| 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.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) |