Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2285377_2285410del | CA2631186121 | ABCA3 | c.3483+32_3483+65del (n.3483+32_3483+65del) c.3309+32_3309+65del (n.3309+32_3309+65del) | gnomAD v4 |
16 | g.2285407G>A | CA620708410 | ABCA3 | c.3483+35C>T (n.3483+35C>T) c.3309+35C>T (n.3309+35C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285407G>C | CA2631186158 | ABCA3 | c.3483+35C>G (n.3483+35C>G) c.3309+35C>G (n.3309+35C>G) | gnomAD v4 |
16 | g.2285407G= | CA2202149685 | ABCA3 | c.3483+35C= (n.3483+35C=) c.3309+35C= (n.3309+35C=) | |
16 | g.2285407G>T | CA2202149686 | ABCA3 | c.3483+35C>A (n.3483+35C>A) c.3309+35C>A (n.3309+35C>A) | dbSNP |
16 | g.2285408C= | CA2202149687 | ABCA3 | c.3483+34G= (n.3483+34G=) c.3309+34G= (n.3309+34G=) | |
16 | g.2285408C>T | CA620708412 | ABCA3 | c.3483+34G>A (n.3483+34G>A) c.3309+34G>A (n.3309+34G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285409A= | CA2202149688 | ABCA3 | c.3483+33T= (n.3483+33T=) c.3309+33T= (n.3309+33T=) | |
16 | g.2285409A>C | CA620708414 | ABCA3 | c.3483+33T>G (n.3483+33T>G) c.3309+33T>G (n.3309+33T>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285409A>G | CA2631186163 | ABCA3 | c.3483+33T>C (n.3483+33T>C) c.3309+33T>C (n.3309+33T>C) | gnomAD v4 |
16 | g.2285410G>A | CA7840501 | ABCA3 | c.3483+32C>T (n.3483+32C>T) c.3309+32C>T (n.3309+32C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285410G= | CA2202149689 | ABCA3 | c.3483+32C= (n.3483+32C=) c.3309+32C= (n.3309+32C=) | |
16 | g.2285410G>T | CA2631186170 | ABCA3 | c.3483+32C>A (n.3483+32C>A) c.3309+32C>A (n.3309+32C>A) | gnomAD v4 |
16 | g.2285413del | CA2631186167 | ABCA3 | c.3483+32del (n.3483+32del) c.3309+32del (n.3309+32del) | gnomAD v4 |
16 | g.2285411G>A | CA2202149691 | ABCA3 | c.3483+31C>T (n.3483+31C>T) c.3309+31C>T (n.3309+31C>T) | dbSNP gnomAD v4 |
16 | g.2285411G>C | CA2202149692 | ABCA3 | c.3483+31C>G (n.3483+31C>G) c.3309+31C>G (n.3309+31C>G) | dbSNP |
16 | g.2285411G= | CA2202149690 | ABCA3 | c.3483+31C= (n.3483+31C=) c.3309+31C= (n.3309+31C=) | |
16 | g.2285411G>T | CA2631186175 | ABCA3 | c.3483+31C>A (n.3483+31C>A) c.3309+31C>A (n.3309+31C>A) | gnomAD v4 |
16 | g.2285412G>A | CA620708415 | ABCA3 | c.3483+30C>T (n.3483+30C>T) c.3309+30C>T (n.3309+30C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285412G>C | CA620708416 | ABCA3 | c.3483+30C>G (n.3483+30C>G) c.3309+30C>G (n.3309+30C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285412G= | CA2202149693 | ABCA3 | c.3483+30C= (n.3483+30C=) c.3309+30C= (n.3309+30C=) | |
16 | g.2285412G>T | CA2842246455 | ABCA3 | c.3483+30C>A (n.3483+30C>A) c.3309+30C>A (n.3309+30C>A) | |
16 | g.2285413G>A | CA7840502 | ABCA3 | c.3483+29C>T (n.3483+29C>T) c.3309+29C>T (n.3309+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285413G>C | CA2575882545 | ABCA3 | c.3483+29C>G (n.3483+29C>G) c.3309+29C>G (n.3309+29C>G) | |
16 | g.2285413G= | CA2202149694 | ABCA3 | c.3483+29C= (n.3483+29C=) c.3309+29C= (n.3309+29C=) | |
16 | g.2285413G>T | CA2839243976 | ABCA3 | c.3483+29C>A (n.3483+29C>A) c.3309+29C>A (n.3309+29C>A) | |
16 | g.2285414A>G | CA2842246456 | ABCA3 | c.3483+28T>C (n.3483+28T>C) c.3309+28T>C (n.3309+28T>C) | |
16 | g.2285415A>G | CA2805586629 | ABCA3 | c.3483+27T>C (n.3483+27T>C) c.3309+27T>C (n.3309+27T>C) | |
16 | g.2285416C>A | CA2844631220 | ABCA3 | c.3483+26G>T (n.3483+26G>T) c.3309+26G>T (n.3309+26G>T) | |
16 | g.2285416C= | CA2202149695 | ABCA3 | c.3483+26G= (n.3483+26G=) c.3309+26G= (n.3309+26G=) | |
16 | g.2285416C>G | CA2844631219 | ABCA3 | c.3483+26G>C (n.3483+26G>C) c.3309+26G>C (n.3309+26G>C) | |
16 | g.2285416C>T | CA7840503 | ABCA3 | c.3483+26G>A (n.3483+26G>A) c.3309+26G>A (n.3309+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285416dup | CA2838452950 | ABCA3 | c.3483+26dup (n.3483+26dup) c.3309+26dup (n.3309+26dup) | |
16 | g.2285417G>A | CA7840504 | ABCA3 | c.3483+25C>T (n.3483+25C>T) c.3309+25C>T (n.3309+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285417G= | CA2202149696 | ABCA3 | c.3483+25C= (n.3483+25C=) c.3309+25C= (n.3309+25C=) | |
16 | g.2285417G>T | CA2631186182 | ABCA3 | c.3483+25C>A (n.3483+25C>A) c.3309+25C>A (n.3309+25C>A) | gnomAD v4 |
16 | g.2285418G>T | CA2631186185 | ABCA3 | c.3483+24C>A (n.3483+24C>A) c.3309+24C>A (n.3309+24C>A) | gnomAD v4 |
16 | g.2285420T>C | CA2842246457 | ABCA3 | c.3483+22A>G (n.3483+22A>G) c.3309+22A>G (n.3309+22A>G) | |
16 | g.2285421C>A | CA2631186186 | ABCA3 | c.3483+21G>T (n.3483+21G>T) c.3309+21G>T (n.3309+21G>T) | gnomAD v4 |
16 | g.2285422C>A | CA2631186187 | ABCA3 | c.3483+20G>T (n.3483+20G>T) c.3309+20G>T (n.3309+20G>T) | gnomAD v4 |
16 | g.2285422C= | CA2202149697 | ABCA3 | c.3483+20G= (n.3483+20G=) c.3309+20G= (n.3309+20G=) | |
16 | g.2285422C>T | CA276822599 | ABCA3 | c.3483+20G>A (n.3483+20G>A) c.3309+20G>A (n.3309+20G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285423A>G | CA2805586630 | ABCA3 | c.3483+19T>C (n.3483+19T>C) c.3309+19T>C (n.3309+19T>C) | |
16 | g.2285423A>T | CA2631186190 | ABCA3 | c.3483+19T>A (n.3483+19T>A) c.3309+19T>A (n.3309+19T>A) | gnomAD v4 |
16 | g.2285424G>A | CA620708417 | ABCA3 | c.3483+18C>T (n.3483+18C>T) c.3309+18C>T (n.3309+18C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285424G= | CA2202149698 | ABCA3 | c.3483+18C= (n.3483+18C=) c.3309+18C= (n.3309+18C=) | |
16 | g.2285424G>T | CA2631186195 | ABCA3 | c.3483+18C>A (n.3483+18C>A) c.3309+18C>A (n.3309+18C>A) | gnomAD v4 |
16 | g.2285425C>A | CA2631186198 | ABCA3 | c.3483+17G>T (n.3483+17G>T) c.3309+17G>T (n.3309+17G>T) | gnomAD v4 |
16 | g.2285425C>T | CA2842246458 | ABCA3 | c.3483+17G>A (n.3483+17G>A) c.3309+17G>A (n.3309+17G>A) | |
16 | g.2285427C>A | CA2631186203 | ABCA3 | c.3483+15G>T (n.3483+15G>T) c.3309+15G>T (n.3309+15G>T) | gnomAD v4 |
16 | g.2285427C= | CA2202149699 | ABCA3 | c.3483+15G= (n.3483+15G=) c.3309+15G= (n.3309+15G=) | |
16 | g.2285427C>T | CA7840505 | ABCA3 | c.3483+15G>A (n.3483+15G>A) c.3309+15G>A (n.3309+15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285429del | CA2631186202 | ABCA3 | c.3483+15del (n.3483+15del) c.3309+15del (n.3309+15del) | gnomAD v4 |
16 | g.2285428C>A | CA2631186206 | ABCA3 | c.3483+14G>T (n.3483+14G>T) c.3309+14G>T (n.3309+14G>T) | gnomAD v4 |
16 | g.2285428C>T | CA2631186207 | ABCA3 | c.3483+14G>A (n.3483+14G>A) c.3309+14G>A (n.3309+14G>A) | gnomAD v4 |
16 | g.2285429C>A | CA2842246459 | ABCA3 | c.3483+13G>T (n.3483+13G>T) c.3309+13G>T (n.3309+13G>T) | |
16 | g.2285429C= | CA2202149700 | ABCA3 | c.3483+13G= (n.3483+13G=) c.3309+13G= (n.3309+13G=) | |
16 | g.2285429C>G | CA276822603 | ABCA3 | c.3483+13G>C (n.3483+13G>C) c.3309+13G>C (n.3309+13G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2285429C>T | CA7840506 | ABCA3 | c.3483+13G>A (n.3483+13G>A) c.3309+13G>A (n.3309+13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2285431C>A | CA2631186217 | ABCA3 | c.3483+11G>T (n.3483+11G>T) c.3309+11G>T (n.3309+11G>T) | gnomAD v4 |
16 | g.2285431C>T | CA2575882546 | ABCA3 | c.3483+11G>A (n.3483+11G>A) c.3309+11G>A (n.3309+11G>A) | gnomAD v4 |
16 | g.2285431_2285451del | CA2631186216 | ABCA3 | c.3474_3483+11del c.3300_3309+11del | gnomAD v4 |
16 | g.2285432C>A | CA2631186223 | ABCA3 | c.3483+10G>T (n.3483+10G>T) c.3309+10G>T (n.3309+10G>T) | gnomAD v4 |
16 | g.2285432C= | CA2202149701 | ABCA3 | c.3483+10G= (n.3483+10G=) c.3309+10G= (n.3309+10G=) | |
16 | g.2285432C>T | CA10637342 | ABCA3 | c.3483+10G>A (n.3483+10G>A) c.3309+10G>A (n.3309+10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285433G>A | CA7840507 | ABCA3 | c.3483+9C>T (n.3483+9C>T) c.3309+9C>T (n.3309+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285433G= | CA2202149702 | ABCA3 | c.3483+9C= (n.3483+9C=) c.3309+9C= (n.3309+9C=) | |
16 | g.2285434G>A | CA620708418 | ABCA3 | c.3483+8C>T (n.3483+8C>T) c.3309+8C>T (n.3309+8C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285434G>C | CA620708419 | ABCA3 | c.3483+8C>G (n.3483+8C>G) c.3309+8C>G (n.3309+8C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285434G= | CA2202149703 | ABCA3 | c.3483+8C= (n.3483+8C=) c.3309+8C= (n.3309+8C=) | |
16 | g.2285434G>T | CA2842246460 | ABCA3 | c.3483+8C>A (n.3483+8C>A) c.3309+8C>A (n.3309+8C>A) | |
16 | g.2285435C= | CA2202149704 | ABCA3 | c.3483+7G= (n.3483+7G=) c.3309+7G= (n.3309+7G=) | |
16 | g.2285435C>G | CA2631186232 | ABCA3 | c.3483+7G>C (n.3483+7G>C) c.3309+7G>C (n.3309+7G>C) | gnomAD v4 |
16 | g.2285435C>T | CA7840508 | ABCA3 | c.3483+7G>A (n.3483+7G>A) c.3309+7G>A (n.3309+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285435_2285436insT | CA2631186234 | ABCA3 | c.3483+6_3483+7insA (n.3483+6_3483+7insA) c.3309+6_3309+7insA (n.3309+6_3309+7insA) | gnomAD v4 |
16 | g.2285436G>A | CA620708420 | ABCA3 | c.3483+6C>T (n.3483+6C>T) c.3309+6C>T (n.3309+6C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285436G= | CA2202149705 | ABCA3 | c.3483+6C= (n.3483+6C=) c.3309+6C= (n.3309+6C=) | |
16 | g.2285436G>T | CA2631186235 | ABCA3 | c.3483+6C>A (n.3483+6C>A) c.3309+6C>A (n.3309+6C>A) | gnomAD v4 |
16 | g.2285437C= | CA2202149706 | ABCA3 | c.3483+5G= (n.3483+5G=) c.3309+5G= (n.3309+5G=) | |
16 | g.2285437C>G | CA2202149707 | ABCA3 | c.3483+5G>C (n.3483+5G>C) c.3309+5G>C (n.3309+5G>C) | dbSNP |
16 | g.2285439C>A | CA2839048247 | ABCA3 | c.3483+3G>T (n.3483+3G>T) c.3309+3G>T (n.3309+3G>T) | |
16 | g.2285440A>C | CA394316469 | ABCA3 | c.3483+2T>G (n.3483+2T>G) c.3309+2T>G (n.3309+2T>G) | gnomAD v4 |
16 | g.2285440A>G | CA394316470 | ABCA3 | c.3483+2T>C (n.3483+2T>C) c.3309+2T>C (n.3309+2T>C) | |
16 | g.2285440A>T | CA394316471 | ABCA3 | c.3483+2T>A (n.3483+2T>A) c.3309+2T>A (n.3309+2T>A) | |
16 | g.2285441C>A | CA394316474 | ABCA3 | c.3483+1G>T (n.3483+1G>T) c.3309+1G>T (n.3309+1G>T) | |
16 | g.2285441C>G | CA394316477 | ABCA3 | c.3483+1G>C (n.3483+1G>C) c.3309+1G>C (n.3309+1G>C) | |
16 | g.2285441C>T | CA394316475 | ABCA3 | c.3483+1G>A (n.3483+1G>A) c.3309+1G>A (n.3309+1G>A) | ClinVar |
16 | g.2285441_2285444delinsCCAG | CA2202149708 | ABCA3 | c.3481_3483+1delinsCTGG c.3307_3309+1delinsCTGG | |
16 | g.2285442C>A | CA493123603 | ABCA3 | c.3483G>T (p.Leu1161=) c.3309G>T (p.Leu1103=) | gnomAD v4 |
16 | g.2285442C>G | CA493123609 | ABCA3 | c.3483G>C (p.Leu1161=) c.3309G>C (p.Leu1103=) | |
16 | g.2285442C>T | CA493123614 | ABCA3 | c.3483G>A (p.Leu1161=) c.3309G>A (p.Leu1103=) | gnomAD v4 |
16 | g.2285451_2285453del | CA7840509 | ABCA3 | c.3481_3483del (p.Leu1161del) c.3307_3309del (p.Leu1103del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2285443A>C | CA394316479 | ABCA3 | c.3482T>G (p.Leu1161Arg) c.3308T>G (p.Leu1103Arg) | |
16 | g.2285443A>G | CA394316480 | ABCA3 | c.3482T>C (p.Leu1161Pro) c.3308T>C (p.Leu1103Pro) | |
16 | g.2285443A>T | CA394316482 | ABCA3 | c.3482T>A (p.Leu1161Gln) c.3308T>A (p.Leu1103Gln) | |
16 | g.2285444G>A | CA493123627 | ABCA3 | c.3481C>T (p.Leu1161=) c.3307C>T (p.Leu1103=) | |
16 | g.2285444G>C | CA7840510 | ABCA3 | c.3481C>G (p.Leu1161Val) c.3307C>G (p.Leu1103Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2285444G= | CA2202149709 | ABCA3 | c.3481C= (p.Leu1161=) c.3307C= (p.Leu1103=) | |
16 | g.2285444G>T | CA394316484 | ABCA3 | c.3481C>A (p.Leu1161Met) c.3307C>A (p.Leu1103Met) | gnomAD v4 |
16 | g.2285445C>A | CA493123637 | ABCA3 | c.3480G>T (p.Leu1160=) c.3306G>T (p.Leu1102=) | |
16 | g.2285445C>G | CA493123647 | ABCA3 | c.3480G>C (p.Leu1160=) c.3306G>C (p.Leu1102=) | |
16 | g.2285445C>T | CA493123649 | ABCA3 | c.3480G>A (p.Leu1160=) c.3306G>A (p.Leu1102=) | |
16 | g.2285446A>C | CA394316486 | ABCA3 | c.3479T>G (p.Leu1160Arg) c.3305T>G (p.Leu1102Arg) | |
16 | g.2285446A>G | CA394316487 | ABCA3 | c.3479T>C (p.Leu1160Pro) c.3305T>C (p.Leu1102Pro) | |
16 | g.2285446A>T | CA394316489 | ABCA3 | c.3479T>A (p.Leu1160Gln) c.3305T>A (p.Leu1102Gln) | |
16 | g.2285447G>A | CA493123663 | ABCA3 | c.3478C>T (p.Leu1160=) c.3304C>T (p.Leu1102=) | gnomAD v4 |
16 | g.2285447G>C | CA394316491 | ABCA3 | c.3478C>G (p.Leu1160Val) c.3304C>G (p.Leu1102Val) | gnomAD v4 |
16 | g.2285447G= | CA2202149710 | ABCA3 | c.3478C= (p.Leu1160=) c.3304C= (p.Leu1102=) | |
16 | g.2285447G>T | CA394316493 | ABCA3 | c.3478C>A (p.Leu1160Met) c.3304C>A (p.Leu1102Met) | |
16 | g.2285448C>A | CA493123690 | ABCA3 | c.3477G>T (p.Leu1159=) c.3303G>T (p.Leu1101=) | |
16 | g.2285448C>G | CA493123693 | ABCA3 | c.3477G>C (p.Leu1159=) c.3303G>C (p.Leu1101=) | |
16 | g.2285448C>T | CA493123697 | ABCA3 | c.3477G>A (p.Leu1159=) c.3303G>A (p.Leu1101=) | |
16 | g.2285448_2285449insGTC | CA2202149711 | ABCA3 | c.3477_3478insACG (p.Leu1159_Leu1160insThr) c.3303_3304insACG (p.Leu1101_Leu1102insThr) | dbSNP |
16 | g.2285449A>C | CA394316498 | ABCA3 | c.3476T>G (p.Leu1159Arg) c.3302T>G (p.Leu1101Arg) | |
16 | g.2285449A>G | CA394316496 | ABCA3 | c.3476T>C (p.Leu1159Pro) c.3302T>C (p.Leu1101Pro) | |
16 | g.2285449A>T | CA394316494 | ABCA3 | c.3476T>A (p.Leu1159Gln) c.3302T>A (p.Leu1101Gln) | |
16 | g.2285450G>A | CA493123714 | ABCA3 | c.3475C>T (p.Leu1159=) c.3301C>T (p.Leu1101=) | gnomAD v4 |
16 | g.2285450G>C | CA394316499 | ABCA3 | c.3475C>G (p.Leu1159Val) c.3301C>G (p.Leu1101Val) | |
16 | g.2285450G>T | CA394316501 | ABCA3 | c.3475C>A (p.Leu1159Met) c.3301C>A (p.Leu1101Met) | |
16 | g.2285451C>A | CA493123722 | ABCA3 | c.3474G>T (p.Leu1158=) c.3300G>T (p.Leu1100=) | |
16 | g.2285451C= | CA2202149712 | ABCA3 | c.3474G= (p.Leu1158=) c.3300G= (p.Leu1100=) | |
16 | g.2285451C>G | CA493123731 | ABCA3 | c.3474G>C (p.Leu1158=) c.3300G>C (p.Leu1100=) | |
16 | g.2285451C>T | CA493123737 | ABCA3 | c.3474G>A (p.Leu1158=) c.3300G>A (p.Leu1100=) | ClinVar dbSNP |
16 | g.2285451_2285452insGGAT | CA2202149713 | ABCA3 | c.3473_3474insATCC (p.Leu1159SerfsTer8) c.3299_3300insATCC (p.Leu1101SerfsTer8) | dbSNP |
16 | g.2285452A>C | CA394316502 | ABCA3 | c.3473T>G (p.Leu1158Arg) c.3299T>G (p.Leu1100Arg) | |
16 | g.2285452A>G | CA394316504 | ABCA3 | c.3473T>C (p.Leu1158Pro) c.3299T>C (p.Leu1100Pro) | |
16 | g.2285452A>T | CA394316506 | ABCA3 | c.3473T>A (p.Leu1158Gln) c.3299T>A (p.Leu1100Gln) | |
16 | g.2285453G>A | CA493123766 | ABCA3 | c.3472C>T (p.Leu1158=) c.3298C>T (p.Leu1100=) | |
16 | g.2285453G>C | CA394316507 | ABCA3 | c.3472C>G (p.Leu1158Val) c.3298C>G (p.Leu1100Val) | |
16 | g.2285453G>T | CA394316509 | ABCA3 | c.3472C>A (p.Leu1158Met) c.3298C>A (p.Leu1100Met) | gnomAD v4 |
16 | g.2285454A>C | CA394316511 | ABCA3 | c.3471T>G (p.Ser1157Arg) c.3297T>G (p.Ser1099Arg) | |
16 | g.2285454A>G | CA493123791 | ABCA3 | c.3471T>C (p.Ser1157=) c.3297T>C (p.Ser1099=) | |
16 | g.2285454A>T | CA394316513 | ABCA3 | c.3471T>A (p.Ser1157Arg) c.3297T>A (p.Ser1099Arg) | |
16 | g.2285455C>A | CA7840511 | ABCA3 | c.3470G>T (p.Ser1157Ile) c.3296G>T (p.Ser1099Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285455C= | CA2202149714 | ABCA3 | c.3470G= (p.Ser1157=) c.3296G= (p.Ser1099=) | |
16 | g.2285455C>G | CA394316515 | ABCA3 | c.3470G>C (p.Ser1157Thr) c.3296G>C (p.Ser1099Thr) | |
16 | g.2285455C>T | CA394316516 | ABCA3 | c.3470G>A (p.Ser1157Asn) c.3296G>A (p.Ser1099Asn) | |
16 | g.2285456T>A | CA394316520 | ABCA3 | c.3469A>T (p.Ser1157Cys) c.3295A>T (p.Ser1099Cys) | |
16 | g.2285456T>C | CA394316519 | ABCA3 | c.3469A>G (p.Ser1157Gly) c.3295A>G (p.Ser1099Gly) | gnomAD v4 |
16 | g.2285456T>G | CA394316518 | ABCA3 | c.3469A>C (p.Ser1157Arg) c.3295A>C (p.Ser1099Arg) | |
16 | g.2285457G>A | CA493123871 | ABCA3 | c.3468C>T (p.Pro1156=) c.3294C>T (p.Pro1098=) | dbSNP |
16 | g.2285457G>C | CA493123868 | ABCA3 | c.3468C>G (p.Pro1156=) c.3294C>G (p.Pro1098=) | |
16 | g.2285457G= | CA2202149715 | ABCA3 | c.3468C= (p.Pro1156=) c.3294C= (p.Pro1098=) | |
16 | g.2285457G>T | CA493123862 | ABCA3 | c.3468C>A (p.Pro1156=) c.3294C>A (p.Pro1098=) | |
16 | g.2285460dup | CA2839243996 | ABCA3 | c.3468dup (p.Ser1157GlnfsTer9) c.3294dup (p.Ser1099GlnfsTer9) | |
16 | g.2285458G>A | CA394316521 | ABCA3 | c.3467C>T (p.Pro1156Leu) c.3293C>T (p.Pro1098Leu) | gnomAD v4 |
16 | g.2285458G>C | CA394316522 | ABCA3 | c.3467C>G (p.Pro1156Arg) c.3293C>G (p.Pro1098Arg) | |
16 | g.2285458G>T | CA394316523 | ABCA3 | c.3467C>A (p.Pro1156His) c.3293C>A (p.Pro1098His) | |
16 | g.2285459G>A | CA7840512 | ABCA3 | c.3466C>T (p.Pro1156Ser) c.3292C>T (p.Pro1098Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285459G>C | CA394316526 | ABCA3 | c.3466C>G (p.Pro1156Ala) c.3292C>G (p.Pro1098Ala) | dbSNP |
16 | g.2285459G= | CA2202149716 | ABCA3 | c.3466C= (p.Pro1156=) c.3292C= (p.Pro1098=) | |
16 | g.2285459G>T | CA394316528 | ABCA3 | c.3466C>A (p.Pro1156Thr) c.3292C>A (p.Pro1098Thr) | |
16 | g.2285460G>A | CA493123891 | ABCA3 | c.3465C>T (p.Ile1155=) c.3291C>T (p.Ile1097=) | gnomAD v4 |
16 | g.2285460G>C | CA394316529 | ABCA3 | c.3465C>G (p.Ile1155Met) c.3291C>G (p.Ile1097Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285460G= | CA2202149717 | ABCA3 | c.3465C= (p.Ile1155=) c.3291C= (p.Ile1097=) | |
16 | g.2285460G>T | CA493123893 | ABCA3 | c.3465C>A (p.Ile1155=) c.3291C>A (p.Ile1097=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285461A>C | CA394316531 | ABCA3 | c.3464T>G (p.Ile1155Ser) c.3290T>G (p.Ile1097Ser) | |
16 | g.2285461A>G | CA394316533 | ABCA3 | c.3464T>C (p.Ile1155Thr) c.3290T>C (p.Ile1097Thr) | |
16 | g.2285461A>T | CA394316535 | ABCA3 | c.3464T>A (p.Ile1155Asn) c.3290T>A (p.Ile1097Asn) | |
16 | g.2285462T>A | CA394316536 | ABCA3 | c.3463A>T (p.Ile1155Phe) c.3289A>T (p.Ile1097Phe) | |
16 | g.2285462T>C | CA394316537 | ABCA3 | c.3463A>G (p.Ile1155Val) c.3289A>G (p.Ile1097Val) | |
16 | g.2285462T>G | CA394316538 | ABCA3 | c.3463A>C (p.Ile1155Leu) c.3289A>C (p.Ile1097Leu) | |
16 | g.2285463G>A | CA493123945 | ABCA3 | c.3462C>T (p.Leu1154=) c.3288C>T (p.Leu1096=) | dbSNP gnomAD v4 |
16 | g.2285463G>C | CA493123947 | ABCA3 | c.3462C>G (p.Leu1154=) c.3288C>G (p.Leu1096=) | |
16 | g.2285463G= | CA2202149718 | ABCA3 | c.3462C= (p.Leu1154=) c.3288C= (p.Leu1096=) | |
16 | g.2285463G>T | CA493123950 | ABCA3 | c.3462C>A (p.Leu1154=) c.3288C>A (p.Leu1096=) | |
16 | g.2285463dup | CA2842246461 | ABCA3 | c.3462dup (p.Ile1155HisfsTer11) c.3288dup (p.Ile1097HisfsTer11) | |
16 | g.2285464A>C | CA394316541 | ABCA3 | c.3461T>G (p.Leu1154Arg) c.3287T>G (p.Leu1096Arg) | |
16 | g.2285464A>G | CA394316540 | ABCA3 | c.3461T>C (p.Leu1154Pro) c.3287T>C (p.Leu1096Pro) | |
16 | g.2285464A>T | CA394316539 | ABCA3 | c.3461T>A (p.Leu1154His) c.3287T>A (p.Leu1096His) | |
16 | g.2285465G>A | CA394316542 | ABCA3 | c.3460C>T (p.Leu1154Phe) c.3286C>T (p.Leu1096Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285465G>C | CA394316543 | ABCA3 | c.3460C>G (p.Leu1154Val) c.3286C>G (p.Leu1096Val) | |
16 | g.2285465G= | CA2202149719 | ABCA3 | c.3460C= (p.Leu1154=) c.3286C= (p.Leu1096=) | |
16 | g.2285465G>T | CA394316544 | ABCA3 | c.3460C>A (p.Leu1154Ile) c.3286C>A (p.Leu1096Ile) | |
16 | g.2285466G>A | CA493123980 | ABCA3 | c.3459C>T (p.Phe1153=) c.3285C>T (p.Phe1095=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285466G>C | CA394316545 | ABCA3 | c.3459C>G (p.Phe1153Leu) c.3285C>G (p.Phe1095Leu) | |
16 | g.2285466G= | CA2202149720 | ABCA3 | c.3459C= (p.Phe1153=) c.3285C= (p.Phe1095=) | |
16 | g.2285466G>T | CA394316546 | ABCA3 | c.3459C>A (p.Phe1153Leu) c.3285C>A (p.Phe1095Leu) | |
16 | g.2285467A>C | CA394316547 | ABCA3 | c.3458T>G (p.Phe1153Cys) c.3284T>G (p.Phe1095Cys) | gnomAD v4 |
16 | g.2285467A>G | CA394316548 | ABCA3 | c.3458T>C (p.Phe1153Ser) c.3284T>C (p.Phe1095Ser) | gnomAD v4 |
16 | g.2285467A>T | CA394316549 | ABCA3 | c.3458T>A (p.Phe1153Tyr) c.3284T>A (p.Phe1095Tyr) | |
16 | g.2285468A= | CA2202149721 | ABCA3 | c.3457T= (p.Phe1153=) c.3283T= (p.Phe1095=) | |
16 | g.2285468A>C | CA394316550 | ABCA3 | c.3457T>G (p.Phe1153Val) c.3283T>G (p.Phe1095Val) | |
16 | g.2285468A>G | CA394316551 | ABCA3 | c.3457T>C (p.Phe1153Leu) c.3283T>C (p.Phe1095Leu) | |
16 | g.2285468A>T | CA394316552 | ABCA3 | c.3457T>A (p.Phe1153Ile) c.3283T>A (p.Phe1095Ile) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2285469G>A | CA493124021 | ABCA3 | c.3456C>T (p.Ser1152=) c.3282C>T (p.Ser1094=) | |
16 | g.2285469G>C | CA493124025 | ABCA3 | c.3456C>G (p.Ser1152=) c.3282C>G (p.Ser1094=) | |
16 | g.2285469G>T | CA493124042 | ABCA3 | c.3456C>A (p.Ser1152=) c.3282C>A (p.Ser1094=) | |
16 | g.2285470G>A | CA394316553 | ABCA3 | c.3455C>T (p.Ser1152Phe) c.3281C>T (p.Ser1094Phe) | |
16 | g.2285470G>C | CA394316554 | ABCA3 | c.3455C>G (p.Ser1152Cys) c.3281C>G (p.Ser1094Cys) | dbSNP COSMIC |
16 | g.2285470G= | CA2202149722 | ABCA3 | c.3455C= (p.Ser1152=) c.3281C= (p.Ser1094=) | |
16 | g.2285470G>T | CA394316555 | ABCA3 | c.3455C>A (p.Ser1152Tyr) c.3281C>A (p.Ser1094Tyr) | gnomAD v4 |
16 | g.2285471A>C | CA394316557 | ABCA3 | c.3454T>G (p.Ser1152Ala) c.3280T>G (p.Ser1094Ala) | |
16 | g.2285471A>G | CA394316558 | ABCA3 | c.3454T>C (p.Ser1152Pro) c.3280T>C (p.Ser1094Pro) | |
16 | g.2285471A>T | CA394316556 | ABCA3 | c.3454T>A (p.Ser1152Thr) c.3280T>A (p.Ser1094Thr) | |
16 | g.2285472G>A | CA493124057 | ABCA3 | c.3453C>T (p.Ile1151=) c.3279C>T (p.Ile1093=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2285472G>C | CA394316559 | ABCA3 | c.3453C>G (p.Ile1151Met) c.3279C>G (p.Ile1093Met) | dbSNP gnomAD v4 |
16 | g.2285472G= | CA2202149723 | ABCA3 | c.3453C= (p.Ile1151=) c.3279C= (p.Ile1093=) | |
16 | g.2285472G>T | CA493124059 | ABCA3 | c.3453C>A (p.Ile1151=) c.3279C>A (p.Ile1093=) | |
16 | g.2285473A>C | CA394316560 | ABCA3 | c.3452T>G (p.Ile1151Ser) c.3278T>G (p.Ile1093Ser) | |
16 | g.2285473A>G | CA394316561 | ABCA3 | c.3452T>C (p.Ile1151Thr) c.3278T>C (p.Ile1093Thr) | |
16 | g.2285473A>T | CA394316562 | ABCA3 | c.3452T>A (p.Ile1151Asn) c.3278T>A (p.Ile1093Asn) | |
16 | g.2285474T>A | CA394316563 | ABCA3 | c.3451A>T (p.Ile1151Phe) c.3277A>T (p.Ile1093Phe) | gnomAD v4 |
16 | g.2285474T>C | CA394316564 | ABCA3 | c.3451A>G (p.Ile1151Val) c.3277A>G (p.Ile1093Val) | |
16 | g.2285474T>G | CA394316565 | ABCA3 | c.3451A>C (p.Ile1151Leu) c.3277A>C (p.Ile1093Leu) | |
16 | g.2285475G>A | CA493124096 | ABCA3 | c.3450C>T (p.Leu1150=) c.3276C>T (p.Leu1092=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2285475G>C | CA493124108 | ABCA3 | c.3450C>G (p.Leu1150=) c.3276C>G (p.Leu1092=) | |
16 | g.2285475G= | CA2202149724 | ABCA3 | c.3450C= (p.Leu1150=) c.3276C= (p.Leu1092=) | |
16 | g.2285475G>T | CA493124102 | ABCA3 | c.3450C>A (p.Leu1150=) c.3276C>A (p.Leu1092=) | |
16 | g.2285476A>C | CA394316566 | ABCA3 | c.3449T>G (p.Leu1150Arg) c.3275T>G (p.Leu1092Arg) | |
16 | g.2285476A>G | CA394316567 | ABCA3 | c.3449T>C (p.Leu1150Pro) c.3275T>C (p.Leu1092Pro) | gnomAD v4 |
16 | g.2285476A>T | CA394316568 | ABCA3 | c.3449T>A (p.Leu1150His) c.3275T>A (p.Leu1092His) | |
16 | g.2285477G>A | CA394316569 | ABCA3 | c.3448C>T (p.Leu1150Phe) c.3274C>T (p.Leu1092Phe) | |
16 | g.2285477G>C | CA394316570 | ABCA3 | c.3448C>G (p.Leu1150Val) c.3274C>G (p.Leu1092Val) | |
16 | g.2285477G>T | CA394316571 | ABCA3 | c.3448C>A (p.Leu1150Ile) c.3274C>A (p.Leu1092Ile) | |
16 | g.2285478G>A | CA493124138 | ABCA3 | c.3447C>T (p.Asp1149=) c.3273C>T (p.Asp1091=) | |
16 | g.2285478G>C | CA394316572 | ABCA3 | c.3447C>G (p.Asp1149Glu) c.3273C>G (p.Asp1091Glu) | |
16 | g.2285478G>T | CA394316573 | ABCA3 | c.3447C>A (p.Asp1149Glu) c.3273C>A (p.Asp1091Glu) | |
16 | g.2285479T>A | CA394316574 | ABCA3 | c.3446A>T (p.Asp1149Val) c.3272A>T (p.Asp1091Val) | |
16 | g.2285479T>C | CA394316575 | ABCA3 | c.3446A>G (p.Asp1149Gly) c.3272A>G (p.Asp1091Gly) | |
16 | g.2285479T>G | CA394316576 | ABCA3 | c.3446A>C (p.Asp1149Ala) c.3272A>C (p.Asp1091Ala) | |
16 | g.2285480C>A | CA394316577 | ABCA3 | c.3445G>T (p.Asp1149Tyr) c.3271G>T (p.Asp1091Tyr) | |
16 | g.2285480C>G | CA394316578 | ABCA3 | c.3445G>C (p.Asp1149His) c.3271G>C (p.Asp1091His) | |
16 | g.2285480C>T | CA394316579 | ABCA3 | c.3445G>A (p.Asp1149Asn) c.3271G>A (p.Asp1091Asn) | |
16 | g.2285481C>A | CA394316580 | ABCA3 | c.3444G>T (p.Trp1148Cys) c.3270G>T (p.Trp1090Cys) | |
16 | g.2285481C>G | CA394316581 | ABCA3 | c.3444G>C (p.Trp1148Cys) c.3270G>C (p.Trp1090Cys) | |
16 | g.2285481C>T | CA394316582 | ABCA3 | c.3444G>A (p.Trp1148Ter) c.3270G>A (p.Trp1090Ter) | |
16 | g.2285482C>A | CA394316583 | ABCA3 | c.3443G>T (p.Trp1148Leu) c.3269G>T (p.Trp1090Leu) | |
16 | g.2285482C>G | CA394316584 | ABCA3 | c.3443G>C (p.Trp1148Ser) c.3269G>C (p.Trp1090Ser) | |
16 | g.2285482C>T | CA394316585 | ABCA3 | c.3443G>A (p.Trp1148Ter) c.3269G>A (p.Trp1090Ter) | |
16 | g.2285483A>C | CA394316587 | ABCA3 | c.3442T>G (p.Trp1148Gly) c.3268T>G (p.Trp1090Gly) | |
16 | g.2285483A>G | CA394316588 | ABCA3 | c.3442T>C (p.Trp1148Arg) c.3268T>C (p.Trp1090Arg) | |
16 | g.2285483A>T | CA394316586 | ABCA3 | c.3442T>A (p.Trp1148Arg) c.3268T>A (p.Trp1090Arg) | |
16 | g.2285484C>A | CA493124213 | ABCA3 | c.3441G>T (p.Leu1147=) c.3267G>T (p.Leu1089=) | |
16 | g.2285484C= | CA2202149725 | ABCA3 | c.3441G= (p.Leu1147=) c.3267G= (p.Leu1089=) | |
16 | g.2285484C>G | CA493124214 | ABCA3 | c.3441G>C (p.Leu1147=) c.3267G>C (p.Leu1089=) | |
16 | g.2285484C>T | CA493124218 | ABCA3 | c.3441G>A (p.Leu1147=) c.3267G>A (p.Leu1089=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285485A= | CA2202149726 | ABCA3 | c.3440T= (p.Leu1147=) c.3266T= (p.Leu1089=) | |
16 | g.2285485A>C | CA394316589 | ABCA3 | c.3440T>G (p.Leu1147Arg) c.3266T>G (p.Leu1089Arg) | |
16 | g.2285485A>G | CA7840513 | ABCA3 | c.3440T>C (p.Leu1147Pro) c.3266T>C (p.Leu1089Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2285485A>T | CA394316590 | ABCA3 | c.3440T>A (p.Leu1147Gln) c.3266T>A (p.Leu1089Gln) | |
16 | g.2285486G>A | CA276822618 | ABCA3 | c.3439C>T (p.Leu1147=) c.3265C>T (p.Leu1089=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2285486G>C | CA394316592 | ABCA3 | c.3439C>G (p.Leu1147Val) c.3265C>G (p.Leu1089Val) | |
16 | g.2285486G= | CA2202149727 | ABCA3 | c.3439C= (p.Leu1147=) c.3265C= (p.Leu1089=) | |
16 | g.2285486G>T | CA394316591 | ABCA3 | c.3439C>A (p.Leu1147Met) c.3265C>A (p.Leu1089Met) | gnomAD v4 |
16 | g.2285487C>A | CA493124260 | ABCA3 | c.3438G>T (p.Leu1146=) c.3264G>T (p.Leu1088=) | |
16 | g.2285487C>G | CA493124255 | ABCA3 | c.3438G>C (p.Leu1146=) c.3264G>C (p.Leu1088=) | |
16 | g.2285487C>T | CA493124254 | ABCA3 | c.3438G>A (p.Leu1146=) c.3264G>A (p.Leu1088=) | gnomAD v4 |
16 | g.2285488A= | CA2202149728 | ABCA3 | c.3437T= (p.Leu1146=) c.3263T= (p.Leu1088=) | |
16 | g.2285488A>C | CA394316593 | ABCA3 | c.3437T>G (p.Leu1146Arg) c.3263T>G (p.Leu1088Arg) | gnomAD v4 |
16 | g.2285488A>G | CA394316594 | ABCA3 | c.3437T>C (p.Leu1146Pro) c.3263T>C (p.Leu1088Pro) | |
16 | g.2285488A>T | CA7840514 | ABCA3 | c.3437T>A (p.Leu1146Gln) c.3263T>A (p.Leu1088Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2285489G>A | CA493124295 | ABCA3 | c.3436C>T (p.Leu1146=) c.3262C>T (p.Leu1088=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285489G>C | CA7840515 | ABCA3 | c.3436C>G (p.Leu1146Val) c.3262C>G (p.Leu1088Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2285489G= | CA2202149729 | ABCA3 | c.3436C= (p.Leu1146=) c.3262C= (p.Leu1088=) | |
16 | g.2285489G>T | CA394316595 | ABCA3 | c.3436C>A (p.Leu1146Met) c.3262C>A (p.Leu1088Met) | |
16 | g.2285490A>C | CA493124337 | ABCA3 | c.3435T>G (p.Ala1145=) c.3261T>G (p.Ala1087=) | |
16 | g.2285490A>G | CA493124330 | ABCA3 | c.3435T>C (p.Ala1145=) c.3261T>C (p.Ala1087=) | gnomAD v4 |
16 | g.2285490A>T | CA493124322 | ABCA3 | c.3435T>A (p.Ala1145=) c.3261T>A (p.Ala1087=) | |
16 | g.2285491G>A | CA394316598 | ABCA3 | c.3434C>T (p.Ala1145Val) c.3260C>T (p.Ala1087Val) | |
16 | g.2285491G>C | CA394316597 | ABCA3 | c.3434C>G (p.Ala1145Gly) c.3260C>G (p.Ala1087Gly) | |
16 | g.2285491G= | CA2202149730 | ABCA3 | c.3434C= (p.Ala1145=) c.3260C= (p.Ala1087=) | |
16 | g.2285491G>T | CA394316596 | ABCA3 | c.3434C>A (p.Ala1145Asp) c.3260C>A (p.Ala1087Asp) | dbSNP gnomAD v2 |
16 | g.2285492C>A | CA394316599 | ABCA3 | c.3433G>T (p.Ala1145Ser) c.3259G>T (p.Ala1087Ser) | |
16 | g.2285492C>G | CA394316600 | ABCA3 | c.3433G>C (p.Ala1145Pro) c.3259G>C (p.Ala1087Pro) | |
16 | g.2285492C>T | CA394316601 | ABCA3 | c.3433G>A (p.Ala1145Thr) c.3259G>A (p.Ala1087Thr) | |
16 | g.2285493A>C | CA493124355 | ABCA3 | c.3432T>G (p.Ser1144=) c.3258T>G (p.Ser1086=) | |
16 | g.2285493A>G | CA493124359 | ABCA3 | c.3432T>C (p.Ser1144=) c.3258T>C (p.Ser1086=) | ClinVar |
16 | g.2285493A>T | CA493124357 | ABCA3 | c.3432T>A (p.Ser1144=) c.3258T>A (p.Ser1086=) | |
16 | g.2285494G>A | CA394316602 | ABCA3 | c.3431C>T (p.Ser1144Phe) c.3257C>T (p.Ser1086Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285494G>C | CA394316603 | ABCA3 | c.3431C>G (p.Ser1144Cys) c.3257C>G (p.Ser1086Cys) | |
16 | g.2285494G= | CA2202149731 | ABCA3 | c.3431C= (p.Ser1144=) c.3257C= (p.Ser1086=) | |
16 | g.2285494G>T | CA394316604 | ABCA3 | c.3431C>A (p.Ser1144Tyr) c.3257C>A (p.Ser1086Tyr) | |
16 | g.2285495A>C | CA394316607 | ABCA3 | c.3430T>G (p.Ser1144Ala) c.3256T>G (p.Ser1086Ala) | |
16 | g.2285495A>G | CA394316605 | ABCA3 | c.3430T>C (p.Ser1144Pro) c.3256T>C (p.Ser1086Pro) | |
16 | g.2285495A>T | CA394316606 | ABCA3 | c.3430T>A (p.Ser1144Thr) c.3256T>A (p.Ser1086Thr) | |
16 | g.2285496G>A | CA493124395 | ABCA3 | c.3429C>T (p.Leu1143=) c.3255C>T (p.Leu1085=) | |
16 | g.2285496G>C | CA493124397 | ABCA3 | c.3429C>G (p.Leu1143=) c.3255C>G (p.Leu1085=) | gnomAD v4 |
16 | g.2285496G>T | CA493124398 | ABCA3 | c.3429C>A (p.Leu1143=) c.3255C>A (p.Leu1085=) | gnomAD v4 |
16 | g.2285497A= | CA2202149732 | ABCA3 | c.3428T= (p.Leu1143=) c.3254T= (p.Leu1085=) | |
16 | g.2285497A>C | CA394316608 | ABCA3 | c.3428T>G (p.Leu1143Arg) c.3254T>G (p.Leu1085Arg) | |
16 | g.2285497A>G | CA276822624 | ABCA3 | c.3428T>C (p.Leu1143Pro) c.3254T>C (p.Leu1085Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2285497A>T | CA394316609 | ABCA3 | c.3428T>A (p.Leu1143His) c.3254T>A (p.Leu1085His) | |
16 | g.2285498G>A | CA394316610 | ABCA3 | c.3427C>T (p.Leu1143Phe) c.3253C>T (p.Leu1085Phe) | |
16 | g.2285498G>C | CA394316611 | ABCA3 | c.3427C>G (p.Leu1143Val) c.3253C>G (p.Leu1085Val) | |
16 | g.2285498G>T | CA394316612 | ABCA3 | c.3427C>A (p.Leu1143Ile) c.3253C>A (p.Leu1085Ile) | |
16 | g.2285499C>A | CA394316613 | ABCA3 | c.3426G>T (p.Trp1142Cys) c.3252G>T (p.Trp1084Cys) | |
16 | g.2285499C= | CA2202149733 | ABCA3 | c.3426G= (p.Trp1142=) c.3252G= (p.Trp1084=) | |
16 | g.2285499C>G | CA394316614 | ABCA3 | c.3426G>C (p.Trp1142Cys) c.3252G>C (p.Trp1084Cys) | gnomAD v4 |
16 | g.2285499C>T | CA119212 | ABCA3 | c.3426G>A (p.Trp1142Ter) c.3252G>A (p.Trp1084Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2285500C>A | CA394316615 | ABCA3 | c.3425G>T (p.Trp1142Leu) c.3251G>T (p.Trp1084Leu) | |
16 | g.2285500C= | CA2202149734 | ABCA3 | c.3425G= (p.Trp1142=) c.3251G= (p.Trp1084=) | |
16 | g.2285500C>G | CA394316616 | ABCA3 | c.3425G>C (p.Trp1142Ser) c.3251G>C (p.Trp1084Ser) | |
16 | g.2285500C>T | CA394316617 | ABCA3 | c.3425G>A (p.Trp1142Ter) c.3251G>A (p.Trp1084Ter) | dbSNP gnomAD v2 |
16 | g.2285501A= | CA2202149735 | ABCA3 | c.3424T= (p.Trp1142=) c.3250T= (p.Trp1084=) | |
16 | g.2285501A>C | CA394316618 | ABCA3 | c.3424T>G (p.Trp1142Gly) c.3250T>G (p.Trp1084Gly) | |
16 | g.2285501A>G | CA394316620 | ABCA3 | c.3424T>C (p.Trp1142Arg) c.3250T>C (p.Trp1084Arg) | |
16 | g.2285501A>T | CA394316619 | ABCA3 | c.3424T>A (p.Trp1142Arg) c.3250T>A (p.Trp1084Arg) | dbSNP |
16 | g.2285502G>A | CA493124499 | ABCA3 | c.3423C>T (p.Phe1141=) c.3249C>T (p.Phe1083=) | |
16 | g.2285502G>C | CA394316621 | ABCA3 | c.3423C>G (p.Phe1141Leu) c.3249C>G (p.Phe1083Leu) | |
16 | g.2285502G>T | CA394316622 | ABCA3 | c.3423C>A (p.Phe1141Leu) c.3249C>A (p.Phe1083Leu) | |
16 | g.2285503A>C | CA394316623 | ABCA3 | c.3422T>G (p.Phe1141Cys) c.3248T>G (p.Phe1083Cys) | |
16 | g.2285503A>G | CA394316624 | ABCA3 | c.3422T>C (p.Phe1141Ser) c.3248T>C (p.Phe1083Ser) | |
16 | g.2285503A>T | CA394316625 | ABCA3 | c.3422T>A (p.Phe1141Tyr) c.3248T>A (p.Phe1083Tyr) | |
16 | g.2285504A>C | CA394316627 | ABCA3 | c.3421T>G (p.Phe1141Val) c.3247T>G (p.Phe1083Val) | |
16 | g.2285504A>G | CA394316629 | ABCA3 | c.3421T>C (p.Phe1141Leu) c.3247T>C (p.Phe1083Leu) | |
16 | g.2285504A>T | CA394316631 | ABCA3 | c.3421T>A (p.Phe1141Ile) c.3247T>A (p.Phe1083Ile) | gnomAD v4 |
16 | g.2285505A>C | CA394316634 | ABCA3 | c.3420T>G (p.Ser1140Arg) c.3246T>G (p.Ser1082Arg) | |
16 | g.2285505A>G | CA493124557 | ABCA3 | c.3420T>C (p.Ser1140=) c.3246T>C (p.Ser1082=) | |
16 | g.2285505A>T | CA394316635 | ABCA3 | c.3420T>A (p.Ser1140Arg) c.3246T>A (p.Ser1082Arg) | |
16 | g.2285506C>A | CA394316637 | ABCA3 | c.3419G>T (p.Ser1140Ile) c.3245G>T (p.Ser1082Ile) | |
16 | g.2285506C= | CA2202149736 | ABCA3 | c.3419G= (p.Ser1140=) c.3245G= (p.Ser1082=) | |
16 | g.2285506C>G | CA394316640 | ABCA3 | c.3419G>C (p.Ser1140Thr) c.3245G>C (p.Ser1082Thr) | |
16 | g.2285506C>T | CA276822628 | ABCA3 | c.3419G>A (p.Ser1140Asn) c.3245G>A (p.Ser1082Asn) | dbSNP gnomAD v4 |
16 | g.2285507T>A | CA394316641 | ABCA3 | c.3418A>T (p.Ser1140Cys) c.3244A>T (p.Ser1082Cys) | |
16 | g.2285507T>C | CA394316645 | ABCA3 | c.3418A>G (p.Ser1140Gly) c.3244A>G (p.Ser1082Gly) | |
16 | g.2285507T>G | CA394316643 | ABCA3 | c.3418A>C (p.Ser1140Arg) c.3244A>C (p.Ser1082Arg) |