Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.223053165C>A | CA351121325 | KCNE4 | c.335C>A (p.Ala112Glu) c.488C>A (p.Ala163Glu) n.75+891C>A | |
2 | g.223053165C>G | CA351121323 | KCNE4 | c.335C>G (p.Ala112Gly) c.488C>G (p.Ala163Gly) n.75+891C>G | |
2 | g.223053165C>T | CA351121324 | KCNE4 | c.335C>T (p.Ala112Val) c.488C>T (p.Ala163Val) n.75+891C>T | gnomAD v3 gnomAD v4 |
2 | g.223053166G>A | CA431669527 | KCNE4 | c.336G>A (p.Ala112=) c.489G>A (p.Ala163=) n.75+892G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.223053166G>C | CA431669528 | KCNE4 | c.336G>C (p.Ala112=) c.489G>C (p.Ala163=) n.75+892G>C | |
2 | g.223053166G= | CA1330889662 | KCNE4 | c.336G= (p.Ala112=) c.489G= (p.Ala163=) n.75+892G= | |
2 | g.223053166G>T | CA2137840 | KCNE4 | c.336G>T (p.Ala112=) c.489G>T (p.Ala163=) n.75+892G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053167C>A | CA351121326 | KCNE4 | c.337C>A (p.Leu113Met) c.490C>A (p.Leu164Met) n.75+893C>A | |
2 | g.223053167C= | CA1330889663 | KCNE4 | c.337C= (p.Leu113=) c.490C= (p.Leu164=) n.75+893C= | |
2 | g.223053167C>G | CA351121327 | KCNE4 | c.337C>G (p.Leu113Val) c.490C>G (p.Leu164Val) n.75+893C>G | |
2 | g.223053167C>T | CA431669529 | KCNE4 | c.337C>T (p.Leu113=) c.490C>T (p.Leu164=) n.75+893C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053168T>A | CA351121328 | KCNE4 | c.338T>A (p.Leu113Gln) c.491T>A (p.Leu164Gln) n.75+894T>A | |
2 | g.223053168T>C | CA351121329 | KCNE4 | c.338T>C (p.Leu113Pro) c.491T>C (p.Leu164Pro) n.75+894T>C | |
2 | g.223053168T>G | CA351121330 | KCNE4 | c.338T>G (p.Leu113Arg) c.491T>G (p.Leu164Arg) n.75+894T>G | |
2 | g.223053169G>A | CA66396449 | KCNE4 | c.339G>A (p.Leu113=) c.492G>A (p.Leu164=) n.75+895G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053169G>C | CA431669531 | KCNE4 | c.339G>C (p.Leu113=) c.492G>C (p.Leu164=) n.75+895G>C | |
2 | g.223053169G= | CA1330889664 | KCNE4 | c.339G= (p.Leu113=) c.492G= (p.Leu164=) n.75+895G= | |
2 | g.223053169G>T | CA431669530 | KCNE4 | c.339G>T (p.Leu113=) c.492G>T (p.Leu164=) n.75+895G>T | |
2 | g.223053170T>A | CA351121331 | KCNE4 | c.340T>A (p.Ser114Thr) c.493T>A (p.Ser165Thr) n.75+896T>A | |
2 | g.223053170T>C | CA351121332 | KCNE4 | c.340T>C (p.Ser114Pro) c.493T>C (p.Ser165Pro) n.75+896T>C | dbSNP |
2 | g.223053170T>G | CA351121333 | KCNE4 | c.340T>G (p.Ser114Ala) c.493T>G (p.Ser165Ala) n.75+896T>G | |
2 | g.223053171C>A | CA351121334 | KCNE4 | c.341C>A (p.Ser114Tyr) c.494C>A (p.Ser165Tyr) n.75+897C>A | |
2 | g.223053171C= | CA1330889665 | KCNE4 | c.341C= (p.Ser114=) c.494C= (p.Ser165=) n.75+897C= | |
2 | g.223053171C>G | CA351121335 | KCNE4 | c.341C>G (p.Ser114Cys) c.494C>G (p.Ser165Cys) n.75+897C>G | dbSNP gnomAD v2 |
2 | g.223053171C>T | CA351121336 | KCNE4 | c.341C>T (p.Ser114Phe) c.494C>T (p.Ser165Phe) n.75+897C>T | |
2 | g.223053172C>A | CA431669532 | KCNE4 | c.342C>A (p.Ser114=) c.495C>A (p.Ser165=) n.75+898C>A | |
2 | g.223053172C= | CA1330889666 | KCNE4 | c.342C= (p.Ser114=) c.495C= (p.Ser165=) n.75+898C= | |
2 | g.223053172C>G | CA431669533 | KCNE4 | c.342C>G (p.Ser114=) c.495C>G (p.Ser165=) n.75+898C>G | |
2 | g.223053172C>T | CA431669534 | KCNE4 | c.342C>T (p.Ser114=) c.495C>T (p.Ser165=) n.75+898C>T | dbSNP gnomAD v4 |
2 | g.223053173T>A | CA351121338 | KCNE4 | c.343T>A (p.Cys115Ser) c.496T>A (p.Cys166Ser) n.75+899T>A | |
2 | g.223053173T>C | CA351121339 | KCNE4 | c.343T>C (p.Cys115Arg) c.496T>C (p.Cys166Arg) n.75+899T>C | gnomAD v4 |
2 | g.223053173T>G | CA351121337 | KCNE4 | c.343T>G (p.Cys115Gly) c.496T>G (p.Cys166Gly) n.75+899T>G | |
2 | g.223053174G>A | CA351121340 | KCNE4 | c.344G>A (p.Cys115Tyr) c.497G>A (p.Cys166Tyr) n.75+900G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053174G>C | CA351121342 | KCNE4 | c.344G>C (p.Cys115Ser) c.497G>C (p.Cys166Ser) n.75+900G>C | |
2 | g.223053174G= | CA1330889667 | KCNE4 | c.344G= (p.Cys115=) c.497G= (p.Cys166=) n.75+900G= | |
2 | g.223053174G>T | CA351121341 | KCNE4 | c.344G>T (p.Cys115Phe) c.497G>T (p.Cys166Phe) n.75+900G>T | |
2 | g.223053175C>A | CA351121343 | KCNE4 | c.345C>A (p.Cys115Ter) c.498C>A (p.Cys166Ter) n.75+901C>A | |
2 | g.223053175C>G | CA351121344 | KCNE4 | c.345C>G (p.Cys115Trp) c.498C>G (p.Cys166Trp) n.75+901C>G | |
2 | g.223053175C>T | CA431669535 | KCNE4 | c.345C>T (p.Cys115=) c.498C>T (p.Cys166=) n.75+901C>T | |
2 | g.223053176A= | CA1330889668 | KCNE4 | c.346A= (p.Thr116=) c.499A= (p.Thr167=) n.75+902A= | |
2 | g.223053176A>C | CA2137841 | KCNE4 | c.346A>C (p.Thr116Pro) c.499A>C (p.Thr167Pro) n.75+902A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053176A>G | CA351121345 | KCNE4 | c.346A>G (p.Thr116Ala) c.499A>G (p.Thr167Ala) n.75+902A>G | gnomAD v4 |
2 | g.223053176A>T | CA351121346 | KCNE4 | c.346A>T (p.Thr116Ser) c.499A>T (p.Thr167Ser) n.75+902A>T | |
2 | g.223053177C>A | CA351121347 | KCNE4 | c.347C>A (p.Thr116Asn) c.500C>A (p.Thr167Asn) n.75+903C>A | |
2 | g.223053177C>G | CA351121348 | KCNE4 | c.347C>G (p.Thr116Ser) c.500C>G (p.Thr167Ser) n.75+903C>G | |
2 | g.223053177C>T | CA351121349 | KCNE4 | c.347C>T (p.Thr116Ile) c.500C>T (p.Thr167Ile) n.75+903C>T | |
2 | g.223053178C>A | CA431669536 | KCNE4 | c.348C>A (p.Thr116=) c.501C>A (p.Thr167=) n.75+904C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053178C= | CA1330889669 | KCNE4 | c.348C= (p.Thr116=) c.501C= (p.Thr167=) n.75+904C= | |
2 | g.223053178C>G | CA431669537 | KCNE4 | c.348C>G (p.Thr116=) c.501C>G (p.Thr167=) n.75+904C>G | |
2 | g.223053178C>T | CA431669538 | KCNE4 | c.348C>T (p.Thr116=) c.501C>T (p.Thr167=) n.75+904C>T | dbSNP gnomAD v3 gnomAD v4 |