| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91273545T>A | CA390610737 | CCDC88C | c.5167A>T (p.Lys1723Ter) c.739A>T (p.Lys247Ter) n.979A>T c.1395A>T c.5059A>T (p.Lys1687Ter) n.5442A>T c.2248A>T (p.Lys750Ter) n.5440A>T | |
| 14 | g.91273545T>C | CA390610738 | CCDC88C | c.5167A>G (p.Lys1723Glu) c.739A>G (p.Lys247Glu) n.979A>G c.1395A>G c.5059A>G (p.Lys1687Glu) n.5442A>G c.2248A>G (p.Lys750Glu) n.5440A>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91273545T>G | CA390610739 | CCDC88C | c.5167A>C (p.Lys1723Gln) c.739A>C (p.Lys247Gln) n.979A>C c.1395A>C c.5059A>C (p.Lys1687Gln) n.5442A>C c.2248A>C (p.Lys750Gln) n.5440A>C | |
| 14 | g.91273545T= | CA2154902670 | CCDC88C | c.5167A= (p.Lys1723=) c.739A= (p.Lys247=) n.979A= c.1395A= c.5059A= (p.Lys1687=) n.5442A= c.2248A= (p.Lys750=) n.5440A= | |
| 14 | g.91273546G>A | CA487829338 | CCDC88C | c.5166C>T (p.Ala1722=) c.738C>T (p.Ala246=) n.978C>T c.1394C>T c.5058C>T (p.Ala1686=) n.5441C>T c.2247C>T (p.Ala749=) n.5439C>T | gnomAD v4 |
| 14 | g.91273546G>C | CA487829337 | CCDC88C | c.5166C>G (p.Ala1722=) c.738C>G (p.Ala246=) n.978C>G c.1394C>G c.5058C>G (p.Ala1686=) n.5441C>G c.2247C>G (p.Ala749=) n.5439C>G | gnomAD v4 |
| 14 | g.91273546G>T | CA487829336 | CCDC88C | c.5166C>A (p.Ala1722=) c.738C>A (p.Ala246=) n.978C>A c.1394C>A c.5058C>A (p.Ala1686=) n.5441C>A c.2247C>A (p.Ala749=) n.5439C>A | gnomAD v4 |
| 14 | g.91273547G>A | CA390610740 | CCDC88C | c.5165C>T (p.Ala1722Val) c.737C>T (p.Ala246Val) n.977C>T c.1393C>T c.5057C>T (p.Ala1686Val) n.5440C>T c.2246C>T (p.Ala749Val) n.5438C>T | gnomAD v4 |
| 14 | g.91273547G>C | CA390610741 | CCDC88C | c.5165C>G (p.Ala1722Gly) c.737C>G (p.Ala246Gly) n.977C>G c.1393C>G c.5057C>G (p.Ala1686Gly) n.5440C>G c.2246C>G (p.Ala749Gly) n.5438C>G | |
| 14 | g.91273547G= | CA2154902673 | CCDC88C | c.5165C= (p.Ala1722=) c.737C= (p.Ala246=) n.977C= c.1393C= c.5057C= (p.Ala1686=) n.5440C= c.2246C= (p.Ala749=) n.5438C= | |
| 14 | g.91273547G>T | CA390610742 | CCDC88C | c.5165C>A (p.Ala1722Asp) c.737C>A (p.Ala246Asp) n.977C>A c.1393C>A c.5057C>A (p.Ala1686Asp) n.5440C>A c.2246C>A (p.Ala749Asp) n.5438C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273548C>A | CA390610745 | CCDC88C | c.5164G>T (p.Ala1722Ser) c.736G>T (p.Ala246Ser) n.976G>T c.1392G>T c.5056G>T (p.Ala1686Ser) n.5439G>T c.2245G>T (p.Ala749Ser) n.5437G>T | gnomAD v4 |
| 14 | g.91273548C>G | CA390610744 | CCDC88C | c.5164G>C (p.Ala1722Pro) c.736G>C (p.Ala246Pro) n.976G>C c.1392G>C c.5056G>C (p.Ala1686Pro) n.5439G>C c.2245G>C (p.Ala749Pro) n.5437G>C | |
| 14 | g.91273548C>T | CA390610743 | CCDC88C | c.5164G>A (p.Ala1722Thr) c.736G>A (p.Ala246Thr) n.976G>A c.1392G>A c.5056G>A (p.Ala1686Thr) n.5439G>A c.2245G>A (p.Ala749Thr) n.5437G>A | COSMIC COSMIC COSMIC |
| 14 | g.91273549C>A | CA487829339 | CCDC88C | c.5163G>T (p.Gly1721=) c.735G>T (p.Gly245=) n.975G>T c.1391G>T c.5055G>T (p.Gly1685=) n.5438G>T c.2244G>T (p.Gly748=) n.5436G>T | gnomAD v4 |
| 14 | g.91273549C= | CA2154902678 | CCDC88C | c.5163G= (p.Gly1721=) c.735G= (p.Gly245=) n.975G= c.1391G= c.5055G= (p.Gly1685=) n.5438G= c.2244G= (p.Gly748=) n.5436G= | |
| 14 | g.91273549C>G | CA487829340 | CCDC88C | c.5163G>C (p.Gly1721=) c.735G>C (p.Gly245=) n.975G>C c.1391G>C c.5055G>C (p.Gly1685=) n.5438G>C c.2244G>C (p.Gly748=) n.5436G>C | |
| 14 | g.91273549C>T | CA7308718 | CCDC88C | c.5163G>A (p.Gly1721=) c.735G>A (p.Gly245=) n.975G>A c.1391G>A c.5055G>A (p.Gly1685=) n.5438G>A c.2244G>A (p.Gly748=) n.5436G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273550C>A | CA390610746 | CCDC88C | c.5162G>T (p.Gly1721Val) c.734G>T (p.Gly245Val) n.974G>T c.1390G>T c.5054G>T (p.Gly1685Val) n.5437G>T c.2243G>T (p.Gly748Val) n.5435G>T | gnomAD v4 |
| 14 | g.91273550C>G | CA390610747 | CCDC88C | c.5162G>C (p.Gly1721Ala) c.734G>C (p.Gly245Ala) n.974G>C c.1390G>C c.5054G>C (p.Gly1685Ala) n.5437G>C c.2243G>C (p.Gly748Ala) n.5435G>C | |
| 14 | g.91273550C>T | CA390610748 | CCDC88C | c.5162G>A (p.Gly1721Glu) c.734G>A (p.Gly245Glu) n.974G>A c.1390G>A c.5054G>A (p.Gly1685Glu) n.5437G>A c.2243G>A (p.Gly748Glu) n.5435G>A | gnomAD v4 |
| 14 | g.91273550_91273553delinsCCTT | CA2154902680 | CCDC88C | c.5159_5162delinsAAGG (p.Glu1720=) c.731_734delinsAAGG (p.Glu244=) n.971_974delinsAAGG c.1387_1390delinsAAGG c.5051_5054delinsAAGG (p.Glu1684=) n.5434_5437delinsAAGG c.2240_2243delinsAAGG (p.Glu747=) n.5432_5435delinsAAGG | |
| 14 | g.91273551C>A | CA390610749 | CCDC88C | c.5161G>T (p.Gly1721Trp) c.733G>T (p.Gly245Trp) n.973G>T c.1389G>T c.5053G>T (p.Gly1685Trp) n.5436G>T c.2242G>T (p.Gly748Trp) n.5434G>T | gnomAD v4 |
| 14 | g.91273551C= | CA2154902684 | CCDC88C | c.5161G= (p.Gly1721=) c.733G= (p.Gly245=) n.973G= c.1389G= c.5053G= (p.Gly1685=) n.5436G= c.2242G= (p.Gly748=) n.5434G= | |
| 14 | g.91273551C>G | CA390610750 | CCDC88C | c.5161G>C (p.Gly1721Arg) c.733G>C (p.Gly245Arg) n.973G>C c.1389G>C c.5053G>C (p.Gly1685Arg) n.5436G>C c.2242G>C (p.Gly748Arg) n.5434G>C | |
| 14 | g.91273551C>T | CA7308720 | CCDC88C | c.5161G>A (p.Gly1721Arg) c.733G>A (p.Gly245Arg) n.973G>A c.1389G>A c.5053G>A (p.Gly1685Arg) n.5436G>A c.2242G>A (p.Gly748Arg) n.5434G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273554_91273556del | CA7308719 | CCDC88C | c.5159_5161del (p.Glu1720del) c.731_733del (p.Glu244del) n.971_973del c.1387_1389del c.5051_5053del (p.Glu1684del) n.5434_5436del c.2240_2242del (p.Glu747del) n.5432_5434del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273552T>A | CA390610751 | CCDC88C | c.5160A>T (p.Glu1720Asp) c.732A>T (p.Glu244Asp) n.972A>T c.1388A>T c.5052A>T (p.Glu1684Asp) n.5435A>T c.2241A>T (p.Glu747Asp) n.5433A>T | |
| 14 | g.91273552T>C | CA487829341 | CCDC88C | c.5160A>G (p.Glu1720=) c.732A>G (p.Glu244=) n.972A>G c.1388A>G c.5052A>G (p.Glu1684=) n.5435A>G c.2241A>G (p.Glu747=) n.5433A>G | |
| 14 | g.91273552T>G | CA390610752 | CCDC88C | c.5160A>C (p.Glu1720Asp) c.732A>C (p.Glu244Asp) n.972A>C c.1388A>C c.5052A>C (p.Glu1684Asp) n.5435A>C c.2241A>C (p.Glu747Asp) n.5433A>C | |
| 14 | g.91273553T>A | CA390610753 | CCDC88C | c.5159A>T (p.Glu1720Val) c.731A>T (p.Glu244Val) n.971A>T c.1387A>T c.5051A>T (p.Glu1684Val) n.5434A>T c.2240A>T (p.Glu747Val) n.5432A>T | |
| 14 | g.91273553T>C | CA390610754 | CCDC88C | c.5159A>G (p.Glu1720Gly) c.731A>G (p.Glu244Gly) n.971A>G c.1387A>G c.5051A>G (p.Glu1684Gly) n.5434A>G c.2240A>G (p.Glu747Gly) n.5432A>G | |
| 14 | g.91273553T>G | CA390610755 | CCDC88C | c.5159A>C (p.Glu1720Ala) c.731A>C (p.Glu244Ala) n.971A>C c.1387A>C c.5051A>C (p.Glu1684Ala) n.5434A>C c.2240A>C (p.Glu747Ala) n.5432A>C | |
| 14 | g.91273554C>A | CA390610758 | CCDC88C | c.5158G>T (p.Glu1720Ter) c.730G>T (p.Glu244Ter) n.970G>T c.1386G>T c.5050G>T (p.Glu1684Ter) n.5433G>T c.2239G>T (p.Glu747Ter) n.5431G>T | |
| 14 | g.91273554C>G | CA390610756 | CCDC88C | c.5158G>C (p.Glu1720Gln) c.730G>C (p.Glu244Gln) n.970G>C c.1386G>C c.5050G>C (p.Glu1684Gln) n.5433G>C c.2239G>C (p.Glu747Gln) n.5431G>C | |
| 14 | g.91273554C>T | CA390610757 | CCDC88C | c.5158G>A (p.Glu1720Lys) c.730G>A (p.Glu244Lys) n.970G>A c.1386G>A c.5050G>A (p.Glu1684Lys) n.5433G>A c.2239G>A (p.Glu747Lys) n.5431G>A | COSMIC COSMIC COSMIC |
| 14 | g.91273555T>A | CA390610759 | CCDC88C | c.5157A>T (p.Lys1719Asn) c.729A>T (p.Lys243Asn) n.969A>T c.1385A>T c.5049A>T (p.Lys1683Asn) n.5432A>T c.2238A>T (p.Lys746Asn) n.5430A>T | |
| 14 | g.91273555T>C | CA487829342 | CCDC88C | c.5157A>G (p.Lys1719=) c.729A>G (p.Lys243=) n.969A>G c.1385A>G c.5049A>G (p.Lys1683=) n.5432A>G c.2238A>G (p.Lys746=) n.5430A>G | gnomAD v4 |
| 14 | g.91273555T>G | CA390610760 | CCDC88C | c.5157A>C (p.Lys1719Asn) c.729A>C (p.Lys243Asn) n.969A>C c.1385A>C c.5049A>C (p.Lys1683Asn) n.5432A>C c.2238A>C (p.Lys746Asn) n.5430A>C | |
| 14 | g.91273556T>A | CA390610761 | CCDC88C | c.5156A>T (p.Lys1719Ile) c.728A>T (p.Lys243Ile) n.968A>T c.1384A>T c.5048A>T (p.Lys1683Ile) n.5431A>T c.2237A>T (p.Lys746Ile) n.5429A>T | |
| 14 | g.91273556T>C | CA390610762 | CCDC88C | c.5156A>G (p.Lys1719Arg) c.728A>G (p.Lys243Arg) n.968A>G c.1384A>G c.5048A>G (p.Lys1683Arg) n.5431A>G c.2237A>G (p.Lys746Arg) n.5429A>G | |
| 14 | g.91273556T>G | CA390610763 | CCDC88C | c.5156A>C (p.Lys1719Thr) c.728A>C (p.Lys243Thr) n.968A>C c.1384A>C c.5048A>C (p.Lys1683Thr) n.5431A>C c.2237A>C (p.Lys746Thr) n.5429A>C | COSMIC COSMIC COSMIC |
| 14 | g.91273557T>A | CA390610764 | CCDC88C | c.5155A>T (p.Lys1719Ter) c.727A>T (p.Lys243Ter) n.967A>T c.1383A>T c.5047A>T (p.Lys1683Ter) n.5430A>T c.2236A>T (p.Lys746Ter) n.5428A>T | |
| 14 | g.91273557T>C | CA390610765 | CCDC88C | c.5155A>G (p.Lys1719Glu) c.727A>G (p.Lys243Glu) n.967A>G c.1383A>G c.5047A>G (p.Lys1683Glu) n.5430A>G c.2236A>G (p.Lys746Glu) n.5428A>G | |
| 14 | g.91273557T>G | CA390610766 | CCDC88C | c.5155A>C (p.Lys1719Gln) c.727A>C (p.Lys243Gln) n.967A>C c.1383A>C c.5047A>C (p.Lys1683Gln) n.5430A>C c.2236A>C (p.Lys746Gln) n.5428A>C | gnomAD v4 |
| 14 | g.91273558C>A | CA390610767 | CCDC88C | c.5154G>T (p.Lys1718Asn) c.726G>T (p.Lys242Asn) n.966G>T c.1382G>T c.5046G>T (p.Lys1682Asn) n.5429G>T c.2235G>T (p.Lys745Asn) n.5427G>T | |
| 14 | g.91273558C>G | CA390610768 | CCDC88C | c.5154G>C (p.Lys1718Asn) c.726G>C (p.Lys242Asn) n.966G>C c.1382G>C c.5046G>C (p.Lys1682Asn) n.5429G>C c.2235G>C (p.Lys745Asn) n.5427G>C | |
| 14 | g.91273558C>T | CA487829343 | CCDC88C | c.5154G>A (p.Lys1718=) c.726G>A (p.Lys242=) n.966G>A c.1382G>A c.5046G>A (p.Lys1682=) n.5429G>A c.2235G>A (p.Lys745=) n.5427G>A | |
| 14 | g.91273559T>A | CA390610769 | CCDC88C | c.5153A>T (p.Lys1718Met) c.725A>T (p.Lys242Met) n.965A>T c.1381A>T c.5045A>T (p.Lys1682Met) n.5428A>T c.2234A>T (p.Lys745Met) n.5426A>T | |
| 14 | g.91273559T>C | CA390610770 | CCDC88C | c.5153A>G (p.Lys1718Arg) c.725A>G (p.Lys242Arg) n.965A>G c.1381A>G c.5045A>G (p.Lys1682Arg) n.5428A>G c.2234A>G (p.Lys745Arg) n.5426A>G | gnomAD v4 |
| 14 | g.91273559T>G | CA390610771 | CCDC88C | c.5153A>C (p.Lys1718Thr) c.725A>C (p.Lys242Thr) n.965A>C c.1381A>C c.5045A>C (p.Lys1682Thr) n.5428A>C c.2234A>C (p.Lys745Thr) n.5426A>C | gnomAD v4 |
| 14 | g.91273560T>A | CA390610773 | CCDC88C | c.5152A>T (p.Lys1718Ter) c.724A>T (p.Lys242Ter) n.964A>T c.1380A>T c.5044A>T (p.Lys1682Ter) n.5427A>T c.2233A>T (p.Lys745Ter) n.5425A>T | |
| 14 | g.91273560T>C | CA390610774 | CCDC88C | c.5152A>G (p.Lys1718Glu) c.724A>G (p.Lys242Glu) n.964A>G c.1380A>G c.5044A>G (p.Lys1682Glu) n.5427A>G c.2233A>G (p.Lys745Glu) n.5425A>G | |
| 14 | g.91273560T>G | CA390610772 | CCDC88C | c.5152A>C (p.Lys1718Gln) c.724A>C (p.Lys242Gln) n.964A>C c.1380A>C c.5044A>C (p.Lys1682Gln) n.5427A>C c.2233A>C (p.Lys745Gln) n.5425A>C | |
| 14 | g.91273561G>A | CA487829346 | CCDC88C | c.5151C>T (p.Ala1717=) c.723C>T (p.Ala241=) n.963C>T c.1379C>T c.5043C>T (p.Ala1681=) n.5426C>T c.2232C>T (p.Ala744=) n.5424C>T | ClinVar dbSNP |
| 14 | g.91273561G>C | CA487829345 | CCDC88C | c.5151C>G (p.Ala1717=) c.723C>G (p.Ala241=) n.963C>G c.1379C>G c.5043C>G (p.Ala1681=) n.5426C>G c.2232C>G (p.Ala744=) n.5424C>G | |
| 14 | g.91273561G= | CA2154902693 | CCDC88C | c.5151C= (p.Ala1717=) c.723C= (p.Ala241=) n.963C= c.1379C= c.5043C= (p.Ala1681=) n.5426C= c.2232C= (p.Ala744=) n.5424C= | |
| 14 | g.91273561G>T | CA487829344 | CCDC88C | c.5151C>A (p.Ala1717=) c.723C>A (p.Ala241=) n.963C>A c.1379C>A c.5043C>A (p.Ala1681=) n.5426C>A c.2232C>A (p.Ala744=) n.5424C>A | gnomAD v4 |
| 14 | g.91273562G>A | CA7308721 | CCDC88C | c.5150C>T (p.Ala1717Val) c.722C>T (p.Ala241Val) n.962C>T c.1378C>T c.5042C>T (p.Ala1681Val) n.5425C>T c.2231C>T (p.Ala744Val) n.5423C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273562G>C | CA390610775 | CCDC88C | c.5150C>G (p.Ala1717Gly) c.722C>G (p.Ala241Gly) n.962C>G c.1378C>G c.5042C>G (p.Ala1681Gly) n.5425C>G c.2231C>G (p.Ala744Gly) n.5423C>G | |
| 14 | g.91273562G= | CA2154902697 | CCDC88C | c.5150C= (p.Ala1717=) c.722C= (p.Ala241=) n.962C= c.1378C= c.5042C= (p.Ala1681=) n.5425C= c.2231C= (p.Ala744=) n.5423C= | |
| 14 | g.91273562G>T | CA390610776 | CCDC88C | c.5150C>A (p.Ala1717Asp) c.722C>A (p.Ala241Asp) n.962C>A c.1378C>A c.5042C>A (p.Ala1681Asp) n.5425C>A c.2231C>A (p.Ala744Asp) n.5423C>A | |
| 14 | g.91273563C>A | CA390610777 | CCDC88C | c.5149G>T (p.Ala1717Ser) c.721G>T (p.Ala241Ser) n.961G>T c.1377G>T c.5041G>T (p.Ala1681Ser) n.5424G>T c.2230G>T (p.Ala744Ser) n.5422G>T | gnomAD v4 |
| 14 | g.91273563C= | CA2154902701 | CCDC88C | c.5149G= (p.Ala1717=) c.721G= (p.Ala241=) n.961G= c.1377G= c.5041G= (p.Ala1681=) n.5424G= c.2230G= (p.Ala744=) n.5422G= | |
| 14 | g.91273563C>G | CA390610778 | CCDC88C | c.5149G>C (p.Ala1717Pro) c.721G>C (p.Ala241Pro) n.961G>C c.1377G>C c.5041G>C (p.Ala1681Pro) n.5424G>C c.2230G>C (p.Ala744Pro) n.5422G>C | |
| 14 | g.91273563C>T | CA390610779 | CCDC88C | c.5149G>A (p.Ala1717Thr) c.721G>A (p.Ala241Thr) n.961G>A c.1377G>A c.5041G>A (p.Ala1681Thr) n.5424G>A c.2230G>A (p.Ala744Thr) n.5422G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91273564A>C | CA487829347 | CCDC88C | c.5148T>G (p.Pro1716=) c.720T>G (p.Pro240=) n.960T>G c.1376T>G c.5040T>G (p.Pro1680=) n.5423T>G c.2229T>G (p.Pro743=) n.5421T>G | gnomAD v4 |
| 14 | g.91273564A>G | CA487829348 | CCDC88C | c.5148T>C (p.Pro1716=) c.720T>C (p.Pro240=) n.960T>C c.1376T>C c.5040T>C (p.Pro1680=) n.5423T>C c.2229T>C (p.Pro743=) n.5421T>C | |
| 14 | g.91273564A>T | CA487829349 | CCDC88C | c.5148T>A (p.Pro1716=) c.720T>A (p.Pro240=) n.960T>A c.1376T>A c.5040T>A (p.Pro1680=) n.5423T>A c.2229T>A (p.Pro743=) n.5421T>A | |
| 14 | g.91273565G>A | CA7308722 | CCDC88C | c.5147C>T (p.Pro1716Leu) c.719C>T (p.Pro240Leu) n.959C>T c.1375C>T c.5039C>T (p.Pro1680Leu) n.5422C>T c.2228C>T (p.Pro743Leu) n.5420C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273565G>C | CA390610780 | CCDC88C | c.5147C>G (p.Pro1716Arg) c.719C>G (p.Pro240Arg) n.959C>G c.1375C>G c.5039C>G (p.Pro1680Arg) n.5422C>G c.2228C>G (p.Pro743Arg) n.5420C>G | |
| 14 | g.91273565G= | CA2154902705 | CCDC88C | c.5147C= (p.Pro1716=) c.719C= (p.Pro240=) n.959C= c.1375C= c.5039C= (p.Pro1680=) n.5422C= c.2228C= (p.Pro743=) n.5420C= | |
| 14 | g.91273565G>T | CA390610781 | CCDC88C | c.5147C>A (p.Pro1716His) c.719C>A (p.Pro240His) n.959C>A c.1375C>A c.5039C>A (p.Pro1680His) n.5422C>A c.2228C>A (p.Pro743His) n.5420C>A | |
| 14 | g.91273566G>A | CA390610784 | CCDC88C | c.5146C>T (p.Pro1716Ser) c.718C>T (p.Pro240Ser) n.958C>T c.1374C>T c.5038C>T (p.Pro1680Ser) n.5421C>T c.2227C>T (p.Pro743Ser) n.5419C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273566G>C | CA390610783 | CCDC88C | c.5146C>G (p.Pro1716Ala) c.718C>G (p.Pro240Ala) n.958C>G c.1374C>G c.5038C>G (p.Pro1680Ala) n.5421C>G c.2227C>G (p.Pro743Ala) n.5419C>G | |
| 14 | g.91273566G= | CA2154902707 | CCDC88C | c.5146C= (p.Pro1716=) c.718C= (p.Pro240=) n.958C= c.1374C= c.5038C= (p.Pro1680=) n.5421C= c.2227C= (p.Pro743=) n.5419C= | |
| 14 | g.91273566G>T | CA390610782 | CCDC88C | c.5146C>A (p.Pro1716Thr) c.718C>A (p.Pro240Thr) n.958C>A c.1374C>A c.5038C>A (p.Pro1680Thr) n.5421C>A c.2227C>A (p.Pro743Thr) n.5419C>A | |
| 14 | g.91273567T>A | CA487829351 | CCDC88C | c.5145A>T (p.Pro1715=) c.717A>T (p.Pro239=) n.957A>T c.1373A>T c.5037A>T (p.Pro1679=) n.5420A>T c.2226A>T (p.Pro742=) n.5418A>T | |
| 14 | g.91273567T>C | CA487829350 | CCDC88C | c.5145A>G (p.Pro1715=) c.717A>G (p.Pro239=) n.957A>G c.1373A>G c.5037A>G (p.Pro1679=) n.5420A>G c.2226A>G (p.Pro742=) n.5418A>G | |
| 14 | g.91273567T>G | CA7308723 | CCDC88C | c.5145A>C (p.Pro1715=) c.717A>C (p.Pro239=) n.957A>C c.1373A>C c.5037A>C (p.Pro1679=) n.5420A>C c.2226A>C (p.Pro742=) n.5418A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273567T= | CA2154902710 | CCDC88C | c.5145A= (p.Pro1715=) c.717A= (p.Pro239=) n.957A= c.1373A= c.5037A= (p.Pro1679=) n.5420A= c.2226A= (p.Pro742=) n.5418A= | |
| 14 | g.91273568G>A | CA390610785 | CCDC88C | c.5144C>T (p.Pro1715Leu) c.716C>T (p.Pro239Leu) n.956C>T c.1372C>T c.5036C>T (p.Pro1679Leu) n.5419C>T c.2225C>T (p.Pro742Leu) n.5417C>T | gnomAD v4 |
| 14 | g.91273568G>C | CA390610786 | CCDC88C | c.5144C>G (p.Pro1715Arg) c.716C>G (p.Pro239Arg) n.956C>G c.1372C>G c.5036C>G (p.Pro1679Arg) n.5419C>G c.2225C>G (p.Pro742Arg) n.5417C>G | gnomAD v4 |
| 14 | g.91273568G>T | CA390610787 | CCDC88C | c.5144C>A (p.Pro1715Gln) c.716C>A (p.Pro239Gln) n.956C>A c.1372C>A c.5036C>A (p.Pro1679Gln) n.5419C>A c.2225C>A (p.Pro742Gln) n.5417C>A | gnomAD v4 |
| 14 | g.91273569G>A | CA390610788 | CCDC88C | c.5143C>T (p.Pro1715Ser) c.715C>T (p.Pro239Ser) n.955C>T c.1371C>T c.5035C>T (p.Pro1679Ser) n.5418C>T c.2224C>T (p.Pro742Ser) n.5416C>T | |
| 14 | g.91273569G>C | CA390610789 | CCDC88C | c.5143C>G (p.Pro1715Ala) c.715C>G (p.Pro239Ala) n.955C>G c.1371C>G c.5035C>G (p.Pro1679Ala) n.5418C>G c.2224C>G (p.Pro742Ala) n.5416C>G | |
| 14 | g.91273569G>T | CA390610790 | CCDC88C | c.5143C>A (p.Pro1715Thr) c.715C>A (p.Pro239Thr) n.955C>A c.1371C>A c.5035C>A (p.Pro1679Thr) n.5418C>A c.2224C>A (p.Pro742Thr) n.5416C>A | |
| 14 | g.91273570T>A | CA487829352 | CCDC88C | c.5142A>T (p.Gly1714=) c.714A>T (p.Gly238=) n.954A>T c.1370A>T c.5034A>T (p.Gly1678=) n.5417A>T c.2223A>T (p.Gly741=) n.5415A>T | |
| 14 | g.91273570T>C | CA487829353 | CCDC88C | c.5142A>G (p.Gly1714=) c.714A>G (p.Gly238=) n.954A>G c.1370A>G c.5034A>G (p.Gly1678=) n.5417A>G c.2223A>G (p.Gly741=) n.5415A>G | gnomAD v4 |
| 14 | g.91273570T>G | CA487829354 | CCDC88C | c.5142A>C (p.Gly1714=) c.714A>C (p.Gly238=) n.954A>C c.1370A>C c.5034A>C (p.Gly1678=) n.5417A>C c.2223A>C (p.Gly741=) n.5415A>C | dbSNP |
| 14 | g.91273570T= | CA2154902713 | CCDC88C | c.5142A= (p.Gly1714=) c.714A= (p.Gly238=) n.954A= c.1370A= c.5034A= (p.Gly1678=) n.5417A= c.2223A= (p.Gly741=) n.5415A= | |
| 14 | g.91273571C>A | CA390610791 | CCDC88C | c.5141G>T (p.Gly1714Val) c.713G>T (p.Gly238Val) n.953G>T c.1369G>T c.5033G>T (p.Gly1678Val) n.5416G>T c.2222G>T (p.Gly741Val) n.5414G>T | |
| 14 | g.91273571C= | CA2154902714 | CCDC88C | c.5141G= (p.Gly1714=) c.713G= (p.Gly238=) n.953G= c.1369G= c.5033G= (p.Gly1678=) n.5416G= c.2222G= (p.Gly741=) n.5414G= | |
| 14 | g.91273571C>G | CA390610792 | CCDC88C | c.5141G>C (p.Gly1714Ala) c.713G>C (p.Gly238Ala) n.953G>C c.1369G>C c.5033G>C (p.Gly1678Ala) n.5416G>C c.2222G>C (p.Gly741Ala) n.5414G>C | |
| 14 | g.91273571C>T | CA265518576 | CCDC88C | c.5141G>A (p.Gly1714Glu) c.713G>A (p.Gly238Glu) n.953G>A c.1369G>A c.5033G>A (p.Gly1678Glu) n.5416G>A c.2222G>A (p.Gly741Glu) n.5414G>A | dbSNP gnomAD v4 |
| 14 | g.91273572C>A | CA390610793 | CCDC88C | c.5140G>T (p.Gly1714Ter) c.712G>T (p.Gly238Ter) n.952G>T c.1368G>T c.5032G>T (p.Gly1678Ter) n.5415G>T c.2221G>T (p.Gly741Ter) n.5413G>T | gnomAD v4 |
| 14 | g.91273572C>G | CA390610794 | CCDC88C | c.5140G>C (p.Gly1714Arg) c.712G>C (p.Gly238Arg) n.952G>C c.1368G>C c.5032G>C (p.Gly1678Arg) n.5415G>C c.2221G>C (p.Gly741Arg) n.5413G>C | |
| 14 | g.91273572C>T | CA390610795 | CCDC88C | c.5140G>A (p.Gly1714Arg) c.712G>A (p.Gly238Arg) n.952G>A c.1368G>A c.5032G>A (p.Gly1678Arg) n.5415G>A c.2221G>A (p.Gly741Arg) n.5413G>A | |
| 14 | g.91273573T>A | CA487829355 | CCDC88C | c.5139A>T (p.Pro1713=) c.711A>T (p.Pro237=) n.951A>T c.1367A>T c.5031A>T (p.Pro1677=) n.5414A>T c.2220A>T (p.Pro740=) n.5412A>T | |
| 14 | g.91273573T>C | CA7308724 | CCDC88C | c.5139A>G (p.Pro1713=) c.711A>G (p.Pro237=) n.951A>G c.1367A>G c.5031A>G (p.Pro1677=) n.5414A>G c.2220A>G (p.Pro740=) n.5412A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273573T>G | CA487829356 | CCDC88C | c.5139A>C (p.Pro1713=) c.711A>C (p.Pro237=) n.951A>C c.1367A>C c.5031A>C (p.Pro1677=) n.5414A>C c.2220A>C (p.Pro740=) n.5412A>C | |
| 14 | g.91273573T= | CA2154902716 | CCDC88C | c.5139A= (p.Pro1713=) c.711A= (p.Pro237=) n.951A= c.1367A= c.5031A= (p.Pro1677=) n.5414A= c.2220A= (p.Pro740=) n.5412A= | |
| 14 | g.91273574G>A | CA390610796 | CCDC88C | c.5138C>T (p.Pro1713Leu) c.710C>T (p.Pro237Leu) n.950C>T c.1366C>T c.5030C>T (p.Pro1677Leu) n.5413C>T c.2219C>T (p.Pro740Leu) n.5411C>T | |
| 14 | g.91273574G>C | CA390610797 | CCDC88C | c.5138C>G (p.Pro1713Arg) c.710C>G (p.Pro237Arg) n.950C>G c.1366C>G c.5030C>G (p.Pro1677Arg) n.5413C>G c.2219C>G (p.Pro740Arg) n.5411C>G | |
| 14 | g.91273574G>T | CA390610798 | CCDC88C | c.5138C>A (p.Pro1713Gln) c.710C>A (p.Pro237Gln) n.950C>A c.1366C>A c.5030C>A (p.Pro1677Gln) n.5413C>A c.2219C>A (p.Pro740Gln) n.5411C>A | gnomAD v4 |
| 14 | g.91273575G>A | CA390610799 | CCDC88C | c.5137C>T (p.Pro1713Ser) c.709C>T (p.Pro237Ser) n.949C>T c.1365C>T c.5029C>T (p.Pro1677Ser) n.5412C>T c.2218C>T (p.Pro740Ser) n.5410C>T | gnomAD v4 |
| 14 | g.91273575G>C | CA390610800 | CCDC88C | c.5137C>G (p.Pro1713Ala) c.709C>G (p.Pro237Ala) n.949C>G c.1365C>G c.5029C>G (p.Pro1677Ala) n.5412C>G c.2218C>G (p.Pro740Ala) n.5410C>G | |
| 14 | g.91273575G>T | CA390610801 | CCDC88C | c.5137C>A (p.Pro1713Thr) c.709C>A (p.Pro237Thr) n.949C>A c.1365C>A c.5029C>A (p.Pro1677Thr) n.5412C>A c.2218C>A (p.Pro740Thr) n.5410C>A | |
| 14 | g.91273576T>A | CA390610802 | CCDC88C | c.5136A>T (p.Gln1712His) c.708A>T (p.Gln236His) n.948A>T c.1364A>T c.5028A>T (p.Gln1676His) n.5411A>T c.2217A>T (p.Gln739His) n.5409A>T | |
| 14 | g.91273576T>C | CA487829357 | CCDC88C | c.5136A>G (p.Gln1712=) c.708A>G (p.Gln236=) n.948A>G c.1364A>G c.5028A>G (p.Gln1676=) n.5411A>G c.2217A>G (p.Gln739=) n.5409A>G | |
| 14 | g.91273576T>G | CA390610803 | CCDC88C | c.5136A>C (p.Gln1712His) c.708A>C (p.Gln236His) n.948A>C c.1364A>C c.5028A>C (p.Gln1676His) n.5411A>C c.2217A>C (p.Gln739His) n.5409A>C | |
| 14 | g.91273577T>A | CA390610806 | CCDC88C | c.5135A>T (p.Gln1712Leu) c.707A>T (p.Gln236Leu) n.947A>T c.1363A>T c.5027A>T (p.Gln1676Leu) n.5410A>T c.2216A>T (p.Gln739Leu) n.5408A>T | gnomAD v4 |
| 14 | g.91273577T>C | CA390610804 | CCDC88C | c.5135A>G (p.Gln1712Arg) c.707A>G (p.Gln236Arg) n.947A>G c.1363A>G c.5027A>G (p.Gln1676Arg) n.5410A>G c.2216A>G (p.Gln739Arg) n.5408A>G | |
| 14 | g.91273577T>G | CA390610805 | CCDC88C | c.5135A>C (p.Gln1712Pro) c.707A>C (p.Gln236Pro) n.947A>C c.1363A>C c.5027A>C (p.Gln1676Pro) n.5410A>C c.2216A>C (p.Gln739Pro) n.5408A>C | |
| 14 | g.91273578G>A | CA390610807 | CCDC88C | c.5134C>T (p.Gln1712Ter) c.706C>T (p.Gln236Ter) n.946C>T c.1362C>T c.5026C>T (p.Gln1676Ter) n.5409C>T c.2215C>T (p.Gln739Ter) n.5407C>T | ClinVar dbSNP |
| 14 | g.91273578G>C | CA390610809 | CCDC88C | c.5134C>G (p.Gln1712Glu) c.706C>G (p.Gln236Glu) n.946C>G c.1362C>G c.5026C>G (p.Gln1676Glu) n.5409C>G c.2215C>G (p.Gln739Glu) n.5407C>G | |
| 14 | g.91273578G= | CA2154902721 | CCDC88C | c.5134C= (p.Gln1712=) c.706C= (p.Gln236=) n.946C= c.1362C= c.5026C= (p.Gln1676=) n.5409C= c.2215C= (p.Gln739=) n.5407C= | |
| 14 | g.91273578G>T | CA390610808 | CCDC88C | c.5134C>A (p.Gln1712Lys) c.706C>A (p.Gln236Lys) n.946C>A c.1362C>A c.5026C>A (p.Gln1676Lys) n.5409C>A c.2215C>A (p.Gln739Lys) n.5407C>A | |
| 14 | g.91273579G>A | CA487829358 | CCDC88C | c.5133C>T (p.Gly1711=) c.705C>T (p.Gly235=) n.945C>T c.1361C>T c.5025C>T (p.Gly1675=) n.5408C>T c.2214C>T (p.Gly738=) n.5406C>T | gnomAD v4 |
| 14 | g.91273579G>C | CA487829359 | CCDC88C | c.5133C>G (p.Gly1711=) c.705C>G (p.Gly235=) n.945C>G c.1361C>G c.5025C>G (p.Gly1675=) n.5408C>G c.2214C>G (p.Gly738=) n.5406C>G | |
| 14 | g.91273579G>T | CA487829360 | CCDC88C | c.5133C>A (p.Gly1711=) c.705C>A (p.Gly235=) n.945C>A c.1361C>A c.5025C>A (p.Gly1675=) n.5408C>A c.2214C>A (p.Gly738=) n.5406C>A | |
| 14 | g.91273580C>A | CA390610810 | CCDC88C | c.5132G>T (p.Gly1711Val) c.704G>T (p.Gly235Val) n.944G>T c.1360G>T c.5024G>T (p.Gly1675Val) n.5407G>T c.2213G>T (p.Gly738Val) n.5405G>T | |
| 14 | g.91273580C= | CA2154902726 | CCDC88C | c.5132G= (p.Gly1711=) c.704G= (p.Gly235=) n.944G= c.1360G= c.5024G= (p.Gly1675=) n.5407G= c.2213G= (p.Gly738=) n.5405G= | |
| 14 | g.91273580C>G | CA390610811 | CCDC88C | c.5132G>C (p.Gly1711Ala) c.704G>C (p.Gly235Ala) n.944G>C c.1360G>C c.5024G>C (p.Gly1675Ala) n.5407G>C c.2213G>C (p.Gly738Ala) n.5405G>C | |
| 14 | g.91273580C>T | CA390610812 | CCDC88C | c.5132G>A (p.Gly1711Asp) c.704G>A (p.Gly235Asp) n.944G>A c.1360G>A c.5024G>A (p.Gly1675Asp) n.5407G>A c.2213G>A (p.Gly738Asp) n.5405G>A | dbSNP gnomAD v4 |
| 14 | g.91273581C>A | CA390610813 | CCDC88C | c.5131G>T (p.Gly1711Cys) c.703G>T (p.Gly235Cys) n.943G>T c.1359G>T c.5023G>T (p.Gly1675Cys) n.5406G>T c.2212G>T (p.Gly738Cys) n.5404G>T | gnomAD v4 |
| 14 | g.91273581C>G | CA390610814 | CCDC88C | c.5131G>C (p.Gly1711Arg) c.703G>C (p.Gly235Arg) n.943G>C c.1359G>C c.5023G>C (p.Gly1675Arg) n.5406G>C c.2212G>C (p.Gly738Arg) n.5404G>C | |
| 14 | g.91273581C>T | CA390610815 | CCDC88C | c.5131G>A (p.Gly1711Ser) c.703G>A (p.Gly235Ser) n.943G>A c.1359G>A c.5023G>A (p.Gly1675Ser) n.5406G>A c.2212G>A (p.Gly738Ser) n.5404G>A | gnomAD v4 |
| 14 | g.91273582T>A | CA487829361 | CCDC88C | c.5130A>T (p.Gly1710=) c.702A>T (p.Gly234=) n.942A>T c.1358A>T c.5022A>T (p.Gly1674=) n.5405A>T c.2211A>T (p.Gly737=) n.5403A>T | |
| 14 | g.91273582T>C | CA487829362 | CCDC88C | c.5130A>G (p.Gly1710=) c.702A>G (p.Gly234=) n.942A>G c.1358A>G c.5022A>G (p.Gly1674=) n.5405A>G c.2211A>G (p.Gly737=) n.5403A>G | gnomAD v4 |
| 14 | g.91273582T>G | CA487829363 | CCDC88C | c.5130A>C (p.Gly1710=) c.702A>C (p.Gly234=) n.942A>C c.1358A>C c.5022A>C (p.Gly1674=) n.5405A>C c.2211A>C (p.Gly737=) n.5403A>C | |
| 14 | g.91273583C>A | CA390610816 | CCDC88C | c.5129G>T (p.Gly1710Val) c.701G>T (p.Gly234Val) n.941G>T c.1357G>T c.5021G>T (p.Gly1674Val) n.5404G>T c.2210G>T (p.Gly737Val) n.5402G>T | |
| 14 | g.91273583C>G | CA390610817 | CCDC88C | c.5129G>C (p.Gly1710Ala) c.701G>C (p.Gly234Ala) n.941G>C c.1357G>C c.5021G>C (p.Gly1674Ala) n.5404G>C c.2210G>C (p.Gly737Ala) n.5402G>C | |
| 14 | g.91273583C>T | CA390610818 | CCDC88C | c.5129G>A (p.Gly1710Glu) c.701G>A (p.Gly234Glu) n.941G>A c.1357G>A c.5021G>A (p.Gly1674Glu) n.5404G>A c.2210G>A (p.Gly737Glu) n.5402G>A | COSMIC COSMIC COSMIC |
| 14 | g.91273584C>A | CA390610819 | CCDC88C | c.5128G>T (p.Gly1710Ter) c.700G>T (p.Gly234Ter) n.940G>T c.1356G>T c.5020G>T (p.Gly1674Ter) n.5403G>T c.2209G>T (p.Gly737Ter) n.5401G>T | |
| 14 | g.91273584C= | CA2154902729 | CCDC88C | c.5128G= (p.Gly1710=) c.700G= (p.Gly234=) n.940G= c.1356G= c.5020G= (p.Gly1674=) n.5403G= c.2209G= (p.Gly737=) n.5401G= | |
| 14 | g.91273584C>G | CA390610820 | CCDC88C | c.5128G>C (p.Gly1710Arg) c.700G>C (p.Gly234Arg) n.940G>C c.1356G>C c.5020G>C (p.Gly1674Arg) n.5403G>C c.2209G>C (p.Gly737Arg) n.5401G>C | |
| 14 | g.91273584C>T | CA7308725 | CCDC88C | c.5128G>A (p.Gly1710Arg) c.700G>A (p.Gly234Arg) n.940G>A c.1356G>A c.5020G>A (p.Gly1674Arg) n.5403G>A c.2209G>A (p.Gly737Arg) n.5401G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273585G>A | CA7308726 | CCDC88C | c.5127C>T (p.Ile1709=) c.699C>T (p.Ile233=) n.939C>T c.1355C>T c.5019C>T (p.Ile1673=) n.5402C>T c.2208C>T (p.Ile736=) n.5400C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273585G>C | CA390610821 | CCDC88C | c.5127C>G (p.Ile1709Met) c.699C>G (p.Ile233Met) n.939C>G c.1355C>G c.5019C>G (p.Ile1673Met) n.5402C>G c.2208C>G (p.Ile736Met) n.5400C>G | dbSNP |
| 14 | g.91273585G= | CA2154902734 | CCDC88C | c.5127C= (p.Ile1709=) c.699C= (p.Ile233=) n.939C= c.1355C= c.5019C= (p.Ile1673=) n.5402C= c.2208C= (p.Ile736=) n.5400C= | |
| 14 | g.91273585G>T | CA487829364 | CCDC88C | c.5127C>A (p.Ile1709=) c.699C>A (p.Ile233=) n.939C>A c.1355C>A c.5019C>A (p.Ile1673=) n.5402C>A c.2208C>A (p.Ile736=) n.5400C>A | |
| 14 | g.91273586A>C | CA390610822 | CCDC88C | c.5126T>G (p.Ile1709Ser) c.698T>G (p.Ile233Ser) n.938T>G c.1354T>G c.5018T>G (p.Ile1673Ser) n.5401T>G c.2207T>G (p.Ile736Ser) n.5399T>G | |
| 14 | g.91273586A>G | CA390610823 | CCDC88C | c.5126T>C (p.Ile1709Thr) c.698T>C (p.Ile233Thr) n.938T>C c.1354T>C c.5018T>C (p.Ile1673Thr) n.5401T>C c.2207T>C (p.Ile736Thr) n.5399T>C | |
| 14 | g.91273586A>T | CA390610824 | CCDC88C | c.5126T>A (p.Ile1709Asn) c.698T>A (p.Ile233Asn) n.938T>A c.1354T>A c.5018T>A (p.Ile1673Asn) n.5401T>A c.2207T>A (p.Ile736Asn) n.5399T>A | |
| 14 | g.91273587T>A | CA390610825 | CCDC88C | c.5125A>T (p.Ile1709Phe) c.697A>T (p.Ile233Phe) n.937A>T c.1353A>T c.5017A>T (p.Ile1673Phe) n.5400A>T c.2206A>T (p.Ile736Phe) n.5398A>T | |
| 14 | g.91273587T>C | CA390610826 | CCDC88C | c.5125A>G (p.Ile1709Val) c.697A>G (p.Ile233Val) n.937A>G c.1353A>G c.5017A>G (p.Ile1673Val) n.5400A>G c.2206A>G (p.Ile736Val) n.5398A>G | dbSNP gnomAD v4 |
| 14 | g.91273587T>G | CA390610827 | CCDC88C | c.5125A>C (p.Ile1709Leu) c.697A>C (p.Ile233Leu) n.937A>C c.1353A>C c.5017A>C (p.Ile1673Leu) n.5400A>C c.2206A>C (p.Ile736Leu) n.5398A>C | |
| 14 | g.91273587T= | CA2154902736 | CCDC88C | c.5125A= (p.Ile1709=) c.697A= (p.Ile233=) n.937A= c.1353A= c.5017A= (p.Ile1673=) n.5400A= c.2206A= (p.Ile736=) n.5398A= | |
| 14 | g.91273588G>A | CA487829365 | CCDC88C | c.5124C>T (p.Ala1708=) c.696C>T (p.Ala232=) n.936C>T c.1352C>T c.5016C>T (p.Ala1672=) n.5399C>T c.2205C>T (p.Ala735=) n.5397C>T | gnomAD v4 |
| 14 | g.91273588G>C | CA487829366 | CCDC88C | c.5124C>G (p.Ala1708=) c.696C>G (p.Ala232=) n.936C>G c.1352C>G c.5016C>G (p.Ala1672=) n.5399C>G c.2205C>G (p.Ala735=) n.5397C>G | gnomAD v4 |
| 14 | g.91273588G>T | CA487829367 | CCDC88C | c.5124C>A (p.Ala1708=) c.696C>A (p.Ala232=) n.936C>A c.1352C>A c.5016C>A (p.Ala1672=) n.5399C>A c.2205C>A (p.Ala735=) n.5397C>A | |
| 14 | g.91273589G>A | CA390610828 | CCDC88C | c.5123C>T (p.Ala1708Val) c.695C>T (p.Ala232Val) n.935C>T c.1351C>T c.5015C>T (p.Ala1672Val) n.5398C>T c.2204C>T (p.Ala735Val) n.5396C>T | gnomAD v4 |
| 14 | g.91273589G>C | CA390610829 | CCDC88C | c.5123C>G (p.Ala1708Gly) c.695C>G (p.Ala232Gly) n.935C>G c.1351C>G c.5015C>G (p.Ala1672Gly) n.5398C>G c.2204C>G (p.Ala735Gly) n.5396C>G | |
| 14 | g.91273589G= | CA2154902737 | CCDC88C | c.5123C= (p.Ala1708=) c.695C= (p.Ala232=) n.935C= c.1351C= c.5015C= (p.Ala1672=) n.5398C= c.2204C= (p.Ala735=) n.5396C= | |
| 14 | g.91273589G>T | CA390610830 | CCDC88C | c.5123C>A (p.Ala1708Asp) c.695C>A (p.Ala232Asp) n.935C>A c.1351C>A c.5015C>A (p.Ala1672Asp) n.5398C>A c.2204C>A (p.Ala735Asp) n.5396C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273590C>A | CA390610831 | CCDC88C | c.5122G>T (p.Ala1708Ser) c.694G>T (p.Ala232Ser) n.934G>T c.1350G>T c.5014G>T (p.Ala1672Ser) n.5397G>T c.2203G>T (p.Ala735Ser) n.5395G>T | gnomAD v4 |
| 14 | g.91273590C>G | CA390610832 | CCDC88C | c.5122G>C (p.Ala1708Pro) c.694G>C (p.Ala232Pro) n.934G>C c.1350G>C c.5014G>C (p.Ala1672Pro) n.5397G>C c.2203G>C (p.Ala735Pro) n.5395G>C | |
| 14 | g.91273590C>T | CA390610833 | CCDC88C | c.5122G>A (p.Ala1708Thr) c.694G>A (p.Ala232Thr) n.934G>A c.1350G>A c.5014G>A (p.Ala1672Thr) n.5397G>A c.2203G>A (p.Ala735Thr) n.5395G>A | |
| 14 | g.91273591T>A | CA487829368 | CCDC88C | c.5121A>T (p.Pro1707=) c.693A>T (p.Pro231=) n.933A>T c.1349A>T c.5013A>T (p.Pro1671=) n.5396A>T c.2202A>T (p.Pro734=) n.5394A>T | |
| 14 | g.91273591T>C | CA487829369 | CCDC88C | c.5121A>G (p.Pro1707=) c.693A>G (p.Pro231=) n.933A>G c.1349A>G c.5013A>G (p.Pro1671=) n.5396A>G c.2202A>G (p.Pro734=) n.5394A>G | |
| 14 | g.91273591T>G | CA487829370 | CCDC88C | c.5121A>C (p.Pro1707=) c.693A>C (p.Pro231=) n.933A>C c.1349A>C c.5013A>C (p.Pro1671=) n.5396A>C c.2202A>C (p.Pro734=) n.5394A>C | |
| 14 | g.91273591T= | CA2154902739 | CCDC88C | c.5121A= (p.Pro1707=) c.693A= (p.Pro231=) n.933A= c.1349A= c.5013A= (p.Pro1671=) n.5396A= c.2202A= (p.Pro734=) n.5394A= | |
| 14 | g.91273592G>A | CA390610835 | CCDC88C | c.5120C>T (p.Pro1707Leu) c.692C>T (p.Pro231Leu) n.932C>T c.1348C>T c.5012C>T (p.Pro1671Leu) n.5395C>T c.2201C>T (p.Pro734Leu) n.5393C>T | gnomAD v4 |
| 14 | g.91273592G>C | CA390610836 | CCDC88C | c.5120C>G (p.Pro1707Arg) c.692C>G (p.Pro231Arg) n.932C>G c.1348C>G c.5012C>G (p.Pro1671Arg) n.5395C>G c.2201C>G (p.Pro734Arg) n.5393C>G | |
| 14 | g.91273592G>T | CA390610834 | CCDC88C | c.5120C>A (p.Pro1707Gln) c.692C>A (p.Pro231Gln) n.932C>A c.1348C>A c.5012C>A (p.Pro1671Gln) n.5395C>A c.2201C>A (p.Pro734Gln) n.5393C>A | gnomAD v4 |
| 14 | g.91273596dup | CA7308727 | CCDC88C | c.5120dup (p.Ala1708SerfsTer?) c.692dup (p.Ala232SerfsTer?) n.932dup c.1348dup c.5012dup (p.Ala1672SerfsTer?) n.5395dup c.2201dup (p.Ala735SerfsTer?) n.5393dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273596del | CA2626123449 | CCDC88C | c.5120del (p.Pro1707GlnfsTer?) c.692del (p.Pro231GlnfsTer?) n.932del c.1348del c.5012del (p.Pro1671GlnfsTer?) n.5395del c.2201del (p.Pro734GlnfsTer?) n.5393del | gnomAD v4 |
| 14 | g.91273593G>A | CA390610837 | CCDC88C | c.5119C>T (p.Pro1707Ser) c.691C>T (p.Pro231Ser) n.931C>T c.1347C>T c.5011C>T (p.Pro1671Ser) n.5394C>T c.2200C>T (p.Pro734Ser) n.5392C>T | gnomAD v4 |
| 14 | g.91273593G>C | CA390610838 | CCDC88C | c.5119C>G (p.Pro1707Ala) c.691C>G (p.Pro231Ala) n.931C>G c.1347C>G c.5011C>G (p.Pro1671Ala) n.5394C>G c.2200C>G (p.Pro734Ala) n.5392C>G | |
| 14 | g.91273593G>T | CA390610839 | CCDC88C | c.5119C>A (p.Pro1707Thr) c.691C>A (p.Pro231Thr) n.931C>A c.1347C>A c.5011C>A (p.Pro1671Thr) n.5394C>A c.2200C>A (p.Pro734Thr) n.5392C>A | |
| 14 | g.91273594G>A | CA487829373 | CCDC88C | c.5118C>T (p.Pro1706=) c.690C>T (p.Pro230=) n.930C>T c.1346C>T c.5010C>T (p.Pro1670=) n.5393C>T c.2199C>T (p.Pro733=) n.5391C>T | gnomAD v4 |
| 14 | g.91273594G>C | CA487829372 | CCDC88C | c.5118C>G (p.Pro1706=) c.690C>G (p.Pro230=) n.930C>G c.1346C>G c.5010C>G (p.Pro1670=) n.5393C>G c.2199C>G (p.Pro733=) n.5391C>G | |
| 14 | g.91273594G>T | CA487829371 | CCDC88C | c.5118C>A (p.Pro1706=) c.690C>A (p.Pro230=) n.930C>A c.1346C>A c.5010C>A (p.Pro1670=) n.5393C>A c.2199C>A (p.Pro733=) n.5391C>A | |
| 14 | g.91273595G>A | CA390610840 | CCDC88C | c.5117C>T (p.Pro1706Leu) c.689C>T (p.Pro230Leu) n.929C>T c.1345C>T c.5009C>T (p.Pro1670Leu) n.5392C>T c.2198C>T (p.Pro733Leu) n.5390C>T | |
| 14 | g.91273595G>C | CA390610841 | CCDC88C | c.5117C>G (p.Pro1706Arg) c.689C>G (p.Pro230Arg) n.929C>G c.1345C>G c.5009C>G (p.Pro1670Arg) n.5392C>G c.2198C>G (p.Pro733Arg) n.5390C>G | |
| 14 | g.91273595G>T | CA390610842 | CCDC88C | c.5117C>A (p.Pro1706His) c.689C>A (p.Pro230His) n.929C>A c.1345C>A c.5009C>A (p.Pro1670His) n.5392C>A c.2198C>A (p.Pro733His) n.5390C>A | gnomAD v4 |
| 14 | g.91273596G>A | CA7308728 | CCDC88C | c.5116C>T (p.Pro1706Ser) c.688C>T (p.Pro230Ser) n.928C>T c.1344C>T c.5008C>T (p.Pro1670Ser) n.5391C>T c.2197C>T (p.Pro733Ser) n.5389C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273596G>C | CA390610843 | CCDC88C | c.5116C>G (p.Pro1706Ala) c.688C>G (p.Pro230Ala) n.928C>G c.1344C>G c.5008C>G (p.Pro1670Ala) n.5391C>G c.2197C>G (p.Pro733Ala) n.5389C>G | |
| 14 | g.91273596G= | CA2154902741 | CCDC88C | c.5116C= (p.Pro1706=) c.688C= (p.Pro230=) n.928C= c.1344C= c.5008C= (p.Pro1670=) n.5391C= c.2197C= (p.Pro733=) n.5389C= | |
| 14 | g.91273596G>T | CA390610844 | CCDC88C | c.5116C>A (p.Pro1706Thr) c.688C>A (p.Pro230Thr) n.928C>A c.1344C>A c.5008C>A (p.Pro1670Thr) n.5391C>A c.2197C>A (p.Pro733Thr) n.5389C>A | gnomAD v4 |
| 14 | g.91273597del | CA2575602982 | CCDC88C | c.5115del (p.Pro1707GlnfsTer?) c.687del (p.Pro231GlnfsTer?) n.927del c.1343del c.5007del (p.Pro1671GlnfsTer?) n.5390del c.2196del (p.Pro734GlnfsTer?) n.5388del | |
| 14 | g.91273597A= | CA2154902742 | CCDC88C | c.5115T= (p.Asp1705=) c.687T= (p.Asp229=) n.927T= c.1343T= c.5007T= (p.Asp1669=) n.5390T= c.2196T= (p.Asp732=) n.5388T= | |
| 14 | g.91273597A>C | CA390610845 | CCDC88C | c.5115T>G (p.Asp1705Glu) c.687T>G (p.Asp229Glu) n.927T>G c.1343T>G c.5007T>G (p.Asp1669Glu) n.5390T>G c.2196T>G (p.Asp732Glu) n.5388T>G | |
| 14 | g.91273597A>G | CA487829374 | CCDC88C | c.5115T>C (p.Asp1705=) c.687T>C (p.Asp229=) n.927T>C c.1343T>C c.5007T>C (p.Asp1669=) n.5390T>C c.2196T>C (p.Asp732=) n.5388T>C | dbSNP |
| 14 | g.91273597A>T | CA390610846 | CCDC88C | c.5115T>A (p.Asp1705Glu) c.687T>A (p.Asp229Glu) n.927T>A c.1343T>A c.5007T>A (p.Asp1669Glu) n.5390T>A c.2196T>A (p.Asp732Glu) n.5388T>A | |
| 14 | g.91273597dup | CA2626123451 | CCDC88C | c.5115dup (p.Pro1706SerfsTer?) c.687dup (p.Pro230SerfsTer?) n.927dup c.1343dup c.5007dup (p.Pro1670SerfsTer?) n.5390dup c.2196dup (p.Pro733SerfsTer?) n.5388dup | gnomAD v4 |
| 14 | g.91273598T>A | CA390610847 | CCDC88C | c.5114A>T (p.Asp1705Val) c.686A>T (p.Asp229Val) n.926A>T c.1342A>T c.5006A>T (p.Asp1669Val) n.5389A>T c.2195A>T (p.Asp732Val) n.5387A>T | ClinVar gnomAD v4 |
| 14 | g.91273598T>C | CA390610848 | CCDC88C | c.5114A>G (p.Asp1705Gly) c.686A>G (p.Asp229Gly) n.926A>G c.1342A>G c.5006A>G (p.Asp1669Gly) n.5389A>G c.2195A>G (p.Asp732Gly) n.5387A>G | |
| 14 | g.91273598T>G | CA390610849 | CCDC88C | c.5114A>C (p.Asp1705Ala) c.686A>C (p.Asp229Ala) n.926A>C c.1342A>C c.5006A>C (p.Asp1669Ala) n.5389A>C c.2195A>C (p.Asp732Ala) n.5387A>C | |
| 14 | g.91273599C>A | CA390610850 | CCDC88C | c.5113G>T (p.Asp1705Tyr) c.685G>T (p.Asp229Tyr) n.925G>T c.1341G>T c.5005G>T (p.Asp1669Tyr) n.5388G>T c.2194G>T (p.Asp732Tyr) n.5386G>T | |
| 14 | g.91273599C= | CA2154902744 | CCDC88C | c.5113G= (p.Asp1705=) c.685G= (p.Asp229=) n.925G= c.1341G= c.5005G= (p.Asp1669=) n.5388G= c.2194G= (p.Asp732=) n.5386G= | |
| 14 | g.91273599C>G | CA390610851 | CCDC88C | c.5113G>C (p.Asp1705His) c.685G>C (p.Asp229His) n.925G>C c.1341G>C c.5005G>C (p.Asp1669His) n.5388G>C c.2194G>C (p.Asp732His) n.5386G>C | |
| 14 | g.91273599C>T | CA7308729 | CCDC88C | c.5113G>A (p.Asp1705Asn) c.685G>A (p.Asp229Asn) n.925G>A c.1341G>A c.5005G>A (p.Asp1669Asn) n.5388G>A c.2194G>A (p.Asp732Asn) n.5386G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273600G>A | CA7308730 | CCDC88C | c.5112C>T (p.Ser1704=) c.684C>T (p.Ser228=) n.924C>T c.1340C>T c.5004C>T (p.Ser1668=) n.5387C>T c.2193C>T (p.Ser731=) n.5385C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273600G>C | CA390610852 | CCDC88C | c.5112C>G (p.Ser1704Arg) c.684C>G (p.Ser228Arg) n.924C>G c.1340C>G c.5004C>G (p.Ser1668Arg) n.5387C>G c.2193C>G (p.Ser731Arg) n.5385C>G | dbSNP |
| 14 | g.91273600G= | CA2154902748 | CCDC88C | c.5112C= (p.Ser1704=) c.684C= (p.Ser228=) n.924C= c.1340C= c.5004C= (p.Ser1668=) n.5387C= c.2193C= (p.Ser731=) n.5385C= | |
| 14 | g.91273600G>T | CA390610853 | CCDC88C | c.5112C>A (p.Ser1704Arg) c.684C>A (p.Ser228Arg) n.924C>A c.1340C>A c.5004C>A (p.Ser1668Arg) n.5387C>A c.2193C>A (p.Ser731Arg) n.5385C>A | |
| 14 | g.91273601C>A | CA390610854 | CCDC88C | c.5111G>T (p.Ser1704Ile) c.683G>T (p.Ser228Ile) n.923G>T c.1339G>T c.5003G>T (p.Ser1668Ile) n.5386G>T c.2192G>T (p.Ser731Ile) n.5384G>T | dbSNP |
| 14 | g.91273601C= | CA2154902752 | CCDC88C | c.5111G= (p.Ser1704=) c.683G= (p.Ser228=) n.923G= c.1339G= c.5003G= (p.Ser1668=) n.5386G= c.2192G= (p.Ser731=) n.5384G= | |
| 14 | g.91273601C>G | CA390610855 | CCDC88C | c.5111G>C (p.Ser1704Thr) c.683G>C (p.Ser228Thr) n.923G>C c.1339G>C c.5003G>C (p.Ser1668Thr) n.5386G>C c.2192G>C (p.Ser731Thr) n.5384G>C | |
| 14 | g.91273601C>T | CA7308731 | CCDC88C | c.5111G>A (p.Ser1704Asn) c.683G>A (p.Ser228Asn) n.923G>A c.1339G>A c.5003G>A (p.Ser1668Asn) n.5386G>A c.2192G>A (p.Ser731Asn) n.5384G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273602T>A | CA390610856 | CCDC88C | c.5110A>T (p.Ser1704Cys) c.682A>T (p.Ser228Cys) n.922A>T c.1338A>T c.5002A>T (p.Ser1668Cys) n.5385A>T c.2191A>T (p.Ser731Cys) n.5383A>T | |
| 14 | g.91273602T>C | CA7308732 | CCDC88C | c.5110A>G (p.Ser1704Gly) c.682A>G (p.Ser228Gly) n.922A>G c.1338A>G c.5002A>G (p.Ser1668Gly) n.5385A>G c.2191A>G (p.Ser731Gly) n.5383A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273602T>G | CA390610857 | CCDC88C | c.5110A>C (p.Ser1704Arg) c.682A>C (p.Ser228Arg) n.922A>C c.1338A>C c.5002A>C (p.Ser1668Arg) n.5385A>C c.2191A>C (p.Ser731Arg) n.5383A>C | gnomAD v4 |
| 14 | g.91273602T= | CA2154902754 | CCDC88C | c.5110A= (p.Ser1704=) c.682A= (p.Ser228=) n.922A= c.1338A= c.5002A= (p.Ser1668=) n.5385A= c.2191A= (p.Ser731=) n.5383A= | |
| 14 | g.91273603G>A | CA487829375 | CCDC88C | c.5109C>T (p.Ala1703=) c.681C>T (p.Ala227=) n.921C>T c.1337C>T c.5001C>T (p.Ala1667=) n.5384C>T c.2190C>T (p.Ala730=) n.5382C>T | |
| 14 | g.91273603G>C | CA487829376 | CCDC88C | c.5109C>G (p.Ala1703=) c.681C>G (p.Ala227=) n.921C>G c.1337C>G c.5001C>G (p.Ala1667=) n.5384C>G c.2190C>G (p.Ala730=) n.5382C>G | |
| 14 | g.91273603G>T | CA487829377 | CCDC88C | c.5109C>A (p.Ala1703=) c.681C>A (p.Ala227=) n.921C>A c.1337C>A c.5001C>A (p.Ala1667=) n.5384C>A c.2190C>A (p.Ala730=) n.5382C>A | |
| 14 | g.91273604G>A | CA390610858 | CCDC88C | c.5108C>T (p.Ala1703Val) c.680C>T (p.Ala227Val) n.920C>T c.1336C>T c.5000C>T (p.Ala1667Val) n.5383C>T c.2189C>T (p.Ala730Val) n.5381C>T | gnomAD v4 |
| 14 | g.91273604G>C | CA390610859 | CCDC88C | c.5108C>G (p.Ala1703Gly) c.680C>G (p.Ala227Gly) n.920C>G c.1336C>G c.5000C>G (p.Ala1667Gly) n.5383C>G c.2189C>G (p.Ala730Gly) n.5381C>G | |
| 14 | g.91273604G>T | CA390610860 | CCDC88C | c.5108C>A (p.Ala1703Asp) c.680C>A (p.Ala227Asp) n.920C>A c.1336C>A c.5000C>A (p.Ala1667Asp) n.5383C>A c.2189C>A (p.Ala730Asp) n.5381C>A | |
| 14 | g.91273605C>A | CA390610861 | CCDC88C | c.5107G>T (p.Ala1703Ser) c.679G>T (p.Ala227Ser) n.919G>T c.1335G>T c.4999G>T (p.Ala1667Ser) n.5382G>T c.2188G>T (p.Ala730Ser) n.5380G>T | gnomAD v4 |
| 14 | g.91273605C>G | CA390610863 | CCDC88C | c.5107G>C (p.Ala1703Pro) c.679G>C (p.Ala227Pro) n.919G>C c.1335G>C c.4999G>C (p.Ala1667Pro) n.5382G>C c.2188G>C (p.Ala730Pro) n.5380G>C | gnomAD v4 |
| 14 | g.91273605C>T | CA390610862 | CCDC88C | c.5107G>A (p.Ala1703Thr) c.679G>A (p.Ala227Thr) n.919G>A c.1335G>A c.4999G>A (p.Ala1667Thr) n.5382G>A c.2188G>A (p.Ala730Thr) n.5380G>A | gnomAD v4 |
| 14 | g.91273606C>A | CA390610864 | CCDC88C | c.5106G>T (p.Lys1702Asn) c.678G>T (p.Lys226Asn) n.918G>T c.1334G>T c.4998G>T (p.Lys1666Asn) n.5381G>T c.2187G>T (p.Lys729Asn) n.5379G>T | |
| 14 | g.91273606C= | CA2154902756 | CCDC88C | c.5106G= (p.Lys1702=) c.678G= (p.Lys226=) n.918G= c.1334G= c.4998G= (p.Lys1666=) n.5381G= c.2187G= (p.Lys729=) n.5379G= | |
| 14 | g.91273606C>G | CA390610865 | CCDC88C | c.5106G>C (p.Lys1702Asn) c.678G>C (p.Lys226Asn) n.918G>C c.1334G>C c.4998G>C (p.Lys1666Asn) n.5381G>C c.2187G>C (p.Lys729Asn) n.5379G>C | gnomAD v4 |
| 14 | g.91273606C>T | CA487829378 | CCDC88C | c.5106G>A (p.Lys1702=) c.678G>A (p.Lys226=) n.918G>A c.1334G>A c.4998G>A (p.Lys1666=) n.5381G>A c.2187G>A (p.Lys729=) n.5379G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273607T>A | CA390610866 | CCDC88C | c.5105A>T (p.Lys1702Met) c.677A>T (p.Lys226Met) n.917A>T c.1333A>T c.4997A>T (p.Lys1666Met) n.5380A>T c.2186A>T (p.Lys729Met) n.5378A>T | dbSNP |
| 14 | g.91273607T>C | CA390610867 | CCDC88C | c.5105A>G (p.Lys1702Arg) c.677A>G (p.Lys226Arg) n.917A>G c.1333A>G c.4997A>G (p.Lys1666Arg) n.5380A>G c.2186A>G (p.Lys729Arg) n.5378A>G | |
| 14 | g.91273607T>G | CA390610868 | CCDC88C | c.5105A>C (p.Lys1702Thr) c.677A>C (p.Lys226Thr) n.917A>C c.1333A>C c.4997A>C (p.Lys1666Thr) n.5380A>C c.2186A>C (p.Lys729Thr) n.5378A>C | dbSNP |
| 14 | g.91273607T= | CA2154902760 | CCDC88C | c.5105A= (p.Lys1702=) c.677A= (p.Lys226=) n.917A= c.1333A= c.4997A= (p.Lys1666=) n.5380A= c.2186A= (p.Lys729=) n.5378A= | |
| 14 | g.91273608T>A | CA390610869 | CCDC88C | c.5104A>T (p.Lys1702Ter) c.676A>T (p.Lys226Ter) n.916A>T c.1332A>T c.4996A>T (p.Lys1666Ter) n.5379A>T c.2185A>T (p.Lys729Ter) n.5377A>T | |
| 14 | g.91273608T>C | CA390610870 | CCDC88C | c.5104A>G (p.Lys1702Glu) c.676A>G (p.Lys226Glu) n.916A>G c.1332A>G c.4996A>G (p.Lys1666Glu) n.5379A>G c.2185A>G (p.Lys729Glu) n.5377A>G | |
| 14 | g.91273608T>G | CA390610871 | CCDC88C | c.5104A>C (p.Lys1702Gln) c.676A>C (p.Lys226Gln) n.916A>C c.1332A>C c.4996A>C (p.Lys1666Gln) n.5379A>C c.2185A>C (p.Lys729Gln) n.5377A>C | |
| 14 | g.91273609T>A | CA487829379 | CCDC88C | c.5103A>T (p.Arg1701=) c.675A>T (p.Arg225=) n.915A>T c.1331A>T c.4995A>T (p.Arg1665=) n.5378A>T c.2184A>T (p.Arg728=) n.5376A>T | |
| 14 | g.91273609T>C | CA487829380 | CCDC88C | c.5103A>G (p.Arg1701=) c.675A>G (p.Arg225=) n.915A>G c.1331A>G c.4995A>G (p.Arg1665=) n.5378A>G c.2184A>G (p.Arg728=) n.5376A>G | |
| 14 | g.91273609T>G | CA487829381 | CCDC88C | c.5103A>C (p.Arg1701=) c.675A>C (p.Arg225=) n.915A>C c.1331A>C c.4995A>C (p.Arg1665=) n.5378A>C c.2184A>C (p.Arg728=) n.5376A>C | |
| 14 | g.91273610C>A | CA390610872 | CCDC88C | c.5102G>T (p.Arg1701Leu) c.674G>T (p.Arg225Leu) n.914G>T c.1330G>T c.4994G>T (p.Arg1665Leu) n.5377G>T c.2183G>T (p.Arg728Leu) n.5375G>T | gnomAD v4 |
| 14 | g.91273610C= | CA2154902765 | CCDC88C | c.5102G= (p.Arg1701=) c.674G= (p.Arg225=) n.914G= c.1330G= c.4994G= (p.Arg1665=) n.5377G= c.2183G= (p.Arg728=) n.5375G= | |
| 14 | g.91273610C>G | CA390610873 | CCDC88C | c.5102G>C (p.Arg1701Pro) c.674G>C (p.Arg225Pro) n.914G>C c.1330G>C c.4994G>C (p.Arg1665Pro) n.5377G>C c.2183G>C (p.Arg728Pro) n.5375G>C | |
| 14 | g.91273610C>T | CA7308733 | CCDC88C | c.5102G>A (p.Arg1701Gln) c.674G>A (p.Arg225Gln) n.914G>A c.1330G>A c.4994G>A (p.Arg1665Gln) n.5377G>A c.2183G>A (p.Arg728Gln) n.5375G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273611G>A | CA390610874 | CCDC88C | c.5101C>T (p.Arg1701Ter) c.673C>T (p.Arg225Ter) n.913C>T c.1329C>T c.4993C>T (p.Arg1665Ter) n.5376C>T c.2182C>T (p.Arg728Ter) n.5374C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91273611G>C | CA390610875 | CCDC88C | c.5101C>G (p.Arg1701Gly) c.673C>G (p.Arg225Gly) n.913C>G c.1329C>G c.4993C>G (p.Arg1665Gly) n.5376C>G c.2182C>G (p.Arg728Gly) n.5374C>G | gnomAD v4 |
| 14 | g.91273611G= | CA2154902768 | CCDC88C | c.5101C= (p.Arg1701=) c.673C= (p.Arg225=) n.913C= c.1329C= c.4993C= (p.Arg1665=) n.5376C= c.2182C= (p.Arg728=) n.5374C= | |
| 14 | g.91273611G>T | CA487829382 | CCDC88C | c.5101C>A (p.Arg1701=) c.673C>A (p.Arg225=) n.913C>A c.1329C>A c.4993C>A (p.Arg1665=) n.5376C>A c.2182C>A (p.Arg728=) n.5374C>A | gnomAD v4 |
| 14 | g.91273612G>A | CA487829383 | CCDC88C | c.5100C>T (p.Phe1700=) c.672C>T (p.Phe224=) n.912C>T c.1328C>T c.4992C>T (p.Phe1664=) n.5375C>T c.2181C>T (p.Phe727=) n.5373C>T | COSMIC COSMIC COSMIC |
| 14 | g.91273612G>C | CA390610876 | CCDC88C | c.5100C>G (p.Phe1700Leu) c.672C>G (p.Phe224Leu) n.912C>G c.1328C>G c.4992C>G (p.Phe1664Leu) n.5375C>G c.2181C>G (p.Phe727Leu) n.5373C>G | gnomAD v4 |
| 14 | g.91273612G>T | CA390610877 | CCDC88C | c.5100C>A (p.Phe1700Leu) c.672C>A (p.Phe224Leu) n.912C>A c.1328C>A c.4992C>A (p.Phe1664Leu) n.5375C>A c.2181C>A (p.Phe727Leu) n.5373C>A | gnomAD v4 |
| 14 | g.91273613A>C | CA390610878 | CCDC88C | c.5099T>G (p.Phe1700Cys) c.671T>G (p.Phe224Cys) n.911T>G c.1327T>G c.4991T>G (p.Phe1664Cys) n.5374T>G c.2180T>G (p.Phe727Cys) n.5372T>G | |
| 14 | g.91273613A>G | CA390610879 | CCDC88C | c.5099T>C (p.Phe1700Ser) c.671T>C (p.Phe224Ser) n.911T>C c.1327T>C c.4991T>C (p.Phe1664Ser) n.5374T>C c.2180T>C (p.Phe727Ser) n.5372T>C | |
| 14 | g.91273613A>T | CA390610880 | CCDC88C | c.5099T>A (p.Phe1700Tyr) c.671T>A (p.Phe224Tyr) n.911T>A c.1327T>A c.4991T>A (p.Phe1664Tyr) n.5374T>A c.2180T>A (p.Phe727Tyr) n.5372T>A | |
| 14 | g.91273614A>C | CA390610881 | CCDC88C | c.5098T>G (p.Phe1700Val) c.670T>G (p.Phe224Val) n.910T>G c.1326T>G c.4990T>G (p.Phe1664Val) n.5373T>G c.2179T>G (p.Phe727Val) n.5371T>G | |
| 14 | g.91273614A>G | CA390610882 | CCDC88C | c.5098T>C (p.Phe1700Leu) c.670T>C (p.Phe224Leu) n.910T>C c.1326T>C c.4990T>C (p.Phe1664Leu) n.5373T>C c.2179T>C (p.Phe727Leu) n.5371T>C | |
| 14 | g.91273614A>T | CA390610883 | CCDC88C | c.5098T>A (p.Phe1700Ile) c.670T>A (p.Phe224Ile) n.910T>A c.1326T>A c.4990T>A (p.Phe1664Ile) n.5373T>A c.2179T>A (p.Phe727Ile) n.5371T>A | |
| 14 | g.91273615G>A | CA487829384 | CCDC88C | c.5097C>T (p.Tyr1699=) c.669C>T (p.Tyr223=) n.909C>T c.1325C>T c.4989C>T (p.Tyr1663=) n.5372C>T c.2178C>T (p.Tyr726=) n.5370C>T | gnomAD v4 |
| 14 | g.91273615G>C | CA390610884 | CCDC88C | c.5097C>G (p.Tyr1699Ter) c.669C>G (p.Tyr223Ter) n.909C>G c.1325C>G c.4989C>G (p.Tyr1663Ter) n.5372C>G c.2178C>G (p.Tyr726Ter) n.5370C>G | |
| 14 | g.91273615G>T | CA390610885 | CCDC88C | c.5097C>A (p.Tyr1699Ter) c.669C>A (p.Tyr223Ter) n.909C>A c.1325C>A c.4989C>A (p.Tyr1663Ter) n.5372C>A c.2178C>A (p.Tyr726Ter) n.5370C>A | |
| 14 | g.91273616T>A | CA390610886 | CCDC88C | c.5096A>T (p.Tyr1699Phe) c.668A>T (p.Tyr223Phe) n.908A>T c.1324A>T c.4988A>T (p.Tyr1663Phe) n.5371A>T c.2177A>T (p.Tyr726Phe) n.5369A>T | gnomAD v4 |
| 14 | g.91273616T>C | CA390610887 | CCDC88C | c.5096A>G (p.Tyr1699Cys) c.668A>G (p.Tyr223Cys) n.908A>G c.1324A>G c.4988A>G (p.Tyr1663Cys) n.5371A>G c.2177A>G (p.Tyr726Cys) n.5369A>G | dbSNP gnomAD v4 |
| 14 | g.91273616T>G | CA390610888 | CCDC88C | c.5096A>C (p.Tyr1699Ser) c.668A>C (p.Tyr223Ser) n.908A>C c.1324A>C c.4988A>C (p.Tyr1663Ser) n.5371A>C c.2177A>C (p.Tyr726Ser) n.5369A>C | dbSNP |
| 14 | g.91273616T= | CA2154902771 | CCDC88C | c.5096A= (p.Tyr1699=) c.668A= (p.Tyr223=) n.908A= c.1324A= c.4988A= (p.Tyr1663=) n.5371A= c.2177A= (p.Tyr726=) n.5369A= | |
| 14 | g.91273617A>C | CA390610889 | CCDC88C | c.5095T>G (p.Tyr1699Asp) c.667T>G (p.Tyr223Asp) n.907T>G c.1323T>G c.4987T>G (p.Tyr1663Asp) n.5370T>G c.2176T>G (p.Tyr726Asp) n.5368T>G | |
| 14 | g.91273617A>G | CA390610891 | CCDC88C | c.5095T>C (p.Tyr1699His) c.667T>C (p.Tyr223His) n.907T>C c.1323T>C c.4987T>C (p.Tyr1663His) n.5370T>C c.2176T>C (p.Tyr726His) n.5368T>C | |
| 14 | g.91273617A>T | CA390610890 | CCDC88C | c.5095T>A (p.Tyr1699Asn) c.667T>A (p.Tyr223Asn) n.907T>A c.1323T>A c.4987T>A (p.Tyr1663Asn) n.5370T>A c.2176T>A (p.Tyr726Asn) n.5368T>A | |
| 14 | g.91273618G>A | CA487829385 | CCDC88C | c.5094C>T (p.Asp1698=) c.666C>T (p.Asp222=) n.906C>T c.1322C>T c.4986C>T (p.Asp1662=) n.5369C>T c.2175C>T (p.Asp725=) n.5367C>T | |
| 14 | g.91273618G>C | CA390610892 | CCDC88C | c.5094C>G (p.Asp1698Glu) c.666C>G (p.Asp222Glu) n.906C>G c.1322C>G c.4986C>G (p.Asp1662Glu) n.5369C>G c.2175C>G (p.Asp725Glu) n.5367C>G | |
| 14 | g.91273618G>T | CA390610893 | CCDC88C | c.5094C>A (p.Asp1698Glu) c.666C>A (p.Asp222Glu) n.906C>A c.1322C>A c.4986C>A (p.Asp1662Glu) n.5369C>A c.2175C>A (p.Asp725Glu) n.5367C>A | gnomAD v4 |
| 14 | g.91273619T>A | CA7308734 | CCDC88C | c.5093A>T (p.Asp1698Val) c.665A>T (p.Asp222Val) n.905A>T c.1321A>T c.4985A>T (p.Asp1662Val) n.5368A>T c.2174A>T (p.Asp725Val) n.5366A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273619T>C | CA390610895 | CCDC88C | c.5093A>G (p.Asp1698Gly) c.665A>G (p.Asp222Gly) n.905A>G c.1321A>G c.4985A>G (p.Asp1662Gly) n.5368A>G c.2174A>G (p.Asp725Gly) n.5366A>G | |
| 14 | g.91273619T>G | CA390610894 | CCDC88C | c.5093A>C (p.Asp1698Ala) c.665A>C (p.Asp222Ala) n.905A>C c.1321A>C c.4985A>C (p.Asp1662Ala) n.5368A>C c.2174A>C (p.Asp725Ala) n.5366A>C | |
| 14 | g.91273619T= | CA2154902774 | CCDC88C | c.5093A= (p.Asp1698=) c.665A= (p.Asp222=) n.905A= c.1321A= c.4985A= (p.Asp1662=) n.5368A= c.2174A= (p.Asp725=) n.5366A= | |
| 14 | g.91273620C>A | CA390610896 | CCDC88C | c.5092G>T (p.Asp1698Tyr) c.664G>T (p.Asp222Tyr) n.904G>T c.1320G>T c.4984G>T (p.Asp1662Tyr) n.5367G>T c.2173G>T (p.Asp725Tyr) n.5365G>T | gnomAD v4 |
| 14 | g.91273620C>G | CA390610897 | CCDC88C | c.5092G>C (p.Asp1698His) c.664G>C (p.Asp222His) n.904G>C c.1320G>C c.4984G>C (p.Asp1662His) n.5367G>C c.2173G>C (p.Asp725His) n.5365G>C | |
| 14 | g.91273620C>T | CA390610898 | CCDC88C | c.5092G>A (p.Asp1698Asn) c.664G>A (p.Asp222Asn) n.904G>A c.1320G>A c.4984G>A (p.Asp1662Asn) n.5367G>A c.2173G>A (p.Asp725Asn) n.5365G>A | |
| 14 | g.91273621A>C | CA390610899 | CCDC88C | c.5091T>G (p.Ser1697Arg) c.663T>G (p.Ser221Arg) n.903T>G c.1319T>G c.4983T>G (p.Ser1661Arg) n.5366T>G c.2172T>G (p.Ser724Arg) n.5364T>G | |
| 14 | g.91273621A>G | CA487829386 | CCDC88C | c.5091T>C (p.Ser1697=) c.663T>C (p.Ser221=) n.903T>C c.1319T>C c.4983T>C (p.Ser1661=) n.5366T>C c.2172T>C (p.Ser724=) n.5364T>C | |
| 14 | g.91273621A>T | CA390610900 | CCDC88C | c.5091T>A (p.Ser1697Arg) c.663T>A (p.Ser221Arg) n.903T>A c.1319T>A c.4983T>A (p.Ser1661Arg) n.5366T>A c.2172T>A (p.Ser724Arg) n.5364T>A | |
| 14 | g.91273622C>A | CA390610901 | CCDC88C | c.5090G>T (p.Ser1697Ile) c.662G>T (p.Ser221Ile) n.902G>T c.1318G>T c.4982G>T (p.Ser1661Ile) n.5365G>T c.2171G>T (p.Ser724Ile) n.5363G>T | |
| 14 | g.91273622C= | CA2154902779 | CCDC88C | c.5090G= (p.Ser1697=) c.662G= (p.Ser221=) n.902G= c.1318G= c.4982G= (p.Ser1661=) n.5365G= c.2171G= (p.Ser724=) n.5363G= | |
| 14 | g.91273622C>G | CA390610902 | CCDC88C | c.5090G>C (p.Ser1697Thr) c.662G>C (p.Ser221Thr) n.902G>C c.1318G>C c.4982G>C (p.Ser1661Thr) n.5365G>C c.2171G>C (p.Ser724Thr) n.5363G>C | |
| 14 | g.91273622C>T | CA7308735 | CCDC88C | c.5090G>A (p.Ser1697Asn) c.662G>A (p.Ser221Asn) n.902G>A c.1318G>A c.4982G>A (p.Ser1661Asn) n.5365G>A c.2171G>A (p.Ser724Asn) n.5363G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273623T>A | CA390610903 | CCDC88C | c.5089A>T (p.Ser1697Cys) c.661A>T (p.Ser221Cys) n.901A>T c.1317A>T c.4981A>T (p.Ser1661Cys) n.5364A>T c.2170A>T (p.Ser724Cys) n.5362A>T | |
| 14 | g.91273623T>C | CA390610904 | CCDC88C | c.5089A>G (p.Ser1697Gly) c.661A>G (p.Ser221Gly) n.901A>G c.1317A>G c.4981A>G (p.Ser1661Gly) n.5364A>G c.2170A>G (p.Ser724Gly) n.5362A>G | |
| 14 | g.91273623T>G | CA390610905 | CCDC88C | c.5089A>C (p.Ser1697Arg) c.661A>C (p.Ser221Arg) n.901A>C c.1317A>C c.4981A>C (p.Ser1661Arg) n.5364A>C c.2170A>C (p.Ser724Arg) n.5362A>C | gnomAD v4 |
| 14 | g.91273624C>A | CA487829387 | CCDC88C | c.5088G>T (p.Leu1696=) c.660G>T (p.Leu220=) n.900G>T c.1316G>T c.4980G>T (p.Leu1660=) n.5363G>T c.2169G>T (p.Leu723=) n.5361G>T | |
| 14 | g.91273624C>G | CA487829388 | CCDC88C | c.5088G>C (p.Leu1696=) c.660G>C (p.Leu220=) n.900G>C c.1316G>C c.4980G>C (p.Leu1660=) n.5363G>C c.2169G>C (p.Leu723=) n.5361G>C | |
| 14 | g.91273624C>T | CA487829389 | CCDC88C | c.5088G>A (p.Leu1696=) c.660G>A (p.Leu220=) n.900G>A c.1316G>A c.4980G>A (p.Leu1660=) n.5363G>A c.2169G>A (p.Leu723=) n.5361G>A | |
| 14 | g.91273625A= | CA2154902784 | CCDC88C | c.5087T= (p.Leu1696=) c.659T= (p.Leu220=) n.899T= c.1315T= c.4979T= (p.Leu1660=) n.5362T= c.2168T= (p.Leu723=) n.5360T= | |
| 14 | g.91273625A>C | CA390610907 | CCDC88C | c.5087T>G (p.Leu1696Arg) c.659T>G (p.Leu220Arg) n.899T>G c.1315T>G c.4979T>G (p.Leu1660Arg) n.5362T>G c.2168T>G (p.Leu723Arg) n.5360T>G | |
| 14 | g.91273625A>G | CA7308736 | CCDC88C | c.5087T>C (p.Leu1696Pro) c.659T>C (p.Leu220Pro) n.899T>C c.1315T>C c.4979T>C (p.Leu1660Pro) n.5362T>C c.2168T>C (p.Leu723Pro) n.5360T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273625A>T | CA390610906 | CCDC88C | c.5087T>A (p.Leu1696Gln) c.659T>A (p.Leu220Gln) n.899T>A c.1315T>A c.4979T>A (p.Leu1660Gln) n.5362T>A c.2168T>A (p.Leu723Gln) n.5360T>A | |
| 14 | g.91273626G>A | CA7308737 | CCDC88C | c.5086C>T (p.Leu1696=) c.658C>T (p.Leu220=) n.898C>T c.1314C>T c.4978C>T (p.Leu1660=) n.5361C>T c.2167C>T (p.Leu723=) n.5359C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273626G>C | CA390610908 | CCDC88C | c.5086C>G (p.Leu1696Val) c.658C>G (p.Leu220Val) n.898C>G c.1314C>G c.4978C>G (p.Leu1660Val) n.5361C>G c.2167C>G (p.Leu723Val) n.5359C>G | |
| 14 | g.91273626G= | CA2154902790 | CCDC88C | c.5086C= (p.Leu1696=) c.658C= (p.Leu220=) n.898C= c.1314C= c.4978C= (p.Leu1660=) n.5361C= c.2167C= (p.Leu723=) n.5359C= | |
| 14 | g.91273626G>T | CA390610909 | CCDC88C | c.5086C>A (p.Leu1696Met) c.658C>A (p.Leu220Met) n.898C>A c.1314C>A c.4978C>A (p.Leu1660Met) n.5361C>A c.2167C>A (p.Leu723Met) n.5359C>A | |
| 14 | g.91273627C>A | CA487829152 | CCDC88C | c.5085G>T (p.Leu1695=) c.657G>T (p.Leu219=) n.897G>T c.1313G>T c.4977G>T (p.Leu1659=) n.5360G>T c.2166G>T (p.Leu722=) n.5358G>T | gnomAD v4 |
| 14 | g.91273627C= | CA2154902798 | CCDC88C | c.5085G= (p.Leu1695=) c.657G= (p.Leu219=) n.897G= c.1313G= c.4977G= (p.Leu1659=) n.5360G= c.2166G= (p.Leu722=) n.5358G= | |
| 14 | g.91273627C>G | CA487829156 | CCDC88C | c.5085G>C (p.Leu1695=) c.657G>C (p.Leu219=) n.897G>C c.1313G>C c.4977G>C (p.Leu1659=) n.5360G>C c.2166G>C (p.Leu722=) n.5358G>C | |
| 14 | g.91273627C>T | CA487829154 | CCDC88C | c.5085G>A (p.Leu1695=) c.657G>A (p.Leu219=) n.897G>A c.1313G>A c.4977G>A (p.Leu1659=) n.5360G>A c.2166G>A (p.Leu722=) n.5358G>A | dbSNP gnomAD v4 |
| 14 | g.91273628A>C | CA390610910 | CCDC88C | c.5084T>G (p.Leu1695Arg) c.656T>G (p.Leu219Arg) n.896T>G c.1312T>G c.4976T>G (p.Leu1659Arg) n.5359T>G c.2165T>G (p.Leu722Arg) n.5357T>G | |
| 14 | g.91273628A>G | CA390610911 | CCDC88C | c.5084T>C (p.Leu1695Pro) c.656T>C (p.Leu219Pro) n.896T>C c.1312T>C c.4976T>C (p.Leu1659Pro) n.5359T>C c.2165T>C (p.Leu722Pro) n.5357T>C | gnomAD v4 |
| 14 | g.91273628A>T | CA390610912 | CCDC88C | c.5084T>A (p.Leu1695Gln) c.656T>A (p.Leu219Gln) n.896T>A c.1312T>A c.4976T>A (p.Leu1659Gln) n.5359T>A c.2165T>A (p.Leu722Gln) n.5357T>A | gnomAD v4 |
| 14 | g.91273629G>A | CA487829159 | CCDC88C | c.5083C>T (p.Leu1695=) c.655C>T (p.Leu219=) n.895C>T c.1311C>T c.4975C>T (p.Leu1659=) n.5358C>T c.2164C>T (p.Leu722=) n.5356C>T | |
| 14 | g.91273629G>C | CA390610913 | CCDC88C | c.5083C>G (p.Leu1695Val) c.655C>G (p.Leu219Val) n.895C>G c.1311C>G c.4975C>G (p.Leu1659Val) n.5358C>G c.2164C>G (p.Leu722Val) n.5356C>G | |
| 14 | g.91273629G>T | CA390610914 | CCDC88C | c.5083C>A (p.Leu1695Met) c.655C>A (p.Leu219Met) n.895C>A c.1311C>A c.4975C>A (p.Leu1659Met) n.5358C>A c.2164C>A (p.Leu722Met) n.5356C>A | |
| 14 | g.91273630G>A | CA487829164 | CCDC88C | c.5082C>T (p.Asp1694=) c.654C>T (p.Asp218=) n.894C>T c.1310C>T c.4974C>T (p.Asp1658=) n.5357C>T c.2163C>T (p.Asp721=) n.5355C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91273630G>C | CA390610915 | CCDC88C | c.5082C>G (p.Asp1694Glu) c.654C>G (p.Asp218Glu) n.894C>G c.1310C>G c.4974C>G (p.Asp1658Glu) n.5357C>G c.2163C>G (p.Asp721Glu) n.5355C>G | gnomAD v4 |
| 14 | g.91273630G= | CA2154902812 | CCDC88C | c.5082C= (p.Asp1694=) c.654C= (p.Asp218=) n.894C= c.1310C= c.4974C= (p.Asp1658=) n.5357C= c.2163C= (p.Asp721=) n.5355C= | |
| 14 | g.91273630G>T | CA390610916 | CCDC88C | c.5082C>A (p.Asp1694Glu) c.654C>A (p.Asp218Glu) n.894C>A c.1310C>A c.4974C>A (p.Asp1658Glu) n.5357C>A c.2163C>A (p.Asp721Glu) n.5355C>A | |
| 14 | g.91273631T>A | CA390610919 | CCDC88C | c.5081A>T (p.Asp1694Val) c.653A>T (p.Asp218Val) n.893A>T c.1309A>T c.4973A>T (p.Asp1658Val) n.5356A>T c.2162A>T (p.Asp721Val) n.5354A>T | |
| 14 | g.91273631T>C | CA390610918 | CCDC88C | c.5081A>G (p.Asp1694Gly) c.653A>G (p.Asp218Gly) n.893A>G c.1309A>G c.4973A>G (p.Asp1658Gly) n.5356A>G c.2162A>G (p.Asp721Gly) n.5354A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273631T>G | CA390610917 | CCDC88C | c.5081A>C (p.Asp1694Ala) c.653A>C (p.Asp218Ala) n.893A>C c.1309A>C c.4973A>C (p.Asp1658Ala) n.5356A>C c.2162A>C (p.Asp721Ala) n.5354A>C | |
| 14 | g.91273631T= | CA2154902820 | CCDC88C | c.5081A= (p.Asp1694=) c.653A= (p.Asp218=) n.893A= c.1309A= c.4973A= (p.Asp1658=) n.5356A= c.2162A= (p.Asp721=) n.5354A= | |
| 14 | g.91273632C>A | CA390610920 | CCDC88C | c.5080G>T (p.Asp1694Tyr) c.652G>T (p.Asp218Tyr) n.892G>T c.1308G>T c.4972G>T (p.Asp1658Tyr) n.5355G>T c.2161G>T (p.Asp721Tyr) n.5353G>T | dbSNP |
| 14 | g.91273632C= | CA2154902828 | CCDC88C | c.5080G= (p.Asp1694=) c.652G= (p.Asp218=) n.892G= c.1308G= c.4972G= (p.Asp1658=) n.5355G= c.2161G= (p.Asp721=) n.5353G= | |
| 14 | g.91273632C>G | CA390610921 | CCDC88C | c.5080G>C (p.Asp1694His) c.652G>C (p.Asp218His) n.892G>C c.1308G>C c.4972G>C (p.Asp1658His) n.5355G>C c.2161G>C (p.Asp721His) n.5353G>C | |
| 14 | g.91273632C>T | CA7308738 | CCDC88C | c.5080G>A (p.Asp1694Asn) c.652G>A (p.Asp218Asn) n.892G>A c.1308G>A c.4972G>A (p.Asp1658Asn) n.5355G>A c.2161G>A (p.Asp721Asn) n.5353G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273633A>C | CA390610922 | CCDC88C | c.5079T>G (p.Asp1693Glu) c.651T>G (p.Asp217Glu) n.891T>G c.1307T>G c.4971T>G (p.Asp1657Glu) n.5354T>G c.2160T>G (p.Asp720Glu) n.5352T>G | |
| 14 | g.91273633A>G | CA487829168 | CCDC88C | c.5079T>C (p.Asp1693=) c.651T>C (p.Asp217=) n.891T>C c.1307T>C c.4971T>C (p.Asp1657=) n.5354T>C c.2160T>C (p.Asp720=) n.5352T>C | gnomAD v4 |
| 14 | g.91273633A>T | CA390610923 | CCDC88C | c.5079T>A (p.Asp1693Glu) c.651T>A (p.Asp217Glu) n.891T>A c.1307T>A c.4971T>A (p.Asp1657Glu) n.5354T>A c.2160T>A (p.Asp720Glu) n.5352T>A | |
| 14 | g.91273634T>A | CA7308739 | CCDC88C | c.5078A>T (p.Asp1693Val) c.650A>T (p.Asp217Val) n.890A>T c.1306A>T c.4970A>T (p.Asp1657Val) n.5353A>T c.2159A>T (p.Asp720Val) n.5351A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273634T>C | CA390610924 | CCDC88C | c.5078A>G (p.Asp1693Gly) c.650A>G (p.Asp217Gly) n.890A>G c.1306A>G c.4970A>G (p.Asp1657Gly) n.5353A>G c.2159A>G (p.Asp720Gly) n.5351A>G | |
| 14 | g.91273634T>G | CA390610925 | CCDC88C | c.5078A>C (p.Asp1693Ala) c.650A>C (p.Asp217Ala) n.890A>C c.1306A>C c.4970A>C (p.Asp1657Ala) n.5353A>C c.2159A>C (p.Asp720Ala) n.5351A>C | |
| 14 | g.91273634T= | CA2154902835 | CCDC88C | c.5078A= (p.Asp1693=) c.650A= (p.Asp217=) n.890A= c.1306A= c.4970A= (p.Asp1657=) n.5353A= c.2159A= (p.Asp720=) n.5351A= | |
| 14 | g.91273635C>A | CA390610926 | CCDC88C | c.5077G>T (p.Asp1693Tyr) c.649G>T (p.Asp217Tyr) n.889G>T c.1305G>T c.4969G>T (p.Asp1657Tyr) n.5352G>T c.2158G>T (p.Asp720Tyr) n.5350G>T | gnomAD v4 |
| 14 | g.91273635C>G | CA390610927 | CCDC88C | c.5077G>C (p.Asp1693His) c.649G>C (p.Asp217His) n.889G>C c.1305G>C c.4969G>C (p.Asp1657His) n.5352G>C c.2158G>C (p.Asp720His) n.5350G>C | |
| 14 | g.91273635C>T | CA390610928 | CCDC88C | c.5077G>A (p.Asp1693Asn) c.649G>A (p.Asp217Asn) n.889G>A c.1305G>A c.4969G>A (p.Asp1657Asn) n.5352G>A c.2158G>A (p.Asp720Asn) n.5350G>A | gnomAD v4 |
| 14 | g.91273636C>A | CA487829172 | CCDC88C | c.5076G>T (p.Arg1692=) c.648G>T (p.Arg216=) n.888G>T c.1304G>T c.4968G>T (p.Arg1656=) n.5351G>T c.2157G>T (p.Arg719=) n.5349G>T | |
| 14 | g.91273636C= | CA2154902844 | CCDC88C | c.5076G= (p.Arg1692=) c.648G= (p.Arg216=) n.888G= c.1304G= c.4968G= (p.Arg1656=) n.5351G= c.2157G= (p.Arg719=) n.5349G= | |
| 14 | g.91273636C>G | CA487829174 | CCDC88C | c.5076G>C (p.Arg1692=) c.648G>C (p.Arg216=) n.888G>C c.1304G>C c.4968G>C (p.Arg1656=) n.5351G>C c.2157G>C (p.Arg719=) n.5349G>C | |
| 14 | g.91273636C>T | CA7308740 | CCDC88C | c.5076G>A (p.Arg1692=) c.648G>A (p.Arg216=) n.888G>A c.1304G>A c.4968G>A (p.Arg1656=) n.5351G>A c.2157G>A (p.Arg719=) n.5349G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273637C>A | CA390610930 | CCDC88C | c.5075G>T (p.Arg1692Leu) c.647G>T (p.Arg216Leu) n.887G>T c.1303G>T c.4967G>T (p.Arg1656Leu) n.5350G>T c.2156G>T (p.Arg719Leu) n.5348G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273637C= | CA2154902848 | CCDC88C | c.5075G= (p.Arg1692=) c.647G= (p.Arg216=) n.887G= c.1303G= c.4967G= (p.Arg1656=) n.5350G= c.2156G= (p.Arg719=) n.5348G= | |
| 14 | g.91273637C>G | CA390610929 | CCDC88C | c.5075G>C (p.Arg1692Pro) c.647G>C (p.Arg216Pro) n.887G>C c.1303G>C c.4967G>C (p.Arg1656Pro) n.5350G>C c.2156G>C (p.Arg719Pro) n.5348G>C | |
| 14 | g.91273637C>T | CA7308741 | CCDC88C | c.5075G>A (p.Arg1692Gln) c.647G>A (p.Arg216Gln) n.887G>A c.1303G>A c.4967G>A (p.Arg1656Gln) n.5350G>A c.2156G>A (p.Arg719Gln) n.5348G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273638G>A | CA7308742 | CCDC88C | c.5074C>T (p.Arg1692Trp) c.646C>T (p.Arg216Trp) n.886C>T c.1302C>T c.4966C>T (p.Arg1656Trp) n.5349C>T c.2155C>T (p.Arg719Trp) n.5347C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273638G>C | CA390610931 | CCDC88C | c.5074C>G (p.Arg1692Gly) c.646C>G (p.Arg216Gly) n.886C>G c.1302C>G c.4966C>G (p.Arg1656Gly) n.5349C>G c.2155C>G (p.Arg719Gly) n.5347C>G | |
| 14 | g.91273638G= | CA2154902858 | CCDC88C | c.5074C= (p.Arg1692=) c.646C= (p.Arg216=) n.886C= c.1302C= c.4966C= (p.Arg1656=) n.5349C= c.2155C= (p.Arg719=) n.5347C= | |
| 14 | g.91273638G>T | CA487829176 | CCDC88C | c.5074C>A (p.Arg1692=) c.646C>A (p.Arg216=) n.886C>A c.1302C>A c.4966C>A (p.Arg1656=) n.5349C>A c.2155C>A (p.Arg719=) n.5347C>A | |
| 14 | g.91273639G>A | CA487829178 | CCDC88C | c.5073C>T (p.Cys1691=) c.645C>T (p.Cys215=) n.885C>T c.1301C>T c.4965C>T (p.Cys1655=) n.5348C>T c.2154C>T (p.Cys718=) n.5346C>T | gnomAD v4 |
| 14 | g.91273639G>C | CA390610932 | CCDC88C | c.5073C>G (p.Cys1691Trp) c.645C>G (p.Cys215Trp) n.885C>G c.1301C>G c.4965C>G (p.Cys1655Trp) n.5348C>G c.2154C>G (p.Cys718Trp) n.5346C>G | |
| 14 | g.91273639G>T | CA390610933 | CCDC88C | c.5073C>A (p.Cys1691Ter) c.645C>A (p.Cys215Ter) n.885C>A c.1301C>A c.4965C>A (p.Cys1655Ter) n.5348C>A c.2154C>A (p.Cys718Ter) n.5346C>A | |
| 14 | g.91273640C>A | CA390610934 | CCDC88C | c.5072G>T (p.Cys1691Phe) c.644G>T (p.Cys215Phe) n.884G>T c.1300G>T c.4964G>T (p.Cys1655Phe) n.5347G>T c.2153G>T (p.Cys718Phe) n.5345G>T | |
| 14 | g.91273640C= | CA2154902862 | CCDC88C | c.5072G= (p.Cys1691=) c.644G= (p.Cys215=) n.884G= c.1300G= c.4964G= (p.Cys1655=) n.5347G= c.2153G= (p.Cys718=) n.5345G= | |
| 14 | g.91273640C>G | CA390610935 | CCDC88C | c.5072G>C (p.Cys1691Ser) c.644G>C (p.Cys215Ser) n.884G>C c.1300G>C c.4964G>C (p.Cys1655Ser) n.5347G>C c.2153G>C (p.Cys718Ser) n.5345G>C | |
| 14 | g.91273640C>T | CA390610936 | CCDC88C | c.5072G>A (p.Cys1691Tyr) c.644G>A (p.Cys215Tyr) n.884G>A c.1300G>A c.4964G>A (p.Cys1655Tyr) n.5347G>A c.2153G>A (p.Cys718Tyr) n.5345G>A | dbSNP |
| 14 | g.91273641A>C | CA390610937 | CCDC88C | c.5071T>G (p.Cys1691Gly) c.643T>G (p.Cys215Gly) n.883T>G c.1299T>G c.4963T>G (p.Cys1655Gly) n.5346T>G c.2152T>G (p.Cys718Gly) n.5344T>G | |
| 14 | g.91273641A>G | CA390610938 | CCDC88C | c.5071T>C (p.Cys1691Arg) c.643T>C (p.Cys215Arg) n.883T>C c.1299T>C c.4963T>C (p.Cys1655Arg) n.5346T>C c.2152T>C (p.Cys718Arg) n.5344T>C | gnomAD v4 |
| 14 | g.91273641A>T | CA390610939 | CCDC88C | c.5071T>A (p.Cys1691Ser) c.643T>A (p.Cys215Ser) n.883T>A c.1299T>A c.4963T>A (p.Cys1655Ser) n.5346T>A c.2152T>A (p.Cys718Ser) n.5344T>A | |
| 14 | g.91273642A>C | CA390610940 | CCDC88C | c.5070T>G (p.Ser1690Arg) c.642T>G (p.Ser214Arg) n.882T>G c.1298T>G c.4962T>G (p.Ser1654Arg) n.5345T>G c.2151T>G (p.Ser717Arg) n.5343T>G | |
| 14 | g.91273642A>G | CA487829182 | CCDC88C | c.5070T>C (p.Ser1690=) c.642T>C (p.Ser214=) n.882T>C c.1298T>C c.4962T>C (p.Ser1654=) n.5345T>C c.2151T>C (p.Ser717=) n.5343T>C | |
| 14 | g.91273642A>T | CA390610941 | CCDC88C | c.5070T>A (p.Ser1690Arg) c.642T>A (p.Ser214Arg) n.882T>A c.1298T>A c.4962T>A (p.Ser1654Arg) n.5345T>A c.2151T>A (p.Ser717Arg) n.5343T>A | |
| 14 | g.91273643C>A | CA390610943 | CCDC88C | c.5069G>T (p.Ser1690Ile) c.641G>T (p.Ser214Ile) n.881G>T c.1297G>T c.4961G>T (p.Ser1654Ile) n.5344G>T c.2150G>T (p.Ser717Ile) n.5342G>T | |
| 14 | g.91273643C= | CA2154902864 | CCDC88C | c.5069G= (p.Ser1690=) c.641G= (p.Ser214=) n.881G= c.1297G= c.4961G= (p.Ser1654=) n.5344G= c.2150G= (p.Ser717=) n.5342G= | |
| 14 | g.91273643C>G | CA390610944 | CCDC88C | c.5069G>C (p.Ser1690Thr) c.641G>C (p.Ser214Thr) n.881G>C c.1297G>C c.4961G>C (p.Ser1654Thr) n.5344G>C c.2150G>C (p.Ser717Thr) n.5342G>C | |
| 14 | g.91273643C>T | CA390610942 | CCDC88C | c.5069G>A (p.Ser1690Asn) c.641G>A (p.Ser214Asn) n.881G>A c.1297G>A c.4961G>A (p.Ser1654Asn) n.5344G>A c.2150G>A (p.Ser717Asn) n.5342G>A | dbSNP |
| 14 | g.91273644T>A | CA390610947 | CCDC88C | c.5068A>T (p.Ser1690Cys) c.640A>T (p.Ser214Cys) n.880A>T c.1296A>T c.4960A>T (p.Ser1654Cys) n.5343A>T c.2149A>T (p.Ser717Cys) n.5341A>T | |
| 14 | g.91273644T>C | CA390610945 | CCDC88C | c.5068A>G (p.Ser1690Gly) c.640A>G (p.Ser214Gly) n.880A>G c.1296A>G c.4960A>G (p.Ser1654Gly) n.5343A>G c.2149A>G (p.Ser717Gly) n.5341A>G | |
| 14 | g.91273644T>G | CA390610946 | CCDC88C | c.5068A>C (p.Ser1690Arg) c.640A>C (p.Ser214Arg) n.880A>C c.1296A>C c.4960A>C (p.Ser1654Arg) n.5343A>C c.2149A>C (p.Ser717Arg) n.5341A>C | |
| 14 | g.91273645G>A | CA487829188 | CCDC88C | c.5067C>T (p.Pro1689=) c.639C>T (p.Pro213=) n.879C>T c.1295C>T c.4959C>T (p.Pro1653=) n.5342C>T c.2148C>T (p.Pro716=) n.5340C>T | gnomAD v4 |
| 14 | g.91273645G>C | CA487829189 | CCDC88C | c.5067C>G (p.Pro1689=) c.639C>G (p.Pro213=) n.879C>G c.1295C>G c.4959C>G (p.Pro1653=) n.5342C>G c.2148C>G (p.Pro716=) n.5340C>G | |
| 14 | g.91273645G>T | CA487829191 | CCDC88C | c.5067C>A (p.Pro1689=) c.639C>A (p.Pro213=) n.879C>A c.1295C>A c.4959C>A (p.Pro1653=) n.5342C>A c.2148C>A (p.Pro716=) n.5340C>A | ClinVar |