Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178630318T>ACA349645565TTNc.36500A>T (p.Asn12167Ile)
c.17585A>T (p.Asn5862Ile)
c.17384A>T (p.Asn5795Ile)
c.17009A>T (p.Asn5670Ile)
c.44204A>T (p.Asn14735Ile)
c.39281A>T (p.Asn13094Ile)
c.43301A>T (p.Asn14434Ile)
c.17195A>T (p.Asn5732Ile)
c.17054A>T (p.Asn5685Ile)
c.43097A>T (p.Asn14366Ile)
c.38495A>T (p.Asn12832Ile)
c.38492A>T (p.Asn12831Ile)
c.35534A>T (p.Asn11845Ile)
c.17150A>T (p.Asn5717Ile)
c.38645A>T (p.Asn12882Ile)
c.38642A>T (p.Asn12881Ile)
c.38075A>T (p.Asn12692Ile)
c.35417A>T (p.Asn11806Ile)
c.35336A>T (p.Asn11779Ile)
c.17099A>T (p.Asn5700Ile)
c.6953A>T (p.Asn2318Ile)
2g.178630318T>CCA309823TTNc.36500A>G (p.Asn12167Ser)
c.17585A>G (p.Asn5862Ser)
c.17384A>G (p.Asn5795Ser)
c.17009A>G (p.Asn5670Ser)
c.44204A>G (p.Asn14735Ser)
c.39281A>G (p.Asn13094Ser)
c.43301A>G (p.Asn14434Ser)
c.17195A>G (p.Asn5732Ser)
c.17054A>G (p.Asn5685Ser)
c.43097A>G (p.Asn14366Ser)
c.38495A>G (p.Asn12832Ser)
c.38492A>G (p.Asn12831Ser)
c.35534A>G (p.Asn11845Ser)
c.17150A>G (p.Asn5717Ser)
c.38645A>G (p.Asn12882Ser)
c.38642A>G (p.Asn12881Ser)
c.38075A>G (p.Asn12692Ser)
c.35417A>G (p.Asn11806Ser)
c.35336A>G (p.Asn11779Ser)
c.17099A>G (p.Asn5700Ser)
c.6953A>G (p.Asn2318Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178630318T>GCA349645576TTNc.36500A>C (p.Asn12167Thr)
c.17585A>C (p.Asn5862Thr)
c.17384A>C (p.Asn5795Thr)
c.17009A>C (p.Asn5670Thr)
c.44204A>C (p.Asn14735Thr)
c.39281A>C (p.Asn13094Thr)
c.43301A>C (p.Asn14434Thr)
c.17195A>C (p.Asn5732Thr)
c.17054A>C (p.Asn5685Thr)
c.43097A>C (p.Asn14366Thr)
c.38495A>C (p.Asn12832Thr)
c.38492A>C (p.Asn12831Thr)
c.35534A>C (p.Asn11845Thr)
c.17150A>C (p.Asn5717Thr)
c.38645A>C (p.Asn12882Thr)
c.38642A>C (p.Asn12881Thr)
c.38075A>C (p.Asn12692Thr)
c.35417A>C (p.Asn11806Thr)
c.35336A>C (p.Asn11779Thr)
c.17099A>C (p.Asn5700Thr)
c.6953A>C (p.Asn2318Thr)
2g.178630318T=CA1310555927TTNc.36500A= (p.Asn12167=)
c.17585A= (p.Asn5862=)
c.17384A= (p.Asn5795=)
c.17009A= (p.Asn5670=)
c.44204A= (p.Asn14735=)
c.39281A= (p.Asn13094=)
c.43301A= (p.Asn14434=)
c.17195A= (p.Asn5732=)
c.17054A= (p.Asn5685=)
c.43097A= (p.Asn14366=)
c.38495A= (p.Asn12832=)
c.38492A= (p.Asn12831=)
c.35534A= (p.Asn11845=)
c.17150A= (p.Asn5717=)
c.38645A= (p.Asn12882=)
c.38642A= (p.Asn12881=)
c.38075A= (p.Asn12692=)
c.35417A= (p.Asn11806=)
c.35336A= (p.Asn11779=)
c.17099A= (p.Asn5700=)
c.6953A= (p.Asn2318=)
2g.178630319T>ACA349645578TTNc.36499A>T (p.Asn12167Tyr)
c.17584A>T (p.Asn5862Tyr)
c.17383A>T (p.Asn5795Tyr)
c.17008A>T (p.Asn5670Tyr)
c.44203A>T (p.Asn14735Tyr)
c.39280A>T (p.Asn13094Tyr)
c.43300A>T (p.Asn14434Tyr)
c.17194A>T (p.Asn5732Tyr)
c.17053A>T (p.Asn5685Tyr)
c.43096A>T (p.Asn14366Tyr)
c.38494A>T (p.Asn12832Tyr)
c.38491A>T (p.Asn12831Tyr)
c.35533A>T (p.Asn11845Tyr)
c.17149A>T (p.Asn5717Tyr)
c.38644A>T (p.Asn12882Tyr)
c.38641A>T (p.Asn12881Tyr)
c.38074A>T (p.Asn12692Tyr)
c.35416A>T (p.Asn11806Tyr)
c.35335A>T (p.Asn11779Tyr)
c.17098A>T (p.Asn5700Tyr)
c.6952A>T (p.Asn2318Tyr)
2g.178630319T>CCA349645579TTNc.36499A>G (p.Asn12167Asp)
c.17584A>G (p.Asn5862Asp)
c.17383A>G (p.Asn5795Asp)
c.17008A>G (p.Asn5670Asp)
c.44203A>G (p.Asn14735Asp)
c.39280A>G (p.Asn13094Asp)
c.43300A>G (p.Asn14434Asp)
c.17194A>G (p.Asn5732Asp)
c.17053A>G (p.Asn5685Asp)
c.43096A>G (p.Asn14366Asp)
c.38494A>G (p.Asn12832Asp)
c.38491A>G (p.Asn12831Asp)
c.35533A>G (p.Asn11845Asp)
c.17149A>G (p.Asn5717Asp)
c.38644A>G (p.Asn12882Asp)
c.38641A>G (p.Asn12881Asp)
c.38074A>G (p.Asn12692Asp)
c.35416A>G (p.Asn11806Asp)
c.35335A>G (p.Asn11779Asp)
c.17098A>G (p.Asn5700Asp)
c.6952A>G (p.Asn2318Asp)
 gnomAD v4
2g.178630319T>GCA349645580TTNc.36499A>C (p.Asn12167His)
c.17584A>C (p.Asn5862His)
c.17383A>C (p.Asn5795His)
c.17008A>C (p.Asn5670His)
c.44203A>C (p.Asn14735His)
c.39280A>C (p.Asn13094His)
c.43300A>C (p.Asn14434His)
c.17194A>C (p.Asn5732His)
c.17053A>C (p.Asn5685His)
c.43096A>C (p.Asn14366His)
c.38494A>C (p.Asn12832His)
c.38491A>C (p.Asn12831His)
c.35533A>C (p.Asn11845His)
c.17149A>C (p.Asn5717His)
c.38644A>C (p.Asn12882His)
c.38641A>C (p.Asn12881His)
c.38074A>C (p.Asn12692His)
c.35416A>C (p.Asn11806His)
c.35335A>C (p.Asn11779His)
c.17098A>C (p.Asn5700His)
c.6952A>C (p.Asn2318His)
2g.178630320G>ACA430113548TTNc.36498C>T (p.His12166=)
c.17583C>T (p.His5861=)
c.17382C>T (p.His5794=)
c.17007C>T (p.His5669=)
c.44202C>T (p.His14734=)
c.39279C>T (p.His13093=)
c.43299C>T (p.His14433=)
c.17193C>T (p.His5731=)
c.17052C>T (p.His5684=)
c.43095C>T (p.His14365=)
c.38493C>T (p.His12831=)
c.38490C>T (p.His12830=)
c.35532C>T (p.His11844=)
c.17148C>T (p.His5716=)
c.38643C>T (p.His12881=)
c.38640C>T (p.His12880=)
c.38073C>T (p.His12691=)
c.35415C>T (p.His11805=)
c.35334C>T (p.His11778=)
c.17097C>T (p.His5699=)
c.6951C>T (p.His2317=)
 dbSNP gnomAD v4
2g.178630320G>CCA349645584TTNc.36498C>G (p.His12166Gln)
c.17583C>G (p.His5861Gln)
c.17382C>G (p.His5794Gln)
c.17007C>G (p.His5669Gln)
c.44202C>G (p.His14734Gln)
c.39279C>G (p.His13093Gln)
c.43299C>G (p.His14433Gln)
c.17193C>G (p.His5731Gln)
c.17052C>G (p.His5684Gln)
c.43095C>G (p.His14365Gln)
c.38493C>G (p.His12831Gln)
c.38490C>G (p.His12830Gln)
c.35532C>G (p.His11844Gln)
c.17148C>G (p.His5716Gln)
c.38643C>G (p.His12881Gln)
c.38640C>G (p.His12880Gln)
c.38073C>G (p.His12691Gln)
c.35415C>G (p.His11805Gln)
c.35334C>G (p.His11778Gln)
c.17097C>G (p.His5699Gln)
c.6951C>G (p.His2317Gln)
2g.178630320G=CA1310555928TTNc.36498C= (p.His12166=)
c.17583C= (p.His5861=)
c.17382C= (p.His5794=)
c.17007C= (p.His5669=)
c.44202C= (p.His14734=)
c.39279C= (p.His13093=)
c.43299C= (p.His14433=)
c.17193C= (p.His5731=)
c.17052C= (p.His5684=)
c.43095C= (p.His14365=)
c.38493C= (p.His12831=)
c.38490C= (p.His12830=)
c.35532C= (p.His11844=)
c.17148C= (p.His5716=)
c.38643C= (p.His12881=)
c.38640C= (p.His12880=)
c.38073C= (p.His12691=)
c.35415C= (p.His11805=)
c.35334C= (p.His11778=)
c.17097C= (p.His5699=)
c.6951C= (p.His2317=)
2g.178630320G>TCA349645585TTNc.36498C>A (p.His12166Gln)
c.17583C>A (p.His5861Gln)
c.17382C>A (p.His5794Gln)
c.17007C>A (p.His5669Gln)
c.44202C>A (p.His14734Gln)
c.39279C>A (p.His13093Gln)
c.43299C>A (p.His14433Gln)
c.17193C>A (p.His5731Gln)
c.17052C>A (p.His5684Gln)
c.43095C>A (p.His14365Gln)
c.38493C>A (p.His12831Gln)
c.38490C>A (p.His12830Gln)
c.35532C>A (p.His11844Gln)
c.17148C>A (p.His5716Gln)
c.38643C>A (p.His12881Gln)
c.38640C>A (p.His12880Gln)
c.38073C>A (p.His12691Gln)
c.35415C>A (p.His11805Gln)
c.35334C>A (p.His11778Gln)
c.17097C>A (p.His5699Gln)
c.6951C>A (p.His2317Gln)
2g.178630321T>ACA349645588TTNc.36497A>T (p.His12166Leu)
c.17582A>T (p.His5861Leu)
c.17381A>T (p.His5794Leu)
c.17006A>T (p.His5669Leu)
c.44201A>T (p.His14734Leu)
c.39278A>T (p.His13093Leu)
c.43298A>T (p.His14433Leu)
c.17192A>T (p.His5731Leu)
c.17051A>T (p.His5684Leu)
c.43094A>T (p.His14365Leu)
c.38492A>T (p.His12831Leu)
c.38489A>T (p.His12830Leu)
c.35531A>T (p.His11844Leu)
c.17147A>T (p.His5716Leu)
c.38642A>T (p.His12881Leu)
c.38639A>T (p.His12880Leu)
c.38072A>T (p.His12691Leu)
c.35414A>T (p.His11805Leu)
c.35333A>T (p.His11778Leu)
c.17096A>T (p.His5699Leu)
c.6950A>T (p.His2317Leu)
2g.178630321T>CCA349645590TTNc.36497A>G (p.His12166Arg)
c.17582A>G (p.His5861Arg)
c.17381A>G (p.His5794Arg)
c.17006A>G (p.His5669Arg)
c.44201A>G (p.His14734Arg)
c.39278A>G (p.His13093Arg)
c.43298A>G (p.His14433Arg)
c.17192A>G (p.His5731Arg)
c.17051A>G (p.His5684Arg)
c.43094A>G (p.His14365Arg)
c.38492A>G (p.His12831Arg)
c.38489A>G (p.His12830Arg)
c.35531A>G (p.His11844Arg)
c.17147A>G (p.His5716Arg)
c.38642A>G (p.His12881Arg)
c.38639A>G (p.His12880Arg)
c.38072A>G (p.His12691Arg)
c.35414A>G (p.His11805Arg)
c.35333A>G (p.His11778Arg)
c.17096A>G (p.His5699Arg)
c.6950A>G (p.His2317Arg)
2g.178630321T>GCA349645592TTNc.36497A>C (p.His12166Pro)
c.17582A>C (p.His5861Pro)
c.17381A>C (p.His5794Pro)
c.17006A>C (p.His5669Pro)
c.44201A>C (p.His14734Pro)
c.39278A>C (p.His13093Pro)
c.43298A>C (p.His14433Pro)
c.17192A>C (p.His5731Pro)
c.17051A>C (p.His5684Pro)
c.43094A>C (p.His14365Pro)
c.38492A>C (p.His12831Pro)
c.38489A>C (p.His12830Pro)
c.35531A>C (p.His11844Pro)
c.17147A>C (p.His5716Pro)
c.38642A>C (p.His12881Pro)
c.38639A>C (p.His12880Pro)
c.38072A>C (p.His12691Pro)
c.35414A>C (p.His11805Pro)
c.35333A>C (p.His11778Pro)
c.17096A>C (p.His5699Pro)
c.6950A>C (p.His2317Pro)
2g.178630322G>ACA349645595TTNc.36496C>T (p.His12166Tyr)
c.17581C>T (p.His5861Tyr)
c.17380C>T (p.His5794Tyr)
c.17005C>T (p.His5669Tyr)
c.44200C>T (p.His14734Tyr)
c.39277C>T (p.His13093Tyr)
c.43297C>T (p.His14433Tyr)
c.17191C>T (p.His5731Tyr)
c.17050C>T (p.His5684Tyr)
c.43093C>T (p.His14365Tyr)
c.38491C>T (p.His12831Tyr)
c.38488C>T (p.His12830Tyr)
c.35530C>T (p.His11844Tyr)
c.17146C>T (p.His5716Tyr)
c.38641C>T (p.His12881Tyr)
c.38638C>T (p.His12880Tyr)
c.38071C>T (p.His12691Tyr)
c.35413C>T (p.His11805Tyr)
c.35332C>T (p.His11778Tyr)
c.17095C>T (p.His5699Tyr)
c.6949C>T (p.His2317Tyr)
2g.178630322G>CCA349645596TTNc.36496C>G (p.His12166Asp)
c.17581C>G (p.His5861Asp)
c.17380C>G (p.His5794Asp)
c.17005C>G (p.His5669Asp)
c.44200C>G (p.His14734Asp)
c.39277C>G (p.His13093Asp)
c.43297C>G (p.His14433Asp)
c.17191C>G (p.His5731Asp)
c.17050C>G (p.His5684Asp)
c.43093C>G (p.His14365Asp)
c.38491C>G (p.His12831Asp)
c.38488C>G (p.His12830Asp)
c.35530C>G (p.His11844Asp)
c.17146C>G (p.His5716Asp)
c.38641C>G (p.His12881Asp)
c.38638C>G (p.His12880Asp)
c.38071C>G (p.His12691Asp)
c.35413C>G (p.His11805Asp)
c.35332C>G (p.His11778Asp)
c.17095C>G (p.His5699Asp)
c.6949C>G (p.His2317Asp)
2g.178630322G>TCA349645599TTNc.36496C>A (p.His12166Asn)
c.17581C>A (p.His5861Asn)
c.17380C>A (p.His5794Asn)
c.17005C>A (p.His5669Asn)
c.44200C>A (p.His14734Asn)
c.39277C>A (p.His13093Asn)
c.43297C>A (p.His14433Asn)
c.17191C>A (p.His5731Asn)
c.17050C>A (p.His5684Asn)
c.43093C>A (p.His14365Asn)
c.38491C>A (p.His12831Asn)
c.38488C>A (p.His12830Asn)
c.35530C>A (p.His11844Asn)
c.17146C>A (p.His5716Asn)
c.38641C>A (p.His12881Asn)
c.38638C>A (p.His12880Asn)
c.38071C>A (p.His12691Asn)
c.35413C>A (p.His11805Asn)
c.35332C>A (p.His11778Asn)
c.17095C>A (p.His5699Asn)
c.6949C>A (p.His2317Asn)
2g.178630323C>ACA349645603TTNc.36495G>T (p.Leu12165Phe)
c.17580G>T (p.Leu5860Phe)
c.17379G>T (p.Leu5793Phe)
c.17004G>T (p.Leu5668Phe)
c.44199G>T (p.Leu14733Phe)
c.39276G>T (p.Leu13092Phe)
c.43296G>T (p.Leu14432Phe)
c.17190G>T (p.Leu5730Phe)
c.17049G>T (p.Leu5683Phe)
c.43092G>T (p.Leu14364Phe)
c.38490G>T (p.Leu12830Phe)
c.38487G>T (p.Leu12829Phe)
c.35529G>T (p.Leu11843Phe)
c.17145G>T (p.Leu5715Phe)
c.38640G>T (p.Leu12880Phe)
c.38637G>T (p.Leu12879Phe)
c.38070G>T (p.Leu12690Phe)
c.35412G>T (p.Leu11804Phe)
c.35331G>T (p.Leu11777Phe)
c.17094G>T (p.Leu5698Phe)
c.6948G>T (p.Leu2316Phe)
2g.178630323C>GCA349645604TTNc.36495G>C (p.Leu12165Phe)
c.17580G>C (p.Leu5860Phe)
c.17379G>C (p.Leu5793Phe)
c.17004G>C (p.Leu5668Phe)
c.44199G>C (p.Leu14733Phe)
c.39276G>C (p.Leu13092Phe)
c.43296G>C (p.Leu14432Phe)
c.17190G>C (p.Leu5730Phe)
c.17049G>C (p.Leu5683Phe)
c.43092G>C (p.Leu14364Phe)
c.38490G>C (p.Leu12830Phe)
c.38487G>C (p.Leu12829Phe)
c.35529G>C (p.Leu11843Phe)
c.17145G>C (p.Leu5715Phe)
c.38640G>C (p.Leu12880Phe)
c.38637G>C (p.Leu12879Phe)
c.38070G>C (p.Leu12690Phe)
c.35412G>C (p.Leu11804Phe)
c.35331G>C (p.Leu11777Phe)
c.17094G>C (p.Leu5698Phe)
c.6948G>C (p.Leu2316Phe)
2g.178630323C>TCA430113558TTNc.36495G>A (p.Leu12165=)
c.17580G>A (p.Leu5860=)
c.17379G>A (p.Leu5793=)
c.17004G>A (p.Leu5668=)
c.44199G>A (p.Leu14733=)
c.39276G>A (p.Leu13092=)
c.43296G>A (p.Leu14432=)
c.17190G>A (p.Leu5730=)
c.17049G>A (p.Leu5683=)
c.43092G>A (p.Leu14364=)
c.38490G>A (p.Leu12830=)
c.38487G>A (p.Leu12829=)
c.35529G>A (p.Leu11843=)
c.17145G>A (p.Leu5715=)
c.38640G>A (p.Leu12880=)
c.38637G>A (p.Leu12879=)
c.38070G>A (p.Leu12690=)
c.35412G>A (p.Leu11804=)
c.35331G>A (p.Leu11777=)
c.17094G>A (p.Leu5698=)
c.6948G>A (p.Leu2316=)
2g.178630324A>CCA349645605TTNc.36494T>G (p.Leu12165Trp)
c.17579T>G (p.Leu5860Trp)
c.17378T>G (p.Leu5793Trp)
c.17003T>G (p.Leu5668Trp)
c.44198T>G (p.Leu14733Trp)
c.39275T>G (p.Leu13092Trp)
c.43295T>G (p.Leu14432Trp)
c.17189T>G (p.Leu5730Trp)
c.17048T>G (p.Leu5683Trp)
c.43091T>G (p.Leu14364Trp)
c.38489T>G (p.Leu12830Trp)
c.38486T>G (p.Leu12829Trp)
c.35528T>G (p.Leu11843Trp)
c.17144T>G (p.Leu5715Trp)
c.38639T>G (p.Leu12880Trp)
c.38636T>G (p.Leu12879Trp)
c.38069T>G (p.Leu12690Trp)
c.35411T>G (p.Leu11804Trp)
c.35330T>G (p.Leu11777Trp)
c.17093T>G (p.Leu5698Trp)
c.6947T>G (p.Leu2316Trp)
2g.178630324A>GCA349645611TTNc.36494T>C (p.Leu12165Ser)
c.17579T>C (p.Leu5860Ser)
c.17378T>C (p.Leu5793Ser)
c.17003T>C (p.Leu5668Ser)
c.44198T>C (p.Leu14733Ser)
c.39275T>C (p.Leu13092Ser)
c.43295T>C (p.Leu14432Ser)
c.17189T>C (p.Leu5730Ser)
c.17048T>C (p.Leu5683Ser)
c.43091T>C (p.Leu14364Ser)
c.38489T>C (p.Leu12830Ser)
c.38486T>C (p.Leu12829Ser)
c.35528T>C (p.Leu11843Ser)
c.17144T>C (p.Leu5715Ser)
c.38639T>C (p.Leu12880Ser)
c.38636T>C (p.Leu12879Ser)
c.38069T>C (p.Leu12690Ser)
c.35411T>C (p.Leu11804Ser)
c.35330T>C (p.Leu11777Ser)
c.17093T>C (p.Leu5698Ser)
c.6947T>C (p.Leu2316Ser)
 gnomAD v4
2g.178630324A>TCA349645608TTNc.36494T>A (p.Leu12165Ter)
c.17579T>A (p.Leu5860Ter)
c.17378T>A (p.Leu5793Ter)
c.17003T>A (p.Leu5668Ter)
c.44198T>A (p.Leu14733Ter)
c.39275T>A (p.Leu13092Ter)
c.43295T>A (p.Leu14432Ter)
c.17189T>A (p.Leu5730Ter)
c.17048T>A (p.Leu5683Ter)
c.43091T>A (p.Leu14364Ter)
c.38489T>A (p.Leu12830Ter)
c.38486T>A (p.Leu12829Ter)
c.35528T>A (p.Leu11843Ter)
c.17144T>A (p.Leu5715Ter)
c.38639T>A (p.Leu12880Ter)
c.38636T>A (p.Leu12879Ter)
c.38069T>A (p.Leu12690Ter)
c.35411T>A (p.Leu11804Ter)
c.35330T>A (p.Leu11777Ter)
c.17093T>A (p.Leu5698Ter)
c.6947T>A (p.Leu2316Ter)
2g.178630325A=CA1310555929TTNc.36493T= (p.Leu12165=)
c.17578T= (p.Leu5860=)
c.17377T= (p.Leu5793=)
c.17002T= (p.Leu5668=)
c.44197T= (p.Leu14733=)
c.39274T= (p.Leu13092=)
c.43294T= (p.Leu14432=)
c.17188T= (p.Leu5730=)
c.17047T= (p.Leu5683=)
c.43090T= (p.Leu14364=)
c.38488T= (p.Leu12830=)
c.38485T= (p.Leu12829=)
c.35527T= (p.Leu11843=)
c.17143T= (p.Leu5715=)
c.38638T= (p.Leu12880=)
c.38635T= (p.Leu12879=)
c.38068T= (p.Leu12690=)
c.35410T= (p.Leu11804=)
c.35329T= (p.Leu11777=)
c.17092T= (p.Leu5698=)
c.6946T= (p.Leu2316=)
2g.178630325A>CCA349645614TTNc.36493T>G (p.Leu12165Val)
c.17578T>G (p.Leu5860Val)
c.17377T>G (p.Leu5793Val)
c.17002T>G (p.Leu5668Val)
c.44197T>G (p.Leu14733Val)
c.39274T>G (p.Leu13092Val)
c.43294T>G (p.Leu14432Val)
c.17188T>G (p.Leu5730Val)
c.17047T>G (p.Leu5683Val)
c.43090T>G (p.Leu14364Val)
c.38488T>G (p.Leu12830Val)
c.38485T>G (p.Leu12829Val)
c.35527T>G (p.Leu11843Val)
c.17143T>G (p.Leu5715Val)
c.38638T>G (p.Leu12880Val)
c.38635T>G (p.Leu12879Val)
c.38068T>G (p.Leu12690Val)
c.35410T>G (p.Leu11804Val)
c.35329T>G (p.Leu11777Val)
c.17092T>G (p.Leu5698Val)
c.6946T>G (p.Leu2316Val)
2g.178630325A>GCA430113560TTNc.36493T>C (p.Leu12165=)
c.17578T>C (p.Leu5860=)
c.17377T>C (p.Leu5793=)
c.17002T>C (p.Leu5668=)
c.44197T>C (p.Leu14733=)
c.39274T>C (p.Leu13092=)
c.43294T>C (p.Leu14432=)
c.17188T>C (p.Leu5730=)
c.17047T>C (p.Leu5683=)
c.43090T>C (p.Leu14364=)
c.38488T>C (p.Leu12830=)
c.38485T>C (p.Leu12829=)
c.35527T>C (p.Leu11843=)
c.17143T>C (p.Leu5715=)
c.38638T>C (p.Leu12880=)
c.38635T>C (p.Leu12879=)
c.38068T>C (p.Leu12690=)
c.35410T>C (p.Leu11804=)
c.35329T>C (p.Leu11777=)
c.17092T>C (p.Leu5698=)
c.6946T>C (p.Leu2316=)
 ClinVar dbSNP
2g.178630325A>TCA349645616TTNc.36493T>A (p.Leu12165Met)
c.17578T>A (p.Leu5860Met)
c.17377T>A (p.Leu5793Met)
c.17002T>A (p.Leu5668Met)
c.44197T>A (p.Leu14733Met)
c.39274T>A (p.Leu13092Met)
c.43294T>A (p.Leu14432Met)
c.17188T>A (p.Leu5730Met)
c.17047T>A (p.Leu5683Met)
c.43090T>A (p.Leu14364Met)
c.38488T>A (p.Leu12830Met)
c.38485T>A (p.Leu12829Met)
c.35527T>A (p.Leu11843Met)
c.17143T>A (p.Leu5715Met)
c.38638T>A (p.Leu12880Met)
c.38635T>A (p.Leu12879Met)
c.38068T>A (p.Leu12690Met)
c.35410T>A (p.Leu11804Met)
c.35329T>A (p.Leu11777Met)
c.17092T>A (p.Leu5698Met)
c.6946T>A (p.Leu2316Met)
2g.178630326A>CCA430113562TTNc.36492T>G (p.Val12164=)
c.17577T>G (p.Val5859=)
c.17376T>G (p.Val5792=)
c.17001T>G (p.Val5667=)
c.44196T>G (p.Val14732=)
c.39273T>G (p.Val13091=)
c.43293T>G (p.Val14431=)
c.17187T>G (p.Val5729=)
c.17046T>G (p.Val5682=)
c.43089T>G (p.Val14363=)
c.38487T>G (p.Val12829=)
c.38484T>G (p.Val12828=)
c.35526T>G (p.Val11842=)
c.17142T>G (p.Val5714=)
c.38637T>G (p.Val12879=)
c.38634T>G (p.Val12878=)
c.38067T>G (p.Val12689=)
c.35409T>G (p.Val11803=)
c.35328T>G (p.Val11776=)
c.17091T>G (p.Val5697=)
c.6945T>G (p.Val2315=)
2g.178630326A>GCA430113564TTNc.36492T>C (p.Val12164=)
c.17577T>C (p.Val5859=)
c.17376T>C (p.Val5792=)
c.17001T>C (p.Val5667=)
c.44196T>C (p.Val14732=)
c.39273T>C (p.Val13091=)
c.43293T>C (p.Val14431=)
c.17187T>C (p.Val5729=)
c.17046T>C (p.Val5682=)
c.43089T>C (p.Val14363=)
c.38487T>C (p.Val12829=)
c.38484T>C (p.Val12828=)
c.35526T>C (p.Val11842=)
c.17142T>C (p.Val5714=)
c.38637T>C (p.Val12879=)
c.38634T>C (p.Val12878=)
c.38067T>C (p.Val12689=)
c.35409T>C (p.Val11803=)
c.35328T>C (p.Val11776=)
c.17091T>C (p.Val5697=)
c.6945T>C (p.Val2315=)
2g.178630326A>TCA430113563TTNc.36492T>A (p.Val12164=)
c.17577T>A (p.Val5859=)
c.17376T>A (p.Val5792=)
c.17001T>A (p.Val5667=)
c.44196T>A (p.Val14732=)
c.39273T>A (p.Val13091=)
c.43293T>A (p.Val14431=)
c.17187T>A (p.Val5729=)
c.17046T>A (p.Val5682=)
c.43089T>A (p.Val14363=)
c.38487T>A (p.Val12829=)
c.38484T>A (p.Val12828=)
c.35526T>A (p.Val11842=)
c.17142T>A (p.Val5714=)
c.38637T>A (p.Val12879=)
c.38634T>A (p.Val12878=)
c.38067T>A (p.Val12689=)
c.35409T>A (p.Val11803=)
c.35328T>A (p.Val11776=)
c.17091T>A (p.Val5697=)
c.6945T>A (p.Val2315=)
2g.178630327A>CCA349645619TTNc.36491T>G (p.Val12164Gly)
c.17576T>G (p.Val5859Gly)
c.17375T>G (p.Val5792Gly)
c.17000T>G (p.Val5667Gly)
c.44195T>G (p.Val14732Gly)
c.39272T>G (p.Val13091Gly)
c.43292T>G (p.Val14431Gly)
c.17186T>G (p.Val5729Gly)
c.17045T>G (p.Val5682Gly)
c.43088T>G (p.Val14363Gly)
c.38486T>G (p.Val12829Gly)
c.38483T>G (p.Val12828Gly)
c.35525T>G (p.Val11842Gly)
c.17141T>G (p.Val5714Gly)
c.38636T>G (p.Val12879Gly)
c.38633T>G (p.Val12878Gly)
c.38066T>G (p.Val12689Gly)
c.35408T>G (p.Val11803Gly)
c.35327T>G (p.Val11776Gly)
c.17090T>G (p.Val5697Gly)
c.6944T>G (p.Val2315Gly)
2g.178630327A>GCA349645622TTNc.36491T>C (p.Val12164Ala)
c.17576T>C (p.Val5859Ala)
c.17375T>C (p.Val5792Ala)
c.17000T>C (p.Val5667Ala)
c.44195T>C (p.Val14732Ala)
c.39272T>C (p.Val13091Ala)
c.43292T>C (p.Val14431Ala)
c.17186T>C (p.Val5729Ala)
c.17045T>C (p.Val5682Ala)
c.43088T>C (p.Val14363Ala)
c.38486T>C (p.Val12829Ala)
c.38483T>C (p.Val12828Ala)
c.35525T>C (p.Val11842Ala)
c.17141T>C (p.Val5714Ala)
c.38636T>C (p.Val12879Ala)
c.38633T>C (p.Val12878Ala)
c.38066T>C (p.Val12689Ala)
c.35408T>C (p.Val11803Ala)
c.35327T>C (p.Val11776Ala)
c.17090T>C (p.Val5697Ala)
c.6944T>C (p.Val2315Ala)
2g.178630327A>TCA349645623TTNc.36491T>A (p.Val12164Asp)
c.17576T>A (p.Val5859Asp)
c.17375T>A (p.Val5792Asp)
c.17000T>A (p.Val5667Asp)
c.44195T>A (p.Val14732Asp)
c.39272T>A (p.Val13091Asp)
c.43292T>A (p.Val14431Asp)
c.17186T>A (p.Val5729Asp)
c.17045T>A (p.Val5682Asp)
c.43088T>A (p.Val14363Asp)
c.38486T>A (p.Val12829Asp)
c.38483T>A (p.Val12828Asp)
c.35525T>A (p.Val11842Asp)
c.17141T>A (p.Val5714Asp)
c.38636T>A (p.Val12879Asp)
c.38633T>A (p.Val12878Asp)
c.38066T>A (p.Val12689Asp)
c.35408T>A (p.Val11803Asp)
c.35327T>A (p.Val11776Asp)
c.17090T>A (p.Val5697Asp)
c.6944T>A (p.Val2315Asp)
2g.178630328C>ACA349645625TTNc.36490G>T (p.Val12164Phe)
c.17575G>T (p.Val5859Phe)
c.17374G>T (p.Val5792Phe)
c.16999G>T (p.Val5667Phe)
c.44194G>T (p.Val14732Phe)
c.39271G>T (p.Val13091Phe)
c.43291G>T (p.Val14431Phe)
c.17185G>T (p.Val5729Phe)
c.17044G>T (p.Val5682Phe)
c.43087G>T (p.Val14363Phe)
c.38485G>T (p.Val12829Phe)
c.38482G>T (p.Val12828Phe)
c.35524G>T (p.Val11842Phe)
c.17140G>T (p.Val5714Phe)
c.38635G>T (p.Val12879Phe)
c.38632G>T (p.Val12878Phe)
c.38065G>T (p.Val12689Phe)
c.35407G>T (p.Val11803Phe)
c.35326G>T (p.Val11776Phe)
c.17089G>T (p.Val5697Phe)
c.6943G>T (p.Val2315Phe)
2g.178630328C>GCA349645628TTNc.36490G>C (p.Val12164Leu)
c.17575G>C (p.Val5859Leu)
c.17374G>C (p.Val5792Leu)
c.16999G>C (p.Val5667Leu)
c.44194G>C (p.Val14732Leu)
c.39271G>C (p.Val13091Leu)
c.43291G>C (p.Val14431Leu)
c.17185G>C (p.Val5729Leu)
c.17044G>C (p.Val5682Leu)
c.43087G>C (p.Val14363Leu)
c.38485G>C (p.Val12829Leu)
c.38482G>C (p.Val12828Leu)
c.35524G>C (p.Val11842Leu)
c.17140G>C (p.Val5714Leu)
c.38635G>C (p.Val12879Leu)
c.38632G>C (p.Val12878Leu)
c.38065G>C (p.Val12689Leu)
c.35407G>C (p.Val11803Leu)
c.35326G>C (p.Val11776Leu)
c.17089G>C (p.Val5697Leu)
c.6943G>C (p.Val2315Leu)
2g.178630328C>TCA349645631TTNc.36490G>A (p.Val12164Ile)
c.17575G>A (p.Val5859Ile)
c.17374G>A (p.Val5792Ile)
c.16999G>A (p.Val5667Ile)
c.44194G>A (p.Val14732Ile)
c.39271G>A (p.Val13091Ile)
c.43291G>A (p.Val14431Ile)
c.17185G>A (p.Val5729Ile)
c.17044G>A (p.Val5682Ile)
c.43087G>A (p.Val14363Ile)
c.38485G>A (p.Val12829Ile)
c.38482G>A (p.Val12828Ile)
c.35524G>A (p.Val11842Ile)
c.17140G>A (p.Val5714Ile)
c.38635G>A (p.Val12879Ile)
c.38632G>A (p.Val12878Ile)
c.38065G>A (p.Val12689Ile)
c.35407G>A (p.Val11803Ile)
c.35326G>A (p.Val11776Ile)
c.17089G>A (p.Val5697Ile)
c.6943G>A (p.Val2315Ile)
2g.178630329A=CA1310555930TTNc.36489T= (p.Leu12163=)
c.17574T= (p.Leu5858=)
c.17373T= (p.Leu5791=)
c.16998T= (p.Leu5666=)
c.44193T= (p.Leu14731=)
c.39270T= (p.Leu13090=)
c.43290T= (p.Leu14430=)
c.17184T= (p.Leu5728=)
c.17043T= (p.Leu5681=)
c.43086T= (p.Leu14362=)
c.38484T= (p.Leu12828=)
c.38481T= (p.Leu12827=)
c.35523T= (p.Leu11841=)
c.17139T= (p.Leu5713=)
c.38634T= (p.Leu12878=)
c.38631T= (p.Leu12877=)
c.38064T= (p.Leu12688=)
c.35406T= (p.Leu11802=)
c.35325T= (p.Leu11775=)
c.17088T= (p.Leu5696=)
c.6942T= (p.Leu2314=)
2g.178630329A>CCA430113570TTNc.36489T>G (p.Leu12163=)
c.17574T>G (p.Leu5858=)
c.17373T>G (p.Leu5791=)
c.16998T>G (p.Leu5666=)
c.44193T>G (p.Leu14731=)
c.39270T>G (p.Leu13090=)
c.43290T>G (p.Leu14430=)
c.17184T>G (p.Leu5728=)
c.17043T>G (p.Leu5681=)
c.43086T>G (p.Leu14362=)
c.38484T>G (p.Leu12828=)
c.38481T>G (p.Leu12827=)
c.35523T>G (p.Leu11841=)
c.17139T>G (p.Leu5713=)
c.38634T>G (p.Leu12878=)
c.38631T>G (p.Leu12877=)
c.38064T>G (p.Leu12688=)
c.35406T>G (p.Leu11802=)
c.35325T>G (p.Leu11775=)
c.17088T>G (p.Leu5696=)
c.6942T>G (p.Leu2314=)
 ClinVar dbSNP gnomAD v4
2g.178630329A>GCA430113571TTNc.36489T>C (p.Leu12163=)
c.17574T>C (p.Leu5858=)
c.17373T>C (p.Leu5791=)
c.16998T>C (p.Leu5666=)
c.44193T>C (p.Leu14731=)
c.39270T>C (p.Leu13090=)
c.43290T>C (p.Leu14430=)
c.17184T>C (p.Leu5728=)
c.17043T>C (p.Leu5681=)
c.43086T>C (p.Leu14362=)
c.38484T>C (p.Leu12828=)
c.38481T>C (p.Leu12827=)
c.35523T>C (p.Leu11841=)
c.17139T>C (p.Leu5713=)
c.38634T>C (p.Leu12878=)
c.38631T>C (p.Leu12877=)
c.38064T>C (p.Leu12688=)
c.35406T>C (p.Leu11802=)
c.35325T>C (p.Leu11775=)
c.17088T>C (p.Leu5696=)
c.6942T>C (p.Leu2314=)
 COSMIC COSMIC COSMIC COSMIC
2g.178630329A>TCA430113573TTNc.36489T>A (p.Leu12163=)
c.17574T>A (p.Leu5858=)
c.17373T>A (p.Leu5791=)
c.16998T>A (p.Leu5666=)
c.44193T>A (p.Leu14731=)
c.39270T>A (p.Leu13090=)
c.43290T>A (p.Leu14430=)
c.17184T>A (p.Leu5728=)
c.17043T>A (p.Leu5681=)
c.43086T>A (p.Leu14362=)
c.38484T>A (p.Leu12828=)
c.38481T>A (p.Leu12827=)
c.35523T>A (p.Leu11841=)
c.17139T>A (p.Leu5713=)
c.38634T>A (p.Leu12878=)
c.38631T>A (p.Leu12877=)
c.38064T>A (p.Leu12688=)
c.35406T>A (p.Leu11802=)
c.35325T>A (p.Leu11775=)
c.17088T>A (p.Leu5696=)
c.6942T>A (p.Leu2314=)
2g.178630330A>CCA349645632TTNc.36488T>G (p.Leu12163Arg)
c.17573T>G (p.Leu5858Arg)
c.17372T>G (p.Leu5791Arg)
c.16997T>G (p.Leu5666Arg)
c.44192T>G (p.Leu14731Arg)
c.39269T>G (p.Leu13090Arg)
c.43289T>G (p.Leu14430Arg)
c.17183T>G (p.Leu5728Arg)
c.17042T>G (p.Leu5681Arg)
c.43085T>G (p.Leu14362Arg)
c.38483T>G (p.Leu12828Arg)
c.38480T>G (p.Leu12827Arg)
c.35522T>G (p.Leu11841Arg)
c.17138T>G (p.Leu5713Arg)
c.38633T>G (p.Leu12878Arg)
c.38630T>G (p.Leu12877Arg)
c.38063T>G (p.Leu12688Arg)
c.35405T>G (p.Leu11802Arg)
c.35324T>G (p.Leu11775Arg)
c.17087T>G (p.Leu5696Arg)
c.6941T>G (p.Leu2314Arg)
2g.178630330A>GCA349645634TTNc.36488T>C (p.Leu12163Pro)
c.17573T>C (p.Leu5858Pro)
c.17372T>C (p.Leu5791Pro)
c.16997T>C (p.Leu5666Pro)
c.44192T>C (p.Leu14731Pro)
c.39269T>C (p.Leu13090Pro)
c.43289T>C (p.Leu14430Pro)
c.17183T>C (p.Leu5728Pro)
c.17042T>C (p.Leu5681Pro)
c.43085T>C (p.Leu14362Pro)
c.38483T>C (p.Leu12828Pro)
c.38480T>C (p.Leu12827Pro)
c.35522T>C (p.Leu11841Pro)
c.17138T>C (p.Leu5713Pro)
c.38633T>C (p.Leu12878Pro)
c.38630T>C (p.Leu12877Pro)
c.38063T>C (p.Leu12688Pro)
c.35405T>C (p.Leu11802Pro)
c.35324T>C (p.Leu11775Pro)
c.17087T>C (p.Leu5696Pro)
c.6941T>C (p.Leu2314Pro)
2g.178630330A>TCA349645633TTNc.36488T>A (p.Leu12163His)
c.17573T>A (p.Leu5858His)
c.17372T>A (p.Leu5791His)
c.16997T>A (p.Leu5666His)
c.44192T>A (p.Leu14731His)
c.39269T>A (p.Leu13090His)
c.43289T>A (p.Leu14430His)
c.17183T>A (p.Leu5728His)
c.17042T>A (p.Leu5681His)
c.43085T>A (p.Leu14362His)
c.38483T>A (p.Leu12828His)
c.38480T>A (p.Leu12827His)
c.35522T>A (p.Leu11841His)
c.17138T>A (p.Leu5713His)
c.38633T>A (p.Leu12878His)
c.38630T>A (p.Leu12877His)
c.38063T>A (p.Leu12688His)
c.35405T>A (p.Leu11802His)
c.35324T>A (p.Leu11775His)
c.17087T>A (p.Leu5696His)
c.6941T>A (p.Leu2314His)
2g.178630331G>ACA1995723TTNc.36487C>T (p.Leu12163Phe)
c.17572C>T (p.Leu5858Phe)
c.17371C>T (p.Leu5791Phe)
c.16996C>T (p.Leu5666Phe)
c.44191C>T (p.Leu14731Phe)
c.39268C>T (p.Leu13090Phe)
c.43288C>T (p.Leu14430Phe)
c.17182C>T (p.Leu5728Phe)
c.17041C>T (p.Leu5681Phe)
c.43084C>T (p.Leu14362Phe)
c.38482C>T (p.Leu12828Phe)
c.38479C>T (p.Leu12827Phe)
c.35521C>T (p.Leu11841Phe)
c.17137C>T (p.Leu5713Phe)
c.38632C>T (p.Leu12878Phe)
c.38629C>T (p.Leu12877Phe)
c.38062C>T (p.Leu12688Phe)
c.35404C>T (p.Leu11802Phe)
c.35323C>T (p.Leu11775Phe)
c.17086C>T (p.Leu5696Phe)
c.6940C>T (p.Leu2314Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178630331G>CCA349645635TTNc.36487C>G (p.Leu12163Val)
c.17572C>G (p.Leu5858Val)
c.17371C>G (p.Leu5791Val)
c.16996C>G (p.Leu5666Val)
c.44191C>G (p.Leu14731Val)
c.39268C>G (p.Leu13090Val)
c.43288C>G (p.Leu14430Val)
c.17182C>G (p.Leu5728Val)
c.17041C>G (p.Leu5681Val)
c.43084C>G (p.Leu14362Val)
c.38482C>G (p.Leu12828Val)
c.38479C>G (p.Leu12827Val)
c.35521C>G (p.Leu11841Val)
c.17137C>G (p.Leu5713Val)
c.38632C>G (p.Leu12878Val)
c.38629C>G (p.Leu12877Val)
c.38062C>G (p.Leu12688Val)
c.35404C>G (p.Leu11802Val)
c.35323C>G (p.Leu11775Val)
c.17086C>G (p.Leu5696Val)
c.6940C>G (p.Leu2314Val)
2g.178630331G=CA1310555931TTNc.36487C= (p.Leu12163=)
c.17572C= (p.Leu5858=)
c.17371C= (p.Leu5791=)
c.16996C= (p.Leu5666=)
c.44191C= (p.Leu14731=)
c.39268C= (p.Leu13090=)
c.43288C= (p.Leu14430=)
c.17182C= (p.Leu5728=)
c.17041C= (p.Leu5681=)
c.43084C= (p.Leu14362=)
c.38482C= (p.Leu12828=)
c.38479C= (p.Leu12827=)
c.35521C= (p.Leu11841=)
c.17137C= (p.Leu5713=)
c.38632C= (p.Leu12878=)
c.38629C= (p.Leu12877=)
c.38062C= (p.Leu12688=)
c.35404C= (p.Leu11802=)
c.35323C= (p.Leu11775=)
c.17086C= (p.Leu5696=)
c.6940C= (p.Leu2314=)
2g.178630331G>TCA349645638TTNc.36487C>A (p.Leu12163Ile)
c.17572C>A (p.Leu5858Ile)
c.17371C>A (p.Leu5791Ile)
c.16996C>A (p.Leu5666Ile)
c.44191C>A (p.Leu14731Ile)
c.39268C>A (p.Leu13090Ile)
c.43288C>A (p.Leu14430Ile)
c.17182C>A (p.Leu5728Ile)
c.17041C>A (p.Leu5681Ile)
c.43084C>A (p.Leu14362Ile)
c.38482C>A (p.Leu12828Ile)
c.38479C>A (p.Leu12827Ile)
c.35521C>A (p.Leu11841Ile)
c.17137C>A (p.Leu5713Ile)
c.38632C>A (p.Leu12878Ile)
c.38629C>A (p.Leu12877Ile)
c.38062C>A (p.Leu12688Ile)
c.35404C>A (p.Leu11802Ile)
c.35323C>A (p.Leu11775Ile)
c.17086C>A (p.Leu5696Ile)
c.6940C>A (p.Leu2314Ile)
2g.178630332G>ACA61001001TTNc.36486C>T (p.Ser12162=)
c.17571C>T (p.Ser5857=)
c.17370C>T (p.Ser5790=)
c.16995C>T (p.Ser5665=)
c.44190C>T (p.Ser14730=)
c.39267C>T (p.Ser13089=)
c.43287C>T (p.Ser14429=)
c.17181C>T (p.Ser5727=)
c.17040C>T (p.Ser5680=)
c.43083C>T (p.Ser14361=)
c.38481C>T (p.Ser12827=)
c.38478C>T (p.Ser12826=)
c.35520C>T (p.Ser11840=)
c.17136C>T (p.Ser5712=)
c.38631C>T (p.Ser12877=)
c.38628C>T (p.Ser12876=)
c.38061C>T (p.Ser12687=)
c.35403C>T (p.Ser11801=)
c.35322C>T (p.Ser11774=)
c.17085C>T (p.Ser5695=)
c.6939C>T (p.Ser2313=)
 dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178630332G>CCA430113580TTNc.36486C>G (p.Ser12162=)
c.17571C>G (p.Ser5857=)
c.17370C>G (p.Ser5790=)
c.16995C>G (p.Ser5665=)
c.44190C>G (p.Ser14730=)
c.39267C>G (p.Ser13089=)
c.43287C>G (p.Ser14429=)
c.17181C>G (p.Ser5727=)
c.17040C>G (p.Ser5680=)
c.43083C>G (p.Ser14361=)
c.38481C>G (p.Ser12827=)
c.38478C>G (p.Ser12826=)
c.35520C>G (p.Ser11840=)
c.17136C>G (p.Ser5712=)
c.38631C>G (p.Ser12877=)
c.38628C>G (p.Ser12876=)
c.38061C>G (p.Ser12687=)
c.35403C>G (p.Ser11801=)
c.35322C>G (p.Ser11774=)
c.17085C>G (p.Ser5695=)
c.6939C>G (p.Ser2313=)
2g.178630332G=CA1310555932TTNc.36486C= (p.Ser12162=)
c.17571C= (p.Ser5857=)
c.17370C= (p.Ser5790=)
c.16995C= (p.Ser5665=)
c.44190C= (p.Ser14730=)
c.39267C= (p.Ser13089=)
c.43287C= (p.Ser14429=)
c.17181C= (p.Ser5727=)
c.17040C= (p.Ser5680=)
c.43083C= (p.Ser14361=)
c.38481C= (p.Ser12827=)
c.38478C= (p.Ser12826=)
c.35520C= (p.Ser11840=)
c.17136C= (p.Ser5712=)
c.38631C= (p.Ser12877=)
c.38628C= (p.Ser12876=)
c.38061C= (p.Ser12687=)
c.35403C= (p.Ser11801=)
c.35322C= (p.Ser11774=)
c.17085C= (p.Ser5695=)
c.6939C= (p.Ser2313=)

Number of alleles fetched