Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54628001T>ACA370981308RP1c.4119T>A (p.Asn1373Lys)
c.787+5713T>A (n.787+5713T>A)
c.4140T>A (p.Asn1380Lys)
8g.54628001T>CCA461099925RP1c.4119T>C (p.Asn1373=)
c.787+5713T>C (n.787+5713T>C)
c.4140T>C (p.Asn1380=)
 dbSNP gnomAD v3 gnomAD v4
8g.54628001T>GCA370981307RP1c.4119T>G (p.Asn1373Lys)
c.787+5713T>G (n.787+5713T>G)
c.4140T>G (p.Asn1380Lys)
8g.54628001T=CA1785188983RP1c.4119T= (p.Asn1373=)
c.787+5713T= (n.787+5713T=)
c.4140T= (p.Asn1380=)
8g.54628002A>CCA370981309RP1c.4120A>C (p.Ile1374Leu)
c.787+5714A>C (n.787+5714A>C)
c.4141A>C (p.Ile1381Leu)
8g.54628002A>GCA370981311RP1c.4120A>G (p.Ile1374Val)
c.787+5714A>G (n.787+5714A>G)
c.4141A>G (p.Ile1381Val)
8g.54628002A>TCA370981310RP1c.4120A>T (p.Ile1374Phe)
c.787+5714A>T (n.787+5714A>T)
c.4141A>T (p.Ile1381Phe)
 gnomAD v4
8g.54628003T>ACA370981312RP1c.4121T>A (p.Ile1374Asn)
c.787+5715T>A (n.787+5715T>A)
c.4142T>A (p.Ile1381Asn)
8g.54628003T>CCA370981313RP1c.4121T>C (p.Ile1374Thr)
c.787+5715T>C (n.787+5715T>C)
c.4142T>C (p.Ile1381Thr)
8g.54628003T>GCA370981314RP1c.4121T>G (p.Ile1374Ser)
c.787+5715T>G (n.787+5715T>G)
c.4142T>G (p.Ile1381Ser)
8g.54628003_54628014delCA2524358896RP1c.4121_4132del (p.Ile1374_Pro1378delinsThr)
c.787+5715_787+5726del (n.787+5715_787+5726del)
c.4142_4153del (p.Ile1381_Pro1385delinsThr)
8g.54628004T>ACA461099926RP1c.4122T>A (p.Ile1374=)
c.787+5716T>A (n.787+5716T>A)
c.4143T>A (p.Ile1381=)
 dbSNP
8g.54628004T>CCA461099928RP1c.4122T>C (p.Ile1374=)
c.787+5716T>C (n.787+5716T>C)
c.4143T>C (p.Ile1381=)
8g.54628004T>GCA370981315RP1c.4122T>G (p.Ile1374Met)
c.787+5716T>G (n.787+5716T>G)
c.4143T>G (p.Ile1381Met)
8g.54628005T>ACA370981316RP1c.4123T>A (p.Leu1375Met)
c.787+5717T>A (n.787+5717T>A)
c.4144T>A (p.Leu1382Met)
8g.54628005T>CCA461099932RP1c.4123T>C (p.Leu1375=)
c.787+5717T>C (n.787+5717T>C)
c.4144T>C (p.Leu1382=)
8g.54628005T>GCA370981317RP1c.4123T>G (p.Leu1375Val)
c.787+5717T>G (n.787+5717T>G)
c.4144T>G (p.Leu1382Val)
8g.54628006T>ACA370981318RP1c.4124T>A (p.Leu1375Ter)
c.787+5718T>A (n.787+5718T>A)
c.4145T>A (p.Leu1382Ter)
8g.54628006T>CCA370981319RP1c.4124T>C (p.Leu1375Ser)
c.787+5718T>C (n.787+5718T>C)
c.4145T>C (p.Leu1382Ser)
8g.54628006T>GCA370981320RP1c.4124T>G (p.Leu1375Trp)
c.787+5718T>G (n.787+5718T>G)
c.4145T>G (p.Leu1382Trp)
8g.54628007G>ACA461099936RP1c.4125G>A (p.Leu1375=)
c.787+5719G>A (n.787+5719G>A)
c.4146G>A (p.Leu1382=)
8g.54628007G>CCA370981321RP1c.4125G>C (p.Leu1375Phe)
c.787+5719G>C (n.787+5719G>C)
c.4146G>C (p.Leu1382Phe)
8g.54628007G>TCA370981322RP1c.4125G>T (p.Leu1375Phe)
c.787+5719G>T (n.787+5719G>T)
c.4146G>T (p.Leu1382Phe)
 COSMIC
8g.54628008A>CCA370981325RP1c.4126A>C (p.Thr1376Pro)
c.787+5720A>C (n.787+5720A>C)
c.4147A>C (p.Thr1383Pro)
8g.54628008A>GCA370981324RP1c.4126A>G (p.Thr1376Ala)
c.787+5720A>G (n.787+5720A>G)
c.4147A>G (p.Thr1383Ala)
8g.54628008A>TCA370981323RP1c.4126A>T (p.Thr1376Ser)
c.787+5720A>T (n.787+5720A>T)
c.4147A>T (p.Thr1383Ser)
8g.54628009C>ACA370981326RP1c.4127C>A (p.Thr1376Lys)
c.787+5721C>A (n.787+5721C>A)
c.4148C>A (p.Thr1383Lys)
8g.54628009C>GCA370981327RP1c.4127C>G (p.Thr1376Arg)
c.787+5721C>G (n.787+5721C>G)
c.4148C>G (p.Thr1383Arg)
8g.54628009C>TCA370981328RP1c.4127C>T (p.Thr1376Ile)
c.787+5721C>T (n.787+5721C>T)
c.4148C>T (p.Thr1383Ile)
8g.54628010A>CCA461099941RP1c.4128A>C (p.Thr1376=)
c.787+5722A>C (n.787+5722A>C)
c.4149A>C (p.Thr1383=)
8g.54628010A>GCA461099942RP1c.4128A>G (p.Thr1376=)
c.787+5722A>G (n.787+5722A>G)
c.4149A>G (p.Thr1383=)
8g.54628010A>TCA461099939RP1c.4128A>T (p.Thr1376=)
c.787+5722A>T (n.787+5722A>T)
c.4149A>T (p.Thr1383=)
8g.54628011delCA2695209305RP1c.4129del (p.Asp1377ThrfsTer20)
c.787+5723del (n.787+5723del)
c.4150del (p.Asp1384ThrfsTer20)
8g.54628011G>ACA370981329RP1c.4129G>A (p.Asp1377Asn)
c.787+5723G>A (n.787+5723G>A)
c.4150G>A (p.Asp1384Asn)
8g.54628011G>CCA370981330RP1c.4129G>C (p.Asp1377His)
c.787+5723G>C (n.787+5723G>C)
c.4150G>C (p.Asp1384His)
8g.54628011G>TCA370981331RP1c.4129G>T (p.Asp1377Tyr)
c.787+5723G>T (n.787+5723G>T)
c.4150G>T (p.Asp1384Tyr)
8g.54628012A=CA1785188984RP1c.4130A= (p.Asp1377=)
c.787+5724A= (n.787+5724A=)
c.4151A= (p.Asp1384=)
8g.54628012A>CCA370981332RP1c.4130A>C (p.Asp1377Ala)
c.787+5724A>C (n.787+5724A>C)
c.4151A>C (p.Asp1384Ala)
8g.54628012A>GCA370981333RP1c.4130A>G (p.Asp1377Gly)
c.787+5724A>G (n.787+5724A>G)
c.4151A>G (p.Asp1384Gly)
 ClinVar dbSNP
8g.54628012A>TCA370981334RP1c.4130A>T (p.Asp1377Val)
c.787+5724A>T (n.787+5724A>T)
c.4151A>T (p.Asp1384Val)
8g.54628012_54628015delinsACCCCA1785188985RP1c.4130_4133delinsACCC (p.Asp1377=)
c.787+5724_787+5727delinsACCC (n.787+5724_787+5727delinsACCC)
c.4151_4154delinsACCC (p.Asp1384=)
8g.54628013C>ACA370981335RP1c.4131C>A (p.Asp1377Glu)
c.787+5725C>A (n.787+5725C>A)
c.4152C>A (p.Asp1384Glu)
 gnomAD v4
8g.54628013C=CA1785188986RP1c.4131C= (p.Asp1377=)
c.787+5725C= (n.787+5725C=)
c.4152C= (p.Asp1384=)
8g.54628013C>GCA4751804RP1c.4131C>G (p.Asp1377Glu)
c.787+5725C>G (n.787+5725C>G)
c.4152C>G (p.Asp1384Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628013C>TCA4751803RP1c.4131C>T (p.Asp1377=)
c.787+5725C>T (n.787+5725C>T)
c.4152C>T (p.Asp1384=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628013_54628015delCA582097044RP1c.4131_4133del (p.Pro1378del)
c.787+5725_787+5727del (n.787+5725_787+5727del)
c.4152_4154del (p.Pro1385del)
 dbSNP gnomAD v2 gnomAD v4
8g.54628014C>ACA370981336RP1c.4132C>A (p.Pro1378Thr)
c.787+5726C>A (n.787+5726C>A)
c.4153C>A (p.Pro1385Thr)
8g.54628014C=CA1785188987RP1c.4132C= (p.Pro1378=)
c.787+5726C= (n.787+5726C=)
c.4153C= (p.Pro1385=)
8g.54628014C>GCA370981337RP1c.4132C>G (p.Pro1378Ala)
c.787+5726C>G (n.787+5726C>G)
c.4153C>G (p.Pro1385Ala)
 gnomAD v4
8g.54628014C>TCA4751805RP1c.4132C>T (p.Pro1378Ser)
c.787+5726C>T (n.787+5726C>T)
c.4153C>T (p.Pro1385Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628015C>ACA370981338RP1c.4133C>A (p.Pro1378His)
c.787+5727C>A (n.787+5727C>A)
c.4154C>A (p.Pro1385His)
 COSMIC
8g.54628015C>GCA370981339RP1c.4133C>G (p.Pro1378Arg)
c.787+5727C>G (n.787+5727C>G)
c.4154C>G (p.Pro1385Arg)
8g.54628015C>TCA370981340RP1c.4133C>T (p.Pro1378Leu)
c.787+5727C>T (n.787+5727C>T)
c.4154C>T (p.Pro1385Leu)
 ClinVar
8g.54628016T>ACA461099953RP1c.4134T>A (p.Pro1378=)
c.787+5728T>A (n.787+5728T>A)
c.4155T>A (p.Pro1385=)
8g.54628016T>CCA461099954RP1c.4134T>C (p.Pro1378=)
c.787+5728T>C (n.787+5728T>C)
c.4155T>C (p.Pro1385=)
 dbSNP gnomAD v2 gnomAD v4
8g.54628016T>GCA461099956RP1c.4134T>G (p.Pro1378=)
c.787+5728T>G (n.787+5728T>G)
c.4155T>G (p.Pro1385=)
8g.54628016T=CA1785188988RP1c.4134T= (p.Pro1378=)
c.787+5728T= (n.787+5728T=)
c.4155T= (p.Pro1385=)
8g.54628017delCA2566860166RP1c.4135del (p.Glu1379AsnfsTer18)
c.787+5729del (n.787+5729del)
c.4156del (p.Glu1386AsnfsTer18)
8g.54628017G>ACA370981341RP1c.4135G>A (p.Glu1379Lys)
c.787+5729G>A (n.787+5729G>A)
c.4156G>A (p.Glu1386Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.54628017G>CCA370981342RP1c.4135G>C (p.Glu1379Gln)
c.787+5729G>C (n.787+5729G>C)
c.4156G>C (p.Glu1386Gln)
8g.54628017G=CA1785188989RP1c.4135G= (p.Glu1379=)
c.787+5729G= (n.787+5729G=)
c.4156G= (p.Glu1386=)
8g.54628017G>TCA370981343RP1c.4135G>T (p.Glu1379Ter)
c.787+5729G>T (n.787+5729G>T)
c.4156G>T (p.Glu1386Ter)
8g.54628018A=CA1785188990RP1c.4136A= (p.Glu1379=)
c.787+5730A= (n.787+5730A=)
c.4157A= (p.Glu1386=)
8g.54628018A>CCA4751806RP1c.4136A>C (p.Glu1379Ala)
c.787+5730A>C (n.787+5730A>C)
c.4157A>C (p.Glu1386Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628018A>GCA370981344RP1c.4136A>G (p.Glu1379Gly)
c.787+5730A>G (n.787+5730A>G)
c.4157A>G (p.Glu1386Gly)
8g.54628018A>TCA370981345RP1c.4136A>T (p.Glu1379Val)
c.787+5730A>T (n.787+5730A>T)
c.4157A>T (p.Glu1386Val)
8g.54628019A=CA1785188991RP1c.4137A= (p.Glu1379=)
c.787+5731A= (n.787+5731A=)
c.4158A= (p.Glu1386=)
8g.54628019A>CCA370981346RP1c.4137A>C (p.Glu1379Asp)
c.787+5731A>C (n.787+5731A>C)
c.4158A>C (p.Glu1386Asp)
8g.54628019A>GCA461099960RP1c.4137A>G (p.Glu1379=)
c.787+5731A>G (n.787+5731A>G)
c.4158A>G (p.Glu1386=)
 dbSNP gnomAD v3 gnomAD v4
8g.54628019A>TCA370981347RP1c.4137A>T (p.Glu1379Asp)
c.787+5731A>T (n.787+5731A>T)
c.4158A>T (p.Glu1386Asp)
8g.54628020T>ACA370981348RP1c.4138T>A (p.Tyr1380Asn)
c.787+5732T>A (n.787+5732T>A)
c.4159T>A (p.Tyr1387Asn)
8g.54628020T>CCA370981349RP1c.4138T>C (p.Tyr1380His)
c.787+5732T>C (n.787+5732T>C)
c.4159T>C (p.Tyr1387His)
8g.54628020T>GCA370981350RP1c.4138T>G (p.Tyr1380Asp)
c.787+5732T>G (n.787+5732T>G)
c.4159T>G (p.Tyr1387Asp)
8g.54628020_54628039delinsTATAAAAATGGATTTAATACCA1785188992RP1c.4138_4157delinsTATAAAAATGGATTTAATAC (p.Tyr1380=)
c.787+5732_787+5751delinsTATAAAAATGGATTTAATAC (n.787+5732_787+5751delinsTATAAAAATGGATTTAATAC)
c.4159_4178delinsTATAAAAATGGATTTAATAC (p.Tyr1387=)
8g.54628021delCA2523609323RP1c.4139del (p.Tyr1380LeufsTer17)
c.787+5733del (n.787+5733del)
c.4160del (p.Tyr1387LeufsTer17)
8g.54628021A=CA1785188994RP1c.4139A= (p.Tyr1380=)
c.787+5733A= (n.787+5733A=)
c.4160A= (p.Tyr1387=)
8g.54628021A>CCA370981351RP1c.4139A>C (p.Tyr1380Ser)
c.787+5733A>C (n.787+5733A>C)
c.4160A>C (p.Tyr1387Ser)
8g.54628021A>GCA370981353RP1c.4139A>G (p.Tyr1380Cys)
c.787+5733A>G (n.787+5733A>G)
c.4160A>G (p.Tyr1387Cys)
 dbSNP gnomAD v4
8g.54628021A>TCA370981352RP1c.4139A>T (p.Tyr1380Phe)
c.787+5733A>T (n.787+5733A>T)
c.4160A>T (p.Tyr1387Phe)
 COSMIC
8g.54628023_54628041delCA1785188993RP1c.4141_4159del (p.Lys1381TrpfsTer10)
c.787+5735_787+5753del (n.787+5735_787+5753del)
c.4162_4180del (p.Lys1388TrpfsTer10)
 dbSNP gnomAD v4
8g.54628022T>ACA370981354RP1c.4140T>A (p.Tyr1380Ter)
c.787+5734T>A (n.787+5734T>A)
c.4161T>A (p.Tyr1387Ter)
8g.54628022T>CCA461099964RP1c.4140T>C (p.Tyr1380=)
c.787+5734T>C (n.787+5734T>C)
c.4161T>C (p.Tyr1387=)
 ClinVar dbSNP
8g.54628022T>GCA370981355RP1c.4140T>G (p.Tyr1380Ter)
c.787+5734T>G (n.787+5734T>G)
c.4161T>G (p.Tyr1387Ter)
8g.54628022T=CA1785188995RP1c.4140T= (p.Tyr1380=)
c.787+5734T= (n.787+5734T=)
c.4161T= (p.Tyr1387=)
8g.54628023A=CA1785188996RP1c.4141A= (p.Lys1381=)
c.787+5735A= (n.787+5735A=)
c.4162A= (p.Lys1388=)
8g.54628023A>CCA370981356RP1c.4141A>C (p.Lys1381Gln)
c.787+5735A>C (n.787+5735A>C)
c.4162A>C (p.Lys1388Gln)
 COSMIC
8g.54628023A>GCA177181299RP1c.4141A>G (p.Lys1381Glu)
c.787+5735A>G (n.787+5735A>G)
c.4162A>G (p.Lys1388Glu)
 dbSNP gnomAD v4
8g.54628023A>TCA370981357RP1c.4141A>T (p.Lys1381Ter)
c.787+5735A>T (n.787+5735A>T)
c.4162A>T (p.Lys1388Ter)
8g.54628024A=CA1785188997RP1c.4142A= (p.Lys1381=)
c.787+5736A= (n.787+5736A=)
c.4163A= (p.Lys1388=)
8g.54628024A>CCA370981358RP1c.4142A>C (p.Lys1381Thr)
c.787+5736A>C (n.787+5736A>C)
c.4163A>C (p.Lys1388Thr)
 dbSNP
8g.54628024A>GCA370981359RP1c.4142A>G (p.Lys1381Arg)
c.787+5736A>G (n.787+5736A>G)
c.4163A>G (p.Lys1388Arg)
8g.54628024A>TCA370981360RP1c.4142A>T (p.Lys1381Ile)
c.787+5736A>T (n.787+5736A>T)
c.4163A>T (p.Lys1388Ile)
8g.54628025A>CCA370981361RP1c.4143A>C (p.Lys1381Asn)
c.787+5737A>C (n.787+5737A>C)
c.4164A>C (p.Lys1388Asn)
 gnomAD v4
8g.54628025A>GCA461099967RP1c.4143A>G (p.Lys1381=)
c.787+5737A>G (n.787+5737A>G)
c.4164A>G (p.Lys1388=)
8g.54628025A>TCA370981362RP1c.4143A>T (p.Lys1381Asn)
c.787+5737A>T (n.787+5737A>T)
c.4164A>T (p.Lys1388Asn)
8g.54628026A>CCA370981363RP1c.4144A>C (p.Asn1382His)
c.787+5738A>C (n.787+5738A>C)
c.4165A>C (p.Asn1389His)
 COSMIC
8g.54628026A>GCA370981364RP1c.4144A>G (p.Asn1382Asp)
c.787+5738A>G (n.787+5738A>G)
c.4165A>G (p.Asn1389Asp)
8g.54628026A>TCA370981365RP1c.4144A>T (p.Asn1382Tyr)
c.787+5738A>T (n.787+5738A>T)
c.4165A>T (p.Asn1389Tyr)
8g.54628026_54628027insCCA2520510708RP1c.4144_4145insC (p.Asn1382ThrfsTer4)
c.787+5738_787+5739insC (n.787+5738_787+5739insC)
c.4165_4166insC (p.Asn1389ThrfsTer4)
8g.54628027A>CCA370981367RP1c.4145A>C (p.Asn1382Thr)
c.787+5739A>C (n.787+5739A>C)
c.4166A>C (p.Asn1389Thr)
8g.54628027A>GCA370981368RP1c.4145A>G (p.Asn1382Ser)
c.787+5739A>G (n.787+5739A>G)
c.4166A>G (p.Asn1389Ser)
8g.54628027A>TCA370981366RP1c.4145A>T (p.Asn1382Ile)
c.787+5739A>T (n.787+5739A>T)
c.4166A>T (p.Asn1389Ile)
8g.54628027_54628032delinsATGGATCA1785188998RP1c.4145_4150delinsATGGAT (p.Asn1382=)
c.787+5739_787+5744delinsATGGAT (n.787+5739_787+5744delinsATGGAT)
c.4166_4171delinsATGGAT (p.Asn1389=)
8g.54628028T>ACA370981370RP1c.4146T>A (p.Asn1382Lys)
c.787+5740T>A (n.787+5740T>A)
c.4167T>A (p.Asn1389Lys)
8g.54628028T>CCA461099731RP1c.4146T>C (p.Asn1382=)
c.787+5740T>C (n.787+5740T>C)
c.4167T>C (p.Asn1389=)
8g.54628028T>GCA370981369RP1c.4146T>G (p.Asn1382Lys)
c.787+5740T>G (n.787+5740T>G)
c.4167T>G (p.Asn1389Lys)
8g.54628029_54628033delCA582159200RP1c.4147_4151del (p.Gly1383Ter)
c.787+5741_787+5745del (n.787+5741_787+5745del)
c.4168_4172del (p.Gly1390Ter)
 dbSNP gnomAD v2 gnomAD v4
8g.54628029G>ACA370981372RP1c.4147G>A (p.Gly1383Arg)
c.787+5741G>A (n.787+5741G>A)
c.4168G>A (p.Gly1390Arg)
 gnomAD v4
8g.54628029G>CCA370981371RP1c.4147G>C (p.Gly1383Arg)
c.787+5741G>C (n.787+5741G>C)
c.4168G>C (p.Gly1390Arg)
8g.54628029G>TCA370981373RP1c.4147G>T (p.Gly1383Ter)
c.787+5741G>T (n.787+5741G>T)
c.4168G>T (p.Gly1390Ter)
8g.54628030G>ACA370981374RP1c.4148G>A (p.Gly1383Glu)
c.787+5742G>A (n.787+5742G>A)
c.4169G>A (p.Gly1390Glu)
 gnomAD v4
8g.54628030G>CCA370981376RP1c.4148G>C (p.Gly1383Ala)
c.787+5742G>C (n.787+5742G>C)
c.4169G>C (p.Gly1390Ala)
8g.54628030G=CA1785188999RP1c.4148G= (p.Gly1383=)
c.787+5742G= (n.787+5742G=)
c.4169G= (p.Gly1390=)
8g.54628030G>TCA370981375RP1c.4148G>T (p.Gly1383Val)
c.787+5742G>T (n.787+5742G>T)
c.4169G>T (p.Gly1390Val)
 dbSNP COSMIC
8g.54628030_54628031delCA2550508963RP1c.4148_4149del (p.Gly1383ValfsTer2)
c.787+5742_787+5743del (n.787+5742_787+5743del)
c.4169_4170del (p.Gly1390ValfsTer2)
8g.54628031A=CA1785189000RP1c.4149A= (p.Gly1383=)
c.787+5743A= (n.787+5743A=)
c.4170A= (p.Gly1390=)
8g.54628031A>CCA461099734RP1c.4149A>C (p.Gly1383=)
c.787+5743A>C (n.787+5743A>C)
c.4170A>C (p.Gly1390=)
8g.54628031A>GCA461099735RP1c.4149A>G (p.Gly1383=)
c.787+5743A>G (n.787+5743A>G)
c.4170A>G (p.Gly1390=)
8g.54628031A>TCA4751807RP1c.4149A>T (p.Gly1383=)
c.787+5743A>T (n.787+5743A>T)
c.4170A>T (p.Gly1390=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628032T>ACA370981377RP1c.4150T>A (p.Phe1384Ile)
c.787+5744T>A (n.787+5744T>A)
c.4171T>A (p.Phe1391Ile)
8g.54628032T>CCA370981378RP1c.4150T>C (p.Phe1384Leu)
c.787+5744T>C (n.787+5744T>C)
c.4171T>C (p.Phe1391Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.54628032T>GCA370981379RP1c.4150T>G (p.Phe1384Val)
c.787+5744T>G (n.787+5744T>G)
c.4171T>G (p.Phe1391Val)
8g.54628032T=CA1785189001RP1c.4150T= (p.Phe1384=)
c.787+5744T= (n.787+5744T=)
c.4171T= (p.Phe1391=)
8g.54628033T>ACA370981380RP1c.4151T>A (p.Phe1384Tyr)
c.787+5745T>A (n.787+5745T>A)
c.4172T>A (p.Phe1391Tyr)
8g.54628033T>CCA370981381RP1c.4151T>C (p.Phe1384Ser)
c.787+5745T>C (n.787+5745T>C)
c.4172T>C (p.Phe1391Ser)
8g.54628033T>GCA177181338RP1c.4151T>G (p.Phe1384Cys)
c.787+5745T>G (n.787+5745T>G)
c.4172T>G (p.Phe1391Cys)
 dbSNP COSMIC
8g.54628033T=CA1785189002RP1c.4151T= (p.Phe1384=)
c.787+5745T= (n.787+5745T=)
c.4172T= (p.Phe1391=)
8g.54628034T>ACA370981382RP1c.4152T>A (p.Phe1384Leu)
c.787+5746T>A (n.787+5746T>A)
c.4173T>A (p.Phe1391Leu)
8g.54628034T>CCA461099739RP1c.4152T>C (p.Phe1384=)
c.787+5746T>C (n.787+5746T>C)
c.4173T>C (p.Phe1391=)
8g.54628034T>GCA370981383RP1c.4152T>G (p.Phe1384Leu)
c.787+5746T>G (n.787+5746T>G)
c.4173T>G (p.Phe1391Leu)
8g.54628035A=CA1785189003RP1c.4153A= (p.Asn1385=)
c.787+5747A= (n.787+5747A=)
c.4174A= (p.Asn1392=)
8g.54628035A>CCA370981385RP1c.4153A>C (p.Asn1385His)
c.787+5747A>C (n.787+5747A>C)
c.4174A>C (p.Asn1392His)
 dbSNP
8g.54628035A>GCA370981387RP1c.4153A>G (p.Asn1385Asp)
c.787+5747A>G (n.787+5747A>G)
c.4174A>G (p.Asn1392Asp)
8g.54628035A>TCA370981389RP1c.4153A>T (p.Asn1385Tyr)
c.787+5747A>T (n.787+5747A>T)
c.4174A>T (p.Asn1392Tyr)
8g.54628036A>CCA370981395RP1c.4154A>C (p.Asn1385Thr)
c.787+5748A>C (n.787+5748A>C)
c.4175A>C (p.Asn1392Thr)
8g.54628036A>GCA370981392RP1c.4154A>G (p.Asn1385Ser)
c.787+5748A>G (n.787+5748A>G)
c.4175A>G (p.Asn1392Ser)
8g.54628036A>TCA370981393RP1c.4154A>T (p.Asn1385Ile)
c.787+5748A>T (n.787+5748A>T)
c.4175A>T (p.Asn1392Ile)
8g.54628037T>ACA370981397RP1c.4155T>A (p.Asn1385Lys)
c.787+5749T>A (n.787+5749T>A)
c.4176T>A (p.Asn1392Lys)
8g.54628037T>CCA461099743RP1c.4155T>C (p.Asn1385=)
c.787+5749T>C (n.787+5749T>C)
c.4176T>C (p.Asn1392=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54628037T>GCA370981399RP1c.4155T>G (p.Asn1385Lys)
c.787+5749T>G (n.787+5749T>G)
c.4176T>G (p.Asn1392Lys)
8g.54628037T=CA1785189004RP1c.4155T= (p.Asn1385=)
c.787+5749T= (n.787+5749T=)
c.4176T= (p.Asn1392=)
8g.54628038A>CCA370981402RP1c.4156A>C (p.Thr1386Pro)
c.787+5750A>C (n.787+5750A>C)
c.4177A>C (p.Thr1393Pro)
8g.54628038A>GCA370981403RP1c.4156A>G (p.Thr1386Ala)
c.787+5750A>G (n.787+5750A>G)
c.4177A>G (p.Thr1393Ala)
8g.54628038A>TCA370981405RP1c.4156A>T (p.Thr1386Ser)
c.787+5750A>T (n.787+5750A>T)
c.4177A>T (p.Thr1393Ser)
8g.54628039C>ACA370981409RP1c.4157C>A (p.Thr1386Lys)
c.787+5751C>A (n.787+5751C>A)
c.4178C>A (p.Thr1393Lys)
8g.54628039C=CA1785189005RP1c.4157C= (p.Thr1386=)
c.787+5751C= (n.787+5751C=)
c.4178C= (p.Thr1393=)
8g.54628039C>GCA370981411RP1c.4157C>G (p.Thr1386Arg)
c.787+5751C>G (n.787+5751C>G)
c.4178C>G (p.Thr1393Arg)
8g.54628039C>TCA4751808RP1c.4157C>T (p.Thr1386Ile)
c.787+5751C>T (n.787+5751C>T)
c.4178C>T (p.Thr1393Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628040A>CCA461099748RP1c.4158A>C (p.Thr1386=)
c.787+5752A>C (n.787+5752A>C)
c.4179A>C (p.Thr1393=)
8g.54628040A>GCA461099749RP1c.4158A>G (p.Thr1386=)
c.787+5752A>G (n.787+5752A>G)
c.4179A>G (p.Thr1393=)
 ClinVar gnomAD v4
8g.54628040A>TCA461099750RP1c.4158A>T (p.Thr1386=)
c.787+5752A>T (n.787+5752A>T)
c.4179A>T (p.Thr1393=)
8g.54628041T>ACA370981414RP1c.4159T>A (p.Leu1387Met)
c.787+5753T>A (n.787+5753T>A)
c.4180T>A (p.Leu1394Met)
8g.54628041T>CCA461099753RP1c.4159T>C (p.Leu1387=)
c.787+5753T>C (n.787+5753T>C)
c.4180T>C (p.Leu1394=)
 dbSNP gnomAD v4
8g.54628041T>GCA370981416RP1c.4159T>G (p.Leu1387Val)
c.787+5753T>G (n.787+5753T>G)
c.4180T>G (p.Leu1394Val)
8g.54628041T=CA1785189006RP1c.4159T= (p.Leu1387=)
c.787+5753T= (n.787+5753T=)
c.4180T= (p.Leu1394=)
8g.54628042T>ACA370981423RP1c.4160T>A (p.Leu1387Ter)
c.787+5754T>A (n.787+5754T>A)
c.4181T>A (p.Leu1394Ter)
 gnomAD v4
8g.54628042T>CCA370981421RP1c.4160T>C (p.Leu1387Ser)
c.787+5754T>C (n.787+5754T>C)
c.4181T>C (p.Leu1394Ser)
8g.54628042T>GCA370981419RP1c.4160T>G (p.Leu1387Trp)
c.787+5754T>G (n.787+5754T>G)
c.4181T>G (p.Leu1394Trp)
 gnomAD v4
8g.54628043G>ACA4751809RP1c.4161G>A (p.Leu1387=)
c.787+5755G>A (n.787+5755G>A)
c.4182G>A (p.Leu1394=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628043G>CCA370981428RP1c.4161G>C (p.Leu1387Phe)
c.787+5755G>C (n.787+5755G>C)
c.4182G>C (p.Leu1394Phe)
 gnomAD v4
8g.54628043G=CA1785189007RP1c.4161G= (p.Leu1387=)
c.787+5755G= (n.787+5755G=)
c.4182G= (p.Leu1394=)
8g.54628043G>TCA370981431RP1c.4161G>T (p.Leu1387Phe)
c.787+5755G>T (n.787+5755G>T)
c.4182G>T (p.Leu1394Phe)
8g.54628044G>ACA370981433RP1c.4162G>A (p.Val1388Met)
c.787+5756G>A (n.787+5756G>A)
c.4183G>A (p.Val1395Met)
 gnomAD v4
8g.54628044G>CCA370981435RP1c.4162G>C (p.Val1388Leu)
c.787+5756G>C (n.787+5756G>C)
c.4183G>C (p.Val1395Leu)
8g.54628044G>TCA370981437RP1c.4162G>T (p.Val1388Leu)
c.787+5756G>T (n.787+5756G>T)
c.4183G>T (p.Val1395Leu)
8g.54628045T>ACA370981439RP1c.4163T>A (p.Val1388Glu)
c.787+5757T>A (n.787+5757T>A)
c.4184T>A (p.Val1395Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.54628045T>CCA370981441RP1c.4163T>C (p.Val1388Ala)
c.787+5757T>C (n.787+5757T>C)
c.4184T>C (p.Val1395Ala)
8g.54628045T>GCA370981443RP1c.4163T>G (p.Val1388Gly)
c.787+5757T>G (n.787+5757T>G)
c.4184T>G (p.Val1395Gly)
8g.54628045T=CA1785189008RP1c.4163T= (p.Val1388=)
c.787+5757T= (n.787+5757T=)
c.4184T= (p.Val1395=)
8g.54628046G>ACA461099761RP1c.4164G>A (p.Val1388=)
c.787+5758G>A (n.787+5758G>A)
c.4185G>A (p.Val1395=)
 gnomAD v4
8g.54628046G>CCA461099763RP1c.4164G>C (p.Val1388=)
c.787+5758G>C (n.787+5758G>C)
c.4185G>C (p.Val1395=)
8g.54628046G>TCA461099764RP1c.4164G>T (p.Val1388=)
c.787+5758G>T (n.787+5758G>T)
c.4185G>T (p.Val1395=)
 gnomAD v4
8g.54628047T>ACA370981445RP1c.4165T>A (p.Ser1389Thr)
c.787+5759T>A (n.787+5759T>A)
c.4186T>A (p.Ser1396Thr)
8g.54628047T>CCA4751810RP1c.4165T>C (p.Ser1389Pro)
c.787+5759T>C (n.787+5759T>C)
c.4186T>C (p.Ser1396Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628047T>GCA370981449RP1c.4165T>G (p.Ser1389Ala)
c.787+5759T>G (n.787+5759T>G)
c.4186T>G (p.Ser1396Ala)
8g.54628047T=CA1785189009RP1c.4165T= (p.Ser1389=)
c.787+5759T= (n.787+5759T=)
c.4186T= (p.Ser1396=)
8g.54628048C>ACA370981455RP1c.4166C>A (p.Ser1389Ter)
c.787+5760C>A (n.787+5760C>A)
c.4187C>A (p.Ser1396Ter)
8g.54628048C>GCA370981451RP1c.4166C>G (p.Ser1389Ter)
c.787+5760C>G (n.787+5760C>G)
c.4187C>G (p.Ser1396Ter)
 gnomAD v4
8g.54628048C>TCA370981453RP1c.4166C>T (p.Ser1389Leu)
c.787+5760C>T (n.787+5760C>T)
c.4187C>T (p.Ser1396Leu)
8g.54628049A=CA1785189010RP1c.4167A= (p.Ser1389=)
c.787+5761A= (n.787+5761A=)
c.4188A= (p.Ser1396=)
8g.54628049A>CCA461099767RP1c.4167A>C (p.Ser1389=)
c.787+5761A>C (n.787+5761A>C)
c.4188A>C (p.Ser1396=)
8g.54628049A>GCA4751811RP1c.4167A>G (p.Ser1389=)
c.787+5761A>G (n.787+5761A>G)
c.4188A>G (p.Ser1396=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628049A>TCA461099768RP1c.4167A>T (p.Ser1389=)
c.787+5761A>T (n.787+5761A>T)
c.4188A>T (p.Ser1396=)
8g.54628050C>ACA370981460RP1c.4168C>A (p.His1390Asn)
c.787+5762C>A (n.787+5762C>A)
c.4189C>A (p.His1397Asn)
8g.54628050C=CA1785189011RP1c.4168C= (p.His1390=)
c.787+5762C= (n.787+5762C=)
c.4189C= (p.His1397=)
8g.54628050C>GCA370981461RP1c.4168C>G (p.His1390Asp)
c.787+5762C>G (n.787+5762C>G)
c.4189C>G (p.His1397Asp)
8g.54628050C>TCA370981464RP1c.4168C>T (p.His1390Tyr)
c.787+5762C>T (n.787+5762C>T)
c.4189C>T (p.His1397Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.54628050_54628051insTCA2695209306RP1c.4168_4169insT (p.His1390LeufsTer6)
c.787+5762_787+5763insT (n.787+5762_787+5763insT)
c.4189_4190insT (p.His1397LeufsTer6)
8g.54628051A=CA1785189012RP1c.4169A= (p.His1390=)
c.787+5763A= (n.787+5763A=)
c.4190A= (p.His1397=)
8g.54628051A>CCA370981468RP1c.4169A>C (p.His1390Pro)
c.787+5763A>C (n.787+5763A>C)
c.4190A>C (p.His1397Pro)
8g.54628051A>GCA370981469RP1c.4169A>G (p.His1390Arg)
c.787+5763A>G (n.787+5763A>G)
c.4190A>G (p.His1397Arg)
8g.54628051A>TCA370981471RP1c.4169A>T (p.His1390Leu)
c.787+5763A>T (n.787+5763A>T)
c.4190A>T (p.His1397Leu)
 dbSNP
8g.54628051delinsTGCA2695209307RP1c.4169delinsTG (p.His1390LeufsTer6)
c.787+5763delinsTG (n.787+5763delinsTG)
c.4190delinsTG (p.His1397LeufsTer6)
8g.54628052T>ACA370981472RP1c.4170T>A (p.His1390Gln)
c.787+5764T>A (n.787+5764T>A)
c.4191T>A (p.His1397Gln)
8g.54628052T>CCA461099773RP1c.4170T>C (p.His1390=)
c.787+5764T>C (n.787+5764T>C)
c.4191T>C (p.His1397=)
8g.54628052T>GCA370981473RP1c.4170T>G (p.His1390Gln)
c.787+5764T>G (n.787+5764T>G)
c.4191T>G (p.His1397Gln)
8g.54628053delCA2499219352RP1c.4171del (p.Gln1391LysfsTer6)
c.787+5765del (n.787+5765del)
c.4192del (p.Gln1398LysfsTer6)
 ClinVar dbSNP
8g.54628053C>ACA370981475RP1c.4171C>A (p.Gln1391Lys)
c.787+5765C>A (n.787+5765C>A)
c.4192C>A (p.Gln1398Lys)
8g.54628053C>GCA370981477RP1c.4171C>G (p.Gln1391Glu)
c.787+5765C>G (n.787+5765C>G)
c.4192C>G (p.Gln1398Glu)
8g.54628053C>TCA370981479RP1c.4171C>T (p.Gln1391Ter)
c.787+5765C>T (n.787+5765C>T)
c.4192C>T (p.Gln1398Ter)
8g.54628054A>CCA370981481RP1c.4172A>C (p.Gln1391Pro)
c.787+5766A>C (n.787+5766A>C)
c.4193A>C (p.Gln1398Pro)
8g.54628054A>GCA370981482RP1c.4172A>G (p.Gln1391Arg)
c.787+5766A>G (n.787+5766A>G)
c.4193A>G (p.Gln1398Arg)
8g.54628054A>TCA370981480RP1c.4172A>T (p.Gln1391Leu)
c.787+5766A>T (n.787+5766A>T)
c.4193A>T (p.Gln1398Leu)
8g.54628055A>CCA370981484RP1c.4173A>C (p.Gln1391His)
c.787+5767A>C (n.787+5767A>C)
c.4194A>C (p.Gln1398His)
8g.54628055A>GCA461099779RP1c.4173A>G (p.Gln1391=)
c.787+5767A>G (n.787+5767A>G)
c.4194A>G (p.Gln1398=)
8g.54628055A>TCA370981483RP1c.4173A>T (p.Gln1391His)
c.787+5767A>T (n.787+5767A>T)
c.4194A>T (p.Gln1398His)
8g.54628056A>CCA370981486RP1c.4174A>C (p.Asn1392His)
c.787+5768A>C (n.787+5768A>C)
c.4195A>C (p.Asn1399His)
8g.54628056A>GCA370981488RP1c.4174A>G (p.Asn1392Asp)
c.787+5768A>G (n.787+5768A>G)
c.4195A>G (p.Asn1399Asp)
 COSMIC
8g.54628056A>TCA370981490RP1c.4174A>T (p.Asn1392Tyr)
c.787+5768A>T (n.787+5768A>T)
c.4195A>T (p.Asn1399Tyr)
8g.54628057A=CA1785189013RP1c.4175A= (p.Asn1392=)
c.787+5769A= (n.787+5769A=)
c.4196A= (p.Asn1399=)
8g.54628057A>CCA370981492RP1c.4175A>C (p.Asn1392Thr)
c.787+5769A>C (n.787+5769A>C)
c.4196A>C (p.Asn1399Thr)
8g.54628057A>GCA4751812RP1c.4175A>G (p.Asn1392Ser)
c.787+5769A>G (n.787+5769A>G)
c.4196A>G (p.Asn1399Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.54628057A>TCA370981497RP1c.4175A>T (p.Asn1392Ile)
c.787+5769A>T (n.787+5769A>T)
c.4196A>T (p.Asn1399Ile)
 dbSNP gnomAD v4
8g.54628058T>ACA370981499RP1c.4176T>A (p.Asn1392Lys)
c.787+5770T>A (n.787+5770T>A)
c.4197T>A (p.Asn1399Lys)
8g.54628058T>CCA461099789RP1c.4176T>C (p.Asn1392=)
c.787+5770T>C (n.787+5770T>C)
c.4197T>C (p.Asn1399=)
 dbSNP gnomAD v4 COSMIC
8g.54628058T>GCA370981502RP1c.4176T>G (p.Asn1392Lys)
c.787+5770T>G (n.787+5770T>G)
c.4197T>G (p.Asn1399Lys)
8g.54628058T=CA1785189014RP1c.4176T= (p.Asn1392=)
c.787+5770T= (n.787+5770T=)
c.4197T= (p.Asn1399=)
8g.54628059G>ACA370981505RP1c.4177G>A (p.Val1393Ile)
c.787+5771G>A (n.787+5771G>A)
c.4198G>A (p.Val1400Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54628059G>CCA370981506RP1c.4177G>C (p.Val1393Leu)
c.787+5771G>C (n.787+5771G>C)
c.4198G>C (p.Val1400Leu)
8g.54628059G=CA1785189015RP1c.4177G= (p.Val1393=)
c.787+5771G= (n.787+5771G=)
c.4198G= (p.Val1400=)
8g.54628059G>TCA370981507RP1c.4177G>T (p.Val1393Phe)
c.787+5771G>T (n.787+5771G>T)
c.4198G>T (p.Val1400Phe)
8g.54628060T>ACA370981512RP1c.4178T>A (p.Val1393Asp)
c.787+5772T>A (n.787+5772T>A)
c.4199T>A (p.Val1400Asp)
8g.54628060T>CCA4751813RP1c.4178T>C (p.Val1393Ala)
c.787+5772T>C (n.787+5772T>C)
c.4199T>C (p.Val1400Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628060T>GCA370981510RP1c.4178T>G (p.Val1393Gly)
c.787+5772T>G (n.787+5772T>G)
c.4199T>G (p.Val1400Gly)
8g.54628060T=CA1785189016RP1c.4178T= (p.Val1393=)
c.787+5772T= (n.787+5772T=)
c.4199T= (p.Val1400=)
8g.54628061C>ACA461099793RP1c.4179C>A (p.Val1393=)
c.787+5773C>A (n.787+5773C>A)
c.4200C>A (p.Val1400=)
8g.54628061C>GCA461099794RP1c.4179C>G (p.Val1393=)
c.787+5773C>G (n.787+5773C>G)
c.4200C>G (p.Val1400=)
 gnomAD v4
8g.54628061C>TCA461099795RP1c.4179C>T (p.Val1393=)
c.787+5773C>T (n.787+5773C>T)
c.4200C>T (p.Val1400=)
 gnomAD v4
8g.54628062A>CCA370981517RP1c.4180A>C (p.Ser1394Arg)
c.787+5774A>C (n.787+5774A>C)
c.4201A>C (p.Ser1401Arg)
 gnomAD v4
8g.54628062A>GCA370981519RP1c.4180A>G (p.Ser1394Gly)
c.787+5774A>G (n.787+5774A>G)
c.4201A>G (p.Ser1401Gly)
8g.54628062A>TCA370981521RP1c.4180A>T (p.Ser1394Cys)
c.787+5774A>T (n.787+5774A>T)
c.4201A>T (p.Ser1401Cys)
8g.54628063G>ACA370981523RP1c.4181G>A (p.Ser1394Asn)
c.787+5775G>A (n.787+5775G>A)
c.4202G>A (p.Ser1401Asn)
8g.54628063G>CCA370981526RP1c.4181G>C (p.Ser1394Thr)
c.787+5775G>C (n.787+5775G>C)
c.4202G>C (p.Ser1401Thr)
8g.54628063G>TCA370981532RP1c.4181G>T (p.Ser1394Ile)
c.787+5775G>T (n.787+5775G>T)
c.4202G>T (p.Ser1401Ile)
8g.54628064T>ACA370981535RP1c.4182T>A (p.Ser1394Arg)
c.787+5776T>A (n.787+5776T>A)
c.4203T>A (p.Ser1401Arg)
8g.54628064T>CCA461099801RP1c.4182T>C (p.Ser1394=)
c.787+5776T>C (n.787+5776T>C)
c.4203T>C (p.Ser1401=)
8g.54628064T>GCA370981537RP1c.4182T>G (p.Ser1394Arg)
c.787+5776T>G (n.787+5776T>G)
c.4203T>G (p.Ser1401Arg)
8g.54628065A>CCA370981539RP1c.4183A>C (p.Asn1395His)
c.787+5777A>C (n.787+5777A>C)
c.4204A>C (p.Asn1402His)
8g.54628065A>GCA370981542RP1c.4183A>G (p.Asn1395Asp)
c.787+5777A>G (n.787+5777A>G)
c.4204A>G (p.Asn1402Asp)
8g.54628065A>TCA370981544RP1c.4183A>T (p.Asn1395Tyr)
c.787+5777A>T (n.787+5777A>T)
c.4204A>T (p.Asn1402Tyr)
8g.54628066A=CA1785189017RP1c.4184A= (p.Asn1395=)
c.787+5778A= (n.787+5778A=)
c.4205A= (p.Asn1402=)
8g.54628066A>CCA370981547RP1c.4184A>C (p.Asn1395Thr)
c.787+5778A>C (n.787+5778A>C)
c.4205A>C (p.Asn1402Thr)
8g.54628066A>GCA370981549RP1c.4184A>G (p.Asn1395Ser)
c.787+5778A>G (n.787+5778A>G)
c.4205A>G (p.Asn1402Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.54628066A>TCA370981551RP1c.4184A>T (p.Asn1395Ile)
c.787+5778A>T (n.787+5778A>T)
c.4205A>T (p.Asn1402Ile)
8g.54628067T>ACA370981554RP1c.4185T>A (p.Asn1395Lys)
c.787+5779T>A (n.787+5779T>A)
c.4206T>A (p.Asn1402Lys)
8g.54628067T>CCA461099806RP1c.4185T>C (p.Asn1395=)
c.787+5779T>C (n.787+5779T>C)
c.4206T>C (p.Asn1402=)
8g.54628067T>GCA370981556RP1c.4185T>G (p.Asn1395Lys)
c.787+5779T>G (n.787+5779T>G)
c.4206T>G (p.Asn1402Lys)
 gnomAD v4
8g.54628068T>ACA370981558RP1c.4186T>A (p.Leu1396Ile)
c.787+5780T>A (n.787+5780T>A)
c.4207T>A (p.Leu1403Ile)
8g.54628068T>CCA461099807RP1c.4186T>C (p.Leu1396=)
c.787+5780T>C (n.787+5780T>C)
c.4207T>C (p.Leu1403=)
8g.54628068T>GCA370981560RP1c.4186T>G (p.Leu1396Val)
c.787+5780T>G (n.787+5780T>G)
c.4207T>G (p.Leu1403Val)
 gnomAD v4 COSMIC
8g.54628069T>ACA370981562RP1c.4187T>A (p.Leu1396Ter)
c.787+5781T>A (n.787+5781T>A)
c.4208T>A (p.Leu1403Ter)
8g.54628069T>CCA370981564RP1c.4187T>C (p.Leu1396Ser)
c.787+5781T>C (n.787+5781T>C)
c.4208T>C (p.Leu1403Ser)
8g.54628069T>GCA370981566RP1c.4187T>G (p.Leu1396Ter)
c.787+5781T>G (n.787+5781T>G)
c.4208T>G (p.Leu1403Ter)
8g.54628070A=CA1785189018RP1c.4188A= (p.Leu1396=)
c.787+5782A= (n.787+5782A=)
c.4209A= (p.Leu1403=)
8g.54628070A>CCA370981567RP1c.4188A>C (p.Leu1396Phe)
c.787+5782A>C (n.787+5782A>C)
c.4209A>C (p.Leu1403Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.54628070A>GCA461099810RP1c.4188A>G (p.Leu1396=)
c.787+5782A>G (n.787+5782A>G)
c.4209A>G (p.Leu1403=)
8g.54628070A>TCA370981568RP1c.4188A>T (p.Leu1396Phe)
c.787+5782A>T (n.787+5782A>T)
c.4209A>T (p.Leu1403Phe)
 gnomAD v4
8g.54628071A>CCA370981571RP1c.4189A>C (p.Ser1397Arg)
c.787+5783A>C (n.787+5783A>C)
c.4210A>C (p.Ser1404Arg)
8g.54628071A>GCA370981573RP1c.4189A>G (p.Ser1397Gly)
c.787+5783A>G (n.787+5783A>G)
c.4210A>G (p.Ser1404Gly)
8g.54628071A>TCA370981576RP1c.4189A>T (p.Ser1397Cys)
c.787+5783A>T (n.787+5783A>T)
c.4210A>T (p.Ser1404Cys)
8g.54628072G>ACA370981578RP1c.4190G>A (p.Ser1397Asn)
c.787+5784G>A (n.787+5784G>A)
c.4211G>A (p.Ser1404Asn)
8g.54628072G>CCA370981580RP1c.4190G>C (p.Ser1397Thr)
c.787+5784G>C (n.787+5784G>C)
c.4211G>C (p.Ser1404Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.54628072G=CA1785189019RP1c.4190G= (p.Ser1397=)
c.787+5784G= (n.787+5784G=)
c.4211G= (p.Ser1404=)
8g.54628072G>TCA370981582RP1c.4190G>T (p.Ser1397Ile)
c.787+5784G>T (n.787+5784G>T)
c.4211G>T (p.Ser1404Ile)
8g.54628073C>ACA370981587RP1c.4191C>A (p.Ser1397Arg)
c.787+5785C>A (n.787+5785C>A)
c.4212C>A (p.Ser1404Arg)
8g.54628073C>GCA370981585RP1c.4191C>G (p.Ser1397Arg)
c.787+5785C>G (n.787+5785C>G)
c.4212C>G (p.Ser1404Arg)
8g.54628073C>TCA461099817RP1c.4191C>T (p.Ser1397=)
c.787+5785C>T (n.787+5785C>T)
c.4212C>T (p.Ser1404=)
8g.54628074T>ACA370981591RP1c.4192T>A (p.Ser1398Thr)
c.787+5786T>A (n.787+5786T>A)
c.4213T>A (p.Ser1405Thr)
8g.54628074T>CCA370981593RP1c.4192T>C (p.Ser1398Pro)
c.787+5786T>C (n.787+5786T>C)
c.4213T>C (p.Ser1405Pro)
8g.54628074T>GCA370981596RP1c.4192T>G (p.Ser1398Ala)
c.787+5786T>G (n.787+5786T>G)
c.4213T>G (p.Ser1405Ala)
8g.54628075C>ACA370981599RP1c.4193C>A (p.Ser1398Tyr)
c.787+5787C>A (n.787+5787C>A)
c.4214C>A (p.Ser1405Tyr)
8g.54628075C=CA1785189020RP1c.4193C= (p.Ser1398=)
c.787+5787C= (n.787+5787C=)
c.4214C= (p.Ser1405=)
8g.54628075C>GCA4751814RP1c.4193C>G (p.Ser1398Cys)
c.787+5787C>G (n.787+5787C>G)
c.4214C>G (p.Ser1405Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628075C>TCA370981601RP1c.4193C>T (p.Ser1398Phe)
c.787+5787C>T (n.787+5787C>T)
c.4214C>T (p.Ser1405Phe)
 COSMIC
8g.54628076C>ACA461099823RP1c.4194C>A (p.Ser1398=)
c.787+5788C>A (n.787+5788C>A)
c.4215C>A (p.Ser1405=)
8g.54628076C=CA1785189021RP1c.4194C= (p.Ser1398=)
c.787+5788C= (n.787+5788C=)
c.4215C= (p.Ser1405=)
8g.54628076C>GCA4751815RP1c.4194C>G (p.Ser1398=)
c.787+5788C>G (n.787+5788C>G)
c.4215C>G (p.Ser1405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628076C>TCA461099824RP1c.4194C>T (p.Ser1398=)
c.787+5788C>T (n.787+5788C>T)
c.4215C>T (p.Ser1405=)
 dbSNP gnomAD v3 gnomAD v4
8g.54628077T>ACA370981605RP1c.4195T>A (p.Cys1399Ser)
c.787+5789T>A (n.787+5789T>A)
c.4216T>A (p.Cys1406Ser)
8g.54628077T>CCA177181411RP1c.4195T>C (p.Cys1399Arg)
c.787+5789T>C (n.787+5789T>C)
c.4216T>C (p.Cys1406Arg)
 dbSNP gnomAD v4
8g.54628077T>GCA370981608RP1c.4195T>G (p.Cys1399Gly)
c.787+5789T>G (n.787+5789T>G)
c.4216T>G (p.Cys1406Gly)
8g.54628077T=CA1785189022RP1c.4195T= (p.Cys1399=)
c.787+5789T= (n.787+5789T=)
c.4216T= (p.Cys1406=)
8g.54628077_54628078delinsTGCA1785189023RP1c.4195_4196delinsTG (p.Cys1399=)
c.787+5789_787+5790delinsTG (n.787+5789_787+5790delinsTG)
c.4216_4217delinsTG (p.Cys1406=)
8g.54628078delCA4751816RP1c.4196del (p.Cys1399LeufsTer5)
c.787+5790del (n.787+5790del)
c.4217del (p.Cys1406LeufsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628078G>ACA370981611RP1c.4196G>A (p.Cys1399Tyr)
c.787+5790G>A (n.787+5790G>A)
c.4217G>A (p.Cys1406Tyr)
8g.54628078G>CCA370981614RP1c.4196G>C (p.Cys1399Ser)
c.787+5790G>C (n.787+5790G>C)
c.4217G>C (p.Cys1406Ser)
8g.54628078G>TCA370981616RP1c.4196G>T (p.Cys1399Phe)
c.787+5790G>T (n.787+5790G>T)
c.4217G>T (p.Cys1406Phe)
8g.54628079T>ACA370981621RP1c.4197T>A (p.Cys1399Ter)
c.787+5791T>A (n.787+5791T>A)
c.4218T>A (p.Cys1406Ter)
8g.54628079T>CCA461099829RP1c.4197T>C (p.Cys1399=)
c.787+5791T>C (n.787+5791T>C)
c.4218T>C (p.Cys1406=)
8g.54628079T>GCA370981623RP1c.4197T>G (p.Cys1399Trp)
c.787+5791T>G (n.787+5791T>G)
c.4218T>G (p.Cys1406Trp)
8g.54628080G>ACA370981627RP1c.4198G>A (p.Gly1400Ser)
c.787+5792G>A (n.787+5792G>A)
c.4219G>A (p.Gly1407Ser)
8g.54628080G>CCA370981630RP1c.4198G>C (p.Gly1400Arg)
c.787+5792G>C (n.787+5792G>C)
c.4219G>C (p.Gly1407Arg)
8g.54628080G>TCA370981628RP1c.4198G>T (p.Gly1400Cys)
c.787+5792G>T (n.787+5792G>T)
c.4219G>T (p.Gly1407Cys)
8g.54628081G>ACA4751817RP1c.4199G>A (p.Gly1400Asp)
c.787+5793G>A (n.787+5793G>A)
c.4220G>A (p.Gly1407Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628081G>CCA370981638RP1c.4199G>C (p.Gly1400Ala)
c.787+5793G>C (n.787+5793G>C)
c.4220G>C (p.Gly1407Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.54628081G=CA1785189024RP1c.4199G= (p.Gly1400=)
c.787+5793G= (n.787+5793G=)
c.4220G= (p.Gly1407=)
8g.54628081G>TCA370981635RP1c.4199G>T (p.Gly1400Val)
c.787+5793G>T (n.787+5793G>T)
c.4220G>T (p.Gly1407Val)
8g.54628082C>ACA461099834RP1c.4200C>A (p.Gly1400=)
c.787+5794C>A (n.787+5794C>A)
c.4221C>A (p.Gly1407=)
 dbSNP gnomAD v3 gnomAD v4
8g.54628082C=CA1785189025RP1c.4200C= (p.Gly1400=)
c.787+5794C= (n.787+5794C=)
c.4221C= (p.Gly1407=)
8g.54628082C>GCA461099835RP1c.4200C>G (p.Gly1400=)
c.787+5794C>G (n.787+5794C>G)
c.4221C>G (p.Gly1407=)
 dbSNP gnomAD v4
8g.54628082C>TCA4751818RP1c.4200C>T (p.Gly1400=)
c.787+5794C>T (n.787+5794C>T)
c.4221C>T (p.Gly1407=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628083C>ACA370981642RP1c.4201C>A (p.Leu1401Ile)
c.787+5795C>A (n.787+5795C>A)
c.4222C>A (p.Leu1408Ile)
 gnomAD v4 COSMIC
8g.54628083C>GCA370981645RP1c.4201C>G (p.Leu1401Val)
c.787+5795C>G (n.787+5795C>G)
c.4222C>G (p.Leu1408Val)
8g.54628083C>TCA370981647RP1c.4201C>T (p.Leu1401Phe)
c.787+5795C>T (n.787+5795C>T)
c.4222C>T (p.Leu1408Phe)
 COSMIC
8g.54628084T>ACA370981651RP1c.4202T>A (p.Leu1401His)
c.787+5796T>A (n.787+5796T>A)
c.4223T>A (p.Leu1408His)
8g.54628084T>CCA370981652RP1c.4202T>C (p.Leu1401Pro)
c.787+5796T>C (n.787+5796T>C)
c.4223T>C (p.Leu1408Pro)
8g.54628084T>GCA370981655RP1c.4202T>G (p.Leu1401Arg)
c.787+5796T>G (n.787+5796T>G)
c.4223T>G (p.Leu1408Arg)
8g.54628085T>ACA461099842RP1c.4203T>A (p.Leu1401=)
c.787+5797T>A (n.787+5797T>A)
c.4224T>A (p.Leu1408=)
8g.54628085T>CCA461099843RP1c.4203T>C (p.Leu1401=)
c.787+5797T>C (n.787+5797T>C)
c.4224T>C (p.Leu1408=)
8g.54628085T>GCA461099845RP1c.4203T>G (p.Leu1401=)
c.787+5797T>G (n.787+5797T>G)
c.4224T>G (p.Leu1408=)
8g.54628086T>ACA370981658RP1c.4204T>A (p.Cys1402Ser)
c.787+5798T>A (n.787+5798T>A)
c.4225T>A (p.Cys1409Ser)
8g.54628086T>CCA370981661RP1c.4204T>C (p.Cys1402Arg)
c.787+5798T>C (n.787+5798T>C)
c.4225T>C (p.Cys1409Arg)
8g.54628086T>GCA370981663RP1c.4204T>G (p.Cys1402Gly)
c.787+5798T>G (n.787+5798T>G)
c.4225T>G (p.Cys1409Gly)
8g.54628087G>ACA370981666RP1c.4205G>A (p.Cys1402Tyr)
c.787+5799G>A (n.787+5799G>A)
c.4226G>A (p.Cys1409Tyr)
 dbSNP gnomAD v3 gnomAD v4
8g.54628087G>CCA370981669RP1c.4205G>C (p.Cys1402Ser)
c.787+5799G>C (n.787+5799G>C)
c.4226G>C (p.Cys1409Ser)
8g.54628087G=CA1785189026RP1c.4205G= (p.Cys1402=)
c.787+5799G= (n.787+5799G=)
c.4226G= (p.Cys1409=)
8g.54628087G>TCA4751819RP1c.4205G>T (p.Cys1402Phe)
c.787+5799G>T (n.787+5799G>T)
c.4226G>T (p.Cys1409Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628088C>ACA370981674RP1c.4206C>A (p.Cys1402Ter)
c.787+5800C>A (n.787+5800C>A)
c.4227C>A (p.Cys1409Ter)
8g.54628088C>GCA370981675RP1c.4206C>G (p.Cys1402Trp)
c.787+5800C>G (n.787+5800C>G)
c.4227C>G (p.Cys1409Trp)
8g.54628088C>TCA461099849RP1c.4206C>T (p.Cys1402=)
c.787+5800C>T (n.787+5800C>T)
c.4227C>T (p.Cys1409=)
8g.54628089C>ACA370981679RP1c.4207C>A (p.Leu1403Ile)
c.787+5801C>A (n.787+5801C>A)
c.4228C>A (p.Leu1410Ile)
8g.54628089C=CA1785189027RP1c.4207C= (p.Leu1403=)
c.787+5801C= (n.787+5801C=)
c.4228C= (p.Leu1410=)
8g.54628089C>GCA370981681RP1c.4207C>G (p.Leu1403Val)
c.787+5801C>G (n.787+5801C>G)
c.4228C>G (p.Leu1410Val)
8g.54628089C>TCA461099852RP1c.4207C>T (p.Leu1403=)
c.787+5801C>T (n.787+5801C>T)
c.4228C>T (p.Leu1410=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54628090T>ACA370981684RP1c.4208T>A (p.Leu1403Gln)
c.787+5802T>A (n.787+5802T>A)
c.4229T>A (p.Leu1410Gln)
8g.54628090T>CCA370981686RP1c.4208T>C (p.Leu1403Pro)
c.787+5802T>C (n.787+5802T>C)
c.4229T>C (p.Leu1410Pro)
8g.54628090T>GCA370981688RP1c.4208T>G (p.Leu1403Arg)
c.787+5802T>G (n.787+5802T>G)
c.4229T>G (p.Leu1410Arg)
8g.54628091A>CCA461099854RP1c.4209A>C (p.Leu1403=)
c.787+5803A>C (n.787+5803A>C)
c.4230A>C (p.Leu1410=)
8g.54628091A>GCA461099855RP1c.4209A>G (p.Leu1403=)
c.787+5803A>G (n.787+5803A>G)
c.4230A>G (p.Leu1410=)
8g.54628091A>TCA461099856RP1c.4209A>T (p.Leu1403=)
c.787+5803A>T (n.787+5803A>T)
c.4230A>T (p.Leu1410=)
8g.54628092A>CCA370981691RP1c.4210A>C (p.Ser1404Arg)
c.787+5804A>C (n.787+5804A>C)
c.4231A>C (p.Ser1411Arg)
 gnomAD v4
8g.54628092A>GCA370981694RP1c.4210A>G (p.Ser1404Gly)
c.787+5804A>G (n.787+5804A>G)
c.4231A>G (p.Ser1411Gly)
8g.54628092A>TCA370981695RP1c.4210A>T (p.Ser1404Cys)
c.787+5804A>T (n.787+5804A>T)
c.4231A>T (p.Ser1411Cys)
 COSMIC
8g.54628093G>ACA370981696RP1c.4211G>A (p.Ser1404Asn)
c.787+5805G>A (n.787+5805G>A)
c.4232G>A (p.Ser1411Asn)
 dbSNP
8g.54628093G>CCA370981697RP1c.4211G>C (p.Ser1404Thr)
c.787+5805G>C (n.787+5805G>C)
c.4232G>C (p.Ser1411Thr)
8g.54628093G=CA1785189028RP1c.4211G= (p.Ser1404=)
c.787+5805G= (n.787+5805G=)
c.4232G= (p.Ser1411=)
8g.54628093G>TCA370981698RP1c.4211G>T (p.Ser1404Ile)
c.787+5805G>T (n.787+5805G>T)
c.4232G>T (p.Ser1411Ile)
8g.54628093_54628094delinsGTCA1785189029RP1c.4211_4212delinsGT (p.Ser1404=)
c.787+5805_787+5806delinsGT (n.787+5805_787+5806delinsGT)
c.4232_4233delinsGT (p.Ser1411=)
8g.54628094delCA1785189030RP1c.4212del (p.Ser1404ArgfsTer14)
c.787+5806del (n.787+5806del)
c.4233del (p.Ser1411ArgfsTer14)
 ClinVar dbSNP gnomAD v4
8g.54628094T>ACA370981699RP1c.4212T>A (p.Ser1404Arg)
c.787+5806T>A (n.787+5806T>A)
c.4233T>A (p.Ser1411Arg)
8g.54628094T>CCA461099858RP1c.4212T>C (p.Ser1404=)
c.787+5806T>C (n.787+5806T>C)
c.4233T>C (p.Ser1411=)
8g.54628094T>GCA370981700RP1c.4212T>G (p.Ser1404Arg)
c.787+5806T>G (n.787+5806T>G)
c.4233T>G (p.Ser1411Arg)
8g.54628095G>ACA177181438RP1c.4213G>A (p.Glu1405Lys)
c.787+5807G>A (n.787+5807G>A)
c.4234G>A (p.Glu1412Lys)
 dbSNP COSMIC
8g.54628095G>CCA370981701RP1c.4213G>C (p.Glu1405Gln)
c.787+5807G>C (n.787+5807G>C)
c.4234G>C (p.Glu1412Gln)
8g.54628095G=CA1785189031RP1c.4213G= (p.Glu1405=)
c.787+5807G= (n.787+5807G=)
c.4234G= (p.Glu1412=)
8g.54628095G>TCA370981702RP1c.4213G>T (p.Glu1405Ter)
c.787+5807G>T (n.787+5807G>T)
c.4234G>T (p.Glu1412Ter)
 gnomAD v4 COSMIC
8g.54628096A=CA1785189032RP1c.4214A= (p.Glu1405=)
c.787+5808A= (n.787+5808A=)
c.4235A= (p.Glu1412=)
8g.54628096A>CCA370981703RP1c.4214A>C (p.Glu1405Ala)
c.787+5808A>C (n.787+5808A>C)
c.4235A>C (p.Glu1412Ala)
8g.54628096A>GCA370981704RP1c.4214A>G (p.Glu1405Gly)
c.787+5808A>G (n.787+5808A>G)
c.4235A>G (p.Glu1412Gly)
 dbSNP
8g.54628096A>TCA370981705RP1c.4214A>T (p.Glu1405Val)
c.787+5808A>T (n.787+5808A>T)
c.4235A>T (p.Glu1412Val)
8g.54628097A>CCA370981706RP1c.4215A>C (p.Glu1405Asp)
c.787+5809A>C (n.787+5809A>C)
c.4236A>C (p.Glu1412Asp)
8g.54628097A>GCA461099868RP1c.4215A>G (p.Glu1405=)
c.787+5809A>G (n.787+5809A>G)
c.4236A>G (p.Glu1412=)
8g.54628097A>TCA370981707RP1c.4215A>T (p.Glu1405Asp)
c.787+5809A>T (n.787+5809A>T)
c.4236A>T (p.Glu1412Asp)
8g.54628097_54628101delinsAAAAGCA1785189033RP1c.4215_4219delinsAAAAG (p.Glu1405=)
c.787+5809_787+5813delinsAAAAG (n.787+5809_787+5813delinsAAAAG)
c.4236_4240delinsAAAAG (p.Glu1412=)
8g.54628098A=CA1785189034RP1c.4216A= (p.Lys1406=)
c.787+5810A= (n.787+5810A=)
c.4237A= (p.Lys1413=)
8g.54628098A>CCA370981708RP1c.4216A>C (p.Lys1406Gln)
c.787+5810A>C (n.787+5810A>C)
c.4237A>C (p.Lys1413Gln)
 dbSNP gnomAD v4
8g.54628098A>GCA4751820RP1c.4216A>G (p.Lys1406Glu)
c.787+5810A>G (n.787+5810A>G)
c.4237A>G (p.Lys1413Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628098A>TCA370981709RP1c.4216A>T (p.Lys1406Ter)
c.787+5810A>T (n.787+5810A>T)
c.4237A>T (p.Lys1413Ter)
8g.54628100_54628103delCA1139660542RP1c.4218_4221del (p.Glu1407GlnfsTer10)
c.787+5812_787+5815del (n.787+5812_787+5815del)
c.4239_4242del (p.Glu1414GlnfsTer10)
 ClinVar dbSNP
8g.54628099A>CCA370981710RP1c.4217A>C (p.Lys1406Thr)
c.787+5811A>C (n.787+5811A>C)
c.4238A>C (p.Lys1413Thr)
8g.54628099A>GCA370981711RP1c.4217A>G (p.Lys1406Arg)
c.787+5811A>G (n.787+5811A>G)
c.4238A>G (p.Lys1413Arg)
8g.54628099A>TCA370981712RP1c.4217A>T (p.Lys1406Ile)
c.787+5811A>T (n.787+5811A>T)
c.4238A>T (p.Lys1413Ile)
8g.54628100A>CCA370981713RP1c.4218A>C (p.Lys1406Asn)
c.787+5812A>C (n.787+5812A>C)
c.4239A>C (p.Lys1413Asn)
 gnomAD v4
8g.54628100A>GCA461099877RP1c.4218A>G (p.Lys1406=)
c.787+5812A>G (n.787+5812A>G)
c.4239A>G (p.Lys1413=)
 COSMIC
8g.54628100A>TCA370981714RP1c.4218A>T (p.Lys1406Asn)
c.787+5812A>T (n.787+5812A>T)
c.4239A>T (p.Lys1413Asn)
8g.54628101G>ACA370981715RP1c.4219G>A (p.Glu1407Lys)
c.787+5813G>A (n.787+5813G>A)
c.4240G>A (p.Glu1414Lys)
8g.54628101G>CCA370981716RP1c.4219G>C (p.Glu1407Gln)
c.787+5813G>C (n.787+5813G>C)
c.4240G>C (p.Glu1414Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.54628101G=CA1785189035RP1c.4219G= (p.Glu1407=)
c.787+5813G= (n.787+5813G=)
c.4240G= (p.Glu1414=)
8g.54628101G>TCA370981717RP1c.4219G>T (p.Glu1407Ter)
c.787+5813G>T (n.787+5813G>T)
c.4240G>T (p.Glu1414Ter)
 COSMIC

Number of alleles fetched