Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178014288G>CCA1982136PDE11Ac.1071+14C>G (n.1071+14C>G)
c.321+14C>G (n.321+14C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014288G=CA1310286793PDE11Ac.1071+14C= (n.1071+14C=)
c.321+14C= (n.321+14C=)
2g.178014288G>TCA1982137PDE11Ac.1071+14C>A (n.1071+14C>A)
c.321+14C>A (n.321+14C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014289C=CA1310286794PDE11Ac.1071+13G= (n.1071+13G=)
c.321+13G= (n.321+13G=)
2g.178014289C>TCA61449345PDE11Ac.1071+13G>A (n.1071+13G>A)
c.321+13G>A (n.321+13G>A)
 dbSNP
2g.178014291T>ACA2753323463PDE11Ac.1071+11A>T (n.1071+11A>T)
c.321+11A>T (n.321+11A>T)
2g.178014291T>CCA61449346PDE11Ac.1071+11A>G (n.1071+11A>G)
c.321+11A>G (n.321+11A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178014291T=CA1310286795PDE11Ac.1071+11A= (n.1071+11A=)
c.321+11A= (n.321+11A=)
2g.178014292G>ACA761235737PDE11Ac.1071+10C>T (n.1071+10C>T)
c.321+10C>T (n.321+10C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.178014292G=CA1310286796PDE11Ac.1071+10C= (n.1071+10C=)
c.321+10C= (n.321+10C=)
2g.178014292G>TCA2662096197PDE11Ac.1071+10C>A (n.1071+10C>A)
c.321+10C>A (n.321+10C>A)
 gnomAD v4
2g.178014293A>GCA2577168375PDE11Ac.1071+9T>C (n.1071+9T>C)
c.321+9T>C (n.321+9T>C)
2g.178014298T>ACA2662096198PDE11Ac.1071+4A>T (n.1071+4A>T)
c.321+4A>T (n.321+4A>T)
 gnomAD v4
2g.178014300A>CCA349703679PDE11Ac.1071+2T>G (n.1071+2T>G)
c.321+2T>G (n.321+2T>G)
2g.178014300A>GCA349703680PDE11Ac.1071+2T>C (n.1071+2T>C)
c.321+2T>C (n.321+2T>C)
2g.178014300A>TCA349703681PDE11Ac.1071+2T>A (n.1071+2T>A)
c.321+2T>A (n.321+2T>A)
2g.178014301C>ACA349703682PDE11Ac.1071+1G>T (n.1071+1G>T)
c.321+1G>T (n.321+1G>T)
2g.178014301C=CA1310286797PDE11Ac.1071+1G= (n.1071+1G=)
c.321+1G= (n.321+1G=)
2g.178014301C>GCA349703683PDE11Ac.1071+1G>C (n.1071+1G>C)
c.321+1G>C (n.321+1G>C)
2g.178014301C>TCA349703684PDE11Ac.1071+1G>A (n.1071+1G>A)
c.321+1G>A (n.321+1G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.178014302T>ACA349703685PDE11Ac.1071A>T (p.Lys357Asn)
c.321A>T (p.Lys107Asn)
2g.178014302T>CCA430205405PDE11Ac.1071A>G (p.Lys357=)
c.321A>G (p.Lys107=)
2g.178014302T>GCA349703686PDE11Ac.1071A>C (p.Lys357Asn)
c.321A>C (p.Lys107Asn)
 COSMIC COSMIC
2g.178014303T>ACA349703687PDE11Ac.1070A>T (p.Lys357Ile)
c.320A>T (p.Lys107Ile)
2g.178014303T>CCA349703688PDE11Ac.1070A>G (p.Lys357Arg)
c.320A>G (p.Lys107Arg)
2g.178014303T>GCA349703689PDE11Ac.1070A>C (p.Lys357Thr)
c.320A>C (p.Lys107Thr)
2g.178014304T>ACA349703690PDE11Ac.1069A>T (p.Lys357Ter)
c.319A>T (p.Lys107Ter)
2g.178014304T>CCA349703691PDE11Ac.1069A>G (p.Lys357Glu)
c.319A>G (p.Lys107Glu)
2g.178014304T>GCA349703692PDE11Ac.1069A>C (p.Lys357Gln)
c.319A>C (p.Lys107Gln)
 dbSNP gnomAD v4
2g.178014304T=CA1310286798PDE11Ac.1069A= (p.Lys357=)
c.319A= (p.Lys107=)
2g.178014305T>ACA349703693PDE11Ac.1068A>T (p.Glu356Asp)
c.318A>T (p.Glu106Asp)
2g.178014305T>CCA430205406PDE11Ac.1068A>G (p.Glu356=)
c.318A>G (p.Glu106=)
2g.178014305T>GCA349703694PDE11Ac.1068A>C (p.Glu356Asp)
c.318A>C (p.Glu106Asp)
2g.178014306T>ACA1982138PDE11Ac.1067A>T (p.Glu356Val)
c.317A>T (p.Glu106Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014306T>CCA349703695PDE11Ac.1067A>G (p.Glu356Gly)
c.317A>G (p.Glu106Gly)
 dbSNP
2g.178014306T>GCA349703696PDE11Ac.1067A>C (p.Glu356Ala)
c.317A>C (p.Glu106Ala)
2g.178014306T=CA1310286799PDE11Ac.1067A= (p.Glu356=)
c.317A= (p.Glu106=)
2g.178014307C>ACA349703697PDE11Ac.1066G>T (p.Glu356Ter)
c.316G>T (p.Glu106Ter)
 COSMIC COSMIC
2g.178014307C=CA1310286800PDE11Ac.1066G= (p.Glu356=)
c.316G= (p.Glu106=)
2g.178014307C>GCA349703698PDE11Ac.1066G>C (p.Glu356Gln)
c.316G>C (p.Glu106Gln)
2g.178014307C>TCA349703699PDE11Ac.1066G>A (p.Glu356Lys)
c.316G>A (p.Glu106Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.178014307dupCA2577168376PDE11Ac.1066dup (p.Glu356GlyfsTer17)
c.316dup (p.Glu106GlyfsTer17)
 gnomAD v4
2g.178014308A>CCA349703700PDE11Ac.1065T>G (p.Asp355Glu)
c.315T>G (p.Asp105Glu)
2g.178014308A>GCA430205407PDE11Ac.1065T>C (p.Asp355=)
c.315T>C (p.Asp105=)
 gnomAD v4
2g.178014308A>TCA349703701PDE11Ac.1065T>A (p.Asp355Glu)
c.315T>A (p.Asp105Glu)
2g.178014309T>ACA349703702PDE11Ac.1064A>T (p.Asp355Val)
c.314A>T (p.Asp105Val)
2g.178014309T>CCA349703703PDE11Ac.1064A>G (p.Asp355Gly)
c.314A>G (p.Asp105Gly)
2g.178014309T>GCA349703704PDE11Ac.1064A>C (p.Asp355Ala)
c.314A>C (p.Asp105Ala)
2g.178014310C>ACA349703705PDE11Ac.1063G>T (p.Asp355Tyr)
c.313G>T (p.Asp105Tyr)
2g.178014310C>GCA349703706PDE11Ac.1063G>C (p.Asp355His)
c.313G>C (p.Asp105His)
2g.178014310C>TCA349703707PDE11Ac.1063G>A (p.Asp355Asn)
c.313G>A (p.Asp105Asn)
2g.178014311A=CA1310286801PDE11Ac.1062T= (p.Asp354=)
c.312T= (p.Asp104=)
2g.178014311A>CCA349703708PDE11Ac.1062T>G (p.Asp354Glu)
c.312T>G (p.Asp104Glu)
2g.178014311A>GCA430205408PDE11Ac.1062T>C (p.Asp354=)
c.312T>C (p.Asp104=)
2g.178014311A>TCA1982139PDE11Ac.1062T>A (p.Asp354Glu)
c.312T>A (p.Asp104Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014312T>ACA349703709PDE11Ac.1061A>T (p.Asp354Val)
c.311A>T (p.Asp104Val)
2g.178014312T>CCA349703710PDE11Ac.1061A>G (p.Asp354Gly)
c.311A>G (p.Asp104Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178014312T>GCA349703711PDE11Ac.1061A>C (p.Asp354Ala)
c.311A>C (p.Asp104Ala)
2g.178014312T=CA1310286802PDE11Ac.1061A= (p.Asp354=)
c.311A= (p.Asp104=)
2g.178014313C>ACA349703714PDE11Ac.1060G>T (p.Asp354Tyr)
c.310G>T (p.Asp104Tyr)
2g.178014313C>GCA349703713PDE11Ac.1060G>C (p.Asp354His)
c.310G>C (p.Asp104His)
2g.178014313C>TCA349703712PDE11Ac.1060G>A (p.Asp354Asn)
c.310G>A (p.Asp104Asn)
2g.178014314T>ACA349703715PDE11Ac.1059A>T (p.Glu353Asp)
c.309A>T (p.Glu103Asp)
2g.178014314T>CCA430205409PDE11Ac.1059A>G (p.Glu353=)
c.309A>G (p.Glu103=)
 dbSNP
2g.178014314T>GCA349703716PDE11Ac.1059A>C (p.Glu353Asp)
c.309A>C (p.Glu103Asp)
2g.178014314T=CA1310286803PDE11Ac.1059A= (p.Glu353=)
c.309A= (p.Glu103=)
2g.178014315T>ACA349703717PDE11Ac.1058A>T (p.Glu353Val)
c.308A>T (p.Glu103Val)
2g.178014315T>CCA349703719PDE11Ac.1058A>G (p.Glu353Gly)
c.308A>G (p.Glu103Gly)
2g.178014315T>GCA349703718PDE11Ac.1058A>C (p.Glu353Ala)
c.308A>C (p.Glu103Ala)
2g.178014316C>ACA349703720PDE11Ac.1057G>T (p.Glu353Ter)
c.307G>T (p.Glu103Ter)
2g.178014316C>GCA349703722PDE11Ac.1057G>C (p.Glu353Gln)
c.307G>C (p.Glu103Gln)
2g.178014316C>TCA349703721PDE11Ac.1057G>A (p.Glu353Lys)
c.307G>A (p.Glu103Lys)
2g.178014317A=CA1310286804PDE11Ac.1056T= (p.Thr352=)
c.306T= (p.Thr102=)
2g.178014317A>CCA430205410PDE11Ac.1056T>G (p.Thr352=)
c.306T>G (p.Thr102=)
2g.178014317A>GCA430205411PDE11Ac.1056T>C (p.Thr352=)
c.306T>C (p.Thr102=)
 dbSNP gnomAD v2 gnomAD v4
2g.178014317A>TCA430205412PDE11Ac.1056T>A (p.Thr352=)
c.306T>A (p.Thr102=)
2g.178014318G>ACA349703723PDE11Ac.1055C>T (p.Thr352Ile)
c.305C>T (p.Thr102Ile)
2g.178014318G>CCA349703725PDE11Ac.1055C>G (p.Thr352Ser)
c.305C>G (p.Thr102Ser)
2g.178014318G>TCA349703724PDE11Ac.1055C>A (p.Thr352Asn)
c.305C>A (p.Thr102Asn)
2g.178014319T>ACA349703726PDE11Ac.1054A>T (p.Thr352Ser)
c.304A>T (p.Thr102Ser)
2g.178014319T>CCA349703728PDE11Ac.1054A>G (p.Thr352Ala)
c.304A>G (p.Thr102Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178014319T>GCA349703727PDE11Ac.1054A>C (p.Thr352Pro)
c.304A>C (p.Thr102Pro)
2g.178014319T=CA1310286805PDE11Ac.1054A= (p.Thr352=)
c.304A= (p.Thr102=)
2g.178014320A>CCA349703729PDE11Ac.1053T>G (p.Phe351Leu)
c.303T>G (p.Phe101Leu)
2g.178014320A>GCA430205413PDE11Ac.1053T>C (p.Phe351=)
c.303T>C (p.Phe101=)
2g.178014320A>TCA349703730PDE11Ac.1053T>A (p.Phe351Leu)
c.303T>A (p.Phe101Leu)
2g.178014321A>CCA349703731PDE11Ac.1052T>G (p.Phe351Cys)
c.302T>G (p.Phe101Cys)
2g.178014321A>GCA349703732PDE11Ac.1052T>C (p.Phe351Ser)
c.302T>C (p.Phe101Ser)
2g.178014321A>TCA349703733PDE11Ac.1052T>A (p.Phe351Tyr)
c.302T>A (p.Phe101Tyr)
2g.178014322A>CCA349703734PDE11Ac.1051T>G (p.Phe351Val)
c.301T>G (p.Phe101Val)
2g.178014322A>GCA349703735PDE11Ac.1051T>C (p.Phe351Leu)
c.301T>C (p.Phe101Leu)
2g.178014322A>TCA349703736PDE11Ac.1051T>A (p.Phe351Ile)
c.301T>A (p.Phe101Ile)
2g.178014323T>ACA430205414PDE11Ac.1050A>T (p.Pro350=)
c.300A>T (p.Pro100=)
2g.178014323T>CCA430205415PDE11Ac.1050A>G (p.Pro350=)
c.300A>G (p.Pro100=)
2g.178014323T>GCA430205416PDE11Ac.1050A>C (p.Pro350=)
c.300A>C (p.Pro100=)
2g.178014324G>ACA349703737PDE11Ac.1049C>T (p.Pro350Leu)
c.299C>T (p.Pro100Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178014324G>CCA349703738PDE11Ac.1049C>G (p.Pro350Arg)
c.299C>G (p.Pro100Arg)
2g.178014324G=CA1310286806PDE11Ac.1049C= (p.Pro350=)
c.299C= (p.Pro100=)
2g.178014324G>TCA349703739PDE11Ac.1049C>A (p.Pro350Gln)
c.299C>A (p.Pro100Gln)
2g.178014325G>ACA349703742PDE11Ac.1048C>T (p.Pro350Ser)
c.298C>T (p.Pro100Ser)
 gnomAD v4
2g.178014325G>CCA349703740PDE11Ac.1048C>G (p.Pro350Ala)
c.298C>G (p.Pro100Ala)
 gnomAD v4
2g.178014325G>TCA349703741PDE11Ac.1048C>A (p.Pro350Thr)
c.298C>A (p.Pro100Thr)
2g.178014326A>CCA430205417PDE11Ac.1047T>G (p.Ala349=)
c.297T>G (p.Ala99=)
2g.178014326A>GCA430205419PDE11Ac.1047T>C (p.Ala349=)
c.297T>C (p.Ala99=)
2g.178014326A>TCA430205418PDE11Ac.1047T>A (p.Ala349=)
c.297T>A (p.Ala99=)
2g.178014327G>ACA349703743PDE11Ac.1046C>T (p.Ala349Val)
c.296C>T (p.Ala99Val)
 gnomAD v4
2g.178014327G>CCA349703744PDE11Ac.1046C>G (p.Ala349Gly)
c.296C>G (p.Ala99Gly)
2g.178014327G>TCA349703745PDE11Ac.1046C>A (p.Ala349Asp)
c.296C>A (p.Ala99Asp)
 COSMIC COSMIC
2g.178014328C>ACA349703746PDE11Ac.1045G>T (p.Ala349Ser)
c.295G>T (p.Ala99Ser)
2g.178014328C=CA1310286807PDE11Ac.1045G= (p.Ala349=)
c.295G= (p.Ala99=)
2g.178014328C>GCA349703747PDE11Ac.1045G>C (p.Ala349Pro)
c.295G>C (p.Ala99Pro)
2g.178014328C>TCA1982140PDE11Ac.1045G>A (p.Ala349Thr)
c.295G>A (p.Ala99Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014329T>ACA61449347PDE11Ac.1044A>T (p.Gly348=)
c.294A>T (p.Gly98=)
 dbSNP
2g.178014329T>CCA430205420PDE11Ac.1044A>G (p.Gly348=)
c.294A>G (p.Gly98=)
2g.178014329T>GCA430205421PDE11Ac.1044A>C (p.Gly348=)
c.294A>C (p.Gly98=)
2g.178014329T=CA1310286808PDE11Ac.1044A= (p.Gly348=)
c.294A= (p.Gly98=)
2g.178014330C>ACA349703748PDE11Ac.1043G>T (p.Gly348Val)
c.293G>T (p.Gly98Val)
2g.178014330C>GCA349703749PDE11Ac.1043G>C (p.Gly348Ala)
c.293G>C (p.Gly98Ala)
2g.178014330C>TCA349703750PDE11Ac.1043G>A (p.Gly348Glu)
c.293G>A (p.Gly98Glu)
2g.178014331C>ACA349703753PDE11Ac.1042G>T (p.Gly348Ter)
c.292G>T (p.Gly98Ter)
2g.178014331C>GCA349703752PDE11Ac.1042G>C (p.Gly348Arg)
c.292G>C (p.Gly98Arg)
2g.178014331C>TCA349703751PDE11Ac.1042G>A (p.Gly348Arg)
c.292G>A (p.Gly98Arg)
2g.178014332T>ACA349703754PDE11Ac.1041A>T (p.Glu347Asp)
c.291A>T (p.Glu97Asp)
2g.178014332T>CCA430205422PDE11Ac.1041A>G (p.Glu347=)
c.291A>G (p.Glu97=)
 gnomAD v4
2g.178014332T>GCA349703755PDE11Ac.1041A>C (p.Glu347Asp)
c.291A>C (p.Glu97Asp)
2g.178014333_178014349delCA2577168377PDE11Ac.1025_1041del (p.Ile342ArgfsTer6)
c.275_291del (p.Ile92ArgfsTer6)
2g.178014333T>ACA349703756PDE11Ac.1040A>T (p.Glu347Val)
c.290A>T (p.Glu97Val)
 gnomAD v4
2g.178014333T>CCA349703757PDE11Ac.1040A>G (p.Glu347Gly)
c.290A>G (p.Glu97Gly)
2g.178014333T>GCA349703758PDE11Ac.1040A>C (p.Glu347Ala)
c.290A>C (p.Glu97Ala)
2g.178014334C>ACA349703759PDE11Ac.1039G>T (p.Glu347Ter)
c.289G>T (p.Glu97Ter)
2g.178014334C>GCA349703760PDE11Ac.1039G>C (p.Glu347Gln)
c.289G>C (p.Glu97Gln)
2g.178014334C>TCA349703761PDE11Ac.1039G>A (p.Glu347Lys)
c.289G>A (p.Glu97Lys)
2g.178014335A>CCA430205425PDE11Ac.1038T>G (p.Pro346=)
c.288T>G (p.Pro96=)
2g.178014335A>GCA430205424PDE11Ac.1038T>C (p.Pro346=)
c.288T>C (p.Pro96=)
 gnomAD v4
2g.178014335A>TCA430205423PDE11Ac.1038T>A (p.Pro346=)
c.288T>A (p.Pro96=)
2g.178014336G>ACA349703762PDE11Ac.1037C>T (p.Pro346Leu)
c.287C>T (p.Pro96Leu)
2g.178014336G>CCA349703763PDE11Ac.1037C>G (p.Pro346Arg)
c.287C>G (p.Pro96Arg)
2g.178014336G>TCA349703764PDE11Ac.1037C>A (p.Pro346His)
c.287C>A (p.Pro96His)
2g.178014337G>ACA349703766PDE11Ac.1036C>T (p.Pro346Ser)
c.286C>T (p.Pro96Ser)
 gnomAD v4
2g.178014337G>CCA61449348PDE11Ac.1036C>G (p.Pro346Ala)
c.286C>G (p.Pro96Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178014337G=CA1310286809PDE11Ac.1036C= (p.Pro346=)
c.286C= (p.Pro96=)
2g.178014337G>TCA349703765PDE11Ac.1036C>A (p.Pro346Thr)
c.286C>A (p.Pro96Thr)
 gnomAD v4
2g.178014338A=CA1310286810PDE11Ac.1035T= (p.Ile345=)
c.285T= (p.Ile95=)
2g.178014338A>CCA61449349PDE11Ac.1035T>G (p.Ile345Met)
c.285T>G (p.Ile95Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178014338A>GCA430205426PDE11Ac.1035T>C (p.Ile345=)
c.285T>C (p.Ile95=)
2g.178014338A>TCA430205427PDE11Ac.1035T>A (p.Ile345=)
c.285T>A (p.Ile95=)
 dbSNP gnomAD v3 gnomAD v4
2g.178014339A=CA1310286811PDE11Ac.1034T= (p.Ile345=)
c.284T= (p.Ile95=)
2g.178014339A>CCA349703767PDE11Ac.1034T>G (p.Ile345Ser)
c.284T>G (p.Ile95Ser)
2g.178014339A>GCA349703768PDE11Ac.1034T>C (p.Ile345Thr)
c.284T>C (p.Ile95Thr)
 COSMIC COSMIC
2g.178014339A>TCA349703769PDE11Ac.1034T>A (p.Ile345Asn)
c.284T>A (p.Ile95Asn)
 dbSNP
2g.178014340T>ACA349703770PDE11Ac.1033A>T (p.Ile345Phe)
c.283A>T (p.Ile95Phe)
 gnomAD v4
2g.178014340T>CCA1982141PDE11Ac.1033A>G (p.Ile345Val)
c.283A>G (p.Ile95Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014340T>GCA349703771PDE11Ac.1033A>C (p.Ile345Leu)
c.283A>C (p.Ile95Leu)
2g.178014340T=CA1310286812PDE11Ac.1033A= (p.Ile345=)
c.283A= (p.Ile95=)
2g.178014341C>ACA349703772PDE11Ac.1032G>T (p.Lys344Asn)
c.282G>T (p.Lys94Asn)
2g.178014341C=CA1310286813PDE11Ac.1032G= (p.Lys344=)
c.282G= (p.Lys94=)
2g.178014341C>GCA349703773PDE11Ac.1032G>C (p.Lys344Asn)
c.282G>C (p.Lys94Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.178014341C>TCA430205428PDE11Ac.1032G>A (p.Lys344=)
c.282G>A (p.Lys94=)
2g.178014342T>ACA349703774PDE11Ac.1031A>T (p.Lys344Met)
c.281A>T (p.Lys94Met)
2g.178014342T>CCA349703775PDE11Ac.1031A>G (p.Lys344Arg)
c.281A>G (p.Lys94Arg)
2g.178014342T>GCA349703776PDE11Ac.1031A>C (p.Lys344Thr)
c.281A>C (p.Lys94Thr)
2g.178014343T>ACA349703778PDE11Ac.1030A>T (p.Lys344Ter)
c.280A>T (p.Lys94Ter)
2g.178014343T>CCA349703779PDE11Ac.1030A>G (p.Lys344Glu)
c.280A>G (p.Lys94Glu)
 gnomAD v4
2g.178014343T>GCA349703777PDE11Ac.1030A>C (p.Lys344Gln)
c.280A>C (p.Lys94Gln)
2g.178014344A>CCA349703781PDE11Ac.1029T>G (p.Asn343Lys)
c.279T>G (p.Asn93Lys)
 gnomAD v4
2g.178014344A>GCA430205429PDE11Ac.1029T>C (p.Asn343=)
c.279T>C (p.Asn93=)
2g.178014344A>TCA349703780PDE11Ac.1029T>A (p.Asn343Lys)
c.279T>A (p.Asn93Lys)
2g.178014345T>ACA349703782PDE11Ac.1028A>T (p.Asn343Ile)
c.278A>T (p.Asn93Ile)
2g.178014345T>CCA349703783PDE11Ac.1028A>G (p.Asn343Ser)
c.278A>G (p.Asn93Ser)
 gnomAD v4
2g.178014345T>GCA349703784PDE11Ac.1028A>C (p.Asn343Thr)
c.278A>C (p.Asn93Thr)
2g.178014346T>ACA349703785PDE11Ac.1027A>T (p.Asn343Tyr)
c.277A>T (p.Asn93Tyr)
2g.178014346T>CCA349703786PDE11Ac.1027A>G (p.Asn343Asp)
c.277A>G (p.Asn93Asp)
2g.178014346T>GCA349703787PDE11Ac.1027A>C (p.Asn343His)
c.277A>C (p.Asn93His)
2g.178014347T>ACA430205430PDE11Ac.1026A>T (p.Ile342=)
c.276A>T (p.Ile92=)
2g.178014347T>CCA1982142PDE11Ac.1026A>G (p.Ile342Met)
c.276A>G (p.Ile92Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014347T>GCA430205431PDE11Ac.1026A>C (p.Ile342=)
c.276A>C (p.Ile92=)
2g.178014347T=CA1310286814PDE11Ac.1026A= (p.Ile342=)
c.276A= (p.Ile92=)
2g.178014348A>CCA349703788PDE11Ac.1025T>G (p.Ile342Arg)
c.275T>G (p.Ile92Arg)
2g.178014348A>GCA349703789PDE11Ac.1025T>C (p.Ile342Thr)
c.275T>C (p.Ile92Thr)
2g.178014348A>TCA349703790PDE11Ac.1025T>A (p.Ile342Lys)
c.275T>A (p.Ile92Lys)
2g.178014349T>ACA349703793PDE11Ac.1024A>T (p.Ile342Leu)
c.274A>T (p.Ile92Leu)
2g.178014349T>CCA349703792PDE11Ac.1024A>G (p.Ile342Val)
c.274A>G (p.Ile92Val)
2g.178014349T>GCA349703791PDE11Ac.1024A>C (p.Ile342Leu)
c.274A>C (p.Ile92Leu)
2g.178014350C>ACA430205433PDE11Ac.1023G>T (p.Ala341=)
c.273G>T (p.Ala91=)
2g.178014350C=CA1310286815PDE11Ac.1023G= (p.Ala341=)
c.273G= (p.Ala91=)
2g.178014350C>GCA430205432PDE11Ac.1023G>C (p.Ala341=)
c.273G>C (p.Ala91=)
2g.178014350C>TCA1982143PDE11Ac.1023G>A (p.Ala341=)
c.273G>A (p.Ala91=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.178014351G>ACA349703794PDE11Ac.1022C>T (p.Ala341Val)
c.272C>T (p.Ala91Val)
 gnomAD v4 COSMIC COSMIC
2g.178014351G>CCA349703795PDE11Ac.1022C>G (p.Ala341Gly)
c.272C>G (p.Ala91Gly)
2g.178014351G>TCA349703796PDE11Ac.1022C>A (p.Ala341Glu)
c.272C>A (p.Ala91Glu)
 gnomAD v4
2g.178014352C>ACA349703797PDE11Ac.1021G>T (p.Ala341Ser)
c.271G>T (p.Ala91Ser)
2g.178014352C>GCA349703798PDE11Ac.1021G>C (p.Ala341Pro)
c.271G>C (p.Ala91Pro)
2g.178014352C>TCA349703799PDE11Ac.1021G>A (p.Ala341Thr)
c.271G>A (p.Ala91Thr)
 gnomAD v4
2g.178014353T>ACA349703800PDE11Ac.1020A>T (p.Gln340His)
c.270A>T (p.Gln90His)
2g.178014353T>CCA430205434PDE11Ac.1020A>G (p.Gln340=)
c.270A>G (p.Gln90=)
2g.178014353T>GCA349703801PDE11Ac.1020A>C (p.Gln340His)
c.270A>C (p.Gln90His)
2g.178014354T>ACA349703802PDE11Ac.1019A>T (p.Gln340Leu)
c.269A>T (p.Gln90Leu)
2g.178014354T>CCA349703803PDE11Ac.1019A>G (p.Gln340Arg)
c.269A>G (p.Gln90Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178014354T>GCA349703804PDE11Ac.1019A>C (p.Gln340Pro)
c.269A>C (p.Gln90Pro)
2g.178014354T=CA1310286816PDE11Ac.1019A= (p.Gln340=)
c.269A= (p.Gln90=)
2g.178014355G>ACA349703806PDE11Ac.1018C>T (p.Gln340Ter)
c.268C>T (p.Gln90Ter)
 gnomAD v4
2g.178014355G>CCA349703807PDE11Ac.1018C>G (p.Gln340Glu)
c.268C>G (p.Gln90Glu)
2g.178014355G>TCA349703805PDE11Ac.1018C>A (p.Gln340Lys)
c.268C>A (p.Gln90Lys)
2g.178014356G>ACA430205435PDE11Ac.1017C>T (p.Ala339=)
c.267C>T (p.Ala89=)
 dbSNP
2g.178014356G>CCA430205436PDE11Ac.1017C>G (p.Ala339=)
c.267C>G (p.Ala89=)
2g.178014356G=CA1310286817PDE11Ac.1017C= (p.Ala339=)
c.267C= (p.Ala89=)
2g.178014356G>TCA430205437PDE11Ac.1017C>A (p.Ala339=)
c.267C>A (p.Ala89=)
 dbSNP
2g.178014357G>ACA349703808PDE11Ac.1016C>T (p.Ala339Val)
c.266C>T (p.Ala89Val)
 gnomAD v4
2g.178014357G>CCA349703809PDE11Ac.1016C>G (p.Ala339Gly)
c.266C>G (p.Ala89Gly)
2g.178014357G>TCA349703810PDE11Ac.1016C>A (p.Ala339Asp)
c.266C>A (p.Ala89Asp)
2g.178014358C>ACA349703811PDE11Ac.1015G>T (p.Ala339Ser)
c.265G>T (p.Ala89Ser)
2g.178014358C>GCA349703812PDE11Ac.1015G>C (p.Ala339Pro)
c.265G>C (p.Ala89Pro)
2g.178014358C>TCA349703813PDE11Ac.1015G>A (p.Ala339Thr)
c.265G>A (p.Ala89Thr)
2g.178014359C>ACA430205438PDE11Ac.1014G>T (p.Val338=)
c.264G>T (p.Val88=)
 dbSNP gnomAD v4
2g.178014359C=CA1310286818PDE11Ac.1014G= (p.Val338=)
c.264G= (p.Val88=)
2g.178014359C>GCA430205439PDE11Ac.1014G>C (p.Val338=)
c.264G>C (p.Val88=)
 dbSNP gnomAD v2 gnomAD v4
2g.178014359C>TCA430205440PDE11Ac.1014G>A (p.Val338=)
c.264G>A (p.Val88=)
2g.178014360A>CCA349703814PDE11Ac.1013T>G (p.Val338Gly)
c.263T>G (p.Val88Gly)
2g.178014360A>GCA349703815PDE11Ac.1013T>C (p.Val338Ala)
c.263T>C (p.Val88Ala)
2g.178014360A>TCA349703816PDE11Ac.1013T>A (p.Val338Glu)
c.263T>A (p.Val88Glu)
2g.178014361C>ACA349703817PDE11Ac.1012G>T (p.Val338Leu)
c.262G>T (p.Val88Leu)
 dbSNP
2g.178014361C=CA1310286819PDE11Ac.1012G= (p.Val338=)
c.262G= (p.Val88=)
2g.178014361C>GCA349703818PDE11Ac.1012G>C (p.Val338Leu)
c.262G>C (p.Val88Leu)
2g.178014361C>TCA349703819PDE11Ac.1012G>A (p.Val338Met)
c.262G>A (p.Val88Met)
2g.178014362A=CA1310286820PDE11Ac.1011T= (p.Gly337=)
c.261T= (p.Gly87=)
2g.178014362A>CCA430205441PDE11Ac.1011T>G (p.Gly337=)
c.261T>G (p.Gly87=)
2g.178014362A>GCA430205442PDE11Ac.1011T>C (p.Gly337=)
c.261T>C (p.Gly87=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.178014362A>TCA430205443PDE11Ac.1011T>A (p.Gly337=)
c.261T>A (p.Gly87=)
2g.178014363C>ACA349703821PDE11Ac.1010G>T (p.Gly337Val)
c.260G>T (p.Gly87Val)
2g.178014363C=CA1310286821PDE11Ac.1010G= (p.Gly337=)
c.260G= (p.Gly87=)
2g.178014363C>GCA349703822PDE11Ac.1010G>C (p.Gly337Ala)
c.260G>C (p.Gly87Ala)
 COSMIC COSMIC
2g.178014363C>TCA349703820PDE11Ac.1010G>A (p.Gly337Asp)
c.260G>A (p.Gly87Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.178014364C>ACA349703823PDE11Ac.1009G>T (p.Gly337Cys)
c.259G>T (p.Gly87Cys)
2g.178014364C>GCA349703824PDE11Ac.1009G>C (p.Gly337Arg)
c.259G>C (p.Gly87Arg)
2g.178014364C>TCA349703825PDE11Ac.1009G>A (p.Gly337Ser)
c.259G>A (p.Gly87Ser)
2g.178014365A>CCA349703826PDE11Ac.1008T>G (p.Ile336Met)
c.258T>G (p.Ile86Met)
 gnomAD v4
2g.178014365A>GCA430205444PDE11Ac.1008T>C (p.Ile336=)
c.258T>C (p.Ile86=)
2g.178014365A>TCA430205445PDE11Ac.1008T>A (p.Ile336=)
c.258T>A (p.Ile86=)
2g.178014366A>CCA349703827PDE11Ac.1007T>G (p.Ile336Ser)
c.257T>G (p.Ile86Ser)
2g.178014366A>GCA349703828PDE11Ac.1007T>C (p.Ile336Thr)
c.257T>C (p.Ile86Thr)
2g.178014366A>TCA349703829PDE11Ac.1007T>A (p.Ile336Asn)
c.257T>A (p.Ile86Asn)
2g.178014367T>ACA349703830PDE11Ac.1006A>T (p.Ile336Phe)
c.256A>T (p.Ile86Phe)
2g.178014367T>CCA349703832PDE11Ac.1006A>G (p.Ile336Val)
c.256A>G (p.Ile86Val)
 dbSNP gnomAD v3 gnomAD v4
2g.178014367T>GCA349703831PDE11Ac.1006A>C (p.Ile336Leu)
c.256A>C (p.Ile86Leu)
2g.178014367T=CA1310286822PDE11Ac.1006A= (p.Ile336=)
c.256A= (p.Ile86=)
2g.178014368A>CCA349703833PDE11Ac.1005T>G (p.Ile335Met)
c.255T>G (p.Ile85Met)
2g.178014368A>GCA430205446PDE11Ac.1005T>C (p.Ile335=)
c.255T>C (p.Ile85=)
2g.178014368A>TCA430205447PDE11Ac.1005T>A (p.Ile335=)
c.255T>A (p.Ile85=)
2g.178014369A=CA1310286823PDE11Ac.1004T= (p.Ile335=)
c.254T= (p.Ile85=)
2g.178014369A>CCA349703834PDE11Ac.1004T>G (p.Ile335Ser)
c.254T>G (p.Ile85Ser)
2g.178014369A>GCA1982144PDE11Ac.1004T>C (p.Ile335Thr)
c.254T>C (p.Ile85Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014369A>TCA349703835PDE11Ac.1004T>A (p.Ile335Asn)
c.254T>A (p.Ile85Asn)
2g.178014370T>ACA349703838PDE11Ac.1003A>T (p.Ile335Phe)
c.253A>T (p.Ile85Phe)
2g.178014370T>CCA349703837PDE11Ac.1003A>G (p.Ile335Val)
c.253A>G (p.Ile85Val)
2g.178014370T>GCA349703836PDE11Ac.1003A>C (p.Ile335Leu)
c.253A>C (p.Ile85Leu)
2g.178014371C>ACA349703839PDE11Ac.1002G>T (p.Glu334Asp)
c.252G>T (p.Glu84Asp)
2g.178014371C>GCA349703840PDE11Ac.1002G>C (p.Glu334Asp)
c.252G>C (p.Glu84Asp)
2g.178014371C>TCA430205448PDE11Ac.1002G>A (p.Glu334=)
c.252G>A (p.Glu84=)
2g.178014372T>ACA349703841PDE11Ac.1001A>T (p.Glu334Val)
c.251A>T (p.Glu84Val)
2g.178014372T>CCA349703843PDE11Ac.1001A>G (p.Glu334Gly)
c.251A>G (p.Glu84Gly)
2g.178014372T>GCA349703842PDE11Ac.1001A>C (p.Glu334Ala)
c.251A>C (p.Glu84Ala)
2g.178014373C>ACA1982145PDE11Ac.1000G>T (p.Glu334Ter)
c.250G>T (p.Glu84Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178014373C=CA1310286824PDE11Ac.1000G= (p.Glu334=)
c.250G= (p.Glu84=)
2g.178014373C>GCA349703844PDE11Ac.1000G>C (p.Glu334Gln)
c.250G>C (p.Glu84Gln)
2g.178014373C>TCA61449350PDE11Ac.1000G>A (p.Glu334Lys)
c.250G>A (p.Glu84Lys)
 dbSNP gnomAD v4
2g.178014374A>CCA430205449PDE11Ac.999T>G (p.Gly333=)
c.249T>G (p.Gly83=)
 gnomAD v4
2g.178014374A>GCA430205450PDE11Ac.999T>C (p.Gly333=)
c.249T>C (p.Gly83=)
2g.178014374A>TCA430205451PDE11Ac.999T>A (p.Gly333=)
c.249T>A (p.Gly83=)
2g.178014375C>ACA349703845PDE11Ac.998G>T (p.Gly333Val)
c.248G>T (p.Gly83Val)
2g.178014375C>GCA349703846PDE11Ac.998G>C (p.Gly333Ala)
c.248G>C (p.Gly83Ala)
2g.178014375C>TCA349703847PDE11Ac.998G>A (p.Gly333Asp)
c.248G>A (p.Gly83Asp)
2g.178014376C>ACA349703848PDE11Ac.997G>T (p.Gly333Cys)
c.247G>T (p.Gly83Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.178014376C=CA1310286825PDE11Ac.997G= (p.Gly333=)
c.247G= (p.Gly83=)
2g.178014376C>GCA349703849PDE11Ac.997G>C (p.Gly333Arg)
c.247G>C (p.Gly83Arg)
2g.178014376C>TCA349703850PDE11Ac.997G>A (p.Gly333Ser)
c.247G>A (p.Gly83Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178014377A>CCA349703851PDE11Ac.996T>G (p.Asp332Glu)
c.246T>G (p.Asp82Glu)
2g.178014377A>GCA430205452PDE11Ac.996T>C (p.Asp332=)
c.246T>C (p.Asp82=)
 gnomAD v4
2g.178014377A>TCA349703852PDE11Ac.996T>A (p.Asp332Glu)
c.246T>A (p.Asp82Glu)
2g.178014378T>ACA349703855PDE11Ac.995A>T (p.Asp332Val)
c.245A>T (p.Asp82Val)
2g.178014378T>CCA349703853PDE11Ac.995A>G (p.Asp332Gly)
c.245A>G (p.Asp82Gly)
2g.178014378T>GCA349703854PDE11Ac.995A>C (p.Asp332Ala)
c.245A>C (p.Asp82Ala)
2g.178014379C>ACA349703856PDE11Ac.994G>T (p.Asp332Tyr)
c.244G>T (p.Asp82Tyr)
2g.178014379C>GCA349703857PDE11Ac.994G>C (p.Asp332His)
c.244G>C (p.Asp82His)
2g.178014379C>TCA349703858PDE11Ac.994G>A (p.Asp332Asn)
c.244G>A (p.Asp82Asn)
2g.178014380A>CCA349703859PDE11Ac.993T>G (p.Ser331Arg)
c.243T>G (p.Ser81Arg)
2g.178014380A>GCA430205453PDE11Ac.993T>C (p.Ser331=)
c.243T>C (p.Ser81=)
 gnomAD v4
2g.178014380A>TCA349703860PDE11Ac.993T>A (p.Ser331Arg)
c.243T>A (p.Ser81Arg)
2g.178014381C>ACA349703861PDE11Ac.992G>T (p.Ser331Ile)
c.242G>T (p.Ser81Ile)
2g.178014381C>GCA349703862PDE11Ac.992G>C (p.Ser331Thr)
c.242G>C (p.Ser81Thr)
2g.178014381C>TCA349703863PDE11Ac.992G>A (p.Ser331Asn)
c.242G>A (p.Ser81Asn)
 gnomAD v4
2g.178014382T>ACA349703864PDE11Ac.991A>T (p.Ser331Cys)
c.241A>T (p.Ser81Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.178014382T>CCA349703865PDE11Ac.991A>G (p.Ser331Gly)
c.241A>G (p.Ser81Gly)
2g.178014382T>GCA349703866PDE11Ac.991A>C (p.Ser331Arg)
c.241A>C (p.Ser81Arg)
2g.178014382T=CA1310286826PDE11Ac.991A= (p.Ser331=)
c.241A= (p.Ser81=)
2g.178014383G>ACA430205454PDE11Ac.990C>T (p.Ser330=)
c.240C>T (p.Ser80=)
2g.178014383G>CCA349703868PDE11Ac.990C>G (p.Ser330Arg)
c.240C>G (p.Ser80Arg)
2g.178014383G>TCA349703867PDE11Ac.990C>A (p.Ser330Arg)
c.240C>A (p.Ser80Arg)
2g.178014384C>ACA349703869PDE11Ac.989G>T (p.Ser330Ile)
c.239G>T (p.Ser80Ile)
2g.178014384C>GCA349703870PDE11Ac.989G>C (p.Ser330Thr)
c.239G>C (p.Ser80Thr)
2g.178014384C>TCA349703871PDE11Ac.989G>A (p.Ser330Asn)
c.239G>A (p.Ser80Asn)
2g.178014385T>ACA349703872PDE11Ac.988A>T (p.Ser330Cys)
c.238A>T (p.Ser80Cys)
2g.178014385T>CCA349703873PDE11Ac.988A>G (p.Ser330Gly)
c.238A>G (p.Ser80Gly)
2g.178014385T>GCA349703874PDE11Ac.988A>C (p.Ser330Arg)
c.238A>C (p.Ser80Arg)
2g.178014386T>ACA430205455PDE11Ac.987A>T (p.Arg329=)
c.237A>T (p.Arg79=)
2g.178014386T>CCA430205456PDE11Ac.987A>G (p.Arg329=)
c.237A>G (p.Arg79=)
2g.178014386T>GCA430205457PDE11Ac.987A>C (p.Arg329=)
c.237A>C (p.Arg79=)
 dbSNP gnomAD v2 gnomAD v4
2g.178014386T=CA1310286827PDE11Ac.987A= (p.Arg329=)
c.237A= (p.Arg79=)
2g.178014387C>ACA349703875PDE11Ac.986G>T (p.Arg329Leu)
c.236G>T (p.Arg79Leu)
2g.178014387C=CA1310286828PDE11Ac.986G= (p.Arg329=)
c.236G= (p.Arg79=)
2g.178014387C>GCA349703876PDE11Ac.986G>C (p.Arg329Pro)
c.236G>C (p.Arg79Pro)
2g.178014387C>TCA1982146PDE11Ac.986G>A (p.Arg329Gln)
c.236G>A (p.Arg79Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.178014388G>ACA1982147PDE11Ac.985C>T (p.Arg329Ter)
c.235C>T (p.Arg79Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178014388G>CCA349703877PDE11Ac.985C>G (p.Arg329Gly)
c.235C>G (p.Arg79Gly)
2g.178014388G=CA1310286829PDE11Ac.985C= (p.Arg329=)
c.235C= (p.Arg79=)
2g.178014388G>TCA430205458PDE11Ac.985C>A (p.Arg329=)
c.235C>A (p.Arg79=)

Number of alleles fetched