Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.77794418_77794425dupCA1125711816GNAQc.735+40_735+47dup (n.735+40_735+47dup)
c.561+40_561+47dup (n.561+40_561+47dup)
 dbSNP gnomAD v3 gnomAD v4
9g.77794419A>GCA2690385095GNAQc.735+44T>C (n.735+44T>C)
c.561+44T>C (n.561+44T>C)
 gnomAD v4
9g.77794419A>TCA2690385096GNAQc.735+44T>A (n.735+44T>A)
c.561+44T>A (n.561+44T>A)
 dbSNP gnomAD v4
9g.77794420G>ACA2690385097GNAQc.735+43C>T (n.735+43C>T)
c.561+43C>T (n.561+43C>T)
 dbSNP gnomAD v4
9g.77794420G>CCA2690385099GNAQc.735+43C>G (n.735+43C>G)
c.561+43C>G (n.561+43C>G)
 dbSNP gnomAD v4
9g.77794420G>TCA2690385098GNAQc.735+43C>A (n.735+43C>A)
c.561+43C>A (n.561+43C>A)
 dbSNP gnomAD v4
9g.77794421A=CA1857429302GNAQc.735+42T= (n.735+42T=)
c.561+42T= (n.561+42T=)
9g.77794421A>GCA5094575GNAQc.735+42T>C (n.735+42T>C)
c.561+42T>C (n.561+42T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.77794421A>TCA2719594390GNAQc.735+42T>A (n.735+42T>A)
c.561+42T>A (n.561+42T>A)
 dbSNP
9g.77794422T>CCA2690385100GNAQc.735+41A>G (n.735+41A>G)
c.561+41A>G (n.561+41A>G)
 gnomAD v4
9g.77794423A>GCA2690385102GNAQc.735+40T>C (n.735+40T>C)
c.561+40T>C (n.561+40T>C)
 gnomAD v4
9g.77794423A>TCA2719850281GNAQc.735+40T>A (n.735+40T>A)
c.561+40T>A (n.561+40T>A)
 dbSNP
9g.77794424delCA2690385101GNAQc.735+40del (n.735+40del)
c.561+40del (n.561+40del)
 gnomAD v4
9g.77794424A>GCA2690385103GNAQc.735+39T>C (n.735+39T>C)
c.561+39T>C (n.561+39T>C)
 gnomAD v4
9g.77794424A>TCA2719850283GNAQc.735+39T>A (n.735+39T>A)
c.561+39T>A (n.561+39T>A)
 dbSNP
9g.77794425T>ACA2690385104GNAQc.735+38A>T (n.735+38A>T)
c.561+38A>T (n.561+38A>T)
 gnomAD v4
9g.77794425T>CCA2690385105GNAQc.735+38A>G (n.735+38A>G)
c.561+38A>G (n.561+38A>G)
 gnomAD v4
9g.77794426A>GCA2690385107GNAQc.735+37T>C (n.735+37T>C)
c.561+37T>C (n.561+37T>C)
 gnomAD v4
9g.77794426A>TCA2579361427GNAQc.735+37T>A (n.735+37T>A)
c.561+37T>A (n.561+37T>A)
 gnomAD v4
9g.77794429delCA2690385106GNAQc.735+37del (n.735+37del)
c.561+37del (n.561+37del)
 gnomAD v4
9g.77794427A=CA1857429305GNAQc.735+36T= (n.735+36T=)
c.561+36T= (n.561+36T=)
9g.77794427A>CCA588764515GNAQc.735+36T>G (n.735+36T>G)
c.561+36T>G (n.561+36T>G)
 dbSNP gnomAD v2 gnomAD v4
9g.77794427A>GCA2690385108GNAQc.735+36T>C (n.735+36T>C)
c.561+36T>C (n.561+36T>C)
 gnomAD v4
9g.77794427A>TCA2690385109GNAQc.735+36T>A (n.735+36T>A)
c.561+36T>A (n.561+36T>A)
 gnomAD v4
9g.77794428A>CCA2690385110GNAQc.735+35T>G (n.735+35T>G)
c.561+35T>G (n.561+35T>G)
 gnomAD v4
9g.77794428A>GCA2690385112GNAQc.735+35T>C (n.735+35T>C)
c.561+35T>C (n.561+35T>C)
 gnomAD v4
9g.77794428A>TCA2690385111GNAQc.735+35T>A (n.735+35T>A)
c.561+35T>A (n.561+35T>A)
 gnomAD v4
9g.77794429A=CA1857429307GNAQc.735+34T= (n.735+34T=)
c.561+34T= (n.561+34T=)
9g.77794429A>CCA2580878312GNAQc.735+34T>G (n.735+34T>G)
c.561+34T>G (n.561+34T>G)
9g.77794429A>GCA5094576GNAQc.735+34T>C (n.735+34T>C)
c.561+34T>C (n.561+34T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.77794429A>TCA2580878313GNAQc.735+34T>A (n.735+34T>A)
c.561+34T>A (n.561+34T>A)
 gnomAD v4
9g.77794430T>ACA2719850289GNAQc.735+33A>T (n.735+33A>T)
c.561+33A>T (n.561+33A>T)
 dbSNP
9g.77794430T>CCA2690385113GNAQc.735+33A>G (n.735+33A>G)
c.561+33A>G (n.561+33A>G)
 gnomAD v4
9g.77794431G>ACA867169150GNAQc.735+32C>T (n.735+32C>T)
c.561+32C>T (n.561+32C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.77794431G>CCA2719623380GNAQc.735+32C>G (n.735+32C>G)
c.561+32C>G (n.561+32C>G)
 dbSNP
9g.77794431G=CA1857429309GNAQc.735+32C= (n.735+32C=)
c.561+32C= (n.561+32C=)
9g.77794431G>TCA2690385114GNAQc.735+32C>A (n.735+32C>A)
c.561+32C>A (n.561+32C>A)
 dbSNP gnomAD v4
9g.77794432A>GCA2690385115GNAQc.735+31T>C (n.735+31T>C)
c.561+31T>C (n.561+31T>C)
 gnomAD v4
9g.77794432A>TCA2690385116GNAQc.735+31T>A (n.735+31T>A)
c.561+31T>A (n.561+31T>A)
 dbSNP gnomAD v4
9g.77794433T>ACA2690385117GNAQc.735+30A>T (n.735+30A>T)
c.561+30A>T (n.561+30A>T)
 gnomAD v4
9g.77794433T>CCA1857429312GNAQc.735+30A>G (n.735+30A>G)
c.561+30A>G (n.561+30A>G)
 ClinVar dbSNP gnomAD v4
9g.77794433T=CA1857429311GNAQc.735+30A= (n.735+30A=)
c.561+30A= (n.561+30A=)
9g.77794434A>CCA2690385121GNAQc.735+29T>G (n.735+29T>G)
c.561+29T>G (n.561+29T>G)
 gnomAD v4
9g.77794434A>GCA2690385119GNAQc.735+29T>C (n.735+29T>C)
c.561+29T>C (n.561+29T>C)
 gnomAD v4
9g.77794434A>TCA2690385118GNAQc.735+29T>A (n.735+29T>A)
c.561+29T>A (n.561+29T>A)
 dbSNP gnomAD v4
9g.77794435delCA2690385120GNAQc.735+29del (n.735+29del)
c.561+29del (n.561+29del)
 gnomAD v4
9g.77794435A>GCA2690385122GNAQc.735+28T>C (n.735+28T>C)
c.561+28T>C (n.561+28T>C)
 gnomAD v4
9g.77794435A>TCA2690385123GNAQc.735+28T>A (n.735+28T>A)
c.561+28T>A (n.561+28T>A)
 dbSNP gnomAD v4
9g.77794436T>ACA2690385124GNAQc.735+27A>T (n.735+27A>T)
c.561+27A>T (n.561+27A>T)
 dbSNP gnomAD v4
9g.77794436T>CCA2690385125GNAQc.735+27A>G (n.735+27A>G)
c.561+27A>G (n.561+27A>G)
 gnomAD v4
9g.77794437C>ACA2690385126GNAQc.735+26G>T (n.735+26G>T)
c.561+26G>T (n.561+26G>T)
 dbSNP gnomAD v4
9g.77794437C>GCA2719850705GNAQc.735+26G>C (n.735+26G>C)
c.561+26G>C (n.561+26G>C)
 dbSNP
9g.77794437C>TCA2690385127GNAQc.735+26G>A (n.735+26G>A)
c.561+26G>A (n.561+26G>A)
 dbSNP gnomAD v4
9g.77794438C>ACA2690385128GNAQc.735+25G>T (n.735+25G>T)
c.561+25G>T (n.561+25G>T)
 gnomAD v4
9g.77794438C>TCA2690385129GNAQc.735+25G>A (n.735+25G>A)
c.561+25G>A (n.561+25G>A)
 dbSNP gnomAD v4
9g.77794439A=CA1857429317GNAQc.735+24T= (n.735+24T=)
c.561+24T= (n.561+24T=)
9g.77794439A>GCA1125711821GNAQc.735+24T>C (n.735+24T>C)
c.561+24T>C (n.561+24T>C)
 dbSNP gnomAD v3 gnomAD v4
9g.77794439A>TCA588764516GNAQc.735+24T>A (n.735+24T>A)
c.561+24T>A (n.561+24T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.77794440T>CCA5094577GNAQc.735+23A>G (n.735+23A>G)
c.561+23A>G (n.561+23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.77794440T>GCA2690385130GNAQc.735+23A>C (n.735+23A>C)
c.561+23A>C (n.561+23A>C)
 dbSNP gnomAD v4
9g.77794440T=CA1857429320GNAQc.735+23A= (n.735+23A=)
c.561+23A= (n.561+23A=)
9g.77794441T>CCA2690385131GNAQc.735+22A>G (n.735+22A>G)
c.561+22A>G (n.561+22A>G)
 gnomAD v4
9g.77794442delCA2690385133GNAQc.735+21del (n.735+21del)
c.561+21del (n.561+21del)
 gnomAD v4
9g.77794442G>ACA5094578GNAQc.735+21C>T (n.735+21C>T)
c.561+21C>T (n.561+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.77794442G>CCA2719594394GNAQc.735+21C>G (n.735+21C>G)
c.561+21C>G (n.561+21C>G)
 dbSNP
9g.77794442G=CA1857429323GNAQc.735+21C= (n.735+21C=)
c.561+21C= (n.561+21C=)
9g.77794442G>TCA2690385132GNAQc.735+21C>A (n.735+21C>A)
c.561+21C>A (n.561+21C>A)
 dbSNP gnomAD v4
9g.77794443C>ACA2690385134GNAQc.735+20G>T (n.735+20G>T)
c.561+20G>T (n.561+20G>T)
 dbSNP gnomAD v4
9g.77794443C=CA1857429325GNAQc.735+20G= (n.735+20G=)
c.561+20G= (n.561+20G=)
9g.77794443C>GCA2719592171GNAQc.735+20G>C (n.735+20G>C)
c.561+20G>C (n.561+20G>C)
 dbSNP
9g.77794443C>TCA5094579GNAQc.735+20G>A (n.735+20G>A)
c.561+20G>A (n.561+20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.77794444C>ACA2690385135GNAQc.735+19G>T (n.735+19G>T)
c.561+19G>T (n.561+19G>T)
 gnomAD v4
9g.77794444C=CA1857429327GNAQc.735+19G= (n.735+19G=)
c.561+19G= (n.561+19G=)
9g.77794444C>GCA2719613905GNAQc.735+19G>C (n.735+19G>C)
c.561+19G>C (n.561+19G>C)
 dbSNP
9g.77794444C>TCA588764517GNAQc.735+19G>A (n.735+19G>A)
c.561+19G>A (n.561+19G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.77794445T>CCA2690385136GNAQc.735+18A>G (n.735+18A>G)
c.561+18A>G (n.561+18A>G)
 dbSNP gnomAD v4
9g.77794445T>GCA2690385137GNAQc.735+18A>C (n.735+18A>C)
c.561+18A>C (n.561+18A>C)
 gnomAD v4
9g.77794446G>ACA588764518GNAQc.735+17C>T (n.735+17C>T)
c.561+17C>T (n.561+17C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.77794446G>CCA2719630857GNAQc.735+17C>G (n.735+17C>G)
c.561+17C>G (n.561+17C>G)
 dbSNP
9g.77794446G=CA1857429329GNAQc.735+17C= (n.735+17C=)
c.561+17C= (n.561+17C=)
9g.77794446G>TCA2690385138GNAQc.735+17C>A (n.735+17C>A)
c.561+17C>A (n.561+17C>A)
 gnomAD v4
9g.77794447T>ACA2719851012GNAQc.735+16A>T (n.735+16A>T)
c.561+16A>T (n.561+16A>T)
 dbSNP
9g.77794447T>CCA2690385139GNAQc.735+16A>G (n.735+16A>G)
c.561+16A>G (n.561+16A>G)
 gnomAD v4
9g.77794447T>GCA2719850992GNAQc.735+16A>C (n.735+16A>C)
c.561+16A>C (n.561+16A>C)
 dbSNP
9g.77794448C>ACA2690385140GNAQc.735+15G>T (n.735+15G>T)
c.561+15G>T (n.561+15G>T)
 dbSNP gnomAD v4
9g.77794448C>GCA2719851138GNAQc.735+15G>C (n.735+15G>C)
c.561+15G>C (n.561+15G>C)
 dbSNP
9g.77794448C>TCA2539858810GNAQc.735+15G>A (n.735+15G>A)
c.561+15G>A (n.561+15G>A)
 dbSNP
9g.77794449T>CCA2690385142GNAQc.735+14A>G (n.735+14A>G)
c.561+14A>G (n.561+14A>G)
 gnomAD v4
9g.77794449_77794452delCA2690385141GNAQc.735+11_735+14del (n.735+11_735+14del)
c.561+11_561+14del (n.561+11_561+14del)
 gnomAD v4
9g.77794450A>GCA2690385145GNAQc.735+13T>C (n.735+13T>C)
c.561+13T>C (n.561+13T>C)
 gnomAD v4
9g.77794450A>TCA2690385144GNAQc.735+13T>A (n.735+13T>A)
c.561+13T>A (n.561+13T>A)
 dbSNP gnomAD v4
9g.77794452delCA2690385143GNAQc.735+13del (n.735+13del)
c.561+13del (n.561+13del)
 gnomAD v4
9g.77794451A>GCA2690385146GNAQc.735+12T>C (n.735+12T>C)
c.561+12T>C (n.561+12T>C)
 gnomAD v4
9g.77794451A>TCA2690385147GNAQc.735+12T>A (n.735+12T>A)
c.561+12T>A (n.561+12T>A)
 gnomAD v4
9g.77794452A>CCA2690385148GNAQc.735+11T>G (n.735+11T>G)
c.561+11T>G (n.561+11T>G)
 gnomAD v4
9g.77794452A>GCA2690385149GNAQc.735+11T>C (n.735+11T>C)
c.561+11T>C (n.561+11T>C)
 gnomAD v4
9g.77794453G>ACA5094580GNAQc.735+10C>T (n.735+10C>T)
c.561+10C>T (n.561+10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.77794453G>CCA2719593821GNAQc.735+10C>G (n.735+10C>G)
c.561+10C>G (n.561+10C>G)
 dbSNP
9g.77794453G=CA1857429332GNAQc.735+10C= (n.735+10C=)
c.561+10C= (n.561+10C=)
9g.77794453G>TCA2690385150GNAQc.735+10C>A (n.735+10C>A)
c.561+10C>A (n.561+10C>A)
 gnomAD v4
9g.77794454A=CA1857429335GNAQc.735+9T= (n.735+9T=)
c.561+9T= (n.561+9T=)
9g.77794454A>GCA5094582GNAQc.735+9T>C (n.735+9T>C)
c.561+9T>C (n.561+9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.77794454A>TCA2719587926GNAQc.735+9T>A (n.735+9T>A)
c.561+9T>A (n.561+9T>A)
 dbSNP
9g.77794454_77794456delinsAACCA1857429336GNAQc.735+7_735+9delinsGTT (n.735+7_735+9delinsGTT)
c.561+7_561+9delinsGTT (n.561+7_561+9delinsGTT)
9g.77794455A>GCA2690385151GNAQc.735+8T>C (n.735+8T>C)
c.561+8T>C (n.561+8T>C)
 gnomAD v4
9g.77794455A>TCA2719851365GNAQc.735+8T>A (n.735+8T>A)
c.561+8T>A (n.561+8T>A)
 dbSNP
9g.77794457_77794458delCA5094581GNAQc.735+7_735+8del (n.735+7_735+8del)
c.561+7_561+8del (n.561+7_561+8del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.77794456C>ACA2690385152GNAQc.735+7G>T (n.735+7G>T)
c.561+7G>T (n.561+7G>T)
 gnomAD v4
9g.77794456C>GCA2719851395GNAQc.735+7G>C (n.735+7G>C)
c.561+7G>C (n.561+7G>C)
 dbSNP
9g.77794456C>TCA2579361428GNAQc.735+7G>A (n.735+7G>A)
c.561+7G>A (n.561+7G>A)
 dbSNP gnomAD v4
9g.77794457A>CCA2719851404GNAQc.735+6T>G (n.735+6T>G)
c.561+6T>G (n.561+6T>G)
 dbSNP
9g.77794457A>GCA2690385153GNAQc.735+6T>C (n.735+6T>C)
c.561+6T>C (n.561+6T>C)
 gnomAD v4
9g.77794457A>TCA2719851402GNAQc.735+6T>A (n.735+6T>A)
c.561+6T>A (n.561+6T>A)
 dbSNP
9g.77794458C>ACA2690385154GNAQc.735+5G>T (n.735+5G>T)
c.561+5G>T (n.561+5G>T)
 gnomAD v4
9g.77794458C>GCA2719851512GNAQc.735+5G>C (n.735+5G>C)
c.561+5G>C (n.561+5G>C)
 dbSNP
9g.77794458C>TCA2719851515GNAQc.735+5G>A (n.735+5G>A)
c.561+5G>A (n.561+5G>A)
 dbSNP
9g.77794459T>ACA2719851531GNAQc.735+4A>T (n.735+4A>T)
c.561+4A>T (n.561+4A>T)
 dbSNP
9g.77794460delCA2690385155GNAQc.735+4del (n.735+4del)
c.561+4del (n.561+4del)
 dbSNP gnomAD v4
9g.77794460T>CCA2579361429GNAQc.735+3A>G (n.735+3A>G)
c.561+3A>G (n.561+3A>G)
 gnomAD v4
9g.77794461A>CCA373997620GNAQc.735+2T>G (n.735+2T>G)
c.561+2T>G (n.561+2T>G)
9g.77794461A>GCA373997621GNAQc.735+2T>C (n.735+2T>C)
c.561+2T>C (n.561+2T>C)
 gnomAD v4
9g.77794461A>TCA373997622GNAQc.735+2T>A (n.735+2T>A)
c.561+2T>A (n.561+2T>A)
 dbSNP
9g.77794462C>ACA373997625GNAQc.735+1G>T (n.735+1G>T)
c.561+1G>T (n.561+1G>T)
 ClinVar dbSNP gnomAD v4
9g.77794462C>GCA373997623GNAQc.735+1G>C (n.735+1G>C)
c.561+1G>C (n.561+1G>C)
 dbSNP
9g.77794462C>TCA373997624GNAQc.735+1G>A (n.735+1G>A)
c.561+1G>A (n.561+1G>A)
 dbSNP gnomAD v4
9g.77794463C>ACA373997626GNAQc.735G>T (p.Glu245Asp)
c.561G>T (p.Glu187Asp)
 gnomAD v4
9g.77794463C>GCA373997627GNAQc.735G>C (p.Glu245Asp)
c.561G>C (p.Glu187Asp)
9g.77794463C>TCA465578285GNAQc.735G>A (p.Glu245=)
c.561G>A (p.Glu187=)
 gnomAD v4
9g.77794464T>ACA373997628GNAQc.734A>T (p.Glu245Val)
c.560A>T (p.Glu187Val)
 dbSNP gnomAD v4
9g.77794464T>CCA373997629GNAQc.734A>G (p.Glu245Gly)
c.560A>G (p.Glu187Gly)
 dbSNP gnomAD v4
9g.77794464T>GCA373997630GNAQc.734A>C (p.Glu245Ala)
c.560A>C (p.Glu187Ala)
9g.77794465C>ACA373997631GNAQc.733G>T (p.Glu245Ter)
c.559G>T (p.Glu187Ter)
 gnomAD v4
9g.77794465C>GCA373997632GNAQc.733G>C (p.Glu245Gln)
c.559G>C (p.Glu187Gln)
 dbSNP
9g.77794465C>TCA373997633GNAQc.733G>A (p.Glu245Lys)
c.559G>A (p.Glu187Lys)
 dbSNP
9g.77794466A=CA1857429340GNAQc.732T= (p.Asn244=)
c.558T= (p.Asn186=)
9g.77794466A>CCA373997634GNAQc.732T>G (p.Asn244Lys)
c.558T>G (p.Asn186Lys)
9g.77794466A>GCA465578286GNAQc.732T>C (p.Asn244=)
c.558T>C (p.Asn186=)
 dbSNP gnomAD v3 gnomAD v4
9g.77794466A>TCA373997635GNAQc.732T>A (p.Asn244Lys)
c.558T>A (p.Asn186Lys)
 dbSNP
9g.77794467T>ACA373997636GNAQc.731A>T (p.Asn244Ile)
c.557A>T (p.Asn186Ile)
 dbSNP
9g.77794467T>CCA5094584GNAQc.731A>G (p.Asn244Ser)
c.557A>G (p.Asn186Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.77794467T>GCA373997637GNAQc.731A>C (p.Asn244Thr)
c.557A>C (p.Asn186Thr)
9g.77794467T=CA1857429344GNAQc.731A= (p.Asn244=)
c.557A= (p.Asn186=)
9g.77794467_77794471delinsTTGTCCA1857429346GNAQc.727_731delinsGACAA (p.Asp243=)
c.553_557delinsGACAA (p.Asp185=)
9g.77794468T>ACA373997640GNAQc.730A>T (p.Asn244Tyr)
c.556A>T (p.Asn186Tyr)
 dbSNP
9g.77794468T>CCA373997639GNAQc.730A>G (p.Asn244Asp)
c.556A>G (p.Asn186Asp)
 gnomAD v4
9g.77794468T>GCA373997638GNAQc.730A>C (p.Asn244His)
c.556A>C (p.Asn186His)
9g.77794470_77794473delCA5094583GNAQc.727_730del (p.Asp243MetfsTer30)
c.553_556del (p.Asp185MetfsTer30)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.77794469G>ACA5094585GNAQc.729C>T (p.Asp243=)
c.555C>T (p.Asp185=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.77794469G>CCA373997641GNAQc.729C>G (p.Asp243Glu)
c.555C>G (p.Asp185Glu)
 dbSNP
9g.77794469G=CA1857429351GNAQc.729C= (p.Asp243=)
c.555C= (p.Asp185=)
9g.77794469G>TCA373997642GNAQc.729C>A (p.Asp243Glu)
c.555C>A (p.Asp185Glu)
 gnomAD v4
9g.77794470T>ACA373997643GNAQc.728A>T (p.Asp243Val)
c.554A>T (p.Asp185Val)
 dbSNP
9g.77794470T>CCA373997644GNAQc.728A>G (p.Asp243Gly)
c.554A>G (p.Asp185Gly)
 dbSNP
9g.77794470T>GCA373997645GNAQc.728A>C (p.Asp243Ala)
c.554A>C (p.Asp185Ala)
 dbSNP
9g.77794471C>ACA373997646GNAQc.727G>T (p.Asp243Tyr)
c.553G>T (p.Asp185Tyr)
 dbSNP
9g.77794471C>GCA373997647GNAQc.727G>C (p.Asp243His)
c.553G>C (p.Asp185His)
 dbSNP
9g.77794471C>TCA373997648GNAQc.727G>A (p.Asp243Asn)
c.553G>A (p.Asp185Asn)
 dbSNP
9g.77794472T>ACA465578287GNAQc.726A>T (p.Ser242=)
c.552A>T (p.Ser184=)
9g.77794472T>CCA465578288GNAQc.726A>G (p.Ser242=)
c.552A>G (p.Ser184=)
 dbSNP
9g.77794472T>GCA465578289GNAQc.726A>C (p.Ser242=)
c.552A>C (p.Ser184=)
9g.77794473G>ACA373997649GNAQc.725C>T (p.Ser242Leu)
c.551C>T (p.Ser184Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.77794473G>CCA373997650GNAQc.725C>G (p.Ser242Ter)
c.551C>G (p.Ser184Ter)
 dbSNP
9g.77794473G=CA1857429356GNAQc.725C= (p.Ser242=)
c.551C= (p.Ser184=)
9g.77794473G>TCA373997651GNAQc.725C>A (p.Ser242Ter)
c.551C>A (p.Ser184Ter)
 dbSNP gnomAD v4
9g.77794474A>CCA373997652GNAQc.724T>G (p.Ser242Ala)
c.550T>G (p.Ser184Ala)
 dbSNP
9g.77794474A>GCA373997654GNAQc.724T>C (p.Ser242Pro)
c.550T>C (p.Ser184Pro)
 dbSNP
9g.77794474A>TCA373997653GNAQc.724T>A (p.Ser242Thr)
c.550T>A (p.Ser184Thr)
 dbSNP
9g.77794475C>ACA373997655GNAQc.723G>T (p.Glu241Asp)
c.549G>T (p.Glu183Asp)
9g.77794475C>GCA373997656GNAQc.723G>C (p.Glu241Asp)
c.549G>C (p.Glu183Asp)
 dbSNP
9g.77794475C>TCA465578290GNAQc.723G>A (p.Glu241=)
c.549G>A (p.Glu183=)
9g.77794476T>ACA373997657GNAQc.722A>T (p.Glu241Val)
c.548A>T (p.Glu183Val)
9g.77794476T>CCA373997658GNAQc.722A>G (p.Glu241Gly)
c.548A>G (p.Glu183Gly)
9g.77794476T>GCA373997659GNAQc.722A>C (p.Glu241Ala)
c.548A>C (p.Glu183Ala)
9g.77794477C>ACA373997660GNAQc.721G>T (p.Glu241Ter)
c.547G>T (p.Glu183Ter)
 dbSNP
9g.77794477C>GCA373997661GNAQc.721G>C (p.Glu241Gln)
c.547G>C (p.Glu183Gln)
 dbSNP
9g.77794477C>TCA373997662GNAQc.721G>A (p.Glu241Lys)
c.547G>A (p.Glu183Lys)
 dbSNP
9g.77794478delCA2690385156GNAQc.721del (p.Glu241SerfsTer?)
c.547del (p.Glu183SerfsTer?)
 gnomAD v4
9g.77794478C>ACA465578291GNAQc.720G>T (p.Val240=)
c.546G>T (p.Val182=)
9g.77794478C>GCA465578292GNAQc.720G>C (p.Val240=)
c.546G>C (p.Val182=)
 dbSNP
9g.77794478C>TCA465578293GNAQc.720G>A (p.Val240=)
c.546G>A (p.Val182=)
 dbSNP gnomAD v4
9g.77794479A>CCA373997663GNAQc.719T>G (p.Val240Gly)
c.545T>G (p.Val182Gly)
 dbSNP
9g.77794479A>GCA373997664GNAQc.719T>C (p.Val240Ala)
c.545T>C (p.Val182Ala)
 gnomAD v4
9g.77794479A>TCA373997665GNAQc.719T>A (p.Val240Glu)
c.545T>A (p.Val182Glu)
 dbSNP
9g.77794480C>ACA373997666GNAQc.718G>T (p.Val240Leu)
c.544G>T (p.Val182Leu)
 dbSNP gnomAD v4
9g.77794480C=CA1857429363GNAQc.718G= (p.Val240=)
c.544G= (p.Val182=)
9g.77794480C>GCA373997667GNAQc.718G>C (p.Val240Leu)
c.544G>C (p.Val182Leu)
 dbSNP
9g.77794480C>TCA194717254GNAQc.718G>A (p.Val240Met)
c.544G>A (p.Val182Met)
 dbSNP gnomAD v3 gnomAD v4
9g.77794481G>ACA194717255GNAQc.717C>T (p.Leu239=)
c.543C>T (p.Leu181=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.77794481G>CCA465578294GNAQc.717C>G (p.Leu239=)
c.543C>G (p.Leu181=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.77794481G=CA1857429368GNAQc.717C= (p.Leu239=)
c.543C= (p.Leu181=)
9g.77794481G>TCA465578295GNAQc.717C>A (p.Leu239=)
c.543C>A (p.Leu181=)
 dbSNP gnomAD v4
9g.77794483_77794484dupCA2690385157GNAQc.716_717dup (p.Val240SerfsTer?)
c.542_543dup (p.Val182SerfsTer?)
 gnomAD v4
9g.77794482A>CCA373997670GNAQc.716T>G (p.Leu239Arg)
c.542T>G (p.Leu181Arg)
9g.77794482A>GCA373997668GNAQc.716T>C (p.Leu239Pro)
c.542T>C (p.Leu181Pro)
9g.77794482A>TCA373997669GNAQc.716T>A (p.Leu239His)
c.542T>A (p.Leu181His)
 dbSNP
9g.77794483G>ACA373997671GNAQc.715C>T (p.Leu239Phe)
c.541C>T (p.Leu181Phe)
 dbSNP
9g.77794483G>CCA373997672GNAQc.715C>G (p.Leu239Val)
c.541C>G (p.Leu181Val)
 dbSNP
9g.77794483G>TCA373997673GNAQc.715C>A (p.Leu239Ile)
c.541C>A (p.Leu181Ile)
 dbSNP gnomAD v4
9g.77794484A>CCA465578296GNAQc.714T>G (p.Val238=)
c.540T>G (p.Val180=)
9g.77794484A>GCA465578297GNAQc.714T>C (p.Val238=)
c.540T>C (p.Val180=)
9g.77794484A>TCA465578298GNAQc.714T>A (p.Val238=)
c.540T>A (p.Val180=)
 dbSNP
9g.77794485A=CA1857429373GNAQc.713T= (p.Val238=)
c.539T= (p.Val180=)
9g.77794485A>CCA373997674GNAQc.713T>G (p.Val238Gly)
c.539T>G (p.Val180Gly)
9g.77794485A>GCA373997675GNAQc.713T>C (p.Val238Ala)
c.539T>C (p.Val180Ala)
 dbSNP
9g.77794485A>TCA373997676GNAQc.713T>A (p.Val238Asp)
c.539T>A (p.Val180Asp)
 dbSNP
9g.77794486C>ACA373997677GNAQc.712G>T (p.Val238Phe)
c.538G>T (p.Val180Phe)
9g.77794486C>GCA373997678GNAQc.712G>C (p.Val238Leu)
c.538G>C (p.Val180Leu)
9g.77794486C>TCA373997679GNAQc.712G>A (p.Val238Ile)
c.538G>A (p.Val180Ile)
 dbSNP COSMIC
9g.77794487T>ACA373997680GNAQc.711A>T (p.Gln237His)
c.537A>T (p.Gln179His)
 dbSNP
9g.77794487T>CCA465578299GNAQc.711A>G (p.Gln237=)
c.537A>G (p.Gln179=)
 dbSNP gnomAD v4
9g.77794487T>GCA373997681GNAQc.711A>C (p.Gln237His)
c.537A>C (p.Gln179His)
9g.77794487T=CA1857429375GNAQc.711A= (p.Gln237=)
c.537A= (p.Gln179=)
9g.77794488T>ACA373997684GNAQc.710A>T (p.Gln237Leu)
c.536A>T (p.Gln179Leu)
 dbSNP
9g.77794488T>CCA373997683GNAQc.710A>G (p.Gln237Arg)
c.536A>G (p.Gln179Arg)
 dbSNP
9g.77794488T>GCA373997682GNAQc.710A>C (p.Gln237Pro)
c.536A>C (p.Gln179Pro)
9g.77794489G>ACA373997685GNAQc.709C>T (p.Gln237Ter)
c.535C>T (p.Gln179Ter)
 dbSNP
9g.77794489G>CCA373997686GNAQc.709C>G (p.Gln237Glu)
c.535C>G (p.Gln179Glu)
 dbSNP
9g.77794489G>TCA373997687GNAQc.709C>A (p.Gln237Lys)
c.535C>A (p.Gln179Lys)
 dbSNP gnomAD v4
9g.77794490A=CA1857429378GNAQc.708T= (p.Asp236=)
c.534T= (p.Asp178=)
9g.77794490A>CCA373997688GNAQc.708T>G (p.Asp236Glu)
c.534T>G (p.Asp178Glu)
 dbSNP gnomAD v4
9g.77794490A>GCA465578300GNAQc.708T>C (p.Asp236=)
c.534T>C (p.Asp178=)
9g.77794490A>TCA373997689GNAQc.708T>A (p.Asp236Glu)
c.534T>A (p.Asp178Glu)
 dbSNP gnomAD v3 gnomAD v4
9g.77794491T>ACA373997690GNAQc.707A>T (p.Asp236Val)
c.533A>T (p.Asp178Val)
 dbSNP
9g.77794491T>CCA373997691GNAQc.707A>G (p.Asp236Gly)
c.533A>G (p.Asp178Gly)
9g.77794491T>GCA373997692GNAQc.707A>C (p.Asp236Ala)
c.533A>C (p.Asp178Ala)
9g.77794492C>ACA373997693GNAQc.706G>T (p.Asp236Tyr)
c.532G>T (p.Asp178Tyr)
9g.77794492C>GCA373997694GNAQc.706G>C (p.Asp236His)
c.532G>C (p.Asp178His)
 dbSNP
9g.77794492C>TCA373997695GNAQc.706G>A (p.Asp236Asn)
c.532G>A (p.Asp178Asn)
 dbSNP
9g.77794493A=CA1857429381GNAQc.705T= (p.Tyr235=)
c.531T= (p.Tyr177=)
9g.77794493A>CCA373997696GNAQc.705T>G (p.Tyr235Ter)
c.531T>G (p.Tyr177Ter)
9g.77794493A>GCA465578301GNAQc.705T>C (p.Tyr235=)
c.531T>C (p.Tyr177=)
 ClinVar dbSNP
9g.77794493A>TCA373997697GNAQc.705T>A (p.Tyr235Ter)
c.531T>A (p.Tyr177Ter)
 dbSNP
9g.77794494T>ACA373997700GNAQc.704A>T (p.Tyr235Phe)
c.530A>T (p.Tyr177Phe)
 dbSNP
9g.77794494T>CCA373997698GNAQc.704A>G (p.Tyr235Cys)
c.530A>G (p.Tyr177Cys)
 dbSNP
9g.77794494T>GCA373997699GNAQc.704A>C (p.Tyr235Ser)
c.530A>C (p.Tyr177Ser)
9g.77794495A>CCA373997701GNAQc.703T>G (p.Tyr235Asp)
c.529T>G (p.Tyr177Asp)
 dbSNP
9g.77794495A>GCA373997702GNAQc.703T>C (p.Tyr235His)
c.529T>C (p.Tyr177His)
 dbSNP
9g.77794495A>TCA373997703GNAQc.703T>A (p.Tyr235Asn)
c.529T>A (p.Tyr177Asn)
 dbSNP
9g.77794496T>ACA373997704GNAQc.702A>T (p.Glu234Asp)
c.528A>T (p.Glu176Asp)
9g.77794496T>CCA5094586GNAQc.702A>G (p.Glu234=)
c.528A>G (p.Glu176=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.77794496T>GCA373997705GNAQc.702A>C (p.Glu234Asp)
c.528A>C (p.Glu176Asp)
9g.77794496T=CA1857429386GNAQc.702A= (p.Glu234=)
c.528A= (p.Glu176=)
9g.77794497T>ACA373997706GNAQc.701A>T (p.Glu234Val)
c.527A>T (p.Glu176Val)
9g.77794497T>CCA373997707GNAQc.701A>G (p.Glu234Gly)
c.527A>G (p.Glu176Gly)
9g.77794497T>GCA373997708GNAQc.701A>C (p.Glu234Ala)
c.527A>C (p.Glu176Ala)
9g.77794498C>ACA373997709GNAQc.700G>T (p.Glu234Ter)
c.526G>T (p.Glu176Ter)
 dbSNP gnomAD v4
9g.77794498C>GCA373997710GNAQc.700G>C (p.Glu234Gln)
c.526G>C (p.Glu176Gln)
 dbSNP
9g.77794498C>TCA373997711GNAQc.700G>A (p.Glu234Lys)
c.526G>A (p.Glu176Lys)
 dbSNP
9g.77794499A>CCA373997713GNAQc.699T>G (p.Ser233Arg)
c.525T>G (p.Ser175Arg)
9g.77794499A>GCA465578302GNAQc.699T>C (p.Ser233=)
c.525T>C (p.Ser175=)
9g.77794499A>TCA373997712GNAQc.699T>A (p.Ser233Arg)
c.525T>A (p.Ser175Arg)
 dbSNP
9g.77794500C>ACA373997714GNAQc.698G>T (p.Ser233Ile)
c.524G>T (p.Ser175Ile)
9g.77794500C>GCA373997716GNAQc.698G>C (p.Ser233Thr)
c.524G>C (p.Ser175Thr)
 dbSNP
9g.77794500C>TCA373997715GNAQc.698G>A (p.Ser233Asn)
c.524G>A (p.Ser175Asn)
 dbSNP
9g.77794501T>ACA373997717GNAQc.697A>T (p.Ser233Cys)
c.523A>T (p.Ser175Cys)
 dbSNP
9g.77794501T>CCA373997718GNAQc.697A>G (p.Ser233Gly)
c.523A>G (p.Ser175Gly)
9g.77794501T>GCA373997719GNAQc.697A>C (p.Ser233Arg)
c.523A>C (p.Ser175Arg)
9g.77794502A>CCA465578303GNAQc.696T>G (p.Leu232=)
c.522T>G (p.Leu174=)
 gnomAD v4
9g.77794502A>GCA465578305GNAQc.696T>C (p.Leu232=)
c.522T>C (p.Leu174=)
 dbSNP
9g.77794502A>TCA465578304GNAQc.696T>A (p.Leu232=)
c.522T>A (p.Leu174=)
 dbSNP gnomAD v4
9g.77794503A>CCA373997720GNAQc.695T>G (p.Leu232Arg)
c.521T>G (p.Leu174Arg)
9g.77794503A>GCA373997721GNAQc.695T>C (p.Leu232Pro)
c.521T>C (p.Leu174Pro)
9g.77794503A>TCA373997722GNAQc.695T>A (p.Leu232His)
c.521T>A (p.Leu174His)
 dbSNP
9g.77794504G>ACA373997723GNAQc.694C>T (p.Leu232Phe)
c.520C>T (p.Leu174Phe)
 dbSNP
9g.77794504G>CCA373997724GNAQc.694C>G (p.Leu232Val)
c.520C>G (p.Leu174Val)
 dbSNP
9g.77794504G>TCA373997725GNAQc.694C>A (p.Leu232Ile)
c.520C>A (p.Leu174Ile)
 dbSNP
9g.77794505C>ACA465578307GNAQc.693G>T (p.Ala231=)
c.519G>T (p.Ala173=)
 dbSNP
9g.77794505C=CA1857429391GNAQc.693G= (p.Ala231=)
c.519G= (p.Ala173=)
9g.77794505C>GCA465578306GNAQc.693G>C (p.Ala231=)
c.519G>C (p.Ala173=)
 dbSNP
9g.77794505C>TCA5094587GNAQc.693G>A (p.Ala231=)
c.519G>A (p.Ala173=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.77794506G>ACA373997726GNAQc.692C>T (p.Ala231Val)
c.518C>T (p.Ala173Val)
 dbSNP gnomAD v4
9g.77794506G>CCA373997727GNAQc.692C>G (p.Ala231Gly)
c.518C>G (p.Ala173Gly)
 dbSNP
9g.77794506G=CA1857429393GNAQc.692C= (p.Ala231=)
c.518C= (p.Ala173=)
9g.77794506G>TCA373997728GNAQc.692C>A (p.Ala231Glu)
c.518C>A (p.Ala173Glu)
 dbSNP gnomAD v4
9g.77794507C>ACA373997729GNAQc.691G>T (p.Ala231Ser)
c.517G>T (p.Ala173Ser)
 dbSNP
9g.77794507C>GCA373997731GNAQc.691G>C (p.Ala231Pro)
c.517G>C (p.Ala173Pro)
 dbSNP
9g.77794507C>TCA373997730GNAQc.691G>A (p.Ala231Thr)
c.517G>A (p.Ala173Thr)
 dbSNP
9g.77794508T>ACA465578308GNAQc.690A>T (p.Val230=)
c.516A>T (p.Val172=)
 dbSNP
9g.77794508T>CCA465578310GNAQc.690A>G (p.Val230=)
c.516A>G (p.Val172=)
 dbSNP
9g.77794508T>GCA465578309GNAQc.690A>C (p.Val230=)
c.516A>C (p.Val172=)
 gnomAD v4
9g.77794509A>CCA373997732GNAQc.689T>G (p.Val230Gly)
c.515T>G (p.Val172Gly)
 dbSNP
9g.77794509A>GCA373997733GNAQc.689T>C (p.Val230Ala)
c.515T>C (p.Val172Ala)
9g.77794509A>TCA373997734GNAQc.689T>A (p.Val230Glu)
c.515T>A (p.Val172Glu)
 dbSNP
9g.77794510C>ACA373997735GNAQc.688G>T (p.Val230Leu)
c.514G>T (p.Val172Leu)
 dbSNP
9g.77794510C=CA1857429398GNAQc.688G= (p.Val230=)
c.514G= (p.Val172=)
9g.77794510C>GCA373997736GNAQc.688G>C (p.Val230Leu)
c.514G>C (p.Val172Leu)
 dbSNP
9g.77794510C>TCA373997737GNAQc.688G>A (p.Val230Ile)
c.514G>A (p.Val172Ile)
 dbSNP
9g.77794511T>ACA5094589GNAQc.687A>T (p.Leu229=)
c.513A>T (p.Leu171=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.77794511T>CCA5094588GNAQc.687A>G (p.Leu229=)
c.513A>G (p.Leu171=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.77794511T>GCA465578311GNAQc.687A>C (p.Leu229=)
c.513A>C (p.Leu171=)
9g.77794511T=CA1857429405GNAQc.687A= (p.Leu229=)
c.513A= (p.Leu171=)
9g.77794512A>CCA373997738GNAQc.686T>G (p.Leu229Arg)
c.512T>G (p.Leu171Arg)
9g.77794512A>GCA373997739GNAQc.686T>C (p.Leu229Pro)
c.512T>C (p.Leu171Pro)
9g.77794512A>TCA373997740GNAQc.686T>A (p.Leu229Gln)
c.512T>A (p.Leu171Gln)
 dbSNP
9g.77794513G>ACA465578312GNAQc.685C>T (p.Leu229=)
c.511C>T (p.Leu171=)
 dbSNP
9g.77794513G>CCA373997742GNAQc.685C>G (p.Leu229Val)
c.511C>G (p.Leu171Val)
9g.77794513G>TCA373997741GNAQc.685C>A (p.Leu229Ile)
c.511C>A (p.Leu171Ile)
 dbSNP
9g.77794514A>CCA373997743GNAQc.684T>G (p.Phe228Leu)
c.510T>G (p.Phe170Leu)
9g.77794514A>GCA465578313GNAQc.684T>C (p.Phe228=)
c.510T>C (p.Phe170=)
9g.77794514A>TCA373997744GNAQc.684T>A (p.Phe228Leu)
c.510T>A (p.Phe170Leu)
9g.77794515A>CCA373997745GNAQc.683T>G (p.Phe228Cys)
c.509T>G (p.Phe170Cys)
 COSMIC
9g.77794515A>GCA373997746GNAQc.683T>C (p.Phe228Ser)
c.509T>C (p.Phe170Ser)
 dbSNP
9g.77794515A>TCA373997747GNAQc.683T>A (p.Phe228Tyr)
c.509T>A (p.Phe170Tyr)
9g.77794516A>CCA373997750GNAQc.682T>G (p.Phe228Val)
c.508T>G (p.Phe170Val)
 dbSNP
9g.77794516A>GCA373997749GNAQc.682T>C (p.Phe228Leu)
c.508T>C (p.Phe170Leu)
9g.77794516A>TCA373997748GNAQc.682T>A (p.Phe228Ile)
c.508T>A (p.Phe170Ile)
 dbSNP
9g.77794517C>ACA373997751GNAQc.681G>T (p.Met227Ile)
c.507G>T (p.Met169Ile)
 dbSNP
9g.77794517C>GCA373997752GNAQc.681G>C (p.Met227Ile)
c.507G>C (p.Met169Ile)
 dbSNP
9g.77794517C>TCA373997753GNAQc.681G>A (p.Met227Ile)
c.507G>A (p.Met169Ile)
 dbSNP
9g.77794518A>CCA373997754GNAQc.680T>G (p.Met227Arg)
c.506T>G (p.Met169Arg)
9g.77794518A>GCA373997755GNAQc.680T>C (p.Met227Thr)
c.506T>C (p.Met169Thr)
 gnomAD v4
9g.77794518A>TCA373997756GNAQc.680T>A (p.Met227Lys)
c.506T>A (p.Met169Lys)
 dbSNP
9g.77794519T>ACA373997759GNAQc.679A>T (p.Met227Leu)
c.505A>T (p.Met169Leu)
 dbSNP
9g.77794519T>CCA373997757GNAQc.679A>G (p.Met227Val)
c.505A>G (p.Met169Val)
 dbSNP
9g.77794519T>GCA373997758GNAQc.679A>C (p.Met227Leu)
c.505A>C (p.Met169Leu)

Number of alleles fetched