| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490408_67490411delinsGTAC | CA1980172450 | AIP | c.715_718delinsGTAC c.549_552delinsGTAC (p.Glu183=) n.1250_1253delinsGTAC c.469-589_469-586delinsGTAC (n.469-589_469-586delinsGTAC) c.369_372delinsGTAC (p.Glu123=) c.738_741delinsGTAC (p.Glu246=) c.561_564delinsGTAC (p.Glu187=) c.558_561delinsGTAC (p.Glu186=) c.390_393delinsGTAC (p.Glu130=) | |
| 11 | g.67490409T>A | CA381551836 | AIP | c.716T>A c.550T>A (p.Tyr184Asn) n.1251T>A c.469-588T>A (n.469-588T>A) c.370T>A (p.Tyr124Asn) c.739T>A (p.Tyr247Asn) c.562T>A (p.Tyr188Asn) c.559T>A (p.Tyr187Asn) c.391T>A (p.Tyr131Asn) | |
| 11 | g.67490409T>C | CA381551840 | AIP | c.716T>C c.550T>C (p.Tyr184His) n.1251T>C c.469-588T>C (n.469-588T>C) c.370T>C (p.Tyr124His) c.739T>C (p.Tyr247His) c.562T>C (p.Tyr188His) c.559T>C (p.Tyr187His) c.391T>C (p.Tyr131His) | |
| 11 | g.67490409T>G | CA381551838 | AIP | c.716T>G c.550T>G (p.Tyr184Asp) n.1251T>G c.469-588T>G (n.469-588T>G) c.370T>G (p.Tyr124Asp) c.739T>G (p.Tyr247Asp) c.562T>G (p.Tyr188Asp) c.559T>G (p.Tyr187Asp) c.391T>G (p.Tyr131Asp) | dbSNP |
| 11 | g.67490409T= | CA1980172451 | AIP | c.716T= c.550T= (p.Tyr184=) n.1251T= c.469-588T= (n.469-588T=) c.370T= (p.Tyr124=) c.739T= (p.Tyr247=) c.562T= (p.Tyr188=) c.559T= (p.Tyr187=) c.391T= (p.Tyr131=) | |
| 11 | g.67490412_67490414del | CA344175 | AIP | c.719_721del c.553_555del (p.Tyr185del) n.1254_1256del c.469-585_469-583del (n.469-585_469-583del) c.373_375del (p.Tyr125del) c.742_744del (p.Tyr248del) c.565_567del (p.Tyr189del) c.562_564del (p.Tyr188del) c.394_396del (p.Tyr132del) | dbSNP |
| 11 | g.67490410A>C | CA381551842 | AIP | c.717A>C c.551A>C (p.Tyr184Ser) n.1252A>C c.469-587A>C (n.469-587A>C) c.371A>C (p.Tyr124Ser) c.740A>C (p.Tyr247Ser) c.563A>C (p.Tyr188Ser) c.560A>C (p.Tyr187Ser) c.392A>C (p.Tyr131Ser) | |
| 11 | g.67490410A>G | CA381551844 | AIP | c.717A>G c.551A>G (p.Tyr184Cys) n.1252A>G c.469-587A>G (n.469-587A>G) c.371A>G (p.Tyr124Cys) c.740A>G (p.Tyr247Cys) c.563A>G (p.Tyr188Cys) c.560A>G (p.Tyr187Cys) c.392A>G (p.Tyr131Cys) | gnomAD v4 |
| 11 | g.67490410A>T | CA381551846 | AIP | c.717A>T c.551A>T (p.Tyr184Phe) n.1252A>T c.469-587A>T (n.469-587A>T) c.371A>T (p.Tyr124Phe) c.740A>T (p.Tyr247Phe) c.563A>T (p.Tyr188Phe) c.560A>T (p.Tyr187Phe) c.392A>T (p.Tyr131Phe) | ClinVar |
| 11 | g.67490411C>A | CA381551848 | AIP | c.718C>A c.552C>A (p.Tyr184Ter) n.1253C>A c.469-586C>A (n.469-586C>A) c.372C>A (p.Tyr124Ter) c.741C>A (p.Tyr247Ter) c.564C>A (p.Tyr188Ter) c.561C>A (p.Tyr187Ter) c.393C>A (p.Tyr131Ter) | |
| 11 | g.67490411C>G | CA381551850 | AIP | c.718C>G c.552C>G (p.Tyr184Ter) n.1253C>G c.469-586C>G (n.469-586C>G) c.372C>G (p.Tyr124Ter) c.741C>G (p.Tyr247Ter) c.564C>G (p.Tyr188Ter) c.561C>G (p.Tyr187Ter) c.393C>G (p.Tyr131Ter) | COSMIC |
| 11 | g.67490411C>T | CA475509268 | AIP | c.718C>T c.552C>T (p.Tyr184=) n.1253C>T c.469-586C>T (n.469-586C>T) c.372C>T (p.Tyr124=) c.741C>T (p.Tyr247=) c.564C>T (p.Tyr188=) c.561C>T (p.Tyr187=) c.393C>T (p.Tyr131=) | |
| 11 | g.67490412T>A | CA381551852 | AIP | c.719T>A c.553T>A (p.Tyr185Asn) n.1254T>A c.469-585T>A (n.469-585T>A) c.373T>A (p.Tyr125Asn) c.742T>A (p.Tyr248Asn) c.565T>A (p.Tyr189Asn) c.562T>A (p.Tyr188Asn) c.394T>A (p.Tyr132Asn) | |
| 11 | g.67490412T>C | CA381551854 | AIP | c.719T>C c.553T>C (p.Tyr185His) n.1254T>C c.469-585T>C (n.469-585T>C) c.373T>C (p.Tyr125His) c.742T>C (p.Tyr248His) c.565T>C (p.Tyr189His) c.562T>C (p.Tyr188His) c.394T>C (p.Tyr132His) | ClinVar |
| 11 | g.67490412T>G | CA381551856 | AIP | c.719T>G c.553T>G (p.Tyr185Asp) n.1254T>G c.469-585T>G (n.469-585T>G) c.373T>G (p.Tyr125Asp) c.742T>G (p.Tyr248Asp) c.565T>G (p.Tyr189Asp) c.562T>G (p.Tyr188Asp) c.394T>G (p.Tyr132Asp) | |
| 11 | g.67490413A= | CA1980172452 | AIP | c.720A= c.554A= (p.Tyr185=) n.1255A= c.469-584A= (n.469-584A=) c.374A= (p.Tyr125=) c.743A= (p.Tyr248=) c.566A= (p.Tyr189=) c.563A= (p.Tyr188=) c.395A= (p.Tyr132=) | |
| 11 | g.67490413A>C | CA381551858 | AIP | c.720A>C c.554A>C (p.Tyr185Ser) n.1255A>C c.469-584A>C (n.469-584A>C) c.374A>C (p.Tyr125Ser) c.743A>C (p.Tyr248Ser) c.566A>C (p.Tyr189Ser) c.563A>C (p.Tyr188Ser) c.395A>C (p.Tyr132Ser) | |
| 11 | g.67490413A>G | CA381551860 | AIP | c.720A>G c.554A>G (p.Tyr185Cys) n.1255A>G c.469-584A>G (n.469-584A>G) c.374A>G (p.Tyr125Cys) c.743A>G (p.Tyr248Cys) c.566A>G (p.Tyr189Cys) c.563A>G (p.Tyr188Cys) c.395A>G (p.Tyr132Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490413A>T | CA381551861 | AIP | c.720A>T c.554A>T (p.Tyr185Phe) n.1255A>T c.469-584A>T (n.469-584A>T) c.374A>T (p.Tyr125Phe) c.743A>T (p.Tyr248Phe) c.566A>T (p.Tyr189Phe) c.563A>T (p.Tyr188Phe) c.395A>T (p.Tyr132Phe) | |
| 11 | g.67490414C>A | CA381551862 | AIP | c.721C>A c.555C>A (p.Tyr185Ter) n.1256C>A c.469-583C>A (n.469-583C>A) c.375C>A (p.Tyr125Ter) c.744C>A (p.Tyr248Ter) c.567C>A (p.Tyr189Ter) c.564C>A (p.Tyr188Ter) c.396C>A (p.Tyr132Ter) | |
| 11 | g.67490414C= | CA1980172453 | AIP | c.721C= c.555C= (p.Tyr185=) n.1256C= c.469-583C= (n.469-583C=) c.375C= (p.Tyr125=) c.744C= (p.Tyr248=) c.567C= (p.Tyr189=) c.564C= (p.Tyr188=) c.396C= (p.Tyr132=) | |
| 11 | g.67490414C>G | CA381551863 | AIP | c.721C>G c.555C>G (p.Tyr185Ter) n.1256C>G c.469-583C>G (n.469-583C>G) c.375C>G (p.Tyr125Ter) c.744C>G (p.Tyr248Ter) c.567C>G (p.Tyr189Ter) c.564C>G (p.Tyr188Ter) c.396C>G (p.Tyr132Ter) | |
| 11 | g.67490414C>T | CA6140926 | AIP | c.721C>T c.555C>T (p.Tyr185=) n.1256C>T c.469-583C>T (n.469-583C>T) c.375C>T (p.Tyr125=) c.744C>T (p.Tyr248=) c.567C>T (p.Tyr189=) c.564C>T (p.Tyr188=) c.396C>T (p.Tyr132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490415G>A | CA381551864 | AIP | c.722G>A c.556G>A (p.Glu186Lys) n.1257G>A c.469-582G>A (n.469-582G>A) c.376G>A (p.Glu126Lys) c.745G>A (p.Glu249Lys) c.568G>A (p.Glu190Lys) c.565G>A (p.Glu189Lys) c.397G>A (p.Glu133Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490415G>C | CA381551866 | AIP | c.722G>C c.556G>C (p.Glu186Gln) n.1257G>C c.469-582G>C (n.469-582G>C) c.376G>C (p.Glu126Gln) c.745G>C (p.Glu249Gln) c.568G>C (p.Glu190Gln) c.565G>C (p.Glu189Gln) c.397G>C (p.Glu133Gln) | ClinVar |
| 11 | g.67490415G= | CA1980172454 | AIP | c.722G= c.556G= (p.Glu186=) n.1257G= c.469-582G= (n.469-582G=) c.376G= (p.Glu126=) c.745G= (p.Glu249=) c.568G= (p.Glu190=) c.565G= (p.Glu189=) c.397G= (p.Glu133=) | |
| 11 | g.67490415G>T | CA381551865 | AIP | c.722G>T c.556G>T (p.Glu186Ter) n.1257G>T c.469-582G>T (n.469-582G>T) c.376G>T (p.Glu126Ter) c.745G>T (p.Glu249Ter) c.568G>T (p.Glu190Ter) c.565G>T (p.Glu189Ter) c.397G>T (p.Glu133Ter) | |
| 11 | g.67490416A>C | CA381551867 | AIP | c.723A>C c.557A>C (p.Glu186Ala) n.1258A>C c.469-581A>C (n.469-581A>C) c.377A>C (p.Glu126Ala) c.746A>C (p.Glu249Ala) c.569A>C (p.Glu190Ala) c.566A>C (p.Glu189Ala) c.398A>C (p.Glu133Ala) | |
| 11 | g.67490416A>G | CA381551868 | AIP | c.723A>G c.557A>G (p.Glu186Gly) n.1258A>G c.469-581A>G (n.469-581A>G) c.377A>G (p.Glu126Gly) c.746A>G (p.Glu249Gly) c.569A>G (p.Glu190Gly) c.566A>G (p.Glu189Gly) c.398A>G (p.Glu133Gly) | |
| 11 | g.67490416A>T | CA381551869 | AIP | c.723A>T c.557A>T (p.Glu186Val) n.1258A>T c.469-581A>T (n.469-581A>T) c.377A>T (p.Glu126Val) c.746A>T (p.Glu249Val) c.569A>T (p.Glu190Val) c.566A>T (p.Glu189Val) c.398A>T (p.Glu133Val) | |
| 11 | g.67490417G>A | CA6140927 | AIP | c.724G>A c.558G>A (p.Glu186=) n.1259G>A c.469-580G>A (n.469-580G>A) c.378G>A (p.Glu126=) c.747G>A (p.Glu249=) c.570G>A (p.Glu190=) c.567G>A (p.Glu189=) c.399G>A (p.Glu133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490417G>C | CA381551870 | AIP | c.724G>C c.558G>C (p.Glu186Asp) n.1259G>C c.469-580G>C (n.469-580G>C) c.378G>C (p.Glu126Asp) c.747G>C (p.Glu249Asp) c.570G>C (p.Glu190Asp) c.567G>C (p.Glu189Asp) c.399G>C (p.Glu133Asp) | |
| 11 | g.67490417G= | CA1980172455 | AIP | c.724G= c.558G= (p.Glu186=) n.1259G= c.469-580G= (n.469-580G=) c.378G= (p.Glu126=) c.747G= (p.Glu249=) c.570G= (p.Glu190=) c.567G= (p.Glu189=) c.399G= (p.Glu133=) | |
| 11 | g.67490417G>T | CA381551871 | AIP | c.724G>T c.558G>T (p.Glu186Asp) n.1259G>T c.469-580G>T (n.469-580G>T) c.378G>T (p.Glu126Asp) c.747G>T (p.Glu249Asp) c.570G>T (p.Glu190Asp) c.567G>T (p.Glu189Asp) c.399G>T (p.Glu133Asp) | |
| 11 | g.67490418G>A | CA381551872 | AIP | c.725G>A c.559G>A (p.Val187Met) n.1260G>A c.469-579G>A (n.469-579G>A) c.379G>A (p.Val127Met) c.748G>A (p.Val250Met) c.571G>A (p.Val191Met) c.568G>A (p.Val190Met) c.400G>A (p.Val134Met) | |
| 11 | g.67490418G>C | CA381551873 | AIP | c.725G>C c.559G>C (p.Val187Leu) n.1260G>C c.469-579G>C (n.469-579G>C) c.379G>C (p.Val127Leu) c.748G>C (p.Val250Leu) c.571G>C (p.Val191Leu) c.568G>C (p.Val190Leu) c.400G>C (p.Val134Leu) | ClinVar |
| 11 | g.67490418G>T | CA381551874 | AIP | c.725G>T c.559G>T (p.Val187Leu) n.1260G>T c.469-579G>T (n.469-579G>T) c.379G>T (p.Val127Leu) c.748G>T (p.Val250Leu) c.571G>T (p.Val191Leu) c.568G>T (p.Val190Leu) c.400G>T (p.Val134Leu) | gnomAD v4 |
| 11 | g.67490419T>A | CA381551876 | AIP | c.726T>A c.560T>A (p.Val187Glu) n.1261T>A c.469-578T>A (n.469-578T>A) c.380T>A (p.Val127Glu) c.749T>A (p.Val250Glu) c.572T>A (p.Val191Glu) c.569T>A (p.Val190Glu) c.401T>A (p.Val134Glu) | dbSNP |
| 11 | g.67490419T>C | CA381551877 | AIP | c.726T>C c.560T>C (p.Val187Ala) n.1261T>C c.469-578T>C (n.469-578T>C) c.380T>C (p.Val127Ala) c.749T>C (p.Val250Ala) c.572T>C (p.Val191Ala) c.569T>C (p.Val190Ala) c.401T>C (p.Val134Ala) | |
| 11 | g.67490419T>G | CA381551875 | AIP | c.726T>G c.560T>G (p.Val187Gly) n.1261T>G c.469-578T>G (n.469-578T>G) c.380T>G (p.Val127Gly) c.749T>G (p.Val250Gly) c.572T>G (p.Val191Gly) c.569T>G (p.Val190Gly) c.401T>G (p.Val134Gly) | |
| 11 | g.67490419T= | CA1980172456 | AIP | c.726T= c.560T= (p.Val187=) n.1261T= c.469-578T= (n.469-578T=) c.380T= (p.Val127=) c.749T= (p.Val250=) c.572T= (p.Val191=) c.569T= (p.Val190=) c.401T= (p.Val134=) | |
| 11 | g.67490420G>A | CA475509273 | AIP | c.727G>A c.561G>A (p.Val187=) n.1262G>A c.469-577G>A (n.469-577G>A) c.381G>A (p.Val127=) c.750G>A (p.Val250=) c.573G>A (p.Val191=) c.570G>A (p.Val190=) c.402G>A (p.Val134=) | |
| 11 | g.67490420G>C | CA475509275 | AIP | c.727G>C c.561G>C (p.Val187=) n.1262G>C c.469-577G>C (n.469-577G>C) c.381G>C (p.Val127=) c.750G>C (p.Val250=) c.573G>C (p.Val191=) c.570G>C (p.Val190=) c.402G>C (p.Val134=) | ClinVar |
| 11 | g.67490420G>T | CA475509277 | AIP | c.727G>T c.561G>T (p.Val187=) n.1262G>T c.469-577G>T (n.469-577G>T) c.381G>T (p.Val127=) c.750G>T (p.Val250=) c.573G>T (p.Val191=) c.570G>T (p.Val190=) c.402G>T (p.Val134=) | |
| 11 | g.67490421C>A | CA381551878 | AIP | c.728C>A c.562C>A (p.Leu188Met) n.1263C>A c.469-576C>A (n.469-576C>A) c.382C>A (p.Leu128Met) c.751C>A (p.Leu251Met) c.574C>A (p.Leu192Met) c.571C>A (p.Leu191Met) c.403C>A (p.Leu135Met) | |
| 11 | g.67490421C>G | CA381551879 | AIP | c.728C>G c.562C>G (p.Leu188Val) n.1263C>G c.469-576C>G (n.469-576C>G) c.382C>G (p.Leu128Val) c.751C>G (p.Leu251Val) c.574C>G (p.Leu192Val) c.571C>G (p.Leu191Val) c.403C>G (p.Leu135Val) | ClinVar gnomAD v4 |
| 11 | g.67490421C>T | CA475509278 | AIP | c.728C>T c.562C>T (p.Leu188=) n.1263C>T c.469-576C>T (n.469-576C>T) c.382C>T (p.Leu128=) c.751C>T (p.Leu251=) c.574C>T (p.Leu192=) c.571C>T (p.Leu191=) c.403C>T (p.Leu135=) | |
| 11 | g.67490422del | CA2695214805 | AIP | c.729del c.563del (p.Leu188ArgfsTer?) n.1264del c.469-575del (n.469-575del) c.383del (p.Leu128ArgfsTer?) c.752del (p.Leu251ArgfsTer?) c.575del (p.Leu192ArgfsTer?) c.572del (p.Leu191ArgfsTer?) c.404del (p.Leu135ArgfsTer?) | |
| 11 | g.67490422T>A | CA381551880 | AIP | c.729T>A c.563T>A (p.Leu188Gln) n.1264T>A c.469-575T>A (n.469-575T>A) c.383T>A (p.Leu128Gln) c.752T>A (p.Leu251Gln) c.575T>A (p.Leu192Gln) c.572T>A (p.Leu191Gln) c.404T>A (p.Leu135Gln) | |
| 11 | g.67490422T>C | CA381551881 | AIP | c.729T>C c.563T>C (p.Leu188Pro) n.1264T>C c.469-575T>C (n.469-575T>C) c.383T>C (p.Leu128Pro) c.752T>C (p.Leu251Pro) c.575T>C (p.Leu192Pro) c.572T>C (p.Leu191Pro) c.404T>C (p.Leu135Pro) |