Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101761515G>CCA2058952851GNPTABc.2915+49C>G (n.2915+49C>G)
c.2834+49C>G (n.2834+49C>G)
c.2699+49C>G (n.2699+49C>G)
c.1688+49C>G (n.1688+49C>G)
 dbSNP gnomAD v4
12g.101761515G=CA2058952849GNPTABc.2915+49C= (n.2915+49C=)
c.2834+49C= (n.2834+49C=)
c.2699+49C= (n.2699+49C=)
c.1688+49C= (n.1688+49C=)
12g.101761515G>TCA2575264935GNPTABc.2915+49C>A (n.2915+49C>A)
c.2834+49C>A (n.2834+49C>A)
c.2699+49C>A (n.2699+49C>A)
c.1688+49C>A (n.1688+49C>A)
 gnomAD v4
12g.101761516C>ACA2058952854GNPTABc.2915+48G>T (n.2915+48G>T)
c.2834+48G>T (n.2834+48G>T)
c.2699+48G>T (n.2699+48G>T)
c.1688+48G>T (n.1688+48G>T)
 dbSNP
12g.101761516C=CA2058952853GNPTABc.2915+48G= (n.2915+48G=)
c.2834+48G= (n.2834+48G=)
c.2699+48G= (n.2699+48G=)
c.1688+48G= (n.1688+48G=)
12g.101761516C>GCA2575264936GNPTABc.2915+48G>C (n.2915+48G>C)
c.2834+48G>C (n.2834+48G>C)
c.2699+48G>C (n.2699+48G>C)
c.1688+48G>C (n.1688+48G>C)
12g.101761516C>TCA2058952856GNPTABc.2915+48G>A (n.2915+48G>A)
c.2834+48G>A (n.2834+48G>A)
c.2699+48G>A (n.2699+48G>A)
c.1688+48G>A (n.1688+48G>A)
 dbSNP gnomAD v4
12g.101761517C>ACA242454225GNPTABc.2915+47G>T (n.2915+47G>T)
c.2834+47G>T (n.2834+47G>T)
c.2699+47G>T (n.2699+47G>T)
c.1688+47G>T (n.1688+47G>T)
 dbSNP
12g.101761517C=CA2058952859GNPTABc.2915+47G= (n.2915+47G=)
c.2834+47G= (n.2834+47G=)
c.2699+47G= (n.2699+47G=)
c.1688+47G= (n.1688+47G=)
12g.101761517C>GCA654946630GNPTABc.2915+47G>C (n.2915+47G>C)
c.2834+47G>C (n.2834+47G>C)
c.2699+47G>C (n.2699+47G>C)
c.1688+47G>C (n.1688+47G>C)
 COSMIC
12g.101761518T>ACA2620428744GNPTABc.2915+46A>T (n.2915+46A>T)
c.2834+46A>T (n.2834+46A>T)
c.2699+46A>T (n.2699+46A>T)
c.1688+46A>T (n.1688+46A>T)
 gnomAD v4
12g.101761519T>CCA2575264937GNPTABc.2915+45A>G (n.2915+45A>G)
c.2834+45A>G (n.2834+45A>G)
c.2699+45A>G (n.2699+45A>G)
c.1688+45A>G (n.1688+45A>G)
12g.101761520A>CCA654946642GNPTABc.2915+44T>G (n.2915+44T>G)
c.2834+44T>G (n.2834+44T>G)
c.2699+44T>G (n.2699+44T>G)
c.1688+44T>G (n.1688+44T>G)
 COSMIC COSMIC
12g.101761522T>GCA6746317GNPTABc.2915+42A>C (n.2915+42A>C)
c.2834+42A>C (n.2834+42A>C)
c.2699+42A>C (n.2699+42A>C)
c.1688+42A>C (n.1688+42A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761522T=CA2058952863GNPTABc.2915+42A= (n.2915+42A=)
c.2834+42A= (n.2834+42A=)
c.2699+42A= (n.2699+42A=)
c.1688+42A= (n.1688+42A=)
12g.101761524C=CA2058952865GNPTABc.2915+40G= (n.2915+40G=)
c.2834+40G= (n.2834+40G=)
c.2699+40G= (n.2699+40G=)
c.1688+40G= (n.1688+40G=)
12g.101761524C>GCA2575264938GNPTABc.2915+40G>C (n.2915+40G>C)
c.2834+40G>C (n.2834+40G>C)
c.2699+40G>C (n.2699+40G>C)
c.1688+40G>C (n.1688+40G>C)
 gnomAD v4
12g.101761524C>TCA607597783GNPTABc.2915+40G>A (n.2915+40G>A)
c.2834+40G>A (n.2834+40G>A)
c.2699+40G>A (n.2699+40G>A)
c.1688+40G>A (n.1688+40G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101761526G>TCA2575264939GNPTABc.2915+38C>A (n.2915+38C>A)
c.2834+38C>A (n.2834+38C>A)
c.2699+38C>A (n.2699+38C>A)
c.1688+38C>A (n.1688+38C>A)
12g.101761527A=CA2058952867GNPTABc.2915+37T= (n.2915+37T=)
c.2834+37T= (n.2834+37T=)
c.2699+37T= (n.2699+37T=)
c.1688+37T= (n.1688+37T=)
12g.101761527A>GCA682783803GNPTABc.2915+37T>C (n.2915+37T>C)
c.2834+37T>C (n.2834+37T>C)
c.2699+37T>C (n.2699+37T>C)
c.1688+37T>C (n.1688+37T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.101761529C>ACA2620428745GNPTABc.2915+35G>T (n.2915+35G>T)
c.2834+35G>T (n.2834+35G>T)
c.2699+35G>T (n.2699+35G>T)
c.1688+35G>T (n.1688+35G>T)
 gnomAD v4
12g.101761530A>GCA2620428746GNPTABc.2915+34T>C (n.2915+34T>C)
c.2834+34T>C (n.2834+34T>C)
c.2699+34T>C (n.2699+34T>C)
c.1688+34T>C (n.1688+34T>C)
 gnomAD v4
12g.101761532A>CCA2620428747GNPTABc.2915+32T>G (n.2915+32T>G)
c.2834+32T>G (n.2834+32T>G)
c.2699+32T>G (n.2699+32T>G)
c.1688+32T>G (n.1688+32T>G)
 gnomAD v4
12g.101761534G>CCA2620428748GNPTABc.2915+30C>G (n.2915+30C>G)
c.2834+30C>G (n.2834+30C>G)
c.2699+30C>G (n.2699+30C>G)
c.1688+30C>G (n.1688+30C>G)
 gnomAD v4
12g.101761534G>TCA2620428749GNPTABc.2915+30C>A (n.2915+30C>A)
c.2834+30C>A (n.2834+30C>A)
c.2699+30C>A (n.2699+30C>A)
c.1688+30C>A (n.1688+30C>A)
 gnomAD v4
12g.101761535C>ACA2797209818GNPTABc.2915+29G>T (n.2915+29G>T)
c.2834+29G>T (n.2834+29G>T)
c.2699+29G>T (n.2699+29G>T)
c.1688+29G>T (n.1688+29G>T)
12g.101761536A>GCA2620428750GNPTABc.2915+28T>C (n.2915+28T>C)
c.2834+28T>C (n.2834+28T>C)
c.2699+28T>C (n.2699+28T>C)
c.1688+28T>C (n.1688+28T>C)
 gnomAD v4
12g.101761538A>CCA2620428751GNPTABc.2915+26T>G (n.2915+26T>G)
c.2834+26T>G (n.2834+26T>G)
c.2699+26T>G (n.2699+26T>G)
c.1688+26T>G (n.1688+26T>G)
 gnomAD v4
12g.101761539C=CA2058952870GNPTABc.2915+25G= (n.2915+25G=)
c.2834+25G= (n.2834+25G=)
c.2699+25G= (n.2699+25G=)
c.1688+25G= (n.1688+25G=)
12g.101761539C>GCA2058952871GNPTABc.2915+25G>C (n.2915+25G>C)
c.2834+25G>C (n.2834+25G>C)
c.2699+25G>C (n.2699+25G>C)
c.1688+25G>C (n.1688+25G>C)
 dbSNP gnomAD v4
12g.101761539_101761540delinsCACA2058952869GNPTABc.2915+24_2915+25delinsTG (n.2915+24_2915+25delinsTG)
c.2834+24_2834+25delinsTG (n.2834+24_2834+25delinsTG)
c.2699+24_2699+25delinsTG (n.2699+24_2699+25delinsTG)
c.1688+24_1688+25delinsTG (n.1688+24_1688+25delinsTG)
12g.101761540A>GCA2620428752GNPTABc.2915+24T>C (n.2915+24T>C)
c.2834+24T>C (n.2834+24T>C)
c.2699+24T>C (n.2699+24T>C)
c.1688+24T>C (n.1688+24T>C)
 gnomAD v4
12g.101761541delCA682783815GNPTABc.2915+24del (n.2915+24del)
c.2834+24del (n.2834+24del)
c.2699+24del (n.2699+24del)
c.1688+24del (n.1688+24del)
 dbSNP gnomAD v3 gnomAD v4
12g.101761541A>CCA2620428753GNPTABc.2915+23T>G (n.2915+23T>G)
c.2834+23T>G (n.2834+23T>G)
c.2699+23T>G (n.2699+23T>G)
c.1688+23T>G (n.1688+23T>G)
 gnomAD v4
12g.101761541A>TCA2620428754GNPTABc.2915+23T>A (n.2915+23T>A)
c.2834+23T>A (n.2834+23T>A)
c.2699+23T>A (n.2699+23T>A)
c.1688+23T>A (n.1688+23T>A)
 gnomAD v4
12g.101761542C>TCA2727003125GNPTABc.2915+22G>A (n.2915+22G>A)
c.2834+22G>A (n.2834+22G>A)
c.2699+22G>A (n.2699+22G>A)
c.1688+22G>A (n.1688+22G>A)
 dbSNP
12g.101761544C=CA2058952875GNPTABc.2915+20G= (n.2915+20G=)
c.2834+20G= (n.2834+20G=)
c.2699+20G= (n.2699+20G=)
c.1688+20G= (n.1688+20G=)
12g.101761544C>GCA2797209819GNPTABc.2915+20G>C (n.2915+20G>C)
c.2834+20G>C (n.2834+20G>C)
c.2699+20G>C (n.2699+20G>C)
c.1688+20G>C (n.1688+20G>C)
12g.101761544C>TCA607597784GNPTABc.2915+20G>A (n.2915+20G>A)
c.2834+20G>A (n.2834+20G>A)
c.2699+20G>A (n.2699+20G>A)
c.1688+20G>A (n.1688+20G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101761544_101761545delinsCACA2058952873GNPTABc.2915+19_2915+20delinsTG (n.2915+19_2915+20delinsTG)
c.2834+19_2834+20delinsTG (n.2834+19_2834+20delinsTG)
c.2699+19_2699+20delinsTG (n.2699+19_2699+20delinsTG)
c.1688+19_1688+20delinsTG (n.1688+19_1688+20delinsTG)
12g.101761547delCA607597785GNPTABc.2915+19del (n.2915+19del)
c.2834+19del (n.2834+19del)
c.2699+19del (n.2699+19del)
c.1688+19del (n.1688+19del)
 dbSNP gnomAD v2 gnomAD v4
12g.101761548C>ACA2058952878GNPTABc.2915+16G>T (n.2915+16G>T)
c.2834+16G>T (n.2834+16G>T)
c.2699+16G>T (n.2699+16G>T)
c.1688+16G>T (n.1688+16G>T)
 ClinVar dbSNP gnomAD v4
12g.101761548C=CA2058952877GNPTABc.2915+16G= (n.2915+16G=)
c.2834+16G= (n.2834+16G=)
c.2699+16G= (n.2699+16G=)
c.1688+16G= (n.1688+16G=)
12g.101761549A=CA2058952880GNPTABc.2915+15T= (n.2915+15T=)
c.2834+15T= (n.2834+15T=)
c.2699+15T= (n.2699+15T=)
c.1688+15T= (n.1688+15T=)
12g.101761549A>GCA6746318GNPTABc.2915+15T>C (n.2915+15T>C)
c.2834+15T>C (n.2834+15T>C)
c.2699+15T>C (n.2699+15T>C)
c.1688+15T>C (n.1688+15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761550C=CA2058952882GNPTABc.2915+14G= (n.2915+14G=)
c.2834+14G= (n.2834+14G=)
c.2699+14G= (n.2699+14G=)
c.1688+14G= (n.1688+14G=)
12g.101761550C>GCA2580085674GNPTABc.2915+14G>C (n.2915+14G>C)
c.2834+14G>C (n.2834+14G>C)
c.2699+14G>C (n.2699+14G>C)
c.1688+14G>C (n.1688+14G>C)
 ClinVar
12g.101761550C>TCA6746319GNPTABc.2915+14G>A (n.2915+14G>A)
c.2834+14G>A (n.2834+14G>A)
c.2699+14G>A (n.2699+14G>A)
c.1688+14G>A (n.1688+14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761551G>ACA6746320GNPTABc.2915+13C>T (n.2915+13C>T)
c.2834+13C>T (n.2834+13C>T)
c.2699+13C>T (n.2699+13C>T)
c.1688+13C>T (n.1688+13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761551G=CA2058952885GNPTABc.2915+13C= (n.2915+13C=)
c.2834+13C= (n.2834+13C=)
c.2699+13C= (n.2699+13C=)
c.1688+13C= (n.1688+13C=)
12g.101761553G>ACA2058952890GNPTABc.2915+11C>T (n.2915+11C>T)
c.2834+11C>T (n.2834+11C>T)
c.2699+11C>T (n.2699+11C>T)
c.1688+11C>T (n.1688+11C>T)
 dbSNP
12g.101761553G>CCA607597786GNPTABc.2915+11C>G (n.2915+11C>G)
c.2834+11C>G (n.2834+11C>G)
c.2699+11C>G (n.2699+11C>G)
c.1688+11C>G (n.1688+11C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101761553G=CA2058952889GNPTABc.2915+11C= (n.2915+11C=)
c.2834+11C= (n.2834+11C=)
c.2699+11C= (n.2699+11C=)
c.1688+11C= (n.1688+11C=)
12g.101761554_101761560delinsCAAGACTCA2058952894GNPTABc.2915+4_2915+10delinsAGTCTTG (n.2915+4_2915+10delinsAGTCTTG)
c.2834+4_2834+10delinsAGTCTTG (n.2834+4_2834+10delinsAGTCTTG)
c.2699+4_2699+10delinsAGTCTTG (n.2699+4_2699+10delinsAGTCTTG)
c.1688+4_1688+10delinsAGTCTTG (n.1688+4_1688+10delinsAGTCTTG)
12g.101761555_101761560delCA1139662827GNPTABc.2915+4_2915+9del (n.2915+4_2915+9del)
c.2834+4_2834+9del (n.2834+4_2834+9del)
c.2699+4_2699+9del (n.2699+4_2699+9del)
c.1688+4_1688+9del (n.1688+4_1688+9del)
 ClinVar dbSNP
12g.101761557G>ACA607597787GNPTABc.2915+7C>T (n.2915+7C>T)
c.2834+7C>T (n.2834+7C>T)
c.2699+7C>T (n.2699+7C>T)
c.1688+7C>T (n.1688+7C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101761557G>CCA607597788GNPTABc.2915+7C>G (n.2915+7C>G)
c.2834+7C>G (n.2834+7C>G)
c.2699+7C>G (n.2699+7C>G)
c.1688+7C>G (n.1688+7C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101761557G=CA2058952899GNPTABc.2915+7C= (n.2915+7C=)
c.2834+7C= (n.2834+7C=)
c.2699+7C= (n.2699+7C=)
c.1688+7C= (n.1688+7C=)
12g.101761559C=CA2058952902GNPTABc.2915+5G= (n.2915+5G=)
c.2834+5G= (n.2834+5G=)
c.2699+5G= (n.2699+5G=)
c.1688+5G= (n.1688+5G=)
12g.101761559C>GCA6746321GNPTABc.2915+5G>C (n.2915+5G>C)
c.2834+5G>C (n.2834+5G>C)
c.2699+5G>C (n.2699+5G>C)
c.1688+5G>C (n.1688+5G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761559C>TCA2620428755GNPTABc.2915+5G>A (n.2915+5G>A)
c.2834+5G>A (n.2834+5G>A)
c.2699+5G>A (n.2699+5G>A)
c.1688+5G>A (n.1688+5G>A)
 gnomAD v4
12g.101761560T>GCA607597789GNPTABc.2915+4A>C (n.2915+4A>C)
c.2834+4A>C (n.2834+4A>C)
c.2699+4A>C (n.2699+4A>C)
c.1688+4A>C (n.1688+4A>C)
 dbSNP gnomAD v2 gnomAD v4
12g.101761560T=CA2058952904GNPTABc.2915+4A= (n.2915+4A=)
c.2834+4A= (n.2834+4A=)
c.2699+4A= (n.2699+4A=)
c.1688+4A= (n.1688+4A=)
12g.101761562A>CCA386296070GNPTABc.2915+2T>G (n.2915+2T>G)
c.2834+2T>G (n.2834+2T>G)
c.2699+2T>G (n.2699+2T>G)
c.1688+2T>G (n.1688+2T>G)
12g.101761562A>GCA386296071GNPTABc.2915+2T>C (n.2915+2T>C)
c.2834+2T>C (n.2834+2T>C)
c.2699+2T>C (n.2699+2T>C)
c.1688+2T>C (n.1688+2T>C)
12g.101761562A>TCA386296072GNPTABc.2915+2T>A (n.2915+2T>A)
c.2834+2T>A (n.2834+2T>A)
c.2699+2T>A (n.2699+2T>A)
c.1688+2T>A (n.1688+2T>A)
12g.101761562dupCA2620428756GNPTABc.2915+2dup (n.2915+2dup)
c.2834+2dup (n.2834+2dup)
c.2699+2dup (n.2699+2dup)
c.1688+2dup (n.1688+2dup)
 gnomAD v4
12g.101761562_101761563delinsACCA2058952906GNPTABc.2915+1_2915+2delinsGT (n.2915+1_2915+2delinsGT)
c.2834+1_2834+2delinsGT (n.2834+1_2834+2delinsGT)
c.2699+1_2699+2delinsGT (n.2699+1_2699+2delinsGT)
c.1688+1_1688+2delinsGT (n.1688+1_1688+2delinsGT)
12g.101761563delCA607597790GNPTABc.2915+1del (n.2915+1del)
c.2834+1del (n.2834+1del)
c.2699+1del (n.2699+1del)
c.1688+1del (n.1688+1del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101761563C>ACA386296073GNPTABc.2915+1G>T (n.2915+1G>T)
c.2834+1G>T (n.2834+1G>T)
c.2699+1G>T (n.2699+1G>T)
c.1688+1G>T (n.1688+1G>T)
12g.101761563C=CA2058952913GNPTABc.2915+1G= (n.2915+1G=)
c.2834+1G= (n.2834+1G=)
c.2699+1G= (n.2699+1G=)
c.1688+1G= (n.1688+1G=)
12g.101761563C>GCA386296074GNPTABc.2915+1G>C (n.2915+1G>C)
c.2834+1G>C (n.2834+1G>C)
c.2699+1G>C (n.2699+1G>C)
c.1688+1G>C (n.1688+1G>C)
12g.101761563C>TCA386296075GNPTABc.2915+1G>A (n.2915+1G>A)
c.2834+1G>A (n.2834+1G>A)
c.2699+1G>A (n.2699+1G>A)
c.1688+1G>A (n.1688+1G>A)
 ClinVar dbSNP
12g.101761564A=CA2058952922GNPTABc.2915T= (p.Met972=)
c.2834T= (p.Met945=)
c.2699T= (p.Met900=)
c.1688T= (p.Met563=)
12g.101761564A>CCA386296076GNPTABc.2915T>G (p.Met972Arg)
c.2834T>G (p.Met945Arg)
c.2699T>G (p.Met900Arg)
c.1688T>G (p.Met563Arg)
 gnomAD v4
12g.101761564A>GCA386296077GNPTABc.2915T>C (p.Met972Thr)
c.2834T>C (p.Met945Thr)
c.2699T>C (p.Met900Thr)
c.1688T>C (p.Met563Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101761564A>TCA386296078GNPTABc.2915T>A (p.Met972Lys)
c.2834T>A (p.Met945Lys)
c.2699T>A (p.Met900Lys)
c.1688T>A (p.Met563Lys)
12g.101761564dupCA2695217201GNPTABc.2915dup (p.Met972IlefsTer4)
c.2834dup (p.Met945IlefsTer4)
c.2699dup (p.Met900IlefsTer4)
c.1688dup (p.Met563IlefsTer4)
12g.101761565T>ACA386296079GNPTABc.2914A>T (p.Met972Leu)
c.2833A>T (p.Met945Leu)
c.2698A>T (p.Met900Leu)
c.1687A>T (p.Met563Leu)
12g.101761565T>CCA386296080GNPTABc.2914A>G (p.Met972Val)
c.2833A>G (p.Met945Val)
c.2698A>G (p.Met900Val)
c.1687A>G (p.Met563Val)
 dbSNP gnomAD v4
12g.101761565T>GCA386296081GNPTABc.2914A>C (p.Met972Leu)
c.2833A>C (p.Met945Leu)
c.2698A>C (p.Met900Leu)
c.1687A>C (p.Met563Leu)
12g.101761565T=CA2058952925GNPTABc.2914A= (p.Met972=)
c.2833A= (p.Met945=)
c.2698A= (p.Met900=)
c.1687A= (p.Met563=)
12g.101761566A=CA2058952930GNPTABc.2913T= (p.Asp971=)
c.2832T= (p.Asp944=)
c.2697T= (p.Asp899=)
c.1686T= (p.Asp562=)
12g.101761566A>CCA386296083GNPTABc.2913T>G (p.Asp971Glu)
c.2832T>G (p.Asp944Glu)
c.2697T>G (p.Asp899Glu)
c.1686T>G (p.Asp562Glu)
12g.101761566A>GCA242454234GNPTABc.2913T>C (p.Asp971=)
c.2832T>C (p.Asp944=)
c.2697T>C (p.Asp899=)
c.1686T>C (p.Asp562=)
 ClinVar dbSNP gnomAD v4
12g.101761566A>TCA386296082GNPTABc.2913T>A (p.Asp971Glu)
c.2832T>A (p.Asp944Glu)
c.2697T>A (p.Asp899Glu)
c.1686T>A (p.Asp562Glu)
12g.101761567T>ACA386296084GNPTABc.2912A>T (p.Asp971Val)
c.2831A>T (p.Asp944Val)
c.2696A>T (p.Asp899Val)
c.1685A>T (p.Asp562Val)
12g.101761567T>CCA386296086GNPTABc.2912A>G (p.Asp971Gly)
c.2831A>G (p.Asp944Gly)
c.2696A>G (p.Asp899Gly)
c.1685A>G (p.Asp562Gly)
 gnomAD v4
12g.101761567T>GCA386296085GNPTABc.2912A>C (p.Asp971Ala)
c.2831A>C (p.Asp944Ala)
c.2696A>C (p.Asp899Ala)
c.1685A>C (p.Asp562Ala)
12g.101761568C>ACA386296087GNPTABc.2911G>T (p.Asp971Tyr)
c.2830G>T (p.Asp944Tyr)
c.2695G>T (p.Asp899Tyr)
c.1684G>T (p.Asp562Tyr)
12g.101761568C>GCA386296088GNPTABc.2911G>C (p.Asp971His)
c.2830G>C (p.Asp944His)
c.2695G>C (p.Asp899His)
c.1684G>C (p.Asp562His)
12g.101761568C>TCA386296089GNPTABc.2911G>A (p.Asp971Asn)
c.2830G>A (p.Asp944Asn)
c.2695G>A (p.Asp899Asn)
c.1684G>A (p.Asp562Asn)
12g.101761569T>ACA386296090GNPTABc.2910A>T (p.Gln970His)
c.2829A>T (p.Gln943His)
c.2694A>T (p.Gln898His)
c.1683A>T (p.Gln561His)
12g.101761569T>CCA481576664GNPTABc.2910A>G (p.Gln970=)
c.2829A>G (p.Gln943=)
c.2694A>G (p.Gln898=)
c.1683A>G (p.Gln561=)
12g.101761569T>GCA386296091GNPTABc.2910A>C (p.Gln970His)
c.2829A>C (p.Gln943His)
c.2694A>C (p.Gln898His)
c.1683A>C (p.Gln561His)
12g.101761570T>ACA386296092GNPTABc.2909A>T (p.Gln970Leu)
c.2828A>T (p.Gln943Leu)
c.2693A>T (p.Gln898Leu)
c.1682A>T (p.Gln561Leu)
12g.101761570T>CCA386296093GNPTABc.2909A>G (p.Gln970Arg)
c.2828A>G (p.Gln943Arg)
c.2693A>G (p.Gln898Arg)
c.1682A>G (p.Gln561Arg)
12g.101761570T>GCA386296094GNPTABc.2909A>C (p.Gln970Pro)
c.2828A>C (p.Gln943Pro)
c.2693A>C (p.Gln898Pro)
c.1682A>C (p.Gln561Pro)
12g.101761571G>ACA386296095GNPTABc.2908C>T (p.Gln970Ter)
c.2827C>T (p.Gln943Ter)
c.2692C>T (p.Gln898Ter)
c.1681C>T (p.Gln561Ter)
 ClinVar dbSNP
12g.101761571G>CCA386296096GNPTABc.2908C>G (p.Gln970Glu)
c.2827C>G (p.Gln943Glu)
c.2692C>G (p.Gln898Glu)
c.1681C>G (p.Gln561Glu)
12g.101761571G=CA2058952934GNPTABc.2908C= (p.Gln970=)
c.2827C= (p.Gln943=)
c.2692C= (p.Gln898=)
c.1681C= (p.Gln561=)
12g.101761571G>TCA386296097GNPTABc.2908C>A (p.Gln970Lys)
c.2827C>A (p.Gln943Lys)
c.2692C>A (p.Gln898Lys)
c.1681C>A (p.Gln561Lys)
 gnomAD v4
12g.101761572C>ACA6746322GNPTABc.2907G>T (p.Leu969=)
c.2826G>T (p.Leu942=)
c.2691G>T (p.Leu897=)
c.1680G>T (p.Leu560=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761572C=CA2058952938GNPTABc.2907G= (p.Leu969=)
c.2826G= (p.Leu942=)
c.2691G= (p.Leu897=)
c.1680G= (p.Leu560=)
12g.101761572C>GCA481576666GNPTABc.2907G>C (p.Leu969=)
c.2826G>C (p.Leu942=)
c.2691G>C (p.Leu897=)
c.1680G>C (p.Leu560=)
12g.101761572C>TCA481576665GNPTABc.2907G>A (p.Leu969=)
c.2826G>A (p.Leu942=)
c.2691G>A (p.Leu897=)
c.1680G>A (p.Leu560=)
 ClinVar
12g.101761573A>CCA386296100GNPTABc.2906T>G (p.Leu969Arg)
c.2825T>G (p.Leu942Arg)
c.2690T>G (p.Leu897Arg)
c.1679T>G (p.Leu560Arg)
12g.101761573A>GCA386296098GNPTABc.2906T>C (p.Leu969Pro)
c.2825T>C (p.Leu942Pro)
c.2690T>C (p.Leu897Pro)
c.1679T>C (p.Leu560Pro)
 gnomAD v4
12g.101761573A>TCA386296099GNPTABc.2906T>A (p.Leu969Gln)
c.2825T>A (p.Leu942Gln)
c.2690T>A (p.Leu897Gln)
c.1679T>A (p.Leu560Gln)
12g.101761574G>ACA481576667GNPTABc.2905C>T (p.Leu969=)
c.2824C>T (p.Leu942=)
c.2689C>T (p.Leu897=)
c.1678C>T (p.Leu560=)
12g.101761574G>CCA386296101GNPTABc.2905C>G (p.Leu969Val)
c.2824C>G (p.Leu942Val)
c.2689C>G (p.Leu897Val)
c.1678C>G (p.Leu560Val)
12g.101761574G>TCA386296102GNPTABc.2905C>A (p.Leu969Met)
c.2824C>A (p.Leu942Met)
c.2689C>A (p.Leu897Met)
c.1678C>A (p.Leu560Met)
12g.101761575T>ACA386296103GNPTABc.2904A>T (p.Glu968Asp)
c.2823A>T (p.Glu941Asp)
c.2688A>T (p.Glu896Asp)
c.1677A>T (p.Glu559Asp)
12g.101761575T>CCA242454265GNPTABc.2904A>G (p.Glu968=)
c.2823A>G (p.Glu941=)
c.2688A>G (p.Glu896=)
c.1677A>G (p.Glu559=)
 dbSNP
12g.101761575T>GCA6746323GNPTABc.2904A>C (p.Glu968Asp)
c.2823A>C (p.Glu941Asp)
c.2688A>C (p.Glu896Asp)
c.1677A>C (p.Glu559Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761575T=CA2058952944GNPTABc.2904A= (p.Glu968=)
c.2823A= (p.Glu941=)
c.2688A= (p.Glu896=)
c.1677A= (p.Glu559=)
12g.101761576T>ACA386296104GNPTABc.2903A>T (p.Glu968Val)
c.2822A>T (p.Glu941Val)
c.2687A>T (p.Glu896Val)
c.1676A>T (p.Glu559Val)
12g.101761576T>CCA386296105GNPTABc.2903A>G (p.Glu968Gly)
c.2822A>G (p.Glu941Gly)
c.2687A>G (p.Glu896Gly)
c.1676A>G (p.Glu559Gly)
 gnomAD v4
12g.101761576T>GCA386296106GNPTABc.2903A>C (p.Glu968Ala)
c.2822A>C (p.Glu941Ala)
c.2687A>C (p.Glu896Ala)
c.1676A>C (p.Glu559Ala)
12g.101761577C>ACA386296107GNPTABc.2902G>T (p.Glu968Ter)
c.2821G>T (p.Glu941Ter)
c.2686G>T (p.Glu896Ter)
c.1675G>T (p.Glu559Ter)
12g.101761577C=CA2058952950GNPTABc.2902G= (p.Glu968=)
c.2821G= (p.Glu941=)
c.2686G= (p.Glu896=)
c.1675G= (p.Glu559=)
12g.101761577C>GCA386296108GNPTABc.2902G>C (p.Glu968Gln)
c.2821G>C (p.Glu941Gln)
c.2686G>C (p.Glu896Gln)
c.1675G>C (p.Glu559Gln)
12g.101761577C>TCA386296109GNPTABc.2902G>A (p.Glu968Lys)
c.2821G>A (p.Glu941Lys)
c.2686G>A (p.Glu896Lys)
c.1675G>A (p.Glu559Lys)
 dbSNP gnomAD v2 gnomAD v4
12g.101761578T>ACA386296110GNPTABc.2901A>T (p.Gln967His)
c.2820A>T (p.Gln940His)
c.2685A>T (p.Gln895His)
c.1674A>T (p.Gln558His)
12g.101761578T>CCA481576668GNPTABc.2901A>G (p.Gln967=)
c.2820A>G (p.Gln940=)
c.2685A>G (p.Gln895=)
c.1674A>G (p.Gln558=)
 ClinVar gnomAD v4
12g.101761578T>GCA386296111GNPTABc.2901A>C (p.Gln967His)
c.2820A>C (p.Gln940His)
c.2685A>C (p.Gln895His)
c.1674A>C (p.Gln558His)
12g.101761579T>ACA386296113GNPTABc.2900A>T (p.Gln967Leu)
c.2819A>T (p.Gln940Leu)
c.2684A>T (p.Gln895Leu)
c.1673A>T (p.Gln558Leu)
 dbSNP
12g.101761579T>CCA6746324GNPTABc.2900A>G (p.Gln967Arg)
c.2819A>G (p.Gln940Arg)
c.2684A>G (p.Gln895Arg)
c.1673A>G (p.Gln558Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761579T>GCA386296112GNPTABc.2900A>C (p.Gln967Pro)
c.2819A>C (p.Gln940Pro)
c.2684A>C (p.Gln895Pro)
c.1673A>C (p.Gln558Pro)
12g.101761579T=CA2058952961GNPTABc.2900A= (p.Gln967=)
c.2819A= (p.Gln940=)
c.2684A= (p.Gln895=)
c.1673A= (p.Gln558=)
12g.101761580G>ACA386296116GNPTABc.2899C>T (p.Gln967Ter)
c.2818C>T (p.Gln940Ter)
c.2683C>T (p.Gln895Ter)
c.1672C>T (p.Gln558Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.101761580G>CCA386296114GNPTABc.2899C>G (p.Gln967Glu)
c.2818C>G (p.Gln940Glu)
c.2683C>G (p.Gln895Glu)
c.1672C>G (p.Gln558Glu)
12g.101761580G=CA2058952965GNPTABc.2899C= (p.Gln967=)
c.2818C= (p.Gln940=)
c.2683C= (p.Gln895=)
c.1672C= (p.Gln558=)
12g.101761580G>TCA386296115GNPTABc.2899C>A (p.Gln967Lys)
c.2818C>A (p.Gln940Lys)
c.2683C>A (p.Gln895Lys)
c.1672C>A (p.Gln558Lys)
12g.101761581C>ACA386296117GNPTABc.2898G>T (p.Met966Ile)
c.2817G>T (p.Met939Ile)
c.2682G>T (p.Met894Ile)
c.1671G>T (p.Met557Ile)
12g.101761581C>GCA386296118GNPTABc.2898G>C (p.Met966Ile)
c.2817G>C (p.Met939Ile)
c.2682G>C (p.Met894Ile)
c.1671G>C (p.Met557Ile)
12g.101761581C>TCA386296119GNPTABc.2898G>A (p.Met966Ile)
c.2817G>A (p.Met939Ile)
c.2682G>A (p.Met894Ile)
c.1671G>A (p.Met557Ile)
12g.101761582A=CA2058952971GNPTABc.2897T= (p.Met966=)
c.2816T= (p.Met939=)
c.2681T= (p.Met894=)
c.1670T= (p.Met557=)
12g.101761582A>CCA386296120GNPTABc.2897T>G (p.Met966Arg)
c.2816T>G (p.Met939Arg)
c.2681T>G (p.Met894Arg)
c.1670T>G (p.Met557Arg)
12g.101761582A>GCA6746325GNPTABc.2897T>C (p.Met966Thr)
c.2816T>C (p.Met939Thr)
c.2681T>C (p.Met894Thr)
c.1670T>C (p.Met557Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761582A>TCA386296121GNPTABc.2897T>A (p.Met966Lys)
c.2816T>A (p.Met939Lys)
c.2681T>A (p.Met894Lys)
c.1670T>A (p.Met557Lys)
12g.101761582_101761583delinsATCA2058952970GNPTABc.2896_2897delinsAT (p.Met966=)
c.2815_2816delinsAT (p.Met939=)
c.2680_2681delinsAT (p.Met894=)
c.1669_1670delinsAT (p.Met557=)
12g.101761583delCA223754GNPTABc.2896del (p.Met966CysfsTer?)
c.2815del (p.Met939CysfsTer?)
c.2680del (p.Met894CysfsTer?)
c.1669del (p.Met557CysfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101761583T>ACA386296122GNPTABc.2896A>T (p.Met966Leu)
c.2815A>T (p.Met939Leu)
c.2680A>T (p.Met894Leu)
c.1669A>T (p.Met557Leu)
12g.101761583T>CCA386296124GNPTABc.2896A>G (p.Met966Val)
c.2815A>G (p.Met939Val)
c.2680A>G (p.Met894Val)
c.1669A>G (p.Met557Val)
 dbSNP
12g.101761583T>GCA386296123GNPTABc.2896A>C (p.Met966Leu)
c.2815A>C (p.Met939Leu)
c.2680A>C (p.Met894Leu)
c.1669A>C (p.Met557Leu)
12g.101761583T=CA2058952981GNPTABc.2896A= (p.Met966=)
c.2815A= (p.Met939=)
c.2680A= (p.Met894=)
c.1669A= (p.Met557=)
12g.101761584A>CCA481576669GNPTABc.2895T>G (p.Val965=)
c.2814T>G (p.Val938=)
c.2679T>G (p.Val893=)
c.1668T>G (p.Val556=)
12g.101761584A>GCA481576670GNPTABc.2895T>C (p.Val965=)
c.2814T>C (p.Val938=)
c.2679T>C (p.Val893=)
c.1668T>C (p.Val556=)
 gnomAD v4
12g.101761584A>TCA481576671GNPTABc.2895T>A (p.Val965=)
c.2814T>A (p.Val938=)
c.2679T>A (p.Val893=)
c.1668T>A (p.Val556=)
 gnomAD v4
12g.101761585A>CCA386296125GNPTABc.2894T>G (p.Val965Gly)
c.2813T>G (p.Val938Gly)
c.2678T>G (p.Val893Gly)
c.1667T>G (p.Val556Gly)
12g.101761585A>GCA386296126GNPTABc.2894T>C (p.Val965Ala)
c.2813T>C (p.Val938Ala)
c.2678T>C (p.Val893Ala)
c.1667T>C (p.Val556Ala)
12g.101761585A>TCA386296127GNPTABc.2894T>A (p.Val965Asp)
c.2813T>A (p.Val938Asp)
c.2678T>A (p.Val893Asp)
c.1667T>A (p.Val556Asp)
12g.101761586C>ACA386296128GNPTABc.2893G>T (p.Val965Phe)
c.2812G>T (p.Val938Phe)
c.2677G>T (p.Val893Phe)
c.1666G>T (p.Val556Phe)
12g.101761586C>GCA386296130GNPTABc.2893G>C (p.Val965Leu)
c.2812G>C (p.Val938Leu)
c.2677G>C (p.Val893Leu)
c.1666G>C (p.Val556Leu)
 gnomAD v4
12g.101761586C>TCA386296129GNPTABc.2893G>A (p.Val965Ile)
c.2812G>A (p.Val938Ile)
c.2677G>A (p.Val893Ile)
c.1666G>A (p.Val556Ile)
12g.101761587A>CCA386296131GNPTABc.2892T>G (p.Ile964Met)
c.2811T>G (p.Ile937Met)
c.2676T>G (p.Ile892Met)
c.1665T>G (p.Ile555Met)
12g.101761587A>GCA481576672GNPTABc.2892T>C (p.Ile964=)
c.2811T>C (p.Ile937=)
c.2676T>C (p.Ile892=)
c.1665T>C (p.Ile555=)
 ClinVar dbSNP
12g.101761587A>TCA481576673GNPTABc.2892T>A (p.Ile964=)
c.2811T>A (p.Ile937=)
c.2676T>A (p.Ile892=)
c.1665T>A (p.Ile555=)
12g.101761588A=CA2058952989GNPTABc.2891T= (p.Ile964=)
c.2810T= (p.Ile937=)
c.2675T= (p.Ile892=)
c.1664T= (p.Ile555=)
12g.101761588A>CCA6746327GNPTABc.2891T>G (p.Ile964Ser)
c.2810T>G (p.Ile937Ser)
c.2675T>G (p.Ile892Ser)
c.1664T>G (p.Ile555Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761588A>GCA6746326GNPTABc.2891T>C (p.Ile964Thr)
c.2810T>C (p.Ile937Thr)
c.2675T>C (p.Ile892Thr)
c.1664T>C (p.Ile555Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761588A>TCA386296132GNPTABc.2891T>A (p.Ile964Asn)
c.2810T>A (p.Ile937Asn)
c.2675T>A (p.Ile892Asn)
c.1664T>A (p.Ile555Asn)
12g.101761589T>ACA386296133GNPTABc.2890A>T (p.Ile964Phe)
c.2809A>T (p.Ile937Phe)
c.2674A>T (p.Ile892Phe)
c.1663A>T (p.Ile555Phe)
12g.101761589T>CCA386296134GNPTABc.2890A>G (p.Ile964Val)
c.2809A>G (p.Ile937Val)
c.2674A>G (p.Ile892Val)
c.1663A>G (p.Ile555Val)
12g.101761589T>GCA386296135GNPTABc.2890A>C (p.Ile964Leu)
c.2809A>C (p.Ile937Leu)
c.2674A>C (p.Ile892Leu)
c.1663A>C (p.Ile555Leu)
12g.101761590C>ACA481576674GNPTABc.2889G>T (p.Arg963=)
c.2808G>T (p.Arg936=)
c.2673G>T (p.Arg891=)
c.1662G>T (p.Arg554=)
12g.101761590C>GCA481576675GNPTABc.2889G>C (p.Arg963=)
c.2808G>C (p.Arg936=)
c.2673G>C (p.Arg891=)
c.1662G>C (p.Arg554=)
12g.101761590C>TCA481576676GNPTABc.2889G>A (p.Arg963=)
c.2808G>A (p.Arg936=)
c.2673G>A (p.Arg891=)
c.1662G>A (p.Arg554=)
12g.101761591C>ACA386296136GNPTABc.2888G>T (p.Arg963Leu)
c.2807G>T (p.Arg936Leu)
c.2672G>T (p.Arg891Leu)
c.1661G>T (p.Arg554Leu)
12g.101761591C=CA2058952993GNPTABc.2888G= (p.Arg963=)
c.2807G= (p.Arg936=)
c.2672G= (p.Arg891=)
c.1661G= (p.Arg554=)
12g.101761591C>GCA386296137GNPTABc.2888G>C (p.Arg963Pro)
c.2807G>C (p.Arg936Pro)
c.2672G>C (p.Arg891Pro)
c.1661G>C (p.Arg554Pro)
12g.101761591C>TCA386296138GNPTABc.2888G>A (p.Arg963Gln)
c.2807G>A (p.Arg936Gln)
c.2672G>A (p.Arg891Gln)
c.1661G>A (p.Arg554Gln)
 dbSNP gnomAD v2 gnomAD v4
12g.101761592G>ACA6746328GNPTABc.2887C>T (p.Arg963Trp)
c.2806C>T (p.Arg936Trp)
c.2671C>T (p.Arg891Trp)
c.1660C>T (p.Arg554Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761592G>CCA386296139GNPTABc.2887C>G (p.Arg963Gly)
c.2806C>G (p.Arg936Gly)
c.2671C>G (p.Arg891Gly)
c.1660C>G (p.Arg554Gly)
12g.101761592G=CA2058952997GNPTABc.2887C= (p.Arg963=)
c.2806C= (p.Arg936=)
c.2671C= (p.Arg891=)
c.1660C= (p.Arg554=)
12g.101761592G>TCA481576678GNPTABc.2887C>A (p.Arg963=)
c.2806C>A (p.Arg936=)
c.2671C>A (p.Arg891=)
c.1660C>A (p.Arg554=)
12g.101761593G>ACA6746329GNPTABc.2886C>T (p.Asp962=)
c.2805C>T (p.Asp935=)
c.2670C>T (p.Asp890=)
c.1659C>T (p.Asp553=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761593G>CCA386296141GNPTABc.2886C>G (p.Asp962Glu)
c.2805C>G (p.Asp935Glu)
c.2670C>G (p.Asp890Glu)
c.1659C>G (p.Asp553Glu)
12g.101761593G=CA2058953003GNPTABc.2886C= (p.Asp962=)
c.2805C= (p.Asp935=)
c.2670C= (p.Asp890=)
c.1659C= (p.Asp553=)
12g.101761593G>TCA386296140GNPTABc.2886C>A (p.Asp962Glu)
c.2805C>A (p.Asp935Glu)
c.2670C>A (p.Asp890Glu)
c.1659C>A (p.Asp553Glu)
 ClinVar dbSNP
12g.101761594T>ACA386296142GNPTABc.2885A>T (p.Asp962Val)
c.2804A>T (p.Asp935Val)
c.2669A>T (p.Asp890Val)
c.1658A>T (p.Asp553Val)
12g.101761594T>CCA386296143GNPTABc.2885A>G (p.Asp962Gly)
c.2804A>G (p.Asp935Gly)
c.2669A>G (p.Asp890Gly)
c.1658A>G (p.Asp553Gly)
12g.101761594T>GCA386296144GNPTABc.2885A>C (p.Asp962Ala)
c.2804A>C (p.Asp935Ala)
c.2669A>C (p.Asp890Ala)
c.1658A>C (p.Asp553Ala)
12g.101761595C>ACA6746330GNPTABc.2884G>T (p.Asp962Tyr)
c.2803G>T (p.Asp935Tyr)
c.2668G>T (p.Asp890Tyr)
c.1657G>T (p.Asp553Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761595C=CA2058953007GNPTABc.2884G= (p.Asp962=)
c.2803G= (p.Asp935=)
c.2668G= (p.Asp890=)
c.1657G= (p.Asp553=)
12g.101761595C>GCA386296145GNPTABc.2884G>C (p.Asp962His)
c.2803G>C (p.Asp935His)
c.2668G>C (p.Asp890His)
c.1657G>C (p.Asp553His)
12g.101761595C>TCA386296146GNPTABc.2884G>A (p.Asp962Asn)
c.2803G>A (p.Asp935Asn)
c.2668G>A (p.Asp890Asn)
c.1657G>A (p.Asp553Asn)
 COSMIC
12g.101761596A>CCA386296147GNPTABc.2883T>G (p.Ile961Met)
c.2802T>G (p.Ile934Met)
c.2667T>G (p.Ile889Met)
c.1656T>G (p.Ile552Met)
12g.101761596A>GCA481576680GNPTABc.2883T>C (p.Ile961=)
c.2802T>C (p.Ile934=)
c.2667T>C (p.Ile889=)
c.1656T>C (p.Ile552=)
12g.101761596A>TCA481576679GNPTABc.2883T>A (p.Ile961=)
c.2802T>A (p.Ile934=)
c.2667T>A (p.Ile889=)
c.1656T>A (p.Ile552=)
12g.101761597A>CCA386296148GNPTABc.2882T>G (p.Ile961Ser)
c.2801T>G (p.Ile934Ser)
c.2666T>G (p.Ile889Ser)
c.1655T>G (p.Ile552Ser)
12g.101761597A>GCA386296149GNPTABc.2882T>C (p.Ile961Thr)
c.2801T>C (p.Ile934Thr)
c.2666T>C (p.Ile889Thr)
c.1655T>C (p.Ile552Thr)
 gnomAD v4
12g.101761597A>TCA386296150GNPTABc.2882T>A (p.Ile961Asn)
c.2801T>A (p.Ile934Asn)
c.2666T>A (p.Ile889Asn)
c.1655T>A (p.Ile552Asn)
12g.101761598T>ACA386296151GNPTABc.2881A>T (p.Ile961Phe)
c.2800A>T (p.Ile934Phe)
c.2665A>T (p.Ile889Phe)
c.1654A>T (p.Ile552Phe)
12g.101761598T>CCA6746331GNPTABc.2881A>G (p.Ile961Val)
c.2800A>G (p.Ile934Val)
c.2665A>G (p.Ile889Val)
c.1654A>G (p.Ile552Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761598T>GCA386296152GNPTABc.2881A>C (p.Ile961Leu)
c.2800A>C (p.Ile934Leu)
c.2665A>C (p.Ile889Leu)
c.1654A>C (p.Ile552Leu)
12g.101761598T=CA2058953011GNPTABc.2881A= (p.Ile961=)
c.2800A= (p.Ile934=)
c.2665A= (p.Ile889=)
c.1654A= (p.Ile552=)
12g.101761599C>ACA386296154GNPTABc.2880G>T (p.Met960Ile)
c.2799G>T (p.Met933Ile)
c.2664G>T (p.Met888Ile)
c.1653G>T (p.Met551Ile)
12g.101761599C=CA2058953016GNPTABc.2880G= (p.Met960=)
c.2799G= (p.Met933=)
c.2664G= (p.Met888=)
c.1653G= (p.Met551=)
12g.101761599C>GCA6746332GNPTABc.2880G>C (p.Met960Ile)
c.2799G>C (p.Met933Ile)
c.2664G>C (p.Met888Ile)
c.1653G>C (p.Met551Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761599C>TCA386296153GNPTABc.2880G>A (p.Met960Ile)
c.2799G>A (p.Met933Ile)
c.2664G>A (p.Met888Ile)
c.1653G>A (p.Met551Ile)
 dbSNP
12g.101761599_101761601delinsCATCA2058953021GNPTABc.2878_2880delinsATG (p.Met960=)
c.2797_2799delinsATG (p.Met933=)
c.2662_2664delinsATG (p.Met888=)
c.1651_1653delinsATG (p.Met551=)
12g.101761600A>CCA386296155GNPTABc.2879T>G (p.Met960Arg)
c.2798T>G (p.Met933Arg)
c.2663T>G (p.Met888Arg)
c.1652T>G (p.Met551Arg)
12g.101761600A>GCA386296156GNPTABc.2879T>C (p.Met960Thr)
c.2798T>C (p.Met933Thr)
c.2663T>C (p.Met888Thr)
c.1652T>C (p.Met551Thr)
 gnomAD v4
12g.101761600A>TCA386296157GNPTABc.2879T>A (p.Met960Lys)
c.2798T>A (p.Met933Lys)
c.2663T>A (p.Met888Lys)
c.1652T>A (p.Met551Lys)
12g.101761600_101761601delCA607597791GNPTABc.2878_2879del (p.Met960AspfsTer2)
c.2797_2798del (p.Met933AspfsTer2)
c.2662_2663del (p.Met888AspfsTer2)
c.1651_1652del (p.Met551AspfsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101761601T>ACA386296158GNPTABc.2878A>T (p.Met960Leu)
c.2797A>T (p.Met933Leu)
c.2662A>T (p.Met888Leu)
c.1651A>T (p.Met551Leu)
12g.101761601T>CCA6746333GNPTABc.2878A>G (p.Met960Val)
c.2797A>G (p.Met933Val)
c.2662A>G (p.Met888Val)
c.1651A>G (p.Met551Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761601T>GCA386296159GNPTABc.2878A>C (p.Met960Leu)
c.2797A>C (p.Met933Leu)
c.2662A>C (p.Met888Leu)
c.1651A>C (p.Met551Leu)
12g.101761601T=CA2058953027GNPTABc.2878A= (p.Met960=)
c.2797A= (p.Met933=)
c.2662A= (p.Met888=)
c.1651A= (p.Met551=)
12g.101761602G>ACA481576687GNPTABc.2877C>T (p.His959=)
c.2796C>T (p.His932=)
c.2661C>T (p.His887=)
c.1650C>T (p.His550=)
 ClinVar
12g.101761602G>CCA386296160GNPTABc.2877C>G (p.His959Gln)
c.2796C>G (p.His932Gln)
c.2661C>G (p.His887Gln)
c.1650C>G (p.His550Gln)
12g.101761602G>TCA386296161GNPTABc.2877C>A (p.His959Gln)
c.2796C>A (p.His932Gln)
c.2661C>A (p.His887Gln)
c.1650C>A (p.His550Gln)
12g.101761603T>ACA386296162GNPTABc.2876A>T (p.His959Leu)
c.2795A>T (p.His932Leu)
c.2660A>T (p.His887Leu)
c.1649A>T (p.His550Leu)
 dbSNP
12g.101761603T>CCA386296163GNPTABc.2876A>G (p.His959Arg)
c.2795A>G (p.His932Arg)
c.2660A>G (p.His887Arg)
c.1649A>G (p.His550Arg)
12g.101761603T>GCA386296164GNPTABc.2876A>C (p.His959Pro)
c.2795A>C (p.His932Pro)
c.2660A>C (p.His887Pro)
c.1649A>C (p.His550Pro)
12g.101761603T=CA2058953030GNPTABc.2876A= (p.His959=)
c.2795A= (p.His932=)
c.2660A= (p.His887=)
c.1649A= (p.His550=)
12g.101761604G>ACA386296165GNPTABc.2875C>T (p.His959Tyr)
c.2794C>T (p.His932Tyr)
c.2659C>T (p.His887Tyr)
c.1648C>T (p.His550Tyr)
 gnomAD v4
12g.101761604G>CCA386296166GNPTABc.2875C>G (p.His959Asp)
c.2794C>G (p.His932Asp)
c.2659C>G (p.His887Asp)
c.1648C>G (p.His550Asp)
12g.101761604G>TCA386296167GNPTABc.2875C>A (p.His959Asn)
c.2794C>A (p.His932Asn)
c.2659C>A (p.His887Asn)
c.1648C>A (p.His550Asn)
12g.101761605A>CCA481576689GNPTABc.2874T>G (p.Pro958=)
c.2793T>G (p.Pro931=)
c.2658T>G (p.Pro886=)
c.1647T>G (p.Pro549=)
12g.101761605A>GCA481576690GNPTABc.2874T>C (p.Pro958=)
c.2793T>C (p.Pro931=)
c.2658T>C (p.Pro886=)
c.1647T>C (p.Pro549=)
12g.101761605A>TCA481576691GNPTABc.2874T>A (p.Pro958=)
c.2793T>A (p.Pro931=)
c.2658T>A (p.Pro886=)
c.1647T>A (p.Pro549=)
12g.101761606G>ACA386296169GNPTABc.2873C>T (p.Pro958Leu)
c.2792C>T (p.Pro931Leu)
c.2657C>T (p.Pro886Leu)
c.1646C>T (p.Pro549Leu)
12g.101761606G>CCA386296170GNPTABc.2873C>G (p.Pro958Arg)
c.2792C>G (p.Pro931Arg)
c.2657C>G (p.Pro886Arg)
c.1646C>G (p.Pro549Arg)
12g.101761606G>TCA386296168GNPTABc.2873C>A (p.Pro958His)
c.2792C>A (p.Pro931His)
c.2657C>A (p.Pro886His)
c.1646C>A (p.Pro549His)
12g.101761607G>ACA386296171GNPTABc.2872C>T (p.Pro958Ser)
c.2791C>T (p.Pro931Ser)
c.2656C>T (p.Pro886Ser)
c.1645C>T (p.Pro549Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101761607G>CCA386296172GNPTABc.2872C>G (p.Pro958Ala)
c.2791C>G (p.Pro931Ala)
c.2656C>G (p.Pro886Ala)
c.1645C>G (p.Pro549Ala)
12g.101761607G=CA2058953034GNPTABc.2872C= (p.Pro958=)
c.2791C= (p.Pro931=)
c.2656C= (p.Pro886=)
c.1645C= (p.Pro549=)
12g.101761607G>TCA386296173GNPTABc.2872C>A (p.Pro958Thr)
c.2791C>A (p.Pro931Thr)
c.2656C>A (p.Pro886Thr)
c.1645C>A (p.Pro549Thr)
12g.101761608C>ACA386296174GNPTABc.2871G>T (p.Met957Ile)
c.2790G>T (p.Met930Ile)
c.2655G>T (p.Met885Ile)
c.1644G>T (p.Met548Ile)
12g.101761608C>GCA386296175GNPTABc.2871G>C (p.Met957Ile)
c.2790G>C (p.Met930Ile)
c.2655G>C (p.Met885Ile)
c.1644G>C (p.Met548Ile)
 gnomAD v4
12g.101761608C>TCA386296176GNPTABc.2871G>A (p.Met957Ile)
c.2790G>A (p.Met930Ile)
c.2655G>A (p.Met885Ile)
c.1644G>A (p.Met548Ile)
 gnomAD v4
12g.101761609A>CCA386296179GNPTABc.2870T>G (p.Met957Arg)
c.2789T>G (p.Met930Arg)
c.2654T>G (p.Met885Arg)
c.1643T>G (p.Met548Arg)
12g.101761609A>GCA386296177GNPTABc.2870T>C (p.Met957Thr)
c.2789T>C (p.Met930Thr)
c.2654T>C (p.Met885Thr)
c.1643T>C (p.Met548Thr)
12g.101761609A>TCA386296178GNPTABc.2870T>A (p.Met957Lys)
c.2789T>A (p.Met930Lys)
c.2654T>A (p.Met885Lys)
c.1643T>A (p.Met548Lys)
12g.101761610T>ACA386296180GNPTABc.2869A>T (p.Met957Leu)
c.2788A>T (p.Met930Leu)
c.2653A>T (p.Met885Leu)
c.1642A>T (p.Met548Leu)
12g.101761610T>CCA6746334GNPTABc.2869A>G (p.Met957Val)
c.2788A>G (p.Met930Val)
c.2653A>G (p.Met885Val)
c.1642A>G (p.Met548Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761610T>GCA386296181GNPTABc.2869A>C (p.Met957Leu)
c.2788A>C (p.Met930Leu)
c.2653A>C (p.Met885Leu)
c.1642A>C (p.Met548Leu)
12g.101761610T=CA2058953036GNPTABc.2869A= (p.Met957=)
c.2788A= (p.Met930=)
c.2653A= (p.Met885=)
c.1642A= (p.Met548=)
12g.101761612_101761613delCA2580616841GNPTABc.2868_2869del (p.Met957AlafsTer5)
c.2787_2788del (p.Met930AlafsTer5)
c.2652_2653del (p.Met885AlafsTer5)
c.1641_1642del (p.Met548AlafsTer5)
 ClinVar dbSNP
12g.101761611G>ACA481576699GNPTABc.2868C>T (p.His956=)
c.2787C>T (p.His929=)
c.2652C>T (p.His884=)
c.1641C>T (p.His547=)
12g.101761611G>CCA386296182GNPTABc.2868C>G (p.His956Gln)
c.2787C>G (p.His929Gln)
c.2652C>G (p.His884Gln)
c.1641C>G (p.His547Gln)
12g.101761611G>TCA386296183GNPTABc.2868C>A (p.His956Gln)
c.2787C>A (p.His929Gln)
c.2652C>A (p.His884Gln)
c.1641C>A (p.His547Gln)
12g.101761612T>ACA386296184GNPTABc.2867A>T (p.His956Leu)
c.2786A>T (p.His929Leu)
c.2651A>T (p.His884Leu)
c.1640A>T (p.His547Leu)
12g.101761612T>CCA343384GNPTABc.2867A>G (p.His956Arg)
c.2786A>G (p.His929Arg)
c.2651A>G (p.His884Arg)
c.1640A>G (p.His547Arg)
 ClinVar dbSNP gnomAD v4
12g.101761612T>GCA386296185GNPTABc.2867A>C (p.His956Pro)
c.2786A>C (p.His929Pro)
c.2651A>C (p.His884Pro)
c.1640A>C (p.His547Pro)
12g.101761612T=CA2058953042GNPTABc.2867A= (p.His956=)
c.2786A= (p.His929=)
c.2651A= (p.His884=)
c.1640A= (p.His547=)
12g.101761613G>ACA343383GNPTABc.2866C>T (p.His956Tyr)
c.2785C>T (p.His929Tyr)
c.2650C>T (p.His884Tyr)
c.1639C>T (p.His547Tyr)
 ClinVar dbSNP
12g.101761613G>CCA386296186GNPTABc.2866C>G (p.His956Asp)
c.2785C>G (p.His929Asp)
c.2650C>G (p.His884Asp)
c.1639C>G (p.His547Asp)
12g.101761613G=CA2058953052GNPTABc.2866C= (p.His956=)
c.2785C= (p.His929=)
c.2650C= (p.His884=)
c.1639C= (p.His547=)
12g.101761613G>TCA242454304GNPTABc.2866C>A (p.His956Asn)
c.2785C>A (p.His929Asn)
c.2650C>A (p.His884Asn)
c.1639C>A (p.His547Asn)
 dbSNP gnomAD v4
12g.101761614A>CCA481576704GNPTABc.2865T>G (p.Ala955=)
c.2784T>G (p.Ala928=)
c.2649T>G (p.Ala883=)
c.1638T>G (p.Ala546=)
12g.101761614A>GCA481576705GNPTABc.2865T>C (p.Ala955=)
c.2784T>C (p.Ala928=)
c.2649T>C (p.Ala883=)
c.1638T>C (p.Ala546=)
12g.101761614A>TCA481576703GNPTABc.2865T>A (p.Ala955=)
c.2784T>A (p.Ala928=)
c.2649T>A (p.Ala883=)
c.1638T>A (p.Ala546=)
12g.101761615G>ACA356543GNPTABc.2864C>T (p.Ala955Val)
c.2783C>T (p.Ala928Val)
c.2648C>T (p.Ala883Val)
c.1637C>T (p.Ala546Val)
 ClinVar dbSNP gnomAD v4
12g.[101761615G>A;101761696T>C]CA356547GNPTABc.[2783A>G;2864C>T] (p.[Lys928Arg;Ala955Val])
c.[2702A>G;2783C>T] (p.[Lys901Arg;Ala928Val])
c.[2567A>G;2648C>T] (p.[Lys856Arg;Ala883Val])
c.[1556A>G;1637C>T] (p.[Lys519Arg;Ala546Val])
12g.101761615G>CCA386296187GNPTABc.2864C>G (p.Ala955Gly)
c.2783C>G (p.Ala928Gly)
c.2648C>G (p.Ala883Gly)
c.1637C>G (p.Ala546Gly)
12g.101761615G=CA2058953055GNPTABc.2864C= (p.Ala955=)
c.2783C= (p.Ala928=)
c.2648C= (p.Ala883=)
c.1637C= (p.Ala546=)
12g.101761615G>TCA386296188GNPTABc.2864C>A (p.Ala955Asp)
c.2783C>A (p.Ala928Asp)
c.2648C>A (p.Ala883Asp)
c.1637C>A (p.Ala546Asp)

Number of alleles fetched