Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169529543G>ACA527131126F5c.5419+65C>T (n.5419+65C>T)
c.5434+65C>T (n.5434+65C>T)
c.5008+65C>T (n.5008+65C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529543G=CA1206135781F5c.5419+65C= (n.5419+65C=)
c.5434+65C= (n.5434+65C=)
c.5008+65C= (n.5008+65C=)
1g.169529543G>TCA2649035270F5c.5419+65C>A (n.5419+65C>A)
c.5434+65C>A (n.5434+65C>A)
c.5008+65C>A (n.5008+65C>A)
 gnomAD v4
1g.169529544G>CCA2649035274F5c.5419+64C>G (n.5419+64C>G)
c.5434+64C>G (n.5434+64C>G)
c.5008+64C>G (n.5008+64C>G)
 gnomAD v4
1g.169529544G=CA1206135782F5c.5419+64C= (n.5419+64C=)
c.5434+64C= (n.5434+64C=)
c.5008+64C= (n.5008+64C=)
1g.169529544G>TCA890923065F5c.5419+64C>A (n.5419+64C>A)
c.5434+64C>A (n.5434+64C>A)
c.5008+64C>A (n.5008+64C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.169529545C>ACA32434566F5c.5419+63G>T (n.5419+63G>T)
c.5434+63G>T (n.5434+63G>T)
c.5008+63G>T (n.5008+63G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.169529545C=CA1147933789F5c.5419+63G= (n.5419+63G=)
c.5434+63G= (n.5434+63G=)
c.5008+63G= (n.5008+63G=)
1g.169529546A>TCA2574085076F5c.5419+62T>A (n.5419+62T>A)
c.5434+62T>A (n.5434+62T>A)
c.5008+62T>A (n.5008+62T>A)
1g.169529547G>TCA2574085077F5c.5419+61C>A (n.5419+61C>A)
c.5434+61C>A (n.5434+61C>A)
c.5008+61C>A (n.5008+61C>A)
1g.169529548A>GCA2746574093F5c.5419+60T>C (n.5419+60T>C)
c.5434+60T>C (n.5434+60T>C)
c.5008+60T>C (n.5008+60T>C)
1g.169529549A=CA1206135783F5c.5419+59T= (n.5419+59T=)
c.5434+59T= (n.5434+59T=)
c.5008+59T= (n.5008+59T=)
1g.169529549A>GCA1206135785F5c.5419+59T>C (n.5419+59T>C)
c.5434+59T>C (n.5434+59T>C)
c.5008+59T>C (n.5008+59T>C)
 dbSNP
1g.169529549A>TCA1206135784F5c.5419+59T>A (n.5419+59T>A)
c.5434+59T>A (n.5434+59T>A)
c.5008+59T>A (n.5008+59T>A)
 dbSNP gnomAD v4
1g.169529556G>ACA1206135787F5c.5419+52C>T (n.5419+52C>T)
c.5434+52C>T (n.5434+52C>T)
c.5008+52C>T (n.5008+52C>T)
 dbSNP
1g.169529556G=CA1206135786F5c.5419+52C= (n.5419+52C=)
c.5434+52C= (n.5434+52C=)
c.5008+52C= (n.5008+52C=)
1g.169529557T>CCA2574085078F5c.5419+51A>G (n.5419+51A>G)
c.5434+51A>G (n.5434+51A>G)
c.5008+51A>G (n.5008+51A>G)
1g.169529558G>TCA2649035290F5c.5419+50C>A (n.5419+50C>A)
c.5434+50C>A (n.5434+50C>A)
c.5008+50C>A (n.5008+50C>A)
 gnomAD v4
1g.169529559A>TCA2649035293F5c.5419+49T>A (n.5419+49T>A)
c.5434+49T>A (n.5434+49T>A)
c.5008+49T>A (n.5008+49T>A)
 gnomAD v4
1g.169529561C>ACA2649035297F5c.5419+47G>T (n.5419+47G>T)
c.5434+47G>T (n.5434+47G>T)
c.5008+47G>T (n.5008+47G>T)
 gnomAD v4
1g.169529561C=CA1206135788F5c.5419+47G= (n.5419+47G=)
c.5434+47G= (n.5434+47G=)
c.5008+47G= (n.5008+47G=)
1g.169529561C>GCA1206135789F5c.5419+47G>C (n.5419+47G>C)
c.5434+47G>C (n.5434+47G>C)
c.5008+47G>C (n.5008+47G>C)
 dbSNP
1g.169529561C>TCA2649035298F5c.5419+47G>A (n.5419+47G>A)
c.5434+47G>A (n.5434+47G>A)
c.5008+47G>A (n.5008+47G>A)
 gnomAD v4
1g.169529563A>GCA2649035301F5c.5419+45T>C (n.5419+45T>C)
c.5434+45T>C (n.5434+45T>C)
c.5008+45T>C (n.5008+45T>C)
 gnomAD v4
1g.169529563A>TCA2649035302F5c.5419+45T>A (n.5419+45T>A)
c.5434+45T>A (n.5434+45T>A)
c.5008+45T>A (n.5008+45T>A)
 gnomAD v4
1g.169529564G>CCA1233504F5c.5419+44C>G (n.5419+44C>G)
c.5434+44C>G (n.5434+44C>G)
c.5008+44C>G (n.5008+44C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529564G=CA1206135790F5c.5419+44C= (n.5419+44C=)
c.5434+44C= (n.5434+44C=)
c.5008+44C= (n.5008+44C=)
1g.169529564G>TCA2649035305F5c.5419+44C>A (n.5419+44C>A)
c.5434+44C>A (n.5434+44C>A)
c.5008+44C>A (n.5008+44C>A)
 gnomAD v4
1g.169529566G>TCA2649035310F5c.5419+42C>A (n.5419+42C>A)
c.5434+42C>A (n.5434+42C>A)
c.5008+42C>A (n.5008+42C>A)
 gnomAD v4
1g.169529568G>CCA2574085079F5c.5419+40C>G (n.5419+40C>G)
c.5434+40C>G (n.5434+40C>G)
c.5008+40C>G (n.5008+40C>G)
1g.169529568G>TCA2574085080F5c.5419+40C>A (n.5419+40C>A)
c.5434+40C>A (n.5434+40C>A)
c.5008+40C>A (n.5008+40C>A)
 gnomAD v4
1g.169529569A=CA1206135791F5c.5419+39T= (n.5419+39T=)
c.5434+39T= (n.5434+39T=)
c.5008+39T= (n.5008+39T=)
1g.169529569A>GCA527131127F5c.5419+39T>C (n.5419+39T>C)
c.5434+39T>C (n.5434+39T>C)
c.5008+39T>C (n.5008+39T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.169529573A=CA1206135792F5c.5419+35T= (n.5419+35T=)
c.5434+35T= (n.5434+35T=)
c.5008+35T= (n.5008+35T=)
1g.169529573A>TCA1206135793F5c.5419+35T>A (n.5419+35T>A)
c.5434+35T>A (n.5434+35T>A)
c.5008+35T>A (n.5008+35T>A)
 dbSNP gnomAD v4
1g.169529574delCA2574085081F5c.5419+35del (n.5419+35del)
c.5434+35del (n.5434+35del)
c.5008+35del (n.5008+35del)
 gnomAD v4
1g.169529574A=CA1206135794F5c.5419+34T= (n.5419+34T=)
c.5434+34T= (n.5434+34T=)
c.5008+34T= (n.5008+34T=)
1g.169529574A>TCA1206135795F5c.5419+34T>A (n.5419+34T>A)
c.5434+34T>A (n.5434+34T>A)
c.5008+34T>A (n.5008+34T>A)
 dbSNP
1g.169529575T>ACA2501433332F5c.5419+33A>T (n.5419+33A>T)
c.5434+33A>T (n.5434+33A>T)
c.5008+33A>T (n.5008+33A>T)
1g.169529575T>GCA2649035314F5c.5419+33A>C (n.5419+33A>C)
c.5434+33A>C (n.5434+33A>C)
c.5008+33A>C (n.5008+33A>C)
 gnomAD v4
1g.169529577A>CCA2649035317F5c.5419+31T>G (n.5419+31T>G)
c.5434+31T>G (n.5434+31T>G)
c.5008+31T>G (n.5008+31T>G)
 gnomAD v4
1g.169529577A>GCA2649035318F5c.5419+31T>C (n.5419+31T>C)
c.5434+31T>C (n.5434+31T>C)
c.5008+31T>C (n.5008+31T>C)
 gnomAD v4
1g.169529581G>TCA2649035319F5c.5419+27C>A (n.5419+27C>A)
c.5434+27C>A (n.5434+27C>A)
c.5008+27C>A (n.5008+27C>A)
 gnomAD v4
1g.169529582A>GCA2649035320F5c.5419+26T>C (n.5419+26T>C)
c.5434+26T>C (n.5434+26T>C)
c.5008+26T>C (n.5008+26T>C)
 gnomAD v4
1g.169529583T>CCA2649035321F5c.5419+25A>G (n.5419+25A>G)
c.5434+25A>G (n.5434+25A>G)
c.5008+25A>G (n.5008+25A>G)
 gnomAD v4
1g.169529583T>GCA2649035322F5c.5419+25A>C (n.5419+25A>C)
c.5434+25A>C (n.5434+25A>C)
c.5008+25A>C (n.5008+25A>C)
 gnomAD v4
1g.169529584T>CCA2649035323F5c.5419+24A>G (n.5419+24A>G)
c.5434+24A>G (n.5434+24A>G)
c.5008+24A>G (n.5008+24A>G)
 gnomAD v4
1g.169529585A>GCA2746574095F5c.5419+23T>C (n.5419+23T>C)
c.5434+23T>C (n.5434+23T>C)
c.5008+23T>C (n.5008+23T>C)
1g.169529585A>TCA2649035325F5c.5419+23T>A (n.5419+23T>A)
c.5434+23T>A (n.5434+23T>A)
c.5008+23T>A (n.5008+23T>A)
 gnomAD v4
1g.169529586G>ACA2574085082F5c.5419+22C>T (n.5419+22C>T)
c.5434+22C>T (n.5434+22C>T)
c.5008+22C>T (n.5008+22C>T)
1g.169529586G=CA1145687688F5c.5419+22C= (n.5419+22C=)
c.5434+22C= (n.5434+22C=)
c.5008+22C= (n.5008+22C=)
1g.169529586G>TCA32434577F5c.5419+22C>A (n.5419+22C>A)
c.5434+22C>A (n.5434+22C>A)
c.5008+22C>A (n.5008+22C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529587A>TCA2568666975F5c.5419+21T>A (n.5419+21T>A)
c.5434+21T>A (n.5434+21T>A)
c.5008+21T>A (n.5008+21T>A)
 gnomAD v4
1g.169529588T>ACA2649035330F5c.5419+20A>T (n.5419+20A>T)
c.5434+20A>T (n.5434+20A>T)
c.5008+20A>T (n.5008+20A>T)
 gnomAD v4
1g.169529589C>ACA2649035333F5c.5419+19G>T (n.5419+19G>T)
c.5434+19G>T (n.5434+19G>T)
c.5008+19G>T (n.5008+19G>T)
 gnomAD v4
1g.169529589C=CA1147080435F5c.5419+19G= (n.5419+19G=)
c.5434+19G= (n.5434+19G=)
c.5008+19G= (n.5008+19G=)
1g.169529589C>GCA1233505F5c.5419+19G>C (n.5419+19G>C)
c.5434+19G>C (n.5434+19G>C)
c.5008+19G>C (n.5008+19G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529593G>ACA1233506F5c.5419+15C>T (n.5419+15C>T)
c.5434+15C>T (n.5434+15C>T)
c.5008+15C>T (n.5008+15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529593G=CA1206135796F5c.5419+15C= (n.5419+15C=)
c.5434+15C= (n.5434+15C=)
c.5008+15C= (n.5008+15C=)
1g.169529594T>CCA2649035341F5c.5419+14A>G (n.5419+14A>G)
c.5434+14A>G (n.5434+14A>G)
c.5008+14A>G (n.5008+14A>G)
 gnomAD v4
1g.169529594T=CA1206135797F5c.5419+14A= (n.5419+14A=)
c.5434+14A= (n.5434+14A=)
c.5008+14A= (n.5008+14A=)
1g.169529595C>ACA2746574102F5c.5419+13G>T (n.5419+13G>T)
c.5434+13G>T (n.5434+13G>T)
c.5008+13G>T (n.5008+13G>T)
1g.169529595dupCA1008974837F5c.5419+13dup (n.5419+13dup)
c.5434+13dup (n.5434+13dup)
c.5008+13dup (n.5008+13dup)
 dbSNP gnomAD v3 gnomAD v4
1g.169529595_169529596delinsCTCA1206135799F5c.5419+12_5419+13delinsAG (n.5419+12_5419+13delinsAG)
c.5434+12_5434+13delinsAG (n.5434+12_5434+13delinsAG)
c.5008+12_5008+13delinsAG (n.5008+12_5008+13delinsAG)
1g.169529595_169529597delinsCTGCA1206135798F5c.5419+11_5419+13delinsCAG (n.5419+11_5419+13delinsCAG)
c.5434+11_5434+13delinsCAG (n.5434+11_5434+13delinsCAG)
c.5008+11_5008+13delinsCAG (n.5008+11_5008+13delinsCAG)
1g.169529596delCA32434625F5c.5419+12del (n.5419+12del)
c.5434+12del (n.5434+12del)
c.5008+12del (n.5008+12del)
 dbSNP
1g.169529596T>ACA890923081F5c.5419+12A>T (n.5419+12A>T)
c.5434+12A>T (n.5434+12A>T)
c.5008+12A>T (n.5008+12A>T)
 dbSNP gnomAD v4
1g.169529596T>CCA1233507F5c.5419+12A>G (n.5419+12A>G)
c.5434+12A>G (n.5434+12A>G)
c.5008+12A>G (n.5008+12A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529596T>GCA2581724501F5c.5419+12A>C (n.5419+12A>C)
c.5434+12A>C (n.5434+12A>C)
c.5008+12A>C (n.5008+12A>C)
1g.169529596T=CA1139773063F5c.5419+12A= (n.5419+12A=)
c.5434+12A= (n.5434+12A=)
c.5008+12A= (n.5008+12A=)
1g.169529596_169529597delinsACA32434612F5c.5419+11_5419+12delinsT (n.5419+11_5419+12delinsT)
c.5434+11_5434+12delinsT (n.5434+11_5434+12delinsT)
c.5008+11_5008+12delinsT (n.5008+11_5008+12delinsT)
 dbSNP
1g.169529596_169529597delinsCCA916336344F5c.5419+11_5419+12delinsG (n.5419+11_5419+12delinsG)
c.5434+11_5434+12delinsG (n.5434+11_5434+12delinsG)
c.5008+11_5008+12delinsG (n.5008+11_5008+12delinsG)
 dbSNP
1g.169529596_169529597delinsCACA32434629F5c.5419+11_5419+12delinsTG (n.5419+11_5419+12delinsTG)
c.5434+11_5434+12delinsTG (n.5434+11_5434+12delinsTG)
c.5008+11_5008+12delinsTG (n.5008+11_5008+12delinsTG)
 ClinVar dbSNP
1g.169529596_169529597delinsTGCA1144223829F5c.5419+11_5419+12delinsCA (n.5419+11_5419+12delinsCA)
c.5434+11_5434+12delinsCA (n.5434+11_5434+12delinsCA)
c.5008+11_5008+12delinsCA (n.5008+11_5008+12delinsCA)
1g.169529597delCA916336345F5c.5419+11del (n.5419+11del)
c.5434+11del (n.5434+11del)
c.5008+11del (n.5008+11del)
 dbSNP
1g.169529597G>ACA1233508F5c.5419+11C>T (n.5419+11C>T)
c.5434+11C>T (n.5434+11C>T)
c.5008+11C>T (n.5008+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529597G>CCA1233509F5c.5419+11C>G (n.5419+11C>G)
c.5434+11C>G (n.5434+11C>G)
c.5008+11C>G (n.5008+11C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529597G=CA1139773062F5c.5419+11C= (n.5419+11C=)
c.5434+11C= (n.5434+11C=)
c.5008+11C= (n.5008+11C=)
1g.169529597G>TCA2581724502F5c.5419+11C>A (n.5419+11C>A)
c.5434+11C>A (n.5434+11C>A)
c.5008+11C>A (n.5008+11C>A)
1g.169529598_169529599delinsAGCA1206135800F5c.5419+9_5419+10delinsCT (n.5419+9_5419+10delinsCT)
c.5434+9_5434+10delinsCT (n.5434+9_5434+10delinsCT)
c.5008+9_5008+10delinsCT (n.5008+9_5008+10delinsCT)
1g.169529599G>ACA2649035348F5c.5419+9C>T (n.5419+9C>T)
c.5434+9C>T (n.5434+9C>T)
c.5008+9C>T (n.5008+9C>T)
 gnomAD v4
1g.169529600delCA527131128F5c.5419+9del (n.5419+9del)
c.5434+9del (n.5434+9del)
c.5008+9del (n.5008+9del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529600G=CA1206135801F5c.5419+8C= (n.5419+8C=)
c.5434+8C= (n.5434+8C=)
c.5008+8C= (n.5008+8C=)
1g.169529600G>TCA527131129F5c.5419+8C>A (n.5419+8C>A)
c.5434+8C>A (n.5434+8C>A)
c.5008+8C>A (n.5008+8C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.169529601A=CA1206135802F5c.5419+7T= (n.5419+7T=)
c.5434+7T= (n.5434+7T=)
c.5008+7T= (n.5008+7T=)
1g.169529601A>GCA1233510F5c.5419+7T>C (n.5419+7T>C)
c.5434+7T>C (n.5434+7T>C)
c.5008+7T>C (n.5008+7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529603A>GCA2649035349F5c.5419+5T>C (n.5419+5T>C)
c.5434+5T>C (n.5434+5T>C)
c.5008+5T>C (n.5008+5T>C)
 gnomAD v4
1g.169529604A>CCA2649035350F5c.5419+4T>G (n.5419+4T>G)
c.5434+4T>G (n.5434+4T>G)
c.5008+4T>G (n.5008+4T>G)
 gnomAD v4
1g.169529605T>CCA1008974853F5c.5419+3A>G (n.5419+3A>G)
c.5434+3A>G (n.5434+3A>G)
c.5008+3A>G (n.5008+3A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.169529605T=CA1206135803F5c.5419+3A= (n.5419+3A=)
c.5434+3A= (n.5434+3A=)
c.5008+3A= (n.5008+3A=)
1g.169529606A>CCA343128976F5c.5419+2T>G (n.5419+2T>G)
c.5434+2T>G (n.5434+2T>G)
c.5008+2T>G (n.5008+2T>G)
1g.169529606A>GCA343128974F5c.5419+2T>C (n.5419+2T>C)
c.5434+2T>C (n.5434+2T>C)
c.5008+2T>C (n.5008+2T>C)
 gnomAD v4
1g.169529606A>TCA343128970F5c.5419+2T>A (n.5419+2T>A)
c.5434+2T>A (n.5434+2T>A)
c.5008+2T>A (n.5008+2T>A)
1g.169529607C>ACA343128977F5c.5419+1G>T (n.5419+1G>T)
c.5434+1G>T (n.5434+1G>T)
c.5008+1G>T (n.5008+1G>T)
 gnomAD v4
1g.169529607C>GCA343128978F5c.5419+1G>C (n.5419+1G>C)
c.5434+1G>C (n.5434+1G>C)
c.5008+1G>C (n.5008+1G>C)
1g.169529607C>TCA343128980F5c.5419+1G>A (n.5419+1G>A)
c.5434+1G>A (n.5434+1G>A)
c.5008+1G>A (n.5008+1G>A)
1g.169529608C>ACA1233511F5c.5419G>T (p.Ala1807Ser)
c.5434G>T (p.Ala1812Ser)
c.5008G>T (p.Ala1670Ser)
 dbSNP ExAC
1g.169529608C=CA1206135804F5c.5419G= (p.Ala1807=)
c.5434G= (p.Ala1812=)
c.5008G= (p.Ala1670=)
1g.169529608C>GCA343129004F5c.5419G>C (p.Ala1807Pro)
c.5434G>C (p.Ala1812Pro)
c.5008G>C (p.Ala1670Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.169529608C>TCA32434663F5c.5419G>A (p.Ala1807Thr)
c.5434G>A (p.Ala1812Thr)
c.5008G>A (p.Ala1670Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529609G>ACA1233512F5c.5418C>T (p.His1806=)
c.5433C>T (p.His1811=)
c.5007C>T (p.His1669=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529609G>CCA343129018F5c.5418C>G (p.His1806Gln)
c.5433C>G (p.His1811Gln)
c.5007C>G (p.His1669Gln)
1g.169529609G=CA1146645628F5c.5418C= (p.His1806=)
c.5433C= (p.His1811=)
c.5007C= (p.His1669=)
1g.169529609G>TCA343129016F5c.5418C>A (p.His1806Gln)
c.5433C>A (p.His1811Gln)
c.5007C>A (p.His1669Gln)
 gnomAD v4
1g.169529610T>ACA343129023F5c.5417A>T (p.His1806Leu)
c.5432A>T (p.His1811Leu)
c.5006A>T (p.His1669Leu)
 gnomAD v4
1g.169529610T>CCA343129029F5c.5417A>G (p.His1806Arg)
c.5432A>G (p.His1811Arg)
c.5006A>G (p.His1669Arg)
 gnomAD v4
1g.169529610T>GCA343129035F5c.5417A>C (p.His1806Pro)
c.5432A>C (p.His1811Pro)
c.5006A>C (p.His1669Pro)
1g.169529611G>ACA343129042F5c.5416C>T (p.His1806Tyr)
c.5431C>T (p.His1811Tyr)
c.5005C>T (p.His1669Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.169529611G>CCA343129047F5c.5416C>G (p.His1806Asp)
c.5431C>G (p.His1811Asp)
c.5005C>G (p.His1669Asp)
1g.169529611G=CA1206135805F5c.5416C= (p.His1806=)
c.5431C= (p.His1811=)
c.5005C= (p.His1669=)
1g.169529611G>TCA343129058F5c.5416C>A (p.His1806Asn)
c.5431C>A (p.His1811Asn)
c.5005C>A (p.His1669Asn)
 COSMIC
1g.169529612A>CCA343129069F5c.5415T>G (p.Phe1805Leu)
c.5430T>G (p.Phe1810Leu)
c.5004T>G (p.Phe1668Leu)
1g.169529612A>GCA421737261F5c.5415T>C (p.Phe1805=)
c.5430T>C (p.Phe1810=)
c.5004T>C (p.Phe1668=)
1g.169529612A>TCA343129073F5c.5415T>A (p.Phe1805Leu)
c.5430T>A (p.Phe1810Leu)
c.5004T>A (p.Phe1668Leu)
1g.169529613A>CCA343129083F5c.5414T>G (p.Phe1805Cys)
c.5429T>G (p.Phe1810Cys)
c.5003T>G (p.Phe1668Cys)
1g.169529613A>GCA343129086F5c.5414T>C (p.Phe1805Ser)
c.5429T>C (p.Phe1810Ser)
c.5003T>C (p.Phe1668Ser)
1g.169529613A>TCA343129096F5c.5414T>A (p.Phe1805Tyr)
c.5429T>A (p.Phe1810Tyr)
c.5003T>A (p.Phe1668Tyr)
1g.169529614A>CCA343129101F5c.5413T>G (p.Phe1805Val)
c.5428T>G (p.Phe1810Val)
c.5002T>G (p.Phe1668Val)
1g.169529614A>GCA343129105F5c.5413T>C (p.Phe1805Leu)
c.5428T>C (p.Phe1810Leu)
c.5002T>C (p.Phe1668Leu)
1g.169529614A>TCA343129103F5c.5413T>A (p.Phe1805Ile)
c.5428T>A (p.Phe1810Ile)
c.5002T>A (p.Phe1668Ile)
1g.169529615C>ACA343129109F5c.5412G>T (p.Glu1804Asp)
c.5427G>T (p.Glu1809Asp)
c.5001G>T (p.Glu1667Asp)
1g.169529615C>GCA343129113F5c.5412G>C (p.Glu1804Asp)
c.5427G>C (p.Glu1809Asp)
c.5001G>C (p.Glu1667Asp)
 gnomAD v4
1g.169529615C>TCA421737273F5c.5412G>A (p.Glu1804=)
c.5427G>A (p.Glu1809=)
c.5001G>A (p.Glu1667=)
1g.169529616T>ACA343129122F5c.5411A>T (p.Glu1804Val)
c.5426A>T (p.Glu1809Val)
c.5000A>T (p.Glu1667Val)
 gnomAD v4
1g.169529616T>CCA343129131F5c.5411A>G (p.Glu1804Gly)
c.5426A>G (p.Glu1809Gly)
c.5000A>G (p.Glu1667Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529616T>GCA343129135F5c.5411A>C (p.Glu1804Ala)
c.5426A>C (p.Glu1809Ala)
c.5000A>C (p.Glu1667Ala)
1g.169529616T=CA1206135806F5c.5411A= (p.Glu1804=)
c.5426A= (p.Glu1809=)
c.5000A= (p.Glu1667=)
1g.169529617C>ACA343129136F5c.5410G>T (p.Glu1804Ter)
c.5425G>T (p.Glu1809Ter)
c.4999G>T (p.Glu1667Ter)
1g.169529617C>GCA343129137F5c.5410G>C (p.Glu1804Gln)
c.5425G>C (p.Glu1809Gln)
c.4999G>C (p.Glu1667Gln)
1g.169529617C>TCA343129138F5c.5410G>A (p.Glu1804Lys)
c.5425G>A (p.Glu1809Lys)
c.4999G>A (p.Glu1667Lys)
1g.169529618A>CCA343129149F5c.5409T>G (p.His1803Gln)
c.5424T>G (p.His1808Gln)
c.4998T>G (p.His1666Gln)
 gnomAD v4 COSMIC
1g.169529618A>GCA421737287F5c.5409T>C (p.His1803=)
c.5424T>C (p.His1808=)
c.4998T>C (p.His1666=)
1g.169529618A>TCA343129144F5c.5409T>A (p.His1803Gln)
c.5424T>A (p.His1808Gln)
c.4998T>A (p.His1666Gln)
1g.169529619T>ACA343129156F5c.5408A>T (p.His1803Leu)
c.5423A>T (p.His1808Leu)
c.4997A>T (p.His1666Leu)
1g.169529619T>CCA1233513F5c.5408A>G (p.His1803Arg)
c.5423A>G (p.His1808Arg)
c.4997A>G (p.His1666Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529619T>GCA343129166F5c.5408A>C (p.His1803Pro)
c.5423A>C (p.His1808Pro)
c.4997A>C (p.His1666Pro)
1g.169529619T=CA1206135807F5c.5408A= (p.His1803=)
c.5423A= (p.His1808=)
c.4997A= (p.His1666=)
1g.169529620G>ACA343129177F5c.5407C>T (p.His1803Tyr)
c.5422C>T (p.His1808Tyr)
c.4996C>T (p.His1666Tyr)
1g.169529620G>CCA343129182F5c.5407C>G (p.His1803Asp)
c.5422C>G (p.His1808Asp)
c.4996C>G (p.His1666Asp)
1g.169529620G>TCA343129188F5c.5407C>A (p.His1803Asn)
c.5422C>A (p.His1808Asn)
c.4996C>A (p.His1666Asn)
1g.169529621G>ACA421737299F5c.5406C>T (p.Ser1802=)
c.5421C>T (p.Ser1807=)
c.4995C>T (p.Ser1665=)
 gnomAD v4
1g.169529621G>CCA421737301F5c.5406C>G (p.Ser1802=)
c.5421C>G (p.Ser1807=)
c.4995C>G (p.Ser1665=)
1g.169529621G>TCA421737303F5c.5406C>A (p.Ser1802=)
c.5421C>A (p.Ser1807=)
c.4995C>A (p.Ser1665=)
1g.169529622G>ACA343129191F5c.5405C>T (p.Ser1802Phe)
c.5420C>T (p.Ser1807Phe)
c.4994C>T (p.Ser1665Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.169529622G>CCA343129197F5c.5405C>G (p.Ser1802Cys)
c.5420C>G (p.Ser1807Cys)
c.4994C>G (p.Ser1665Cys)
1g.169529622G=CA1206135808F5c.5405C= (p.Ser1802=)
c.5420C= (p.Ser1807=)
c.4994C= (p.Ser1665=)
1g.169529622G>TCA343129193F5c.5405C>A (p.Ser1802Tyr)
c.5420C>A (p.Ser1807Tyr)
c.4994C>A (p.Ser1665Tyr)
1g.169529623A=CA1206135809F5c.5404T= (p.Ser1802=)
c.5419T= (p.Ser1807=)
c.4993T= (p.Ser1665=)
1g.169529623A>CCA343129201F5c.5404T>G (p.Ser1802Ala)
c.5419T>G (p.Ser1807Ala)
c.4993T>G (p.Ser1665Ala)
1g.169529623A>GCA343129202F5c.5404T>C (p.Ser1802Pro)
c.5419T>C (p.Ser1807Pro)
c.4993T>C (p.Ser1665Pro)
1g.169529623A>TCA1233515F5c.5404T>A (p.Ser1802Thr)
c.5419T>A (p.Ser1807Thr)
c.4993T>A (p.Ser1665Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529623_169529624insCCA2580061361F5c.5403_5404insG (p.Ser1802ValfsTer3)
c.5418_5419insG (p.Ser1807ValfsTer3)
c.4992_4993insG (p.Ser1665ValfsTer3)
 ClinVar dbSNP
1g.169529624T>ACA343129226F5c.5403A>T (p.Lys1801Asn)
c.5418A>T (p.Lys1806Asn)
c.4992A>T (p.Lys1664Asn)
1g.169529624T>CCA421737318F5c.5403A>G (p.Lys1801=)
c.5418A>G (p.Lys1806=)
c.4992A>G (p.Lys1664=)
1g.169529624T>GCA343129229F5c.5403A>C (p.Lys1801Asn)
c.5418A>C (p.Lys1806Asn)
c.4992A>C (p.Lys1664Asn)
1g.169529629dupCA1233514F5c.5403dup (p.Ser1802IlefsTer3)
c.5418dup (p.Ser1807IlefsTer3)
c.4992dup (p.Ser1665IlefsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169529629delCA2580061362F5c.5403del (p.Lys1801AsnfsTer11)
c.5418del (p.Lys1806AsnfsTer11)
c.4992del (p.Lys1664AsnfsTer11)
 ClinVar
1g.169529625T>ACA343129239F5c.5402A>T (p.Lys1801Ile)
c.5417A>T (p.Lys1806Ile)
c.4991A>T (p.Lys1664Ile)
1g.169529625T>CCA343129244F5c.5402A>G (p.Lys1801Arg)
c.5417A>G (p.Lys1806Arg)
c.4991A>G (p.Lys1664Arg)
1g.169529625T>GCA343129254F5c.5402A>C (p.Lys1801Thr)
c.5417A>C (p.Lys1806Thr)
c.4991A>C (p.Lys1664Thr)
1g.169529626T>ACA343129259F5c.5401A>T (p.Lys1801Ter)
c.5416A>T (p.Lys1806Ter)
c.4990A>T (p.Lys1664Ter)
1g.169529626T>CCA343129260F5c.5401A>G (p.Lys1801Glu)
c.5416A>G (p.Lys1806Glu)
c.4990A>G (p.Lys1664Glu)
1g.169529626T>GCA343129261F5c.5401A>C (p.Lys1801Gln)
c.5416A>C (p.Lys1806Gln)
c.4990A>C (p.Lys1664Gln)
1g.169529627T>ACA343129263F5c.5400A>T (p.Lys1800Asn)
c.5415A>T (p.Lys1805Asn)
c.4989A>T (p.Lys1663Asn)
1g.169529627T>CCA421737336F5c.5400A>G (p.Lys1800=)
c.5415A>G (p.Lys1805=)
c.4989A>G (p.Lys1663=)
1g.169529627T>GCA343129266F5c.5400A>C (p.Lys1800Asn)
c.5415A>C (p.Lys1805Asn)
c.4989A>C (p.Lys1663Asn)
1g.169529628T>ACA343129271F5c.5399A>T (p.Lys1800Ile)
c.5414A>T (p.Lys1805Ile)
c.4988A>T (p.Lys1663Ile)
1g.169529628T>CCA343129286F5c.5399A>G (p.Lys1800Arg)
c.5414A>G (p.Lys1805Arg)
c.4988A>G (p.Lys1663Arg)
1g.169529628T>GCA343129281F5c.5399A>C (p.Lys1800Thr)
c.5414A>C (p.Lys1805Thr)
c.4988A>C (p.Lys1663Thr)
1g.169529629T>ACA343129302F5c.5398A>T (p.Lys1800Ter)
c.5413A>T (p.Lys1805Ter)
c.4987A>T (p.Lys1663Ter)
1g.169529629T>CCA343129305F5c.5398A>G (p.Lys1800Glu)
c.5413A>G (p.Lys1805Glu)
c.4987A>G (p.Lys1663Glu)
1g.169529629T>GCA343129314F5c.5398A>C (p.Lys1800Gln)
c.5413A>C (p.Lys1805Gln)
c.4987A>C (p.Lys1663Gln)
1g.169529630C>ACA343129319F5c.5397G>T (p.Met1799Ile)
c.5412G>T (p.Met1804Ile)
c.4986G>T (p.Met1662Ile)
1g.169529630C>GCA343129322F5c.5397G>C (p.Met1799Ile)
c.5412G>C (p.Met1804Ile)
c.4986G>C (p.Met1662Ile)
1g.169529630C>TCA343129325F5c.5397G>A (p.Met1799Ile)
c.5412G>A (p.Met1804Ile)
c.4986G>A (p.Met1662Ile)
1g.169529631A>CCA343129328F5c.5396T>G (p.Met1799Arg)
c.5411T>G (p.Met1804Arg)
c.4985T>G (p.Met1662Arg)
1g.169529631A>GCA343129337F5c.5396T>C (p.Met1799Thr)
c.5411T>C (p.Met1804Thr)
c.4985T>C (p.Met1662Thr)
1g.169529631A>TCA343129341F5c.5396T>A (p.Met1799Lys)
c.5411T>A (p.Met1804Lys)
c.4985T>A (p.Met1662Lys)
1g.169529632T>ACA343129350F5c.5395A>T (p.Met1799Leu)
c.5410A>T (p.Met1804Leu)
c.4984A>T (p.Met1662Leu)
1g.169529632T>CCA343129355F5c.5395A>G (p.Met1799Val)
c.5410A>G (p.Met1804Val)
c.4984A>G (p.Met1662Val)
1g.169529632T>GCA343129357F5c.5395A>C (p.Met1799Leu)
c.5410A>C (p.Met1804Leu)
c.4984A>C (p.Met1662Leu)
1g.169529634_169529635insTTTTTCA2746574108F5c.5395_5396insAAAAA (p.Met1799LysfsTer3)
c.5410_5411insAAAAA (p.Met1804LysfsTer3)
c.4984_4985insAAAAA (p.Met1662LysfsTer3)
1g.169529633T>ACA343129362F5c.5394A>T (p.Glu1798Asp)
c.5409A>T (p.Glu1803Asp)
c.4983A>T (p.Glu1661Asp)
1g.169529633T>CCA421737387F5c.5394A>G (p.Glu1798=)
c.5409A>G (p.Glu1803=)
c.4983A>G (p.Glu1661=)
1g.169529633T>GCA343129366F5c.5394A>C (p.Glu1798Asp)
c.5409A>C (p.Glu1803Asp)
c.4983A>C (p.Glu1661Asp)
1g.169529634T>ACA343129396F5c.5393A>T (p.Glu1798Val)
c.5408A>T (p.Glu1803Val)
c.4982A>T (p.Glu1661Val)
1g.169529634T>CCA343129398F5c.5393A>G (p.Glu1798Gly)
c.5408A>G (p.Glu1803Gly)
c.4982A>G (p.Glu1661Gly)
1g.169529634T>GCA343129407F5c.5393A>C (p.Glu1798Ala)
c.5408A>C (p.Glu1803Ala)
c.4982A>C (p.Glu1661Ala)
1g.169529635C>ACA343129413F5c.5392G>T (p.Glu1798Ter)
c.5407G>T (p.Glu1803Ter)
c.4981G>T (p.Glu1661Ter)
1g.169529635C=CA1144229041F5c.5392G= (p.Glu1798=)
c.5407G= (p.Glu1803=)
c.4981G= (p.Glu1661=)
1g.169529635C>GCA343129438F5c.5392G>C (p.Glu1798Gln)
c.5407G>C (p.Glu1803Gln)
c.4981G>C (p.Glu1661Gln)
 gnomAD v4
1g.169529635C>TCA215971F5c.5392G>A (p.Glu1798Lys)
c.5407G>A (p.Glu1803Lys)
c.4981G>A (p.Glu1661Lys)
 ClinVar dbSNP
1g.169529636T>ACA421737410F5c.5391A>T (p.Ser1797=)
c.5406A>T (p.Ser1802=)
c.4980A>T (p.Ser1660=)
1g.169529636T>CCA421737412F5c.5391A>G (p.Ser1797=)
c.5406A>G (p.Ser1802=)
c.4980A>G (p.Ser1660=)
1g.169529636T>GCA421737414F5c.5391A>C (p.Ser1797=)
c.5406A>C (p.Ser1802=)
c.4980A>C (p.Ser1660=)
1g.169529637G>ACA343129440F5c.5390C>T (p.Ser1797Leu)
c.5405C>T (p.Ser1802Leu)
c.4979C>T (p.Ser1660Leu)
1g.169529637G>CCA343129444F5c.5390C>G (p.Ser1797Ter)
c.5405C>G (p.Ser1802Ter)
c.4979C>G (p.Ser1660Ter)
1g.169529637G>TCA343129446F5c.5390C>A (p.Ser1797Ter)
c.5405C>A (p.Ser1802Ter)
c.4979C>A (p.Ser1660Ter)
1g.169529638A>CCA343129448F5c.5389T>G (p.Ser1797Ala)
c.5404T>G (p.Ser1802Ala)
c.4978T>G (p.Ser1660Ala)
1g.169529638A>GCA343129453F5c.5389T>C (p.Ser1797Pro)
c.5404T>C (p.Ser1802Pro)
c.4978T>C (p.Ser1660Pro)
1g.169529638A>TCA343129467F5c.5389T>A (p.Ser1797Thr)
c.5404T>A (p.Ser1802Thr)
c.4978T>A (p.Ser1660Thr)
1g.169529639G>ACA421737427F5c.5388C>T (p.Ser1796=)
c.5403C>T (p.Ser1801=)
c.4977C>T (p.Ser1659=)
1g.169529639G>CCA421737431F5c.5388C>G (p.Ser1796=)
c.5403C>G (p.Ser1801=)
c.4977C>G (p.Ser1659=)
1g.169529639G>TCA421737428F5c.5388C>A (p.Ser1796=)
c.5403C>A (p.Ser1801=)
c.4977C>A (p.Ser1659=)
1g.169529640G>ACA343129475F5c.5387C>T (p.Ser1796Phe)
c.5402C>T (p.Ser1801Phe)
c.4976C>T (p.Ser1659Phe)
 dbSNP gnomAD v4
1g.169529640G>CCA343129468F5c.5387C>G (p.Ser1796Cys)
c.5402C>G (p.Ser1801Cys)
c.4976C>G (p.Ser1659Cys)
1g.169529640G=CA1206135810F5c.5387C= (p.Ser1796=)
c.5402C= (p.Ser1801=)
c.4976C= (p.Ser1659=)
1g.169529640G>TCA343129469F5c.5387C>A (p.Ser1796Tyr)
c.5402C>A (p.Ser1801Tyr)
c.4976C>A (p.Ser1659Tyr)
1g.169529641A=CA1206135811F5c.5386T= (p.Ser1796=)
c.5401T= (p.Ser1801=)
c.4975T= (p.Ser1659=)
1g.169529641A>CCA343129479F5c.5386T>G (p.Ser1796Ala)
c.5401T>G (p.Ser1801Ala)
c.4975T>G (p.Ser1659Ala)
 gnomAD v4
1g.169529641A>GCA343129481F5c.5386T>C (p.Ser1796Pro)
c.5401T>C (p.Ser1801Pro)
c.4975T>C (p.Ser1659Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.169529641A>TCA343129480F5c.5386T>A (p.Ser1796Thr)
c.5401T>A (p.Ser1801Thr)
c.4975T>A (p.Ser1659Thr)
 gnomAD v4
1g.169529642T>ACA421737440F5c.5385A>T (p.Thr1795=)
c.5400A>T (p.Thr1800=)
c.4974A>T (p.Thr1658=)
1g.169529642T>CCA421737442F5c.5385A>G (p.Thr1795=)
c.5400A>G (p.Thr1800=)
c.4974A>G (p.Thr1658=)
1g.169529642T>GCA421737444F5c.5385A>C (p.Thr1795=)
c.5400A>C (p.Thr1800=)
c.4974A>C (p.Thr1658=)
1g.169529643G>ACA343129485F5c.5384C>T (p.Thr1795Ile)
c.5399C>T (p.Thr1800Ile)
c.4973C>T (p.Thr1658Ile)
1g.169529643G>CCA343129491F5c.5384C>G (p.Thr1795Arg)
c.5399C>G (p.Thr1800Arg)
c.4973C>G (p.Thr1658Arg)
1g.169529643G>TCA343129496F5c.5384C>A (p.Thr1795Lys)
c.5399C>A (p.Thr1800Lys)
c.4973C>A (p.Thr1658Lys)

Number of alleles fetched