| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91273392_91273422del | CA2697554088 | CCDC88C | c.5295_5325del (p.Ser1765ArgfsTer27) c.867_897del (p.Ser289ArgfsTer15) c.1523_1553del c.5187_5217del (p.Ser1729ArgfsTer27) c.2376_2406del (p.Ser792ArgfsTer27) | ClinVar |
| 14 | g.91273397T>A | CA390610093 | CCDC88C | c.5315A>T (p.Gln1772Leu) c.887A>T (p.Gln296Leu) c.1543A>T c.5207A>T (p.Gln1736Leu) c.2396A>T (p.Gln799Leu) | |
| 14 | g.91273397T>C | CA390610096 | CCDC88C | c.5315A>G (p.Gln1772Arg) c.887A>G (p.Gln296Arg) c.1543A>G c.5207A>G (p.Gln1736Arg) c.2396A>G (p.Gln799Arg) | gnomAD v4 |
| 14 | g.91273397T>G | CA390610098 | CCDC88C | c.5315A>C (p.Gln1772Pro) c.887A>C (p.Gln296Pro) c.1543A>C c.5207A>C (p.Gln1736Pro) c.2396A>C (p.Gln799Pro) | |
| 14 | g.91273398G>A | CA390610102 | CCDC88C | c.5314C>T (p.Gln1772Ter) c.886C>T (p.Gln296Ter) c.1542C>T c.5206C>T (p.Gln1736Ter) c.2395C>T (p.Gln799Ter) | gnomAD v4 |
| 14 | g.91273398G>C | CA390610104 | CCDC88C | c.5314C>G (p.Gln1772Glu) c.886C>G (p.Gln296Glu) c.1542C>G c.5206C>G (p.Gln1736Glu) c.2395C>G (p.Gln799Glu) | |
| 14 | g.91273398G>T | CA390610105 | CCDC88C | c.5314C>A (p.Gln1772Lys) c.886C>A (p.Gln296Lys) c.1542C>A c.5206C>A (p.Gln1736Lys) c.2395C>A (p.Gln799Lys) | gnomAD v4 |
| 14 | g.91273399G>A | CA487829184 | CCDC88C | c.5313C>T (p.Ala1771=) c.885C>T (p.Ala295=) c.1541C>T c.5205C>T (p.Ala1735=) c.2394C>T (p.Ala798=) | gnomAD v4 |
| 14 | g.91273399G>C | CA487829186 | CCDC88C | c.5313C>G (p.Ala1771=) c.885C>G (p.Ala295=) c.1541C>G c.5205C>G (p.Ala1735=) c.2394C>G (p.Ala798=) | |
| 14 | g.91273399G>T | CA487829185 | CCDC88C | c.5313C>A (p.Ala1771=) c.885C>A (p.Ala295=) c.1541C>A c.5205C>A (p.Ala1735=) c.2394C>A (p.Ala798=) | gnomAD v4 |
| 14 | g.91273400G>A | CA390610109 | CCDC88C | c.5312C>T (p.Ala1771Val) c.884C>T (p.Ala295Val) c.1540C>T c.5204C>T (p.Ala1735Val) c.2393C>T (p.Ala798Val) | gnomAD v4 |
| 14 | g.91273400G>C | CA390610112 | CCDC88C | c.5312C>G (p.Ala1771Gly) c.884C>G (p.Ala295Gly) c.1540C>G c.5204C>G (p.Ala1735Gly) c.2393C>G (p.Ala798Gly) | |
| 14 | g.91273400G>T | CA390610114 | CCDC88C | c.5312C>A (p.Ala1771Asp) c.884C>A (p.Ala295Asp) c.1540C>A c.5204C>A (p.Ala1735Asp) c.2393C>A (p.Ala798Asp) | gnomAD v4 |
| 14 | g.91273401C>A | CA390610121 | CCDC88C | c.5311G>T (p.Ala1771Ser) c.883G>T (p.Ala295Ser) c.1539G>T c.5203G>T (p.Ala1735Ser) c.2392G>T (p.Ala798Ser) | gnomAD v4 |
| 14 | g.91273401C= | CA2154902236 | CCDC88C | c.5311G= (p.Ala1771=) c.883G= (p.Ala295=) c.1539G= c.5203G= (p.Ala1735=) c.2392G= (p.Ala798=) | |
| 14 | g.91273401C>G | CA390610119 | CCDC88C | c.5311G>C (p.Ala1771Pro) c.883G>C (p.Ala295Pro) c.1539G>C c.5203G>C (p.Ala1735Pro) c.2392G>C (p.Ala798Pro) | |
| 14 | g.91273401C>T | CA265518236 | CCDC88C | c.5311G>A (p.Ala1771Thr) c.883G>A (p.Ala295Thr) c.1539G>A c.5203G>A (p.Ala1735Thr) c.2392G>A (p.Ala798Thr) | dbSNP gnomAD v4 |
| 14 | g.91273402C>A | CA390610124 | CCDC88C | c.5310G>T (p.Gln1770His) c.882G>T (p.Gln294His) c.1538G>T c.5202G>T (p.Gln1734His) c.2391G>T (p.Gln797His) | gnomAD v4 |
| 14 | g.91273402C>G | CA390610127 | CCDC88C | c.5310G>C (p.Gln1770His) c.882G>C (p.Gln294His) c.1538G>C c.5202G>C (p.Gln1734His) c.2391G>C (p.Gln797His) | |
| 14 | g.91273402C>T | CA487829193 | CCDC88C | c.5310G>A (p.Gln1770=) c.882G>A (p.Gln294=) c.1538G>A c.5202G>A (p.Gln1734=) c.2391G>A (p.Gln797=) | gnomAD v4 |
| 14 | g.91273402_91273403delinsCT | CA2154902239 | CCDC88C | c.5309_5310delinsAG (p.Gln1770=) c.881_882delinsAG (p.Gln294=) c.1537_1538delinsAG c.5201_5202delinsAG (p.Gln1734=) c.2390_2391delinsAG (p.Gln797=) | |
| 14 | g.91273403del | CA2154902243 | CCDC88C | c.5309del (p.Gln1770ArgfsTer?) c.881del (p.Gln294ArgfsTer20) c.1537del c.5201del (p.Gln1734ArgfsTer?) c.2390del (p.Gln797ArgfsTer?) | dbSNP |
| 14 | g.91273403T>A | CA390610129 | CCDC88C | c.5309A>T (p.Gln1770Leu) c.881A>T (p.Gln294Leu) c.1537A>T c.5201A>T (p.Gln1734Leu) c.2390A>T (p.Gln797Leu) | |
| 14 | g.91273403T>C | CA390610131 | CCDC88C | c.5309A>G (p.Gln1770Arg) c.881A>G (p.Gln294Arg) c.1537A>G c.5201A>G (p.Gln1734Arg) c.2390A>G (p.Gln797Arg) | gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273403T>G | CA390610133 | CCDC88C | c.5309A>C (p.Gln1770Pro) c.881A>C (p.Gln294Pro) c.1537A>C c.5201A>C (p.Gln1734Pro) c.2390A>C (p.Gln797Pro) | |
| 14 | g.91273404G>A | CA390610136 | CCDC88C | c.5308C>T (p.Gln1770Ter) c.880C>T (p.Gln294Ter) c.1536C>T c.5200C>T (p.Gln1734Ter) c.2389C>T (p.Gln797Ter) | ClinVar gnomAD v4 |
| 14 | g.91273404G>C | CA390610138 | CCDC88C | c.5308C>G (p.Gln1770Glu) c.880C>G (p.Gln294Glu) c.1536C>G c.5200C>G (p.Gln1734Glu) c.2389C>G (p.Gln797Glu) | |
| 14 | g.91273404G>T | CA390610140 | CCDC88C | c.5308C>A (p.Gln1770Lys) c.880C>A (p.Gln294Lys) c.1536C>A c.5200C>A (p.Gln1734Lys) c.2389C>A (p.Gln797Lys) | |
| 14 | g.91273405T>A | CA390610147 | CCDC88C | c.5307A>T (p.Arg1769Ser) c.879A>T (p.Arg293Ser) c.1535A>T c.5199A>T (p.Arg1733Ser) c.2388A>T (p.Arg796Ser) | |
| 14 | g.91273405T>C | CA487829202 | CCDC88C | c.5307A>G (p.Arg1769=) c.879A>G (p.Arg293=) c.1535A>G c.5199A>G (p.Arg1733=) c.2388A>G (p.Arg796=) | gnomAD v4 |
| 14 | g.91273405T>G | CA390610144 | CCDC88C | c.5307A>C (p.Arg1769Ser) c.879A>C (p.Arg293Ser) c.1535A>C c.5199A>C (p.Arg1733Ser) c.2388A>C (p.Arg796Ser) | |
| 14 | g.91273406C>A | CA390610149 | CCDC88C | c.5306G>T (p.Arg1769Ile) c.878G>T (p.Arg293Ile) c.1534G>T c.5198G>T (p.Arg1733Ile) c.2387G>T (p.Arg796Ile) | gnomAD v4 |
| 14 | g.91273406C>G | CA390610151 | CCDC88C | c.5306G>C (p.Arg1769Thr) c.878G>C (p.Arg293Thr) c.1534G>C c.5198G>C (p.Arg1733Thr) c.2387G>C (p.Arg796Thr) | |
| 14 | g.91273406C>T | CA390610154 | CCDC88C | c.5306G>A (p.Arg1769Lys) c.878G>A (p.Arg293Lys) c.1534G>A c.5198G>A (p.Arg1733Lys) c.2387G>A (p.Arg796Lys) | gnomAD v4 |
| 14 | g.91273407T>A | CA390610158 | CCDC88C | c.5305A>T (p.Arg1769Ter) c.877A>T (p.Arg293Ter) c.1533A>T c.5197A>T (p.Arg1733Ter) c.2386A>T (p.Arg796Ter) | |
| 14 | g.91273407T>C | CA390610160 | CCDC88C | c.5305A>G (p.Arg1769Gly) c.877A>G (p.Arg293Gly) c.1533A>G c.5197A>G (p.Arg1733Gly) c.2386A>G (p.Arg796Gly) | gnomAD v4 |
| 14 | g.91273407T>G | CA487829206 | CCDC88C | c.5305A>C (p.Arg1769=) c.877A>C (p.Arg293=) c.1533A>C c.5197A>C (p.Arg1733=) c.2386A>C (p.Arg796=) | |
| 14 | g.91273408C>A | CA487829207 | CCDC88C | c.5304G>T (p.Pro1768=) c.876G>T (p.Pro292=) c.1532G>T c.5196G>T (p.Pro1732=) c.2385G>T (p.Pro795=) | gnomAD v4 |
| 14 | g.91273408C= | CA2154902245 | CCDC88C | c.5304G= (p.Pro1768=) c.876G= (p.Pro292=) c.1532G= c.5196G= (p.Pro1732=) c.2385G= (p.Pro795=) | |
| 14 | g.91273408C>G | CA487829208 | CCDC88C | c.5304G>C (p.Pro1768=) c.876G>C (p.Pro292=) c.1532G>C c.5196G>C (p.Pro1732=) c.2385G>C (p.Pro795=) | |
| 14 | g.91273408C>T | CA7308677 | CCDC88C | c.5304G>A (p.Pro1768=) c.876G>A (p.Pro292=) c.1532G>A c.5196G>A (p.Pro1732=) c.2385G>A (p.Pro795=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273409G>A | CA7308678 | CCDC88C | c.5303C>T (p.Pro1768Leu) c.875C>T (p.Pro292Leu) c.1531C>T c.5195C>T (p.Pro1732Leu) c.2384C>T (p.Pro795Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273409G>C | CA390610166 | CCDC88C | c.5303C>G (p.Pro1768Arg) c.875C>G (p.Pro292Arg) c.1531C>G c.5195C>G (p.Pro1732Arg) c.2384C>G (p.Pro795Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273409G= | CA2154902249 | CCDC88C | c.5303C= (p.Pro1768=) c.875C= (p.Pro292=) c.1531C= c.5195C= (p.Pro1732=) c.2384C= (p.Pro795=) | |
| 14 | g.91273409G>T | CA390610169 | CCDC88C | c.5303C>A (p.Pro1768Gln) c.875C>A (p.Pro292Gln) c.1531C>A c.5195C>A (p.Pro1732Gln) c.2384C>A (p.Pro795Gln) | gnomAD v4 |
| 14 | g.91273412del | CA2575602980 | CCDC88C | c.5303del (p.Pro1768ArgfsTer?) c.875del (p.Pro292ArgfsTer22) c.1531del c.5195del (p.Pro1732ArgfsTer?) c.2384del (p.Pro795ArgfsTer?) | ClinVar gnomAD v4 |
| 14 | g.91273410G>A | CA390610174 | CCDC88C | c.5302C>T (p.Pro1768Ser) c.874C>T (p.Pro292Ser) c.1530C>T c.5194C>T (p.Pro1732Ser) c.2383C>T (p.Pro795Ser) | |
| 14 | g.91273410G>C | CA7308679 | CCDC88C | c.5302C>G (p.Pro1768Ala) c.874C>G (p.Pro292Ala) c.1530C>G c.5194C>G (p.Pro1732Ala) c.2383C>G (p.Pro795Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273410G= | CA2154902254 | CCDC88C | c.5302C= (p.Pro1768=) c.874C= (p.Pro292=) c.1530C= c.5194C= (p.Pro1732=) c.2383C= (p.Pro795=) | |
| 14 | g.91273410G>T | CA390610177 | CCDC88C | c.5302C>A (p.Pro1768Thr) c.874C>A (p.Pro292Thr) c.1530C>A c.5194C>A (p.Pro1732Thr) c.2383C>A (p.Pro795Thr) | |
| 14 | g.91273411G>A | CA265518244 | CCDC88C | c.5301C>T (p.Ala1767=) c.873C>T (p.Ala291=) c.1529C>T c.5193C>T (p.Ala1731=) c.2382C>T (p.Ala794=) | dbSNP gnomAD v4 |
| 14 | g.91273411G>C | CA487829210 | CCDC88C | c.5301C>G (p.Ala1767=) c.873C>G (p.Ala291=) c.1529C>G c.5193C>G (p.Ala1731=) c.2382C>G (p.Ala794=) | |
| 14 | g.91273411G= | CA2154902258 | CCDC88C | c.5301C= (p.Ala1767=) c.873C= (p.Ala291=) c.1529C= c.5193C= (p.Ala1731=) c.2382C= (p.Ala794=) | |
| 14 | g.91273411G>T | CA487829212 | CCDC88C | c.5301C>A (p.Ala1767=) c.873C>A (p.Ala291=) c.1529C>A c.5193C>A (p.Ala1731=) c.2382C>A (p.Ala794=) | |
| 14 | g.91273412G>A | CA390610180 | CCDC88C | c.5300C>T (p.Ala1767Val) c.872C>T (p.Ala291Val) c.1528C>T c.5192C>T (p.Ala1731Val) c.2381C>T (p.Ala794Val) | gnomAD v4 |
| 14 | g.91273412G>C | CA390610182 | CCDC88C | c.5300C>G (p.Ala1767Gly) c.872C>G (p.Ala291Gly) c.1528C>G c.5192C>G (p.Ala1731Gly) c.2381C>G (p.Ala794Gly) | gnomAD v4 |
| 14 | g.91273412G>T | CA390610185 | CCDC88C | c.5300C>A (p.Ala1767Asp) c.872C>A (p.Ala291Asp) c.1528C>A c.5192C>A (p.Ala1731Asp) c.2381C>A (p.Ala794Asp) | |
| 14 | g.91273413C>A | CA390610188 | CCDC88C | c.5299G>T (p.Ala1767Ser) c.871G>T (p.Ala291Ser) c.1527G>T c.5191G>T (p.Ala1731Ser) c.2380G>T (p.Ala794Ser) | gnomAD v4 |
| 14 | g.91273413C= | CA2154902266 | CCDC88C | c.5299G= (p.Ala1767=) c.871G= (p.Ala291=) c.1527G= c.5191G= (p.Ala1731=) c.2380G= (p.Ala794=) | |
| 14 | g.91273413C>G | CA390610190 | CCDC88C | c.5299G>C (p.Ala1767Pro) c.871G>C (p.Ala291Pro) c.1527G>C c.5191G>C (p.Ala1731Pro) c.2380G>C (p.Ala794Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273413C>T | CA390610192 | CCDC88C | c.5299G>A (p.Ala1767Thr) c.871G>A (p.Ala291Thr) c.1527G>A c.5191G>A (p.Ala1731Thr) c.2380G>A (p.Ala794Thr) | |
| 14 | g.91273414C>A | CA487829217 | CCDC88C | c.5298G>T (p.Val1766=) c.870G>T (p.Val290=) c.1526G>T c.5190G>T (p.Val1730=) c.2379G>T (p.Val793=) | gnomAD v4 |
| 14 | g.91273414C>G | CA487829215 | CCDC88C | c.5298G>C (p.Val1766=) c.870G>C (p.Val290=) c.1526G>C c.5190G>C (p.Val1730=) c.2379G>C (p.Val793=) | |
| 14 | g.91273414C>T | CA487829216 | CCDC88C | c.5298G>A (p.Val1766=) c.870G>A (p.Val290=) c.1526G>A c.5190G>A (p.Val1730=) c.2379G>A (p.Val793=) | |
| 14 | g.91273415A>C | CA390610196 | CCDC88C | c.5297T>G (p.Val1766Gly) c.869T>G (p.Val290Gly) c.1525T>G c.5189T>G (p.Val1730Gly) c.2378T>G (p.Val793Gly) | |
| 14 | g.91273415A>G | CA390610198 | CCDC88C | c.5297T>C (p.Val1766Ala) c.869T>C (p.Val290Ala) c.1525T>C c.5189T>C (p.Val1730Ala) c.2378T>C (p.Val793Ala) | |
| 14 | g.91273415A>T | CA390610200 | CCDC88C | c.5297T>A (p.Val1766Glu) c.869T>A (p.Val290Glu) c.1525T>A c.5189T>A (p.Val1730Glu) c.2378T>A (p.Val793Glu) | |
| 14 | g.91273416C>A | CA390610202 | CCDC88C | c.5296G>T (p.Val1766Leu) c.868G>T (p.Val290Leu) c.1524G>T c.5188G>T (p.Val1730Leu) c.2377G>T (p.Val793Leu) | gnomAD v4 |
| 14 | g.91273416C= | CA2154902274 | CCDC88C | c.5296G= (p.Val1766=) c.868G= (p.Val290=) c.1524G= c.5188G= (p.Val1730=) c.2377G= (p.Val793=) | |
| 14 | g.91273416C>G | CA390610204 | CCDC88C | c.5296G>C (p.Val1766Leu) c.868G>C (p.Val290Leu) c.1524G>C c.5188G>C (p.Val1730Leu) c.2377G>C (p.Val793Leu) | |
| 14 | g.91273416C>T | CA7308680 | CCDC88C | c.5296G>A (p.Val1766Met) c.868G>A (p.Val290Met) c.1524G>A c.5188G>A (p.Val1730Met) c.2377G>A (p.Val793Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273417G>A | CA7308681 | CCDC88C | c.5295C>T (p.Ser1765=) c.867C>T (p.Ser289=) c.1523C>T c.5187C>T (p.Ser1729=) c.2376C>T (p.Ser792=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273417G>C | CA390610208 | CCDC88C | c.5295C>G (p.Ser1765Arg) c.867C>G (p.Ser289Arg) c.1523C>G c.5187C>G (p.Ser1729Arg) c.2376C>G (p.Ser792Arg) | |
| 14 | g.91273417G= | CA2154902283 | CCDC88C | c.5295C= (p.Ser1765=) c.867C= (p.Ser289=) c.1523C= c.5187C= (p.Ser1729=) c.2376C= (p.Ser792=) | |
| 14 | g.91273417G>T | CA390610211 | CCDC88C | c.5295C>A (p.Ser1765Arg) c.867C>A (p.Ser289Arg) c.1523C>A c.5187C>A (p.Ser1729Arg) c.2376C>A (p.Ser792Arg) | gnomAD v4 |
| 14 | g.91273418C>A | CA390610214 | CCDC88C | c.5294G>T (p.Ser1765Ile) c.866G>T (p.Ser289Ile) c.1522G>T c.5186G>T (p.Ser1729Ile) c.2375G>T (p.Ser792Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273418C= | CA2154902288 | CCDC88C | c.5294G= (p.Ser1765=) c.866G= (p.Ser289=) c.1522G= c.5186G= (p.Ser1729=) c.2375G= (p.Ser792=) | |
| 14 | g.91273418C>G | CA390610217 | CCDC88C | c.5294G>C (p.Ser1765Thr) c.866G>C (p.Ser289Thr) c.1522G>C c.5186G>C (p.Ser1729Thr) c.2375G>C (p.Ser792Thr) | ClinVar |
| 14 | g.91273418C>T | CA390610219 | CCDC88C | c.5294G>A (p.Ser1765Asn) c.866G>A (p.Ser289Asn) c.1522G>A c.5186G>A (p.Ser1729Asn) c.2375G>A (p.Ser792Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273419T>A | CA390610222 | CCDC88C | c.5293A>T (p.Ser1765Cys) c.865A>T (p.Ser289Cys) c.1521A>T c.5185A>T (p.Ser1729Cys) c.2374A>T (p.Ser792Cys) | |
| 14 | g.91273419T>C | CA265518274 | CCDC88C | c.5293A>G (p.Ser1765Gly) c.865A>G (p.Ser289Gly) c.1521A>G c.5185A>G (p.Ser1729Gly) c.2374A>G (p.Ser792Gly) | dbSNP gnomAD v4 |
| 14 | g.91273419T>G | CA390610226 | CCDC88C | c.5293A>C (p.Ser1765Arg) c.865A>C (p.Ser289Arg) c.1521A>C c.5185A>C (p.Ser1729Arg) c.2374A>C (p.Ser792Arg) | |
| 14 | g.91273419T= | CA2154902298 | CCDC88C | c.5293A= (p.Ser1765=) c.865A= (p.Ser289=) c.1521A= c.5185A= (p.Ser1729=) c.2374A= (p.Ser792=) | |
| 14 | g.91273420G>A | CA487829227 | CCDC88C | c.5292C>T (p.Pro1764=) c.864C>T (p.Pro288=) c.1520C>T c.5184C>T (p.Pro1728=) c.2373C>T (p.Pro791=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273420G>C | CA487829228 | CCDC88C | c.5292C>G (p.Pro1764=) c.864C>G (p.Pro288=) c.1520C>G c.5184C>G (p.Pro1728=) c.2373C>G (p.Pro791=) | |
| 14 | g.91273420G= | CA2154902305 | CCDC88C | c.5292C= (p.Pro1764=) c.864C= (p.Pro288=) c.1520C= c.5184C= (p.Pro1728=) c.2373C= (p.Pro791=) | |
| 14 | g.91273420G>T | CA487829229 | CCDC88C | c.5292C>A (p.Pro1764=) c.864C>A (p.Pro288=) c.1520C>A c.5184C>A (p.Pro1728=) c.2373C>A (p.Pro791=) | gnomAD v4 |
| 14 | g.91273421G>A | CA7308682 | CCDC88C | c.5291C>T (p.Pro1764Leu) c.863C>T (p.Pro288Leu) c.1519C>T c.5183C>T (p.Pro1728Leu) c.2372C>T (p.Pro791Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273421G>C | CA390610231 | CCDC88C | c.5291C>G (p.Pro1764Arg) c.863C>G (p.Pro288Arg) c.1519C>G c.5183C>G (p.Pro1728Arg) c.2372C>G (p.Pro791Arg) | gnomAD v4 |
| 14 | g.91273421G= | CA2154902313 | CCDC88C | c.5291C= (p.Pro1764=) c.863C= (p.Pro288=) c.1519C= c.5183C= (p.Pro1728=) c.2372C= (p.Pro791=) | |
| 14 | g.91273421G>T | CA390610233 | CCDC88C | c.5291C>A (p.Pro1764His) c.863C>A (p.Pro288His) c.1519C>A c.5183C>A (p.Pro1728His) c.2372C>A (p.Pro791His) | gnomAD v4 |
| 14 | g.91273422G>A | CA390610241 | CCDC88C | c.5290C>T (p.Pro1764Ser) c.862C>T (p.Pro288Ser) c.1518C>T c.5182C>T (p.Pro1728Ser) c.2371C>T (p.Pro791Ser) | gnomAD v4 |
| 14 | g.91273422G>C | CA390610237 | CCDC88C | c.5290C>G (p.Pro1764Ala) c.862C>G (p.Pro288Ala) c.1518C>G c.5182C>G (p.Pro1728Ala) c.2371C>G (p.Pro791Ala) | gnomAD v4 |
| 14 | g.91273422G= | CA2154902319 | CCDC88C | c.5290C= (p.Pro1764=) c.862C= (p.Pro288=) c.1518C= c.5182C= (p.Pro1728=) c.2371C= (p.Pro791=) | |
| 14 | g.91273422G>T | CA7308683 | CCDC88C | c.5290C>A (p.Pro1764Thr) c.862C>A (p.Pro288Thr) c.1518C>A c.5182C>A (p.Pro1728Thr) c.2371C>A (p.Pro791Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273423T>A | CA487829231 | CCDC88C | c.5289A>T (p.Pro1763=) c.861A>T (p.Pro287=) c.1517A>T c.5181A>T (p.Pro1727=) c.2370A>T (p.Pro790=) | |
| 14 | g.91273423T>C | CA487829232 | CCDC88C | c.5289A>G (p.Pro1763=) c.861A>G (p.Pro287=) c.1517A>G c.5181A>G (p.Pro1727=) c.2370A>G (p.Pro790=) | gnomAD v4 |
| 14 | g.91273423T>G | CA487829233 | CCDC88C | c.5289A>C (p.Pro1763=) c.861A>C (p.Pro287=) c.1517A>C c.5181A>C (p.Pro1727=) c.2370A>C (p.Pro790=) | |
| 14 | g.91273424G>A | CA390610245 | CCDC88C | c.5288C>T (p.Pro1763Leu) c.860C>T (p.Pro287Leu) c.1516C>T c.5180C>T (p.Pro1727Leu) c.2369C>T (p.Pro790Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273424G>C | CA390610246 | CCDC88C | c.5288C>G (p.Pro1763Arg) c.860C>G (p.Pro287Arg) c.1516C>G c.5180C>G (p.Pro1727Arg) c.2369C>G (p.Pro790Arg) | |
| 14 | g.91273424G= | CA2154902325 | CCDC88C | c.5288C= (p.Pro1763=) c.860C= (p.Pro287=) c.1516C= c.5180C= (p.Pro1727=) c.2369C= (p.Pro790=) | |
| 14 | g.91273424G>T | CA390610249 | CCDC88C | c.5288C>A (p.Pro1763Gln) c.860C>A (p.Pro287Gln) c.1516C>A c.5180C>A (p.Pro1727Gln) c.2369C>A (p.Pro790Gln) | gnomAD v4 |
| 14 | g.91273427del | CA2626123428 | CCDC88C | c.5288del (p.Pro1763HisfsTer?) c.860del (p.Pro287HisfsTer27) c.1516del c.5180del (p.Pro1727HisfsTer?) c.2369del (p.Pro790HisfsTer?) | gnomAD v4 |
| 14 | g.91273425G>A | CA390610253 | CCDC88C | c.5287C>T (p.Pro1763Ser) c.859C>T (p.Pro287Ser) c.1515C>T c.5179C>T (p.Pro1727Ser) c.2368C>T (p.Pro790Ser) | dbSNP gnomAD v4 |
| 14 | g.91273425G>C | CA390610254 | CCDC88C | c.5287C>G (p.Pro1763Ala) c.859C>G (p.Pro287Ala) c.1515C>G c.5179C>G (p.Pro1727Ala) c.2368C>G (p.Pro790Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273425G= | CA2154902331 | CCDC88C | c.5287C= (p.Pro1763=) c.859C= (p.Pro287=) c.1515C= c.5179C= (p.Pro1727=) c.2368C= (p.Pro790=) | |
| 14 | g.91273425G>T | CA390610256 | CCDC88C | c.5287C>A (p.Pro1763Thr) c.859C>A (p.Pro287Thr) c.1515C>A c.5179C>A (p.Pro1727Thr) c.2368C>A (p.Pro790Thr) | gnomAD v4 |
| 14 | g.91273426G>A | CA487829238 | CCDC88C | c.5286C>T (p.Ala1762=) c.858C>T (p.Ala286=) c.1514C>T c.5178C>T (p.Ala1726=) c.2367C>T (p.Ala789=) | gnomAD v4 |
| 14 | g.91273426G>C | CA487829240 | CCDC88C | c.5286C>G (p.Ala1762=) c.858C>G (p.Ala286=) c.1514C>G c.5178C>G (p.Ala1726=) c.2367C>G (p.Ala789=) | |
| 14 | g.91273426G>T | CA487829242 | CCDC88C | c.5286C>A (p.Ala1762=) c.858C>A (p.Ala286=) c.1514C>A c.5178C>A (p.Ala1726=) c.2367C>A (p.Ala789=) | gnomAD v4 |
| 14 | g.91273427G>A | CA390610259 | CCDC88C | c.5285C>T (p.Ala1762Val) c.857C>T (p.Ala286Val) c.1513C>T c.5177C>T (p.Ala1726Val) c.2366C>T (p.Ala789Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273427G>C | CA390610261 | CCDC88C | c.5285C>G (p.Ala1762Gly) c.857C>G (p.Ala286Gly) c.1513C>G c.5177C>G (p.Ala1726Gly) c.2366C>G (p.Ala789Gly) | |
| 14 | g.91273427G= | CA2154902336 | CCDC88C | c.5285C= (p.Ala1762=) c.857C= (p.Ala286=) c.1513C= c.5177C= (p.Ala1726=) c.2366C= (p.Ala789=) | |
| 14 | g.91273427G>T | CA390610263 | CCDC88C | c.5285C>A (p.Ala1762Asp) c.857C>A (p.Ala286Asp) c.1513C>A c.5177C>A (p.Ala1726Asp) c.2366C>A (p.Ala789Asp) | gnomAD v4 |
| 14 | g.91273428C>A | CA390610267 | CCDC88C | c.5284G>T (p.Ala1762Ser) c.856G>T (p.Ala286Ser) c.1512G>T c.5176G>T (p.Ala1726Ser) c.2365G>T (p.Ala789Ser) | gnomAD v4 |
| 14 | g.91273428C= | CA2154902342 | CCDC88C | c.5284G= (p.Ala1762=) c.856G= (p.Ala286=) c.1512G= c.5176G= (p.Ala1726=) c.2365G= (p.Ala789=) | |
| 14 | g.91273428C>G | CA390610269 | CCDC88C | c.5284G>C (p.Ala1762Pro) c.856G>C (p.Ala286Pro) c.1512G>C c.5176G>C (p.Ala1726Pro) c.2365G>C (p.Ala789Pro) | |
| 14 | g.91273428C>T | CA7308684 | CCDC88C | c.5284G>A (p.Ala1762Thr) c.856G>A (p.Ala286Thr) c.1512G>A c.5176G>A (p.Ala1726Thr) c.2365G>A (p.Ala789Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273429C>A | CA390610274 | CCDC88C | c.5283G>T (p.Glu1761Asp) c.855G>T (p.Glu285Asp) c.1511G>T c.5175G>T (p.Glu1725Asp) c.2364G>T (p.Glu788Asp) | gnomAD v4 |
| 14 | g.91273429C>G | CA390610276 | CCDC88C | c.5283G>C (p.Glu1761Asp) c.855G>C (p.Glu285Asp) c.1511G>C c.5175G>C (p.Glu1725Asp) c.2364G>C (p.Glu788Asp) | |
| 14 | g.91273429C>T | CA487829246 | CCDC88C | c.5283G>A (p.Glu1761=) c.855G>A (p.Glu285=) c.1511G>A c.5175G>A (p.Glu1725=) c.2364G>A (p.Glu788=) | |
| 14 | g.91273430T>A | CA390610279 | CCDC88C | c.5282A>T (p.Glu1761Val) c.854A>T (p.Glu285Val) c.1510A>T c.5174A>T (p.Glu1725Val) c.2363A>T (p.Glu788Val) | |
| 14 | g.91273430T>C | CA390610283 | CCDC88C | c.5282A>G (p.Glu1761Gly) c.854A>G (p.Glu285Gly) c.1510A>G c.5174A>G (p.Glu1725Gly) c.2363A>G (p.Glu788Gly) | gnomAD v4 |
| 14 | g.91273430T>G | CA390610281 | CCDC88C | c.5282A>C (p.Glu1761Ala) c.854A>C (p.Glu285Ala) c.1510A>C c.5174A>C (p.Glu1725Ala) c.2363A>C (p.Glu788Ala) | |
| 14 | g.91273431C>A | CA390610286 | CCDC88C | c.5281G>T (p.Glu1761Ter) c.853G>T (p.Glu285Ter) c.1509G>T c.5173G>T (p.Glu1725Ter) c.2362G>T (p.Glu788Ter) | gnomAD v4 |
| 14 | g.91273431C= | CA2154902348 | CCDC88C | c.5281G= (p.Glu1761=) c.853G= (p.Glu285=) c.1509G= c.5173G= (p.Glu1725=) c.2362G= (p.Glu788=) | |
| 14 | g.91273431C>G | CA390610289 | CCDC88C | c.5281G>C (p.Glu1761Gln) c.853G>C (p.Glu285Gln) c.1509G>C c.5173G>C (p.Glu1725Gln) c.2362G>C (p.Glu788Gln) | |
| 14 | g.91273431C>T | CA7308685 | CCDC88C | c.5281G>A (p.Glu1761Lys) c.853G>A (p.Glu285Lys) c.1509G>A c.5173G>A (p.Glu1725Lys) c.2362G>A (p.Glu788Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273432G>A | CA7308686 | CCDC88C | c.5280C>T (p.Ala1760=) c.852C>T (p.Ala284=) c.1508C>T c.5172C>T (p.Ala1724=) c.2361C>T (p.Ala787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273432G>C | CA7308687 | CCDC88C | c.5280C>G (p.Ala1760=) c.852C>G (p.Ala284=) c.1508C>G c.5172C>G (p.Ala1724=) c.2361C>G (p.Ala787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273432G= | CA2154902351 | CCDC88C | c.5280C= (p.Ala1760=) c.852C= (p.Ala284=) c.1508C= c.5172C= (p.Ala1724=) c.2361C= (p.Ala787=) | |
| 14 | g.91273432G>T | CA487829252 | CCDC88C | c.5280C>A (p.Ala1760=) c.852C>A (p.Ala284=) c.1508C>A c.5172C>A (p.Ala1724=) c.2361C>A (p.Ala787=) | gnomAD v4 |
| 14 | g.91273433G>A | CA390610298 | CCDC88C | c.5279C>T (p.Ala1760Val) c.851C>T (p.Ala284Val) c.1507C>T c.5171C>T (p.Ala1724Val) c.2360C>T (p.Ala787Val) | gnomAD v4 |
| 14 | g.91273433G>C | CA390610301 | CCDC88C | c.5279C>G (p.Ala1760Gly) c.851C>G (p.Ala284Gly) c.1507C>G c.5171C>G (p.Ala1724Gly) c.2360C>G (p.Ala787Gly) | |
| 14 | g.91273433G>T | CA390610303 | CCDC88C | c.5279C>A (p.Ala1760Asp) c.851C>A (p.Ala284Asp) c.1507C>A c.5171C>A (p.Ala1724Asp) c.2360C>A (p.Ala787Asp) | |
| 14 | g.91273434C>A | CA390610307 | CCDC88C | c.5278G>T (p.Ala1760Ser) c.850G>T (p.Ala284Ser) c.1506G>T c.5170G>T (p.Ala1724Ser) c.2359G>T (p.Ala787Ser) | gnomAD v4 |
| 14 | g.91273434C= | CA2154902356 | CCDC88C | c.5278G= (p.Ala1760=) c.850G= (p.Ala284=) c.1506G= c.5170G= (p.Ala1724=) c.2359G= (p.Ala787=) | |
| 14 | g.91273434C>G | CA390610309 | CCDC88C | c.5278G>C (p.Ala1760Pro) c.850G>C (p.Ala284Pro) c.1506G>C c.5170G>C (p.Ala1724Pro) c.2359G>C (p.Ala787Pro) | |
| 14 | g.91273434C>T | CA390610311 | CCDC88C | c.5278G>A (p.Ala1760Thr) c.850G>A (p.Ala284Thr) c.1506G>A c.5170G>A (p.Ala1724Thr) c.2359G>A (p.Ala787Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273435C>A | CA390610314 | CCDC88C | c.5277G>T (p.Glu1759Asp) c.849G>T (p.Glu283Asp) c.1505G>T c.5169G>T (p.Glu1723Asp) c.2358G>T (p.Glu786Asp) | gnomAD v4 |
| 14 | g.91273435C= | CA2154902360 | CCDC88C | c.5277G= (p.Glu1759=) c.849G= (p.Glu283=) c.1505G= c.5169G= (p.Glu1723=) c.2358G= (p.Glu786=) | |
| 14 | g.91273435C>G | CA390610316 | CCDC88C | c.5277G>C (p.Glu1759Asp) c.849G>C (p.Glu283Asp) c.1505G>C c.5169G>C (p.Glu1723Asp) c.2358G>C (p.Glu786Asp) | gnomAD v4 |
| 14 | g.91273435C>T | CA265518321 | CCDC88C | c.5277G>A (p.Glu1759=) c.849G>A (p.Glu283=) c.1505G>A c.5169G>A (p.Glu1723=) c.2358G>A (p.Glu786=) | dbSNP |
| 14 | g.91273435_91273439delinsCTCAG | CA2154902361 | CCDC88C | c.5273_5277delinsCTGAG (p.Thr1758=) c.845_849delinsCTGAG (p.Thr282=) c.1501_1505delinsCTGAG c.5165_5169delinsCTGAG (p.Thr1722=) c.2354_2358delinsCTGAG (p.Thr785=) | |
| 14 | g.91273436T>A | CA390610318 | CCDC88C | c.5276A>T (p.Glu1759Val) c.848A>T (p.Glu283Val) c.1504A>T c.5168A>T (p.Glu1723Val) c.2357A>T (p.Glu786Val) | |
| 14 | g.91273436T>C | CA390610322 | CCDC88C | c.5276A>G (p.Glu1759Gly) c.848A>G (p.Glu283Gly) c.1504A>G c.5168A>G (p.Glu1723Gly) c.2357A>G (p.Glu786Gly) | gnomAD v4 |
| 14 | g.91273436T>G | CA390610320 | CCDC88C | c.5276A>C (p.Glu1759Ala) c.848A>C (p.Glu283Ala) c.1504A>C c.5168A>C (p.Glu1723Ala) c.2357A>C (p.Glu786Ala) | |
| 14 | g.91273442_91273445del | CA487829257 | CCDC88C | c.5273_5276del (p.Thr1758ArgfsTer?) c.845_848del (p.Thr282ArgfsTer?) c.1501_1504del c.5165_5168del (p.Thr1722ArgfsTer?) c.2354_2357del (p.Thr785ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273437C>A | CA390610326 | CCDC88C | c.5275G>T (p.Glu1759Ter) c.847G>T (p.Glu283Ter) c.1503G>T c.5167G>T (p.Glu1723Ter) c.2356G>T (p.Glu786Ter) | gnomAD v4 |
| 14 | g.91273437C>G | CA390610328 | CCDC88C | c.5275G>C (p.Glu1759Gln) c.847G>C (p.Glu283Gln) c.1503G>C c.5167G>C (p.Glu1723Gln) c.2356G>C (p.Glu786Gln) | |
| 14 | g.91273437C>T | CA390610330 | CCDC88C | c.5275G>A (p.Glu1759Lys) c.847G>A (p.Glu283Lys) c.1503G>A c.5167G>A (p.Glu1723Lys) c.2356G>A (p.Glu786Lys) | gnomAD v4 |
| 14 | g.91273438A>C | CA487829261 | CCDC88C | c.5274T>G (p.Thr1758=) c.846T>G (p.Thr282=) c.1502T>G c.5166T>G (p.Thr1722=) c.2355T>G (p.Thr785=) | |
| 14 | g.91273438A>G | CA487829260 | CCDC88C | c.5274T>C (p.Thr1758=) c.846T>C (p.Thr282=) c.1502T>C c.5166T>C (p.Thr1722=) c.2355T>C (p.Thr785=) | gnomAD v4 |
| 14 | g.91273438A>T | CA487829259 | CCDC88C | c.5274T>A (p.Thr1758=) c.846T>A (p.Thr282=) c.1502T>A c.5166T>A (p.Thr1722=) c.2355T>A (p.Thr785=) | |
| 14 | g.91273439G>A | CA390610333 | CCDC88C | c.5273C>T (p.Thr1758Ile) c.845C>T (p.Thr282Ile) c.1501C>T c.5165C>T (p.Thr1722Ile) c.2354C>T (p.Thr785Ile) | gnomAD v4 |
| 14 | g.91273439G>C | CA390610335 | CCDC88C | c.5273C>G (p.Thr1758Ser) c.845C>G (p.Thr282Ser) c.1501C>G c.5165C>G (p.Thr1722Ser) c.2354C>G (p.Thr785Ser) | |
| 14 | g.91273439G>T | CA390610337 | CCDC88C | c.5273C>A (p.Thr1758Asn) c.845C>A (p.Thr282Asn) c.1501C>A c.5165C>A (p.Thr1722Asn) c.2354C>A (p.Thr785Asn) | gnomAD v4 |
| 14 | g.91273440T>A | CA390610341 | CCDC88C | c.5272A>T (p.Thr1758Ser) c.844A>T (p.Thr282Ser) c.1500A>T c.5164A>T (p.Thr1722Ser) c.2353A>T (p.Thr785Ser) | |
| 14 | g.91273440T>C | CA390610343 | CCDC88C | c.5272A>G (p.Thr1758Ala) c.844A>G (p.Thr282Ala) c.1500A>G c.5164A>G (p.Thr1722Ala) c.2353A>G (p.Thr785Ala) | gnomAD v4 |
| 14 | g.91273440T>G | CA390610345 | CCDC88C | c.5272A>C (p.Thr1758Pro) c.844A>C (p.Thr282Pro) c.1500A>C c.5164A>C (p.Thr1722Pro) c.2353A>C (p.Thr785Pro) | |
| 14 | g.91273441C>A | CA487829266 | CCDC88C | c.5271G>T (p.Leu1757=) c.843G>T (p.Leu281=) c.1499G>T c.5163G>T (p.Leu1721=) c.2352G>T (p.Leu784=) | gnomAD v4 |
| 14 | g.91273441C= | CA2154902368 | CCDC88C | c.5271G= (p.Leu1757=) c.843G= (p.Leu281=) c.1499G= c.5163G= (p.Leu1721=) c.2352G= (p.Leu784=) | |
| 14 | g.91273441C>G | CA487829270 | CCDC88C | c.5271G>C (p.Leu1757=) c.843G>C (p.Leu281=) c.1499G>C c.5163G>C (p.Leu1721=) c.2352G>C (p.Leu784=) | |
| 14 | g.91273441C>T | CA487829267 | CCDC88C | c.5271G>A (p.Leu1757=) c.843G>A (p.Leu281=) c.1499G>A c.5163G>A (p.Leu1721=) c.2352G>A (p.Leu784=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273442A>C | CA390610354 | CCDC88C | c.5270T>G (p.Leu1757Arg) c.842T>G (p.Leu281Arg) c.1498T>G c.5162T>G (p.Leu1721Arg) c.2351T>G (p.Leu784Arg) | |
| 14 | g.91273442A>G | CA390610351 | CCDC88C | c.5270T>C (p.Leu1757Pro) c.842T>C (p.Leu281Pro) c.1498T>C c.5162T>C (p.Leu1721Pro) c.2351T>C (p.Leu784Pro) | |
| 14 | g.91273442A>T | CA390610349 | CCDC88C | c.5270T>A (p.Leu1757Gln) c.842T>A (p.Leu281Gln) c.1498T>A c.5162T>A (p.Leu1721Gln) c.2351T>A (p.Leu784Gln) | gnomAD v4 |
| 14 | g.91273443G>A | CA487829272 | CCDC88C | c.5269C>T (p.Leu1757=) c.841C>T (p.Leu281=) c.1497C>T c.5161C>T (p.Leu1721=) c.2350C>T (p.Leu784=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273443G>C | CA390610357 | CCDC88C | c.5269C>G (p.Leu1757Val) c.841C>G (p.Leu281Val) c.1497C>G c.5161C>G (p.Leu1721Val) c.2350C>G (p.Leu784Val) | |
| 14 | g.91273443G= | CA2154902372 | CCDC88C | c.5269C= (p.Leu1757=) c.841C= (p.Leu281=) c.1497C= c.5161C= (p.Leu1721=) c.2350C= (p.Leu784=) | |
| 14 | g.91273443G>T | CA390610359 | CCDC88C | c.5269C>A (p.Leu1757Met) c.841C>A (p.Leu281Met) c.1497C>A c.5161C>A (p.Leu1721Met) c.2350C>A (p.Leu784Met) | gnomAD v4 |
| 14 | g.91273444T>A | CA390610363 | CCDC88C | c.5268A>T (p.Arg1756Ser) c.840A>T (p.Arg280Ser) c.1496A>T c.5160A>T (p.Arg1720Ser) c.2349A>T (p.Arg783Ser) | gnomAD v4 |
| 14 | g.91273444T>C | CA487829274 | CCDC88C | c.5268A>G (p.Arg1756=) c.840A>G (p.Arg280=) c.1496A>G c.5160A>G (p.Arg1720=) c.2349A>G (p.Arg783=) | |
| 14 | g.91273444T>G | CA390610365 | CCDC88C | c.5268A>C (p.Arg1756Ser) c.840A>C (p.Arg280Ser) c.1496A>C c.5160A>C (p.Arg1720Ser) c.2349A>C (p.Arg783Ser) | |
| 14 | g.91273445C>A | CA390610368 | CCDC88C | c.5267G>T (p.Arg1756Ile) c.839G>T (p.Arg280Ile) c.1495G>T c.5159G>T (p.Arg1720Ile) c.2348G>T (p.Arg783Ile) | gnomAD v4 |
| 14 | g.91273445C>G | CA390610371 | CCDC88C | c.5267G>C (p.Arg1756Thr) c.839G>C (p.Arg280Thr) c.1495G>C c.5159G>C (p.Arg1720Thr) c.2348G>C (p.Arg783Thr) | |
| 14 | g.91273445C>T | CA390610373 | CCDC88C | c.5267G>A (p.Arg1756Lys) c.839G>A (p.Arg280Lys) c.1495G>A c.5159G>A (p.Arg1720Lys) c.2348G>A (p.Arg783Lys) | |
| 14 | g.91273445_91273447delinsCTG | CA2154902376 | CCDC88C | c.5265_5267delinsCAG (p.Phe1755=) c.837_839delinsCAG (p.Phe279=) c.1493_1495delinsCAG c.5157_5159delinsCAG (p.Phe1719=) c.2346_2348delinsCAG (p.Phe782=) | |
| 14 | g.91273446T>A | CA390610376 | CCDC88C | c.5266A>T (p.Arg1756Ter) c.838A>T (p.Arg280Ter) c.1494A>T c.5158A>T (p.Arg1720Ter) c.2347A>T (p.Arg783Ter) | |
| 14 | g.91273446T>C | CA390610377 | CCDC88C | c.5266A>G (p.Arg1756Gly) c.838A>G (p.Arg280Gly) c.1494A>G c.5158A>G (p.Arg1720Gly) c.2347A>G (p.Arg783Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273446T>G | CA487829275 | CCDC88C | c.5266A>C (p.Arg1756=) c.838A>C (p.Arg280=) c.1494A>C c.5158A>C (p.Arg1720=) c.2347A>C (p.Arg783=) | |
| 14 | g.91273446T= | CA2154902382 | CCDC88C | c.5266A= (p.Arg1756=) c.838A= (p.Arg280=) c.1494A= c.5158A= (p.Arg1720=) c.2347A= (p.Arg783=) | |
| 14 | g.91273446_91273447del | CA913190512 | CCDC88C | c.5265_5266del (p.Phe1755LeufsTer4) c.837_838del (p.Phe279LeufsTer4) c.1493_1494del c.5157_5158del (p.Phe1719LeufsTer4) c.2346_2347del (p.Phe782LeufsTer4) | ClinVar dbSNP |
| 14 | g.91273447G>A | CA487829276 | CCDC88C | c.5265C>T (p.Phe1755=) c.837C>T (p.Phe279=) c.1493C>T c.5157C>T (p.Phe1719=) c.2346C>T (p.Phe782=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273447G>C | CA390610380 | CCDC88C | c.5265C>G (p.Phe1755Leu) c.837C>G (p.Phe279Leu) c.1493C>G c.5157C>G (p.Phe1719Leu) c.2346C>G (p.Phe782Leu) | |
| 14 | g.91273447G= | CA2154902385 | CCDC88C | c.5265C= (p.Phe1755=) c.837C= (p.Phe279=) c.1493C= c.5157C= (p.Phe1719=) c.2346C= (p.Phe782=) | |
| 14 | g.91273447G>T | CA390610381 | CCDC88C | c.5265C>A (p.Phe1755Leu) c.837C>A (p.Phe279Leu) c.1493C>A c.5157C>A (p.Phe1719Leu) c.2346C>A (p.Phe782Leu) | |
| 14 | g.91273448A>C | CA390610384 | CCDC88C | c.5264T>G (p.Phe1755Cys) c.836T>G (p.Phe279Cys) c.1492T>G c.5156T>G (p.Phe1719Cys) c.2345T>G (p.Phe782Cys) | |
| 14 | g.91273448A>G | CA390610386 | CCDC88C | c.5264T>C (p.Phe1755Ser) c.836T>C (p.Phe279Ser) c.1492T>C c.5156T>C (p.Phe1719Ser) c.2345T>C (p.Phe782Ser) | |
| 14 | g.91273448A>T | CA390610388 | CCDC88C | c.5264T>A (p.Phe1755Tyr) c.836T>A (p.Phe279Tyr) c.1492T>A c.5156T>A (p.Phe1719Tyr) c.2345T>A (p.Phe782Tyr) | |
| 14 | g.91273449dup | CA709862266 | CCDC88C | c.5264dup (p.Arg1756GlnfsTer4) c.836dup (p.Arg280GlnfsTer4) c.1492dup c.5156dup (p.Arg1720GlnfsTer4) c.2345dup (p.Arg783GlnfsTer4) | dbSNP |
| 14 | g.91273449A>C | CA390610391 | CCDC88C | c.5263T>G (p.Phe1755Val) c.835T>G (p.Phe279Val) c.1491T>G c.5155T>G (p.Phe1719Val) c.2344T>G (p.Phe782Val) | |
| 14 | g.91273449A>G | CA390610395 | CCDC88C | c.5263T>C (p.Phe1755Leu) c.835T>C (p.Phe279Leu) c.1491T>C c.5155T>C (p.Phe1719Leu) c.2344T>C (p.Phe782Leu) | |
| 14 | g.91273449A>T | CA390610393 | CCDC88C | c.5263T>A (p.Phe1755Ile) c.835T>A (p.Phe279Ile) c.1491T>A c.5155T>A (p.Phe1719Ile) c.2344T>A (p.Phe782Ile) | |
| 14 | g.91273450G>A | CA487829277 | CCDC88C | c.5262C>T (p.Asn1754=) c.834C>T (p.Asn278=) c.1490C>T c.5154C>T (p.Asn1718=) c.2343C>T (p.Asn781=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273450G>C | CA390610397 | CCDC88C | c.5262C>G (p.Asn1754Lys) c.834C>G (p.Asn278Lys) c.1490C>G c.5154C>G (p.Asn1718Lys) c.2343C>G (p.Asn781Lys) | |
| 14 | g.91273450G= | CA2154902394 | CCDC88C | c.5262C= (p.Asn1754=) c.834C= (p.Asn278=) c.1490C= c.5154C= (p.Asn1718=) c.2343C= (p.Asn781=) | |
| 14 | g.91273450G>T | CA390610399 | CCDC88C | c.5262C>A (p.Asn1754Lys) c.834C>A (p.Asn278Lys) c.1490C>A c.5154C>A (p.Asn1718Lys) c.2343C>A (p.Asn781Lys) | |
| 14 | g.91273451T>A | CA390610402 | CCDC88C | c.5261A>T (p.Asn1754Ile) c.833A>T (p.Asn278Ile) c.1489A>T c.5153A>T (p.Asn1718Ile) c.2342A>T (p.Asn781Ile) | gnomAD v4 |
| 14 | g.91273451T>C | CA390610404 | CCDC88C | c.5261A>G (p.Asn1754Ser) c.833A>G (p.Asn278Ser) c.1489A>G c.5153A>G (p.Asn1718Ser) c.2342A>G (p.Asn781Ser) | gnomAD v4 |
| 14 | g.91273451T>G | CA390610405 | CCDC88C | c.5261A>C (p.Asn1754Thr) c.833A>C (p.Asn278Thr) c.1489A>C c.5153A>C (p.Asn1718Thr) c.2342A>C (p.Asn781Thr) | |
| 14 | g.91273453del | CA2626123430 | CCDC88C | c.5261del (p.Asn1754ThrfsTer4) c.833del (p.Asn278ThrfsTer4) c.1489del c.5153del (p.Asn1718ThrfsTer4) c.2342del (p.Asn781ThrfsTer4) | gnomAD v4 |
| 14 | g.91273452T>A | CA390610408 | CCDC88C | c.5260A>T (p.Asn1754Tyr) c.832A>T (p.Asn278Tyr) c.1488A>T c.5152A>T (p.Asn1718Tyr) c.2341A>T (p.Asn781Tyr) | |
| 14 | g.91273452T>C | CA390610410 | CCDC88C | c.5260A>G (p.Asn1754Asp) c.832A>G (p.Asn278Asp) c.1488A>G c.5152A>G (p.Asn1718Asp) c.2341A>G (p.Asn781Asp) | gnomAD v4 |
| 14 | g.91273452T>G | CA390610411 | CCDC88C | c.5260A>C (p.Asn1754His) c.832A>C (p.Asn278His) c.1488A>C c.5152A>C (p.Asn1718His) c.2341A>C (p.Asn781His) | |
| 14 | g.91273453T>A | CA487829278 | CCDC88C | c.5259A>T (p.Pro1753=) c.831A>T (p.Pro277=) c.1487A>T c.5151A>T (p.Pro1717=) c.2340A>T (p.Pro780=) | |
| 14 | g.91273453T>C | CA487829279 | CCDC88C | c.5259A>G (p.Pro1753=) c.831A>G (p.Pro277=) c.1487A>G c.5151A>G (p.Pro1717=) c.2340A>G (p.Pro780=) | |
| 14 | g.91273453T>G | CA487829280 | CCDC88C | c.5259A>C (p.Pro1753=) c.831A>C (p.Pro277=) c.1487A>C c.5151A>C (p.Pro1717=) c.2340A>C (p.Pro780=) | |
| 14 | g.91273454G>A | CA390610414 | CCDC88C | c.5258C>T (p.Pro1753Leu) c.830C>T (p.Pro277Leu) c.1486C>T c.5150C>T (p.Pro1717Leu) c.2339C>T (p.Pro780Leu) | COSMIC COSMIC COSMIC |
| 14 | g.91273454G>C | CA390610416 | CCDC88C | c.5258C>G (p.Pro1753Arg) c.830C>G (p.Pro277Arg) c.1486C>G c.5150C>G (p.Pro1717Arg) c.2339C>G (p.Pro780Arg) | gnomAD v4 |
| 14 | g.91273454G= | CA2154902397 | CCDC88C | c.5258C= (p.Pro1753=) c.830C= (p.Pro277=) c.1486C= c.5150C= (p.Pro1717=) c.2339C= (p.Pro780=) | |
| 14 | g.91273454G>T | CA390610418 | CCDC88C | c.5258C>A (p.Pro1753Gln) c.830C>A (p.Pro277Gln) c.1486C>A c.5150C>A (p.Pro1717Gln) c.2339C>A (p.Pro780Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273455G>A | CA265518325 | CCDC88C | c.5257C>T (p.Pro1753Ser) c.829C>T (p.Pro277Ser) c.1485C>T c.5149C>T (p.Pro1717Ser) c.2338C>T (p.Pro780Ser) | dbSNP gnomAD v4 |
| 14 | g.91273455G>C | CA390610425 | CCDC88C | c.5257C>G (p.Pro1753Ala) c.829C>G (p.Pro277Ala) c.1485C>G c.5149C>G (p.Pro1717Ala) c.2338C>G (p.Pro780Ala) | |
| 14 | g.91273455G= | CA2154902404 | CCDC88C | c.5257C= (p.Pro1753=) c.829C= (p.Pro277=) c.1485C= c.5149C= (p.Pro1717=) c.2338C= (p.Pro780=) | |
| 14 | g.91273455G>T | CA390610422 | CCDC88C | c.5257C>A (p.Pro1753Thr) c.829C>A (p.Pro277Thr) c.1485C>A c.5149C>A (p.Pro1717Thr) c.2338C>A (p.Pro780Thr) | gnomAD v4 |
| 14 | g.91273456C>A | CA390610431 | CCDC88C | c.5256G>T (p.Lys1752Asn) c.828G>T (p.Lys276Asn) c.1484G>T c.5148G>T (p.Lys1716Asn) c.2337G>T (p.Lys779Asn) | gnomAD v4 |
| 14 | g.91273456C= | CA2154902415 | CCDC88C | c.5256G= (p.Lys1752=) c.828G= (p.Lys276=) c.1484G= c.5148G= (p.Lys1716=) c.2337G= (p.Lys779=) | |
| 14 | g.91273456C>G | CA390610429 | CCDC88C | c.5256G>C (p.Lys1752Asn) c.828G>C (p.Lys276Asn) c.1484G>C c.5148G>C (p.Lys1716Asn) c.2337G>C (p.Lys779Asn) | |
| 14 | g.91273456C>T | CA487829281 | CCDC88C | c.5256G>A (p.Lys1752=) c.828G>A (p.Lys276=) c.1484G>A c.5148G>A (p.Lys1716=) c.2337G>A (p.Lys779=) | dbSNP |
| 14 | g.91273457T>A | CA390610441 | CCDC88C | c.5255A>T (p.Lys1752Met) c.827A>T (p.Lys276Met) c.1483A>T c.5147A>T (p.Lys1716Met) c.2336A>T (p.Lys779Met) | |
| 14 | g.91273457T>C | CA390610436 | CCDC88C | c.5255A>G (p.Lys1752Arg) c.827A>G (p.Lys276Arg) c.1483A>G c.5147A>G (p.Lys1716Arg) c.2336A>G (p.Lys779Arg) | |
| 14 | g.91273457T>G | CA390610439 | CCDC88C | c.5255A>C (p.Lys1752Thr) c.827A>C (p.Lys276Thr) c.1483A>C c.5147A>C (p.Lys1716Thr) c.2336A>C (p.Lys779Thr) | |
| 14 | g.91273458T>A | CA390610444 | CCDC88C | c.5254A>T (p.Lys1752Ter) c.826A>T (p.Lys276Ter) c.1482A>T c.5146A>T (p.Lys1716Ter) c.2335A>T (p.Lys779Ter) | |
| 14 | g.91273458T>C | CA390610447 | CCDC88C | c.5254A>G (p.Lys1752Glu) c.826A>G (p.Lys276Glu) c.1482A>G c.5146A>G (p.Lys1716Glu) c.2335A>G (p.Lys779Glu) | |
| 14 | g.91273458T>G | CA390610449 | CCDC88C | c.5254A>C (p.Lys1752Gln) c.826A>C (p.Lys276Gln) c.1482A>C c.5146A>C (p.Lys1716Gln) c.2335A>C (p.Lys779Gln) | |
| 14 | g.91273459T>A | CA487829282 | CCDC88C | c.5253A>T (p.Val1751=) c.825A>T (p.Val275=) c.1481A>T c.5145A>T (p.Val1715=) c.2334A>T (p.Val778=) | |
| 14 | g.91273459T>C | CA487829284 | CCDC88C | c.5253A>G (p.Val1751=) c.825A>G (p.Val275=) c.1481A>G c.5145A>G (p.Val1715=) c.2334A>G (p.Val778=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273459T>G | CA487829283 | CCDC88C | c.5253A>C (p.Val1751=) c.825A>C (p.Val275=) c.1481A>C c.5145A>C (p.Val1715=) c.2334A>C (p.Val778=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273459T= | CA2154902420 | CCDC88C | c.5253A= (p.Val1751=) c.825A= (p.Val275=) c.1481A= c.5145A= (p.Val1715=) c.2334A= (p.Val778=) | |
| 14 | g.91273460A>C | CA390610452 | CCDC88C | c.5252T>G (p.Val1751Gly) c.824T>G (p.Val275Gly) c.1480T>G c.5144T>G (p.Val1715Gly) c.2333T>G (p.Val778Gly) | |
| 14 | g.91273460A>G | CA390610454 | CCDC88C | c.5252T>C (p.Val1751Ala) c.824T>C (p.Val275Ala) c.1480T>C c.5144T>C (p.Val1715Ala) c.2333T>C (p.Val778Ala) | gnomAD v4 |
| 14 | g.91273460A>T | CA390610455 | CCDC88C | c.5252T>A (p.Val1751Glu) c.824T>A (p.Val275Glu) c.1480T>A c.5144T>A (p.Val1715Glu) c.2333T>A (p.Val778Glu) | |
| 14 | g.91273461del | CA2739278572 | CCDC88C | c.5251del (p.Val1751Ter) c.823del (p.Val275Ter) c.1479del c.5143del (p.Val1715Ter) c.2332del (p.Val778Ter) | ClinVar |
| 14 | g.91273461C>A | CA7308689 | CCDC88C | c.5251G>T (p.Val1751Leu) c.823G>T (p.Val275Leu) c.1479G>T c.5143G>T (p.Val1715Leu) c.2332G>T (p.Val778Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273461C= | CA2154902432 | CCDC88C | c.5251G= (p.Val1751=) c.823G= (p.Val275=) c.1479G= c.5143G= (p.Val1715=) c.2332G= (p.Val778=) | |
| 14 | g.91273461C>G | CA390610459 | CCDC88C | c.5251G>C (p.Val1751Leu) c.823G>C (p.Val275Leu) c.1479G>C c.5143G>C (p.Val1715Leu) c.2332G>C (p.Val778Leu) | gnomAD v4 |
| 14 | g.91273461C>T | CA7308688 | CCDC88C | c.5251G>A (p.Val1751Ile) c.823G>A (p.Val275Ile) c.1479G>A c.5143G>A (p.Val1715Ile) c.2332G>A (p.Val778Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273462G>A | CA487829285 | CCDC88C | c.5250C>T (p.Tyr1750=) c.822C>T (p.Tyr274=) c.1478C>T c.5142C>T (p.Tyr1714=) c.2331C>T (p.Tyr777=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91273462G>C | CA390610465 | CCDC88C | c.5250C>G (p.Tyr1750Ter) c.822C>G (p.Tyr274Ter) c.1478C>G c.5142C>G (p.Tyr1714Ter) c.2331C>G (p.Tyr777Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273462G= | CA2154902444 | CCDC88C | c.5250C= (p.Tyr1750=) c.822C= (p.Tyr274=) c.1478C= c.5142C= (p.Tyr1714=) c.2331C= (p.Tyr777=) | |
| 14 | g.91273462G>T | CA390610467 | CCDC88C | c.5250C>A (p.Tyr1750Ter) c.822C>A (p.Tyr274Ter) c.1478C>A c.5142C>A (p.Tyr1714Ter) c.2331C>A (p.Tyr777Ter) | COSMIC COSMIC COSMIC |
| 14 | g.91273463T>A | CA390610470 | CCDC88C | c.5249A>T (p.Tyr1750Phe) c.821A>T (p.Tyr274Phe) c.1477A>T c.5141A>T (p.Tyr1714Phe) c.2330A>T (p.Tyr777Phe) | |
| 14 | g.91273463T>C | CA390610474 | CCDC88C | c.5249A>G (p.Tyr1750Cys) c.821A>G (p.Tyr274Cys) c.1477A>G c.5141A>G (p.Tyr1714Cys) c.2330A>G (p.Tyr777Cys) | gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273463T>G | CA390610472 | CCDC88C | c.5249A>C (p.Tyr1750Ser) c.821A>C (p.Tyr274Ser) c.1477A>C c.5141A>C (p.Tyr1714Ser) c.2330A>C (p.Tyr777Ser) | |
| 14 | g.91273464A>C | CA390610478 | CCDC88C | c.5248T>G (p.Tyr1750Asp) c.820T>G (p.Tyr274Asp) c.1476T>G c.5140T>G (p.Tyr1714Asp) c.2329T>G (p.Tyr777Asp) | |
| 14 | g.91273464A>G | CA390610480 | CCDC88C | c.5248T>C (p.Tyr1750His) c.820T>C (p.Tyr274His) c.1476T>C c.5140T>C (p.Tyr1714His) c.2329T>C (p.Tyr777His) | |
| 14 | g.91273464A>T | CA390610481 | CCDC88C | c.5248T>A (p.Tyr1750Asn) c.820T>A (p.Tyr274Asn) c.1476T>A c.5140T>A (p.Tyr1714Asn) c.2329T>A (p.Tyr777Asn) | |
| 14 | g.91273465C>A | CA390610483 | CCDC88C | c.5247G>T (p.Gln1749His) c.819G>T (p.Gln273His) c.1475G>T c.5139G>T (p.Gln1713His) c.2328G>T (p.Gln776His) | gnomAD v4 |
| 14 | g.91273465C>G | CA390610485 | CCDC88C | c.5247G>C (p.Gln1749His) c.819G>C (p.Gln273His) c.1475G>C c.5139G>C (p.Gln1713His) c.2328G>C (p.Gln776His) | |
| 14 | g.91273465C>T | CA487829286 | CCDC88C | c.5247G>A (p.Gln1749=) c.819G>A (p.Gln273=) c.1475G>A c.5139G>A (p.Gln1713=) c.2328G>A (p.Gln776=) | gnomAD v4 |
| 14 | g.91273466T>A | CA390610489 | CCDC88C | c.5246A>T (p.Gln1749Leu) c.818A>T (p.Gln273Leu) c.1474A>T c.5138A>T (p.Gln1713Leu) c.2327A>T (p.Gln776Leu) | |
| 14 | g.91273466T>C | CA390610491 | CCDC88C | c.5246A>G (p.Gln1749Arg) c.818A>G (p.Gln273Arg) c.1474A>G c.5138A>G (p.Gln1713Arg) c.2327A>G (p.Gln776Arg) | dbSNP |
| 14 | g.91273466T>G | CA390610493 | CCDC88C | c.5246A>C (p.Gln1749Pro) c.818A>C (p.Gln273Pro) c.1474A>C c.5138A>C (p.Gln1713Pro) c.2327A>C (p.Gln776Pro) | |
| 14 | g.91273466T= | CA2154902451 | CCDC88C | c.5246A= (p.Gln1749=) c.818A= (p.Gln273=) c.1474A= c.5138A= (p.Gln1713=) c.2327A= (p.Gln776=) | |
| 14 | g.91273467G>A | CA390610496 | CCDC88C | c.5245C>T (p.Gln1749Ter) c.817C>T (p.Gln273Ter) c.1473C>T c.5137C>T (p.Gln1713Ter) c.2326C>T (p.Gln776Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273467G>C | CA390610497 | CCDC88C | c.5245C>G (p.Gln1749Glu) c.817C>G (p.Gln273Glu) c.1473C>G c.5137C>G (p.Gln1713Glu) c.2326C>G (p.Gln776Glu) | |
| 14 | g.91273467G= | CA2154902453 | CCDC88C | c.5245C= (p.Gln1749=) c.817C= (p.Gln273=) c.1473C= c.5137C= (p.Gln1713=) c.2326C= (p.Gln776=) | |
| 14 | g.91273467G>T | CA390610499 | CCDC88C | c.5245C>A (p.Gln1749Lys) c.817C>A (p.Gln273Lys) c.1473C>A c.5137C>A (p.Gln1713Lys) c.2326C>A (p.Gln776Lys) | |
| 14 | g.91273468C>A | CA487829288 | CCDC88C | c.5244G>T (p.Gly1748=) c.816G>T (p.Gly272=) c.1472G>T c.5136G>T (p.Gly1712=) c.2325G>T (p.Gly775=) | |
| 14 | g.91273468C>G | CA487829289 | CCDC88C | c.5244G>C (p.Gly1748=) c.816G>C (p.Gly272=) c.1472G>C c.5136G>C (p.Gly1712=) c.2325G>C (p.Gly775=) | |
| 14 | g.91273468C>T | CA487829287 | CCDC88C | c.5244G>A (p.Gly1748=) c.816G>A (p.Gly272=) c.1472G>A c.5136G>A (p.Gly1712=) c.2325G>A (p.Gly775=) | gnomAD v4 |
| 14 | g.91273469C>A | CA390610507 | CCDC88C | c.5243G>T (p.Gly1748Val) c.815G>T (p.Gly272Val) n.1055G>T c.1471G>T c.5135G>T (p.Gly1712Val) n.5518G>T c.2324G>T (p.Gly775Val) n.5516G>T | gnomAD v4 |
| 14 | g.91273469C>G | CA390610505 | CCDC88C | c.5243G>C (p.Gly1748Ala) c.815G>C (p.Gly272Ala) n.1055G>C c.1471G>C c.5135G>C (p.Gly1712Ala) n.5518G>C c.2324G>C (p.Gly775Ala) n.5516G>C | |
| 14 | g.91273469C>T | CA390610502 | CCDC88C | c.5243G>A (p.Gly1748Glu) c.815G>A (p.Gly272Glu) n.1055G>A c.1471G>A c.5135G>A (p.Gly1712Glu) n.5518G>A c.2324G>A (p.Gly775Glu) n.5516G>A | gnomAD v4 |
| 14 | g.91273470C>A | CA390610516 | CCDC88C | c.5242G>T (p.Gly1748Trp) c.814G>T (p.Gly272Trp) n.1054G>T c.1470G>T c.5134G>T (p.Gly1712Trp) n.5517G>T c.2323G>T (p.Gly775Trp) n.5515G>T | dbSNP gnomAD v4 |
| 14 | g.91273470C= | CA2154902461 | CCDC88C | c.5242G= (p.Gly1748=) c.814G= (p.Gly272=) n.1054G= c.1470G= c.5134G= (p.Gly1712=) n.5517G= c.2323G= (p.Gly775=) n.5515G= | |
| 14 | g.91273470C>G | CA390610510 | CCDC88C | c.5242G>C (p.Gly1748Arg) c.814G>C (p.Gly272Arg) n.1054G>C c.1470G>C c.5134G>C (p.Gly1712Arg) n.5517G>C c.2323G>C (p.Gly775Arg) n.5515G>C | |
| 14 | g.91273470C>T | CA7308690 | CCDC88C | c.5242G>A (p.Gly1748Arg) c.814G>A (p.Gly272Arg) n.1054G>A c.1470G>A c.5134G>A (p.Gly1712Arg) n.5517G>A c.2323G>A (p.Gly775Arg) n.5515G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273471G>A | CA7308692 | CCDC88C | c.5241C>T (p.Pro1747=) c.813C>T (p.Pro271=) n.1053C>T c.1469C>T c.5133C>T (p.Pro1711=) n.5516C>T c.2322C>T (p.Pro774=) n.5514C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273471G>C | CA7308691 | CCDC88C | c.5241C>G (p.Pro1747=) c.813C>G (p.Pro271=) n.1053C>G c.1469C>G c.5133C>G (p.Pro1711=) n.5516C>G c.2322C>G (p.Pro774=) n.5514C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273471G= | CA2154902462 | CCDC88C | c.5241C= (p.Pro1747=) c.813C= (p.Pro271=) n.1053C= c.1469C= c.5133C= (p.Pro1711=) n.5516C= c.2322C= (p.Pro774=) n.5514C= | |
| 14 | g.91273471G>T | CA487829290 | CCDC88C | c.5241C>A (p.Pro1747=) c.813C>A (p.Pro271=) n.1053C>A c.1469C>A c.5133C>A (p.Pro1711=) n.5516C>A c.2322C>A (p.Pro774=) n.5514C>A | |
| 14 | g.91273472G>A | CA390610524 | CCDC88C | c.5240C>T (p.Pro1747Leu) c.812C>T (p.Pro271Leu) n.1052C>T c.1468C>T c.5132C>T (p.Pro1711Leu) n.5515C>T c.2321C>T (p.Pro774Leu) n.5513C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273472G>C | CA390610526 | CCDC88C | c.5240C>G (p.Pro1747Arg) c.812C>G (p.Pro271Arg) n.1052C>G c.1468C>G c.5132C>G (p.Pro1711Arg) n.5515C>G c.2321C>G (p.Pro774Arg) n.5513C>G | |
| 14 | g.91273472G= | CA2154902466 | CCDC88C | c.5240C= (p.Pro1747=) c.812C= (p.Pro271=) n.1052C= c.1468C= c.5132C= (p.Pro1711=) n.5515C= c.2321C= (p.Pro774=) n.5513C= | |
| 14 | g.91273472G>T | CA390610527 | CCDC88C | c.5240C>A (p.Pro1747His) c.812C>A (p.Pro271His) n.1052C>A c.1468C>A c.5132C>A (p.Pro1711His) n.5515C>A c.2321C>A (p.Pro774His) n.5513C>A | gnomAD v4 |
| 14 | g.91273473G>A | CA390610531 | CCDC88C | c.5239C>T (p.Pro1747Ser) c.811C>T (p.Pro271Ser) n.1051C>T c.1467C>T c.5131C>T (p.Pro1711Ser) n.5514C>T c.2320C>T (p.Pro774Ser) n.5512C>T | gnomAD v4 |
| 14 | g.91273473G>C | CA390610533 | CCDC88C | c.5239C>G (p.Pro1747Ala) c.811C>G (p.Pro271Ala) n.1051C>G c.1467C>G c.5131C>G (p.Pro1711Ala) n.5514C>G c.2320C>G (p.Pro774Ala) n.5512C>G | |
| 14 | g.91273473G>T | CA390610535 | CCDC88C | c.5239C>A (p.Pro1747Thr) c.811C>A (p.Pro271Thr) n.1051C>A c.1467C>A c.5131C>A (p.Pro1711Thr) n.5514C>A c.2320C>A (p.Pro774Thr) n.5512C>A | gnomAD v4 |
| 14 | g.91273474C>A | CA390610538 | CCDC88C | c.5238G>T (p.Lys1746Asn) c.810G>T (p.Lys270Asn) n.1050G>T c.1466G>T c.5130G>T (p.Lys1710Asn) n.5513G>T c.2319G>T (p.Lys773Asn) n.5511G>T | gnomAD v4 |
| 14 | g.91273474C>G | CA390610540 | CCDC88C | c.5238G>C (p.Lys1746Asn) c.810G>C (p.Lys270Asn) n.1050G>C c.1466G>C c.5130G>C (p.Lys1710Asn) n.5513G>C c.2319G>C (p.Lys773Asn) n.5511G>C | |
| 14 | g.91273474C>T | CA487829291 | CCDC88C | c.5238G>A (p.Lys1746=) c.810G>A (p.Lys270=) n.1050G>A c.1466G>A c.5130G>A (p.Lys1710=) n.5513G>A c.2319G>A (p.Lys773=) n.5511G>A | gnomAD v4 |
| 14 | g.91273475T>A | CA390610549 | CCDC88C | c.5237A>T (p.Lys1746Met) c.809A>T (p.Lys270Met) n.1049A>T c.1465A>T c.5129A>T (p.Lys1710Met) n.5512A>T c.2318A>T (p.Lys773Met) n.5510A>T | |
| 14 | g.91273475T>C | CA390610546 | CCDC88C | c.5237A>G (p.Lys1746Arg) c.809A>G (p.Lys270Arg) n.1049A>G c.1465A>G c.5129A>G (p.Lys1710Arg) n.5512A>G c.2318A>G (p.Lys773Arg) n.5510A>G | gnomAD v4 |
| 14 | g.91273475T>G | CA390610543 | CCDC88C | c.5237A>C (p.Lys1746Thr) c.809A>C (p.Lys270Thr) n.1049A>C c.1465A>C c.5129A>C (p.Lys1710Thr) n.5512A>C c.2318A>C (p.Lys773Thr) n.5510A>C | |
| 14 | g.91273476T>A | CA390610557 | CCDC88C | c.5236A>T (p.Lys1746Ter) c.808A>T (p.Lys270Ter) n.1048A>T c.1464A>T c.5128A>T (p.Lys1710Ter) n.5511A>T c.2317A>T (p.Lys773Ter) n.5509A>T | gnomAD v4 |
| 14 | g.91273476T>C | CA390610600 | CCDC88C | c.5236A>G (p.Lys1746Glu) c.808A>G (p.Lys270Glu) n.1048A>G c.1464A>G c.5128A>G (p.Lys1710Glu) n.5511A>G c.2317A>G (p.Lys773Glu) n.5509A>G | gnomAD v4 |
| 14 | g.91273476T>G | CA390610601 | CCDC88C | c.5236A>C (p.Lys1746Gln) c.808A>C (p.Lys270Gln) n.1048A>C c.1464A>C c.5128A>C (p.Lys1710Gln) n.5511A>C c.2317A>C (p.Lys773Gln) n.5509A>C | |
| 14 | g.91273477C>A | CA487829292 | CCDC88C | c.5235G>T (p.Leu1745=) c.807G>T (p.Leu269=) n.1047G>T c.1463G>T c.5127G>T (p.Leu1709=) n.5510G>T c.2316G>T (p.Leu772=) n.5508G>T | gnomAD v4 |
| 14 | g.91273477C= | CA2154902473 | CCDC88C | c.5235G= (p.Leu1745=) c.807G= (p.Leu269=) n.1047G= c.1463G= c.5127G= (p.Leu1709=) n.5510G= c.2316G= (p.Leu772=) n.5508G= | |
| 14 | g.91273477C>G | CA487829293 | CCDC88C | c.5235G>C (p.Leu1745=) c.807G>C (p.Leu269=) n.1047G>C c.1463G>C c.5127G>C (p.Leu1709=) n.5510G>C c.2316G>C (p.Leu772=) n.5508G>C | gnomAD v4 |
| 14 | g.91273477C>T | CA487829294 | CCDC88C | c.5235G>A (p.Leu1745=) c.807G>A (p.Leu269=) n.1047G>A c.1463G>A c.5127G>A (p.Leu1709=) n.5510G>A c.2316G>A (p.Leu772=) n.5508G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273477_91273478dup | CA2697554089 | CCDC88C | c.5234_5235dup (p.Lys1746Ter) c.806_807dup (p.Lys270Ter) n.1046_1047dup c.1462_1463dup c.5126_5127dup (p.Lys1710Ter) n.5509_5510dup c.2315_2316dup (p.Lys773Ter) n.5507_5508dup | ClinVar |
| 14 | g.91273478A= | CA2154902479 | CCDC88C | c.5234T= (p.Leu1745=) c.806T= (p.Leu269=) n.1046T= c.1462T= c.5126T= (p.Leu1709=) n.5509T= c.2315T= (p.Leu772=) n.5507T= | |
| 14 | g.91273478A>C | CA390610602 | CCDC88C | c.5234T>G (p.Leu1745Arg) c.806T>G (p.Leu269Arg) n.1046T>G c.1462T>G c.5126T>G (p.Leu1709Arg) n.5509T>G c.2315T>G (p.Leu772Arg) n.5507T>G | gnomAD v4 |
| 14 | g.91273478A>G | CA390610603 | CCDC88C | c.5234T>C (p.Leu1745Pro) c.806T>C (p.Leu269Pro) n.1046T>C c.1462T>C c.5126T>C (p.Leu1709Pro) n.5509T>C c.2315T>C (p.Leu772Pro) n.5507T>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273478A>T | CA390610604 | CCDC88C | c.5234T>A (p.Leu1745Gln) c.806T>A (p.Leu269Gln) n.1046T>A c.1462T>A c.5126T>A (p.Leu1709Gln) n.5509T>A c.2315T>A (p.Leu772Gln) n.5507T>A | |
| 14 | g.91273478_91273500dup | CA7308693 | CCDC88C | c.5212_5234dup (p.Lys1746ProfsTer8) c.784_806dup (p.Lys270ProfsTer8) n.1024_1046dup c.1440_1462dup c.5104_5126dup (p.Lys1710ProfsTer8) n.5487_5509dup c.2293_2315dup (p.Lys773ProfsTer8) n.5485_5507dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273479G>A | CA487829295 | CCDC88C | c.5233C>T (p.Leu1745=) c.805C>T (p.Leu269=) n.1045C>T c.1461C>T c.5125C>T (p.Leu1709=) n.5508C>T c.2314C>T (p.Leu772=) n.5506C>T | gnomAD v4 |
| 14 | g.91273479G>C | CA390610605 | CCDC88C | c.5233C>G (p.Leu1745Val) c.805C>G (p.Leu269Val) n.1045C>G c.1461C>G c.5125C>G (p.Leu1709Val) n.5508C>G c.2314C>G (p.Leu772Val) n.5506C>G | |
| 14 | g.91273479G>T | CA390610606 | CCDC88C | c.5233C>A (p.Leu1745Met) c.805C>A (p.Leu269Met) n.1045C>A c.1461C>A c.5125C>A (p.Leu1709Met) n.5508C>A c.2314C>A (p.Leu772Met) n.5506C>A | |
| 14 | g.91273480C>A | CA487829296 | CCDC88C | c.5232G>T (p.Pro1744=) c.804G>T (p.Pro268=) n.1044G>T c.1460G>T c.5124G>T (p.Pro1708=) n.5507G>T c.2313G>T (p.Pro771=) n.5505G>T | gnomAD v4 |
| 14 | g.91273480C= | CA2154902484 | CCDC88C | c.5232G= (p.Pro1744=) c.804G= (p.Pro268=) n.1044G= c.1460G= c.5124G= (p.Pro1708=) n.5507G= c.2313G= (p.Pro771=) n.5505G= | |
| 14 | g.91273480C>G | CA487829297 | CCDC88C | c.5232G>C (p.Pro1744=) c.804G>C (p.Pro268=) n.1044G>C c.1460G>C c.5124G>C (p.Pro1708=) n.5507G>C c.2313G>C (p.Pro771=) n.5505G>C | gnomAD v4 |
| 14 | g.91273480C>T | CA7308694 | CCDC88C | c.5232G>A (p.Pro1744=) c.804G>A (p.Pro268=) n.1044G>A c.1460G>A c.5124G>A (p.Pro1708=) n.5507G>A c.2313G>A (p.Pro771=) n.5505G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273481G>A | CA7308696 | CCDC88C | c.5231C>T (p.Pro1744Leu) c.803C>T (p.Pro268Leu) n.1043C>T c.1459C>T c.5123C>T (p.Pro1708Leu) n.5506C>T c.2312C>T (p.Pro771Leu) n.5504C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273481G>C | CA7308695 | CCDC88C | c.5231C>G (p.Pro1744Arg) c.803C>G (p.Pro268Arg) n.1043C>G c.1459C>G c.5123C>G (p.Pro1708Arg) n.5506C>G c.2312C>G (p.Pro771Arg) n.5504C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273481G= | CA2154902490 | CCDC88C | c.5231C= (p.Pro1744=) c.803C= (p.Pro268=) n.1043C= c.1459C= c.5123C= (p.Pro1708=) n.5506C= c.2312C= (p.Pro771=) n.5504C= | |
| 14 | g.91273481G>T | CA390610607 | CCDC88C | c.5231C>A (p.Pro1744Gln) c.803C>A (p.Pro268Gln) n.1043C>A c.1459C>A c.5123C>A (p.Pro1708Gln) n.5506C>A c.2312C>A (p.Pro771Gln) n.5504C>A | |
| 14 | g.91273482G>A | CA390610609 | CCDC88C | c.5230C>T (p.Pro1744Ser) c.802C>T (p.Pro268Ser) n.1042C>T c.1458C>T c.5122C>T (p.Pro1708Ser) n.5505C>T c.2311C>T (p.Pro771Ser) n.5503C>T | gnomAD v4 |
| 14 | g.91273482G>C | CA390610610 | CCDC88C | c.5230C>G (p.Pro1744Ala) c.802C>G (p.Pro268Ala) n.1042C>G c.1458C>G c.5122C>G (p.Pro1708Ala) n.5505C>G c.2311C>G (p.Pro771Ala) n.5503C>G | |
| 14 | g.91273482G>T | CA390610608 | CCDC88C | c.5230C>A (p.Pro1744Thr) c.802C>A (p.Pro268Thr) n.1042C>A c.1458C>A c.5122C>A (p.Pro1708Thr) n.5505C>A c.2311C>A (p.Pro771Thr) n.5503C>A | |
| 14 | g.91273482_91273483insTGATGGTGGCCA | CA2626123433 | CCDC88C | c.5229_5230insTGGCCACCATCA (p.Arg1743_Pro1744insTrpProProSer) c.801_802insTGGCCACCATCA (p.Arg267_Pro268insTrpProProSer) n.1041_1042insTGGCCACCATCA c.1457_1458insTGGCCACCATCA c.5121_5122insTGGCCACCATCA (p.Arg1707_Pro1708insTrpProProSer) n.5504_5505insTGGCCACCATCA c.2310_2311insTGGCCACCATCA (p.Arg770_Pro771insTrpProProSer) n.5502_5503insTGGCCACCATCA | gnomAD v4 |
| 14 | g.91273483C>A | CA390610611 | CCDC88C | c.5229G>T (p.Arg1743Ser) c.801G>T (p.Arg267Ser) n.1041G>T c.1457G>T c.5121G>T (p.Arg1707Ser) n.5504G>T c.2310G>T (p.Arg770Ser) n.5502G>T | |
| 14 | g.91273483C>G | CA390610612 | CCDC88C | c.5229G>C (p.Arg1743Ser) c.801G>C (p.Arg267Ser) n.1041G>C c.1457G>C c.5121G>C (p.Arg1707Ser) n.5504G>C c.2310G>C (p.Arg770Ser) n.5502G>C | |
| 14 | g.91273483C>T | CA487829298 | CCDC88C | c.5229G>A (p.Arg1743=) c.801G>A (p.Arg267=) n.1041G>A c.1457G>A c.5121G>A (p.Arg1707=) n.5504G>A c.2310G>A (p.Arg770=) n.5502G>A | gnomAD v4 |
| 14 | g.91273484C>A | CA390610613 | CCDC88C | c.5228G>T (p.Arg1743Met) c.800G>T (p.Arg267Met) n.1040G>T c.1456G>T c.5120G>T (p.Arg1707Met) n.5503G>T c.2309G>T (p.Arg770Met) n.5501G>T | gnomAD v4 |
| 14 | g.91273484C>G | CA390610614 | CCDC88C | c.5228G>C (p.Arg1743Thr) c.800G>C (p.Arg267Thr) n.1040G>C c.1456G>C c.5120G>C (p.Arg1707Thr) n.5503G>C c.2309G>C (p.Arg770Thr) n.5501G>C | |
| 14 | g.91273484C>T | CA390610615 | CCDC88C | c.5228G>A (p.Arg1743Lys) c.800G>A (p.Arg267Lys) n.1040G>A c.1456G>A c.5120G>A (p.Arg1707Lys) n.5503G>A c.2309G>A (p.Arg770Lys) n.5501G>A | dbSNP gnomAD v4 |
| 14 | g.91273485T>A | CA390610616 | CCDC88C | c.5227A>T (p.Arg1743Trp) c.799A>T (p.Arg267Trp) n.1039A>T c.1455A>T c.5119A>T (p.Arg1707Trp) n.5502A>T c.2308A>T (p.Arg770Trp) n.5500A>T | gnomAD v4 |
| 14 | g.91273485T>C | CA390610617 | CCDC88C | c.5227A>G (p.Arg1743Gly) c.799A>G (p.Arg267Gly) n.1039A>G c.1455A>G c.5119A>G (p.Arg1707Gly) n.5502A>G c.2308A>G (p.Arg770Gly) n.5500A>G | gnomAD v4 |
| 14 | g.91273485T>G | CA487829299 | CCDC88C | c.5227A>C (p.Arg1743=) c.799A>C (p.Arg267=) n.1039A>C c.1455A>C c.5119A>C (p.Arg1707=) n.5502A>C c.2308A>C (p.Arg770=) n.5500A>C | |
| 14 | g.91273485_91273486delinsTC | CA2154902501 | CCDC88C | c.5226_5227delinsGA (p.Gly1742=) c.798_799delinsGA (p.Gly266=) n.1038_1039delinsGA c.1454_1455delinsGA c.5118_5119delinsGA (p.Gly1706=) n.5501_5502delinsGA c.2307_2308delinsGA (p.Gly769=) n.5499_5500delinsGA | |
| 14 | g.91273486C>A | CA487829300 | CCDC88C | c.5226G>T (p.Gly1742=) c.798G>T (p.Gly266=) n.1038G>T c.1454G>T c.5118G>T (p.Gly1706=) n.5501G>T c.2307G>T (p.Gly769=) n.5499G>T | gnomAD v4 |
| 14 | g.91273486C>G | CA487829301 | CCDC88C | c.5226G>C (p.Gly1742=) c.798G>C (p.Gly266=) n.1038G>C c.1454G>C c.5118G>C (p.Gly1706=) n.5501G>C c.2307G>C (p.Gly769=) n.5499G>C | |
| 14 | g.91273486C>T | CA487829302 | CCDC88C | c.5226G>A (p.Gly1742=) c.798G>A (p.Gly266=) n.1038G>A c.1454G>A c.5118G>A (p.Gly1706=) n.5501G>A c.2307G>A (p.Gly769=) n.5499G>A | |
| 14 | g.91273489del | CA616112330 | CCDC88C | c.5226del (p.Arg1743GlyfsTer3) c.798del (p.Arg267GlyfsTer3) n.1038del c.1454del c.5118del (p.Arg1707GlyfsTer3) n.5501del c.2307del (p.Arg770GlyfsTer3) n.5499del | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273487C>A | CA390610618 | CCDC88C | c.5225G>T (p.Gly1742Val) c.797G>T (p.Gly266Val) n.1037G>T c.1453G>T c.5117G>T (p.Gly1706Val) n.5500G>T c.2306G>T (p.Gly769Val) n.5498G>T | gnomAD v4 |
| 14 | g.91273487C= | CA2154902508 | CCDC88C | c.5225G= (p.Gly1742=) c.797G= (p.Gly266=) n.1037G= c.1453G= c.5117G= (p.Gly1706=) n.5500G= c.2306G= (p.Gly769=) n.5498G= | |
| 14 | g.91273487C>G | CA390610619 | CCDC88C | c.5225G>C (p.Gly1742Ala) c.797G>C (p.Gly266Ala) n.1037G>C c.1453G>C c.5117G>C (p.Gly1706Ala) n.5500G>C c.2306G>C (p.Gly769Ala) n.5498G>C | |
| 14 | g.91273487C>T | CA7308697 | CCDC88C | c.5225G>A (p.Gly1742Glu) c.797G>A (p.Gly266Glu) n.1037G>A c.1453G>A c.5117G>A (p.Gly1706Glu) n.5500G>A c.2306G>A (p.Gly769Glu) n.5498G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273488C>A | CA390610620 | CCDC88C | c.5224G>T (p.Gly1742Trp) c.796G>T (p.Gly266Trp) n.1036G>T c.1452G>T c.5116G>T (p.Gly1706Trp) n.5499G>T c.2305G>T (p.Gly769Trp) n.5497G>T | gnomAD v4 |
| 14 | g.91273488C>G | CA390610621 | CCDC88C | c.5224G>C (p.Gly1742Arg) c.796G>C (p.Gly266Arg) n.1036G>C c.1452G>C c.5116G>C (p.Gly1706Arg) n.5499G>C c.2305G>C (p.Gly769Arg) n.5497G>C | |
| 14 | g.91273488C>T | CA390610622 | CCDC88C | c.5224G>A (p.Gly1742Arg) c.796G>A (p.Gly266Arg) n.1036G>A c.1452G>A c.5116G>A (p.Gly1706Arg) n.5499G>A c.2305G>A (p.Gly769Arg) n.5497G>A | |
| 14 | g.91273489C>A | CA390610624 | CCDC88C | c.5223G>T (p.Glu1741Asp) c.795G>T (p.Glu265Asp) n.1035G>T c.1451G>T c.5115G>T (p.Glu1705Asp) n.5498G>T c.2304G>T (p.Glu768Asp) n.5496G>T | gnomAD v4 |
| 14 | g.91273489C= | CA2154902515 | CCDC88C | c.5223G= (p.Glu1741=) c.795G= (p.Glu265=) n.1035G= c.1451G= c.5115G= (p.Glu1705=) n.5498G= c.2304G= (p.Glu768=) n.5496G= | |
| 14 | g.91273489C>G | CA390610623 | CCDC88C | c.5223G>C (p.Glu1741Asp) c.795G>C (p.Glu265Asp) n.1035G>C c.1451G>C c.5115G>C (p.Glu1705Asp) n.5498G>C c.2304G>C (p.Glu768Asp) n.5496G>C | gnomAD v4 |
| 14 | g.91273489C>T | CA7308698 | CCDC88C | c.5223G>A (p.Glu1741=) c.795G>A (p.Glu265=) n.1035G>A c.1451G>A c.5115G>A (p.Glu1705=) n.5498G>A c.2304G>A (p.Glu768=) n.5496G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273490del | CA2626123434 | CCDC88C | c.5222del (p.Glu1741GlyfsTer5) c.794del (p.Glu265GlyfsTer5) n.1034del c.1450del c.5114del (p.Glu1705GlyfsTer5) n.5497del c.2303del (p.Glu768GlyfsTer5) n.5495del | gnomAD v4 |
| 14 | g.91273490T>A | CA390610625 | CCDC88C | c.5222A>T (p.Glu1741Val) c.794A>T (p.Glu265Val) n.1034A>T c.1450A>T c.5114A>T (p.Glu1705Val) n.5497A>T c.2303A>T (p.Glu768Val) n.5495A>T | |
| 14 | g.91273490T>C | CA7308699 | CCDC88C | c.5222A>G (p.Glu1741Gly) c.794A>G (p.Glu265Gly) n.1034A>G c.1450A>G c.5114A>G (p.Glu1705Gly) n.5497A>G c.2303A>G (p.Glu768Gly) n.5495A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273490T>G | CA390610626 | CCDC88C | c.5222A>C (p.Glu1741Ala) c.794A>C (p.Glu265Ala) n.1034A>C c.1450A>C c.5114A>C (p.Glu1705Ala) n.5497A>C c.2303A>C (p.Glu768Ala) n.5495A>C | |
| 14 | g.91273490T= | CA2154902519 | CCDC88C | c.5222A= (p.Glu1741=) c.794A= (p.Glu265=) n.1034A= c.1450A= c.5114A= (p.Glu1705=) n.5497A= c.2303A= (p.Glu768=) n.5495A= | |
| 14 | g.91273491C>A | CA390610627 | CCDC88C | c.5221G>T (p.Glu1741Ter) c.793G>T (p.Glu265Ter) n.1033G>T c.1449G>T c.5113G>T (p.Glu1705Ter) n.5496G>T c.2302G>T (p.Glu768Ter) n.5494G>T | gnomAD v4 |
| 14 | g.91273491C>G | CA390610628 | CCDC88C | c.5221G>C (p.Glu1741Gln) c.793G>C (p.Glu265Gln) n.1033G>C c.1449G>C c.5113G>C (p.Glu1705Gln) n.5496G>C c.2302G>C (p.Glu768Gln) n.5494G>C | |
| 14 | g.91273491C>T | CA390610629 | CCDC88C | c.5221G>A (p.Glu1741Lys) c.793G>A (p.Glu265Lys) n.1033G>A c.1449G>A c.5113G>A (p.Glu1705Lys) n.5496G>A c.2302G>A (p.Glu768Lys) n.5494G>A | gnomAD v4 |
| 14 | g.91273491_91273492del | CA2626123435 | CCDC88C | c.5220_5221del (p.Glu1741GlyfsTer18) c.792_793del (p.Glu265GlyfsTer18) n.1032_1033del c.1448_1449del c.5112_5113del (p.Glu1705GlyfsTer18) n.5495_5496del c.2301_2302del (p.Glu768GlyfsTer18) n.5493_5494del | gnomAD v4 |
| 14 | g.91273492C>A | CA487829303 | CCDC88C | c.5220G>T (p.Ser1740=) c.792G>T (p.Ser264=) n.1032G>T c.1448G>T c.5112G>T (p.Ser1704=) n.5495G>T c.2301G>T (p.Ser767=) n.5493G>T | gnomAD v4 |
| 14 | g.91273492C= | CA2154902525 | CCDC88C | c.5220G= (p.Ser1740=) c.792G= (p.Ser264=) n.1032G= c.1448G= c.5112G= (p.Ser1704=) n.5495G= c.2301G= (p.Ser767=) n.5493G= | |
| 14 | g.91273492C>G | CA7308701 | CCDC88C | c.5220G>C (p.Ser1740=) c.792G>C (p.Ser264=) n.1032G>C c.1448G>C c.5112G>C (p.Ser1704=) n.5495G>C c.2301G>C (p.Ser767=) n.5493G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273492C>T | CA7308700 | CCDC88C | c.5220G>A (p.Ser1740=) c.792G>A (p.Ser264=) n.1032G>A c.1448G>A c.5112G>A (p.Ser1704=) n.5495G>A c.2301G>A (p.Ser767=) n.5493G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273493G>A | CA7308702 | CCDC88C | c.5219C>T (p.Ser1740Leu) c.791C>T (p.Ser264Leu) n.1031C>T c.1447C>T c.5111C>T (p.Ser1704Leu) n.5494C>T c.2300C>T (p.Ser767Leu) n.5492C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273493G>C | CA7308703 | CCDC88C | c.5219C>G (p.Ser1740Trp) c.791C>G (p.Ser264Trp) n.1031C>G c.1447C>G c.5111C>G (p.Ser1704Trp) n.5494C>G c.2300C>G (p.Ser767Trp) n.5492C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273493G= | CA2154902535 | CCDC88C | c.5219C= (p.Ser1740=) c.791C= (p.Ser264=) n.1031C= c.1447C= c.5111C= (p.Ser1704=) n.5494C= c.2300C= (p.Ser767=) n.5492C= | |
| 14 | g.91273493G>T | CA390610630 | CCDC88C | c.5219C>A (p.Ser1740Ter) c.791C>A (p.Ser264Ter) n.1031C>A c.1447C>A c.5111C>A (p.Ser1704Ter) n.5494C>A c.2300C>A (p.Ser767Ter) n.5492C>A | |
| 14 | g.91273494A>C | CA390610632 | CCDC88C | c.5218T>G (p.Ser1740Ala) c.790T>G (p.Ser264Ala) n.1030T>G c.1446T>G c.5110T>G (p.Ser1704Ala) n.5493T>G c.2299T>G (p.Ser767Ala) n.5491T>G | |
| 14 | g.91273494A>G | CA390610633 | CCDC88C | c.5218T>C (p.Ser1740Pro) c.790T>C (p.Ser264Pro) n.1030T>C c.1446T>C c.5110T>C (p.Ser1704Pro) n.5493T>C c.2299T>C (p.Ser767Pro) n.5491T>C | gnomAD v4 |
| 14 | g.91273494A>T | CA390610631 | CCDC88C | c.5218T>A (p.Ser1740Thr) c.790T>A (p.Ser264Thr) n.1030T>A c.1446T>A c.5110T>A (p.Ser1704Thr) n.5493T>A c.2299T>A (p.Ser767Thr) n.5491T>A | |
| 14 | g.91273495G>A | CA7308704 | CCDC88C | c.5217C>T (p.Thr1739=) c.789C>T (p.Thr263=) n.1029C>T c.1445C>T c.5109C>T (p.Thr1703=) n.5492C>T c.2298C>T (p.Thr766=) n.5490C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273495G>C | CA487829304 | CCDC88C | c.5217C>G (p.Thr1739=) c.789C>G (p.Thr263=) n.1029C>G c.1445C>G c.5109C>G (p.Thr1703=) n.5492C>G c.2298C>G (p.Thr766=) n.5490C>G | |
| 14 | g.91273495G= | CA2154902542 | CCDC88C | c.5217C= (p.Thr1739=) c.789C= (p.Thr263=) n.1029C= c.1445C= c.5109C= (p.Thr1703=) n.5492C= c.2298C= (p.Thr766=) n.5490C= | |
| 14 | g.91273495G>T | CA7308705 | CCDC88C | c.5217C>A (p.Thr1739=) c.789C>A (p.Thr263=) n.1029C>A c.1445C>A c.5109C>A (p.Thr1703=) n.5492C>A c.2298C>A (p.Thr766=) n.5490C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273495_91273496insC | CA2626123436 | CCDC88C | c.5216_5217insG (p.Ser1740LeufsTer20) c.788_789insG (p.Ser264LeufsTer20) n.1028_1029insG c.1444_1445insG c.5108_5109insG (p.Ser1704LeufsTer20) n.5491_5492insG c.2297_2298insG (p.Ser767LeufsTer20) n.5489_5490insG | gnomAD v4 |
| 14 | g.91273496G>A | CA390610634 | CCDC88C | c.5216C>T (p.Thr1739Ile) c.788C>T (p.Thr263Ile) n.1028C>T c.1444C>T c.5108C>T (p.Thr1703Ile) n.5491C>T c.2297C>T (p.Thr766Ile) n.5489C>T | gnomAD v4 |
| 14 | g.91273496G>C | CA390610635 | CCDC88C | c.5216C>G (p.Thr1739Ser) c.788C>G (p.Thr263Ser) n.1028C>G c.1444C>G c.5108C>G (p.Thr1703Ser) n.5491C>G c.2297C>G (p.Thr766Ser) n.5489C>G | gnomAD v4 |
| 14 | g.91273496G>T | CA390610636 | CCDC88C | c.5216C>A (p.Thr1739Asn) c.788C>A (p.Thr263Asn) n.1028C>A c.1444C>A c.5108C>A (p.Thr1703Asn) n.5491C>A c.2297C>A (p.Thr766Asn) n.5489C>A | |
| 14 | g.91273497T>A | CA390610637 | CCDC88C | c.5215A>T (p.Thr1739Ser) c.787A>T (p.Thr263Ser) n.1027A>T c.1443A>T c.5107A>T (p.Thr1703Ser) n.5490A>T c.2296A>T (p.Thr766Ser) n.5488A>T | |
| 14 | g.91273497T>C | CA390610638 | CCDC88C | c.5215A>G (p.Thr1739Ala) c.787A>G (p.Thr263Ala) n.1027A>G c.1443A>G c.5107A>G (p.Thr1703Ala) n.5490A>G c.2296A>G (p.Thr766Ala) n.5488A>G | gnomAD v4 |
| 14 | g.91273497T>G | CA390610639 | CCDC88C | c.5215A>C (p.Thr1739Pro) c.787A>C (p.Thr263Pro) n.1027A>C c.1443A>C c.5107A>C (p.Thr1703Pro) n.5490A>C c.2296A>C (p.Thr766Pro) n.5488A>C | dbSNP |
| 14 | g.91273497T= | CA2154902550 | CCDC88C | c.5215A= (p.Thr1739=) c.787A= (p.Thr263=) n.1027A= c.1443A= c.5107A= (p.Thr1703=) n.5490A= c.2296A= (p.Thr766=) n.5488A= |