Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.745901_745915delinsAAGCTGCCAGTATTT | CA2242474470 | GEMIN4 | c.2128_2142delinsAAATACTGGCAGCTT (p.Lys710=) c.2095_2109delinsAAATACTGGCAGCTT (p.Lys699=) c.2140_2154delinsAAATACTGGCAGCTT (p.Lys714=) | |
17 | g.745902_745915del | CA2242474472 | GEMIN4 | c.2128_2141del (p.Lys710SerfsTer11) c.2095_2108del (p.Lys699SerfsTer11) c.2140_2153del (p.Lys714SerfsTer11) | dbSNP |
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.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) | |
17 | g.745996A= | CA2242474518 | GEMIN4 | c.2047T= (p.Cys683=) c.2014T= (p.Cys672=) c.2059T= (p.Cys687=) | |
17 | g.745996A>C | CA397505810 | GEMIN4 | c.2047T>G (p.Cys683Gly) c.2014T>G (p.Cys672Gly) c.2059T>G (p.Cys687Gly) | |
17 | g.745996A>G | CA286713669 | GEMIN4 | c.2047T>C (p.Cys683Arg) c.2014T>C (p.Cys672Arg) c.2059T>C (p.Cys687Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745996A>T | CA397505811 | GEMIN4 | c.2047T>A (p.Cys683Ser) c.2014T>A (p.Cys672Ser) c.2059T>A (p.Cys687Ser) | |
17 | g.745997C>A | CA497383938 | GEMIN4 | c.2046G>T (p.Ala682=) c.2013G>T (p.Ala671=) c.2058G>T (p.Ala686=) | |
17 | g.745997C= | CA2242474519 | GEMIN4 | c.2046G= (p.Ala682=) c.2013G= (p.Ala671=) c.2058G= (p.Ala686=) | |
17 | g.745997C>G | CA497383940 | GEMIN4 | c.2046G>C (p.Ala682=) c.2013G>C (p.Ala671=) c.2058G>C (p.Ala686=) | |
17 | g.745997C>T | CA497383941 | GEMIN4 | c.2046G>A (p.Ala682=) c.2013G>A (p.Ala671=) c.2058G>A (p.Ala686=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745998G>A | CA286713670 | GEMIN4 | c.2045C>T (p.Ala682Val) c.2012C>T (p.Ala671Val) c.2057C>T (p.Ala686Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745998G>C | CA397505812 | GEMIN4 | c.2045C>G (p.Ala682Gly) c.2012C>G (p.Ala671Gly) c.2057C>G (p.Ala686Gly) | COSMIC COSMIC |
17 | g.745998G= | CA2242474520 | GEMIN4 | c.2045C= (p.Ala682=) c.2012C= (p.Ala671=) c.2057C= (p.Ala686=) | |
17 | g.745998G>T | CA397505813 | GEMIN4 | c.2045C>A (p.Ala682Glu) c.2012C>A (p.Ala671Glu) c.2057C>A (p.Ala686Glu) | |
17 | g.745998dup | CA2635153305 | GEMIN4 | c.2045dup (p.Cys683ValfsTer?) c.2012dup (p.Cys672ValfsTer?) c.2057dup (p.Cys687ValfsTer?) | gnomAD v4 |
17 | g.745999C>A | CA397505814 | GEMIN4 | c.2044G>T (p.Ala682Ser) c.2011G>T (p.Ala671Ser) c.2056G>T (p.Ala686Ser) | |
17 | g.745999C= | CA2242474521 | GEMIN4 | c.2044G= (p.Ala682=) c.2011G= (p.Ala671=) c.2056G= (p.Ala686=) | |
17 | g.745999C>G | CA397505815 | GEMIN4 | c.2044G>C (p.Ala682Pro) c.2011G>C (p.Ala671Pro) c.2056G>C (p.Ala686Pro) | |
17 | g.745999C>T | CA8262499 | GEMIN4 | c.2044G>A (p.Ala682Thr) c.2011G>A (p.Ala671Thr) c.2056G>A (p.Ala686Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746000G>A | CA8262500 | GEMIN4 | c.2043C>T (p.Asn681=) c.2010C>T (p.Asn670=) c.2055C>T (p.Asn685=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.746000G>C | CA397505816 | GEMIN4 | c.2043C>G (p.Asn681Lys) c.2010C>G (p.Asn670Lys) c.2055C>G (p.Asn685Lys) | |
17 | g.746000G= | CA2242474522 | GEMIN4 | c.2043C= (p.Asn681=) c.2010C= (p.Asn670=) c.2055C= (p.Asn685=) | |
17 | g.746000G>T | CA397505817 | GEMIN4 | c.2043C>A (p.Asn681Lys) c.2010C>A (p.Asn670Lys) c.2055C>A (p.Asn685Lys) | |
17 | g.746001T>A | CA397505820 | GEMIN4 | c.2042A>T (p.Asn681Ile) c.2009A>T (p.Asn670Ile) c.2054A>T (p.Asn685Ile) | |
17 | g.746001T>C | CA397505819 | GEMIN4 | c.2042A>G (p.Asn681Ser) c.2009A>G (p.Asn670Ser) c.2054A>G (p.Asn685Ser) | |
17 | g.746001T>G | CA397505818 | GEMIN4 | c.2042A>C (p.Asn681Thr) c.2009A>C (p.Asn670Thr) c.2054A>C (p.Asn685Thr) | |
17 | g.746002T>A | CA8262501 | GEMIN4 | c.2041A>T (p.Asn681Tyr) c.2008A>T (p.Asn670Tyr) c.2053A>T (p.Asn685Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746002T>C | CA397505822 | GEMIN4 | c.2041A>G (p.Asn681Asp) c.2008A>G (p.Asn670Asp) c.2053A>G (p.Asn685Asp) | gnomAD v4 |
17 | g.746002T>G | CA397505821 | GEMIN4 | c.2041A>C (p.Asn681His) c.2008A>C (p.Asn670His) c.2053A>C (p.Asn685His) | |
17 | g.746002T= | CA2242474523 | GEMIN4 | c.2041A= (p.Asn681=) c.2008A= (p.Asn670=) c.2053A= (p.Asn685=) | |
17 | g.746003T>A | CA497383951 | GEMIN4 | c.2040A>T (p.Ala680=) c.2007A>T (p.Ala669=) c.2052A>T (p.Ala684=) | |
17 | g.746003T>C | CA497383952 | GEMIN4 | c.2040A>G (p.Ala680=) c.2007A>G (p.Ala669=) c.2052A>G (p.Ala684=) | |
17 | g.746003T>G | CA497383954 | GEMIN4 | c.2040A>C (p.Ala680=) c.2007A>C (p.Ala669=) c.2052A>C (p.Ala684=) | |
17 | g.746004G>A | CA397505823 | GEMIN4 | c.2039C>T (p.Ala680Val) c.2006C>T (p.Ala669Val) c.2051C>T (p.Ala684Val) | dbSNP gnomAD v4 |
17 | g.746004G>C | CA397505824 | GEMIN4 | c.2039C>G (p.Ala680Gly) c.2006C>G (p.Ala669Gly) c.2051C>G (p.Ala684Gly) | |
17 | g.746004G= | CA2242474524 | GEMIN4 | c.2039C= (p.Ala680=) c.2006C= (p.Ala669=) c.2051C= (p.Ala684=) | |
17 | g.746004G>T | CA397505825 | GEMIN4 | c.2039C>A (p.Ala680Glu) c.2006C>A (p.Ala669Glu) c.2051C>A (p.Ala684Glu) | dbSNP |
17 | g.746005C>A | CA397505826 | GEMIN4 | c.2038G>T (p.Ala680Ser) c.2005G>T (p.Ala669Ser) c.2050G>T (p.Ala684Ser) | |
17 | g.746005C= | CA2242474525 | GEMIN4 | c.2038G= (p.Ala680=) c.2005G= (p.Ala669=) c.2050G= (p.Ala684=) | |
17 | g.746005C>G | CA397505827 | GEMIN4 | c.2038G>C (p.Ala680Pro) c.2005G>C (p.Ala669Pro) c.2050G>C (p.Ala684Pro) | |
17 | g.746005C>T | CA8262502 | GEMIN4 | c.2038G>A (p.Ala680Thr) c.2005G>A (p.Ala669Thr) c.2050G>A (p.Ala684Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746006C>A | CA397505828 | GEMIN4 | c.2037G>T (p.Glu679Asp) c.2004G>T (p.Glu668Asp) c.2049G>T (p.Glu683Asp) | |
17 | g.746006C= | CA2242474526 | GEMIN4 | c.2037G= (p.Glu679=) c.2004G= (p.Glu668=) c.2049G= (p.Glu683=) | |
17 | g.746006C>G | CA397505829 | GEMIN4 | c.2037G>C (p.Glu679Asp) c.2004G>C (p.Glu668Asp) c.2049G>C (p.Glu683Asp) | |
17 | g.746006C>T | CA286713671 | GEMIN4 | c.2037G>A (p.Glu679=) c.2004G>A (p.Glu668=) c.2049G>A (p.Glu683=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746007T>A | CA397505830 | GEMIN4 | c.2036A>T (p.Glu679Val) c.2003A>T (p.Glu668Val) c.2048A>T (p.Glu683Val) | |
17 | g.746007T>C | CA397505831 | GEMIN4 | c.2036A>G (p.Glu679Gly) c.2003A>G (p.Glu668Gly) c.2048A>G (p.Glu683Gly) | gnomAD v4 |
17 | g.746007T>G | CA397505832 | GEMIN4 | c.2036A>C (p.Glu679Ala) c.2003A>C (p.Glu668Ala) c.2048A>C (p.Glu683Ala) | |
17 | g.746008C>A | CA397505835 | GEMIN4 | c.2035G>T (p.Glu679Ter) c.2002G>T (p.Glu668Ter) c.2047G>T (p.Glu683Ter) | |
17 | g.746008C>G | CA397505834 | GEMIN4 | c.2035G>C (p.Glu679Gln) c.2002G>C (p.Glu668Gln) c.2047G>C (p.Glu683Gln) | |
17 | g.746008C>T | CA397505833 | GEMIN4 | c.2035G>A (p.Glu679Lys) c.2002G>A (p.Glu668Lys) c.2047G>A (p.Glu683Lys) | |
17 | g.746009T>A | CA497383970 | GEMIN4 | c.2034A>T (p.Leu678=) c.2001A>T (p.Leu667=) c.2046A>T (p.Leu682=) | |
17 | g.746009T>C | CA497383971 | GEMIN4 | c.2034A>G (p.Leu678=) c.2001A>G (p.Leu667=) c.2046A>G (p.Leu682=) | |
17 | g.746009T>G | CA497383973 | GEMIN4 | c.2034A>C (p.Leu678=) c.2001A>C (p.Leu667=) c.2046A>C (p.Leu682=) | |
17 | g.746010A= | CA2242474527 | GEMIN4 | c.2033T= (p.Leu678=) c.2000T= (p.Leu667=) c.2045T= (p.Leu682=) | |
17 | g.746010A>C | CA397505836 | GEMIN4 | c.2033T>G (p.Leu678Arg) c.2000T>G (p.Leu667Arg) c.2045T>G (p.Leu682Arg) | |
17 | g.746010A>G | CA8262503 | GEMIN4 | c.2033T>C (p.Leu678Pro) c.2000T>C (p.Leu667Pro) c.2045T>C (p.Leu682Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746010A>T | CA397505837 | GEMIN4 | c.2033T>A (p.Leu678Gln) c.2000T>A (p.Leu667Gln) c.2045T>A (p.Leu682Gln) | |
17 | g.746011G>A | CA497383979 | GEMIN4 | c.2032C>T (p.Leu678=) c.1999C>T (p.Leu667=) c.2044C>T (p.Leu682=) | |
17 | g.746011G>C | CA397505838 | GEMIN4 | c.2032C>G (p.Leu678Val) c.1999C>G (p.Leu667Val) c.2044C>G (p.Leu682Val) | |
17 | g.746011G>T | CA397505839 | GEMIN4 | c.2032C>A (p.Leu678Ile) c.1999C>A (p.Leu667Ile) c.2044C>A (p.Leu682Ile) | gnomAD v4 |
17 | g.746012A= | CA2242474528 | GEMIN4 | c.2031T= (p.Thr677=) c.1998T= (p.Thr666=) c.2043T= (p.Thr681=) | |
17 | g.746012A>C | CA8262504 | GEMIN4 | c.2031T>G (p.Thr677=) c.1998T>G (p.Thr666=) c.2043T>G (p.Thr681=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746012A>G | CA497383982 | GEMIN4 | c.2031T>C (p.Thr677=) c.1998T>C (p.Thr666=) c.2043T>C (p.Thr681=) | |
17 | g.746012A>T | CA497383983 | GEMIN4 | c.2031T>A (p.Thr677=) c.1998T>A (p.Thr666=) c.2043T>A (p.Thr681=) | |
17 | g.746013G>A | CA8262505 | GEMIN4 | c.2030C>T (p.Thr677Ile) c.1997C>T (p.Thr666Ile) c.2042C>T (p.Thr681Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746013G>C | CA397505840 | GEMIN4 | c.2030C>G (p.Thr677Ser) c.1997C>G (p.Thr666Ser) c.2042C>G (p.Thr681Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746013G= | CA2242474529 | GEMIN4 | c.2030C= (p.Thr677=) c.1997C= (p.Thr666=) c.2042C= (p.Thr681=) | |
17 | g.746013G>T | CA397505841 | GEMIN4 | c.2030C>A (p.Thr677Asn) c.1997C>A (p.Thr666Asn) c.2042C>A (p.Thr681Asn) |