Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209617546C>A | CA344584284 | LAMB3 | c.3092G>T (p.Ser1031Ile) c.299G>T (p.Ser100Ile) c.2900G>T (p.Ser967Ile) | |
1 | g.209617546C= | CA2484295893 | LAMB3 | c.3092G= (p.Ser1031=) c.299G= (p.Ser100=) c.2900G= (p.Ser967=) | |
1 | g.209617546C>G | CA344584285 | LAMB3 | c.3092G>C (p.Ser1031Thr) c.299G>C (p.Ser100Thr) c.2900G>C (p.Ser967Thr) | |
1 | g.209617546C>T | CA344584287 | LAMB3 | c.3092G>A (p.Ser1031Asn) c.299G>A (p.Ser100Asn) c.2900G>A (p.Ser967Asn) | dbSNP |
1 | g.209617547T>A | CA344584291 | LAMB3 | c.3091A>T (p.Ser1031Cys) c.298A>T (p.Ser100Cys) c.2899A>T (p.Ser967Cys) | |
1 | g.209617547T>C | CA344584298 | LAMB3 | c.3091A>G (p.Ser1031Gly) c.298A>G (p.Ser100Gly) c.2899A>G (p.Ser967Gly) | |
1 | g.209617547T>G | CA344584296 | LAMB3 | c.3091A>C (p.Ser1031Arg) c.298A>C (p.Ser100Arg) c.2899A>C (p.Ser967Arg) | |
1 | g.209617548T>A | CA423029574 | LAMB3 | c.3090A>T (p.Thr1030=) c.297A>T (p.Thr99=) c.2898A>T (p.Thr966=) | |
1 | g.209617548T>C | CA423029575 | LAMB3 | c.3090A>G (p.Thr1030=) c.297A>G (p.Thr99=) c.2898A>G (p.Thr966=) | |
1 | g.209617548T>G | CA423029576 | LAMB3 | c.3090A>C (p.Thr1030=) c.297A>C (p.Thr99=) c.2898A>C (p.Thr966=) | |
1 | g.209617549G>A | CA1374976 | LAMB3 | c.3089C>T (p.Thr1030Ile) c.296C>T (p.Thr99Ile) c.2897C>T (p.Thr966Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617549G>C | CA1374977 | LAMB3 | c.3089C>G (p.Thr1030Arg) c.296C>G (p.Thr99Arg) c.2897C>G (p.Thr966Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617549G= | CA1143831767 | LAMB3 | c.3089C= (p.Thr1030=) c.296C= (p.Thr99=) c.2897C= (p.Thr966=) | |
1 | g.209617549G>T | CA344584303 | LAMB3 | c.3089C>A (p.Thr1030Lys) c.296C>A (p.Thr99Lys) c.2897C>A (p.Thr966Lys) | |
1 | g.209617550T>A | CA344584309 | LAMB3 | c.3088A>T (p.Thr1030Ser) c.295A>T (p.Thr99Ser) c.2896A>T (p.Thr966Ser) | |
1 | g.209617550T>C | CA344584311 | LAMB3 | c.3088A>G (p.Thr1030Ala) c.295A>G (p.Thr99Ala) c.2896A>G (p.Thr966Ala) | dbSNP |
1 | g.209617550T>G | CA344584312 | LAMB3 | c.3088A>C (p.Thr1030Pro) c.295A>C (p.Thr99Pro) c.2896A>C (p.Thr966Pro) | |
1 | g.209617550T= | CA2484295894 | LAMB3 | c.3088A= (p.Thr1030=) c.295A= (p.Thr99=) c.2896A= (p.Thr966=) | |
1 | g.209617551C>A | CA423029579 | LAMB3 | c.3087G>T (p.Val1029=) c.294G>T (p.Val98=) c.2895G>T (p.Val965=) | gnomAD v4 |
1 | g.209617551C>G | CA423029578 | LAMB3 | c.3087G>C (p.Val1029=) c.294G>C (p.Val98=) c.2895G>C (p.Val965=) | |
1 | g.209617551C>T | CA423029577 | LAMB3 | c.3087G>A (p.Val1029=) c.294G>A (p.Val98=) c.2895G>A (p.Val965=) | |
1 | g.209617552A>C | CA344584315 | LAMB3 | c.3086T>G (p.Val1029Gly) c.293T>G (p.Val98Gly) c.2894T>G (p.Val965Gly) | |
1 | g.209617552A>G | CA344584317 | LAMB3 | c.3086T>C (p.Val1029Ala) c.293T>C (p.Val98Ala) c.2894T>C (p.Val965Ala) | gnomAD v4 |
1 | g.209617552A>T | CA344584319 | LAMB3 | c.3086T>A (p.Val1029Glu) c.293T>A (p.Val98Glu) c.2894T>A (p.Val965Glu) | |
1 | g.209617553C>A | CA344584323 | LAMB3 | c.3085G>T (p.Val1029Leu) c.292G>T (p.Val98Leu) c.2893G>T (p.Val965Leu) | |
1 | g.209617553C>G | CA344584324 | LAMB3 | c.3085G>C (p.Val1029Leu) c.292G>C (p.Val98Leu) c.2893G>C (p.Val965Leu) | |
1 | g.209617553C>T | CA344584327 | LAMB3 | c.3085G>A (p.Val1029Met) c.292G>A (p.Val98Met) c.2893G>A (p.Val965Met) | |
1 | g.209617554C>A | CA423029580 | LAMB3 | c.3084G>T (p.Leu1028=) c.291G>T (p.Leu97=) c.2892G>T (p.Leu964=) | |
1 | g.209617554C>G | CA423029581 | LAMB3 | c.3084G>C (p.Leu1028=) c.291G>C (p.Leu97=) c.2892G>C (p.Leu964=) | |
1 | g.209617554C>T | CA423029582 | LAMB3 | c.3084G>A (p.Leu1028=) c.291G>A (p.Leu97=) c.2892G>A (p.Leu964=) | ClinVar dbSNP |
1 | g.209617555A>C | CA344584329 | LAMB3 | c.3083T>G (p.Leu1028Arg) c.290T>G (p.Leu97Arg) c.2891T>G (p.Leu964Arg) | |
1 | g.209617555A>G | CA344584330 | LAMB3 | c.3083T>C (p.Leu1028Pro) c.290T>C (p.Leu97Pro) c.2891T>C (p.Leu964Pro) | |
1 | g.209617555A>T | CA344584332 | LAMB3 | c.3083T>A (p.Leu1028Gln) c.290T>A (p.Leu97Gln) c.2891T>A (p.Leu964Gln) | |
1 | g.209617556G>A | CA423029583 | LAMB3 | c.3082C>T (p.Leu1028=) c.289C>T (p.Leu97=) c.2890C>T (p.Leu964=) | |
1 | g.209617556G>C | CA344584335 | LAMB3 | c.3082C>G (p.Leu1028Val) c.289C>G (p.Leu97Val) c.2890C>G (p.Leu964Val) | |
1 | g.209617556G>T | CA344584339 | LAMB3 | c.3082C>A (p.Leu1028Met) c.289C>A (p.Leu97Met) c.2890C>A (p.Leu964Met) | |
1 | g.209617557C>A | CA344584341 | LAMB3 | c.3081G>T (p.Lys1027Asn) c.288G>T (p.Lys96Asn) c.2889G>T (p.Lys963Asn) | |
1 | g.209617557C>G | CA344584344 | LAMB3 | c.3081G>C (p.Lys1027Asn) c.288G>C (p.Lys96Asn) c.2889G>C (p.Lys963Asn) | |
1 | g.209617557C>T | CA423029584 | LAMB3 | c.3081G>A (p.Lys1027=) c.288G>A (p.Lys96=) c.2889G>A (p.Lys963=) | |
1 | g.209617558T>A | CA344584347 | LAMB3 | c.3080A>T (p.Lys1027Met) c.287A>T (p.Lys96Met) c.2888A>T (p.Lys963Met) | |
1 | g.209617558T>C | CA344584349 | LAMB3 | c.3080A>G (p.Lys1027Arg) c.287A>G (p.Lys96Arg) c.2888A>G (p.Lys963Arg) | dbSNP COSMIC |
1 | g.209617558T>G | CA344584351 | LAMB3 | c.3080A>C (p.Lys1027Thr) c.287A>C (p.Lys96Thr) c.2888A>C (p.Lys963Thr) | |
1 | g.209617558T= | CA2484295895 | LAMB3 | c.3080A= (p.Lys1027=) c.287A= (p.Lys96=) c.2888A= (p.Lys963=) | |
1 | g.209617559T>A | CA344584354 | LAMB3 | c.3079A>T (p.Lys1027Ter) c.286A>T (p.Lys96Ter) c.2887A>T (p.Lys963Ter) | ClinVar dbSNP |
1 | g.209617559T>C | CA344584355 | LAMB3 | c.3079A>G (p.Lys1027Glu) c.286A>G (p.Lys96Glu) c.2887A>G (p.Lys963Glu) | |
1 | g.209617559T>G | CA344584358 | LAMB3 | c.3079A>C (p.Lys1027Gln) c.286A>C (p.Lys96Gln) c.2887A>C (p.Lys963Gln) | |
1 | g.209617560T>A | CA344584360 | LAMB3 | c.3078A>T (p.Glu1026Asp) c.285A>T (p.Glu95Asp) c.2886A>T (p.Glu962Asp) | |
1 | g.209617560T>C | CA423029585 | LAMB3 | c.3078A>G (p.Glu1026=) c.285A>G (p.Glu95=) c.2886A>G (p.Glu962=) | |
1 | g.209617560T>G | CA344584362 | LAMB3 | c.3078A>C (p.Glu1026Asp) c.285A>C (p.Glu95Asp) c.2886A>C (p.Glu962Asp) | |
1 | g.209617561T>A | CA344584367 | LAMB3 | c.3077A>T (p.Glu1026Val) c.284A>T (p.Glu95Val) c.2885A>T (p.Glu962Val) | |
1 | g.209617561T>C | CA344584374 | LAMB3 | c.3077A>G (p.Glu1026Gly) c.284A>G (p.Glu95Gly) c.2885A>G (p.Glu962Gly) | |
1 | g.209617561T>G | CA344584365 | LAMB3 | c.3077A>C (p.Glu1026Ala) c.284A>C (p.Glu95Ala) c.2885A>C (p.Glu962Ala) | |
1 | g.209617562C>A | CA344584377 | LAMB3 | c.3076G>T (p.Glu1026Ter) c.283G>T (p.Glu95Ter) c.2884G>T (p.Glu962Ter) | |
1 | g.209617562C= | CA2484295896 | LAMB3 | c.3076G= (p.Glu1026=) c.283G= (p.Glu95=) c.2884G= (p.Glu962=) | |
1 | g.209617562C>G | CA344584379 | LAMB3 | c.3076G>C (p.Glu1026Gln) c.283G>C (p.Glu95Gln) c.2884G>C (p.Glu962Gln) | dbSNP |
1 | g.209617562C>T | CA344584382 | LAMB3 | c.3076G>A (p.Glu1026Lys) c.283G>A (p.Glu95Lys) c.2884G>A (p.Glu962Lys) | |
1 | g.209617563T>A | CA423029586 | LAMB3 | c.3075A>T (p.Ala1025=) c.282A>T (p.Ala94=) c.2883A>T (p.Ala961=) | |
1 | g.209617563T>C | CA423029587 | LAMB3 | c.3075A>G (p.Ala1025=) c.282A>G (p.Ala94=) c.2883A>G (p.Ala961=) | gnomAD v4 |
1 | g.209617563T>G | CA423029588 | LAMB3 | c.3075A>C (p.Ala1025=) c.282A>C (p.Ala94=) c.2883A>C (p.Ala961=) | gnomAD v4 |
1 | g.209617564G>A | CA344584385 | LAMB3 | c.3074C>T (p.Ala1025Val) c.281C>T (p.Ala94Val) c.2882C>T (p.Ala961Val) | |
1 | g.209617564G>C | CA344584387 | LAMB3 | c.3074C>G (p.Ala1025Gly) c.281C>G (p.Ala94Gly) c.2882C>G (p.Ala961Gly) | |
1 | g.209617564G>T | CA344584388 | LAMB3 | c.3074C>A (p.Ala1025Glu) c.281C>A (p.Ala94Glu) c.2882C>A (p.Ala961Glu) | |
1 | g.209617565C>A | CA344584389 | LAMB3 | c.3073G>T (p.Ala1025Ser) c.280G>T (p.Ala94Ser) c.2881G>T (p.Ala961Ser) | |
1 | g.209617565C>G | CA344584390 | LAMB3 | c.3073G>C (p.Ala1025Pro) c.280G>C (p.Ala94Pro) c.2881G>C (p.Ala961Pro) | gnomAD v4 |
1 | g.209617565C>T | CA344584393 | LAMB3 | c.3073G>A (p.Ala1025Thr) c.280G>A (p.Ala94Thr) c.2881G>A (p.Ala961Thr) | |
1 | g.209617566T>A | CA423029589 | LAMB3 | c.3072A>T (p.Pro1024=) c.279A>T (p.Pro93=) c.2880A>T (p.Pro960=) | |
1 | g.209617566T>C | CA423029590 | LAMB3 | c.3072A>G (p.Pro1024=) c.279A>G (p.Pro93=) c.2880A>G (p.Pro960=) | |
1 | g.209617566T>G | CA423029591 | LAMB3 | c.3072A>C (p.Pro1024=) c.279A>C (p.Pro93=) c.2880A>C (p.Pro960=) | gnomAD v4 |
1 | g.209617567G>A | CA344584395 | LAMB3 | c.3071C>T (p.Pro1024Leu) c.278C>T (p.Pro93Leu) c.2879C>T (p.Pro960Leu) | |
1 | g.209617567G>C | CA344584397 | LAMB3 | c.3071C>G (p.Pro1024Arg) c.278C>G (p.Pro93Arg) c.2879C>G (p.Pro960Arg) | |
1 | g.209617567G>T | CA344584399 | LAMB3 | c.3071C>A (p.Pro1024Gln) c.278C>A (p.Pro93Gln) c.2879C>A (p.Pro960Gln) | |
1 | g.209617568G>A | CA344584404 | LAMB3 | c.3070C>T (p.Pro1024Ser) c.277C>T (p.Pro93Ser) c.2878C>T (p.Pro960Ser) | gnomAD v4 |
1 | g.209617568G>C | CA344584406 | LAMB3 | c.3070C>G (p.Pro1024Ala) c.277C>G (p.Pro93Ala) c.2878C>G (p.Pro960Ala) | |
1 | g.209617568G>T | CA344584402 | LAMB3 | c.3070C>A (p.Pro1024Thr) c.277C>A (p.Pro93Thr) c.2878C>A (p.Pro960Thr) | COSMIC |
1 | g.209617569C>A | CA423029592 | LAMB3 | c.3069G>T (p.Arg1023=) c.276G>T (p.Arg92=) c.2877G>T (p.Arg959=) | dbSNP gnomAD v4 |
1 | g.209617569C= | CA2484295897 | LAMB3 | c.3069G= (p.Arg1023=) c.276G= (p.Arg92=) c.2877G= (p.Arg959=) | |
1 | g.209617569C>G | CA423029593 | LAMB3 | c.3069G>C (p.Arg1023=) c.276G>C (p.Arg92=) c.2877G>C (p.Arg959=) | |
1 | g.209617569C>T | CA423029594 | LAMB3 | c.3069G>A (p.Arg1023=) c.276G>A (p.Arg92=) c.2877G>A (p.Arg959=) | |
1 | g.209617570del | CA2650320260 | LAMB3 | c.3069del (p.Pro1024GlnfsTer6) c.276del (p.Pro93GlnfsTer6) c.2877del (p.Pro960GlnfsTer6) | gnomAD v4 |
1 | g.209617570C>A | CA344584409 | LAMB3 | c.3068G>T (p.Arg1023Leu) c.275G>T (p.Arg92Leu) c.2876G>T (p.Arg959Leu) | |
1 | g.209617570C= | CA1142183836 | LAMB3 | c.3068G= (p.Arg1023=) c.275G= (p.Arg92=) c.2876G= (p.Arg959=) | |
1 | g.209617570C>G | CA344584412 | LAMB3 | c.3068G>C (p.Arg1023Pro) c.275G>C (p.Arg92Pro) c.2876G>C (p.Arg959Pro) | |
1 | g.209617570C>T | CA1374978 | LAMB3 | c.3068G>A (p.Arg1023Gln) c.275G>A (p.Arg92Gln) c.2876G>A (p.Arg959Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617571G>A | CA1374979 | LAMB3 | c.3067C>T (p.Arg1023Trp) c.274C>T (p.Arg92Trp) c.2875C>T (p.Arg959Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617571G>C | CA344584417 | LAMB3 | c.3067C>G (p.Arg1023Gly) c.274C>G (p.Arg92Gly) c.2875C>G (p.Arg959Gly) | |
1 | g.209617571G= | CA1143387997 | LAMB3 | c.3067C= (p.Arg1023=) c.274C= (p.Arg92=) c.2875C= (p.Arg959=) | |
1 | g.209617571G>T | CA423029595 | LAMB3 | c.3067C>A (p.Arg1023=) c.274C>A (p.Arg92=) c.2875C>A (p.Arg959=) | |
1 | g.209617572C>A | CA423029596 | LAMB3 | c.3066G>T (p.Leu1022=) c.273G>T (p.Leu91=) c.2874G>T (p.Leu958=) | |
1 | g.209617572C>G | CA423029598 | LAMB3 | c.3066G>C (p.Leu1022=) c.273G>C (p.Leu91=) c.2874G>C (p.Leu958=) | |
1 | g.209617572C>T | CA423029597 | LAMB3 | c.3066G>A (p.Leu1022=) c.273G>A (p.Leu91=) c.2874G>A (p.Leu958=) | ClinVar dbSNP gnomAD v4 |
1 | g.209617573A>C | CA344584423 | LAMB3 | c.3065T>G (p.Leu1022Arg) c.272T>G (p.Leu91Arg) c.2873T>G (p.Leu958Arg) | |
1 | g.209617573A>G | CA344584419 | LAMB3 | c.3065T>C (p.Leu1022Pro) c.272T>C (p.Leu91Pro) c.2873T>C (p.Leu958Pro) | |
1 | g.209617573A>T | CA344584421 | LAMB3 | c.3065T>A (p.Leu1022Gln) c.272T>A (p.Leu91Gln) c.2873T>A (p.Leu958Gln) | |
1 | g.209617574G>A | CA423029599 | LAMB3 | c.3064C>T (p.Leu1022=) c.271C>T (p.Leu91=) c.2872C>T (p.Leu958=) | COSMIC |
1 | g.209617574G>C | CA344584427 | LAMB3 | c.3064C>G (p.Leu1022Val) c.271C>G (p.Leu91Val) c.2872C>G (p.Leu958Val) | |
1 | g.209617574G>T | CA344584429 | LAMB3 | c.3064C>A (p.Leu1022Met) c.271C>A (p.Leu91Met) c.2872C>A (p.Leu958Met) | |
1 | g.209617575T>A | CA423029600 | LAMB3 | c.3063A>T (p.Val1021=) c.270A>T (p.Val90=) c.2871A>T (p.Val957=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617575T>C | CA423029601 | LAMB3 | c.3063A>G (p.Val1021=) c.270A>G (p.Val90=) c.2871A>G (p.Val957=) | |
1 | g.209617575T>G | CA423029602 | LAMB3 | c.3063A>C (p.Val1021=) c.270A>C (p.Val90=) c.2871A>C (p.Val957=) | |
1 | g.209617575T= | CA2484295898 | LAMB3 | c.3063A= (p.Val1021=) c.270A= (p.Val90=) c.2871A= (p.Val957=) | |
1 | g.209617576A>C | CA344584433 | LAMB3 | c.3062T>G (p.Val1021Gly) c.269T>G (p.Val90Gly) c.2870T>G (p.Val957Gly) | |
1 | g.209617576A>G | CA344584435 | LAMB3 | c.3062T>C (p.Val1021Ala) c.269T>C (p.Val90Ala) c.2870T>C (p.Val957Ala) | |
1 | g.209617576A>T | CA344584437 | LAMB3 | c.3062T>A (p.Val1021Glu) c.269T>A (p.Val90Glu) c.2870T>A (p.Val957Glu) | |
1 | g.209617576_209617577insG | CA2747561720 | LAMB3 | c.3061_3062insC (p.Val1021AlafsTer18) c.268_269insC (p.Val90AlafsTer18) c.2869_2870insC (p.Val957AlafsTer18) | |
1 | g.209617577C>A | CA1374981 | LAMB3 | c.3061G>T (p.Val1021Leu) c.268G>T (p.Val90Leu) c.2869G>T (p.Val957Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617577C= | CA1144144129 | LAMB3 | c.3061G= (p.Val1021=) c.268G= (p.Val90=) c.2869G= (p.Val957=) | |
1 | g.209617577C>G | CA1374980 | LAMB3 | c.3061G>C (p.Val1021Leu) c.268G>C (p.Val90Leu) c.2869G>C (p.Val957Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617577C>T | CA344584440 | LAMB3 | c.3061G>A (p.Val1021Ile) c.268G>A (p.Val90Ile) c.2869G>A (p.Val957Ile) | |
1 | g.209617577_209617578insTTTT | CA2747561722 | LAMB3 | c.3060_3061insAAAA (p.Val1021LysfsTer19) c.267_268insAAAA (p.Val90LysfsTer19) c.2868_2869insAAAA (p.Val957LysfsTer19) | |
1 | g.209617578C>A | CA344584445 | LAMB3 | c.3060G>T (p.Gln1020His) c.267G>T (p.Gln89His) c.2868G>T (p.Gln956His) | |
1 | g.209617578C>G | CA344584448 | LAMB3 | c.3060G>C (p.Gln1020His) c.267G>C (p.Gln89His) c.2868G>C (p.Gln956His) | gnomAD v4 |
1 | g.209617578C>T | CA423029603 | LAMB3 | c.3060G>A (p.Gln1020=) c.267G>A (p.Gln89=) c.2868G>A (p.Gln956=) | |
1 | g.209617579T>A | CA344584451 | LAMB3 | c.3059A>T (p.Gln1020Leu) c.266A>T (p.Gln89Leu) c.2867A>T (p.Gln956Leu) | |
1 | g.209617579T>C | CA344584457 | LAMB3 | c.3059A>G (p.Gln1020Arg) c.266A>G (p.Gln89Arg) c.2867A>G (p.Gln956Arg) | |
1 | g.209617579T>G | CA344584455 | LAMB3 | c.3059A>C (p.Gln1020Pro) c.266A>C (p.Gln89Pro) c.2867A>C (p.Gln956Pro) | COSMIC |
1 | g.209617580G>A | CA344584459 | LAMB3 | c.3058C>T (p.Gln1020Ter) c.265C>T (p.Gln89Ter) c.2866C>T (p.Gln956Ter) | |
1 | g.209617580G>C | CA344584461 | LAMB3 | c.3058C>G (p.Gln1020Glu) c.265C>G (p.Gln89Glu) c.2866C>G (p.Gln956Glu) | |
1 | g.209617580G>T | CA344584463 | LAMB3 | c.3058C>A (p.Gln1020Lys) c.265C>A (p.Gln89Lys) c.2866C>A (p.Gln956Lys) | |
1 | g.209617581C>A | CA344584465 | LAMB3 | c.3057G>T (p.Gln1019His) c.264G>T (p.Gln88His) c.2865G>T (p.Gln955His) | |
1 | g.209617581C>G | CA344584466 | LAMB3 | c.3057G>C (p.Gln1019His) c.264G>C (p.Gln88His) c.2865G>C (p.Gln955His) | gnomAD v4 |
1 | g.209617581C>T | CA423029604 | LAMB3 | c.3057G>A (p.Gln1019=) c.264G>A (p.Gln88=) c.2865G>A (p.Gln955=) | |
1 | g.209617582T>A | CA344584470 | LAMB3 | c.3056A>T (p.Gln1019Leu) c.263A>T (p.Gln88Leu) c.2864A>T (p.Gln955Leu) | COSMIC |
1 | g.209617582T>C | CA344584472 | LAMB3 | c.3056A>G (p.Gln1019Arg) c.263A>G (p.Gln88Arg) c.2864A>G (p.Gln955Arg) | gnomAD v4 |
1 | g.209617582T>G | CA344584474 | LAMB3 | c.3056A>C (p.Gln1019Pro) c.263A>C (p.Gln88Pro) c.2864A>C (p.Gln955Pro) | |
1 | g.209617583G>A | CA344584477 | LAMB3 | c.3055C>T (p.Gln1019Ter) c.262C>T (p.Gln88Ter) c.2863C>T (p.Gln955Ter) | ClinVar dbSNP |
1 | g.209617583G>C | CA344584479 | LAMB3 | c.3055C>G (p.Gln1019Glu) c.262C>G (p.Gln88Glu) c.2863C>G (p.Gln955Glu) | |
1 | g.209617583G= | CA2484295899 | LAMB3 | c.3055C= (p.Gln1019=) c.262C= (p.Gln88=) c.2863C= (p.Gln955=) | |
1 | g.209617583G>T | CA344584481 | LAMB3 | c.3055C>A (p.Gln1019Lys) c.262C>A (p.Gln88Lys) c.2863C>A (p.Gln955Lys) | |
1 | g.209617584A>C | CA423029605 | LAMB3 | c.3054T>G (p.Val1018=) c.261T>G (p.Val87=) c.2862T>G (p.Val954=) | |
1 | g.209617584A>G | CA423029607 | LAMB3 | c.3054T>C (p.Val1018=) c.261T>C (p.Val87=) c.2862T>C (p.Val954=) | |
1 | g.209617584A>T | CA423029606 | LAMB3 | c.3054T>A (p.Val1018=) c.261T>A (p.Val87=) c.2862T>A (p.Val954=) | |
1 | g.209617585A= | CA2484295901 | LAMB3 | c.3053T= (p.Val1018=) c.260T= (p.Val87=) c.2861T= (p.Val954=) | |
1 | g.209617585A>C | CA344584488 | LAMB3 | c.3053T>G (p.Val1018Gly) c.260T>G (p.Val87Gly) c.2861T>G (p.Val954Gly) | |
1 | g.209617585A>G | CA344584486 | LAMB3 | c.3053T>C (p.Val1018Ala) c.260T>C (p.Val87Ala) c.2861T>C (p.Val954Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617585A>T | CA344584484 | LAMB3 | c.3053T>A (p.Val1018Asp) c.260T>A (p.Val87Asp) c.2861T>A (p.Val954Asp) | |
1 | g.209617585_209617586delinsAC | CA2484295900 | LAMB3 | c.3052_3053delinsGT (p.Val1018=) c.259_260delinsGT (p.Val87=) c.2860_2861delinsGT (p.Val954=) | |
1 | g.209617586C>A | CA344584491 | LAMB3 | c.3052G>T (p.Val1018Phe) c.259G>T (p.Val87Phe) c.2860G>T (p.Val954Phe) | gnomAD v4 |
1 | g.209617586C= | CA2484295902 | LAMB3 | c.3052G= (p.Val1018=) c.259G= (p.Val87=) c.2860G= (p.Val954=) | |
1 | g.209617586C>G | CA344584493 | LAMB3 | c.3052G>C (p.Val1018Leu) c.259G>C (p.Val87Leu) c.2860G>C (p.Val954Leu) | |
1 | g.209617586C>T | CA1374982 | LAMB3 | c.3052G>A (p.Val1018Ile) c.259G>A (p.Val87Ile) c.2860G>A (p.Val954Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617587del | CA915941992 | LAMB3 | c.3052del c.259del c.2860del | ClinVar dbSNP |
1 | g.209617587C>A | CA344584498 | LAMB3 | c.3052-1G>T (n.3052-1G>T) c.259-1G>T (n.259-1G>T) c.2860-1G>T (n.2860-1G>T) | |
1 | g.209617587C= | CA2484295903 | LAMB3 | c.3052-1G= (n.3052-1G=) c.259-1G= (n.259-1G=) c.2860-1G= (n.2860-1G=) | |
1 | g.209617587C>G | CA344584499 | LAMB3 | c.3052-1G>C (n.3052-1G>C) c.259-1G>C (n.259-1G>C) c.2860-1G>C (n.2860-1G>C) | |
1 | g.209617587C>T | CA1374983 | LAMB3 | c.3052-1G>A (n.3052-1G>A) c.259-1G>A (n.259-1G>A) c.2860-1G>A (n.2860-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617588T>A | CA344584504 | LAMB3 | c.3052-2A>T (n.3052-2A>T) c.259-2A>T (n.259-2A>T) c.2860-2A>T (n.2860-2A>T) | |
1 | g.209617588T>C | CA344584509 | LAMB3 | c.3052-2A>G (n.3052-2A>G) c.259-2A>G (n.259-2A>G) c.2860-2A>G (n.2860-2A>G) | |
1 | g.209617588T>G | CA344584510 | LAMB3 | c.3052-2A>C (n.3052-2A>C) c.259-2A>C (n.259-2A>C) c.2860-2A>C (n.2860-2A>C) | |
1 | g.209617589T>C | CA36749617 | LAMB3 | c.3052-3A>G (n.3052-3A>G) c.259-3A>G (n.259-3A>G) c.2860-3A>G (n.2860-3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617589T= | CA2484295904 | LAMB3 | c.3052-3A= (n.3052-3A=) c.259-3A= (n.259-3A=) c.2860-3A= (n.2860-3A=) | |
1 | g.209617591G>C | CA2586967984 | LAMB3 | c.3052-5C>G (n.3052-5C>G) c.259-5C>G (n.259-5C>G) c.2860-5C>G (n.2860-5C>G) | |
1 | g.209617592T>C | CA36749618 | LAMB3 | c.3052-6A>G (n.3052-6A>G) c.259-6A>G (n.259-6A>G) c.2860-6A>G (n.2860-6A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617592T= | CA2484295905 | LAMB3 | c.3052-6A= (n.3052-6A=) c.259-6A= (n.259-6A=) c.2860-6A= (n.2860-6A=) | |
1 | g.209617593G>C | CA730846219 | LAMB3 | c.3052-7C>G (n.3052-7C>G) c.259-7C>G (n.259-7C>G) c.2860-7C>G (n.2860-7C>G) | dbSNP |
1 | g.209617593G= | CA2484295906 | LAMB3 | c.3052-7C= (n.3052-7C=) c.259-7C= (n.259-7C=) c.2860-7C= (n.2860-7C=) | |
1 | g.209617594G>A | CA2607036465 | LAMB3 | c.3052-8C>T (n.3052-8C>T) c.259-8C>T (n.259-8C>T) c.2860-8C>T (n.2860-8C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617594G>C | CA730846220 | LAMB3 | c.3052-8C>G (n.3052-8C>G) c.259-8C>G (n.259-8C>G) c.2860-8C>G (n.2860-8C>G) | dbSNP gnomAD v4 |
1 | g.209617594G= | CA2484295907 | LAMB3 | c.3052-8C= (n.3052-8C=) c.259-8C= (n.259-8C=) c.2860-8C= (n.2860-8C=) | |
1 | g.209617594G>T | CA2650320261 | LAMB3 | c.3052-8C>A (n.3052-8C>A) c.259-8C>A (n.259-8C>A) c.2860-8C>A (n.2860-8C>A) | gnomAD v4 |
1 | g.209617595A>C | CA2697554863 | LAMB3 | c.3052-9T>G (n.3052-9T>G) c.259-9T>G (n.259-9T>G) c.2860-9T>G (n.2860-9T>G) | ClinVar |
1 | g.209617596A= | CA2484295908 | LAMB3 | c.3052-10T= (n.3052-10T=) c.259-10T= (n.259-10T=) c.2860-10T= (n.2860-10T=) | |
1 | g.209617596A>G | CA2650320262 | LAMB3 | c.3052-10T>C (n.3052-10T>C) c.259-10T>C (n.259-10T>C) c.2860-10T>C (n.2860-10T>C) | gnomAD v4 |
1 | g.209617596A>T | CA36749619 | LAMB3 | c.3052-10T>A (n.3052-10T>A) c.259-10T>A (n.259-10T>A) c.2860-10T>A (n.2860-10T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617597A= | CA1143619329 | LAMB3 | c.3052-11T= (n.3052-11T=) c.259-11T= (n.259-11T=) c.2860-11T= (n.2860-11T=) | |
1 | g.209617597A>G | CA1374984 | LAMB3 | c.3052-11T>C (n.3052-11T>C) c.259-11T>C (n.259-11T>C) c.2860-11T>C (n.2860-11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617598G>A | CA1374985 | LAMB3 | c.3052-12C>T (n.3052-12C>T) c.259-12C>T (n.259-12C>T) c.2860-12C>T (n.2860-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617598G>C | CA2484295909 | LAMB3 | c.3052-12C>G (n.3052-12C>G) c.259-12C>G (n.259-12C>G) c.2860-12C>G (n.2860-12C>G) | dbSNP |
1 | g.209617598G= | CA1143798437 | LAMB3 | c.3052-12C= (n.3052-12C=) c.259-12C= (n.259-12C=) c.2860-12C= (n.2860-12C=) | |
1 | g.209617599A= | CA2484295910 | LAMB3 | c.3052-13T= (n.3052-13T=) c.259-13T= (n.259-13T=) c.2860-13T= (n.2860-13T=) | |
1 | g.209617599A>C | CA529000155 | LAMB3 | c.3052-13T>G (n.3052-13T>G) c.259-13T>G (n.259-13T>G) c.2860-13T>G (n.2860-13T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617599A>T | CA423029608 | LAMB3 | c.3052-13T>A (n.3052-13T>A) c.259-13T>A (n.259-13T>A) c.2860-13T>A (n.2860-13T>A) | |
1 | g.209617600G>A | CA1374986 | LAMB3 | c.3052-14C>T (n.3052-14C>T) c.259-14C>T (n.259-14C>T) c.2860-14C>T (n.2860-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617600G= | CA2484295911 | LAMB3 | c.3052-14C= (n.3052-14C=) c.259-14C= (n.259-14C=) c.2860-14C= (n.2860-14C=) | |
1 | g.209617600G>T | CA2650320263 | LAMB3 | c.3052-14C>A (n.3052-14C>A) c.259-14C>A (n.259-14C>A) c.2860-14C>A (n.2860-14C>A) | gnomAD v4 |
1 | g.209617601G>A | CA2650320264 | LAMB3 | c.3052-15C>T (n.3052-15C>T) c.259-15C>T (n.259-15C>T) c.2860-15C>T (n.2860-15C>T) | gnomAD v4 |
1 | g.209617603A= | CA2484295912 | LAMB3 | c.3052-17T= (n.3052-17T=) c.259-17T= (n.259-17T=) c.2860-17T= (n.2860-17T=) | |
1 | g.209617603A>C | CA1374987 | LAMB3 | c.3052-17T>G (n.3052-17T>G) c.259-17T>G (n.259-17T>G) c.2860-17T>G (n.2860-17T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617604G>A | CA1374988 | LAMB3 | c.3052-18C>T (n.3052-18C>T) c.259-18C>T (n.259-18C>T) c.2860-18C>T (n.2860-18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.209617604G= | CA2484295913 | LAMB3 | c.3052-18C= (n.3052-18C=) c.259-18C= (n.259-18C=) c.2860-18C= (n.2860-18C=) | |
1 | g.209617606T>G | CA730846253 | LAMB3 | c.3052-20A>C (n.3052-20A>C) c.259-20A>C (n.259-20A>C) c.2860-20A>C (n.2860-20A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617606T= | CA2484295914 | LAMB3 | c.3052-20A= (n.3052-20A=) c.259-20A= (n.259-20A=) c.2860-20A= (n.2860-20A=) | |
1 | g.209617607_209617608del | CA2573997832 | LAMB3 | c.3052-21_3052-20del (n.3052-21_3052-20del) c.259-21_259-20del (n.259-21_259-20del) c.2860-21_2860-20del (n.2860-21_2860-20del) | |
1 | g.209617609G>A | CA2484295916 | LAMB3 | c.3052-23C>T (n.3052-23C>T) c.259-23C>T (n.259-23C>T) c.2860-23C>T (n.2860-23C>T) | dbSNP |
1 | g.209617609G= | CA2484295915 | LAMB3 | c.3052-23C= (n.3052-23C=) c.259-23C= (n.259-23C=) c.2860-23C= (n.2860-23C=) | |
1 | g.209617610G>A | CA2573655847 | LAMB3 | c.3052-24C>T (n.3052-24C>T) c.259-24C>T (n.259-24C>T) c.2860-24C>T (n.2860-24C>T) | |
1 | g.209617611C>A | CA1374989 | LAMB3 | c.3052-25G>T (n.3052-25G>T) c.259-25G>T (n.259-25G>T) c.2860-25G>T (n.2860-25G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617611C= | CA2484295917 | LAMB3 | c.3052-25G= (n.3052-25G=) c.259-25G= (n.259-25G=) c.2860-25G= (n.2860-25G=) | |
1 | g.209617611C>T | CA529000156 | LAMB3 | c.3052-25G>A (n.3052-25G>A) c.259-25G>A (n.259-25G>A) c.2860-25G>A (n.2860-25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617615T>C | CA2650320265 | LAMB3 | c.3052-29A>G (n.3052-29A>G) c.259-29A>G (n.259-29A>G) c.2860-29A>G (n.2860-29A>G) | gnomAD v4 |
1 | g.209617616G>C | CA2650320266 | LAMB3 | c.3052-30C>G (n.3052-30C>G) c.259-30C>G (n.259-30C>G) c.2860-30C>G (n.2860-30C>G) | gnomAD v4 |
1 | g.209617616G= | CA2484295918 | LAMB3 | c.3052-30C= (n.3052-30C=) c.259-30C= (n.259-30C=) c.2860-30C= (n.2860-30C=) | |
1 | g.209617616G>T | CA529000157 | LAMB3 | c.3052-30C>A (n.3052-30C>A) c.259-30C>A (n.259-30C>A) c.2860-30C>A (n.2860-30C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617617T>C | CA1374990 | LAMB3 | c.3052-31A>G (n.3052-31A>G) c.259-31A>G (n.259-31A>G) c.2860-31A>G (n.2860-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617617T= | CA2484295919 | LAMB3 | c.3052-31A= (n.3052-31A=) c.259-31A= (n.259-31A=) c.2860-31A= (n.2860-31A=) | |
1 | g.209617618G>A | CA529000158 | LAMB3 | c.3052-32C>T (n.3052-32C>T) c.259-32C>T (n.259-32C>T) c.2860-32C>T (n.2860-32C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617618G>C | CA529000159 | LAMB3 | c.3052-32C>G (n.3052-32C>G) c.259-32C>G (n.259-32C>G) c.2860-32C>G (n.2860-32C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617618G= | CA2484295920 | LAMB3 | c.3052-32C= (n.3052-32C=) c.259-32C= (n.259-32C=) c.2860-32C= (n.2860-32C=) | |
1 | g.209617619G>A | CA1374991 | LAMB3 | c.3052-33C>T (n.3052-33C>T) c.259-33C>T (n.259-33C>T) c.2860-33C>T (n.2860-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617619G= | CA1147392929 | LAMB3 | c.3052-33C= (n.3052-33C=) c.259-33C= (n.259-33C=) c.2860-33C= (n.2860-33C=) | |
1 | g.209617619G>T | CA36749633 | LAMB3 | c.3052-33C>A (n.3052-33C>A) c.259-33C>A (n.259-33C>A) c.2860-33C>A (n.2860-33C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617620_209617621dup | CA2650320267 | LAMB3 | c.3052-34_3052-33dup (n.3052-34_3052-33dup) c.259-34_259-33dup (n.259-34_259-33dup) c.2860-34_2860-33dup (n.2860-34_2860-33dup) | gnomAD v4 |
1 | g.209617620T>C | CA2484295922 | LAMB3 | c.3052-34A>G (n.3052-34A>G) c.259-34A>G (n.259-34A>G) c.2860-34A>G (n.2860-34A>G) | dbSNP gnomAD v4 |
1 | g.209617620T= | CA2484295921 | LAMB3 | c.3052-34A= (n.3052-34A=) c.259-34A= (n.259-34A=) c.2860-34A= (n.2860-34A=) | |
1 | g.209617621G= | CA2484295923 | LAMB3 | c.3052-35C= (n.3052-35C=) c.259-35C= (n.259-35C=) c.2860-35C= (n.2860-35C=) | |
1 | g.209617621G>T | CA529000160 | LAMB3 | c.3052-35C>A (n.3052-35C>A) c.259-35C>A (n.259-35C>A) c.2860-35C>A (n.2860-35C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617623G>A | CA2650320268 | LAMB3 | c.3052-37C>T (n.3052-37C>T) c.259-37C>T (n.259-37C>T) c.2860-37C>T (n.2860-37C>T) | gnomAD v4 |
1 | g.209617623G>C | CA2650320269 | LAMB3 | c.3052-37C>G (n.3052-37C>G) c.259-37C>G (n.259-37C>G) c.2860-37C>G (n.2860-37C>G) | gnomAD v4 |
1 | g.209617623_209617625delinsGTC | CA2484295924 | LAMB3 | c.3052-39_3052-37delinsGAC (n.3052-39_3052-37delinsGAC) c.259-39_259-37delinsGAC (n.259-39_259-37delinsGAC) c.2860-39_2860-37delinsGAC (n.2860-39_2860-37delinsGAC) | |
1 | g.209617624T>G | CA2484295925 | LAMB3 | c.3052-38A>C (n.3052-38A>C) c.259-38A>C (n.259-38A>C) c.2860-38A>C (n.2860-38A>C) | dbSNP |
1 | g.209617624T= | CA2484295926 | LAMB3 | c.3052-38A= (n.3052-38A=) c.259-38A= (n.259-38A=) c.2860-38A= (n.2860-38A=) | |
1 | g.209617626_209617627del | CA1011766156 | LAMB3 | c.3052-39_3052-38del (n.3052-39_3052-38del) c.259-39_259-38del (n.259-39_259-38del) c.2860-39_2860-38del (n.2860-39_2860-38del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617625C>G | CA2747561732 | LAMB3 | c.3052-39G>C (n.3052-39G>C) c.259-39G>C (n.259-39G>C) c.2860-39G>C (n.2860-39G>C) | |
1 | g.209617627C>G | CA2747561734 | LAMB3 | c.3052-41G>C (n.3052-41G>C) c.259-41G>C (n.259-41G>C) c.2860-41G>C (n.2860-41G>C) | |
1 | g.209617627C>T | CA2573997957 | LAMB3 | c.3052-41G>A (n.3052-41G>A) c.259-41G>A (n.259-41G>A) c.2860-41G>A (n.2860-41G>A) | |
1 | g.209617628A= | CA2484295927 | LAMB3 | c.3052-42T= (n.3052-42T=) c.259-42T= (n.259-42T=) c.2860-42T= (n.2860-42T=) | |
1 | g.209617628A>C | CA2650320270 | LAMB3 | c.3052-42T>G (n.3052-42T>G) c.259-42T>G (n.259-42T>G) c.2860-42T>G (n.2860-42T>G) | gnomAD v4 |
1 | g.209617628A>T | CA529000161 | LAMB3 | c.3052-42T>A (n.3052-42T>A) c.259-42T>A (n.259-42T>A) c.2860-42T>A (n.2860-42T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617628_209617629insAT | CA1011766157 | LAMB3 | c.3052-43_3052-42insAT (n.3052-43_3052-42insAT) c.259-43_259-42insAT (n.259-43_259-42insAT) c.2860-43_2860-42insAT (n.2860-43_2860-42insAT) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617629T>C | CA2650320271 | LAMB3 | c.3052-43A>G (n.3052-43A>G) c.259-43A>G (n.259-43A>G) c.2860-43A>G (n.2860-43A>G) | gnomAD v4 |
1 | g.209617630A= | CA1148883099 | LAMB3 | c.3052-44T= (n.3052-44T=) c.259-44T= (n.259-44T=) c.2860-44T= (n.2860-44T=) | |
1 | g.209617630A>G | CA1374992 | LAMB3 | c.3052-44T>C (n.3052-44T>C) c.259-44T>C (n.259-44T>C) c.2860-44T>C (n.2860-44T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617631G>T | CA2650320272 | LAMB3 | c.3052-45C>A (n.3052-45C>A) c.259-45C>A (n.259-45C>A) c.2860-45C>A (n.2860-45C>A) | gnomAD v4 |
1 | g.209617632G>A | CA1374994 | LAMB3 | c.3052-46C>T (n.3052-46C>T) c.259-46C>T (n.259-46C>T) c.2860-46C>T (n.2860-46C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617632G= | CA1143495822 | LAMB3 | c.3052-46C= (n.3052-46C=) c.259-46C= (n.259-46C=) c.2860-46C= (n.2860-46C=) | |
1 | g.209617632G>T | CA1374993 | LAMB3 | c.3052-46C>A (n.3052-46C>A) c.259-46C>A (n.259-46C>A) c.2860-46C>A (n.2860-46C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617633T>C | CA2650320273 | LAMB3 | c.3052-47A>G (n.3052-47A>G) c.259-47A>G (n.259-47A>G) c.2860-47A>G (n.2860-47A>G) | gnomAD v4 |
1 | g.209617634C>A | CA2650320274 | LAMB3 | c.3052-48G>T (n.3052-48G>T) c.259-48G>T (n.259-48G>T) c.2860-48G>T (n.2860-48G>T) | gnomAD v4 |
1 | g.209617634C= | CA1144052366 | LAMB3 | c.3052-48G= (n.3052-48G=) c.259-48G= (n.259-48G=) c.2860-48G= (n.2860-48G=) | |
1 | g.209617634C>G | CA2697843664 | LAMB3 | c.3052-48G>C (n.3052-48G>C) c.259-48G>C (n.259-48G>C) c.2860-48G>C (n.2860-48G>C) | dbSNP |
1 | g.209617634C>T | CA1374995 | LAMB3 | c.3052-48G>A (n.3052-48G>A) c.259-48G>A (n.259-48G>A) c.2860-48G>A (n.2860-48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617635G>A | CA1374996 | LAMB3 | c.3052-49C>T (n.3052-49C>T) c.259-49C>T (n.259-49C>T) c.2860-49C>T (n.2860-49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617635G= | CA1146254334 | LAMB3 | c.3052-49C= (n.3052-49C=) c.259-49C= (n.259-49C=) c.2860-49C= (n.2860-49C=) | |
1 | g.209617635G>T | CA730846281 | LAMB3 | c.3052-49C>A (n.3052-49C>A) c.259-49C>A (n.259-49C>A) c.2860-49C>A (n.2860-49C>A) | dbSNP gnomAD v4 |
1 | g.209617640dup | CA529000162 | LAMB3 | c.3052-49dup (n.3052-49dup) c.259-49dup (n.259-49dup) c.2860-49dup (n.2860-49dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617640del | CA2573997968 | LAMB3 | c.3052-49del (n.3052-49del) c.259-49del (n.259-49del) c.2860-49del (n.2860-49del) | gnomAD v4 |
1 | g.209617636G>A | CA1374997 | LAMB3 | c.3052-50C>T (n.3052-50C>T) c.259-50C>T (n.259-50C>T) c.2860-50C>T (n.2860-50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617636G>C | CA2650320275 | LAMB3 | c.3052-50C>G (n.3052-50C>G) c.259-50C>G (n.259-50C>G) c.2860-50C>G (n.2860-50C>G) | gnomAD v4 |
1 | g.209617636G= | CA2484295928 | LAMB3 | c.3052-50C= (n.3052-50C=) c.259-50C= (n.259-50C=) c.2860-50C= (n.2860-50C=) | |
1 | g.209617637G>A | CA529000163 | LAMB3 | c.3052-51C>T (n.3052-51C>T) c.259-51C>T (n.259-51C>T) c.2860-51C>T (n.2860-51C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617637G= | CA2484295929 | LAMB3 | c.3052-51C= (n.3052-51C=) c.259-51C= (n.259-51C=) c.2860-51C= (n.2860-51C=) | |
1 | g.209617637G>T | CA2650320276 | LAMB3 | c.3052-51C>A (n.3052-51C>A) c.259-51C>A (n.259-51C>A) c.2860-51C>A (n.2860-51C>A) | gnomAD v4 |
1 | g.209617638G>T | CA2573997985 | LAMB3 | c.3052-52C>A (n.3052-52C>A) c.259-52C>A (n.259-52C>A) c.2860-52C>A (n.2860-52C>A) | |
1 | g.209617639G>A | CA2650320277 | LAMB3 | c.3052-53C>T (n.3052-53C>T) c.259-53C>T (n.259-53C>T) c.2860-53C>T (n.2860-53C>T) | gnomAD v4 |
1 | g.209617639G>C | CA2484295931 | LAMB3 | c.3052-53C>G (n.3052-53C>G) c.259-53C>G (n.259-53C>G) c.2860-53C>G (n.2860-53C>G) | dbSNP gnomAD v4 |
1 | g.209617639G= | CA2484295930 | LAMB3 | c.3052-53C= (n.3052-53C=) c.259-53C= (n.259-53C=) c.2860-53C= (n.2860-53C=) | |
1 | g.209617639G>T | CA2484295932 | LAMB3 | c.3052-53C>A (n.3052-53C>A) c.259-53C>A (n.259-53C>A) c.2860-53C>A (n.2860-53C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617640G>A | CA2573997989 | LAMB3 | c.3052-54C>T (n.3052-54C>T) c.259-54C>T (n.259-54C>T) c.2860-54C>T (n.2860-54C>T) | gnomAD v4 |
1 | g.209617640G>T | CA2650320278 | LAMB3 | c.3052-54C>A (n.3052-54C>A) c.259-54C>A (n.259-54C>A) c.2860-54C>A (n.2860-54C>A) | gnomAD v4 |
1 | g.209617641T>C | CA2650320279 | LAMB3 | c.3052-55A>G (n.3052-55A>G) c.259-55A>G (n.259-55A>G) c.2860-55A>G (n.2860-55A>G) | gnomAD v4 |
1 | g.209617641T>G | CA1011766159 | LAMB3 | c.3052-55A>C (n.3052-55A>C) c.259-55A>C (n.259-55A>C) c.2860-55A>C (n.2860-55A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617641T= | CA2484295933 | LAMB3 | c.3052-55A= (n.3052-55A=) c.259-55A= (n.259-55A=) c.2860-55A= (n.2860-55A=) | |
1 | g.209617643C>A | CA2484295935 | LAMB3 | c.3052-57G>T (n.3052-57G>T) c.259-57G>T (n.259-57G>T) c.2860-57G>T (n.2860-57G>T) | dbSNP gnomAD v4 |
1 | g.209617643C= | CA2484295934 | LAMB3 | c.3052-57G= (n.3052-57G=) c.259-57G= (n.259-57G=) c.2860-57G= (n.2860-57G=) | |
1 | g.209617645T>C | CA36749647 | LAMB3 | c.3052-59A>G (n.3052-59A>G) c.259-59A>G (n.259-59A>G) c.2860-59A>G (n.2860-59A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617645T= | CA2484295936 | LAMB3 | c.3052-59A= (n.3052-59A=) c.259-59A= (n.259-59A=) c.2860-59A= (n.2860-59A=) | |
1 | g.209617646C>T | CA2650320280 | LAMB3 | c.3052-60G>A (n.3052-60G>A) c.259-60G>A (n.259-60G>A) c.2860-60G>A (n.2860-60G>A) | gnomAD v4 |
1 | g.209617646_209617649delinsCCCC | CA1140559106 | LAMB3 | c.3052-63_3052-60delinsGGGG (n.3052-63_3052-60delinsGGGG) c.259-63_259-60delinsGGGG (n.259-63_259-60delinsGGGG) c.2860-63_2860-60delinsGGGG (n.2860-63_2860-60delinsGGGG) | |
1 | g.209617649dup | CA36749651 | LAMB3 | c.3052-60dup (n.3052-60dup) c.259-60dup (n.259-60dup) c.2860-60dup (n.2860-60dup) | dbSNP |
1 | g.209617649del | CA2573998005 | LAMB3 | c.3052-60del (n.3052-60del) c.259-60del (n.259-60del) c.2860-60del (n.2860-60del) |