| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.66398519_66398520delinsAT | CA2228852425 | CDH5 | c.1549_1550delinsAT (p.Ile517=) c.-135_-134delinsAT (n.-135_-134delinsAT) c.*672_*673delinsAT (n.*672_*673delinsAT) c.1204_1205delinsAT (p.Ile402=) c.1576_1577delinsAT (p.Ile526=) | |
| 16 | g.66398520del | CA282186636 | CDH5 | c.1550del (p.Ile517ThrfsTer2) c.-134del (n.-134del) c.*673del (n.*673del) c.1205del (p.Ile402ThrfsTer2) c.1577del (p.Ile526ThrfsTer2) | dbSNP gnomAD v4 |
| 16 | g.66398520T>A | CA396194276 | CDH5 | c.1550T>A (p.Ile517Asn) c.-134T>A (n.-134T>A) c.*673T>A (n.*673T>A) c.1205T>A (p.Ile402Asn) c.1577T>A (p.Ile526Asn) | gnomAD v4 |
| 16 | g.66398520T>C | CA8093104 | CDH5 | c.1550T>C (p.Ile517Thr) c.-134T>C (n.-134T>C) c.*673T>C (n.*673T>C) c.1205T>C (p.Ile402Thr) c.1577T>C (p.Ile526Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.66398520T>G | CA396194278 | CDH5 | c.1550T>G (p.Ile517Ser) c.-134T>G (n.-134T>G) c.*673T>G (n.*673T>G) c.1205T>G (p.Ile402Ser) c.1577T>G (p.Ile526Ser) | gnomAD v4 |
| 16 | g.66398520T= | CA2228852428 | CDH5 | c.1550T= (p.Ile517=) c.-134T= (n.-134T=) c.*673T= (n.*673T=) c.1205T= (p.Ile402=) c.1577T= (p.Ile526=) | |
| 16 | g.66398520_66398521delinsCT | CA282186628 | CDH5 | c.1550_1551delinsCT (p.Ile517Thr) c.-134_-133delinsCT (n.-134_-133delinsCT) c.*673_*674delinsCT (n.*673_*674delinsCT) c.1205_1206delinsCT (p.Ile402Thr) c.1577_1578delinsCT (p.Ile526Thr) | dbSNP |
| 16 | g.66398520_66398521delinsTC | CA2228852429 | CDH5 | c.1550_1551delinsTC (p.Ile517=) c.-134_-133delinsTC (n.-134_-133delinsTC) c.*673_*674delinsTC (n.*673_*674delinsTC) c.1205_1206delinsTC (p.Ile402=) c.1577_1578delinsTC (p.Ile526=) | |
| 16 | g.66398521del | CA282186653 | CDH5 | c.1551del (p.Leu518Ter) c.-133del (n.-133del) c.*674del (n.*674del) c.1206del (p.Leu403Ter) c.1578del (p.Leu527Ter) | dbSNP |
| 16 | g.66398521C>A | CA282186654 | CDH5 | c.1551C>A (p.Ile517=) c.-133C>A (n.-133C>A) c.*674C>A (n.*674C>A) c.1206C>A (p.Ile402=) c.1578C>A (p.Ile526=) | dbSNP gnomAD v4 |
| 16 | g.66398521C= | CA2228852433 | CDH5 | c.1551C= (p.Ile517=) c.-133C= (n.-133C=) c.*674C= (n.*674C=) c.1206C= (p.Ile402=) c.1578C= (p.Ile526=) | |
| 16 | g.66398521C>G | CA282186655 | CDH5 | c.1551C>G (p.Ile517Met) c.-133C>G (n.-133C>G) c.*674C>G (n.*674C>G) c.1206C>G (p.Ile402Met) c.1578C>G (p.Ile526Met) | dbSNP |
| 16 | g.66398521C>T | CA8093105 | CDH5 | c.1551C>T (p.Ile517=) c.-133C>T (n.-133C>T) c.*674C>T (n.*674C>T) c.1206C>T (p.Ile402=) c.1578C>T (p.Ile526=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.66398522T>A | CA396194283 | CDH5 | c.1552T>A (p.Leu518Met) c.-132T>A (n.-132T>A) c.*675T>A (n.*675T>A) c.1207T>A (p.Leu403Met) c.1579T>A (p.Leu527Met) | |
| 16 | g.66398522T>C | CA495916748 | CDH5 | c.1552T>C (p.Leu518=) c.-132T>C (n.-132T>C) c.*675T>C (n.*675T>C) c.1207T>C (p.Leu403=) c.1579T>C (p.Leu527=) | gnomAD v4 |
| 16 | g.66398522T>G | CA396194285 | CDH5 | c.1552T>G (p.Leu518Val) c.-132T>G (n.-132T>G) c.*675T>G (n.*675T>G) c.1207T>G (p.Leu403Val) c.1579T>G (p.Leu527Val) | |
| 16 | g.66398523dup | CA2633642187 | CDH5 | c.1553dup (p.Leu518PhefsTer4) c.-131dup (n.-131dup) c.*676dup (n.*676dup) c.1208dup (p.Leu403PhefsTer4) c.1580dup (p.Leu527PhefsTer4) | gnomAD v4 |
| 16 | g.66398523T>A | CA396194287 | CDH5 | c.1553T>A (p.Leu518Ter) c.-131T>A (n.-131T>A) c.*676T>A (n.*676T>A) c.1208T>A (p.Leu403Ter) c.1580T>A (p.Leu527Ter) | |
| 16 | g.66398523T>C | CA396194290 | CDH5 | c.1553T>C (p.Leu518Ser) c.-131T>C (n.-131T>C) c.*676T>C (n.*676T>C) c.1208T>C (p.Leu403Ser) c.1580T>C (p.Leu527Ser) | |
| 16 | g.66398523T>G | CA396194292 | CDH5 | c.1553T>G (p.Leu518Trp) c.-131T>G (n.-131T>G) c.*676T>G (n.*676T>G) c.1208T>G (p.Leu403Trp) c.1580T>G (p.Leu527Trp) | |
| 16 | g.66398524G>A | CA495916769 | CDH5 | c.1554G>A (p.Leu518=) c.-130G>A (n.-130G>A) c.*677G>A (n.*677G>A) c.1209G>A (p.Leu403=) c.1581G>A (p.Leu527=) | gnomAD v4 COSMIC |
| 16 | g.66398524G>C | CA396194295 | CDH5 | c.1554G>C (p.Leu518Phe) c.-130G>C (n.-130G>C) c.*677G>C (n.*677G>C) c.1209G>C (p.Leu403Phe) c.1581G>C (p.Leu527Phe) | |
| 16 | g.66398524G>T | CA396194297 | CDH5 | c.1554G>T (p.Leu518Phe) c.-130G>T (n.-130G>T) c.*677G>T (n.*677G>T) c.1209G>T (p.Leu403Phe) c.1581G>T (p.Leu527Phe) | COSMIC |
| 16 | g.66398525A>C | CA396194307 | CDH5 | c.1555A>C (p.Asn519His) c.-129A>C (n.-129A>C) c.*678A>C (n.*678A>C) c.1210A>C (p.Asn404His) c.1582A>C (p.Asn528His) | |
| 16 | g.66398525A>G | CA396194308 | CDH5 | c.1555A>G (p.Asn519Asp) c.-129A>G (n.-129A>G) c.*678A>G (n.*678A>G) c.1210A>G (p.Asn404Asp) c.1582A>G (p.Asn528Asp) | gnomAD v4 |
| 16 | g.66398525A>T | CA396194311 | CDH5 | c.1555A>T (p.Asn519Tyr) c.-129A>T (n.-129A>T) c.*678A>T (n.*678A>T) c.1210A>T (p.Asn404Tyr) c.1582A>T (p.Asn528Tyr) | |
| 16 | g.66398526A= | CA2228852436 | CDH5 | c.1556A= (p.Asn519=) c.-128A= (n.-128A=) c.*679A= (n.*679A=) c.1211A= (p.Asn404=) c.1583A= (p.Asn528=) | |
| 16 | g.66398526A>C | CA396194314 | CDH5 | c.1556A>C (p.Asn519Thr) c.-128A>C (n.-128A>C) c.*679A>C (n.*679A>C) c.1211A>C (p.Asn404Thr) c.1583A>C (p.Asn528Thr) | gnomAD v4 |
| 16 | g.66398526A>G | CA396194316 | CDH5 | c.1556A>G (p.Asn519Ser) c.-128A>G (n.-128A>G) c.*679A>G (n.*679A>G) c.1211A>G (p.Asn404Ser) c.1583A>G (p.Asn528Ser) | ClinVar dbSNP gnomAD v4 |
| 16 | g.66398526A>T | CA396194317 | CDH5 | c.1556A>T (p.Asn519Ile) c.-128A>T (n.-128A>T) c.*679A>T (n.*679A>T) c.1211A>T (p.Asn404Ile) c.1583A>T (p.Asn528Ile) | gnomAD v4 |
| 16 | g.66398527T>A | CA396194319 | CDH5 | c.1557T>A (p.Asn519Lys) c.-127T>A (n.-127T>A) c.*680T>A (n.*680T>A) c.1212T>A (p.Asn404Lys) c.1584T>A (p.Asn528Lys) | gnomAD v4 |
| 16 | g.66398527T>C | CA495916830 | CDH5 | c.1557T>C (p.Asn519=) c.-127T>C (n.-127T>C) c.*680T>C (n.*680T>C) c.1212T>C (p.Asn404=) c.1584T>C (p.Asn528=) | gnomAD v4 |
| 16 | g.66398527T>G | CA396194318 | CDH5 | c.1557T>G (p.Asn519Lys) c.-127T>G (n.-127T>G) c.*680T>G (n.*680T>G) c.1212T>G (p.Asn404Lys) c.1584T>G (p.Asn528Lys) | |
| 16 | g.66398528A>C | CA396194321 | CDH5 | c.1558A>C (p.Thr520Pro) c.-126A>C (n.-126A>C) c.*681A>C (n.*681A>C) c.1213A>C (p.Thr405Pro) c.1585A>C (p.Thr529Pro) | |
| 16 | g.66398528A>G | CA396194324 | CDH5 | c.1558A>G (p.Thr520Ala) c.-126A>G (n.-126A>G) c.*681A>G (n.*681A>G) c.1213A>G (p.Thr405Ala) c.1585A>G (p.Thr529Ala) | |
| 16 | g.66398528A>T | CA396194322 | CDH5 | c.1558A>T (p.Thr520Ser) c.-126A>T (n.-126A>T) c.*681A>T (n.*681A>T) c.1213A>T (p.Thr405Ser) c.1585A>T (p.Thr529Ser) | |
| 16 | g.66398529C>A | CA282186664 | CDH5 | c.1559C>A (p.Thr520Asn) c.-125C>A (n.-125C>A) c.*682C>A (n.*682C>A) c.1214C>A (p.Thr405Asn) c.1586C>A (p.Thr529Asn) | dbSNP gnomAD v4 |
| 16 | g.66398529C= | CA2228852453 | CDH5 | c.1559C= (p.Thr520=) c.-125C= (n.-125C=) c.*682C= (n.*682C=) c.1214C= (p.Thr405=) c.1586C= (p.Thr529=) | |
| 16 | g.66398529C>G | CA396194325 | CDH5 | c.1559C>G (p.Thr520Ser) c.-125C>G (n.-125C>G) c.*682C>G (n.*682C>G) c.1214C>G (p.Thr405Ser) c.1586C>G (p.Thr529Ser) | |
| 16 | g.66398529C>T | CA396194326 | CDH5 | c.1559C>T (p.Thr520Ile) c.-125C>T (n.-125C>T) c.*682C>T (n.*682C>T) c.1214C>T (p.Thr405Ile) c.1586C>T (p.Thr529Ile) | |
| 16 | g.66398530T>A | CA495916886 | CDH5 | c.1560T>A (p.Thr520=) c.-124T>A (n.-124T>A) c.*683T>A (n.*683T>A) c.1215T>A (p.Thr405=) c.1587T>A (p.Thr529=) | |
| 16 | g.66398530T>C | CA495916887 | CDH5 | c.1560T>C (p.Thr520=) c.-124T>C (n.-124T>C) c.*683T>C (n.*683T>C) c.1215T>C (p.Thr405=) c.1587T>C (p.Thr529=) | gnomAD v4 |
| 16 | g.66398530T>G | CA495916888 | CDH5 | c.1560T>G (p.Thr520=) c.-124T>G (n.-124T>G) c.*683T>G (n.*683T>G) c.1215T>G (p.Thr405=) c.1587T>G (p.Thr529=) | dbSNP gnomAD v4 |
| 16 | g.66398530T= | CA2228852455 | CDH5 | c.1560T= (p.Thr520=) c.-124T= (n.-124T=) c.*683T= (n.*683T=) c.1215T= (p.Thr405=) c.1587T= (p.Thr529=) | |
| 16 | g.66398531G>A | CA396194329 | CDH5 | c.1561G>A (p.Glu521Lys) c.-123G>A (n.-123G>A) c.*684G>A (n.*684G>A) c.1216G>A (p.Glu406Lys) c.1588G>A (p.Glu530Lys) | gnomAD v4 |
| 16 | g.66398531G>C | CA396194332 | CDH5 | c.1561G>C (p.Glu521Gln) c.-123G>C (n.-123G>C) c.*684G>C (n.*684G>C) c.1216G>C (p.Glu406Gln) c.1588G>C (p.Glu530Gln) | |
| 16 | g.66398531G>T | CA396194334 | CDH5 | c.1561G>T (p.Glu521Ter) c.-123G>T (n.-123G>T) c.*684G>T (n.*684G>T) c.1216G>T (p.Glu406Ter) c.1588G>T (p.Glu530Ter) | |
| 16 | g.66398533_66398534del | CA2633642208 | CDH5 | c.1563_1564del (p.Asn522GlnfsTer7) c.-121_-120del (n.-121_-120del) c.*686_*687del (n.*686_*687del) c.1218_1219del (p.Asn407GlnfsTer7) c.1590_1591del (p.Asn531GlnfsTer7) | gnomAD v4 |
| 16 | g.66398532A>C | CA396194341 | CDH5 | c.1562A>C (p.Glu521Ala) c.-122A>C (n.-122A>C) c.*685A>C (n.*685A>C) c.1217A>C (p.Glu406Ala) c.1589A>C (p.Glu530Ala) | |
| 16 | g.66398532A>G | CA396194337 | CDH5 | c.1562A>G (p.Glu521Gly) c.-122A>G (n.-122A>G) c.*685A>G (n.*685A>G) c.1217A>G (p.Glu406Gly) c.1589A>G (p.Glu530Gly) | gnomAD v4 |