Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.24596157T>A | CA362971420 | KIAA0319 | c.517A>T (p.Lys173Ter) c.382A>T (p.Lys128Ter) c.490A>T (p.Lys164Ter) c.61A>T (p.Lys21Ter) c.535A>T (p.Lys179Ter) c.499A>T (p.Lys167Ter) n.760A>T | |
6 | g.24596157T>C | CA362971421 | KIAA0319 | c.517A>G (p.Lys173Glu) c.382A>G (p.Lys128Glu) c.490A>G (p.Lys164Glu) c.61A>G (p.Lys21Glu) c.535A>G (p.Lys179Glu) c.499A>G (p.Lys167Glu) n.760A>G | |
6 | g.24596157T>G | CA362971422 | KIAA0319 | c.517A>C (p.Lys173Gln) c.382A>C (p.Lys128Gln) c.490A>C (p.Lys164Gln) c.61A>C (p.Lys21Gln) c.535A>C (p.Lys179Gln) c.499A>C (p.Lys167Gln) n.760A>C | |
6 | g.24596158G>A | CA448958885 | KIAA0319 | c.516C>T (p.Gly172=) c.381C>T (p.Gly127=) c.489C>T (p.Gly163=) c.60C>T (p.Gly20=) c.534C>T (p.Gly178=) c.498C>T (p.Gly166=) n.759C>T | |
6 | g.24596158G>C | CA448958886 | KIAA0319 | c.516C>G (p.Gly172=) c.381C>G (p.Gly127=) c.489C>G (p.Gly163=) c.60C>G (p.Gly20=) c.534C>G (p.Gly178=) c.498C>G (p.Gly166=) n.759C>G | |
6 | g.24596158G>T | CA448958887 | KIAA0319 | c.516C>A (p.Gly172=) c.381C>A (p.Gly127=) c.489C>A (p.Gly163=) c.60C>A (p.Gly20=) c.534C>A (p.Gly178=) c.498C>A (p.Gly166=) n.759C>A | |
6 | g.24596159C>A | CA362971423 | KIAA0319 | c.515G>T (p.Gly172Val) c.380G>T (p.Gly127Val) c.488G>T (p.Gly163Val) c.59G>T (p.Gly20Val) c.533G>T (p.Gly178Val) c.497G>T (p.Gly166Val) n.758G>T | |
6 | g.24596159C>G | CA362971424 | KIAA0319 | c.515G>C (p.Gly172Ala) c.380G>C (p.Gly127Ala) c.488G>C (p.Gly163Ala) c.59G>C (p.Gly20Ala) c.533G>C (p.Gly178Ala) c.497G>C (p.Gly166Ala) n.758G>C | |
6 | g.24596159C>T | CA362971425 | KIAA0319 | c.515G>A (p.Gly172Asp) c.380G>A (p.Gly127Asp) c.488G>A (p.Gly163Asp) c.59G>A (p.Gly20Asp) c.533G>A (p.Gly178Asp) c.497G>A (p.Gly166Asp) n.758G>A | |
6 | g.24596160del | CA2839903889 | KIAA0319 | c.515del (p.Gly172AlafsTer?) c.380del (p.Gly127AlafsTer?) c.488del (p.Gly163AlafsTer?) c.59del (p.Gly20AlafsTer?) c.533del (p.Gly178AlafsTer?) c.497del (p.Gly166AlafsTer?) n.758del | |
6 | g.24596160C>A | CA362971428 | KIAA0319 | c.514G>T (p.Gly172Cys) c.379G>T (p.Gly127Cys) c.487G>T (p.Gly163Cys) c.58G>T (p.Gly20Cys) c.532G>T (p.Gly178Cys) c.496G>T (p.Gly166Cys) n.757G>T | |
6 | g.24596160C>G | CA362971427 | KIAA0319 | c.514G>C (p.Gly172Arg) c.379G>C (p.Gly127Arg) c.487G>C (p.Gly163Arg) c.58G>C (p.Gly20Arg) c.532G>C (p.Gly178Arg) c.496G>C (p.Gly166Arg) n.757G>C | |
6 | g.24596160C>T | CA362971426 | KIAA0319 | c.514G>A (p.Gly172Ser) c.379G>A (p.Gly127Ser) c.487G>A (p.Gly163Ser) c.58G>A (p.Gly20Ser) c.532G>A (p.Gly178Ser) c.496G>A (p.Gly166Ser) n.757G>A | gnomAD v4 |
6 | g.24596161A>C | CA362971429 | KIAA0319 | c.513T>G (p.Ser171Arg) c.378T>G (p.Ser126Arg) c.486T>G (p.Ser162Arg) c.57T>G (p.Ser19Arg) c.531T>G (p.Ser177Arg) c.495T>G (p.Ser165Arg) n.756T>G | gnomAD v4 |
6 | g.24596161A>G | CA448958888 | KIAA0319 | c.513T>C (p.Ser171=) c.378T>C (p.Ser126=) c.486T>C (p.Ser162=) c.57T>C (p.Ser19=) c.531T>C (p.Ser177=) c.495T>C (p.Ser165=) n.756T>C | |
6 | g.24596161A>T | CA362971430 | KIAA0319 | c.513T>A (p.Ser171Arg) c.378T>A (p.Ser126Arg) c.486T>A (p.Ser162Arg) c.57T>A (p.Ser19Arg) c.531T>A (p.Ser177Arg) c.495T>A (p.Ser165Arg) n.756T>A | |
6 | g.24596162C>A | CA362971431 | KIAA0319 | c.512G>T (p.Ser171Ile) c.377G>T (p.Ser126Ile) c.485G>T (p.Ser162Ile) c.56G>T (p.Ser19Ile) c.530G>T (p.Ser177Ile) c.494G>T (p.Ser165Ile) n.755G>T | |
6 | g.24596162C= | CA1616548826 | KIAA0319 | c.512G= (p.Ser171=) c.377G= (p.Ser126=) c.485G= (p.Ser162=) c.56G= (p.Ser19=) c.530G= (p.Ser177=) c.494G= (p.Ser165=) n.755G= | |
6 | g.24596162C>G | CA362971432 | KIAA0319 | c.512G>C (p.Ser171Thr) c.377G>C (p.Ser126Thr) c.485G>C (p.Ser162Thr) c.56G>C (p.Ser19Thr) c.530G>C (p.Ser177Thr) c.494G>C (p.Ser165Thr) n.755G>C | dbSNP gnomAD v4 |
6 | g.24596162C>T | CA3657830 | KIAA0319 | c.512G>A (p.Ser171Asn) c.377G>A (p.Ser126Asn) c.485G>A (p.Ser162Asn) c.56G>A (p.Ser19Asn) c.530G>A (p.Ser177Asn) c.494G>A (p.Ser165Asn) n.755G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596163T>A | CA362971433 | KIAA0319 | c.511A>T (p.Ser171Cys) c.376A>T (p.Ser126Cys) c.484A>T (p.Ser162Cys) c.55A>T (p.Ser19Cys) c.529A>T (p.Ser177Cys) c.493A>T (p.Ser165Cys) n.754A>T | |
6 | g.24596163T>C | CA362971434 | KIAA0319 | c.511A>G (p.Ser171Gly) c.376A>G (p.Ser126Gly) c.484A>G (p.Ser162Gly) c.55A>G (p.Ser19Gly) c.529A>G (p.Ser177Gly) c.493A>G (p.Ser165Gly) n.754A>G | |
6 | g.24596163T>G | CA362971435 | KIAA0319 | c.511A>C (p.Ser171Arg) c.376A>C (p.Ser126Arg) c.484A>C (p.Ser162Arg) c.55A>C (p.Ser19Arg) c.529A>C (p.Ser177Arg) c.493A>C (p.Ser165Arg) n.754A>C | |
6 | g.24596164G>A | CA448958889 | KIAA0319 | c.510C>T (p.Pro170=) c.375C>T (p.Pro125=) c.483C>T (p.Pro161=) c.54C>T (p.Pro18=) c.528C>T (p.Pro176=) c.492C>T (p.Pro164=) n.753C>T | |
6 | g.24596164G>C | CA448958890 | KIAA0319 | c.510C>G (p.Pro170=) c.375C>G (p.Pro125=) c.483C>G (p.Pro161=) c.54C>G (p.Pro18=) c.528C>G (p.Pro176=) c.492C>G (p.Pro164=) n.753C>G | |
6 | g.24596164G>T | CA448958891 | KIAA0319 | c.510C>A (p.Pro170=) c.375C>A (p.Pro125=) c.483C>A (p.Pro161=) c.54C>A (p.Pro18=) c.528C>A (p.Pro176=) c.492C>A (p.Pro164=) n.753C>A | |
6 | g.24596165G>A | CA362971436 | KIAA0319 | c.509C>T (p.Pro170Leu) c.374C>T (p.Pro125Leu) c.482C>T (p.Pro161Leu) c.53C>T (p.Pro18Leu) c.527C>T (p.Pro176Leu) c.491C>T (p.Pro164Leu) n.752C>T | |
6 | g.24596165G>C | CA362971437 | KIAA0319 | c.509C>G (p.Pro170Arg) c.374C>G (p.Pro125Arg) c.482C>G (p.Pro161Arg) c.53C>G (p.Pro18Arg) c.527C>G (p.Pro176Arg) c.491C>G (p.Pro164Arg) n.752C>G | |
6 | g.24596165G>T | CA362971438 | KIAA0319 | c.509C>A (p.Pro170His) c.374C>A (p.Pro125His) c.482C>A (p.Pro161His) c.53C>A (p.Pro18His) c.527C>A (p.Pro176His) c.491C>A (p.Pro164His) n.752C>A | gnomAD v4 |
6 | g.24596166G>A | CA362971441 | KIAA0319 | c.508C>T (p.Pro170Ser) c.373C>T (p.Pro125Ser) c.481C>T (p.Pro161Ser) c.52C>T (p.Pro18Ser) c.526C>T (p.Pro176Ser) c.490C>T (p.Pro164Ser) n.751C>T | |
6 | g.24596166G>C | CA362971440 | KIAA0319 | c.508C>G (p.Pro170Ala) c.373C>G (p.Pro125Ala) c.481C>G (p.Pro161Ala) c.52C>G (p.Pro18Ala) c.526C>G (p.Pro176Ala) c.490C>G (p.Pro164Ala) n.751C>G | |
6 | g.24596166G>T | CA362971439 | KIAA0319 | c.508C>A (p.Pro170Thr) c.373C>A (p.Pro125Thr) c.481C>A (p.Pro161Thr) c.52C>A (p.Pro18Thr) c.526C>A (p.Pro176Thr) c.490C>A (p.Pro164Thr) n.751C>A | |
6 | g.24596167T>A | CA362971442 | KIAA0319 | c.507A>T (p.Gln169His) c.372A>T (p.Gln124His) c.480A>T (p.Gln160His) c.51A>T (p.Gln17His) c.525A>T (p.Gln175His) c.489A>T (p.Gln163His) n.750A>T | |
6 | g.24596167T>C | CA448958892 | KIAA0319 | c.507A>G (p.Gln169=) c.372A>G (p.Gln124=) c.480A>G (p.Gln160=) c.51A>G (p.Gln17=) c.525A>G (p.Gln175=) c.489A>G (p.Gln163=) n.750A>G | |
6 | g.24596167T>G | CA362971443 | KIAA0319 | c.507A>C (p.Gln169His) c.372A>C (p.Gln124His) c.480A>C (p.Gln160His) c.51A>C (p.Gln17His) c.525A>C (p.Gln175His) c.489A>C (p.Gln163His) n.750A>C | |
6 | g.24596168T>A | CA362971444 | KIAA0319 | c.506A>T (p.Gln169Leu) c.371A>T (p.Gln124Leu) c.479A>T (p.Gln160Leu) c.50A>T (p.Gln17Leu) c.524A>T (p.Gln175Leu) c.488A>T (p.Gln163Leu) n.749A>T | |
6 | g.24596168T>C | CA362971445 | KIAA0319 | c.506A>G (p.Gln169Arg) c.371A>G (p.Gln124Arg) c.479A>G (p.Gln160Arg) c.50A>G (p.Gln17Arg) c.524A>G (p.Gln175Arg) c.488A>G (p.Gln163Arg) n.749A>G | |
6 | g.24596168T>G | CA362971446 | KIAA0319 | c.506A>C (p.Gln169Pro) c.371A>C (p.Gln124Pro) c.479A>C (p.Gln160Pro) c.50A>C (p.Gln17Pro) c.524A>C (p.Gln175Pro) c.488A>C (p.Gln163Pro) n.749A>C | |
6 | g.24596169G>A | CA362971447 | KIAA0319 | c.505C>T (p.Gln169Ter) c.370C>T (p.Gln124Ter) c.478C>T (p.Gln160Ter) c.49C>T (p.Gln17Ter) c.523C>T (p.Gln175Ter) c.487C>T (p.Gln163Ter) n.748C>T | |
6 | g.24596169G>C | CA362971449 | KIAA0319 | c.505C>G (p.Gln169Glu) c.370C>G (p.Gln124Glu) c.478C>G (p.Gln160Glu) c.49C>G (p.Gln17Glu) c.523C>G (p.Gln175Glu) c.487C>G (p.Gln163Glu) n.748C>G | |
6 | g.24596169G>T | CA362971451 | KIAA0319 | c.505C>A (p.Gln169Lys) c.370C>A (p.Gln124Lys) c.478C>A (p.Gln160Lys) c.49C>A (p.Gln17Lys) c.523C>A (p.Gln175Lys) c.487C>A (p.Gln163Lys) n.748C>A | COSMIC |
6 | g.24596170C>A | CA362971453 | KIAA0319 | c.504G>T (p.Leu168Phe) c.369G>T (p.Leu123Phe) c.477G>T (p.Leu159Phe) c.48G>T (p.Leu16Phe) c.522G>T (p.Leu174Phe) c.486G>T (p.Leu162Phe) n.747G>T | |
6 | g.24596170C>G | CA362971455 | KIAA0319 | c.504G>C (p.Leu168Phe) c.369G>C (p.Leu123Phe) c.477G>C (p.Leu159Phe) c.48G>C (p.Leu16Phe) c.522G>C (p.Leu174Phe) c.486G>C (p.Leu162Phe) n.747G>C | |
6 | g.24596170C>T | CA448958893 | KIAA0319 | c.504G>A (p.Leu168=) c.369G>A (p.Leu123=) c.477G>A (p.Leu159=) c.48G>A (p.Leu16=) c.522G>A (p.Leu174=) c.486G>A (p.Leu162=) n.747G>A | |
6 | g.24596171A= | CA1616548827 | KIAA0319 | c.503T= (p.Leu168=) c.368T= (p.Leu123=) c.476T= (p.Leu159=) c.47T= (p.Leu16=) c.521T= (p.Leu174=) c.485T= (p.Leu162=) n.746T= | |
6 | g.24596171A>C | CA136131447 | KIAA0319 | c.503T>G (p.Leu168Trp) c.368T>G (p.Leu123Trp) c.476T>G (p.Leu159Trp) c.47T>G (p.Leu16Trp) c.521T>G (p.Leu174Trp) c.485T>G (p.Leu162Trp) n.746T>G | dbSNP |
6 | g.24596171A>G | CA362971458 | KIAA0319 | c.503T>C (p.Leu168Ser) c.368T>C (p.Leu123Ser) c.476T>C (p.Leu159Ser) c.47T>C (p.Leu16Ser) c.521T>C (p.Leu174Ser) c.485T>C (p.Leu162Ser) n.746T>C | |
6 | g.24596171A>T | CA362971460 | KIAA0319 | c.503T>A (p.Leu168Ter) c.368T>A (p.Leu123Ter) c.476T>A (p.Leu159Ter) c.47T>A (p.Leu16Ter) c.521T>A (p.Leu174Ter) c.485T>A (p.Leu162Ter) n.746T>A | |
6 | g.24596172A= | CA1616548828 | KIAA0319 | c.502T= (p.Leu168=) c.367T= (p.Leu123=) c.475T= (p.Leu159=) c.46T= (p.Leu16=) c.520T= (p.Leu174=) c.484T= (p.Leu162=) n.745T= | |
6 | g.24596172A>C | CA362971462 | KIAA0319 | c.502T>G (p.Leu168Val) c.367T>G (p.Leu123Val) c.475T>G (p.Leu159Val) c.46T>G (p.Leu16Val) c.520T>G (p.Leu174Val) c.484T>G (p.Leu162Val) n.745T>G | |
6 | g.24596172A>G | CA448959352 | KIAA0319 | c.502T>C (p.Leu168=) c.367T>C (p.Leu123=) c.475T>C (p.Leu159=) c.46T>C (p.Leu16=) c.520T>C (p.Leu174=) c.484T>C (p.Leu162=) n.745T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596172A>T | CA362971464 | KIAA0319 | c.502T>A (p.Leu168Met) c.367T>A (p.Leu123Met) c.475T>A (p.Leu159Met) c.46T>A (p.Leu16Met) c.520T>A (p.Leu174Met) c.484T>A (p.Leu162Met) n.745T>A | |
6 | g.24596173G>A | CA448959353 | KIAA0319 | c.501C>T (p.Leu167=) c.366C>T (p.Leu122=) c.474C>T (p.Leu158=) c.45C>T (p.Leu15=) c.519C>T (p.Leu173=) c.483C>T (p.Leu161=) n.744C>T | |
6 | g.24596173G>C | CA448959354 | KIAA0319 | c.501C>G (p.Leu167=) c.366C>G (p.Leu122=) c.474C>G (p.Leu158=) c.45C>G (p.Leu15=) c.519C>G (p.Leu173=) c.483C>G (p.Leu161=) n.744C>G | |
6 | g.24596173G>T | CA448959355 | KIAA0319 | c.501C>A (p.Leu167=) c.366C>A (p.Leu122=) c.474C>A (p.Leu158=) c.45C>A (p.Leu15=) c.519C>A (p.Leu173=) c.483C>A (p.Leu161=) n.744C>A | |
6 | g.24596174A>C | CA362971466 | KIAA0319 | c.500T>G (p.Leu167Arg) c.365T>G (p.Leu122Arg) c.473T>G (p.Leu158Arg) c.44T>G (p.Leu15Arg) c.518T>G (p.Leu173Arg) c.482T>G (p.Leu161Arg) n.743T>G | |
6 | g.24596174A>G | CA362971470 | KIAA0319 | c.500T>C (p.Leu167Pro) c.365T>C (p.Leu122Pro) c.473T>C (p.Leu158Pro) c.44T>C (p.Leu15Pro) c.518T>C (p.Leu173Pro) c.482T>C (p.Leu161Pro) n.743T>C | |
6 | g.24596174A>T | CA362971468 | KIAA0319 | c.500T>A (p.Leu167His) c.365T>A (p.Leu122His) c.473T>A (p.Leu158His) c.44T>A (p.Leu15His) c.518T>A (p.Leu173His) c.482T>A (p.Leu161His) n.743T>A | |
6 | g.24596175G>A | CA362971473 | KIAA0319 | c.499C>T (p.Leu167Phe) c.364C>T (p.Leu122Phe) c.472C>T (p.Leu158Phe) c.43C>T (p.Leu15Phe) c.517C>T (p.Leu173Phe) c.481C>T (p.Leu161Phe) n.742C>T | |
6 | g.24596175G>C | CA362971475 | KIAA0319 | c.499C>G (p.Leu167Val) c.364C>G (p.Leu122Val) c.472C>G (p.Leu158Val) c.43C>G (p.Leu15Val) c.517C>G (p.Leu173Val) c.481C>G (p.Leu161Val) n.742C>G | |
6 | g.24596175G>T | CA362971474 | KIAA0319 | c.499C>A (p.Leu167Ile) c.364C>A (p.Leu122Ile) c.472C>A (p.Leu158Ile) c.43C>A (p.Leu15Ile) c.517C>A (p.Leu173Ile) c.481C>A (p.Leu161Ile) n.742C>A | |
6 | g.24596176G>A | CA448959356 | KIAA0319 | c.498C>T (p.Asp166=) c.363C>T (p.Asp121=) c.471C>T (p.Asp157=) c.42C>T (p.Asp14=) c.516C>T (p.Asp172=) c.480C>T (p.Asp160=) n.741C>T | |
6 | g.24596176G>C | CA362971478 | KIAA0319 | c.498C>G (p.Asp166Glu) c.363C>G (p.Asp121Glu) c.471C>G (p.Asp157Glu) c.42C>G (p.Asp14Glu) c.516C>G (p.Asp172Glu) c.480C>G (p.Asp160Glu) n.741C>G | |
6 | g.24596176G>T | CA362971479 | KIAA0319 | c.498C>A (p.Asp166Glu) c.363C>A (p.Asp121Glu) c.471C>A (p.Asp157Glu) c.42C>A (p.Asp14Glu) c.516C>A (p.Asp172Glu) c.480C>A (p.Asp160Glu) n.741C>A | |
6 | g.24596177T>A | CA362971481 | KIAA0319 | c.497A>T (p.Asp166Val) c.362A>T (p.Asp121Val) c.470A>T (p.Asp157Val) c.41A>T (p.Asp14Val) c.515A>T (p.Asp172Val) c.479A>T (p.Asp160Val) n.740A>T | |
6 | g.24596177T>C | CA362971483 | KIAA0319 | c.497A>G (p.Asp166Gly) c.362A>G (p.Asp121Gly) c.470A>G (p.Asp157Gly) c.41A>G (p.Asp14Gly) c.515A>G (p.Asp172Gly) c.479A>G (p.Asp160Gly) n.740A>G | |
6 | g.24596177T>G | CA362971485 | KIAA0319 | c.497A>C (p.Asp166Ala) c.362A>C (p.Asp121Ala) c.470A>C (p.Asp157Ala) c.41A>C (p.Asp14Ala) c.515A>C (p.Asp172Ala) c.479A>C (p.Asp160Ala) n.740A>C | |
6 | g.24596178C>A | CA362971486 | KIAA0319 | c.496G>T (p.Asp166Tyr) c.361G>T (p.Asp121Tyr) c.469G>T (p.Asp157Tyr) c.40G>T (p.Asp14Tyr) c.514G>T (p.Asp172Tyr) c.478G>T (p.Asp160Tyr) n.739G>T | |
6 | g.24596178C>G | CA362971489 | KIAA0319 | c.496G>C (p.Asp166His) c.361G>C (p.Asp121His) c.469G>C (p.Asp157His) c.40G>C (p.Asp14His) c.514G>C (p.Asp172His) c.478G>C (p.Asp160His) n.739G>C | |
6 | g.24596178C>T | CA362971491 | KIAA0319 | c.496G>A (p.Asp166Asn) c.361G>A (p.Asp121Asn) c.469G>A (p.Asp157Asn) c.40G>A (p.Asp14Asn) c.514G>A (p.Asp172Asn) c.478G>A (p.Asp160Asn) n.739G>A | |
6 | g.24596179C>A | CA362971493 | KIAA0319 | c.495G>T (p.Lys165Asn) c.360G>T (p.Lys120Asn) c.468G>T (p.Lys156Asn) c.39G>T (p.Lys13Asn) c.513G>T (p.Lys171Asn) c.477G>T (p.Lys159Asn) n.738G>T | |
6 | g.24596179C>G | CA362971494 | KIAA0319 | c.495G>C (p.Lys165Asn) c.360G>C (p.Lys120Asn) c.468G>C (p.Lys156Asn) c.39G>C (p.Lys13Asn) c.513G>C (p.Lys171Asn) c.477G>C (p.Lys159Asn) n.738G>C | |
6 | g.24596179C>T | CA448959357 | KIAA0319 | c.495G>A (p.Lys165=) c.360G>A (p.Lys120=) c.468G>A (p.Lys156=) c.39G>A (p.Lys13=) c.513G>A (p.Lys171=) c.477G>A (p.Lys159=) n.738G>A | gnomAD v4 COSMIC |
6 | g.24596180T>A | CA362971500 | KIAA0319 | c.494A>T (p.Lys165Met) c.359A>T (p.Lys120Met) c.467A>T (p.Lys156Met) c.38A>T (p.Lys13Met) c.512A>T (p.Lys171Met) c.476A>T (p.Lys159Met) n.737A>T | |
6 | g.24596180T>C | CA362971499 | KIAA0319 | c.494A>G (p.Lys165Arg) c.359A>G (p.Lys120Arg) c.467A>G (p.Lys156Arg) c.38A>G (p.Lys13Arg) c.512A>G (p.Lys171Arg) c.476A>G (p.Lys159Arg) n.737A>G | |
6 | g.24596180T>G | CA362971497 | KIAA0319 | c.494A>C (p.Lys165Thr) c.359A>C (p.Lys120Thr) c.467A>C (p.Lys156Thr) c.38A>C (p.Lys13Thr) c.512A>C (p.Lys171Thr) c.476A>C (p.Lys159Thr) n.737A>C | |
6 | g.24596181T>A | CA362971502 | KIAA0319 | c.493A>T (p.Lys165Ter) c.358A>T (p.Lys120Ter) c.466A>T (p.Lys156Ter) c.37A>T (p.Lys13Ter) c.511A>T (p.Lys171Ter) c.475A>T (p.Lys159Ter) n.736A>T | |
6 | g.24596181T>C | CA362971504 | KIAA0319 | c.493A>G (p.Lys165Glu) c.358A>G (p.Lys120Glu) c.466A>G (p.Lys156Glu) c.37A>G (p.Lys13Glu) c.511A>G (p.Lys171Glu) c.475A>G (p.Lys159Glu) n.736A>G | |
6 | g.24596181T>G | CA362971506 | KIAA0319 | c.493A>C (p.Lys165Gln) c.358A>C (p.Lys120Gln) c.466A>C (p.Lys156Gln) c.37A>C (p.Lys13Gln) c.511A>C (p.Lys171Gln) c.475A>C (p.Lys159Gln) n.736A>C | |
6 | g.24596182C>A | CA362971507 | KIAA0319 | c.492G>T (p.Glu164Asp) c.357G>T (p.Glu119Asp) c.465G>T (p.Glu155Asp) c.36G>T (p.Glu12Asp) c.510G>T (p.Glu170Asp) c.474G>T (p.Glu158Asp) n.735G>T | |
6 | g.24596182C= | CA1616548829 | KIAA0319 | c.492G= (p.Glu164=) c.357G= (p.Glu119=) c.465G= (p.Glu155=) c.36G= (p.Glu12=) c.510G= (p.Glu170=) c.474G= (p.Glu158=) n.735G= | |
6 | g.24596182C>G | CA362971509 | KIAA0319 | c.492G>C (p.Glu164Asp) c.357G>C (p.Glu119Asp) c.465G>C (p.Glu155Asp) c.36G>C (p.Glu12Asp) c.510G>C (p.Glu170Asp) c.474G>C (p.Glu158Asp) n.735G>C | |
6 | g.24596182C>T | CA448959358 | KIAA0319 | c.492G>A (p.Glu164=) c.357G>A (p.Glu119=) c.465G>A (p.Glu155=) c.36G>A (p.Glu12=) c.510G>A (p.Glu170=) c.474G>A (p.Glu158=) n.735G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596183T>A | CA362971511 | KIAA0319 | c.491A>T (p.Glu164Val) c.356A>T (p.Glu119Val) c.464A>T (p.Glu155Val) c.35A>T (p.Glu12Val) c.509A>T (p.Glu170Val) c.473A>T (p.Glu158Val) n.734A>T | |
6 | g.24596183T>C | CA362971513 | KIAA0319 | c.491A>G (p.Glu164Gly) c.356A>G (p.Glu119Gly) c.464A>G (p.Glu155Gly) c.35A>G (p.Glu12Gly) c.509A>G (p.Glu170Gly) c.473A>G (p.Glu158Gly) n.734A>G | |
6 | g.24596183T>G | CA362971515 | KIAA0319 | c.491A>C (p.Glu164Ala) c.356A>C (p.Glu119Ala) c.464A>C (p.Glu155Ala) c.35A>C (p.Glu12Ala) c.509A>C (p.Glu170Ala) c.473A>C (p.Glu158Ala) n.734A>C | |
6 | g.24596184C>A | CA362971518 | KIAA0319 | c.490G>T (p.Glu164Ter) c.355G>T (p.Glu119Ter) c.463G>T (p.Glu155Ter) c.34G>T (p.Glu12Ter) c.508G>T (p.Glu170Ter) c.472G>T (p.Glu158Ter) n.733G>T | |
6 | g.24596184C= | CA1616548830 | KIAA0319 | c.490G= (p.Glu164=) c.355G= (p.Glu119=) c.463G= (p.Glu155=) c.34G= (p.Glu12=) c.508G= (p.Glu170=) c.472G= (p.Glu158=) n.733G= | |
6 | g.24596184C>G | CA362971520 | KIAA0319 | c.490G>C (p.Glu164Gln) c.355G>C (p.Glu119Gln) c.463G>C (p.Glu155Gln) c.34G>C (p.Glu12Gln) c.508G>C (p.Glu170Gln) c.472G>C (p.Glu158Gln) n.733G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596184C>T | CA362971521 | KIAA0319 | c.490G>A (p.Glu164Lys) c.355G>A (p.Glu119Lys) c.463G>A (p.Glu155Lys) c.34G>A (p.Glu12Lys) c.508G>A (p.Glu170Lys) c.472G>A (p.Glu158Lys) n.733G>A | |
6 | g.24596185C>A | CA448959359 | KIAA0319 | c.489G>T (p.Leu163=) c.354G>T (p.Leu118=) c.462G>T (p.Leu154=) c.33G>T (p.Leu11=) c.507G>T (p.Leu169=) c.471G>T (p.Leu157=) n.732G>T | |
6 | g.24596185C>G | CA448959360 | KIAA0319 | c.489G>C (p.Leu163=) c.354G>C (p.Leu118=) c.462G>C (p.Leu154=) c.33G>C (p.Leu11=) c.507G>C (p.Leu169=) c.471G>C (p.Leu157=) n.732G>C | |
6 | g.24596185C>T | CA448959361 | KIAA0319 | c.489G>A (p.Leu163=) c.354G>A (p.Leu118=) c.462G>A (p.Leu154=) c.33G>A (p.Leu11=) c.507G>A (p.Leu169=) c.471G>A (p.Leu157=) n.732G>A | |
6 | g.24596186A>C | CA362971526 | KIAA0319 | c.488T>G (p.Leu163Arg) c.353T>G (p.Leu118Arg) c.461T>G (p.Leu154Arg) c.32T>G (p.Leu11Arg) c.506T>G (p.Leu169Arg) c.470T>G (p.Leu157Arg) n.731T>G | |
6 | g.24596186A>G | CA362971527 | KIAA0319 | c.488T>C (p.Leu163Pro) c.353T>C (p.Leu118Pro) c.461T>C (p.Leu154Pro) c.32T>C (p.Leu11Pro) c.506T>C (p.Leu169Pro) c.470T>C (p.Leu157Pro) n.731T>C | |
6 | g.24596186A>T | CA362971524 | KIAA0319 | c.488T>A (p.Leu163Gln) c.353T>A (p.Leu118Gln) c.461T>A (p.Leu154Gln) c.32T>A (p.Leu11Gln) c.506T>A (p.Leu169Gln) c.470T>A (p.Leu157Gln) n.731T>A | |
6 | g.24596186_24596187delinsAG | CA1616548831 | KIAA0319 | c.487_488delinsCT (p.Leu163=) c.352_353delinsCT (p.Leu118=) c.460_461delinsCT (p.Leu154=) c.31_32delinsCT (p.Leu11=) c.505_506delinsCT (p.Leu169=) c.469_470delinsCT (p.Leu157=) n.730_731delinsCT | |
6 | g.24596187del | CA1616548832 | KIAA0319 | c.487del (p.Leu163TrpfsTer?) c.352del (p.Leu118TrpfsTer?) c.460del (p.Leu154TrpfsTer?) c.31del (p.Leu11TrpfsTer?) c.505del (p.Leu169TrpfsTer?) c.469del (p.Leu157TrpfsTer?) n.730del | dbSNP |
6 | g.24596187G>A | CA448959362 | KIAA0319 | c.487C>T (p.Leu163=) c.352C>T (p.Leu118=) c.460C>T (p.Leu154=) c.31C>T (p.Leu11=) c.505C>T (p.Leu169=) c.469C>T (p.Leu157=) n.730C>T | |
6 | g.24596187G>C | CA362971530 | KIAA0319 | c.487C>G (p.Leu163Val) c.352C>G (p.Leu118Val) c.460C>G (p.Leu154Val) c.31C>G (p.Leu11Val) c.505C>G (p.Leu169Val) c.469C>G (p.Leu157Val) n.730C>G | |
6 | g.24596187G>T | CA362971532 | KIAA0319 | c.487C>A (p.Leu163Met) c.352C>A (p.Leu118Met) c.460C>A (p.Leu154Met) c.31C>A (p.Leu11Met) c.505C>A (p.Leu169Met) c.469C>A (p.Leu157Met) n.730C>A | |
6 | g.24596188C>A | CA362971535 | KIAA0319 | c.486G>T (p.Glu162Asp) c.351G>T (p.Glu117Asp) c.459G>T (p.Glu153Asp) c.30G>T (p.Glu10Asp) c.504G>T (p.Glu168Asp) c.468G>T (p.Glu156Asp) n.729G>T | |
6 | g.24596188C= | CA1616548833 | KIAA0319 | c.486G= (p.Glu162=) c.351G= (p.Glu117=) c.459G= (p.Glu153=) c.30G= (p.Glu10=) c.504G= (p.Glu168=) c.468G= (p.Glu156=) n.729G= | |
6 | g.24596188C>G | CA362971537 | KIAA0319 | c.486G>C (p.Glu162Asp) c.351G>C (p.Glu117Asp) c.459G>C (p.Glu153Asp) c.30G>C (p.Glu10Asp) c.504G>C (p.Glu168Asp) c.468G>C (p.Glu156Asp) n.729G>C | |
6 | g.24596188C>T | CA448959363 | KIAA0319 | c.486G>A (p.Glu162=) c.351G>A (p.Glu117=) c.459G>A (p.Glu153=) c.30G>A (p.Glu10=) c.504G>A (p.Glu168=) c.468G>A (p.Glu156=) n.729G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596189T>A | CA362971539 | KIAA0319 | c.485A>T (p.Glu162Val) c.350A>T (p.Glu117Val) c.458A>T (p.Glu153Val) c.29A>T (p.Glu10Val) c.503A>T (p.Glu168Val) c.467A>T (p.Glu156Val) n.728A>T | |
6 | g.24596189T>C | CA362971541 | KIAA0319 | c.485A>G (p.Glu162Gly) c.350A>G (p.Glu117Gly) c.458A>G (p.Glu153Gly) c.29A>G (p.Glu10Gly) c.503A>G (p.Glu168Gly) c.467A>G (p.Glu156Gly) n.728A>G | |
6 | g.24596189T>G | CA362971543 | KIAA0319 | c.485A>C (p.Glu162Ala) c.350A>C (p.Glu117Ala) c.458A>C (p.Glu153Ala) c.29A>C (p.Glu10Ala) c.503A>C (p.Glu168Ala) c.467A>C (p.Glu156Ala) n.728A>C | |
6 | g.24596190C>A | CA362971545 | KIAA0319 | c.484G>T (p.Glu162Ter) c.349G>T (p.Glu117Ter) c.457G>T (p.Glu153Ter) c.28G>T (p.Glu10Ter) c.502G>T (p.Glu168Ter) c.466G>T (p.Glu156Ter) n.727G>T | dbSNP gnomAD v4 |
6 | g.24596190C= | CA1616548834 | KIAA0319 | c.484G= (p.Glu162=) c.349G= (p.Glu117=) c.457G= (p.Glu153=) c.28G= (p.Glu10=) c.502G= (p.Glu168=) c.466G= (p.Glu156=) n.727G= | |
6 | g.24596190C>G | CA362971547 | KIAA0319 | c.484G>C (p.Glu162Gln) c.349G>C (p.Glu117Gln) c.457G>C (p.Glu153Gln) c.28G>C (p.Glu10Gln) c.502G>C (p.Glu168Gln) c.466G>C (p.Glu156Gln) n.727G>C | |
6 | g.24596190C>T | CA3657831 | KIAA0319 | c.484G>A (p.Glu162Lys) c.349G>A (p.Glu117Lys) c.457G>A (p.Glu153Lys) c.28G>A (p.Glu10Lys) c.502G>A (p.Glu168Lys) c.466G>A (p.Glu156Lys) n.727G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596191C>A | CA448959364 | KIAA0319 | c.483G>T (p.Arg161=) c.348G>T (p.Arg116=) c.456G>T (p.Arg152=) c.27G>T (p.Arg9=) c.501G>T (p.Arg167=) c.465G>T (p.Arg155=) n.726G>T | |
6 | g.24596191C= | CA1616548835 | KIAA0319 | c.483G= (p.Arg161=) c.348G= (p.Arg116=) c.456G= (p.Arg152=) c.27G= (p.Arg9=) c.501G= (p.Arg167=) c.465G= (p.Arg155=) n.726G= | |
6 | g.24596191C>G | CA448959365 | KIAA0319 | c.483G>C (p.Arg161=) c.348G>C (p.Arg116=) c.456G>C (p.Arg152=) c.27G>C (p.Arg9=) c.501G>C (p.Arg167=) c.465G>C (p.Arg155=) n.726G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596191C>T | CA448959366 | KIAA0319 | c.483G>A (p.Arg161=) c.348G>A (p.Arg116=) c.456G>A (p.Arg152=) c.27G>A (p.Arg9=) c.501G>A (p.Arg167=) c.465G>A (p.Arg155=) n.726G>A | |
6 | g.24596192C>A | CA362971552 | KIAA0319 | c.482G>T (p.Arg161Leu) c.347G>T (p.Arg116Leu) c.455G>T (p.Arg152Leu) c.26G>T (p.Arg9Leu) c.500G>T (p.Arg167Leu) c.464G>T (p.Arg155Leu) n.725G>T | gnomAD v4 |
6 | g.24596192C= | CA1616548836 | KIAA0319 | c.482G= (p.Arg161=) c.347G= (p.Arg116=) c.455G= (p.Arg152=) c.26G= (p.Arg9=) c.500G= (p.Arg167=) c.464G= (p.Arg155=) n.725G= | |
6 | g.24596192C>G | CA362971554 | KIAA0319 | c.482G>C (p.Arg161Pro) c.347G>C (p.Arg116Pro) c.455G>C (p.Arg152Pro) c.26G>C (p.Arg9Pro) c.500G>C (p.Arg167Pro) c.464G>C (p.Arg155Pro) n.725G>C | |
6 | g.24596192C>T | CA3657832 | KIAA0319 | c.482G>A (p.Arg161Gln) c.347G>A (p.Arg116Gln) c.455G>A (p.Arg152Gln) c.26G>A (p.Arg9Gln) c.500G>A (p.Arg167Gln) c.464G>A (p.Arg155Gln) n.725G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596193G>A | CA3657833 | KIAA0319 | c.481C>T (p.Arg161Trp) c.346C>T (p.Arg116Trp) c.454C>T (p.Arg152Trp) c.25C>T (p.Arg9Trp) c.499C>T (p.Arg167Trp) c.463C>T (p.Arg155Trp) n.724C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596193G>C | CA3657834 | KIAA0319 | c.481C>G (p.Arg161Gly) c.346C>G (p.Arg116Gly) c.454C>G (p.Arg152Gly) c.25C>G (p.Arg9Gly) c.499C>G (p.Arg167Gly) c.463C>G (p.Arg155Gly) n.724C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596193G= | CA1616548837 | KIAA0319 | c.481C= (p.Arg161=) c.346C= (p.Arg116=) c.454C= (p.Arg152=) c.25C= (p.Arg9=) c.499C= (p.Arg167=) c.463C= (p.Arg155=) n.724C= | |
6 | g.24596193G>T | CA448959367 | KIAA0319 | c.481C>A (p.Arg161=) c.346C>A (p.Arg116=) c.454C>A (p.Arg152=) c.25C>A (p.Arg9=) c.499C>A (p.Arg167=) c.463C>A (p.Arg155=) n.724C>A | |
6 | g.24596194G>A | CA448959368 | KIAA0319 | c.480C>T (p.Tyr160=) c.345C>T (p.Tyr115=) c.453C>T (p.Tyr151=) c.24C>T (p.Tyr8=) c.498C>T (p.Tyr166=) c.462C>T (p.Tyr154=) n.723C>T | gnomAD v4 |
6 | g.24596194G>C | CA362971561 | KIAA0319 | c.480C>G (p.Tyr160Ter) c.345C>G (p.Tyr115Ter) c.453C>G (p.Tyr151Ter) c.24C>G (p.Tyr8Ter) c.498C>G (p.Tyr166Ter) c.462C>G (p.Tyr154Ter) n.723C>G | |
6 | g.24596194G>T | CA362971563 | KIAA0319 | c.480C>A (p.Tyr160Ter) c.345C>A (p.Tyr115Ter) c.453C>A (p.Tyr151Ter) c.24C>A (p.Tyr8Ter) c.498C>A (p.Tyr166Ter) c.462C>A (p.Tyr154Ter) n.723C>A | |
6 | g.24596195T>A | CA362971566 | KIAA0319 | c.479A>T (p.Tyr160Phe) c.344A>T (p.Tyr115Phe) c.452A>T (p.Tyr151Phe) c.23A>T (p.Tyr8Phe) c.497A>T (p.Tyr166Phe) c.461A>T (p.Tyr154Phe) n.722A>T | |
6 | g.24596195T>C | CA362971568 | KIAA0319 | c.479A>G (p.Tyr160Cys) c.344A>G (p.Tyr115Cys) c.452A>G (p.Tyr151Cys) c.23A>G (p.Tyr8Cys) c.497A>G (p.Tyr166Cys) c.461A>G (p.Tyr154Cys) n.722A>G | gnomAD v4 |
6 | g.24596195T>G | CA362971569 | KIAA0319 | c.479A>C (p.Tyr160Ser) c.344A>C (p.Tyr115Ser) c.452A>C (p.Tyr151Ser) c.23A>C (p.Tyr8Ser) c.497A>C (p.Tyr166Ser) c.461A>C (p.Tyr154Ser) n.722A>C | |
6 | g.24596196A>C | CA362971571 | KIAA0319 | c.478T>G (p.Tyr160Asp) c.343T>G (p.Tyr115Asp) c.451T>G (p.Tyr151Asp) c.22T>G (p.Tyr8Asp) c.496T>G (p.Tyr166Asp) c.460T>G (p.Tyr154Asp) n.721T>G | |
6 | g.24596196A>G | CA362971573 | KIAA0319 | c.478T>C (p.Tyr160His) c.343T>C (p.Tyr115His) c.451T>C (p.Tyr151His) c.22T>C (p.Tyr8His) c.496T>C (p.Tyr166His) c.460T>C (p.Tyr154His) n.721T>C | |
6 | g.24596196A>T | CA362971575 | KIAA0319 | c.478T>A (p.Tyr160Asn) c.343T>A (p.Tyr115Asn) c.451T>A (p.Tyr151Asn) c.22T>A (p.Tyr8Asn) c.496T>A (p.Tyr166Asn) c.460T>A (p.Tyr154Asn) n.721T>A | |
6 | g.24596197G>A | CA448959369 | KIAA0319 | c.477C>T (p.Asp159=) c.342C>T (p.Asp114=) c.450C>T (p.Asp150=) c.21C>T (p.Asp7=) c.495C>T (p.Asp165=) c.459C>T (p.Asp153=) n.720C>T | |
6 | g.24596197G>C | CA362971577 | KIAA0319 | c.477C>G (p.Asp159Glu) c.342C>G (p.Asp114Glu) c.450C>G (p.Asp150Glu) c.21C>G (p.Asp7Glu) c.495C>G (p.Asp165Glu) c.459C>G (p.Asp153Glu) n.720C>G | gnomAD v4 |
6 | g.24596197G>T | CA362971580 | KIAA0319 | c.477C>A (p.Asp159Glu) c.342C>A (p.Asp114Glu) c.450C>A (p.Asp150Glu) c.21C>A (p.Asp7Glu) c.495C>A (p.Asp165Glu) c.459C>A (p.Asp153Glu) n.720C>A | |
6 | g.24596198T>A | CA362971582 | KIAA0319 | c.476A>T (p.Asp159Val) c.341A>T (p.Asp114Val) c.449A>T (p.Asp150Val) c.20A>T (p.Asp7Val) c.494A>T (p.Asp165Val) c.458A>T (p.Asp153Val) n.719A>T | |
6 | g.24596198T>C | CA362971583 | KIAA0319 | c.476A>G (p.Asp159Gly) c.341A>G (p.Asp114Gly) c.449A>G (p.Asp150Gly) c.20A>G (p.Asp7Gly) c.494A>G (p.Asp165Gly) c.458A>G (p.Asp153Gly) n.719A>G | |
6 | g.24596198T>G | CA362971584 | KIAA0319 | c.476A>C (p.Asp159Ala) c.341A>C (p.Asp114Ala) c.449A>C (p.Asp150Ala) c.20A>C (p.Asp7Ala) c.494A>C (p.Asp165Ala) c.458A>C (p.Asp153Ala) n.719A>C | |
6 | g.24596199C>A | CA362971587 | KIAA0319 | c.475G>T (p.Asp159Tyr) c.340G>T (p.Asp114Tyr) c.448G>T (p.Asp150Tyr) c.19G>T (p.Asp7Tyr) c.493G>T (p.Asp165Tyr) c.457G>T (p.Asp153Tyr) n.718G>T | |
6 | g.24596199C>G | CA362971586 | KIAA0319 | c.475G>C (p.Asp159His) c.340G>C (p.Asp114His) c.448G>C (p.Asp150His) c.19G>C (p.Asp7His) c.493G>C (p.Asp165His) c.457G>C (p.Asp153His) n.718G>C | |
6 | g.24596199C>T | CA362971585 | KIAA0319 | c.475G>A (p.Asp159Asn) c.340G>A (p.Asp114Asn) c.448G>A (p.Asp150Asn) c.19G>A (p.Asp7Asn) c.493G>A (p.Asp165Asn) c.457G>A (p.Asp153Asn) n.718G>A | |
6 | g.24596200A>C | CA362971588 | KIAA0319 | c.474T>G (p.Asp158Glu) c.339T>G (p.Asp113Glu) c.447T>G (p.Asp149Glu) c.18T>G (p.Asp6Glu) c.492T>G (p.Asp164Glu) c.456T>G (p.Asp152Glu) n.717T>G | |
6 | g.24596200A>G | CA448959370 | KIAA0319 | c.474T>C (p.Asp158=) c.339T>C (p.Asp113=) c.447T>C (p.Asp149=) c.18T>C (p.Asp6=) c.492T>C (p.Asp164=) c.456T>C (p.Asp152=) n.717T>C | gnomAD v4 |
6 | g.24596200A>T | CA362971589 | KIAA0319 | c.474T>A (p.Asp158Glu) c.339T>A (p.Asp113Glu) c.447T>A (p.Asp149Glu) c.18T>A (p.Asp6Glu) c.492T>A (p.Asp164Glu) c.456T>A (p.Asp152Glu) n.717T>A | |
6 | g.24596201T>A | CA362971590 | KIAA0319 | c.473A>T (p.Asp158Val) c.338A>T (p.Asp113Val) c.446A>T (p.Asp149Val) c.17A>T (p.Asp6Val) c.491A>T (p.Asp164Val) c.455A>T (p.Asp152Val) n.716A>T | |
6 | g.24596201T>C | CA362971591 | KIAA0319 | c.473A>G (p.Asp158Gly) c.338A>G (p.Asp113Gly) c.446A>G (p.Asp149Gly) c.17A>G (p.Asp6Gly) c.491A>G (p.Asp164Gly) c.455A>G (p.Asp152Gly) n.716A>G | gnomAD v4 |
6 | g.24596201T>G | CA362971592 | KIAA0319 | c.473A>C (p.Asp158Ala) c.338A>C (p.Asp113Ala) c.446A>C (p.Asp149Ala) c.17A>C (p.Asp6Ala) c.491A>C (p.Asp164Ala) c.455A>C (p.Asp152Ala) n.716A>C | |
6 | g.24596202C>A | CA362971594 | KIAA0319 | c.472G>T (p.Asp158Tyr) c.337G>T (p.Asp113Tyr) c.445G>T (p.Asp149Tyr) c.16G>T (p.Asp6Tyr) c.490G>T (p.Asp164Tyr) c.454G>T (p.Asp152Tyr) n.715G>T | |
6 | g.24596202C= | CA1616548838 | KIAA0319 | c.472G= (p.Asp158=) c.337G= (p.Asp113=) c.445G= (p.Asp149=) c.16G= (p.Asp6=) c.490G= (p.Asp164=) c.454G= (p.Asp152=) n.715G= | |
6 | g.24596202C>G | CA362971596 | KIAA0319 | c.472G>C (p.Asp158His) c.337G>C (p.Asp113His) c.445G>C (p.Asp149His) c.16G>C (p.Asp6His) c.490G>C (p.Asp164His) c.454G>C (p.Asp152His) n.715G>C | |
6 | g.24596202C>T | CA362971598 | KIAA0319 | c.472G>A (p.Asp158Asn) c.337G>A (p.Asp113Asn) c.445G>A (p.Asp149Asn) c.16G>A (p.Asp6Asn) c.490G>A (p.Asp164Asn) c.454G>A (p.Asp152Asn) n.715G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.24596203T>A | CA448959373 | KIAA0319 | c.471A>T (p.Ser157=) c.336A>T (p.Ser112=) c.444A>T (p.Ser148=) c.15A>T (p.Ser5=) c.489A>T (p.Ser163=) c.453A>T (p.Ser151=) n.714A>T | |
6 | g.24596203T>C | CA448959371 | KIAA0319 | c.471A>G (p.Ser157=) c.336A>G (p.Ser112=) c.444A>G (p.Ser148=) c.15A>G (p.Ser5=) c.489A>G (p.Ser163=) c.453A>G (p.Ser151=) n.714A>G | |
6 | g.24596203T>G | CA448959372 | KIAA0319 | c.471A>C (p.Ser157=) c.336A>C (p.Ser112=) c.444A>C (p.Ser148=) c.15A>C (p.Ser5=) c.489A>C (p.Ser163=) c.453A>C (p.Ser151=) n.714A>C | |
6 | g.24596204G>A | CA362971599 | KIAA0319 | c.470C>T (p.Ser157Leu) c.335C>T (p.Ser112Leu) c.443C>T (p.Ser148Leu) c.14C>T (p.Ser5Leu) c.488C>T (p.Ser163Leu) c.452C>T (p.Ser151Leu) n.713C>T | gnomAD v4 |
6 | g.24596204G>C | CA362971601 | KIAA0319 | c.470C>G (p.Ser157Ter) c.335C>G (p.Ser112Ter) c.443C>G (p.Ser148Ter) c.14C>G (p.Ser5Ter) c.488C>G (p.Ser163Ter) c.452C>G (p.Ser151Ter) n.713C>G | |
6 | g.24596204G= | CA1616548839 | KIAA0319 | c.470C= (p.Ser157=) c.335C= (p.Ser112=) c.443C= (p.Ser148=) c.14C= (p.Ser5=) c.488C= (p.Ser163=) c.452C= (p.Ser151=) n.713C= | |
6 | g.24596204G>T | CA362971603 | KIAA0319 | c.470C>A (p.Ser157Ter) c.335C>A (p.Ser112Ter) c.443C>A (p.Ser148Ter) c.14C>A (p.Ser5Ter) c.488C>A (p.Ser163Ter) c.452C>A (p.Ser151Ter) n.713C>A | dbSNP gnomAD v4 |
6 | g.24596205A= | CA1616548840 | KIAA0319 | c.469T= (p.Ser157=) c.334T= (p.Ser112=) c.442T= (p.Ser148=) c.13T= (p.Ser5=) c.487T= (p.Ser163=) c.451T= (p.Ser151=) n.712T= | |
6 | g.24596205A>C | CA3657835 | KIAA0319 | c.469T>G (p.Ser157Ala) c.334T>G (p.Ser112Ala) c.442T>G (p.Ser148Ala) c.13T>G (p.Ser5Ala) c.487T>G (p.Ser163Ala) c.451T>G (p.Ser151Ala) n.712T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596205A>G | CA362971607 | KIAA0319 | c.469T>C (p.Ser157Pro) c.334T>C (p.Ser112Pro) c.442T>C (p.Ser148Pro) c.13T>C (p.Ser5Pro) c.487T>C (p.Ser163Pro) c.451T>C (p.Ser151Pro) n.712T>C | |
6 | g.24596205A>T | CA362971609 | KIAA0319 | c.469T>A (p.Ser157Thr) c.334T>A (p.Ser112Thr) c.442T>A (p.Ser148Thr) c.13T>A (p.Ser5Thr) c.487T>A (p.Ser163Thr) c.451T>A (p.Ser151Thr) n.712T>A | dbSNP |
6 | g.24596206G>A | CA448959374 | KIAA0319 | c.468C>T (p.Tyr156=) c.333C>T (p.Tyr111=) c.441C>T (p.Tyr147=) c.12C>T (p.Tyr4=) c.486C>T (p.Tyr162=) c.450C>T (p.Tyr150=) n.711C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596206G>C | CA362971612 | KIAA0319 | c.468C>G (p.Tyr156Ter) c.333C>G (p.Tyr111Ter) c.441C>G (p.Tyr147Ter) c.12C>G (p.Tyr4Ter) c.486C>G (p.Tyr162Ter) c.450C>G (p.Tyr150Ter) n.711C>G | |
6 | g.24596206G= | CA1616548841 | KIAA0319 | c.468C= (p.Tyr156=) c.333C= (p.Tyr111=) c.441C= (p.Tyr147=) c.12C= (p.Tyr4=) c.486C= (p.Tyr162=) c.450C= (p.Tyr150=) n.711C= | |
6 | g.24596206G>T | CA362971611 | KIAA0319 | c.468C>A (p.Tyr156Ter) c.333C>A (p.Tyr111Ter) c.441C>A (p.Tyr147Ter) c.12C>A (p.Tyr4Ter) c.486C>A (p.Tyr162Ter) c.450C>A (p.Tyr150Ter) n.711C>A | |
6 | g.24596207T>A | CA362971614 | KIAA0319 | c.467A>T (p.Tyr156Phe) c.332A>T (p.Tyr111Phe) c.440A>T (p.Tyr147Phe) c.11A>T (p.Tyr4Phe) c.485A>T (p.Tyr162Phe) c.449A>T (p.Tyr150Phe) n.710A>T | gnomAD v4 |
6 | g.24596207T>C | CA362971616 | KIAA0319 | c.467A>G (p.Tyr156Cys) c.332A>G (p.Tyr111Cys) c.440A>G (p.Tyr147Cys) c.11A>G (p.Tyr4Cys) c.485A>G (p.Tyr162Cys) c.449A>G (p.Tyr150Cys) n.710A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596207T>G | CA362971618 | KIAA0319 | c.467A>C (p.Tyr156Ser) c.332A>C (p.Tyr111Ser) c.440A>C (p.Tyr147Ser) c.11A>C (p.Tyr4Ser) c.485A>C (p.Tyr162Ser) c.449A>C (p.Tyr150Ser) n.710A>C | |
6 | g.24596207T= | CA1616548842 | KIAA0319 | c.467A= (p.Tyr156=) c.332A= (p.Tyr111=) c.440A= (p.Tyr147=) c.11A= (p.Tyr4=) c.485A= (p.Tyr162=) c.449A= (p.Tyr150=) n.710A= | |
6 | g.24596208A>C | CA362971620 | KIAA0319 | c.466T>G (p.Tyr156Asp) c.331T>G (p.Tyr111Asp) c.439T>G (p.Tyr147Asp) c.10T>G (p.Tyr4Asp) c.484T>G (p.Tyr162Asp) c.448T>G (p.Tyr150Asp) n.709T>G | |
6 | g.24596208A>G | CA362971622 | KIAA0319 | c.466T>C (p.Tyr156His) c.331T>C (p.Tyr111His) c.439T>C (p.Tyr147His) c.10T>C (p.Tyr4His) c.484T>C (p.Tyr162His) c.448T>C (p.Tyr150His) n.709T>C | |
6 | g.24596208A>T | CA362971624 | KIAA0319 | c.466T>A (p.Tyr156Asn) c.331T>A (p.Tyr111Asn) c.439T>A (p.Tyr147Asn) c.10T>A (p.Tyr4Asn) c.484T>A (p.Tyr162Asn) c.448T>A (p.Tyr150Asn) n.709T>A | |
6 | g.24596209C>A | CA362971628 | KIAA0319 | c.465G>T (p.Glu155Asp) c.330G>T (p.Glu110Asp) c.438G>T (p.Glu146Asp) c.9G>T (p.Glu3Asp) c.483G>T (p.Glu161Asp) c.447G>T (p.Glu149Asp) n.708G>T | |
6 | g.24596209C= | CA1616548843 | KIAA0319 | c.465G= (p.Glu155=) c.330G= (p.Glu110=) c.438G= (p.Glu146=) c.9G= (p.Glu3=) c.483G= (p.Glu161=) c.447G= (p.Glu149=) n.708G= | |
6 | g.24596209C>G | CA3657836 | KIAA0319 | c.465G>C (p.Glu155Asp) c.330G>C (p.Glu110Asp) c.438G>C (p.Glu146Asp) c.9G>C (p.Glu3Asp) c.483G>C (p.Glu161Asp) c.447G>C (p.Glu149Asp) n.708G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596209C>T | CA448959375 | KIAA0319 | c.465G>A (p.Glu155=) c.330G>A (p.Glu110=) c.438G>A (p.Glu146=) c.9G>A (p.Glu3=) c.483G>A (p.Glu161=) c.447G>A (p.Glu149=) n.708G>A | dbSNP |
6 | g.24596210T>A | CA362971630 | KIAA0319 | c.464A>T (p.Glu155Val) c.329A>T (p.Glu110Val) c.437A>T (p.Glu146Val) c.8A>T (p.Glu3Val) c.482A>T (p.Glu161Val) c.446A>T (p.Glu149Val) n.707A>T | dbSNP gnomAD v4 |
6 | g.24596210T>C | CA362971632 | KIAA0319 | c.464A>G (p.Glu155Gly) c.329A>G (p.Glu110Gly) c.437A>G (p.Glu146Gly) c.8A>G (p.Glu3Gly) c.482A>G (p.Glu161Gly) c.446A>G (p.Glu149Gly) n.707A>G | |
6 | g.24596210T>G | CA362971634 | KIAA0319 | c.464A>C (p.Glu155Ala) c.329A>C (p.Glu110Ala) c.437A>C (p.Glu146Ala) c.8A>C (p.Glu3Ala) c.482A>C (p.Glu161Ala) c.446A>C (p.Glu149Ala) n.707A>C | |
6 | g.24596210_24596212delinsTCA | CA1616548845 | KIAA0319 | c.462_464delinsTGA (p.Ser154=) c.327_329delinsTGA (p.Ser109=) c.435_437delinsTGA (p.Ser145=) c.6_8delinsTGA (p.Ser2=) c.480_482delinsTGA (p.Ser160=) c.444_446delinsTGA (p.Ser148=) n.705_707delinsTGA | |
6 | g.24596211C>A | CA362971637 | KIAA0319 | c.463G>T (p.Glu155Ter) c.328G>T (p.Glu110Ter) c.436G>T (p.Glu146Ter) c.7G>T (p.Glu3Ter) c.481G>T (p.Glu161Ter) c.445G>T (p.Glu149Ter) n.706G>T | |
6 | g.24596211C>G | CA362971639 | KIAA0319 | c.463G>C (p.Glu155Gln) c.328G>C (p.Glu110Gln) c.436G>C (p.Glu146Gln) c.7G>C (p.Glu3Gln) c.481G>C (p.Glu161Gln) c.445G>C (p.Glu149Gln) n.706G>C | |
6 | g.24596211C>T | CA362971640 | KIAA0319 | c.463G>A (p.Glu155Lys) c.328G>A (p.Glu110Lys) c.436G>A (p.Glu146Lys) c.7G>A (p.Glu3Lys) c.481G>A (p.Glu161Lys) c.445G>A (p.Glu149Lys) n.706G>A | |
6 | g.24596211_24596212del | CA1616548846 | KIAA0319 | c.462_463del (p.Glu155ValfsTer4) c.327_328del (p.Glu110ValfsTer4) c.435_436del (p.Glu146ValfsTer4) c.6_7del (p.Glu3ValfsTer4) c.480_481del (p.Glu161ValfsTer4) c.444_445del (p.Glu149ValfsTer4) n.705_706del | dbSNP |
6 | g.24596212A>C | CA448959376 | KIAA0319 | c.462T>G (p.Ser154=) c.327T>G (p.Ser109=) c.435T>G (p.Ser145=) c.6T>G (p.Ser2=) c.480T>G (p.Ser160=) c.444T>G (p.Ser148=) n.705T>G | |
6 | g.24596212A>G | CA448959377 | KIAA0319 | c.462T>C (p.Ser154=) c.327T>C (p.Ser109=) c.435T>C (p.Ser145=) c.6T>C (p.Ser2=) c.480T>C (p.Ser160=) c.444T>C (p.Ser148=) n.705T>C | |
6 | g.24596212A>T | CA448959378 | KIAA0319 | c.462T>A (p.Ser154=) c.327T>A (p.Ser109=) c.435T>A (p.Ser145=) c.6T>A (p.Ser2=) c.480T>A (p.Ser160=) c.444T>A (p.Ser148=) n.705T>A | |
6 | g.24596213G>A | CA362971641 | KIAA0319 | c.461C>T (p.Ser154Phe) c.326C>T (p.Ser109Phe) c.434C>T (p.Ser145Phe) c.5C>T (p.Ser2Phe) c.479C>T (p.Ser160Phe) c.443C>T (p.Ser148Phe) n.704C>T | |
6 | g.24596213G>C | CA362971643 | KIAA0319 | c.461C>G (p.Ser154Cys) c.326C>G (p.Ser109Cys) c.434C>G (p.Ser145Cys) c.5C>G (p.Ser2Cys) c.479C>G (p.Ser160Cys) c.443C>G (p.Ser148Cys) n.704C>G | |
6 | g.24596213G>T | CA362971642 | KIAA0319 | c.461C>A (p.Ser154Tyr) c.326C>A (p.Ser109Tyr) c.434C>A (p.Ser145Tyr) c.5C>A (p.Ser2Tyr) c.479C>A (p.Ser160Tyr) c.443C>A (p.Ser148Tyr) n.704C>A | |
6 | g.24596214A>C | CA362971645 | KIAA0319 | c.460T>G (p.Ser154Ala) c.325T>G (p.Ser109Ala) c.433T>G (p.Ser145Ala) c.4T>G (p.Ser2Ala) c.478T>G (p.Ser160Ala) c.442T>G (p.Ser148Ala) n.703T>G | |
6 | g.24596214A>G | CA362971646 | KIAA0319 | c.460T>C (p.Ser154Pro) c.325T>C (p.Ser109Pro) c.433T>C (p.Ser145Pro) c.4T>C (p.Ser2Pro) c.478T>C (p.Ser160Pro) c.442T>C (p.Ser148Pro) n.703T>C | |
6 | g.24596214A>T | CA362971648 | KIAA0319 | c.460T>A (p.Ser154Thr) c.325T>A (p.Ser109Thr) c.433T>A (p.Ser145Thr) c.4T>A (p.Ser2Thr) c.478T>A (p.Ser160Thr) c.442T>A (p.Ser148Thr) n.703T>A | |
6 | g.24596215C>A | CA362971649 | KIAA0319 | c.459G>T (p.Met153Ile) c.324G>T (p.Met108Ile) c.432G>T (p.Met144Ile) c.3G>T (p.Met1Ile) c.477G>T (p.Met159Ile) c.441G>T (p.Met147Ile) n.702G>T | |
6 | g.24596215C= | CA1616548850 | KIAA0319 | c.459G= (p.Met153=) c.324G= (p.Met108=) c.432G= (p.Met144=) c.3G= (p.Met1=) c.477G= (p.Met159=) c.441G= (p.Met147=) n.702G= | |
6 | g.24596215C>G | CA362971650 | KIAA0319 | c.459G>C (p.Met153Ile) c.324G>C (p.Met108Ile) c.432G>C (p.Met144Ile) c.3G>C (p.Met1Ile) c.477G>C (p.Met159Ile) c.441G>C (p.Met147Ile) n.702G>C | |
6 | g.24596215C>T | CA362971651 | KIAA0319 | c.459G>A (p.Met153Ile) c.324G>A (p.Met108Ile) c.432G>A (p.Met144Ile) c.3G>A (p.Met1Ile) c.477G>A (p.Met159Ile) c.441G>A (p.Met147Ile) n.702G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596216A= | CA1616548853 | KIAA0319 | c.458T= (p.Met153=) c.323T= (p.Met108=) c.431T= (p.Met144=) c.2T= (p.Met1=) c.476T= (p.Met159=) c.440T= (p.Met147=) n.701T= | |
6 | g.24596216A>C | CA362971652 | KIAA0319 | c.458T>G (p.Met153Arg) c.323T>G (p.Met108Arg) c.431T>G (p.Met144Arg) c.2T>G (p.Met1Arg) c.476T>G (p.Met159Arg) c.440T>G (p.Met147Arg) n.701T>G | |
6 | g.24596216A>G | CA362971654 | KIAA0319 | c.458T>C (p.Met153Thr) c.323T>C (p.Met108Thr) c.431T>C (p.Met144Thr) c.2T>C (p.Met1Thr) c.476T>C (p.Met159Thr) c.440T>C (p.Met147Thr) n.701T>C | gnomAD v4 |
6 | g.24596216A>T | CA362971656 | KIAA0319 | c.458T>A (p.Met153Lys) c.323T>A (p.Met108Lys) c.431T>A (p.Met144Lys) c.2T>A (p.Met1Lys) c.476T>A (p.Met159Lys) c.440T>A (p.Met147Lys) n.701T>A | dbSNP gnomAD v4 |
6 | g.24596217T>A | CA362971658 | KIAA0319 | c.457A>T (p.Met153Leu) c.322A>T (p.Met108Leu) c.430A>T (p.Met144Leu) c.1A>T (p.Met1Leu) c.475A>T (p.Met159Leu) c.439A>T (p.Met147Leu) n.700A>T | |
6 | g.24596217T>C | CA362971659 | KIAA0319 | c.457A>G (p.Met153Val) c.322A>G (p.Met108Val) c.430A>G (p.Met144Val) c.1A>G (p.Met1Val) c.475A>G (p.Met159Val) c.439A>G (p.Met147Val) n.700A>G | gnomAD v4 |
6 | g.24596217T>G | CA362971662 | KIAA0319 | c.457A>C (p.Met153Leu) c.322A>C (p.Met108Leu) c.430A>C (p.Met144Leu) c.1A>C (p.Met1Leu) c.475A>C (p.Met159Leu) c.439A>C (p.Met147Leu) n.700A>C | |
6 | g.24596217dup | CA2842204255 | KIAA0319 | c.457dup (p.Met153AsnfsTer3) c.322dup (p.Met108AsnfsTer3) c.430dup (p.Met144AsnfsTer3) c.1dup (p.Met1AsnfsTer3) c.475dup (p.Met159AsnfsTer3) c.439dup (p.Met147AsnfsTer3) n.700dup | |
6 | g.24596217_24596220delinsTCTC | CA1616548856 | KIAA0319 | c.454_457delinsGAGA (p.Glu152=) c.319_322delinsGAGA (p.Glu107=) c.427_430delinsGAGA (p.Glu143=) c.-3_1delinsGAGA c.472_475delinsGAGA (p.Glu158=) c.436_439delinsGAGA (p.Glu146=) n.697_700delinsGAGA | |
6 | g.24596218C>A | CA362971672 | KIAA0319 | c.456G>T (p.Glu152Asp) c.321G>T (p.Glu107Asp) c.429G>T (p.Glu143Asp) c.-1G>T (n.-1G>T) c.474G>T (p.Glu158Asp) c.438G>T (p.Glu146Asp) n.699G>T | |
6 | g.24596218C>G | CA362971667 | KIAA0319 | c.456G>C (p.Glu152Asp) c.321G>C (p.Glu107Asp) c.429G>C (p.Glu143Asp) c.-1G>C (n.-1G>C) c.474G>C (p.Glu158Asp) c.438G>C (p.Glu146Asp) n.699G>C | COSMIC |
6 | g.24596218C>T | CA448959379 | KIAA0319 | c.456G>A (p.Glu152=) c.321G>A (p.Glu107=) c.429G>A (p.Glu143=) c.-1G>A (n.-1G>A) c.474G>A (p.Glu158=) c.438G>A (p.Glu146=) n.699G>A | |
6 | g.24596221_24596223del | CA3657837 | KIAA0319 | c.454_456del (p.Glu152del) c.319_321del (p.Glu107del) c.427_429del (p.Glu143del) c.-3_-1del (n.-3_-1del) c.472_474del (p.Glu158del) c.436_438del (p.Glu146del) n.697_699del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596219T>A | CA362971674 | KIAA0319 | c.455A>T (p.Glu152Val) c.320A>T (p.Glu107Val) c.428A>T (p.Glu143Val) c.-2A>T (n.-2A>T) c.473A>T (p.Glu158Val) c.437A>T (p.Glu146Val) n.698A>T | |
6 | g.24596219T>C | CA362971677 | KIAA0319 | c.455A>G (p.Glu152Gly) c.320A>G (p.Glu107Gly) c.428A>G (p.Glu143Gly) c.-2A>G (n.-2A>G) c.473A>G (p.Glu158Gly) c.437A>G (p.Glu146Gly) n.698A>G | |
6 | g.24596219T>G | CA362971680 | KIAA0319 | c.455A>C (p.Glu152Ala) c.320A>C (p.Glu107Ala) c.428A>C (p.Glu143Ala) c.-2A>C (n.-2A>C) c.473A>C (p.Glu158Ala) c.437A>C (p.Glu146Ala) n.698A>C | |
6 | g.24596220C>A | CA362971687 | KIAA0319 | c.454G>T (p.Glu152Ter) c.319G>T (p.Glu107Ter) c.427G>T (p.Glu143Ter) c.-3G>T (n.-3G>T) c.472G>T (p.Glu158Ter) c.436G>T (p.Glu146Ter) n.697G>T | COSMIC |
6 | g.24596220C>G | CA362971689 | KIAA0319 | c.454G>C (p.Glu152Gln) c.319G>C (p.Glu107Gln) c.427G>C (p.Glu143Gln) c.-3G>C (n.-3G>C) c.472G>C (p.Glu158Gln) c.436G>C (p.Glu146Gln) n.697G>C | |
6 | g.24596220C>T | CA362971691 | KIAA0319 | c.454G>A (p.Glu152Lys) c.319G>A (p.Glu107Lys) c.427G>A (p.Glu143Lys) c.-3G>A (n.-3G>A) c.472G>A (p.Glu158Lys) c.436G>A (p.Glu146Lys) n.697G>A | COSMIC |
6 | g.24596221C>A | CA362971693 | KIAA0319 | c.453G>T (p.Glu151Asp) c.318G>T (p.Glu106Asp) c.426G>T (p.Glu142Asp) c.-4G>T (n.-4G>T) c.471G>T (p.Glu157Asp) c.435G>T (p.Glu145Asp) n.696G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596221C= | CA1616548865 | KIAA0319 | c.453G= (p.Glu151=) c.318G= (p.Glu106=) c.426G= (p.Glu142=) c.-4G= (n.-4G=) c.471G= (p.Glu157=) c.435G= (p.Glu145=) n.696G= | |
6 | g.24596221C>G | CA362971695 | KIAA0319 | c.453G>C (p.Glu151Asp) c.318G>C (p.Glu106Asp) c.426G>C (p.Glu142Asp) c.-4G>C (n.-4G>C) c.471G>C (p.Glu157Asp) c.435G>C (p.Glu145Asp) n.696G>C | |
6 | g.24596221C>T | CA136131462 | KIAA0319 | c.453G>A (p.Glu151=) c.318G>A (p.Glu106=) c.426G>A (p.Glu142=) c.-4G>A (n.-4G>A) c.471G>A (p.Glu157=) c.435G>A (p.Glu145=) n.696G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24596222T>A | CA362971696 | KIAA0319 | c.452A>T (p.Glu151Val) c.317A>T (p.Glu106Val) c.425A>T (p.Glu142Val) c.-5A>T (n.-5A>T) c.470A>T (p.Glu157Val) c.434A>T (p.Glu145Val) n.695A>T | |
6 | g.24596222T>C | CA362971700 | KIAA0319 | c.452A>G (p.Glu151Gly) c.317A>G (p.Glu106Gly) c.425A>G (p.Glu142Gly) c.-5A>G (n.-5A>G) c.470A>G (p.Glu157Gly) c.434A>G (p.Glu145Gly) n.695A>G | |
6 | g.24596222T>G | CA362971707 | KIAA0319 | c.452A>C (p.Glu151Ala) c.317A>C (p.Glu106Ala) c.425A>C (p.Glu142Ala) c.-5A>C (n.-5A>C) c.470A>C (p.Glu157Ala) c.434A>C (p.Glu145Ala) n.695A>C | |
6 | g.24596223C>A | CA3657838 | KIAA0319 | c.451G>T (p.Glu151Ter) c.316G>T (p.Glu106Ter) c.424G>T (p.Glu142Ter) c.-6G>T (n.-6G>T) c.469G>T (p.Glu157Ter) c.433G>T (p.Glu145Ter) n.694G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596223C= | CA1616548872 | KIAA0319 | c.451G= (p.Glu151=) c.316G= (p.Glu106=) c.424G= (p.Glu142=) c.-6G= (n.-6G=) c.469G= (p.Glu157=) c.433G= (p.Glu145=) n.694G= | |
6 | g.24596223C>G | CA362971718 | KIAA0319 | c.451G>C (p.Glu151Gln) c.316G>C (p.Glu106Gln) c.424G>C (p.Glu142Gln) c.-6G>C (n.-6G>C) c.469G>C (p.Glu157Gln) c.433G>C (p.Glu145Gln) n.694G>C | |
6 | g.24596223C>T | CA3657839 | KIAA0319 | c.451G>A (p.Glu151Lys) c.316G>A (p.Glu106Lys) c.424G>A (p.Glu142Lys) c.-6G>A (n.-6G>A) c.469G>A (p.Glu157Lys) c.433G>A (p.Glu145Lys) n.694G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596224T>A | CA448959380 | KIAA0319 | c.450A>T (p.Leu150=) c.315A>T (p.Leu105=) c.423A>T (p.Leu141=) c.-7A>T (n.-7A>T) c.468A>T (p.Leu156=) c.432A>T (p.Leu144=) n.693A>T | |
6 | g.24596224T>C | CA448959381 | KIAA0319 | c.450A>G (p.Leu150=) c.315A>G (p.Leu105=) c.423A>G (p.Leu141=) c.-7A>G (n.-7A>G) c.468A>G (p.Leu156=) c.432A>G (p.Leu144=) n.693A>G | |
6 | g.24596224T>G | CA448959382 | KIAA0319 | c.450A>C (p.Leu150=) c.315A>C (p.Leu105=) c.423A>C (p.Leu141=) c.-7A>C (n.-7A>C) c.468A>C (p.Leu156=) c.432A>C (p.Leu144=) n.693A>C | |
6 | g.24596225A>C | CA362971721 | KIAA0319 | c.449T>G (p.Leu150Arg) c.314T>G (p.Leu105Arg) c.422T>G (p.Leu141Arg) c.-8T>G (n.-8T>G) c.467T>G (p.Leu156Arg) c.431T>G (p.Leu144Arg) n.692T>G | |
6 | g.24596225A>G | CA362971728 | KIAA0319 | c.449T>C (p.Leu150Pro) c.314T>C (p.Leu105Pro) c.422T>C (p.Leu141Pro) c.-8T>C (n.-8T>C) c.467T>C (p.Leu156Pro) c.431T>C (p.Leu144Pro) n.692T>C | COSMIC |
6 | g.24596225A>T | CA362971724 | KIAA0319 | c.449T>A (p.Leu150Gln) c.314T>A (p.Leu105Gln) c.422T>A (p.Leu141Gln) c.-8T>A (n.-8T>A) c.467T>A (p.Leu156Gln) c.431T>A (p.Leu144Gln) n.692T>A | |
6 | g.24596226G>A | CA448959383 | KIAA0319 | c.448C>T (p.Leu150=) c.313C>T (p.Leu105=) c.421C>T (p.Leu141=) c.-9C>T (n.-9C>T) c.466C>T (p.Leu156=) c.430C>T (p.Leu144=) n.691C>T | |
6 | g.24596226G>C | CA362971736 | KIAA0319 | c.448C>G (p.Leu150Val) c.313C>G (p.Leu105Val) c.421C>G (p.Leu141Val) c.-9C>G (n.-9C>G) c.466C>G (p.Leu156Val) c.430C>G (p.Leu144Val) n.691C>G | gnomAD v4 |
6 | g.24596226G>T | CA362971738 | KIAA0319 | c.448C>A (p.Leu150Ile) c.313C>A (p.Leu105Ile) c.421C>A (p.Leu141Ile) c.-9C>A (n.-9C>A) c.466C>A (p.Leu156Ile) c.430C>A (p.Leu144Ile) n.691C>A | |
6 | g.24596227G>A | CA3657840 | KIAA0319 | c.447C>T (p.Gly149=) c.312C>T (p.Gly104=) c.420C>T (p.Gly140=) c.-10C>T (n.-10C>T) c.465C>T (p.Gly155=) c.429C>T (p.Gly143=) n.690C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596227G>C | CA448959384 | KIAA0319 | c.447C>G (p.Gly149=) c.312C>G (p.Gly104=) c.420C>G (p.Gly140=) c.-10C>G (n.-10C>G) c.465C>G (p.Gly155=) c.429C>G (p.Gly143=) n.690C>G | |
6 | g.24596227G= | CA1616548875 | KIAA0319 | c.447C= (p.Gly149=) c.312C= (p.Gly104=) c.420C= (p.Gly140=) c.-10C= (n.-10C=) c.465C= (p.Gly155=) c.429C= (p.Gly143=) n.690C= | |
6 | g.24596227G>T | CA448959385 | KIAA0319 | c.447C>A (p.Gly149=) c.312C>A (p.Gly104=) c.420C>A (p.Gly140=) c.-10C>A (n.-10C>A) c.465C>A (p.Gly155=) c.429C>A (p.Gly143=) n.690C>A | |
6 | g.24596228C>A | CA362971749 | KIAA0319 | c.446G>T (p.Gly149Val) c.311G>T (p.Gly104Val) c.419G>T (p.Gly140Val) c.-11G>T (n.-11G>T) c.464G>T (p.Gly155Val) c.428G>T (p.Gly143Val) n.689G>T | gnomAD v4 |
6 | g.24596228C= | CA1616548877 | KIAA0319 | c.446G= (p.Gly149=) c.311G= (p.Gly104=) c.419G= (p.Gly140=) c.-11G= (n.-11G=) c.464G= (p.Gly155=) c.428G= (p.Gly143=) n.689G= | |
6 | g.24596228C>G | CA362971742 | KIAA0319 | c.446G>C (p.Gly149Ala) c.311G>C (p.Gly104Ala) c.419G>C (p.Gly140Ala) c.-11G>C (n.-11G>C) c.464G>C (p.Gly155Ala) c.428G>C (p.Gly143Ala) n.689G>C | |
6 | g.24596228C>T | CA3657841 | KIAA0319 | c.446G>A (p.Gly149Asp) c.311G>A (p.Gly104Asp) c.419G>A (p.Gly140Asp) c.-11G>A (n.-11G>A) c.464G>A (p.Gly155Asp) c.428G>A (p.Gly143Asp) n.689G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596231del | CA2842204256 | KIAA0319 | c.446del (p.Gly149AlafsTer2) c.311del (p.Gly104AlafsTer2) c.419del (p.Gly140AlafsTer2) c.-11del (n.-11del) c.464del (p.Gly155AlafsTer2) c.428del (p.Gly143AlafsTer2) n.689del | |
6 | g.24596229C>A | CA362971752 | KIAA0319 | c.445G>T (p.Gly149Cys) c.310G>T (p.Gly104Cys) c.418G>T (p.Gly140Cys) c.-12G>T (n.-12G>T) c.463G>T (p.Gly155Cys) c.427G>T (p.Gly143Cys) n.688G>T | |
6 | g.24596229C>G | CA362971755 | KIAA0319 | c.445G>C (p.Gly149Arg) c.310G>C (p.Gly104Arg) c.418G>C (p.Gly140Arg) c.-12G>C (n.-12G>C) c.463G>C (p.Gly155Arg) c.427G>C (p.Gly143Arg) n.688G>C | |
6 | g.24596229C>T | CA362971756 | KIAA0319 | c.445G>A (p.Gly149Ser) c.310G>A (p.Gly104Ser) c.418G>A (p.Gly140Ser) c.-12G>A (n.-12G>A) c.463G>A (p.Gly155Ser) c.427G>A (p.Gly143Ser) n.688G>A | |
6 | g.24596230C>A | CA362971760 | KIAA0319 | c.444G>T (p.Trp148Cys) c.309G>T (p.Trp103Cys) c.417G>T (p.Trp139Cys) c.-13G>T (n.-13G>T) c.462G>T (p.Trp154Cys) c.426G>T (p.Trp142Cys) n.687G>T | |
6 | g.24596230C= | CA1616548879 | KIAA0319 | c.444G= (p.Trp148=) c.309G= (p.Trp103=) c.417G= (p.Trp139=) c.-13G= (n.-13G=) c.462G= (p.Trp154=) c.426G= (p.Trp142=) n.687G= | |
6 | g.24596230C>G | CA362971764 | KIAA0319 | c.444G>C (p.Trp148Cys) c.309G>C (p.Trp103Cys) c.417G>C (p.Trp139Cys) c.-13G>C (n.-13G>C) c.462G>C (p.Trp154Cys) c.426G>C (p.Trp142Cys) n.687G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596230C>T | CA362971770 | KIAA0319 | c.444G>A (p.Trp148Ter) c.309G>A (p.Trp103Ter) c.417G>A (p.Trp139Ter) c.-13G>A (n.-13G>A) c.462G>A (p.Trp154Ter) c.426G>A (p.Trp142Ter) n.687G>A | |
6 | g.24596231C>A | CA362971773 | KIAA0319 | c.443G>T (p.Trp148Leu) c.308G>T (p.Trp103Leu) c.416G>T (p.Trp139Leu) c.-14G>T (n.-14G>T) c.461G>T (p.Trp154Leu) c.425G>T (p.Trp142Leu) n.686G>T | |
6 | g.24596231C>G | CA362971776 | KIAA0319 | c.443G>C (p.Trp148Ser) c.308G>C (p.Trp103Ser) c.416G>C (p.Trp139Ser) c.-14G>C (n.-14G>C) c.461G>C (p.Trp154Ser) c.425G>C (p.Trp142Ser) n.686G>C | |
6 | g.24596231C>T | CA362971779 | KIAA0319 | c.443G>A (p.Trp148Ter) c.308G>A (p.Trp103Ter) c.416G>A (p.Trp139Ter) c.-14G>A (n.-14G>A) c.461G>A (p.Trp154Ter) c.425G>A (p.Trp142Ter) n.686G>A | COSMIC |
6 | g.24596231_24596232del | CA2842204257 | KIAA0319 | c.442_443del (p.Trp148GlyfsTer7) c.307_308del (p.Trp103GlyfsTer7) c.415_416del (p.Trp139GlyfsTer7) c.-15_-14del (n.-15_-14del) c.460_461del (p.Trp154GlyfsTer7) c.424_425del (p.Trp142GlyfsTer7) n.685_686del | |
6 | g.24596232A= | CA1616548881 | KIAA0319 | c.442T= (p.Trp148=) c.307T= (p.Trp103=) c.415T= (p.Trp139=) c.-15T= (n.-15T=) c.460T= (p.Trp154=) c.424T= (p.Trp142=) n.685T= | |
6 | g.24596232A>C | CA362971786 | KIAA0319 | c.442T>G (p.Trp148Gly) c.307T>G (p.Trp103Gly) c.415T>G (p.Trp139Gly) c.-15T>G (n.-15T>G) c.460T>G (p.Trp154Gly) c.424T>G (p.Trp142Gly) n.685T>G | |
6 | g.24596232A>G | CA362971782 | KIAA0319 | c.442T>C (p.Trp148Arg) c.307T>C (p.Trp103Arg) c.415T>C (p.Trp139Arg) c.-15T>C (n.-15T>C) c.460T>C (p.Trp154Arg) c.424T>C (p.Trp142Arg) n.685T>C | |
6 | g.24596232A>T | CA3657842 | KIAA0319 | c.442T>A (p.Trp148Arg) c.307T>A (p.Trp103Arg) c.415T>A (p.Trp139Arg) c.-15T>A (n.-15T>A) c.460T>A (p.Trp154Arg) c.424T>A (p.Trp142Arg) n.685T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596233A= | CA1616548884 | KIAA0319 | c.441T= (p.Asp147=) c.306T= (p.Asp102=) c.414T= (p.Asp138=) c.-16T= (n.-16T=) c.459T= (p.Asp153=) c.423T= (p.Asp141=) n.684T= | |
6 | g.24596233A>C | CA362971787 | KIAA0319 | c.441T>G (p.Asp147Glu) c.306T>G (p.Asp102Glu) c.414T>G (p.Asp138Glu) c.-16T>G (n.-16T>G) c.459T>G (p.Asp153Glu) c.423T>G (p.Asp141Glu) n.684T>G | |
6 | g.24596233A>G | CA3657843 | KIAA0319 | c.441T>C (p.Asp147=) c.306T>C (p.Asp102=) c.414T>C (p.Asp138=) c.-16T>C (n.-16T>C) c.459T>C (p.Asp153=) c.423T>C (p.Asp141=) n.684T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596233A>T | CA362971790 | KIAA0319 | c.441T>A (p.Asp147Glu) c.306T>A (p.Asp102Glu) c.414T>A (p.Asp138Glu) c.-16T>A (n.-16T>A) c.459T>A (p.Asp153Glu) c.423T>A (p.Asp141Glu) n.684T>A | |
6 | g.24596234T>A | CA362971793 | KIAA0319 | c.440A>T (p.Asp147Val) c.305A>T (p.Asp102Val) c.413A>T (p.Asp138Val) c.-17A>T (n.-17A>T) c.458A>T (p.Asp153Val) c.422A>T (p.Asp141Val) n.683A>T | |
6 | g.24596234T>C | CA362971795 | KIAA0319 | c.440A>G (p.Asp147Gly) c.305A>G (p.Asp102Gly) c.413A>G (p.Asp138Gly) c.-17A>G (n.-17A>G) c.458A>G (p.Asp153Gly) c.422A>G (p.Asp141Gly) n.683A>G | |
6 | g.24596234T>G | CA362971796 | KIAA0319 | c.440A>C (p.Asp147Ala) c.305A>C (p.Asp102Ala) c.413A>C (p.Asp138Ala) c.-17A>C (n.-17A>C) c.458A>C (p.Asp153Ala) c.422A>C (p.Asp141Ala) n.683A>C | |
6 | g.24596235C>A | CA3657844 | KIAA0319 | c.439G>T (p.Asp147Tyr) c.304G>T (p.Asp102Tyr) c.412G>T (p.Asp138Tyr) c.-18G>T (n.-18G>T) c.457G>T (p.Asp153Tyr) c.421G>T (p.Asp141Tyr) n.682G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596235C= | CA1616548889 | KIAA0319 | c.439G= (p.Asp147=) c.304G= (p.Asp102=) c.412G= (p.Asp138=) c.-18G= (n.-18G=) c.457G= (p.Asp153=) c.421G= (p.Asp141=) n.682G= | |
6 | g.24596235C>G | CA362971802 | KIAA0319 | c.439G>C (p.Asp147His) c.304G>C (p.Asp102His) c.412G>C (p.Asp138His) c.-18G>C (n.-18G>C) c.457G>C (p.Asp153His) c.421G>C (p.Asp141His) n.682G>C | dbSNP gnomAD v4 |
6 | g.24596235C>T | CA362971809 | KIAA0319 | c.439G>A (p.Asp147Asn) c.304G>A (p.Asp102Asn) c.412G>A (p.Asp138Asn) c.-18G>A (n.-18G>A) c.457G>A (p.Asp153Asn) c.421G>A (p.Asp141Asn) n.682G>A | |
6 | g.24596236T>A | CA362971812 | KIAA0319 | c.438A>T (p.Lys146Asn) c.303A>T (p.Lys101Asn) c.411A>T (p.Lys137Asn) c.-19A>T (n.-19A>T) c.456A>T (p.Lys152Asn) c.420A>T (p.Lys140Asn) n.681A>T | |
6 | g.24596236T>C | CA448959386 | KIAA0319 | c.438A>G (p.Lys146=) c.303A>G (p.Lys101=) c.411A>G (p.Lys137=) c.-19A>G (n.-19A>G) c.456A>G (p.Lys152=) c.420A>G (p.Lys140=) n.681A>G | |
6 | g.24596236T>G | CA3657845 | KIAA0319 | c.438A>C (p.Lys146Asn) c.303A>C (p.Lys101Asn) c.411A>C (p.Lys137Asn) c.-19A>C (n.-19A>C) c.456A>C (p.Lys152Asn) c.420A>C (p.Lys140Asn) n.681A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596236T= | CA1616548894 | KIAA0319 | c.438A= (p.Lys146=) c.303A= (p.Lys101=) c.411A= (p.Lys137=) c.-19A= (n.-19A=) c.456A= (p.Lys152=) c.420A= (p.Lys140=) n.681A= | |
6 | g.24596237T>A | CA362971820 | KIAA0319 | c.437A>T (p.Lys146Ile) c.302A>T (p.Lys101Ile) c.410A>T (p.Lys137Ile) c.-20A>T (n.-20A>T) c.455A>T (p.Lys152Ile) c.419A>T (p.Lys140Ile) n.680A>T | |
6 | g.24596237T>C | CA362971822 | KIAA0319 | c.437A>G (p.Lys146Arg) c.302A>G (p.Lys101Arg) c.410A>G (p.Lys137Arg) c.-20A>G (n.-20A>G) c.455A>G (p.Lys152Arg) c.419A>G (p.Lys140Arg) n.680A>G | |
6 | g.24596237T>G | CA362971818 | KIAA0319 | c.437A>C (p.Lys146Thr) c.302A>C (p.Lys101Thr) c.410A>C (p.Lys137Thr) c.-20A>C (n.-20A>C) c.455A>C (p.Lys152Thr) c.419A>C (p.Lys140Thr) n.680A>C | |
6 | g.24596238T>A | CA362971824 | KIAA0319 | c.436A>T (p.Lys146Ter) c.301A>T (p.Lys101Ter) c.409A>T (p.Lys137Ter) c.-21A>T (n.-21A>T) c.454A>T (p.Lys152Ter) c.418A>T (p.Lys140Ter) n.679A>T | |
6 | g.24596238T>C | CA362971825 | KIAA0319 | c.436A>G (p.Lys146Glu) c.301A>G (p.Lys101Glu) c.409A>G (p.Lys137Glu) c.-21A>G (n.-21A>G) c.454A>G (p.Lys152Glu) c.418A>G (p.Lys140Glu) n.679A>G | gnomAD v4 |
6 | g.24596238T>G | CA362971826 | KIAA0319 | c.436A>C (p.Lys146Gln) c.301A>C (p.Lys101Gln) c.409A>C (p.Lys137Gln) c.-21A>C (n.-21A>C) c.454A>C (p.Lys152Gln) c.418A>C (p.Lys140Gln) n.679A>C | |
6 | g.24596239G>A | CA448959387 | KIAA0319 | c.435C>T (p.Gly145=) c.300C>T (p.Gly100=) c.408C>T (p.Gly136=) c.-22C>T (n.-22C>T) c.453C>T (p.Gly151=) c.417C>T (p.Gly139=) n.678C>T | |
6 | g.24596239G>C | CA448959388 | KIAA0319 | c.435C>G (p.Gly145=) c.300C>G (p.Gly100=) c.408C>G (p.Gly136=) c.-22C>G (n.-22C>G) c.453C>G (p.Gly151=) c.417C>G (p.Gly139=) n.678C>G | |
6 | g.24596239G>T | CA448959389 | KIAA0319 | c.435C>A (p.Gly145=) c.300C>A (p.Gly100=) c.408C>A (p.Gly136=) c.-22C>A (n.-22C>A) c.453C>A (p.Gly151=) c.417C>A (p.Gly139=) n.678C>A | |
6 | g.24596240C>A | CA362971827 | KIAA0319 | c.434G>T (p.Gly145Val) c.299G>T (p.Gly100Val) c.407G>T (p.Gly136Val) c.-23G>T (n.-23G>T) c.452G>T (p.Gly151Val) c.416G>T (p.Gly139Val) n.677G>T | |
6 | g.24596240C>G | CA362971829 | KIAA0319 | c.434G>C (p.Gly145Ala) c.299G>C (p.Gly100Ala) c.407G>C (p.Gly136Ala) c.-23G>C (n.-23G>C) c.452G>C (p.Gly151Ala) c.416G>C (p.Gly139Ala) n.677G>C | |
6 | g.24596240C>T | CA362971831 | KIAA0319 | c.434G>A (p.Gly145Asp) c.299G>A (p.Gly100Asp) c.407G>A (p.Gly136Asp) c.-23G>A (n.-23G>A) c.452G>A (p.Gly151Asp) c.416G>A (p.Gly139Asp) n.677G>A | |
6 | g.24596241C>A | CA362971834 | KIAA0319 | c.433G>T (p.Gly145Cys) c.298G>T (p.Gly100Cys) c.406G>T (p.Gly136Cys) c.-23-1G>T (n.-23-1G>T) c.451G>T (p.Gly151Cys) c.415G>T (p.Gly139Cys) n.676G>T | gnomAD v4 |
6 | g.24596241C= | CA1616548898 | KIAA0319 | c.433G= (p.Gly145=) c.298G= (p.Gly100=) c.406G= (p.Gly136=) c.-23-1G= (n.-23-1G=) c.451G= (p.Gly151=) c.415G= (p.Gly139=) n.676G= | |
6 | g.24596241C>G | CA362971836 | KIAA0319 | c.433G>C (p.Gly145Arg) c.298G>C (p.Gly100Arg) c.406G>C (p.Gly136Arg) c.-23-1G>C (n.-23-1G>C) c.451G>C (p.Gly151Arg) c.415G>C (p.Gly139Arg) n.676G>C | |
6 | g.24596241C>T | CA362971840 | KIAA0319 | c.433G>A (p.Gly145Ser) c.298G>A (p.Gly100Ser) c.406G>A (p.Gly136Ser) c.-23-1G>A (n.-23-1G>A) c.451G>A (p.Gly151Ser) c.415G>A (p.Gly139Ser) n.676G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596242T>A | CA448959390 | KIAA0319 | c.432A>T (p.Leu144=) c.297A>T (p.Leu99=) c.405A>T (p.Leu135=) c.-23-2A>T (n.-23-2A>T) c.450A>T (p.Leu150=) c.414A>T (p.Leu138=) n.675A>T | |
6 | g.24596242T>C | CA448959391 | KIAA0319 | c.432A>G (p.Leu144=) c.297A>G (p.Leu99=) c.405A>G (p.Leu135=) c.-23-2A>G (n.-23-2A>G) c.450A>G (p.Leu150=) c.414A>G (p.Leu138=) n.675A>G | gnomAD v4 |
6 | g.24596242T>G | CA448959392 | KIAA0319 | c.432A>C (p.Leu144=) c.297A>C (p.Leu99=) c.405A>C (p.Leu135=) c.-23-2A>C (n.-23-2A>C) c.450A>C (p.Leu150=) c.414A>C (p.Leu138=) n.675A>C | gnomAD v4 |
6 | g.24596243A= | CA1616548901 | KIAA0319 | c.431T= (p.Leu144=) c.296T= (p.Leu99=) c.404T= (p.Leu135=) c.-23-3T= (n.-23-3T=) c.449T= (p.Leu150=) c.413T= (p.Leu138=) n.674T= | |
6 | g.24596243A>C | CA362971841 | KIAA0319 | c.431T>G (p.Leu144Arg) c.296T>G (p.Leu99Arg) c.404T>G (p.Leu135Arg) c.-23-3T>G (n.-23-3T>G) c.449T>G (p.Leu150Arg) c.413T>G (p.Leu138Arg) n.674T>G | |
6 | g.24596243A>G | CA362971842 | KIAA0319 | c.431T>C (p.Leu144Pro) c.296T>C (p.Leu99Pro) c.404T>C (p.Leu135Pro) c.-23-3T>C (n.-23-3T>C) c.449T>C (p.Leu150Pro) c.413T>C (p.Leu138Pro) n.674T>C | |
6 | g.24596243A>T | CA362971844 | KIAA0319 | c.431T>A (p.Leu144Gln) c.296T>A (p.Leu99Gln) c.404T>A (p.Leu135Gln) c.-23-3T>A (n.-23-3T>A) c.449T>A (p.Leu150Gln) c.413T>A (p.Leu138Gln) n.674T>A | dbSNP |
6 | g.24596244_24596245del | CA2838470514 | KIAA0319 | c.430_431del (p.Leu144ArgfsTer11) c.295_296del (p.Leu99ArgfsTer11) c.403_404del (p.Leu135ArgfsTer11) c.-23-4_-23-3del (n.-23-4_-23-3del) c.448_449del (p.Leu150ArgfsTer11) c.412_413del (p.Leu138ArgfsTer11) n.673_674del | |
6 | g.24596244G>A | CA448959393 | KIAA0319 | c.430C>T (p.Leu144=) c.295C>T (p.Leu99=) c.403C>T (p.Leu135=) c.-23-4C>T (n.-23-4C>T) c.448C>T (p.Leu150=) c.412C>T (p.Leu138=) n.673C>T | |
6 | g.24596244G>C | CA362971850 | KIAA0319 | c.430C>G (p.Leu144Val) c.295C>G (p.Leu99Val) c.403C>G (p.Leu135Val) c.-23-4C>G (n.-23-4C>G) c.448C>G (p.Leu150Val) c.412C>G (p.Leu138Val) n.673C>G | |
6 | g.24596244G>T | CA362971847 | KIAA0319 | c.430C>A (p.Leu144Ile) c.295C>A (p.Leu99Ile) c.403C>A (p.Leu135Ile) c.-23-4C>A (n.-23-4C>A) c.448C>A (p.Leu150Ile) c.412C>A (p.Leu138Ile) n.673C>A | |
6 | g.24596245A>C | CA362971853 | KIAA0319 | c.429T>G (p.Phe143Leu) c.294T>G (p.Phe98Leu) c.402T>G (p.Phe134Leu) c.-23-5T>G (n.-23-5T>G) c.447T>G (p.Phe149Leu) c.411T>G (p.Phe137Leu) n.672T>G | |
6 | g.24596245A>G | CA448959394 | KIAA0319 | c.429T>C (p.Phe143=) c.294T>C (p.Phe98=) c.402T>C (p.Phe134=) c.-23-5T>C (n.-23-5T>C) c.447T>C (p.Phe149=) c.411T>C (p.Phe137=) n.672T>C | gnomAD v4 |
6 | g.24596245A>T | CA362971854 | KIAA0319 | c.429T>A (p.Phe143Leu) c.294T>A (p.Phe98Leu) c.402T>A (p.Phe134Leu) c.-23-5T>A (n.-23-5T>A) c.447T>A (p.Phe149Leu) c.411T>A (p.Phe137Leu) n.672T>A | |
6 | g.24596246A>C | CA362971855 | KIAA0319 | c.428T>G (p.Phe143Cys) c.293T>G (p.Phe98Cys) c.401T>G (p.Phe134Cys) c.-23-6T>G (n.-23-6T>G) c.446T>G (p.Phe149Cys) c.410T>G (p.Phe137Cys) n.671T>G | |
6 | g.24596246A>G | CA362971856 | KIAA0319 | c.428T>C (p.Phe143Ser) c.293T>C (p.Phe98Ser) c.401T>C (p.Phe134Ser) c.-23-6T>C (n.-23-6T>C) c.446T>C (p.Phe149Ser) c.410T>C (p.Phe137Ser) n.671T>C | |
6 | g.24596246A>T | CA362971857 | KIAA0319 | c.428T>A (p.Phe143Tyr) c.293T>A (p.Phe98Tyr) c.401T>A (p.Phe134Tyr) c.-23-6T>A (n.-23-6T>A) c.446T>A (p.Phe149Tyr) c.410T>A (p.Phe137Tyr) n.671T>A | |
6 | g.24596247A>C | CA362971862 | KIAA0319 | c.427T>G (p.Phe143Val) c.292T>G (p.Phe98Val) c.400T>G (p.Phe134Val) c.-23-7T>G (n.-23-7T>G) c.445T>G (p.Phe149Val) c.409T>G (p.Phe137Val) n.670T>G | |
6 | g.24596247A>G | CA362971866 | KIAA0319 | c.427T>C (p.Phe143Leu) c.292T>C (p.Phe98Leu) c.400T>C (p.Phe134Leu) c.-23-7T>C (n.-23-7T>C) c.445T>C (p.Phe149Leu) c.409T>C (p.Phe137Leu) n.670T>C | |
6 | g.24596247A>T | CA362971868 | KIAA0319 | c.427T>A (p.Phe143Ile) c.292T>A (p.Phe98Ile) c.400T>A (p.Phe134Ile) c.-23-7T>A (n.-23-7T>A) c.445T>A (p.Phe149Ile) c.409T>A (p.Phe137Ile) n.670T>A | |
6 | g.24596248G>A | CA448959395 | KIAA0319 | c.426C>T (p.Thr142=) c.291C>T (p.Thr97=) c.399C>T (p.Thr133=) c.-23-8C>T (n.-23-8C>T) c.444C>T (p.Thr148=) c.408C>T (p.Thr136=) n.669C>T | COSMIC |
6 | g.24596248G>C | CA448959396 | KIAA0319 | c.426C>G (p.Thr142=) c.291C>G (p.Thr97=) c.399C>G (p.Thr133=) c.-23-8C>G (n.-23-8C>G) c.444C>G (p.Thr148=) c.408C>G (p.Thr136=) n.669C>G | gnomAD v4 |
6 | g.24596248G>T | CA448959397 | KIAA0319 | c.426C>A (p.Thr142=) c.291C>A (p.Thr97=) c.399C>A (p.Thr133=) c.-23-8C>A (n.-23-8C>A) c.444C>A (p.Thr148=) c.408C>A (p.Thr136=) n.669C>A | |
6 | g.24596249G>A | CA362971875 | KIAA0319 | c.425C>T (p.Thr142Ile) c.290C>T (p.Thr97Ile) c.398C>T (p.Thr133Ile) c.-23-9C>T (n.-23-9C>T) c.443C>T (p.Thr148Ile) c.407C>T (p.Thr136Ile) n.668C>T | |
6 | g.24596249G>C | CA362971877 | KIAA0319 | c.425C>G (p.Thr142Ser) c.290C>G (p.Thr97Ser) c.398C>G (p.Thr133Ser) c.-23-9C>G (n.-23-9C>G) c.443C>G (p.Thr148Ser) c.407C>G (p.Thr136Ser) n.668C>G | |
6 | g.24596249G= | CA1616548902 | KIAA0319 | c.425C= (p.Thr142=) c.290C= (p.Thr97=) c.398C= (p.Thr133=) c.-23-9C= (n.-23-9C=) c.443C= (p.Thr148=) c.407C= (p.Thr136=) n.668C= | |
6 | g.24596249G>T | CA3657846 | KIAA0319 | c.425C>A (p.Thr142Asn) c.290C>A (p.Thr97Asn) c.398C>A (p.Thr133Asn) c.-23-9C>A (n.-23-9C>A) c.443C>A (p.Thr148Asn) c.407C>A (p.Thr136Asn) n.668C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596249_24596250insAC | CA2842204258 | KIAA0319 | c.424_425insGT (p.Thr142SerfsTer4) c.289_290insGT (p.Thr97SerfsTer4) c.397_398insGT (p.Thr133SerfsTer4) c.-23-10_-23-9insGT (n.-23-10_-23-9insGT) c.442_443insGT (p.Thr148SerfsTer4) c.406_407insGT (p.Thr136SerfsTer4) n.667_668insGT | |
6 | g.24596250del | CA2677536288 | KIAA0319 | c.424del (p.Thr142ProfsTer3) c.289del (p.Thr97ProfsTer3) c.397del (p.Thr133ProfsTer3) c.-23-10del (n.-23-10del) c.442del (p.Thr148ProfsTer3) c.406del (p.Thr136ProfsTer3) n.667del | gnomAD v4 |
6 | g.24596250T>A | CA362971879 | KIAA0319 | c.424A>T (p.Thr142Ser) c.289A>T (p.Thr97Ser) c.397A>T (p.Thr133Ser) c.-23-10A>T (n.-23-10A>T) c.442A>T (p.Thr148Ser) c.406A>T (p.Thr136Ser) n.667A>T | dbSNP gnomAD v4 |
6 | g.24596250T>C | CA362971881 | KIAA0319 | c.424A>G (p.Thr142Ala) c.289A>G (p.Thr97Ala) c.397A>G (p.Thr133Ala) c.-23-10A>G (n.-23-10A>G) c.442A>G (p.Thr148Ala) c.406A>G (p.Thr136Ala) n.667A>G | dbSNP |
6 | g.24596250T>G | CA3657847 | KIAA0319 | c.424A>C (p.Thr142Pro) c.289A>C (p.Thr97Pro) c.397A>C (p.Thr133Pro) c.-23-10A>C (n.-23-10A>C) c.442A>C (p.Thr148Pro) c.406A>C (p.Thr136Pro) n.667A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596250T= | CA1616548906 | KIAA0319 | c.424A= (p.Thr142=) c.289A= (p.Thr97=) c.397A= (p.Thr133=) c.-23-10A= (n.-23-10A=) c.442A= (p.Thr148=) c.406A= (p.Thr136=) n.667A= | |
6 | g.24596250_24596251insTGCCCTTTCTAGGCCCCAATCTTTGCCTAGAAAGGG | CA2677536289 | KIAA0319 | c.423_424insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (p.Leu141_Thr142insProPheLeuGlyLysAspTrpGlyLeuGluArgAla) c.288_289insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (p.Leu96_Thr97insProPheLeuGlyLysAspTrpGlyLeuGluArgAla) c.396_397insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (p.Leu132_Thr133insProPheLeuGlyLysAspTrpGlyLeuGluArgAla) c.-23-11_-23-10insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (n.-23-11_-23-10insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA) c.441_442insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (p.Leu147_Thr148insProPheLeuGlyLysAspTrpGlyLeuGluArgAla) c.405_406insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (p.Leu135_Thr136insProPheLeuGlyLysAspTrpGlyLeuGluArgAla) n.666_667insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA | gnomAD v4 |
6 | g.24596251C>A | CA362971886 | KIAA0319 | c.423G>T (p.Leu141Phe) c.288G>T (p.Leu96Phe) c.396G>T (p.Leu132Phe) c.-23-11G>T (n.-23-11G>T) c.441G>T (p.Leu147Phe) c.405G>T (p.Leu135Phe) n.666G>T | COSMIC |
6 | g.24596251C>G | CA362971885 | KIAA0319 | c.423G>C (p.Leu141Phe) c.288G>C (p.Leu96Phe) c.396G>C (p.Leu132Phe) c.-23-11G>C (n.-23-11G>C) c.441G>C (p.Leu147Phe) c.405G>C (p.Leu135Phe) n.666G>C | gnomAD v4 |
6 | g.24596251C>T | CA448959398 | KIAA0319 | c.423G>A (p.Leu141=) c.288G>A (p.Leu96=) c.396G>A (p.Leu132=) c.-23-11G>A (n.-23-11G>A) c.441G>A (p.Leu147=) c.405G>A (p.Leu135=) n.666G>A | |
6 | g.24596252A>C | CA362971889 | KIAA0319 | c.422T>G (p.Leu141Trp) c.287T>G (p.Leu96Trp) c.395T>G (p.Leu132Trp) c.-23-12T>G (n.-23-12T>G) c.440T>G (p.Leu147Trp) c.404T>G (p.Leu135Trp) n.665T>G | |
6 | g.24596252A>G | CA362971894 | KIAA0319 | c.422T>C (p.Leu141Ser) c.287T>C (p.Leu96Ser) c.395T>C (p.Leu132Ser) c.-23-12T>C (n.-23-12T>C) c.440T>C (p.Leu147Ser) c.404T>C (p.Leu135Ser) n.665T>C | |
6 | g.24596252A>T | CA362971892 | KIAA0319 | c.422T>A (p.Leu141Ter) c.287T>A (p.Leu96Ter) c.395T>A (p.Leu132Ter) c.-23-12T>A (n.-23-12T>A) c.440T>A (p.Leu147Ter) c.404T>A (p.Leu135Ter) n.665T>A | |
6 | g.24596253A= | CA1616548910 | KIAA0319 | c.421T= (p.Leu141=) c.286T= (p.Leu96=) c.394T= (p.Leu132=) c.-23-13T= (n.-23-13T=) c.439T= (p.Leu147=) c.403T= (p.Leu135=) n.664T= | |
6 | g.24596253A>C | CA362971901 | KIAA0319 | c.421T>G (p.Leu141Val) c.286T>G (p.Leu96Val) c.394T>G (p.Leu132Val) c.-23-13T>G (n.-23-13T>G) c.439T>G (p.Leu147Val) c.403T>G (p.Leu135Val) n.664T>G | gnomAD v4 |
6 | g.24596253A>G | CA448959399 | KIAA0319 | c.421T>C (p.Leu141=) c.286T>C (p.Leu96=) c.394T>C (p.Leu132=) c.-23-13T>C (n.-23-13T>C) c.439T>C (p.Leu147=) c.403T>C (p.Leu135=) n.664T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24596253A>T | CA362971905 | KIAA0319 | c.421T>A (p.Leu141Met) c.286T>A (p.Leu96Met) c.394T>A (p.Leu132Met) c.-23-13T>A (n.-23-13T>A) c.439T>A (p.Leu147Met) c.403T>A (p.Leu135Met) n.664T>A | |
6 | g.24596254G>A | CA448959400 | KIAA0319 | c.420C>T (p.Asp140=) c.285C>T (p.Asp95=) c.393C>T (p.Asp131=) c.-23-14C>T (n.-23-14C>T) c.438C>T (p.Asp146=) c.402C>T (p.Asp134=) n.663C>T | gnomAD v4 |
6 | g.24596254G>C | CA362971911 | KIAA0319 | c.420C>G (p.Asp140Glu) c.285C>G (p.Asp95Glu) c.393C>G (p.Asp131Glu) c.-23-14C>G (n.-23-14C>G) c.438C>G (p.Asp146Glu) c.402C>G (p.Asp134Glu) n.663C>G | |
6 | g.24596254G>T | CA362971913 | KIAA0319 | c.420C>A (p.Asp140Glu) c.285C>A (p.Asp95Glu) c.393C>A (p.Asp131Glu) c.-23-14C>A (n.-23-14C>A) c.438C>A (p.Asp146Glu) c.402C>A (p.Asp134Glu) n.663C>A | |
6 | g.24596255T>A | CA362971916 | KIAA0319 | c.419A>T (p.Asp140Val) c.284A>T (p.Asp95Val) c.392A>T (p.Asp131Val) c.-23-15A>T (n.-23-15A>T) c.437A>T (p.Asp146Val) c.401A>T (p.Asp134Val) n.662A>T | |
6 | g.24596255T>C | CA362971919 | KIAA0319 | c.419A>G (p.Asp140Gly) c.284A>G (p.Asp95Gly) c.392A>G (p.Asp131Gly) c.-23-15A>G (n.-23-15A>G) c.437A>G (p.Asp146Gly) c.401A>G (p.Asp134Gly) n.662A>G | |
6 | g.24596255T>G | CA362971922 | KIAA0319 | c.419A>C (p.Asp140Ala) c.284A>C (p.Asp95Ala) c.392A>C (p.Asp131Ala) c.-23-15A>C (n.-23-15A>C) c.437A>C (p.Asp146Ala) c.401A>C (p.Asp134Ala) n.662A>C | |
6 | g.24596256C>A | CA362971923 | KIAA0319 | c.418G>T (p.Asp140Tyr) c.283G>T (p.Asp95Tyr) c.391G>T (p.Asp131Tyr) c.-23-16G>T (n.-23-16G>T) c.436G>T (p.Asp146Tyr) c.400G>T (p.Asp134Tyr) n.661G>T | |
6 | g.24596256C= | CA1616548912 | KIAA0319 | c.418G= (p.Asp140=) c.283G= (p.Asp95=) c.391G= (p.Asp131=) c.-23-16G= (n.-23-16G=) c.436G= (p.Asp146=) c.400G= (p.Asp134=) n.661G= | |
6 | g.24596256C>G | CA362971924 | KIAA0319 | c.418G>C (p.Asp140His) c.283G>C (p.Asp95His) c.391G>C (p.Asp131His) c.-23-16G>C (n.-23-16G>C) c.436G>C (p.Asp146His) c.400G>C (p.Asp134His) n.661G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24596256C>T | CA362971925 | KIAA0319 | c.418G>A (p.Asp140Asn) c.283G>A (p.Asp95Asn) c.391G>A (p.Asp131Asn) c.-23-16G>A (n.-23-16G>A) c.436G>A (p.Asp146Asn) c.400G>A (p.Asp134Asn) n.661G>A | |
6 | g.24596257C>A | CA3657848 | KIAA0319 | c.417G>T (p.Lys139Asn) c.282G>T (p.Lys94Asn) c.390G>T (p.Lys130Asn) c.-23-17G>T (n.-23-17G>T) c.435G>T (p.Lys145Asn) c.399G>T (p.Lys133Asn) n.660G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24596257C= | CA1616548914 | KIAA0319 | c.417G= (p.Lys139=) c.282G= (p.Lys94=) c.390G= (p.Lys130=) c.-23-17G= (n.-23-17G=) c.435G= (p.Lys145=) c.399G= (p.Lys133=) n.660G= | |
6 | g.24596257C>G | CA362971938 | KIAA0319 | c.417G>C (p.Lys139Asn) c.282G>C (p.Lys94Asn) c.390G>C (p.Lys130Asn) c.-23-17G>C (n.-23-17G>C) c.435G>C (p.Lys145Asn) c.399G>C (p.Lys133Asn) n.660G>C | |
6 | g.24596257C>T | CA448959401 | KIAA0319 | c.417G>A (p.Lys139=) c.282G>A (p.Lys94=) c.390G>A (p.Lys130=) c.-23-17G>A (n.-23-17G>A) c.435G>A (p.Lys145=) c.399G>A (p.Lys133=) n.660G>A | dbSNP |