Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2285377_2285410delCA2631186121ABCA3c.3483+32_3483+65del (n.3483+32_3483+65del)
c.3309+32_3309+65del (n.3309+32_3309+65del)
 gnomAD v4
16g.2285405C>ACA7840499ABCA3c.3483+37G>T (n.3483+37G>T)
c.3309+37G>T (n.3309+37G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2285405C=CA2202149684ABCA3c.3483+37G= (n.3483+37G=)
c.3309+37G= (n.3309+37G=)
16g.2285405C>GCA7840500ABCA3c.3483+37G>C (n.3483+37G>C)
c.3309+37G>C (n.3309+37G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2285405C>TCA2631186154ABCA3c.3483+37G>A (n.3483+37G>A)
c.3309+37G>A (n.3309+37G>A)
 gnomAD v4
16g.2285407G>ACA620708410ABCA3c.3483+35C>T (n.3483+35C>T)
c.3309+35C>T (n.3309+35C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2285407G>CCA2631186158ABCA3c.3483+35C>G (n.3483+35C>G)
c.3309+35C>G (n.3309+35C>G)
 gnomAD v4
16g.2285407G=CA2202149685ABCA3c.3483+35C= (n.3483+35C=)
c.3309+35C= (n.3309+35C=)
16g.2285407G>TCA2202149686ABCA3c.3483+35C>A (n.3483+35C>A)
c.3309+35C>A (n.3309+35C>A)
 dbSNP
16g.2285408C=CA2202149687ABCA3c.3483+34G= (n.3483+34G=)
c.3309+34G= (n.3309+34G=)
16g.2285408C>TCA620708412ABCA3c.3483+34G>A (n.3483+34G>A)
c.3309+34G>A (n.3309+34G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.2285409A=CA2202149688ABCA3c.3483+33T= (n.3483+33T=)
c.3309+33T= (n.3309+33T=)
16g.2285409A>CCA620708414ABCA3c.3483+33T>G (n.3483+33T>G)
c.3309+33T>G (n.3309+33T>G)
 dbSNP gnomAD v2 gnomAD v4
16g.2285409A>GCA2631186163ABCA3c.3483+33T>C (n.3483+33T>C)
c.3309+33T>C (n.3309+33T>C)
 gnomAD v4
16g.2285410G>ACA7840501ABCA3c.3483+32C>T (n.3483+32C>T)
c.3309+32C>T (n.3309+32C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2285410G=CA2202149689ABCA3c.3483+32C= (n.3483+32C=)
c.3309+32C= (n.3309+32C=)
16g.2285410G>TCA2631186170ABCA3c.3483+32C>A (n.3483+32C>A)
c.3309+32C>A (n.3309+32C>A)
 gnomAD v4
16g.2285413delCA2631186167ABCA3c.3483+32del (n.3483+32del)
c.3309+32del (n.3309+32del)
 gnomAD v4
16g.2285411G>ACA2202149691ABCA3c.3483+31C>T (n.3483+31C>T)
c.3309+31C>T (n.3309+31C>T)
 dbSNP gnomAD v4
16g.2285411G>CCA2202149692ABCA3c.3483+31C>G (n.3483+31C>G)
c.3309+31C>G (n.3309+31C>G)
 dbSNP
16g.2285411G=CA2202149690ABCA3c.3483+31C= (n.3483+31C=)
c.3309+31C= (n.3309+31C=)
16g.2285411G>TCA2631186175ABCA3c.3483+31C>A (n.3483+31C>A)
c.3309+31C>A (n.3309+31C>A)
 gnomAD v4
16g.2285412G>ACA620708415ABCA3c.3483+30C>T (n.3483+30C>T)
c.3309+30C>T (n.3309+30C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2285412G>CCA620708416ABCA3c.3483+30C>G (n.3483+30C>G)
c.3309+30C>G (n.3309+30C>G)
 dbSNP gnomAD v2 gnomAD v4
16g.2285412G=CA2202149693ABCA3c.3483+30C= (n.3483+30C=)
c.3309+30C= (n.3309+30C=)
16g.2285413G>ACA7840502ABCA3c.3483+29C>T (n.3483+29C>T)
c.3309+29C>T (n.3309+29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2285413G>CCA2575882545ABCA3c.3483+29C>G (n.3483+29C>G)
c.3309+29C>G (n.3309+29C>G)
16g.2285413G=CA2202149694ABCA3c.3483+29C= (n.3483+29C=)
c.3309+29C= (n.3309+29C=)
16g.2285415A>GCA2805586629ABCA3c.3483+27T>C (n.3483+27T>C)
c.3309+27T>C (n.3309+27T>C)
16g.2285416C=CA2202149695ABCA3c.3483+26G= (n.3483+26G=)
c.3309+26G= (n.3309+26G=)
16g.2285416C>TCA7840503ABCA3c.3483+26G>A (n.3483+26G>A)
c.3309+26G>A (n.3309+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2285417G>ACA7840504ABCA3c.3483+25C>T (n.3483+25C>T)
c.3309+25C>T (n.3309+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2285417G=CA2202149696ABCA3c.3483+25C= (n.3483+25C=)
c.3309+25C= (n.3309+25C=)
16g.2285417G>TCA2631186182ABCA3c.3483+25C>A (n.3483+25C>A)
c.3309+25C>A (n.3309+25C>A)
 gnomAD v4
16g.2285418G>TCA2631186185ABCA3c.3483+24C>A (n.3483+24C>A)
c.3309+24C>A (n.3309+24C>A)
 gnomAD v4
16g.2285421C>ACA2631186186ABCA3c.3483+21G>T (n.3483+21G>T)
c.3309+21G>T (n.3309+21G>T)
 gnomAD v4
16g.2285422C>ACA2631186187ABCA3c.3483+20G>T (n.3483+20G>T)
c.3309+20G>T (n.3309+20G>T)
 gnomAD v4
16g.2285422C=CA2202149697ABCA3c.3483+20G= (n.3483+20G=)
c.3309+20G= (n.3309+20G=)
16g.2285422C>TCA276822599ABCA3c.3483+20G>A (n.3483+20G>A)
c.3309+20G>A (n.3309+20G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2285423A>GCA2805586630ABCA3c.3483+19T>C (n.3483+19T>C)
c.3309+19T>C (n.3309+19T>C)
16g.2285423A>TCA2631186190ABCA3c.3483+19T>A (n.3483+19T>A)
c.3309+19T>A (n.3309+19T>A)
 gnomAD v4
16g.2285424G>ACA620708417ABCA3c.3483+18C>T (n.3483+18C>T)
c.3309+18C>T (n.3309+18C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2285424G=CA2202149698ABCA3c.3483+18C= (n.3483+18C=)
c.3309+18C= (n.3309+18C=)
16g.2285424G>TCA2631186195ABCA3c.3483+18C>A (n.3483+18C>A)
c.3309+18C>A (n.3309+18C>A)
 gnomAD v4
16g.2285425C>ACA2631186198ABCA3c.3483+17G>T (n.3483+17G>T)
c.3309+17G>T (n.3309+17G>T)
 gnomAD v4
16g.2285427C>ACA2631186203ABCA3c.3483+15G>T (n.3483+15G>T)
c.3309+15G>T (n.3309+15G>T)
 gnomAD v4
16g.2285427C=CA2202149699ABCA3c.3483+15G= (n.3483+15G=)
c.3309+15G= (n.3309+15G=)
16g.2285427C>TCA7840505ABCA3c.3483+15G>A (n.3483+15G>A)
c.3309+15G>A (n.3309+15G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2285429delCA2631186202ABCA3c.3483+15del (n.3483+15del)
c.3309+15del (n.3309+15del)
 gnomAD v4
16g.2285428C>ACA2631186206ABCA3c.3483+14G>T (n.3483+14G>T)
c.3309+14G>T (n.3309+14G>T)
 gnomAD v4
16g.2285428C>TCA2631186207ABCA3c.3483+14G>A (n.3483+14G>A)
c.3309+14G>A (n.3309+14G>A)
 gnomAD v4
16g.2285429C=CA2202149700ABCA3c.3483+13G= (n.3483+13G=)
c.3309+13G= (n.3309+13G=)
16g.2285429C>GCA276822603ABCA3c.3483+13G>C (n.3483+13G>C)
c.3309+13G>C (n.3309+13G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.2285429C>TCA7840506ABCA3c.3483+13G>A (n.3483+13G>A)
c.3309+13G>A (n.3309+13G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2285431C>ACA2631186217ABCA3c.3483+11G>T (n.3483+11G>T)
c.3309+11G>T (n.3309+11G>T)
 gnomAD v4
16g.2285431C>TCA2575882546ABCA3c.3483+11G>A (n.3483+11G>A)
c.3309+11G>A (n.3309+11G>A)
 gnomAD v4
16g.2285431_2285451delCA2631186216ABCA3c.3474_3483+11del
c.3300_3309+11del
 gnomAD v4
16g.2285432C>ACA2631186223ABCA3c.3483+10G>T (n.3483+10G>T)
c.3309+10G>T (n.3309+10G>T)
 gnomAD v4
16g.2285432C=CA2202149701ABCA3c.3483+10G= (n.3483+10G=)
c.3309+10G= (n.3309+10G=)
16g.2285432C>TCA10637342ABCA3c.3483+10G>A (n.3483+10G>A)
c.3309+10G>A (n.3309+10G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2285433G>ACA7840507ABCA3c.3483+9C>T (n.3483+9C>T)
c.3309+9C>T (n.3309+9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2285433G=CA2202149702ABCA3c.3483+9C= (n.3483+9C=)
c.3309+9C= (n.3309+9C=)
16g.2285434G>ACA620708418ABCA3c.3483+8C>T (n.3483+8C>T)
c.3309+8C>T (n.3309+8C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2285434G>CCA620708419ABCA3c.3483+8C>G (n.3483+8C>G)
c.3309+8C>G (n.3309+8C>G)
 dbSNP gnomAD v2 gnomAD v4
16g.2285434G=CA2202149703ABCA3c.3483+8C= (n.3483+8C=)
c.3309+8C= (n.3309+8C=)
16g.2285435C=CA2202149704ABCA3c.3483+7G= (n.3483+7G=)
c.3309+7G= (n.3309+7G=)
16g.2285435C>GCA2631186232ABCA3c.3483+7G>C (n.3483+7G>C)
c.3309+7G>C (n.3309+7G>C)
 gnomAD v4
16g.2285435C>TCA7840508ABCA3c.3483+7G>A (n.3483+7G>A)
c.3309+7G>A (n.3309+7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2285435_2285436insTCA2631186234ABCA3c.3483+6_3483+7insA (n.3483+6_3483+7insA)
c.3309+6_3309+7insA (n.3309+6_3309+7insA)
 gnomAD v4
16g.2285436G>ACA620708420ABCA3c.3483+6C>T (n.3483+6C>T)
c.3309+6C>T (n.3309+6C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2285436G=CA2202149705ABCA3c.3483+6C= (n.3483+6C=)
c.3309+6C= (n.3309+6C=)
16g.2285436G>TCA2631186235ABCA3c.3483+6C>A (n.3483+6C>A)
c.3309+6C>A (n.3309+6C>A)
 gnomAD v4
16g.2285437C=CA2202149706ABCA3c.3483+5G= (n.3483+5G=)
c.3309+5G= (n.3309+5G=)
16g.2285437C>GCA2202149707ABCA3c.3483+5G>C (n.3483+5G>C)
c.3309+5G>C (n.3309+5G>C)
 dbSNP
16g.2285440A>CCA394316469ABCA3c.3483+2T>G (n.3483+2T>G)
c.3309+2T>G (n.3309+2T>G)
 gnomAD v4
16g.2285440A>GCA394316470ABCA3c.3483+2T>C (n.3483+2T>C)
c.3309+2T>C (n.3309+2T>C)
16g.2285440A>TCA394316471ABCA3c.3483+2T>A (n.3483+2T>A)
c.3309+2T>A (n.3309+2T>A)
16g.2285441C>ACA394316474ABCA3c.3483+1G>T (n.3483+1G>T)
c.3309+1G>T (n.3309+1G>T)
16g.2285441C>GCA394316477ABCA3c.3483+1G>C (n.3483+1G>C)
c.3309+1G>C (n.3309+1G>C)
16g.2285441C>TCA394316475ABCA3c.3483+1G>A (n.3483+1G>A)
c.3309+1G>A (n.3309+1G>A)
 ClinVar
16g.2285441_2285444delinsCCAGCA2202149708ABCA3c.3481_3483+1delinsCTGG
c.3307_3309+1delinsCTGG
16g.2285442C>ACA493123603ABCA3c.3483G>T (p.Leu1161=)
c.3309G>T (p.Leu1103=)
 gnomAD v4
16g.2285442C>GCA493123609ABCA3c.3483G>C (p.Leu1161=)
c.3309G>C (p.Leu1103=)
16g.2285442C>TCA493123614ABCA3c.3483G>A (p.Leu1161=)
c.3309G>A (p.Leu1103=)
 gnomAD v4
16g.2285451_2285453delCA7840509ABCA3c.3481_3483del (p.Leu1161del)
c.3307_3309del (p.Leu1103del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2285443A>CCA394316479ABCA3c.3482T>G (p.Leu1161Arg)
c.3308T>G (p.Leu1103Arg)
16g.2285443A>GCA394316480ABCA3c.3482T>C (p.Leu1161Pro)
c.3308T>C (p.Leu1103Pro)
16g.2285443A>TCA394316482ABCA3c.3482T>A (p.Leu1161Gln)
c.3308T>A (p.Leu1103Gln)
16g.2285444G>ACA493123627ABCA3c.3481C>T (p.Leu1161=)
c.3307C>T (p.Leu1103=)
16g.2285444G>CCA7840510ABCA3c.3481C>G (p.Leu1161Val)
c.3307C>G (p.Leu1103Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2285444G=CA2202149709ABCA3c.3481C= (p.Leu1161=)
c.3307C= (p.Leu1103=)
16g.2285444G>TCA394316484ABCA3c.3481C>A (p.Leu1161Met)
c.3307C>A (p.Leu1103Met)
 gnomAD v4
16g.2285445C>ACA493123637ABCA3c.3480G>T (p.Leu1160=)
c.3306G>T (p.Leu1102=)
16g.2285445C>GCA493123647ABCA3c.3480G>C (p.Leu1160=)
c.3306G>C (p.Leu1102=)
16g.2285445C>TCA493123649ABCA3c.3480G>A (p.Leu1160=)
c.3306G>A (p.Leu1102=)
16g.2285446A>CCA394316486ABCA3c.3479T>G (p.Leu1160Arg)
c.3305T>G (p.Leu1102Arg)
16g.2285446A>GCA394316487ABCA3c.3479T>C (p.Leu1160Pro)
c.3305T>C (p.Leu1102Pro)
16g.2285446A>TCA394316489ABCA3c.3479T>A (p.Leu1160Gln)
c.3305T>A (p.Leu1102Gln)
16g.2285447G>ACA493123663ABCA3c.3478C>T (p.Leu1160=)
c.3304C>T (p.Leu1102=)
 gnomAD v4
16g.2285447G>CCA394316491ABCA3c.3478C>G (p.Leu1160Val)
c.3304C>G (p.Leu1102Val)
 gnomAD v4
16g.2285447G=CA2202149710ABCA3c.3478C= (p.Leu1160=)
c.3304C= (p.Leu1102=)
16g.2285447G>TCA394316493ABCA3c.3478C>A (p.Leu1160Met)
c.3304C>A (p.Leu1102Met)
16g.2285448C>ACA493123690ABCA3c.3477G>T (p.Leu1159=)
c.3303G>T (p.Leu1101=)
16g.2285448C>GCA493123693ABCA3c.3477G>C (p.Leu1159=)
c.3303G>C (p.Leu1101=)
16g.2285448C>TCA493123697ABCA3c.3477G>A (p.Leu1159=)
c.3303G>A (p.Leu1101=)
16g.2285448_2285449insGTCCA2202149711ABCA3c.3477_3478insACG (p.Leu1159_Leu1160insThr)
c.3303_3304insACG (p.Leu1101_Leu1102insThr)
 dbSNP
16g.2285449A>CCA394316498ABCA3c.3476T>G (p.Leu1159Arg)
c.3302T>G (p.Leu1101Arg)
16g.2285449A>GCA394316496ABCA3c.3476T>C (p.Leu1159Pro)
c.3302T>C (p.Leu1101Pro)
16g.2285449A>TCA394316494ABCA3c.3476T>A (p.Leu1159Gln)
c.3302T>A (p.Leu1101Gln)
16g.2285450G>ACA493123714ABCA3c.3475C>T (p.Leu1159=)
c.3301C>T (p.Leu1101=)
 gnomAD v4
16g.2285450G>CCA394316499ABCA3c.3475C>G (p.Leu1159Val)
c.3301C>G (p.Leu1101Val)
16g.2285450G>TCA394316501ABCA3c.3475C>A (p.Leu1159Met)
c.3301C>A (p.Leu1101Met)
16g.2285451C>ACA493123722ABCA3c.3474G>T (p.Leu1158=)
c.3300G>T (p.Leu1100=)
16g.2285451C=CA2202149712ABCA3c.3474G= (p.Leu1158=)
c.3300G= (p.Leu1100=)
16g.2285451C>GCA493123731ABCA3c.3474G>C (p.Leu1158=)
c.3300G>C (p.Leu1100=)
16g.2285451C>TCA493123737ABCA3c.3474G>A (p.Leu1158=)
c.3300G>A (p.Leu1100=)
 ClinVar dbSNP
16g.2285451_2285452insGGATCA2202149713ABCA3c.3473_3474insATCC (p.Leu1159SerfsTer8)
c.3299_3300insATCC (p.Leu1101SerfsTer8)
 dbSNP
16g.2285452A>CCA394316502ABCA3c.3473T>G (p.Leu1158Arg)
c.3299T>G (p.Leu1100Arg)
16g.2285452A>GCA394316504ABCA3c.3473T>C (p.Leu1158Pro)
c.3299T>C (p.Leu1100Pro)
16g.2285452A>TCA394316506ABCA3c.3473T>A (p.Leu1158Gln)
c.3299T>A (p.Leu1100Gln)
16g.2285453G>ACA493123766ABCA3c.3472C>T (p.Leu1158=)
c.3298C>T (p.Leu1100=)
16g.2285453G>CCA394316507ABCA3c.3472C>G (p.Leu1158Val)
c.3298C>G (p.Leu1100Val)
16g.2285453G>TCA394316509ABCA3c.3472C>A (p.Leu1158Met)
c.3298C>A (p.Leu1100Met)
 gnomAD v4
16g.2285454A>CCA394316511ABCA3c.3471T>G (p.Ser1157Arg)
c.3297T>G (p.Ser1099Arg)
16g.2285454A>GCA493123791ABCA3c.3471T>C (p.Ser1157=)
c.3297T>C (p.Ser1099=)
16g.2285454A>TCA394316513ABCA3c.3471T>A (p.Ser1157Arg)
c.3297T>A (p.Ser1099Arg)
16g.2285455C>ACA7840511ABCA3c.3470G>T (p.Ser1157Ile)
c.3296G>T (p.Ser1099Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2285455C=CA2202149714ABCA3c.3470G= (p.Ser1157=)
c.3296G= (p.Ser1099=)
16g.2285455C>GCA394316515ABCA3c.3470G>C (p.Ser1157Thr)
c.3296G>C (p.Ser1099Thr)
16g.2285455C>TCA394316516ABCA3c.3470G>A (p.Ser1157Asn)
c.3296G>A (p.Ser1099Asn)
16g.2285456T>ACA394316520ABCA3c.3469A>T (p.Ser1157Cys)
c.3295A>T (p.Ser1099Cys)
16g.2285456T>CCA394316519ABCA3c.3469A>G (p.Ser1157Gly)
c.3295A>G (p.Ser1099Gly)
 gnomAD v4
16g.2285456T>GCA394316518ABCA3c.3469A>C (p.Ser1157Arg)
c.3295A>C (p.Ser1099Arg)
16g.2285457G>ACA493123871ABCA3c.3468C>T (p.Pro1156=)
c.3294C>T (p.Pro1098=)
 dbSNP
16g.2285457G>CCA493123868ABCA3c.3468C>G (p.Pro1156=)
c.3294C>G (p.Pro1098=)
16g.2285457G=CA2202149715ABCA3c.3468C= (p.Pro1156=)
c.3294C= (p.Pro1098=)
16g.2285457G>TCA493123862ABCA3c.3468C>A (p.Pro1156=)
c.3294C>A (p.Pro1098=)
16g.2285458G>ACA394316521ABCA3c.3467C>T (p.Pro1156Leu)
c.3293C>T (p.Pro1098Leu)
 gnomAD v4
16g.2285458G>CCA394316522ABCA3c.3467C>G (p.Pro1156Arg)
c.3293C>G (p.Pro1098Arg)
16g.2285458G>TCA394316523ABCA3c.3467C>A (p.Pro1156His)
c.3293C>A (p.Pro1098His)
16g.2285459G>ACA7840512ABCA3c.3466C>T (p.Pro1156Ser)
c.3292C>T (p.Pro1098Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2285459G>CCA394316526ABCA3c.3466C>G (p.Pro1156Ala)
c.3292C>G (p.Pro1098Ala)
 dbSNP
16g.2285459G=CA2202149716ABCA3c.3466C= (p.Pro1156=)
c.3292C= (p.Pro1098=)
16g.2285459G>TCA394316528ABCA3c.3466C>A (p.Pro1156Thr)
c.3292C>A (p.Pro1098Thr)
16g.2285460G>ACA493123891ABCA3c.3465C>T (p.Ile1155=)
c.3291C>T (p.Ile1097=)
 gnomAD v4
16g.2285460G>CCA394316529ABCA3c.3465C>G (p.Ile1155Met)
c.3291C>G (p.Ile1097Met)
 dbSNP gnomAD v2 gnomAD v4
16g.2285460G=CA2202149717ABCA3c.3465C= (p.Ile1155=)
c.3291C= (p.Ile1097=)
16g.2285460G>TCA493123893ABCA3c.3465C>A (p.Ile1155=)
c.3291C>A (p.Ile1097=)
 dbSNP gnomAD v2 gnomAD v4
16g.2285461A>CCA394316531ABCA3c.3464T>G (p.Ile1155Ser)
c.3290T>G (p.Ile1097Ser)
16g.2285461A>GCA394316533ABCA3c.3464T>C (p.Ile1155Thr)
c.3290T>C (p.Ile1097Thr)
16g.2285461A>TCA394316535ABCA3c.3464T>A (p.Ile1155Asn)
c.3290T>A (p.Ile1097Asn)
16g.2285462T>ACA394316536ABCA3c.3463A>T (p.Ile1155Phe)
c.3289A>T (p.Ile1097Phe)
16g.2285462T>CCA394316537ABCA3c.3463A>G (p.Ile1155Val)
c.3289A>G (p.Ile1097Val)
16g.2285462T>GCA394316538ABCA3c.3463A>C (p.Ile1155Leu)
c.3289A>C (p.Ile1097Leu)
16g.2285463G>ACA493123945ABCA3c.3462C>T (p.Leu1154=)
c.3288C>T (p.Leu1096=)
 dbSNP gnomAD v4
16g.2285463G>CCA493123947ABCA3c.3462C>G (p.Leu1154=)
c.3288C>G (p.Leu1096=)
16g.2285463G=CA2202149718ABCA3c.3462C= (p.Leu1154=)
c.3288C= (p.Leu1096=)
16g.2285463G>TCA493123950ABCA3c.3462C>A (p.Leu1154=)
c.3288C>A (p.Leu1096=)
16g.2285464A>CCA394316541ABCA3c.3461T>G (p.Leu1154Arg)
c.3287T>G (p.Leu1096Arg)
16g.2285464A>GCA394316540ABCA3c.3461T>C (p.Leu1154Pro)
c.3287T>C (p.Leu1096Pro)
16g.2285464A>TCA394316539ABCA3c.3461T>A (p.Leu1154His)
c.3287T>A (p.Leu1096His)
16g.2285465G>ACA394316542ABCA3c.3460C>T (p.Leu1154Phe)
c.3286C>T (p.Leu1096Phe)
 dbSNP gnomAD v2 gnomAD v4
16g.2285465G>CCA394316543ABCA3c.3460C>G (p.Leu1154Val)
c.3286C>G (p.Leu1096Val)
16g.2285465G=CA2202149719ABCA3c.3460C= (p.Leu1154=)
c.3286C= (p.Leu1096=)
16g.2285465G>TCA394316544ABCA3c.3460C>A (p.Leu1154Ile)
c.3286C>A (p.Leu1096Ile)
16g.2285466G>ACA493123980ABCA3c.3459C>T (p.Phe1153=)
c.3285C>T (p.Phe1095=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2285466G>CCA394316545ABCA3c.3459C>G (p.Phe1153Leu)
c.3285C>G (p.Phe1095Leu)
16g.2285466G=CA2202149720ABCA3c.3459C= (p.Phe1153=)
c.3285C= (p.Phe1095=)
16g.2285466G>TCA394316546ABCA3c.3459C>A (p.Phe1153Leu)
c.3285C>A (p.Phe1095Leu)
16g.2285467A>CCA394316547ABCA3c.3458T>G (p.Phe1153Cys)
c.3284T>G (p.Phe1095Cys)
 gnomAD v4
16g.2285467A>GCA394316548ABCA3c.3458T>C (p.Phe1153Ser)
c.3284T>C (p.Phe1095Ser)
 gnomAD v4
16g.2285467A>TCA394316549ABCA3c.3458T>A (p.Phe1153Tyr)
c.3284T>A (p.Phe1095Tyr)
16g.2285468A=CA2202149721ABCA3c.3457T= (p.Phe1153=)
c.3283T= (p.Phe1095=)
16g.2285468A>CCA394316550ABCA3c.3457T>G (p.Phe1153Val)
c.3283T>G (p.Phe1095Val)
16g.2285468A>GCA394316551ABCA3c.3457T>C (p.Phe1153Leu)
c.3283T>C (p.Phe1095Leu)
16g.2285468A>TCA394316552ABCA3c.3457T>A (p.Phe1153Ile)
c.3283T>A (p.Phe1095Ile)
 dbSNP gnomAD v3 gnomAD v4
16g.2285469G>ACA493124021ABCA3c.3456C>T (p.Ser1152=)
c.3282C>T (p.Ser1094=)
16g.2285469G>CCA493124025ABCA3c.3456C>G (p.Ser1152=)
c.3282C>G (p.Ser1094=)
16g.2285469G>TCA493124042ABCA3c.3456C>A (p.Ser1152=)
c.3282C>A (p.Ser1094=)
16g.2285470G>ACA394316553ABCA3c.3455C>T (p.Ser1152Phe)
c.3281C>T (p.Ser1094Phe)
16g.2285470G>CCA394316554ABCA3c.3455C>G (p.Ser1152Cys)
c.3281C>G (p.Ser1094Cys)
 dbSNP COSMIC
16g.2285470G=CA2202149722ABCA3c.3455C= (p.Ser1152=)
c.3281C= (p.Ser1094=)
16g.2285470G>TCA394316555ABCA3c.3455C>A (p.Ser1152Tyr)
c.3281C>A (p.Ser1094Tyr)
 gnomAD v4
16g.2285471A>CCA394316557ABCA3c.3454T>G (p.Ser1152Ala)
c.3280T>G (p.Ser1094Ala)
16g.2285471A>GCA394316558ABCA3c.3454T>C (p.Ser1152Pro)
c.3280T>C (p.Ser1094Pro)
16g.2285471A>TCA394316556ABCA3c.3454T>A (p.Ser1152Thr)
c.3280T>A (p.Ser1094Thr)
16g.2285472G>ACA493124057ABCA3c.3453C>T (p.Ile1151=)
c.3279C>T (p.Ile1093=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2285472G>CCA394316559ABCA3c.3453C>G (p.Ile1151Met)
c.3279C>G (p.Ile1093Met)
 dbSNP gnomAD v4
16g.2285472G=CA2202149723ABCA3c.3453C= (p.Ile1151=)
c.3279C= (p.Ile1093=)
16g.2285472G>TCA493124059ABCA3c.3453C>A (p.Ile1151=)
c.3279C>A (p.Ile1093=)
16g.2285473A>CCA394316560ABCA3c.3452T>G (p.Ile1151Ser)
c.3278T>G (p.Ile1093Ser)
16g.2285473A>GCA394316561ABCA3c.3452T>C (p.Ile1151Thr)
c.3278T>C (p.Ile1093Thr)
16g.2285473A>TCA394316562ABCA3c.3452T>A (p.Ile1151Asn)
c.3278T>A (p.Ile1093Asn)
16g.2285474T>ACA394316563ABCA3c.3451A>T (p.Ile1151Phe)
c.3277A>T (p.Ile1093Phe)
 gnomAD v4
16g.2285474T>CCA394316564ABCA3c.3451A>G (p.Ile1151Val)
c.3277A>G (p.Ile1093Val)
16g.2285474T>GCA394316565ABCA3c.3451A>C (p.Ile1151Leu)
c.3277A>C (p.Ile1093Leu)
16g.2285475G>ACA493124096ABCA3c.3450C>T (p.Leu1150=)
c.3276C>T (p.Leu1092=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2285475G>CCA493124108ABCA3c.3450C>G (p.Leu1150=)
c.3276C>G (p.Leu1092=)
16g.2285475G=CA2202149724ABCA3c.3450C= (p.Leu1150=)
c.3276C= (p.Leu1092=)
16g.2285475G>TCA493124102ABCA3c.3450C>A (p.Leu1150=)
c.3276C>A (p.Leu1092=)
16g.2285476A>CCA394316566ABCA3c.3449T>G (p.Leu1150Arg)
c.3275T>G (p.Leu1092Arg)
16g.2285476A>GCA394316567ABCA3c.3449T>C (p.Leu1150Pro)
c.3275T>C (p.Leu1092Pro)
 gnomAD v4
16g.2285476A>TCA394316568ABCA3c.3449T>A (p.Leu1150His)
c.3275T>A (p.Leu1092His)
16g.2285477G>ACA394316569ABCA3c.3448C>T (p.Leu1150Phe)
c.3274C>T (p.Leu1092Phe)
16g.2285477G>CCA394316570ABCA3c.3448C>G (p.Leu1150Val)
c.3274C>G (p.Leu1092Val)
16g.2285477G>TCA394316571ABCA3c.3448C>A (p.Leu1150Ile)
c.3274C>A (p.Leu1092Ile)
16g.2285478G>ACA493124138ABCA3c.3447C>T (p.Asp1149=)
c.3273C>T (p.Asp1091=)
16g.2285478G>CCA394316572ABCA3c.3447C>G (p.Asp1149Glu)
c.3273C>G (p.Asp1091Glu)
16g.2285478G>TCA394316573ABCA3c.3447C>A (p.Asp1149Glu)
c.3273C>A (p.Asp1091Glu)
16g.2285479T>ACA394316574ABCA3c.3446A>T (p.Asp1149Val)
c.3272A>T (p.Asp1091Val)
16g.2285479T>CCA394316575ABCA3c.3446A>G (p.Asp1149Gly)
c.3272A>G (p.Asp1091Gly)
16g.2285479T>GCA394316576ABCA3c.3446A>C (p.Asp1149Ala)
c.3272A>C (p.Asp1091Ala)
16g.2285480C>ACA394316577ABCA3c.3445G>T (p.Asp1149Tyr)
c.3271G>T (p.Asp1091Tyr)
16g.2285480C>GCA394316578ABCA3c.3445G>C (p.Asp1149His)
c.3271G>C (p.Asp1091His)
16g.2285480C>TCA394316579ABCA3c.3445G>A (p.Asp1149Asn)
c.3271G>A (p.Asp1091Asn)
16g.2285481C>ACA394316580ABCA3c.3444G>T (p.Trp1148Cys)
c.3270G>T (p.Trp1090Cys)
16g.2285481C>GCA394316581ABCA3c.3444G>C (p.Trp1148Cys)
c.3270G>C (p.Trp1090Cys)
16g.2285481C>TCA394316582ABCA3c.3444G>A (p.Trp1148Ter)
c.3270G>A (p.Trp1090Ter)
16g.2285482C>ACA394316583ABCA3c.3443G>T (p.Trp1148Leu)
c.3269G>T (p.Trp1090Leu)
16g.2285482C>GCA394316584ABCA3c.3443G>C (p.Trp1148Ser)
c.3269G>C (p.Trp1090Ser)
16g.2285482C>TCA394316585ABCA3c.3443G>A (p.Trp1148Ter)
c.3269G>A (p.Trp1090Ter)
16g.2285483A>CCA394316587ABCA3c.3442T>G (p.Trp1148Gly)
c.3268T>G (p.Trp1090Gly)
16g.2285483A>GCA394316588ABCA3c.3442T>C (p.Trp1148Arg)
c.3268T>C (p.Trp1090Arg)
16g.2285483A>TCA394316586ABCA3c.3442T>A (p.Trp1148Arg)
c.3268T>A (p.Trp1090Arg)
16g.2285484C>ACA493124213ABCA3c.3441G>T (p.Leu1147=)
c.3267G>T (p.Leu1089=)
16g.2285484C=CA2202149725ABCA3c.3441G= (p.Leu1147=)
c.3267G= (p.Leu1089=)
16g.2285484C>GCA493124214ABCA3c.3441G>C (p.Leu1147=)
c.3267G>C (p.Leu1089=)
16g.2285484C>TCA493124218ABCA3c.3441G>A (p.Leu1147=)
c.3267G>A (p.Leu1089=)
 dbSNP gnomAD v2 gnomAD v4
16g.2285485A=CA2202149726ABCA3c.3440T= (p.Leu1147=)
c.3266T= (p.Leu1089=)
16g.2285485A>CCA394316589ABCA3c.3440T>G (p.Leu1147Arg)
c.3266T>G (p.Leu1089Arg)
16g.2285485A>GCA7840513ABCA3c.3440T>C (p.Leu1147Pro)
c.3266T>C (p.Leu1089Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2285485A>TCA394316590ABCA3c.3440T>A (p.Leu1147Gln)
c.3266T>A (p.Leu1089Gln)
16g.2285486G>ACA276822618ABCA3c.3439C>T (p.Leu1147=)
c.3265C>T (p.Leu1089=)
 dbSNP gnomAD v3 gnomAD v4
16g.2285486G>CCA394316592ABCA3c.3439C>G (p.Leu1147Val)
c.3265C>G (p.Leu1089Val)
16g.2285486G=CA2202149727ABCA3c.3439C= (p.Leu1147=)
c.3265C= (p.Leu1089=)
16g.2285486G>TCA394316591ABCA3c.3439C>A (p.Leu1147Met)
c.3265C>A (p.Leu1089Met)
 gnomAD v4
16g.2285487C>ACA493124260ABCA3c.3438G>T (p.Leu1146=)
c.3264G>T (p.Leu1088=)
16g.2285487C>GCA493124255ABCA3c.3438G>C (p.Leu1146=)
c.3264G>C (p.Leu1088=)
16g.2285487C>TCA493124254ABCA3c.3438G>A (p.Leu1146=)
c.3264G>A (p.Leu1088=)
 gnomAD v4
16g.2285488A=CA2202149728ABCA3c.3437T= (p.Leu1146=)
c.3263T= (p.Leu1088=)
16g.2285488A>CCA394316593ABCA3c.3437T>G (p.Leu1146Arg)
c.3263T>G (p.Leu1088Arg)
 gnomAD v4
16g.2285488A>GCA394316594ABCA3c.3437T>C (p.Leu1146Pro)
c.3263T>C (p.Leu1088Pro)
16g.2285488A>TCA7840514ABCA3c.3437T>A (p.Leu1146Gln)
c.3263T>A (p.Leu1088Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2285489G>ACA493124295ABCA3c.3436C>T (p.Leu1146=)
c.3262C>T (p.Leu1088=)
 dbSNP gnomAD v2 gnomAD v4
16g.2285489G>CCA7840515ABCA3c.3436C>G (p.Leu1146Val)
c.3262C>G (p.Leu1088Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2285489G=CA2202149729ABCA3c.3436C= (p.Leu1146=)
c.3262C= (p.Leu1088=)
16g.2285489G>TCA394316595ABCA3c.3436C>A (p.Leu1146Met)
c.3262C>A (p.Leu1088Met)
16g.2285490A>CCA493124337ABCA3c.3435T>G (p.Ala1145=)
c.3261T>G (p.Ala1087=)
16g.2285490A>GCA493124330ABCA3c.3435T>C (p.Ala1145=)
c.3261T>C (p.Ala1087=)
 gnomAD v4
16g.2285490A>TCA493124322ABCA3c.3435T>A (p.Ala1145=)
c.3261T>A (p.Ala1087=)
16g.2285491G>ACA394316598ABCA3c.3434C>T (p.Ala1145Val)
c.3260C>T (p.Ala1087Val)
16g.2285491G>CCA394316597ABCA3c.3434C>G (p.Ala1145Gly)
c.3260C>G (p.Ala1087Gly)
16g.2285491G=CA2202149730ABCA3c.3434C= (p.Ala1145=)
c.3260C= (p.Ala1087=)
16g.2285491G>TCA394316596ABCA3c.3434C>A (p.Ala1145Asp)
c.3260C>A (p.Ala1087Asp)
 dbSNP gnomAD v2
16g.2285492C>ACA394316599ABCA3c.3433G>T (p.Ala1145Ser)
c.3259G>T (p.Ala1087Ser)
16g.2285492C>GCA394316600ABCA3c.3433G>C (p.Ala1145Pro)
c.3259G>C (p.Ala1087Pro)
16g.2285492C>TCA394316601ABCA3c.3433G>A (p.Ala1145Thr)
c.3259G>A (p.Ala1087Thr)
16g.2285493A>CCA493124355ABCA3c.3432T>G (p.Ser1144=)
c.3258T>G (p.Ser1086=)
16g.2285493A>GCA493124359ABCA3c.3432T>C (p.Ser1144=)
c.3258T>C (p.Ser1086=)
 ClinVar
16g.2285493A>TCA493124357ABCA3c.3432T>A (p.Ser1144=)
c.3258T>A (p.Ser1086=)
16g.2285494G>ACA394316602ABCA3c.3431C>T (p.Ser1144Phe)
c.3257C>T (p.Ser1086Phe)
 dbSNP gnomAD v2 gnomAD v4
16g.2285494G>CCA394316603ABCA3c.3431C>G (p.Ser1144Cys)
c.3257C>G (p.Ser1086Cys)
16g.2285494G=CA2202149731ABCA3c.3431C= (p.Ser1144=)
c.3257C= (p.Ser1086=)
16g.2285494G>TCA394316604ABCA3c.3431C>A (p.Ser1144Tyr)
c.3257C>A (p.Ser1086Tyr)
16g.2285495A>CCA394316607ABCA3c.3430T>G (p.Ser1144Ala)
c.3256T>G (p.Ser1086Ala)
16g.2285495A>GCA394316605ABCA3c.3430T>C (p.Ser1144Pro)
c.3256T>C (p.Ser1086Pro)
16g.2285495A>TCA394316606ABCA3c.3430T>A (p.Ser1144Thr)
c.3256T>A (p.Ser1086Thr)
16g.2285496G>ACA493124395ABCA3c.3429C>T (p.Leu1143=)
c.3255C>T (p.Leu1085=)
16g.2285496G>CCA493124397ABCA3c.3429C>G (p.Leu1143=)
c.3255C>G (p.Leu1085=)
 gnomAD v4
16g.2285496G>TCA493124398ABCA3c.3429C>A (p.Leu1143=)
c.3255C>A (p.Leu1085=)
 gnomAD v4
16g.2285497A=CA2202149732ABCA3c.3428T= (p.Leu1143=)
c.3254T= (p.Leu1085=)
16g.2285497A>CCA394316608ABCA3c.3428T>G (p.Leu1143Arg)
c.3254T>G (p.Leu1085Arg)
16g.2285497A>GCA276822624ABCA3c.3428T>C (p.Leu1143Pro)
c.3254T>C (p.Leu1085Pro)
 dbSNP gnomAD v2 gnomAD v4
16g.2285497A>TCA394316609ABCA3c.3428T>A (p.Leu1143His)
c.3254T>A (p.Leu1085His)
16g.2285498G>ACA394316610ABCA3c.3427C>T (p.Leu1143Phe)
c.3253C>T (p.Leu1085Phe)
16g.2285498G>CCA394316611ABCA3c.3427C>G (p.Leu1143Val)
c.3253C>G (p.Leu1085Val)
16g.2285498G>TCA394316612ABCA3c.3427C>A (p.Leu1143Ile)
c.3253C>A (p.Leu1085Ile)
16g.2285499C>ACA394316613ABCA3c.3426G>T (p.Trp1142Cys)
c.3252G>T (p.Trp1084Cys)
16g.2285499C=CA2202149733ABCA3c.3426G= (p.Trp1142=)
c.3252G= (p.Trp1084=)
16g.2285499C>GCA394316614ABCA3c.3426G>C (p.Trp1142Cys)
c.3252G>C (p.Trp1084Cys)
 gnomAD v4
16g.2285499C>TCA119212ABCA3c.3426G>A (p.Trp1142Ter)
c.3252G>A (p.Trp1084Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2285500C>ACA394316615ABCA3c.3425G>T (p.Trp1142Leu)
c.3251G>T (p.Trp1084Leu)
16g.2285500C=CA2202149734ABCA3c.3425G= (p.Trp1142=)
c.3251G= (p.Trp1084=)
16g.2285500C>GCA394316616ABCA3c.3425G>C (p.Trp1142Ser)
c.3251G>C (p.Trp1084Ser)
16g.2285500C>TCA394316617ABCA3c.3425G>A (p.Trp1142Ter)
c.3251G>A (p.Trp1084Ter)
 dbSNP gnomAD v2
16g.2285501A=CA2202149735ABCA3c.3424T= (p.Trp1142=)
c.3250T= (p.Trp1084=)
16g.2285501A>CCA394316618ABCA3c.3424T>G (p.Trp1142Gly)
c.3250T>G (p.Trp1084Gly)
16g.2285501A>GCA394316620ABCA3c.3424T>C (p.Trp1142Arg)
c.3250T>C (p.Trp1084Arg)
16g.2285501A>TCA394316619ABCA3c.3424T>A (p.Trp1142Arg)
c.3250T>A (p.Trp1084Arg)
 dbSNP
16g.2285502G>ACA493124499ABCA3c.3423C>T (p.Phe1141=)
c.3249C>T (p.Phe1083=)
16g.2285502G>CCA394316621ABCA3c.3423C>G (p.Phe1141Leu)
c.3249C>G (p.Phe1083Leu)
16g.2285502G>TCA394316622ABCA3c.3423C>A (p.Phe1141Leu)
c.3249C>A (p.Phe1083Leu)
16g.2285503A>CCA394316623ABCA3c.3422T>G (p.Phe1141Cys)
c.3248T>G (p.Phe1083Cys)
16g.2285503A>GCA394316624ABCA3c.3422T>C (p.Phe1141Ser)
c.3248T>C (p.Phe1083Ser)
16g.2285503A>TCA394316625ABCA3c.3422T>A (p.Phe1141Tyr)
c.3248T>A (p.Phe1083Tyr)
16g.2285504A>CCA394316627ABCA3c.3421T>G (p.Phe1141Val)
c.3247T>G (p.Phe1083Val)
16g.2285504A>GCA394316629ABCA3c.3421T>C (p.Phe1141Leu)
c.3247T>C (p.Phe1083Leu)
16g.2285504A>TCA394316631ABCA3c.3421T>A (p.Phe1141Ile)
c.3247T>A (p.Phe1083Ile)
 gnomAD v4
16g.2285505A>CCA394316634ABCA3c.3420T>G (p.Ser1140Arg)
c.3246T>G (p.Ser1082Arg)
16g.2285505A>GCA493124557ABCA3c.3420T>C (p.Ser1140=)
c.3246T>C (p.Ser1082=)
16g.2285505A>TCA394316635ABCA3c.3420T>A (p.Ser1140Arg)
c.3246T>A (p.Ser1082Arg)

Number of alleles fetched