T>G | CA397505798 | GEMIN4 | c.2054A>C (p.Glu685Ala) c.2021A>C (p.Glu674Ala) c.2066A>C (p.Glu689Ala) | |
17 | g.745989T= | CA2242474514 | GEMIN4 | c.2054A= (p.Glu685=) c.2021A= (p.Glu674=) c.2066A= (p.Glu689=) | |
17 | g.745990C>A | CA397505799 | GEMIN4 | c.2053G>T (p.Glu685Ter) c.2020G>T (p.Glu674Ter) c.2065G>T (p.Glu689Ter) | |
17 | g.745990C= | CA2242474515 | GEMIN4 | c.2053G= (p.Glu685=) c.2020G= (p.Glu674=) c.2065G= (p.Glu689=) | |
17 | g.745990C>G | CA397505800 | GEMIN4 | c.2053G>C (p.Glu685Gln) c.2020G>C (p.Glu674Gln) c.2065G>C (p.Glu689Gln) | |
17 | g.745990C>T | CA397505801 | GEMIN4 | c.2053G>A (p.Glu685Lys) c.2020G>A (p.Glu674Lys) c.2065G>A (p.Glu689Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745991T>A | CA497383924 | GEMIN4 | c.2052A>T (p.Arg684=) c.2019A>T (p.Arg673=) c.2064A>T (p.Arg688=) | |
17 | g.745991T>C | CA497383925 | GEMIN4 | c.2052A>G (p.Arg684=) c.2019A>G (p.Arg673=) c.2064A>G (p.Arg688=) | |
17 | g.745991T>G | CA497383926 | GEMIN4 | c.2052A>C (p.Arg684=) c.2019A>C (p.Arg673=) c.2064A>C (p.Arg688=) | |
17 | g.745992C>A | CA397505802 | GEMIN4 | c.2051G>T (p.Arg684Leu) c.2018G>T (p.Arg673Leu) c.2063G>T (p.Arg688Leu) | gnomAD v4 |
17 | g.745992C= | CA2242474516 | GEMIN4 | c.2051G= (p.Arg684=) c.2018G= (p.Arg673=) c.2063G= (p.Arg688=) | |
17 | g.745992C>G | CA397505803 | GEMIN4 | c.2051G>C (p.Arg684Pro) c.2018G>C (p.Arg673Pro) c.2063G>C (p.Arg688Pro) | |
17 | g.745992C>T | CA8262497 | GEMIN4 | c.2051G>A (p.Arg684Gln) c.2018G>A (p.Arg673Gln) c.2063G>A (p.Arg688Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745993G>A | CA8262498 | GEMIN4 | c.2050C>T (p.Arg684Ter) c.2017C>T (p.Arg673Ter) c.2062C>T (p.Arg688Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745993G>C | CA397505804 | GEMIN4 | c.2050C>G (p.Arg684Gly) c.2017C>G (p.Arg673Gly) c.2062C>G (p.Arg688Gly) | |
17 | g.745993G= | CA2242474517 | GEMIN4 | c.2050C= (p.Arg684=) c.2017C= (p.Arg673=) c.2062C= (p.Arg688=) | |
17 | g.745993G>T | CA497383931 | GEMIN4 | c.2050C>A (p.Arg684=) c.2017C>A (p.Arg673=) c.2062C>A (p.Arg688=) | |
17 | g.745994G>A | CA497383933 | GEMIN4 | c.2049C>T (p.Cys683=) c.2016C>T (p.Cys672=) c.2061C>T (p.Cys687=) | |
17 | g.745994G>C | CA397505805 | GEMIN4 | c.2049C>G (p.Cys683Trp) c.2016C>G (p.Cys672Trp) c.2061C>G (p.Cys687Trp) | |
17 | g.745994G>T | CA397505806 | GEMIN4 | c.2049C>A (p.Cys683Ter) c.2016C>A (p.Cys672Ter) c.2061C>A (p.Cys687Ter) | gnomAD v4 |
17 | g.745995C>A | CA397505809 | GEMIN4 | c.2048G>T (p.Cys683Phe) c.2015G>T (p.Cys672Phe) c.2060G>T (p.Cys687Phe) | |
17 | g.745995C>G | CA397505807 | GEMIN4 | c.2048G>C (p.Cys683Ser) c.2015G>C (p.Cys672Ser) c.2060G>C (p.Cys687Ser) | |
17 | g.745995C>T | CA397505808 | GEMIN4 | c.2048G>A (p.Cys683Tyr) c.2015G>A (p.Cys672Tyr) c.2060G>A (p.Cys687Tyr) |