Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108625749G>A | CA413854617 | COL4A5 | c.3061G>A (p.Gly1021Arg) n.2517G>A c.294G>A c.2737G>A (p.Gly913Arg) c.634G>A (p.Gly212Arg) c.3076G>A (p.Gly1026Arg) c.1396G>A (p.Gly466Arg) | |
X | g.108625749G>C | CA413854620 | COL4A5 | c.3061G>C (p.Gly1021Arg) n.2517G>C c.294G>C c.2737G>C (p.Gly913Arg) c.634G>C (p.Gly212Arg) c.3076G>C (p.Gly1026Arg) c.1396G>C (p.Gly466Arg) | |
X | g.108625749G>T | CA413854618 | COL4A5 | c.3061G>T (p.Gly1021Ter) n.2517G>T c.294G>T c.2737G>T (p.Gly913Ter) c.634G>T (p.Gly212Ter) c.3076G>T (p.Gly1026Ter) c.1396G>T (p.Gly466Ter) | |
X | g.108625750G>A | CA413854623 | COL4A5 | c.3062G>A (p.Gly1021Glu) n.2518G>A c.295G>A c.2738G>A (p.Gly913Glu) c.635G>A (p.Gly212Glu) c.3077G>A (p.Gly1026Glu) c.1397G>A (p.Gly466Glu) | dbSNP |
X | g.108625750G>C | CA413854625 | COL4A5 | c.3062G>C (p.Gly1021Ala) n.2518G>C c.295G>C c.2738G>C (p.Gly913Ala) c.635G>C (p.Gly212Ala) c.3077G>C (p.Gly1026Ala) c.1397G>C (p.Gly466Ala) | COSMIC |
X | g.108625750G= | CA2450697906 | COL4A5 | c.3062G= (p.Gly1021=) n.2518G= c.295G= c.2738G= (p.Gly913=) c.635G= (p.Gly212=) c.3077G= (p.Gly1026=) c.1397G= (p.Gly466=) | |
X | g.108625750G>T | CA413854626 | COL4A5 | c.3062G>T (p.Gly1021Val) n.2518G>T c.295G>T c.2738G>T (p.Gly913Val) c.635G>T (p.Gly212Val) c.3077G>T (p.Gly1026Val) c.1397G>T (p.Gly466Val) | |
X | g.108625751A= | CA2450697907 | COL4A5 | c.3063A= (p.Gly1021=) n.2519A= c.296A= c.2739A= (p.Gly913=) c.636A= (p.Gly212=) c.3078A= (p.Gly1026=) c.1398A= (p.Gly466=) | |
X | g.108625751A>C | CA517925366 | COL4A5 | c.3063A>C (p.Gly1021=) n.2519A>C c.296A>C c.2739A>C (p.Gly913=) c.636A>C (p.Gly212=) c.3078A>C (p.Gly1026=) c.1398A>C (p.Gly466=) | gnomAD v4 |
X | g.108625751A>G | CA517925367 | COL4A5 | c.3063A>G (p.Gly1021=) n.2519A>G c.296A>G c.2739A>G (p.Gly913=) c.636A>G (p.Gly212=) c.3078A>G (p.Gly1026=) c.1398A>G (p.Gly466=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625751A>T | CA517925368 | COL4A5 | c.3063A>T (p.Gly1021=) n.2519A>T c.296A>T c.2739A>T (p.Gly913=) c.636A>T (p.Gly212=) c.3078A>T (p.Gly1026=) c.1398A>T (p.Gly466=) | |
X | g.108625752C>A | CA413854628 | COL4A5 | c.3064C>A (p.Pro1022Thr) n.2520C>A c.297C>A c.2740C>A (p.Pro914Thr) c.637C>A (p.Pro213Thr) c.3079C>A (p.Pro1027Thr) c.1399C>A (p.Pro467Thr) | dbSNP gnomAD v4 |
X | g.108625752C= | CA2450697908 | COL4A5 | c.3064C= (p.Pro1022=) n.2520C= c.297C= c.2740C= (p.Pro914=) c.637C= (p.Pro213=) c.3079C= (p.Pro1027=) c.1399C= (p.Pro467=) | |
X | g.108625752C>G | CA413854630 | COL4A5 | c.3064C>G (p.Pro1022Ala) n.2520C>G c.297C>G c.2740C>G (p.Pro914Ala) c.637C>G (p.Pro213Ala) c.3079C>G (p.Pro1027Ala) c.1399C>G (p.Pro467Ala) | |
X | g.108625752C>T | CA413854632 | COL4A5 | c.3064C>T (p.Pro1022Ser) n.2520C>T c.297C>T c.2740C>T (p.Pro914Ser) c.637C>T (p.Pro213Ser) c.3079C>T (p.Pro1027Ser) c.1399C>T (p.Pro467Ser) | gnomAD v4 |
X | g.108625753C>A | CA334052342 | COL4A5 | c.3065C>A (p.Pro1022His) n.2521C>A c.298C>A c.2741C>A (p.Pro914His) c.638C>A (p.Pro213His) c.3080C>A (p.Pro1027His) c.1400C>A (p.Pro467His) | dbSNP |
X | g.108625753C= | CA2450697909 | COL4A5 | c.3065C= (p.Pro1022=) n.2521C= c.298C= c.2741C= (p.Pro914=) c.638C= (p.Pro213=) c.3080C= (p.Pro1027=) c.1400C= (p.Pro467=) | |
X | g.108625753C>G | CA413854634 | COL4A5 | c.3065C>G (p.Pro1022Arg) n.2521C>G c.298C>G c.2741C>G (p.Pro914Arg) c.638C>G (p.Pro213Arg) c.3080C>G (p.Pro1027Arg) c.1400C>G (p.Pro467Arg) | |
X | g.108625753C>T | CA413854636 | COL4A5 | c.3065C>T (p.Pro1022Leu) n.2521C>T c.298C>T c.2741C>T (p.Pro914Leu) c.638C>T (p.Pro213Leu) c.3080C>T (p.Pro1027Leu) c.1400C>T (p.Pro467Leu) | |
X | g.108625754T>A | CA517925369 | COL4A5 | c.3066T>A (p.Pro1022=) n.2522T>A c.299T>A c.2742T>A (p.Pro914=) c.639T>A (p.Pro213=) c.3081T>A (p.Pro1027=) c.1401T>A (p.Pro467=) | |
X | g.108625754T>C | CA517925370 | COL4A5 | c.3066T>C (p.Pro1022=) n.2522T>C c.299T>C c.2742T>C (p.Pro914=) c.639T>C (p.Pro213=) c.3081T>C (p.Pro1027=) c.1401T>C (p.Pro467=) | |
X | g.108625754T>G | CA517925372 | COL4A5 | c.3066T>G (p.Pro1022=) n.2522T>G c.299T>G c.2742T>G (p.Pro914=) c.639T>G (p.Pro213=) c.3081T>G (p.Pro1027=) c.1401T>G (p.Pro467=) | |
X | g.108625755C>A | CA10489026 | COL4A5 | c.3067C>A (p.Pro1023Thr) n.2523C>A c.300C>A c.2743C>A (p.Pro915Thr) c.640C>A (p.Pro214Thr) c.3082C>A (p.Pro1028Thr) c.1402C>A (p.Pro468Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108625755C= | CA2450697910 | COL4A5 | c.3067C= (p.Pro1023=) n.2523C= c.300C= c.2743C= (p.Pro915=) c.640C= (p.Pro214=) c.3082C= (p.Pro1028=) c.1402C= (p.Pro468=) | |
X | g.108625755C>G | CA413854638 | COL4A5 | c.3067C>G (p.Pro1023Ala) n.2523C>G c.300C>G c.2743C>G (p.Pro915Ala) c.640C>G (p.Pro214Ala) c.3082C>G (p.Pro1028Ala) c.1402C>G (p.Pro468Ala) | gnomAD v4 |
X | g.108625755C>T | CA413854640 | COL4A5 | c.3067C>T (p.Pro1023Ser) n.2523C>T c.300C>T c.2743C>T (p.Pro915Ser) c.640C>T (p.Pro214Ser) c.3082C>T (p.Pro1028Ser) c.1402C>T (p.Pro468Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.108625756C>A | CA413854644 | COL4A5 | c.3068C>A (p.Pro1023His) n.2524C>A c.301C>A c.2744C>A (p.Pro915His) c.641C>A (p.Pro214His) c.3083C>A (p.Pro1028His) c.1403C>A (p.Pro468His) | |
X | g.108625756C>G | CA413854646 | COL4A5 | c.3068C>G (p.Pro1023Arg) n.2524C>G c.301C>G c.2744C>G (p.Pro915Arg) c.641C>G (p.Pro214Arg) c.3083C>G (p.Pro1028Arg) c.1403C>G (p.Pro468Arg) | |
X | g.108625756C>T | CA413854642 | COL4A5 | c.3068C>T (p.Pro1023Leu) n.2524C>T c.301C>T c.2744C>T (p.Pro915Leu) c.641C>T (p.Pro214Leu) c.3083C>T (p.Pro1028Leu) c.1403C>T (p.Pro468Leu) | |
X | g.108625757T>A | CA517925373 | COL4A5 | c.3069T>A (p.Pro1023=) n.2525T>A c.302T>A c.2745T>A (p.Pro915=) c.642T>A (p.Pro214=) c.3084T>A (p.Pro1028=) c.1404T>A (p.Pro468=) | |
X | g.108625757T>C | CA517925374 | COL4A5 | c.3069T>C (p.Pro1023=) n.2525T>C c.302T>C c.2745T>C (p.Pro915=) c.642T>C (p.Pro214=) c.3084T>C (p.Pro1028=) c.1404T>C (p.Pro468=) | dbSNP gnomAD v4 |
X | g.108625757T>G | CA517925375 | COL4A5 | c.3069T>G (p.Pro1023=) n.2525T>G c.302T>G c.2745T>G (p.Pro915=) c.642T>G (p.Pro214=) c.3084T>G (p.Pro1028=) c.1404T>G (p.Pro468=) | COSMIC |
X | g.108625757T= | CA2450697911 | COL4A5 | c.3069T= (p.Pro1023=) n.2525T= c.302T= c.2745T= (p.Pro915=) c.642T= (p.Pro214=) c.3084T= (p.Pro1028=) c.1404T= (p.Pro468=) | |
X | g.108625758G>A | CA413854648 | COL4A5 | c.3070G>A (p.Gly1024Arg) n.2526G>A c.303G>A c.2746G>A (p.Gly916Arg) c.643G>A (p.Gly215Arg) c.3085G>A (p.Gly1029Arg) c.1405G>A (p.Gly469Arg) | |
X | g.108625758G>C | CA413854651 | COL4A5 | c.3070G>C (p.Gly1024Arg) n.2526G>C c.303G>C c.2746G>C (p.Gly916Arg) c.643G>C (p.Gly215Arg) c.3085G>C (p.Gly1029Arg) c.1405G>C (p.Gly469Arg) | |
X | g.108625758G>T | CA413854650 | COL4A5 | c.3070G>T (p.Gly1024Ter) n.2526G>T c.303G>T c.2746G>T (p.Gly916Ter) c.643G>T (p.Gly215Ter) c.3085G>T (p.Gly1029Ter) c.1405G>T (p.Gly469Ter) | |
X | g.108625761_108625769del | CA2697544690 | COL4A5 | c.3073_3081del (p.Leu1025_Gly1027del) n.2529_2537del c.306_314del c.2749_2757del (p.Leu917_Gly919del) c.646_654del (p.Leu216_Gly218del) c.3088_3096del (p.Leu1030_Gly1032del) c.1408_1416del (p.Leu470_Gly472del) | ClinVar |
X | g.108625759G>A | CA413854653 | COL4A5 | c.3071G>A (p.Gly1024Glu) n.2527G>A c.304G>A c.2747G>A (p.Gly916Glu) c.644G>A (p.Gly215Glu) c.3086G>A (p.Gly1029Glu) c.1406G>A (p.Gly469Glu) | |
X | g.108625759G>C | CA413854656 | COL4A5 | c.3071G>C (p.Gly1024Ala) n.2527G>C c.304G>C c.2747G>C (p.Gly916Ala) c.644G>C (p.Gly215Ala) c.3086G>C (p.Gly1029Ala) c.1406G>C (p.Gly469Ala) | |
X | g.108625759G= | CA2450697912 | COL4A5 | c.3071G= (p.Gly1024=) n.2527G= c.304G= c.2747G= (p.Gly916=) c.644G= (p.Gly215=) c.3086G= (p.Gly1029=) c.1406G= (p.Gly469=) | |
X | g.108625759G>T | CA413854655 | COL4A5 | c.3071G>T (p.Gly1024Val) n.2527G>T c.304G>T c.2747G>T (p.Gly916Val) c.644G>T (p.Gly215Val) c.3086G>T (p.Gly1029Val) c.1406G>T (p.Gly469Val) | |
X | g.108625760del | CA2499226322 | COL4A5 | c.3072del (p.Gly1027GlufsTer?) n.2528del c.305del c.2748del (p.Gly919GlufsTer?) c.645del (p.Gly218GlufsTer?) c.3087del (p.Gly1032GlufsTer?) c.1407del (p.Gly472GlufsTer?) | ClinVar dbSNP |
X | g.108625760A>C | CA517925376 | COL4A5 | c.3072A>C (p.Gly1024=) n.2528A>C c.305A>C c.2748A>C (p.Gly916=) c.645A>C (p.Gly215=) c.3087A>C (p.Gly1029=) c.1407A>C (p.Gly469=) | |
X | g.108625760A>G | CA517925377 | COL4A5 | c.3072A>G (p.Gly1024=) n.2528A>G c.305A>G c.2748A>G (p.Gly916=) c.645A>G (p.Gly215=) c.3087A>G (p.Gly1029=) c.1407A>G (p.Gly469=) | |
X | g.108625760A>T | CA517925378 | COL4A5 | c.3072A>T (p.Gly1024=) n.2528A>T c.305A>T c.2748A>T (p.Gly916=) c.645A>T (p.Gly215=) c.3087A>T (p.Gly1029=) c.1407A>T (p.Gly469=) | |
X | g.108625761C>A | CA413854659 | COL4A5 | c.3073C>A (p.Leu1025Ile) n.2529C>A c.306C>A c.2749C>A (p.Leu917Ile) c.646C>A (p.Leu216Ile) c.3088C>A (p.Leu1030Ile) c.1408C>A (p.Leu470Ile) | |
X | g.108625761C>G | CA413854662 | COL4A5 | c.3073C>G (p.Leu1025Val) n.2529C>G c.306C>G c.2749C>G (p.Leu917Val) c.646C>G (p.Leu216Val) c.3088C>G (p.Leu1030Val) c.1408C>G (p.Leu470Val) | |
X | g.108625761C>T | CA413854661 | COL4A5 | c.3073C>T (p.Leu1025Phe) n.2529C>T c.306C>T c.2749C>T (p.Leu917Phe) c.646C>T (p.Leu216Phe) c.3088C>T (p.Leu1030Phe) c.1408C>T (p.Leu470Phe) | |
X | g.108625762T>A | CA413854665 | COL4A5 | c.3074T>A (p.Leu1025His) n.2530T>A c.307T>A c.2750T>A (p.Leu917His) c.647T>A (p.Leu216His) c.3089T>A (p.Leu1030His) c.1409T>A (p.Leu470His) | gnomAD v4 |
X | g.108625762T>C | CA413854668 | COL4A5 | c.3074T>C (p.Leu1025Pro) n.2530T>C c.307T>C c.2750T>C (p.Leu917Pro) c.647T>C (p.Leu216Pro) c.3089T>C (p.Leu1030Pro) c.1409T>C (p.Leu470Pro) | |
X | g.108625762T>G | CA413854666 | COL4A5 | c.3074T>G (p.Leu1025Arg) n.2530T>G c.307T>G c.2750T>G (p.Leu917Arg) c.647T>G (p.Leu216Arg) c.3089T>G (p.Leu1030Arg) c.1409T>G (p.Leu470Arg) | COSMIC |
X | g.108625763T>A | CA517925379 | COL4A5 | c.3075T>A (p.Leu1025=) n.2531T>A c.308T>A c.2751T>A (p.Leu917=) c.648T>A (p.Leu216=) c.3090T>A (p.Leu1030=) c.1410T>A (p.Leu470=) | |
X | g.108625763T>C | CA517925380 | COL4A5 | c.3075T>C (p.Leu1025=) n.2531T>C c.308T>C c.2751T>C (p.Leu917=) c.648T>C (p.Leu216=) c.3090T>C (p.Leu1030=) c.1410T>C (p.Leu470=) | |
X | g.108625763T>G | CA517925381 | COL4A5 | c.3075T>G (p.Leu1025=) n.2531T>G c.308T>G c.2751T>G (p.Leu917=) c.648T>G (p.Leu216=) c.3090T>G (p.Leu1030=) c.1410T>G (p.Leu470=) | |
X | g.108625764A>C | CA413854670 | COL4A5 | c.3076A>C (p.Lys1026Gln) n.2532A>C c.309A>C c.2752A>C (p.Lys918Gln) c.649A>C (p.Lys217Gln) c.3091A>C (p.Lys1031Gln) c.1411A>C (p.Lys471Gln) | gnomAD v4 |
X | g.108625764A>G | CA413854674 | COL4A5 | c.3076A>G (p.Lys1026Glu) n.2532A>G c.309A>G c.2752A>G (p.Lys918Glu) c.649A>G (p.Lys217Glu) c.3091A>G (p.Lys1031Glu) c.1411A>G (p.Lys471Glu) | |
X | g.108625764A>T | CA413854672 | COL4A5 | c.3076A>T (p.Lys1026Ter) n.2532A>T c.309A>T c.2752A>T (p.Lys918Ter) c.649A>T (p.Lys217Ter) c.3091A>T (p.Lys1031Ter) c.1411A>T (p.Lys471Ter) | |
X | g.108625765A>C | CA413854676 | COL4A5 | c.3077A>C (p.Lys1026Thr) n.2533A>C c.310A>C c.2753A>C (p.Lys918Thr) c.650A>C (p.Lys217Thr) c.3092A>C (p.Lys1031Thr) c.1412A>C (p.Lys471Thr) | gnomAD v4 |
X | g.108625765A>G | CA413854679 | COL4A5 | c.3077A>G (p.Lys1026Arg) n.2533A>G c.310A>G c.2753A>G (p.Lys918Arg) c.650A>G (p.Lys217Arg) c.3092A>G (p.Lys1031Arg) c.1412A>G (p.Lys471Arg) | |
X | g.108625765A>T | CA413854678 | COL4A5 | c.3077A>T (p.Lys1026Ile) n.2533A>T c.310A>T c.2753A>T (p.Lys918Ile) c.650A>T (p.Lys217Ile) c.3092A>T (p.Lys1031Ile) c.1412A>T (p.Lys471Ile) | |
X | g.108625766A>C | CA413854681 | COL4A5 | c.3078A>C (p.Lys1026Asn) n.2534A>C c.311A>C c.2754A>C (p.Lys918Asn) c.651A>C (p.Lys217Asn) c.3093A>C (p.Lys1031Asn) c.1413A>C (p.Lys471Asn) | |
X | g.108625766A>G | CA517925382 | COL4A5 | c.3078A>G (p.Lys1026=) n.2534A>G c.311A>G c.2754A>G (p.Lys918=) c.651A>G (p.Lys217=) c.3093A>G (p.Lys1031=) c.1413A>G (p.Lys471=) | |
X | g.108625766A>T | CA413854683 | COL4A5 | c.3078A>T (p.Lys1026Asn) n.2534A>T c.311A>T c.2754A>T (p.Lys918Asn) c.651A>T (p.Lys217Asn) c.3093A>T (p.Lys1031Asn) c.1413A>T (p.Lys471Asn) | |
X | g.108625767G>A | CA413854685 | COL4A5 | c.3079G>A (p.Gly1027Arg) n.2535G>A c.312G>A c.2755G>A (p.Gly919Arg) c.652G>A (p.Gly218Arg) c.3094G>A (p.Gly1032Arg) c.1414G>A (p.Gly472Arg) | ClinVar dbSNP |
X | g.108625767G>C | CA413854687 | COL4A5 | c.3079G>C (p.Gly1027Arg) n.2535G>C c.312G>C c.2755G>C (p.Gly919Arg) c.652G>C (p.Gly218Arg) c.3094G>C (p.Gly1032Arg) c.1414G>C (p.Gly472Arg) | |
X | g.108625767G>T | CA413854688 | COL4A5 | c.3079G>T (p.Gly1027Ter) n.2535G>T c.312G>T c.2755G>T (p.Gly919Ter) c.652G>T (p.Gly218Ter) c.3094G>T (p.Gly1032Ter) c.1414G>T (p.Gly472Ter) | |
X | g.108625768G>A | CA413854690 | COL4A5 | c.3080G>A (p.Gly1027Glu) n.2536G>A c.313G>A c.2756G>A (p.Gly919Glu) c.653G>A (p.Gly218Glu) c.3095G>A (p.Gly1032Glu) c.1415G>A (p.Gly472Glu) | ClinVar dbSNP COSMIC |
X | g.108625768G>C | CA413854692 | COL4A5 | c.3080G>C (p.Gly1027Ala) n.2536G>C c.313G>C c.2756G>C (p.Gly919Ala) c.653G>C (p.Gly218Ala) c.3095G>C (p.Gly1032Ala) c.1415G>C (p.Gly472Ala) | |
X | g.108625768G= | CA2450697913 | COL4A5 | c.3080G= (p.Gly1027=) n.2536G= c.313G= c.2756G= (p.Gly919=) c.653G= (p.Gly218=) c.3095G= (p.Gly1032=) c.1415G= (p.Gly472=) | |
X | g.108625768G>T | CA258800 | COL4A5 | c.3080G>T (p.Gly1027Val) n.2536G>T c.313G>T c.2756G>T (p.Gly919Val) c.653G>T (p.Gly218Val) c.3095G>T (p.Gly1032Val) c.1415G>T (p.Gly472Val) | dbSNP |
X | g.108625769A>C | CA517925385 | COL4A5 | c.3081A>C (p.Gly1027=) n.2537A>C c.314A>C c.2757A>C (p.Gly919=) c.654A>C (p.Gly218=) c.3096A>C (p.Gly1032=) c.1416A>C (p.Gly472=) | |
X | g.108625769A>G | CA517925384 | COL4A5 | c.3081A>G (p.Gly1027=) n.2537A>G c.314A>G c.2757A>G (p.Gly919=) c.654A>G (p.Gly218=) c.3096A>G (p.Gly1032=) c.1416A>G (p.Gly472=) | |
X | g.108625769A>T | CA517925383 | COL4A5 | c.3081A>T (p.Gly1027=) n.2537A>T c.314A>T c.2757A>T (p.Gly919=) c.654A>T (p.Gly218=) c.3096A>T (p.Gly1032=) c.1416A>T (p.Gly472=) | gnomAD v4 |
X | g.108625770A= | CA2450697914 | COL4A5 | c.3082A= (p.Thr1028=) n.2538A= c.315A= c.2758A= (p.Thr920=) c.655A= (p.Thr219=) c.3097A= (p.Thr1033=) c.1417A= (p.Thr473=) | |
X | g.108625770A>C | CA413854694 | COL4A5 | c.3082A>C (p.Thr1028Pro) n.2538A>C c.315A>C c.2758A>C (p.Thr920Pro) c.655A>C (p.Thr219Pro) c.3097A>C (p.Thr1033Pro) c.1417A>C (p.Thr473Pro) | |
X | g.108625770A>G | CA413854696 | COL4A5 | c.3082A>G (p.Thr1028Ala) n.2538A>G c.315A>G c.2758A>G (p.Thr920Ala) c.655A>G (p.Thr219Ala) c.3097A>G (p.Thr1033Ala) c.1417A>G (p.Thr473Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625770A>T | CA413854698 | COL4A5 | c.3082A>T (p.Thr1028Ser) n.2538A>T c.315A>T c.2758A>T (p.Thr920Ser) c.655A>T (p.Thr219Ser) c.3097A>T (p.Thr1033Ser) c.1417A>T (p.Thr473Ser) | |
X | g.108625771C>A | CA413854703 | COL4A5 | c.3083C>A (p.Thr1028Asn) n.2539C>A c.316C>A c.2759C>A (p.Thr920Asn) c.656C>A (p.Thr219Asn) c.3098C>A (p.Thr1033Asn) c.1418C>A (p.Thr473Asn) | COSMIC COSMIC |
X | g.108625771C>G | CA413854700 | COL4A5 | c.3083C>G (p.Thr1028Ser) n.2539C>G c.316C>G c.2759C>G (p.Thr920Ser) c.656C>G (p.Thr219Ser) c.3098C>G (p.Thr1033Ser) c.1418C>G (p.Thr473Ser) | |
X | g.108625771C>T | CA413854702 | COL4A5 | c.3083C>T (p.Thr1028Ile) n.2539C>T c.316C>T c.2759C>T (p.Thr920Ile) c.656C>T (p.Thr219Ile) c.3098C>T (p.Thr1033Ile) c.1418C>T (p.Thr473Ile) | |
X | g.108625772C>A | CA517925386 | COL4A5 | c.3084C>A (p.Thr1028=) n.2540C>A c.317C>A c.2760C>A (p.Thr920=) c.657C>A (p.Thr219=) c.3099C>A (p.Thr1033=) c.1419C>A (p.Thr473=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625772C= | CA2450697915 | COL4A5 | c.3084C= (p.Thr1028=) n.2540C= c.317C= c.2760C= (p.Thr920=) c.657C= (p.Thr219=) c.3099C= (p.Thr1033=) c.1419C= (p.Thr473=) | |
X | g.108625772C>G | CA517925387 | COL4A5 | c.3084C>G (p.Thr1028=) n.2540C>G c.317C>G c.2760C>G (p.Thr920=) c.657C>G (p.Thr219=) c.3099C>G (p.Thr1033=) c.1419C>G (p.Thr473=) | |
X | g.108625772C>T | CA10489027 | COL4A5 | c.3084C>T (p.Thr1028=) n.2540C>T c.317C>T c.2760C>T (p.Thr920=) c.657C>T (p.Thr219=) c.3099C>T (p.Thr1033=) c.1419C>T (p.Thr473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108625773A>C | CA413854706 | COL4A5 | c.3085A>C (p.Ile1029Leu) n.2541A>C c.318A>C c.2761A>C (p.Ile921Leu) c.658A>C (p.Ile220Leu) c.3100A>C (p.Ile1034Leu) c.1420A>C (p.Ile474Leu) | |
X | g.108625773A>G | CA413854708 | COL4A5 | c.3085A>G (p.Ile1029Val) n.2541A>G c.318A>G c.2761A>G (p.Ile921Val) c.658A>G (p.Ile220Val) c.3100A>G (p.Ile1034Val) c.1420A>G (p.Ile474Val) | ClinVar gnomAD v4 |
X | g.108625773A>T | CA413854710 | COL4A5 | c.3085A>T (p.Ile1029Phe) n.2541A>T c.318A>T c.2761A>T (p.Ile921Phe) c.658A>T (p.Ile220Phe) c.3100A>T (p.Ile1034Phe) c.1420A>T (p.Ile474Phe) | ClinVar dbSNP |
X | g.108625775_108625781del | CA2573159097 | COL4A5 | c.3087_3093del (p.Gly1030TrpfsTer?) n.2543_2549del c.320_326del c.2763_2769del (p.Gly922TrpfsTer?) c.660_666del (p.Gly221TrpfsTer?) c.3102_3108del (p.Gly1035TrpfsTer?) c.1422_1428del (p.Gly475TrpfsTer?) | ClinVar dbSNP |
X | g.108625774T>A | CA413854712 | COL4A5 | c.3086T>A (p.Ile1029Asn) n.2542T>A c.319T>A c.2762T>A (p.Ile921Asn) c.659T>A (p.Ile220Asn) c.3101T>A (p.Ile1034Asn) c.1421T>A (p.Ile474Asn) | |
X | g.108625774T>C | CA413854713 | COL4A5 | c.3086T>C (p.Ile1029Thr) n.2542T>C c.319T>C c.2762T>C (p.Ile921Thr) c.659T>C (p.Ile220Thr) c.3101T>C (p.Ile1034Thr) c.1421T>C (p.Ile474Thr) | |
X | g.108625774T>G | CA413854715 | COL4A5 | c.3086T>G (p.Ile1029Ser) n.2542T>G c.319T>G c.2762T>G (p.Ile921Ser) c.659T>G (p.Ile220Ser) c.3101T>G (p.Ile1034Ser) c.1421T>G (p.Ile474Ser) | |
X | g.108625775del | CA2579676636 | COL4A5 | c.3087del (p.Ile1029MetfsTer?) n.2543del c.320del c.2763del (p.Ile921MetfsTer?) c.660del (p.Ile220MetfsTer?) c.3102del (p.Ile1034MetfsTer?) c.1422del (p.Ile474MetfsTer?) | |
X | g.108625775C>A | CA517925388 | COL4A5 | c.3087C>A (p.Ile1029=) n.2543C>A c.320C>A c.2763C>A (p.Ile921=) c.660C>A (p.Ile220=) c.3102C>A (p.Ile1034=) c.1422C>A (p.Ile474=) | |
X | g.108625775C= | CA2450697916 | COL4A5 | c.3087C= (p.Ile1029=) n.2543C= c.320C= c.2763C= (p.Ile921=) c.660C= (p.Ile220=) c.3102C= (p.Ile1034=) c.1422C= (p.Ile474=) | |
X | g.108625775C>G | CA413854717 | COL4A5 | c.3087C>G (p.Ile1029Met) n.2543C>G c.320C>G c.2763C>G (p.Ile921Met) c.660C>G (p.Ile220Met) c.3102C>G (p.Ile1034Met) c.1422C>G (p.Ile474Met) | |
X | g.108625775C>T | CA10489028 | COL4A5 | c.3087C>T (p.Ile1029=) n.2543C>T c.320C>T c.2763C>T (p.Ile921=) c.660C>T (p.Ile220=) c.3102C>T (p.Ile1034=) c.1422C>T (p.Ile474=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.108625776G>A | CA258803 | COL4A5 | c.3088G>A (p.Gly1030Ser) n.2544G>A c.321G>A c.2764G>A (p.Gly922Ser) c.661G>A (p.Gly221Ser) c.3103G>A (p.Gly1035Ser) c.1423G>A (p.Gly475Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108625776G>C | CA413854721 | COL4A5 | c.3088G>C (p.Gly1030Arg) n.2544G>C c.321G>C c.2764G>C (p.Gly922Arg) c.661G>C (p.Gly221Arg) c.3103G>C (p.Gly1035Arg) c.1423G>C (p.Gly475Arg) | |
X | g.108625776G= | CA2450697917 | COL4A5 | c.3088G= (p.Gly1030=) n.2544G= c.321G= c.2764G= (p.Gly922=) c.661G= (p.Gly221=) c.3103G= (p.Gly1035=) c.1423G= (p.Gly475=) | |
X | g.108625776G>T | CA413854719 | COL4A5 | c.3088G>T (p.Gly1030Cys) n.2544G>T c.321G>T c.2764G>T (p.Gly922Cys) c.661G>T (p.Gly221Cys) c.3103G>T (p.Gly1035Cys) c.1423G>T (p.Gly475Cys) | |
X | g.108625777G>A | CA413854724 | COL4A5 | c.3089G>A (p.Gly1030Asp) n.2545G>A c.322G>A c.2765G>A (p.Gly922Asp) c.662G>A (p.Gly221Asp) c.3104G>A (p.Gly1035Asp) c.1424G>A (p.Gly475Asp) | |
X | g.108625777G>C | CA413854725 | COL4A5 | c.3089G>C (p.Gly1030Ala) n.2545G>C c.322G>C c.2765G>C (p.Gly922Ala) c.662G>C (p.Gly221Ala) c.3104G>C (p.Gly1035Ala) c.1424G>C (p.Gly475Ala) | |
X | g.108625777G>T | CA413854727 | COL4A5 | c.3089G>T (p.Gly1030Val) n.2545G>T c.322G>T c.2765G>T (p.Gly922Val) c.662G>T (p.Gly221Val) c.3104G>T (p.Gly1035Val) c.1424G>T (p.Gly475Val) | |
X | g.108625778T>A | CA517925389 | COL4A5 | c.3090T>A (p.Gly1030=) n.2546T>A c.323T>A c.2766T>A (p.Gly922=) c.663T>A (p.Gly221=) c.3105T>A (p.Gly1035=) c.1425T>A (p.Gly475=) | |
X | g.108625778T>C | CA517925390 | COL4A5 | c.3090T>C (p.Gly1030=) n.2546T>C c.323T>C c.2766T>C (p.Gly922=) c.663T>C (p.Gly221=) c.3105T>C (p.Gly1035=) c.1425T>C (p.Gly475=) | |
X | g.108625778T>G | CA517925391 | COL4A5 | c.3090T>G (p.Gly1030=) n.2546T>G c.323T>G c.2766T>G (p.Gly922=) c.663T>G (p.Gly221=) c.3105T>G (p.Gly1035=) c.1425T>G (p.Gly475=) | |
X | g.108625779G>A | CA413854729 | COL4A5 | c.3091G>A (p.Asp1031Asn) n.2547G>A c.324G>A c.2767G>A (p.Asp923Asn) c.664G>A (p.Asp222Asn) c.3106G>A (p.Asp1036Asn) c.1426G>A (p.Asp476Asn) | |
X | g.108625779G>C | CA413854730 | COL4A5 | c.3091G>C (p.Asp1031His) n.2547G>C c.324G>C c.2767G>C (p.Asp923His) c.664G>C (p.Asp222His) c.3106G>C (p.Asp1036His) c.1426G>C (p.Asp476His) | |
X | g.108625779G>T | CA413854732 | COL4A5 | c.3091G>T (p.Asp1031Tyr) n.2547G>T c.324G>T c.2767G>T (p.Asp923Tyr) c.664G>T (p.Asp222Tyr) c.3106G>T (p.Asp1036Tyr) c.1426G>T (p.Asp476Tyr) | |
X | g.108625780A= | CA2450697918 | COL4A5 | c.3092A= (p.Asp1031=) n.2548A= c.325A= c.2768A= (p.Asp923=) c.665A= (p.Asp222=) c.3107A= (p.Asp1036=) c.1427A= (p.Asp476=) | |
X | g.108625780A>C | CA413854734 | COL4A5 | c.3092A>C (p.Asp1031Ala) n.2548A>C c.325A>C c.2768A>C (p.Asp923Ala) c.665A>C (p.Asp222Ala) c.3107A>C (p.Asp1036Ala) c.1427A>C (p.Asp476Ala) | |
X | g.108625780A>G | CA413854735 | COL4A5 | c.3092A>G (p.Asp1031Gly) n.2548A>G c.325A>G c.2768A>G (p.Asp923Gly) c.665A>G (p.Asp222Gly) c.3107A>G (p.Asp1036Gly) c.1427A>G (p.Asp476Gly) | dbSNP gnomAD v4 |
X | g.108625780A>T | CA413854738 | COL4A5 | c.3092A>T (p.Asp1031Val) n.2548A>T c.325A>T c.2768A>T (p.Asp923Val) c.665A>T (p.Asp222Val) c.3107A>T (p.Asp1036Val) c.1427A>T (p.Asp476Val) | |
X | g.108625782_108625783del | CA2695235753 | COL4A5 | c.3094_3095del (p.Met1032GlyfsTer?) n.2550_2551del c.327_328del c.2770_2771del (p.Met924GlyfsTer?) c.667_668del (p.Met223GlyfsTer?) c.3109_3110del (p.Met1037GlyfsTer?) c.1429_1430del (p.Met477GlyfsTer?) | |
X | g.108625781T>A | CA413854740 | COL4A5 | c.3093T>A (p.Asp1031Glu) n.2549T>A c.326T>A c.2769T>A (p.Asp923Glu) c.666T>A (p.Asp222Glu) c.3108T>A (p.Asp1036Glu) c.1428T>A (p.Asp476Glu) | |
X | g.108625781T>C | CA517925392 | COL4A5 | c.3093T>C (p.Asp1031=) n.2549T>C c.326T>C c.2769T>C (p.Asp923=) c.666T>C (p.Asp222=) c.3108T>C (p.Asp1036=) c.1428T>C (p.Asp476=) | |
X | g.108625781T>G | CA413854743 | COL4A5 | c.3093T>G (p.Asp1031Glu) n.2549T>G c.326T>G c.2769T>G (p.Asp923Glu) c.666T>G (p.Asp222Glu) c.3108T>G (p.Asp1036Glu) c.1428T>G (p.Asp476Glu) | |
X | g.108625782A= | CA2450697919 | COL4A5 | c.3094A= (p.Met1032=) n.2550A= c.327A= c.2770A= (p.Met924=) c.667A= (p.Met223=) c.3109A= (p.Met1037=) c.1429A= (p.Met477=) | |
X | g.108625782A>C | CA413854749 | COL4A5 | c.3094A>C (p.Met1032Leu) n.2550A>C c.327A>C c.2770A>C (p.Met924Leu) c.667A>C (p.Met223Leu) c.3109A>C (p.Met1037Leu) c.1429A>C (p.Met477Leu) | |
X | g.108625782A>G | CA413854747 | COL4A5 | c.3094A>G (p.Met1032Val) n.2550A>G c.327A>G c.2770A>G (p.Met924Val) c.667A>G (p.Met223Val) c.3109A>G (p.Met1037Val) c.1429A>G (p.Met477Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625782A>T | CA413854745 | COL4A5 | c.3094A>T (p.Met1032Leu) n.2550A>T c.327A>T c.2770A>T (p.Met924Leu) c.667A>T (p.Met223Leu) c.3109A>T (p.Met1037Leu) c.1429A>T (p.Met477Leu) | |
X | g.108625783T>A | CA413854751 | COL4A5 | c.3095T>A (p.Met1032Lys) n.2551T>A c.328T>A c.2771T>A (p.Met924Lys) c.668T>A (p.Met223Lys) c.3110T>A (p.Met1037Lys) c.1430T>A (p.Met477Lys) | |
X | g.108625783T>C | CA10489029 | COL4A5 | c.3095T>C (p.Met1032Thr) n.2551T>C c.328T>C c.2771T>C (p.Met924Thr) c.668T>C (p.Met223Thr) c.3110T>C (p.Met1037Thr) c.1430T>C (p.Met477Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108625783T>G | CA413854753 | COL4A5 | c.3095T>G (p.Met1032Arg) n.2551T>G c.328T>G c.2771T>G (p.Met924Arg) c.668T>G (p.Met223Arg) c.3110T>G (p.Met1037Arg) c.1430T>G (p.Met477Arg) | |
X | g.108625783T= | CA2450697920 | COL4A5 | c.3095T= (p.Met1032=) n.2551T= c.328T= c.2771T= (p.Met924=) c.668T= (p.Met223=) c.3110T= (p.Met1037=) c.1430T= (p.Met477=) | |
X | g.108625784G>A | CA413854755 | COL4A5 | c.3096G>A (p.Met1032Ile) n.2552G>A c.329G>A c.2772G>A (p.Met924Ile) c.669G>A (p.Met223Ile) c.3111G>A (p.Met1037Ile) c.1431G>A (p.Met477Ile) | dbSNP |
X | g.108625784G>C | CA413854757 | COL4A5 | c.3096G>C (p.Met1032Ile) n.2552G>C c.329G>C c.2772G>C (p.Met924Ile) c.669G>C (p.Met223Ile) c.3111G>C (p.Met1037Ile) c.1431G>C (p.Met477Ile) | |
X | g.108625784G= | CA2450697921 | COL4A5 | c.3096G= (p.Met1032=) n.2552G= c.329G= c.2772G= (p.Met924=) c.669G= (p.Met223=) c.3111G= (p.Met1037=) c.1431G= (p.Met477=) | |
X | g.108625784G>T | CA413854759 | COL4A5 | c.3096G>T (p.Met1032Ile) n.2552G>T c.329G>T c.2772G>T (p.Met924Ile) c.669G>T (p.Met223Ile) c.3111G>T (p.Met1037Ile) c.1431G>T (p.Met477Ile) | |
X | g.108625785G>A | CA413854761 | COL4A5 | c.3097G>A (p.Gly1033Ser) n.2553G>A c.330G>A c.2773G>A (p.Gly925Ser) c.670G>A (p.Gly224Ser) c.3112G>A (p.Gly1038Ser) c.1432G>A (p.Gly478Ser) | ClinVar |
X | g.108625785G>C | CA413854763 | COL4A5 | c.3097G>C (p.Gly1033Arg) n.2553G>C c.330G>C c.2773G>C (p.Gly925Arg) c.670G>C (p.Gly224Arg) c.3112G>C (p.Gly1038Arg) c.1432G>C (p.Gly478Arg) | |
X | g.108625785G>T | CA413854765 | COL4A5 | c.3097G>T (p.Gly1033Cys) n.2553G>T c.330G>T c.2773G>T (p.Gly925Cys) c.670G>T (p.Gly224Cys) c.3112G>T (p.Gly1038Cys) c.1432G>T (p.Gly478Cys) | ClinVar |
X | g.108625786G>A | CA413854767 | COL4A5 | c.3098G>A (p.Gly1033Asp) n.2554G>A c.331G>A c.2774G>A (p.Gly925Asp) c.671G>A (p.Gly224Asp) c.3113G>A (p.Gly1038Asp) c.1433G>A (p.Gly478Asp) | ClinVar |
X | g.108625786G>C | CA413854769 | COL4A5 | c.3098G>C (p.Gly1033Ala) n.2554G>C c.331G>C c.2774G>C (p.Gly925Ala) c.671G>C (p.Gly224Ala) c.3113G>C (p.Gly1038Ala) c.1433G>C (p.Gly478Ala) | |
X | g.108625786G>T | CA413854770 | COL4A5 | c.3098G>T (p.Gly1033Val) n.2554G>T c.331G>T c.2774G>T (p.Gly925Val) c.671G>T (p.Gly224Val) c.3113G>T (p.Gly1038Val) c.1433G>T (p.Gly478Val) | ClinVar |
X | g.108625787T>A | CA517925395 | COL4A5 | c.3099T>A (p.Gly1033=) n.2555T>A c.332T>A c.2775T>A (p.Gly925=) c.672T>A (p.Gly224=) c.3114T>A (p.Gly1038=) c.1434T>A (p.Gly478=) | |
X | g.108625787T>C | CA517925393 | COL4A5 | c.3099T>C (p.Gly1033=) n.2555T>C c.332T>C c.2775T>C (p.Gly925=) c.672T>C (p.Gly224=) c.3114T>C (p.Gly1038=) c.1434T>C (p.Gly478=) | |
X | g.108625787T>G | CA517925394 | COL4A5 | c.3099T>G (p.Gly1033=) n.2555T>G c.332T>G c.2775T>G (p.Gly925=) c.672T>G (p.Gly224=) c.3114T>G (p.Gly1038=) c.1434T>G (p.Gly478=) | |
X | g.108625790del | CA2579676637 | COL4A5 | c.3102del (p.Pro1035GlnfsTer?) n.2558del c.335del c.2778del (p.Pro927GlnfsTer?) c.675del (p.Pro226GlnfsTer?) c.3117del (p.Pro1040GlnfsTer?) c.1437del (p.Pro480GlnfsTer?) | |
X | g.108625788T>A | CA413854773 | COL4A5 | c.3100T>A (p.Phe1034Ile) n.2556T>A c.333T>A c.2776T>A (p.Phe926Ile) c.673T>A (p.Phe225Ile) c.3115T>A (p.Phe1039Ile) c.1435T>A (p.Phe479Ile) | |
X | g.108625788T>C | CA413854775 | COL4A5 | c.3100T>C (p.Phe1034Leu) n.2556T>C c.333T>C c.2776T>C (p.Phe926Leu) c.673T>C (p.Phe225Leu) c.3115T>C (p.Phe1039Leu) c.1435T>C (p.Phe479Leu) | gnomAD v4 |
X | g.108625788T>G | CA413854771 | COL4A5 | c.3100T>G (p.Phe1034Val) n.2556T>G c.333T>G c.2776T>G (p.Phe926Val) c.673T>G (p.Phe225Val) c.3115T>G (p.Phe1039Val) c.1435T>G (p.Phe479Val) | |
X | g.108625789T>A | CA413854780 | COL4A5 | c.3101T>A (p.Phe1034Tyr) n.2557T>A c.334T>A c.2777T>A (p.Phe926Tyr) c.674T>A (p.Phe225Tyr) c.3116T>A (p.Phe1039Tyr) c.1436T>A (p.Phe479Tyr) | |
X | g.108625789T>C | CA413854777 | COL4A5 | c.3101T>C (p.Phe1034Ser) n.2557T>C c.334T>C c.2777T>C (p.Phe926Ser) c.674T>C (p.Phe225Ser) c.3116T>C (p.Phe1039Ser) c.1436T>C (p.Phe479Ser) | |
X | g.108625789T>G | CA413854779 | COL4A5 | c.3101T>G (p.Phe1034Cys) n.2557T>G c.334T>G c.2777T>G (p.Phe926Cys) c.674T>G (p.Phe225Cys) c.3116T>G (p.Phe1039Cys) c.1436T>G (p.Phe479Cys) | |
X | g.108625790T>A | CA413854782 | COL4A5 | c.3102T>A (p.Phe1034Leu) n.2558T>A c.335T>A c.2778T>A (p.Phe926Leu) c.675T>A (p.Phe225Leu) c.3117T>A (p.Phe1039Leu) c.1437T>A (p.Phe479Leu) | |
X | g.108625790T>C | CA517925396 | COL4A5 | c.3102T>C (p.Phe1034=) n.2558T>C c.335T>C c.2778T>C (p.Phe926=) c.675T>C (p.Phe225=) c.3117T>C (p.Phe1039=) c.1437T>C (p.Phe479=) | |
X | g.108625790T>G | CA413854784 | COL4A5 | c.3102T>G (p.Phe1034Leu) n.2558T>G c.335T>G c.2778T>G (p.Phe926Leu) c.675T>G (p.Phe225Leu) c.3117T>G (p.Phe1039Leu) c.1437T>G (p.Phe479Leu) | |
X | g.108625791C>A | CA413854785 | COL4A5 | c.3103C>A (p.Pro1035Thr) n.2559C>A c.336C>A c.2779C>A (p.Pro927Thr) c.676C>A (p.Pro226Thr) c.3118C>A (p.Pro1040Thr) c.1438C>A (p.Pro480Thr) | |
X | g.108625791C>G | CA413854787 | COL4A5 | c.3103C>G (p.Pro1035Ala) n.2559C>G c.336C>G c.2779C>G (p.Pro927Ala) c.676C>G (p.Pro226Ala) c.3118C>G (p.Pro1040Ala) c.1438C>G (p.Pro480Ala) | |
X | g.108625791C>T | CA413854789 | COL4A5 | c.3103C>T (p.Pro1035Ser) n.2559C>T c.336C>T c.2779C>T (p.Pro927Ser) c.676C>T (p.Pro226Ser) c.3118C>T (p.Pro1040Ser) c.1438C>T (p.Pro480Ser) | |
X | g.108625792del | CA2579676638 | COL4A5 | c.3104del (p.Pro1035GlnfsTer?) n.2560del c.337del c.2780del (p.Pro927GlnfsTer?) c.677del (p.Pro226GlnfsTer?) c.3119del (p.Pro1040GlnfsTer?) c.1439del (p.Pro480GlnfsTer?) | gnomAD v4 |
X | g.108625792C>A | CA413854791 | COL4A5 | c.3104C>A (p.Pro1035Gln) n.2560C>A c.337C>A c.2780C>A (p.Pro927Gln) c.677C>A (p.Pro226Gln) c.3119C>A (p.Pro1040Gln) c.1439C>A (p.Pro480Gln) | |
X | g.108625792C>G | CA413854793 | COL4A5 | c.3104C>G (p.Pro1035Arg) n.2560C>G c.337C>G c.2780C>G (p.Pro927Arg) c.677C>G (p.Pro226Arg) c.3119C>G (p.Pro1040Arg) c.1439C>G (p.Pro480Arg) | |
X | g.108625792C>T | CA413854794 | COL4A5 | c.3104C>T (p.Pro1035Leu) n.2560C>T c.337C>T c.2780C>T (p.Pro927Leu) c.677C>T (p.Pro226Leu) c.3119C>T (p.Pro1040Leu) c.1439C>T (p.Pro480Leu) | |
X | g.108625793A>C | CA517925398 | COL4A5 | c.3105A>C (p.Pro1035=) n.2561A>C c.338A>C c.2781A>C (p.Pro927=) c.678A>C (p.Pro226=) c.3120A>C (p.Pro1040=) c.1440A>C (p.Pro480=) | |
X | g.108625793A>G | CA517925399 | COL4A5 | c.3105A>G (p.Pro1035=) n.2561A>G c.338A>G c.2781A>G (p.Pro927=) c.678A>G (p.Pro226=) c.3120A>G (p.Pro1040=) c.1440A>G (p.Pro480=) | gnomAD v4 |
X | g.108625793A>T | CA517925397 | COL4A5 | c.3105A>T (p.Pro1035=) n.2561A>T c.338A>T c.2781A>T (p.Pro927=) c.678A>T (p.Pro226=) c.3120A>T (p.Pro1040=) c.1440A>T (p.Pro480=) | |
X | g.108625794G>A | CA413854795 | COL4A5 | c.3106G>A (p.Gly1036Arg) n.2562G>A c.339G>A c.2782G>A (p.Gly928Arg) c.679G>A (p.Gly227Arg) c.3121G>A (p.Gly1041Arg) c.1441G>A (p.Gly481Arg) | |
X | g.108625794G>C | CA413854797 | COL4A5 | c.3106G>C (p.Gly1036Arg) n.2562G>C c.339G>C c.2782G>C (p.Gly928Arg) c.679G>C (p.Gly227Arg) c.3121G>C (p.Gly1041Arg) c.1441G>C (p.Gly481Arg) | ClinVar dbSNP |
X | g.108625794G>T | CA413854798 | COL4A5 | c.3106G>T (p.Gly1036Trp) n.2562G>T c.339G>T c.2782G>T (p.Gly928Trp) c.679G>T (p.Gly227Trp) c.3121G>T (p.Gly1041Trp) c.1441G>T (p.Gly481Trp) | |
X | g.108625795G>A | CA413854803 | COL4A5 | c.3106+1G>A (n.3106+1G>A) n.2562+1G>A c.339+1G>A c.2782+1G>A (n.2782+1G>A) c.679+1G>A (n.679+1G>A) c.3121+1G>A (n.3121+1G>A) c.1441+1G>A (n.1441+1G>A) | ClinVar dbSNP |
X | g.108625795G>C | CA413854800 | COL4A5 | c.3106+1G>C (n.3106+1G>C) n.2562+1G>C c.339+1G>C c.2782+1G>C (n.2782+1G>C) c.679+1G>C (n.679+1G>C) c.3121+1G>C (n.3121+1G>C) c.1441+1G>C (n.1441+1G>C) | |
X | g.108625795G>T | CA413854802 | COL4A5 | c.3106+1G>T (n.3106+1G>T) n.2562+1G>T c.339+1G>T c.2782+1G>T (n.2782+1G>T) c.679+1G>T (n.679+1G>T) c.3121+1G>T (n.3121+1G>T) c.1441+1G>T (n.1441+1G>T) | |
X | g.108625796T>A | CA413854805 | COL4A5 | c.3106+2T>A (n.3106+2T>A) n.2562+2T>A c.339+2T>A c.2782+2T>A (n.2782+2T>A) c.679+2T>A (n.679+2T>A) c.3121+2T>A (n.3121+2T>A) c.1441+2T>A (n.1441+2T>A) | |
X | g.108625796T>C | CA413854807 | COL4A5 | c.3106+2T>C (n.3106+2T>C) n.2562+2T>C c.339+2T>C c.2782+2T>C (n.2782+2T>C) c.679+2T>C (n.679+2T>C) c.3121+2T>C (n.3121+2T>C) c.1441+2T>C (n.1441+2T>C) | gnomAD v4 |
X | g.108625796T>G | CA413854808 | COL4A5 | c.3106+2T>G (n.3106+2T>G) n.2562+2T>G c.339+2T>G c.2782+2T>G (n.2782+2T>G) c.679+2T>G (n.679+2T>G) c.3121+2T>G (n.3121+2T>G) c.1441+2T>G (n.1441+2T>G) | |
X | g.108625797G>A | CA2694440526 | COL4A5 | c.3106+3G>A (n.3106+3G>A) n.2562+3G>A c.339+3G>A c.2782+3G>A (n.2782+3G>A) c.679+3G>A (n.679+3G>A) c.3121+3G>A (n.3121+3G>A) c.1441+3G>A (n.1441+3G>A) | gnomAD v4 |
X | g.108625798del | CA2695235754 | COL4A5 | c.3106+4del (n.3106+4del) n.2562+4del c.339+4del c.2782+4del (n.2782+4del) c.679+4del (n.679+4del) c.3121+4del (n.3121+4del) c.1441+4del (n.1441+4del) | |
X | g.108625800T>A | CA2579676639 | COL4A5 | c.3106+6T>A (n.3106+6T>A) n.2562+6T>A c.339+6T>A c.2782+6T>A (n.2782+6T>A) c.679+6T>A (n.679+6T>A) c.3121+6T>A (n.3121+6T>A) c.1441+6T>A (n.1441+6T>A) | |
X | g.108625803_108625805dup | CA2580612311 | COL4A5 | c.3106+9_3106+11dup (n.3106+9_3106+11dup) n.2562+9_2562+11dup c.339+9_339+11dup c.2782+9_2782+11dup (n.2782+9_2782+11dup) c.679+9_679+11dup (n.679+9_679+11dup) c.3121+9_3121+11dup (n.3121+9_3121+11dup) c.1441+9_1441+11dup (n.1441+9_1441+11dup) | ClinVar |
X | g.108625801_108625812del | CA2695235755 | COL4A5 | c.3106+7_3106+18del (n.3106+7_3106+18del) n.2562+7_2562+18del c.339+7_339+18del c.2782+7_2782+18del (n.2782+7_2782+18del) c.679+7_679+18del (n.679+7_679+18del) c.3121+7_3121+18del (n.3121+7_3121+18del) c.1441+7_1441+18del (n.1441+7_1441+18del) | |
X | g.108625801G>A | CA643630775 | COL4A5 | c.3106+7G>A (n.3106+7G>A) n.2562+7G>A c.339+7G>A c.2782+7G>A (n.2782+7G>A) c.679+7G>A (n.679+7G>A) c.3121+7G>A (n.3121+7G>A) c.1441+7G>A (n.1441+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625801G= | CA2450697922 | COL4A5 | c.3106+7G= (n.3106+7G=) n.2562+7G= c.339+7G= c.2782+7G= (n.2782+7G=) c.679+7G= (n.679+7G=) c.3121+7G= (n.3121+7G=) c.1441+7G= (n.1441+7G=) | |
X | g.108625802A>G | CA2694440527 | COL4A5 | c.3106+8A>G (n.3106+8A>G) n.2562+8A>G c.339+8A>G c.2782+8A>G (n.2782+8A>G) c.679+8A>G (n.679+8A>G) c.3121+8A>G (n.3121+8A>G) c.1441+8A>G (n.1441+8A>G) | gnomAD v4 |
X | g.108625803T>C | CA2694440528 | COL4A5 | c.3106+9T>C (n.3106+9T>C) n.2562+9T>C c.339+9T>C c.2782+9T>C (n.2782+9T>C) c.679+9T>C (n.679+9T>C) c.3121+9T>C (n.3121+9T>C) c.1441+9T>C (n.1441+9T>C) | gnomAD v4 |
X | g.108625804G>A | CA2694440529 | COL4A5 | c.3106+10G>A (n.3106+10G>A) n.2562+10G>A c.339+10G>A c.2782+10G>A (n.2782+10G>A) c.679+10G>A (n.679+10G>A) c.3121+10G>A (n.3121+10G>A) c.1441+10G>A (n.1441+10G>A) | gnomAD v4 |
X | g.108625810C>A | CA2694440530 | COL4A5 | c.3106+16C>A (n.3106+16C>A) n.2562+16C>A c.339+16C>A c.2782+16C>A (n.2782+16C>A) c.679+16C>A (n.679+16C>A) c.3121+16C>A (n.3121+16C>A) c.1441+16C>A (n.1441+16C>A) | gnomAD v4 |
X | g.108625811T>C | CA2694440531 | COL4A5 | c.3106+17T>C (n.3106+17T>C) n.2562+17T>C c.339+17T>C c.2782+17T>C (n.2782+17T>C) c.679+17T>C (n.679+17T>C) c.3121+17T>C (n.3121+17T>C) c.1441+17T>C (n.1441+17T>C) | gnomAD v4 |
X | g.108625812T>C | CA2694440532 | COL4A5 | c.3106+18T>C (n.3106+18T>C) n.2562+18T>C c.339+18T>C c.2782+18T>C (n.2782+18T>C) c.679+18T>C (n.679+18T>C) c.3121+18T>C (n.3121+18T>C) c.1441+18T>C (n.1441+18T>C) | gnomAD v4 |
X | g.108625813C>A | CA2694440533 | COL4A5 | c.3106+19C>A (n.3106+19C>A) n.2562+19C>A c.339+19C>A c.2782+19C>A (n.2782+19C>A) c.679+19C>A (n.679+19C>A) c.3121+19C>A (n.3121+19C>A) c.1441+19C>A (n.1441+19C>A) | gnomAD v4 |
X | g.108625813C>G | CA2694440534 | COL4A5 | c.3106+19C>G (n.3106+19C>G) n.2562+19C>G c.339+19C>G c.2782+19C>G (n.2782+19C>G) c.679+19C>G (n.679+19C>G) c.3121+19C>G (n.3121+19C>G) c.1441+19C>G (n.1441+19C>G) | gnomAD v4 |
X | g.108625814C>A | CA2694440535 | COL4A5 | c.3106+20C>A (n.3106+20C>A) n.2562+20C>A c.339+20C>A c.2782+20C>A (n.2782+20C>A) c.679+20C>A (n.679+20C>A) c.3121+20C>A (n.3121+20C>A) c.1441+20C>A (n.1441+20C>A) | gnomAD v4 |
X | g.108625814C>T | CA2694440536 | COL4A5 | c.3106+20C>T (n.3106+20C>T) n.2562+20C>T c.339+20C>T c.2782+20C>T (n.2782+20C>T) c.679+20C>T (n.679+20C>T) c.3121+20C>T (n.3121+20C>T) c.1441+20C>T (n.1441+20C>T) | gnomAD v4 |
X | g.108625815A= | CA2450697923 | COL4A5 | c.3106+21A= (n.3106+21A=) n.2562+21A= c.339+21A= c.2782+21A= (n.2782+21A=) c.679+21A= (n.679+21A=) c.3121+21A= (n.3121+21A=) c.1441+21A= (n.1441+21A=) | |
X | g.108625815A>G | CA2450697924 | COL4A5 | c.3106+21A>G (n.3106+21A>G) n.2562+21A>G c.339+21A>G c.2782+21A>G (n.2782+21A>G) c.679+21A>G (n.679+21A>G) c.3121+21A>G (n.3121+21A>G) c.1441+21A>G (n.1441+21A>G) | dbSNP |
X | g.108625816A= | CA2450697925 | COL4A5 | c.3106+22A= (n.3106+22A=) n.2562+22A= c.339+22A= c.2782+22A= (n.2782+22A=) c.679+22A= (n.679+22A=) c.3121+22A= (n.3121+22A=) c.1441+22A= (n.1441+22A=) | |
X | g.108625816A>C | CA643630777 | COL4A5 | c.3106+22A>C (n.3106+22A>C) n.2562+22A>C c.339+22A>C c.2782+22A>C (n.2782+22A>C) c.679+22A>C (n.679+22A>C) c.3121+22A>C (n.3121+22A>C) c.1441+22A>C (n.1441+22A>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625816A>G | CA643630780 | COL4A5 | c.3106+22A>G (n.3106+22A>G) n.2562+22A>G c.339+22A>G c.2782+22A>G (n.2782+22A>G) c.679+22A>G (n.679+22A>G) c.3121+22A>G (n.3121+22A>G) c.1441+22A>G (n.1441+22A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625816A>T | CA643630779 | COL4A5 | c.3106+22A>T (n.3106+22A>T) n.2562+22A>T c.339+22A>T c.2782+22A>T (n.2782+22A>T) c.679+22A>T (n.679+22A>T) c.3121+22A>T (n.3121+22A>T) c.1441+22A>T (n.1441+22A>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625821T>G | CA1136180184 | COL4A5 | c.3106+27T>G (n.3106+27T>G) n.2562+27T>G c.339+27T>G c.2782+27T>G (n.2782+27T>G) c.679+27T>G (n.679+27T>G) c.3121+27T>G (n.3121+27T>G) c.1441+27T>G (n.1441+27T>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108625821T= | CA2450697926 | COL4A5 | c.3106+27T= (n.3106+27T=) n.2562+27T= c.339+27T= c.2782+27T= (n.2782+27T=) c.679+27T= (n.679+27T=) c.3121+27T= (n.3121+27T=) c.1441+27T= (n.1441+27T=) | |
X | g.108625824G>A | CA10489030 | COL4A5 | c.3106+30G>A (n.3106+30G>A) n.2562+30G>A c.339+30G>A c.2782+30G>A (n.2782+30G>A) c.679+30G>A (n.679+30G>A) c.3121+30G>A (n.3121+30G>A) c.1441+30G>A (n.1441+30G>A) | dbSNP ExAC gnomAD v2 |
X | g.108625824G= | CA2450697927 | COL4A5 | c.3106+30G= (n.3106+30G=) n.2562+30G= c.339+30G= c.2782+30G= (n.2782+30G=) c.679+30G= (n.679+30G=) c.3121+30G= (n.3121+30G=) c.1441+30G= (n.1441+30G=) | |
X | g.108625824G>T | CA869816194 | COL4A5 | c.3106+30G>T (n.3106+30G>T) n.2562+30G>T c.339+30G>T c.2782+30G>T (n.2782+30G>T) c.679+30G>T (n.679+30G>T) c.3121+30G>T (n.3121+30G>T) c.1441+30G>T (n.1441+30G>T) | dbSNP |
X | g.108625825T>G | CA2694440537 | COL4A5 | c.3106+31T>G (n.3106+31T>G) n.2562+31T>G c.339+31T>G c.2782+31T>G (n.2782+31T>G) c.679+31T>G (n.679+31T>G) c.3121+31T>G (n.3121+31T>G) c.1441+31T>G (n.1441+31T>G) | gnomAD v4 |
X | g.108625826C>A | CA2694440538 | COL4A5 | c.3106+32C>A (n.3106+32C>A) n.2562+32C>A c.339+32C>A c.2782+32C>A (n.2782+32C>A) c.679+32C>A (n.679+32C>A) c.3121+32C>A (n.3121+32C>A) c.1441+32C>A (n.1441+32C>A) | gnomAD v4 |
X | g.108625826C= | CA2450697928 | COL4A5 | c.3106+32C= (n.3106+32C=) n.2562+32C= c.339+32C= c.2782+32C= (n.2782+32C=) c.679+32C= (n.679+32C=) c.3121+32C= (n.3121+32C=) c.1441+32C= (n.1441+32C=) | |
X | g.108625826C>G | CA334052375 | COL4A5 | c.3106+32C>G (n.3106+32C>G) n.2562+32C>G c.339+32C>G c.2782+32C>G (n.2782+32C>G) c.679+32C>G (n.679+32C>G) c.3121+32C>G (n.3121+32C>G) c.1441+32C>G (n.1441+32C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108625827C>A | CA10489031 | COL4A5 | c.3106+33C>A (n.3106+33C>A) n.2562+33C>A c.339+33C>A c.2782+33C>A (n.2782+33C>A) c.679+33C>A (n.679+33C>A) c.3121+33C>A (n.3121+33C>A) c.1441+33C>A (n.1441+33C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108625827C= | CA2450697929 | COL4A5 | c.3106+33C= (n.3106+33C=) n.2562+33C= c.339+33C= c.2782+33C= (n.2782+33C=) c.679+33C= (n.679+33C=) c.3121+33C= (n.3121+33C=) c.1441+33C= (n.1441+33C=) | |
X | g.108625827C>T | CA2450697930 | COL4A5 | c.3106+33C>T (n.3106+33C>T) n.2562+33C>T c.339+33C>T c.2782+33C>T (n.2782+33C>T) c.679+33C>T (n.679+33C>T) c.3121+33C>T (n.3121+33C>T) c.1441+33C>T (n.1441+33C>T) | dbSNP |
X | g.108625828C>A | CA2579676640 | COL4A5 | c.3106+34C>A (n.3106+34C>A) n.2562+34C>A c.339+34C>A c.2782+34C>A (n.2782+34C>A) c.679+34C>A (n.679+34C>A) c.3121+34C>A (n.3121+34C>A) c.1441+34C>A (n.1441+34C>A) | gnomAD v4 |
X | g.108625831T>A | CA2694440539 | COL4A5 | c.3106+37T>A (n.3106+37T>A) n.2562+37T>A c.339+37T>A c.2782+37T>A (n.2782+37T>A) c.679+37T>A (n.679+37T>A) c.3121+37T>A (n.3121+37T>A) c.1441+37T>A (n.1441+37T>A) | gnomAD v4 |
X | g.108625834T>A | CA2579676641 | COL4A5 | c.3106+40T>A (n.3106+40T>A) n.2562+40T>A c.339+40T>A c.2782+40T>A (n.2782+40T>A) c.679+40T>A (n.679+40T>A) c.3121+40T>A (n.3121+40T>A) c.1441+40T>A (n.1441+40T>A) | gnomAD v4 |
X | g.108625834T>C | CA10489032 | COL4A5 | c.3106+40T>C (n.3106+40T>C) n.2562+40T>C c.339+40T>C c.2782+40T>C (n.2782+40T>C) c.679+40T>C (n.679+40T>C) c.3121+40T>C (n.3121+40T>C) c.1441+40T>C (n.1441+40T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108625834T= | CA2450697931 | COL4A5 | c.3106+40T= (n.3106+40T=) n.2562+40T= c.339+40T= c.2782+40T= (n.2782+40T=) c.679+40T= (n.679+40T=) c.3121+40T= (n.3121+40T=) c.1441+40T= (n.1441+40T=) | |
X | g.108625837A>G | CA2566257295 | COL4A5 | c.3106+43A>G (n.3106+43A>G) n.2562+43A>G c.339+43A>G c.2782+43A>G (n.2782+43A>G) c.679+43A>G (n.679+43A>G) c.3121+43A>G (n.3121+43A>G) c.1441+43A>G (n.1441+43A>G) | |
X | g.108625838A= | CA2450697932 | COL4A5 | c.3106+44A= (n.3106+44A=) n.2562+44A= c.339+44A= c.2782+44A= (n.2782+44A=) c.679+44A= (n.679+44A=) c.3121+44A= (n.3121+44A=) c.1441+44A= (n.1441+44A=) | |
X | g.108625838A>G | CA643630783 | COL4A5 | c.3106+44A>G (n.3106+44A>G) n.2562+44A>G c.339+44A>G c.2782+44A>G (n.2782+44A>G) c.679+44A>G (n.679+44A>G) c.3121+44A>G (n.3121+44A>G) c.1441+44A>G (n.1441+44A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625839G>A | CA10489033 | COL4A5 | c.3106+45G>A (n.3106+45G>A) n.2562+45G>A c.339+45G>A c.2782+45G>A (n.2782+45G>A) c.679+45G>A (n.679+45G>A) c.3121+45G>A (n.3121+45G>A) c.1441+45G>A (n.1441+45G>A) | dbSNP ExAC gnomAD v2 |
X | g.108625839G>C | CA2694440540 | COL4A5 | c.3106+45G>C (n.3106+45G>C) n.2562+45G>C c.339+45G>C c.2782+45G>C (n.2782+45G>C) c.679+45G>C (n.679+45G>C) c.3121+45G>C (n.3121+45G>C) c.1441+45G>C (n.1441+45G>C) | gnomAD v4 |
X | g.108625839G= | CA2450697933 | COL4A5 | c.3106+45G= (n.3106+45G=) n.2562+45G= c.339+45G= c.2782+45G= (n.2782+45G=) c.679+45G= (n.679+45G=) c.3121+45G= (n.3121+45G=) c.1441+45G= (n.1441+45G=) | |
X | g.108625841del | CA2694440541 | COL4A5 | c.3106+47del (n.3106+47del) n.2562+47del c.339+47del c.2782+47del (n.2782+47del) c.679+47del (n.679+47del) c.3121+47del (n.3121+47del) c.1441+47del (n.1441+47del) | gnomAD v4 |
X | g.108625841T>C | CA2694440542 | COL4A5 | c.3106+47T>C (n.3106+47T>C) n.2562+47T>C c.339+47T>C c.2782+47T>C (n.2782+47T>C) c.679+47T>C (n.679+47T>C) c.3121+47T>C (n.3121+47T>C) c.1441+47T>C (n.1441+47T>C) | gnomAD v4 |
X | g.108625842G>T | CA2579676642 | COL4A5 | c.3106+48G>T (n.3106+48G>T) n.2562+48G>T c.339+48G>T c.2782+48G>T (n.2782+48G>T) c.679+48G>T (n.679+48G>T) c.3121+48G>T (n.3121+48G>T) c.1441+48G>T (n.1441+48G>T) | gnomAD v4 |
X | g.108625843G>A | CA2579676643 | COL4A5 | c.3106+49G>A (n.3106+49G>A) n.2562+49G>A c.339+49G>A c.2782+49G>A (n.2782+49G>A) c.679+49G>A (n.679+49G>A) c.3121+49G>A (n.3121+49G>A) c.1441+49G>A (n.1441+49G>A) | |
X | g.108625843G= | CA2450697934 | COL4A5 | c.3106+49G= (n.3106+49G=) n.2562+49G= c.339+49G= c.2782+49G= (n.2782+49G=) c.679+49G= (n.679+49G=) c.3121+49G= (n.3121+49G=) c.1441+49G= (n.1441+49G=) | |
X | g.108625843G>T | CA2450697935 | COL4A5 | c.3106+49G>T (n.3106+49G>T) n.2562+49G>T c.339+49G>T c.2782+49G>T (n.2782+49G>T) c.679+49G>T (n.679+49G>T) c.3121+49G>T (n.3121+49G>T) c.1441+49G>T (n.1441+49G>T) | dbSNP |
X | g.108625846C>A | CA2822894867 | COL4A5 | c.3106+52C>A (n.3106+52C>A) n.2562+52C>A c.339+52C>A c.2782+52C>A (n.2782+52C>A) c.679+52C>A (n.679+52C>A) c.3121+52C>A (n.3121+52C>A) c.1441+52C>A (n.1441+52C>A) | |
X | g.108625848del | CA2694440543 | COL4A5 | c.3106+54del (n.3106+54del) n.2562+54del c.339+54del c.2782+54del (n.2782+54del) c.679+54del (n.679+54del) c.3121+54del (n.3121+54del) c.1441+54del (n.1441+54del) | gnomAD v4 |
X | g.108625848A= | CA2450697936 | COL4A5 | c.3106+54A= (n.3106+54A=) n.2562+54A= c.339+54A= c.2782+54A= (n.2782+54A=) c.679+54A= (n.679+54A=) c.3121+54A= (n.3121+54A=) c.1441+54A= (n.1441+54A=) | |
X | g.108625848A>G | CA334052390 | COL4A5 | c.3106+54A>G (n.3106+54A>G) n.2562+54A>G c.339+54A>G c.2782+54A>G (n.2782+54A>G) c.679+54A>G (n.679+54A>G) c.3121+54A>G (n.3121+54A>G) c.1441+54A>G (n.1441+54A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108625850_108625851del | CA2694440544 | COL4A5 | c.3106+56_3106+57del (n.3106+56_3106+57del) n.2562+56_2562+57del c.339+56_339+57del c.2782+56_2782+57del (n.2782+56_2782+57del) c.679+56_679+57del (n.679+56_679+57del) c.3121+56_3121+57del (n.3121+56_3121+57del) c.1441+56_1441+57del (n.1441+56_1441+57del) | gnomAD v4 |
X | g.108625849T>C | CA2694440545 | COL4A5 | c.3106+55T>C (n.3106+55T>C) n.2562+55T>C c.339+55T>C c.2782+55T>C (n.2782+55T>C) c.679+55T>C (n.679+55T>C) c.3121+55T>C (n.3121+55T>C) c.1441+55T>C (n.1441+55T>C) | gnomAD v4 |