| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.39999467G>A | CA16044432 | CDK13 | c.2149G>A (p.Gly717Arg) c.701G>A n.631G>A c.1040G>A c.463G>A (p.Gly155Arg) c.79G>A (p.Gly27Arg) c.1489G>A (p.Gly497Arg) n.1218G>A n.3986G>A n.701G>A c.307G>A (p.Gly103Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.39999467G>C | CA367288382 | CDK13 | c.2149G>C (p.Gly717Arg) c.701G>C n.631G>C c.1040G>C c.463G>C (p.Gly155Arg) c.79G>C (p.Gly27Arg) c.1489G>C (p.Gly497Arg) n.1218G>C n.3986G>C n.701G>C c.307G>C (p.Gly103Arg) | |
| 7 | g.39999467G= | CA1701738269 | CDK13 | c.2149G= (p.Gly717=) c.701G= n.631G= c.1040G= c.463G= (p.Gly155=) c.79G= (p.Gly27=) c.1489G= (p.Gly497=) n.1218G= n.3986G= n.701G= c.307G= (p.Gly103=) | |
| 7 | g.39999467G>T | CA367288389 | CDK13 | c.2149G>T (p.Gly717Ter) c.701G>T n.631G>T c.1040G>T c.463G>T (p.Gly155Ter) c.79G>T (p.Gly27Ter) c.1489G>T (p.Gly497Ter) n.1218G>T n.3986G>T n.701G>T c.307G>T (p.Gly103Ter) | |
| 7 | g.39999468G>A | CA367288392 | CDK13 | c.2150G>A (p.Gly717Glu) c.702G>A n.632G>A c.1041G>A c.464G>A (p.Gly155Glu) c.80G>A (p.Gly27Glu) c.1490G>A (p.Gly497Glu) n.1219G>A n.3987G>A n.702G>A c.308G>A (p.Gly103Glu) | dbSNP |
| 7 | g.39999468G>C | CA367288395 | CDK13 | c.2150G>C (p.Gly717Ala) c.702G>C n.632G>C c.1041G>C c.464G>C (p.Gly155Ala) c.80G>C (p.Gly27Ala) c.1490G>C (p.Gly497Ala) n.1219G>C n.3987G>C n.702G>C c.308G>C (p.Gly103Ala) | |
| 7 | g.39999468G>T | CA367288397 | CDK13 | c.2150G>T (p.Gly717Val) c.702G>T n.632G>T c.1041G>T c.464G>T (p.Gly155Val) c.80G>T (p.Gly27Val) c.1490G>T (p.Gly497Val) n.1219G>T n.3987G>T n.702G>T c.308G>T (p.Gly103Val) | |
| 7 | g.39999469A>C | CA454724022 | CDK13 | c.2151A>C (p.Gly717=) c.703A>C n.633A>C c.1042A>C c.465A>C (p.Gly155=) c.81A>C (p.Gly27=) c.1491A>C (p.Gly497=) n.1220A>C n.3988A>C n.703A>C c.309A>C (p.Gly103=) | |
| 7 | g.39999469A>G | CA454724023 | CDK13 | c.2151A>G (p.Gly717=) c.703A>G n.633A>G c.1042A>G c.465A>G (p.Gly155=) c.81A>G (p.Gly27=) c.1491A>G (p.Gly497=) n.1220A>G n.3988A>G n.703A>G c.309A>G (p.Gly103=) | gnomAD v4 |
| 7 | g.39999469A>T | CA454724024 | CDK13 | c.2151A>T (p.Gly717=) c.703A>T n.633A>T c.1042A>T c.465A>T (p.Gly155=) c.81A>T (p.Gly27=) c.1491A>T (p.Gly497=) n.1220A>T n.3988A>T n.703A>T c.309A>T (p.Gly103=) | |
| 7 | g.39999470C>A | CA367288398 | CDK13 | c.2152C>A (p.Gln718Lys) c.704C>A n.634C>A c.1043C>A c.466C>A (p.Gln156Lys) c.82C>A (p.Gln28Lys) c.1492C>A (p.Gln498Lys) n.1221C>A n.3989C>A n.704C>A c.310C>A (p.Gln104Lys) | |
| 7 | g.39999470C= | CA1701738270 | CDK13 | c.2152C= (p.Gln718=) c.704C= n.634C= c.1043C= c.466C= (p.Gln156=) c.82C= (p.Gln28=) c.1492C= (p.Gln498=) n.1221C= n.3989C= n.704C= c.310C= (p.Gln104=) | |
| 7 | g.39999470C>G | CA367288399 | CDK13 | c.2152C>G (p.Gln718Glu) c.704C>G n.634C>G c.1043C>G c.466C>G (p.Gln156Glu) c.82C>G (p.Gln28Glu) c.1492C>G (p.Gln498Glu) n.1221C>G n.3989C>G n.704C>G c.310C>G (p.Gln104Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.39999470C>T | CA367288401 | CDK13 | c.2152C>T (p.Gln718Ter) c.704C>T n.634C>T c.1043C>T c.466C>T (p.Gln156Ter) c.82C>T (p.Gln28Ter) c.1492C>T (p.Gln498Ter) n.1221C>T n.3989C>T n.704C>T c.310C>T (p.Gln104Ter) | |
| 7 | g.39999471A>C | CA367288406 | CDK13 | c.2153A>C (p.Gln718Pro) c.705A>C n.635A>C c.1044A>C c.467A>C (p.Gln156Pro) c.83A>C (p.Gln28Pro) c.1493A>C (p.Gln498Pro) n.1222A>C n.3990A>C n.705A>C c.311A>C (p.Gln104Pro) | |
| 7 | g.39999471A>G | CA367288403 | CDK13 | c.2153A>G (p.Gln718Arg) c.705A>G n.635A>G c.1044A>G c.467A>G (p.Gln156Arg) c.83A>G (p.Gln28Arg) c.1493A>G (p.Gln498Arg) n.1222A>G n.3990A>G n.705A>G c.311A>G (p.Gln104Arg) | |
| 7 | g.39999471A>T | CA367288404 | CDK13 | c.2153A>T (p.Gln718Leu) c.705A>T n.635A>T c.1044A>T c.467A>T (p.Gln156Leu) c.83A>T (p.Gln28Leu) c.1493A>T (p.Gln498Leu) n.1222A>T n.3990A>T n.705A>T c.311A>T (p.Gln104Leu) | |
| 7 | g.39999472A= | CA1701738271 | CDK13 | c.2154A= (p.Gln718=) c.706A= n.636A= c.1045A= c.468A= (p.Gln156=) c.84A= (p.Gln28=) c.1494A= (p.Gln498=) n.1223A= n.3991A= n.706A= c.312A= (p.Gln104=) | |
| 7 | g.39999472A>C | CA367288408 | CDK13 | c.2154A>C (p.Gln718His) c.706A>C n.636A>C c.1045A>C c.468A>C (p.Gln156His) c.84A>C (p.Gln28His) c.1494A>C (p.Gln498His) n.1223A>C n.3991A>C n.706A>C c.312A>C (p.Gln104His) | |
| 7 | g.39999472A>G | CA454724025 | CDK13 | c.2154A>G (p.Gln718=) c.706A>G n.636A>G c.1045A>G c.468A>G (p.Gln156=) c.84A>G (p.Gln28=) c.1494A>G (p.Gln498=) n.1223A>G n.3991A>G n.706A>G c.312A>G (p.Gln104=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.39999472A>T | CA367288410 | CDK13 | c.2154A>T (p.Gln718His) c.706A>T n.636A>T c.1045A>T c.468A>T (p.Gln156His) c.84A>T (p.Gln28His) c.1494A>T (p.Gln498His) n.1223A>T n.3991A>T n.706A>T c.312A>T (p.Gln104His) | |
| 7 | g.39999473G>A | CA367288412 | CDK13 | c.2155G>A (p.Val719Ile) c.707G>A n.637G>A c.1046G>A c.469G>A (p.Val157Ile) c.85G>A (p.Val29Ile) c.1495G>A (p.Val499Ile) n.1224G>A n.3992G>A n.707G>A c.313G>A (p.Val105Ile) | |
| 7 | g.39999473G>C | CA367288413 | CDK13 | c.2155G>C (p.Val719Leu) c.707G>C n.637G>C c.1046G>C c.469G>C (p.Val157Leu) c.85G>C (p.Val29Leu) c.1495G>C (p.Val499Leu) n.1224G>C n.3992G>C n.707G>C c.313G>C (p.Val105Leu) | |
| 7 | g.39999473G>T | CA367288414 | CDK13 | c.2155G>T (p.Val719Phe) c.707G>T n.637G>T c.1046G>T c.469G>T (p.Val157Phe) c.85G>T (p.Val29Phe) c.1495G>T (p.Val499Phe) n.1224G>T n.3992G>T n.707G>T c.313G>T (p.Val105Phe) | |
| 7 | g.39999474T>A | CA367288416 | CDK13 | c.2156T>A (p.Val719Asp) c.708T>A n.638T>A c.1047T>A c.470T>A (p.Val157Asp) c.86T>A (p.Val29Asp) c.1496T>A (p.Val499Asp) n.1225T>A n.3993T>A n.708T>A c.314T>A (p.Val105Asp) | |
| 7 | g.39999474T>C | CA367288418 | CDK13 | c.2156T>C (p.Val719Ala) c.708T>C n.638T>C c.1047T>C c.470T>C (p.Val157Ala) c.86T>C (p.Val29Ala) c.1496T>C (p.Val499Ala) n.1225T>C n.3993T>C n.708T>C c.314T>C (p.Val105Ala) | |
| 7 | g.39999474T>G | CA367288419 | CDK13 | c.2156T>G (p.Val719Gly) c.708T>G n.638T>G c.1047T>G c.470T>G (p.Val157Gly) c.86T>G (p.Val29Gly) c.1496T>G (p.Val499Gly) n.1225T>G n.3993T>G n.708T>G c.314T>G (p.Val105Gly) | |
| 7 | g.39999475T>A | CA454724026 | CDK13 | c.2157T>A (p.Val719=) c.709T>A n.639T>A c.1048T>A c.471T>A (p.Val157=) c.87T>A (p.Val29=) c.1497T>A (p.Val499=) n.1226T>A n.3994T>A n.709T>A c.315T>A (p.Val105=) | |
| 7 | g.39999475T>C | CA454724027 | CDK13 | c.2157T>C (p.Val719=) c.709T>C n.639T>C c.1048T>C c.471T>C (p.Val157=) c.87T>C (p.Val29=) c.1497T>C (p.Val499=) n.1226T>C n.3994T>C n.709T>C c.315T>C (p.Val105=) | |
| 7 | g.39999475T>G | CA454724028 | CDK13 | c.2157T>G (p.Val719=) c.709T>G n.639T>G c.1048T>G c.471T>G (p.Val157=) c.87T>G (p.Val29=) c.1497T>G (p.Val499=) n.1226T>G n.3994T>G n.709T>G c.315T>G (p.Val105=) | |
| 7 | g.39999476T>A | CA367288420 | CDK13 | c.2158T>A (p.Tyr720Asn) c.710T>A n.640T>A c.1049T>A c.472T>A (p.Tyr158Asn) c.88T>A (p.Tyr30Asn) c.1498T>A (p.Tyr500Asn) n.1227T>A n.3995T>A n.710T>A c.316T>A (p.Tyr106Asn) | |
| 7 | g.39999476T>C | CA367288422 | CDK13 | c.2158T>C (p.Tyr720His) c.710T>C n.640T>C c.1049T>C c.472T>C (p.Tyr158His) c.88T>C (p.Tyr30His) c.1498T>C (p.Tyr500His) n.1227T>C n.3995T>C n.710T>C c.316T>C (p.Tyr106His) | |
| 7 | g.39999476T>G | CA367288424 | CDK13 | c.2158T>G (p.Tyr720Asp) c.710T>G n.640T>G c.1049T>G c.472T>G (p.Tyr158Asp) c.88T>G (p.Tyr30Asp) c.1498T>G (p.Tyr500Asp) n.1227T>G n.3995T>G n.710T>G c.316T>G (p.Tyr106Asp) | dbSNP |
| 7 | g.39999476T= | CA1701738272 | CDK13 | c.2158T= (p.Tyr720=) c.710T= n.640T= c.1049T= c.472T= (p.Tyr158=) c.88T= (p.Tyr30=) c.1498T= (p.Tyr500=) n.1227T= n.3995T= n.710T= c.316T= (p.Tyr106=) | |
| 7 | g.39999477A>C | CA367288430 | CDK13 | c.2159A>C (p.Tyr720Ser) c.711A>C n.641A>C c.1050A>C c.473A>C (p.Tyr158Ser) c.89A>C (p.Tyr30Ser) c.1499A>C (p.Tyr500Ser) n.1228A>C n.3996A>C n.711A>C c.317A>C (p.Tyr106Ser) | |
| 7 | g.39999477A>G | CA367288428 | CDK13 | c.2159A>G (p.Tyr720Cys) c.711A>G n.641A>G c.1050A>G c.473A>G (p.Tyr158Cys) c.89A>G (p.Tyr30Cys) c.1499A>G (p.Tyr500Cys) n.1228A>G n.3996A>G n.711A>G c.317A>G (p.Tyr106Cys) | gnomAD v4 |
| 7 | g.39999477A>T | CA367288426 | CDK13 | c.2159A>T (p.Tyr720Phe) c.711A>T n.641A>T c.1050A>T c.473A>T (p.Tyr158Phe) c.89A>T (p.Tyr30Phe) c.1499A>T (p.Tyr500Phe) n.1228A>T n.3996A>T n.711A>T c.317A>T (p.Tyr106Phe) | |
| 7 | g.39999478C>A | CA367288432 | CDK13 | c.2160C>A (p.Tyr720Ter) c.712C>A n.642C>A c.1051C>A c.474C>A (p.Tyr158Ter) c.90C>A (p.Tyr30Ter) c.1500C>A (p.Tyr500Ter) n.1229C>A n.3997C>A n.712C>A c.318C>A (p.Tyr106Ter) | |
| 7 | g.39999478C>G | CA367288434 | CDK13 | c.2160C>G (p.Tyr720Ter) c.712C>G n.642C>G c.1051C>G c.474C>G (p.Tyr158Ter) c.90C>G (p.Tyr30Ter) c.1500C>G (p.Tyr500Ter) n.1229C>G n.3997C>G n.712C>G c.318C>G (p.Tyr106Ter) | |
| 7 | g.39999478C>T | CA454724029 | CDK13 | c.2160C>T (p.Tyr720=) c.712C>T n.642C>T c.1051C>T c.474C>T (p.Tyr158=) c.90C>T (p.Tyr30=) c.1500C>T (p.Tyr500=) n.1229C>T n.3997C>T n.712C>T c.318C>T (p.Tyr106=) | |
| 7 | g.39999479A>C | CA367288436 | CDK13 | c.2161A>C (p.Lys721Gln) c.713A>C n.643A>C c.1052A>C c.475A>C (p.Lys159Gln) c.91A>C (p.Lys31Gln) c.1501A>C (p.Lys501Gln) n.1230A>C n.3998A>C n.713A>C c.319A>C (p.Lys107Gln) | |
| 7 | g.39999479A>G | CA367288437 | CDK13 | c.2161A>G (p.Lys721Glu) c.713A>G n.643A>G c.1052A>G c.475A>G (p.Lys159Glu) c.91A>G (p.Lys31Glu) c.1501A>G (p.Lys501Glu) n.1230A>G n.3998A>G n.713A>G c.319A>G (p.Lys107Glu) | |
| 7 | g.39999479A>T | CA367288439 | CDK13 | c.2161A>T (p.Lys721Ter) c.713A>T n.643A>T c.1052A>T c.475A>T (p.Lys159Ter) c.91A>T (p.Lys31Ter) c.1501A>T (p.Lys501Ter) n.1230A>T n.3998A>T n.713A>T c.319A>T (p.Lys107Ter) | |
| 7 | g.39999480A>C | CA367288441 | CDK13 | c.2162A>C (p.Lys721Thr) c.714A>C n.644A>C c.1053A>C c.476A>C (p.Lys159Thr) c.92A>C (p.Lys31Thr) c.1502A>C (p.Lys501Thr) n.1231A>C n.3999A>C n.714A>C c.320A>C (p.Lys107Thr) | |
| 7 | g.39999480A>G | CA367288443 | CDK13 | c.2162A>G (p.Lys721Arg) c.714A>G n.644A>G c.1053A>G c.476A>G (p.Lys159Arg) c.92A>G (p.Lys31Arg) c.1502A>G (p.Lys501Arg) n.1231A>G n.3999A>G n.714A>G c.320A>G (p.Lys107Arg) | |
| 7 | g.39999480A>T | CA367288448 | CDK13 | c.2162A>T (p.Lys721Ile) c.714A>T n.644A>T c.1053A>T c.476A>T (p.Lys159Ile) c.92A>T (p.Lys31Ile) c.1502A>T (p.Lys501Ile) n.1231A>T n.3999A>T n.714A>T c.320A>T (p.Lys107Ile) | |
| 7 | g.39999480_39999482del | CA2682487101 | CDK13 | c.2162_2164del (p.Lys721_Ala722delinsThr) c.714_716del n.644_646del c.1053_1055del c.476_478del (p.Lys159_Ala160delinsThr) c.92_94del (p.Lys31_Ala32delinsThr) c.1502_1504del (p.Lys501_Ala502delinsThr) n.1231_1233del n.3999_4001del n.714_716del c.320_322del (p.Lys107_Ala108delinsThr) | gnomAD v4 |
| 7 | g.39999481A>C | CA367288450 | CDK13 | c.2163A>C (p.Lys721Asn) c.715A>C n.645A>C c.1054A>C c.477A>C (p.Lys159Asn) c.93A>C (p.Lys31Asn) c.1503A>C (p.Lys501Asn) n.1232A>C n.4000A>C n.715A>C c.321A>C (p.Lys107Asn) | |
| 7 | g.39999481A>G | CA454724031 | CDK13 | c.2163A>G (p.Lys721=) c.715A>G n.645A>G c.1054A>G c.477A>G (p.Lys159=) c.93A>G (p.Lys31=) c.1503A>G (p.Lys501=) n.1232A>G n.4000A>G n.715A>G c.321A>G (p.Lys107=) | |
| 7 | g.39999481A>T | CA367288453 | CDK13 | c.2163A>T (p.Lys721Asn) c.715A>T n.645A>T c.1054A>T c.477A>T (p.Lys159Asn) c.93A>T (p.Lys31Asn) c.1503A>T (p.Lys501Asn) n.1232A>T n.4000A>T n.715A>T c.321A>T (p.Lys107Asn) |