Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.104037721_104037738dup | CA2610800485 | COL17A1 | c.2982_2999dup (p.Gly1000_Pro1001insProProGlyProProGly) c.3117_3134dup (p.Gly1045_Pro1046insProProGlyProProGly) | gnomAD v4 |
10 | g.104037721_104037738del | CA212458572 | COL17A1 | c.2982_2999del (p.Pro995_Gly1000del) c.3117_3134del (p.Pro1040_Gly1045del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037737C>A | CA378067279 | COL17A1 | c.2972G>T (p.Gly991Val) c.3107G>T (p.Gly1036Val) | gnomAD v4 |
10 | g.104037737C>G | CA378067280 | COL17A1 | c.2972G>C (p.Gly991Ala) c.3107G>C (p.Gly1036Ala) | |
10 | g.104037737C>T | CA378067281 | COL17A1 | c.2972G>A (p.Gly991Asp) c.3107G>A (p.Gly1036Asp) | |
10 | g.104037738C>A | CA378067282 | COL17A1 | c.2971G>T (p.Gly991Cys) c.3106G>T (p.Gly1036Cys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104037738C= | CA1933420792 | COL17A1 | c.2971G= (p.Gly991=) c.3106G= (p.Gly1036=) | |
10 | g.104037738C>G | CA378067284 | COL17A1 | c.2971G>C (p.Gly991Arg) c.3106G>C (p.Gly1036Arg) | dbSNP gnomAD v4 |
10 | g.104037738C>T | CA378067283 | COL17A1 | c.2971G>A (p.Gly991Ser) c.3106G>A (p.Gly1036Ser) | dbSNP |
10 | g.104037739C>A | CA378067285 | COL17A1 | c.2970G>T (p.Gln990His) c.3105G>T (p.Gln1035His) | |
10 | g.104037739C>G | CA378067286 | COL17A1 | c.2970G>C (p.Gln990His) c.3105G>C (p.Gln1035His) | |
10 | g.104037739C>T | CA471344026 | COL17A1 | c.2970G>A (p.Gln990=) c.3105G>A (p.Gln1035=) | |
10 | g.104037740T>A | CA378067287 | COL17A1 | c.2969A>T (p.Gln990Leu) c.3104A>T (p.Gln1035Leu) | gnomAD v4 |
10 | g.104037740T>C | CA378067288 | COL17A1 | c.2969A>G (p.Gln990Arg) c.3104A>G (p.Gln1035Arg) | dbSNP |
10 | g.104037740T>G | CA378067289 | COL17A1 | c.2969A>C (p.Gln990Pro) c.3104A>C (p.Gln1035Pro) | |
10 | g.104037740T= | CA1933420793 | COL17A1 | c.2969A= (p.Gln990=) c.3104A= (p.Gln1035=) | |
10 | g.104037741G>A | CA378067290 | COL17A1 | c.2968C>T (p.Gln990Ter) c.3103C>T (p.Gln1035Ter) | |
10 | g.104037741G>C | CA378067291 | COL17A1 | c.2968C>G (p.Gln990Glu) c.3103C>G (p.Gln1035Glu) | |
10 | g.104037741G>T | CA378067292 | COL17A1 | c.2968C>A (p.Gln990Lys) c.3103C>A (p.Gln1035Lys) | |
10 | g.104037742A>C | CA471344039 | COL17A1 | c.2967T>G (p.Val989=) c.3102T>G (p.Val1034=) | |
10 | g.104037742A>G | CA471344041 | COL17A1 | c.2967T>C (p.Val989=) c.3102T>C (p.Val1034=) | |
10 | g.104037742A>T | CA471344043 | COL17A1 | c.2967T>A (p.Val989=) c.3102T>A (p.Val1034=) | |
10 | g.104037743A>C | CA378067293 | COL17A1 | c.2966T>G (p.Val989Gly) c.3101T>G (p.Val1034Gly) | |
10 | g.104037743A>G | CA378067294 | COL17A1 | c.2966T>C (p.Val989Ala) c.3101T>C (p.Val1034Ala) | |
10 | g.104037743A>T | CA378067295 | COL17A1 | c.2966T>A (p.Val989Asp) c.3101T>A (p.Val1034Asp) | |
10 | g.104037744C>A | CA378067296 | COL17A1 | c.2965G>T (p.Val989Phe) c.3100G>T (p.Val1034Phe) | |
10 | g.104037744C= | CA1933420794 | COL17A1 | c.2965G= (p.Val989=) c.3100G= (p.Val1034=) | |
10 | g.104037744C>G | CA378067297 | COL17A1 | c.2965G>C (p.Val989Leu) c.3100G>C (p.Val1034Leu) | |
10 | g.104037744C>T | CA5678089 | COL17A1 | c.2965G>A (p.Val989Ile) c.3100G>A (p.Val1034Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037745T>A | CA471344061 | COL17A1 | c.2964A>T (p.Gly988=) c.3099A>T (p.Gly1033=) | |
10 | g.104037745T>C | CA471344056 | COL17A1 | c.2964A>G (p.Gly988=) c.3099A>G (p.Gly1033=) | |
10 | g.104037745T>G | CA471344057 | COL17A1 | c.2964A>C (p.Gly988=) c.3099A>C (p.Gly1033=) | |
10 | g.104037746C>A | CA378067298 | COL17A1 | c.2963G>T (p.Gly988Val) c.3098G>T (p.Gly1033Val) | |
10 | g.104037746C= | CA1933420795 | COL17A1 | c.2963G= (p.Gly988=) c.3098G= (p.Gly1033=) | |
10 | g.104037746C>G | CA378067299 | COL17A1 | c.2963G>C (p.Gly988Ala) c.3098G>C (p.Gly1033Ala) | |
10 | g.104037746C>T | CA378067300 | COL17A1 | c.2963G>A (p.Gly988Glu) c.3098G>A (p.Gly1033Glu) | dbSNP gnomAD v2 COSMIC |
10 | g.104037747C>A | CA378067301 | COL17A1 | c.2962G>T (p.Gly988Ter) c.3097G>T (p.Gly1033Ter) | |
10 | g.104037747C= | CA1933389552 | COL17A1 | c.2962G= (p.Gly988=) c.3097G= (p.Gly1033=) | |
10 | g.104037747C>G | CA378067302 | COL17A1 | c.2962G>C (p.Gly988Arg) c.3097G>C (p.Gly1033Arg) | gnomAD v4 |
10 | g.104037747C>T | CA5678090 | COL17A1 | c.2962G>A (p.Gly988Arg) c.3097G>A (p.Gly1033Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.104037748G>A | CA5678091 | COL17A1 | c.2961C>T (p.Ser987=) c.3096C>T (p.Ser1032=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037748G>C | CA471344075 | COL17A1 | c.2961C>G (p.Ser987=) c.3096C>G (p.Ser1032=) | |
10 | g.104037748G= | CA1933389553 | COL17A1 | c.2961C= (p.Ser987=) c.3096C= (p.Ser1032=) | |
10 | g.104037748G>T | CA471344078 | COL17A1 | c.2961C>A (p.Ser987=) c.3096C>A (p.Ser1032=) | |
10 | g.104037749G>A | CA378067303 | COL17A1 | c.2960C>T (p.Ser987Phe) c.3095C>T (p.Ser1032Phe) | |
10 | g.104037749G>C | CA378067304 | COL17A1 | c.2960C>G (p.Ser987Cys) c.3095C>G (p.Ser1032Cys) | |
10 | g.104037749G>T | CA378067305 | COL17A1 | c.2960C>A (p.Ser987Tyr) c.3095C>A (p.Ser1032Tyr) | gnomAD v4 |
10 | g.104037750A>C | CA378067306 | COL17A1 | c.2959T>G (p.Ser987Ala) c.3094T>G (p.Ser1032Ala) | |
10 | g.104037750A>G | CA378067307 | COL17A1 | c.2959T>C (p.Ser987Pro) c.3094T>C (p.Ser1032Pro) | |
10 | g.104037750A>T | CA378067308 | COL17A1 | c.2959T>A (p.Ser987Thr) c.3094T>A (p.Ser1032Thr) | |
10 | g.104037751T>A | CA471344090 | COL17A1 | c.2958A>T (p.Leu986=) c.3093A>T (p.Leu1031=) | |
10 | g.104037751T>C | CA471344099 | COL17A1 | c.2958A>G (p.Leu986=) c.3093A>G (p.Leu1031=) | |
10 | g.104037751T>G | CA471344097 | COL17A1 | c.2958A>C (p.Leu986=) c.3093A>C (p.Leu1031=) | |
10 | g.104037752A>C | CA378067309 | COL17A1 | c.2957T>G (p.Leu986Arg) c.3092T>G (p.Leu1031Arg) | |
10 | g.104037752A>G | CA378067311 | COL17A1 | c.2957T>C (p.Leu986Pro) c.3092T>C (p.Leu1031Pro) | gnomAD v4 |
10 | g.104037752A>T | CA378067310 | COL17A1 | c.2957T>A (p.Leu986Gln) c.3092T>A (p.Leu1031Gln) | |
10 | g.104037753G>A | CA471344108 | COL17A1 | c.2956C>T (p.Leu986=) c.3091C>T (p.Leu1031=) | |
10 | g.104037753G>C | CA5678092 | COL17A1 | c.2956C>G (p.Leu986Val) c.3091C>G (p.Leu1031Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037753G= | CA1933389554 | COL17A1 | c.2956C= (p.Leu986=) c.3091C= (p.Leu1031=) | |
10 | g.104037753G>T | CA378067312 | COL17A1 | c.2956C>A (p.Leu986Ile) c.3091C>A (p.Leu1031Ile) | |
10 | g.104037754G>A | CA471344113 | COL17A1 | c.2955C>T (p.Tyr985=) c.3090C>T (p.Tyr1030=) | gnomAD v4 |
10 | g.104037754G>C | CA378067313 | COL17A1 | c.2955C>G (p.Tyr985Ter) c.3090C>G (p.Tyr1030Ter) | |
10 | g.104037754G>T | CA378067314 | COL17A1 | c.2955C>A (p.Tyr985Ter) c.3090C>A (p.Tyr1030Ter) | |
10 | g.104037755T>A | CA5678093 | COL17A1 | c.2954A>T (p.Tyr985Phe) c.3089A>T (p.Tyr1030Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104037755T>C | CA378067315 | COL17A1 | c.2954A>G (p.Tyr985Cys) c.3089A>G (p.Tyr1030Cys) | |
10 | g.104037755T>G | CA378067316 | COL17A1 | c.2954A>C (p.Tyr985Ser) c.3089A>C (p.Tyr1030Ser) | |
10 | g.104037755T= | CA1933389555 | COL17A1 | c.2954A= (p.Tyr985=) c.3089A= (p.Tyr1030=) | |
10 | g.104037756A= | CA1933389556 | COL17A1 | c.2953T= (p.Tyr985=) c.3088T= (p.Tyr1030=) | |
10 | g.104037756A>C | CA378067317 | COL17A1 | c.2953T>G (p.Tyr985Asp) c.3088T>G (p.Tyr1030Asp) | |
10 | g.104037756A>G | CA378067318 | COL17A1 | c.2953T>C (p.Tyr985His) c.3088T>C (p.Tyr1030His) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104037756A>T | CA378067319 | COL17A1 | c.2953T>A (p.Tyr985Asn) c.3088T>A (p.Tyr1030Asn) | |
10 | g.104037757A= | CA1933389557 | COL17A1 | c.2952T= (p.Ser984=) c.3087T= (p.Ser1029=) | |
10 | g.104037757A>C | CA5678094 | COL17A1 | c.2952T>G (p.Ser984=) c.3087T>G (p.Ser1029=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037757A>G | CA471344131 | COL17A1 | c.2952T>C (p.Ser984=) c.3087T>C (p.Ser1029=) | |
10 | g.104037757A>T | CA471344129 | COL17A1 | c.2952T>A (p.Ser984=) c.3087T>A (p.Ser1029=) | |
10 | g.104037758G>A | CA378067321 | COL17A1 | c.2951C>T (p.Ser984Phe) c.3086C>T (p.Ser1029Phe) | |
10 | g.104037758G>C | CA378067322 | COL17A1 | c.2951C>G (p.Ser984Cys) c.3086C>G (p.Ser1029Cys) | |
10 | g.104037758G>T | CA378067320 | COL17A1 | c.2951C>A (p.Ser984Tyr) c.3086C>A (p.Ser1029Tyr) | |
10 | g.104037759A= | CA1933389558 | COL17A1 | c.2950T= (p.Ser984=) c.3085T= (p.Ser1029=) | |
10 | g.104037759A>C | CA5678095 | COL17A1 | c.2950T>G (p.Ser984Ala) c.3085T>G (p.Ser1029Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037759A>G | CA378067323 | COL17A1 | c.2950T>C (p.Ser984Pro) c.3085T>C (p.Ser1029Pro) | |
10 | g.104037759A>T | CA378067324 | COL17A1 | c.2950T>A (p.Ser984Thr) c.3085T>A (p.Ser1029Thr) | |
10 | g.104037760T>A | CA378067325 | COL17A1 | c.2949A>T (p.Arg983Ser) c.3084A>T (p.Arg1028Ser) | dbSNP |
10 | g.104037760T>C | CA471344144 | COL17A1 | c.2949A>G (p.Arg983=) c.3084A>G (p.Arg1028=) | |
10 | g.104037760T>G | CA378067326 | COL17A1 | c.2949A>C (p.Arg983Ser) c.3084A>C (p.Arg1028Ser) | |
10 | g.104037760T= | CA1933389559 | COL17A1 | c.2949A= (p.Arg983=) c.3084A= (p.Arg1028=) | |
10 | g.104037761C>A | CA378067327 | COL17A1 | c.2948G>T (p.Arg983Ile) c.3083G>T (p.Arg1028Ile) | |
10 | g.104037761C>G | CA378067328 | COL17A1 | c.2948G>C (p.Arg983Thr) c.3083G>C (p.Arg1028Thr) | COSMIC |
10 | g.104037761C>T | CA378067329 | COL17A1 | c.2948G>A (p.Arg983Lys) c.3083G>A (p.Arg1028Lys) | |
10 | g.104037762T>A | CA378067330 | COL17A1 | c.2947A>T (p.Arg983Ter) c.3082A>T (p.Arg1028Ter) | |
10 | g.104037762T>C | CA378067331 | COL17A1 | c.2947A>G (p.Arg983Gly) c.3082A>G (p.Arg1028Gly) | |
10 | g.104037762T>G | CA471344150 | COL17A1 | c.2947A>C (p.Arg983=) c.3082A>C (p.Arg1028=) | |
10 | g.104037763A>C | CA378067332 | COL17A1 | c.2946T>G (p.Ile982Met) c.3081T>G (p.Ile1027Met) | |
10 | g.104037763A>G | CA471344154 | COL17A1 | c.2946T>C (p.Ile982=) c.3081T>C (p.Ile1027=) | |
10 | g.104037763A>T | CA471344155 | COL17A1 | c.2946T>A (p.Ile982=) c.3081T>A (p.Ile1027=) | |
10 | g.104037764A>C | CA378067333 | COL17A1 | c.2945T>G (p.Ile982Ser) c.3080T>G (p.Ile1027Ser) | |
10 | g.104037764A>G | CA378067334 | COL17A1 | c.2945T>C (p.Ile982Thr) c.3080T>C (p.Ile1027Thr) | gnomAD v4 |
10 | g.104037764A>T | CA378067335 | COL17A1 | c.2945T>A (p.Ile982Asn) c.3080T>A (p.Ile1027Asn) | |
10 | g.104037765T>A | CA378067336 | COL17A1 | c.2944A>T (p.Ile982Phe) c.3079A>T (p.Ile1027Phe) | |
10 | g.104037765T>C | CA378067337 | COL17A1 | c.2944A>G (p.Ile982Val) c.3079A>G (p.Ile1027Val) | dbSNP gnomAD v4 |
10 | g.104037765T>G | CA378067338 | COL17A1 | c.2944A>C (p.Ile982Leu) c.3079A>C (p.Ile1027Leu) | |
10 | g.104037765T= | CA1933389560 | COL17A1 | c.2944A= (p.Ile982=) c.3079A= (p.Ile1027=) | |
10 | g.104037766A= | CA1933389561 | COL17A1 | c.2943T= (p.Ser981=) c.3078T= (p.Ser1026=) | |
10 | g.104037766A>C | CA378067340 | COL17A1 | c.2943T>G (p.Ser981Arg) c.3078T>G (p.Ser1026Arg) | |
10 | g.104037766A>G | CA5678096 | COL17A1 | c.2943T>C (p.Ser981=) c.3078T>C (p.Ser1026=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037766A>T | CA378067339 | COL17A1 | c.2943T>A (p.Ser981Arg) c.3078T>A (p.Ser1026Arg) | |
10 | g.104037767C>A | CA378067341 | COL17A1 | c.2942G>T (p.Ser981Ile) c.3077G>T (p.Ser1026Ile) | |
10 | g.104037767C>G | CA378067342 | COL17A1 | c.2942G>C (p.Ser981Thr) c.3077G>C (p.Ser1026Thr) | |
10 | g.104037767C>T | CA378067343 | COL17A1 | c.2942G>A (p.Ser981Asn) c.3077G>A (p.Ser1026Asn) | |
10 | g.104037767dup | CA2610800717 | COL17A1 | c.2942dup (p.Ser981ArgfsTer3) c.3077dup (p.Ser1026ArgfsTer3) | gnomAD v4 |
10 | g.104037768T>A | CA378067344 | COL17A1 | c.2941A>T (p.Ser981Cys) c.3076A>T (p.Ser1026Cys) | |
10 | g.104037768T>C | CA5678097 | COL17A1 | c.2941A>G (p.Ser981Gly) c.3076A>G (p.Ser1026Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037768T>G | CA378067345 | COL17A1 | c.2941A>C (p.Ser981Arg) c.3076A>C (p.Ser1026Arg) | |
10 | g.104037768T= | CA1933389562 | COL17A1 | c.2941A= (p.Ser981=) c.3076A= (p.Ser1026=) | |
10 | g.104037769G>A | CA471344180 | COL17A1 | c.2940C>T (p.Asp980=) c.3075C>T (p.Asp1025=) | |
10 | g.104037769G>C | CA378067346 | COL17A1 | c.2940C>G (p.Asp980Glu) c.3075C>G (p.Asp1025Glu) | |
10 | g.104037769G>T | CA378067347 | COL17A1 | c.2940C>A (p.Asp980Glu) c.3075C>A (p.Asp1025Glu) | |
10 | g.104037770T>A | CA378067348 | COL17A1 | c.2939A>T (p.Asp980Val) c.3074A>T (p.Asp1025Val) | |
10 | g.104037770T>C | CA378067349 | COL17A1 | c.2939A>G (p.Asp980Gly) c.3074A>G (p.Asp1025Gly) | |
10 | g.104037770T>G | CA378067350 | COL17A1 | c.2939A>C (p.Asp980Ala) c.3074A>C (p.Asp1025Ala) | |
10 | g.104037771C>A | CA378067352 | COL17A1 | c.2938G>T (p.Asp980Tyr) c.3073G>T (p.Asp1025Tyr) | |
10 | g.104037771C>G | CA378067353 | COL17A1 | c.2938G>C (p.Asp980His) c.3073G>C (p.Asp1025His) | |
10 | g.104037771C>T | CA378067351 | COL17A1 | c.2938G>A (p.Asp980Asn) c.3073G>A (p.Asp1025Asn) | |
10 | g.104037772A= | CA1933389563 | COL17A1 | c.2937T= (p.Ser979=) c.3072T= (p.Ser1024=) | |
10 | g.104037772A>C | CA378067354 | COL17A1 | c.2937T>G (p.Ser979Arg) c.3072T>G (p.Ser1024Arg) | dbSNP |
10 | g.104037772A>G | CA471344194 | COL17A1 | c.2937T>C (p.Ser979=) c.3072T>C (p.Ser1024=) | |
10 | g.104037772A>T | CA378067355 | COL17A1 | c.2937T>A (p.Ser979Arg) c.3072T>A (p.Ser1024Arg) | |
10 | g.104037773C>A | CA378067356 | COL17A1 | c.2936G>T (p.Ser979Ile) c.3071G>T (p.Ser1024Ile) | |
10 | g.104037773C>G | CA378067357 | COL17A1 | c.2936G>C (p.Ser979Thr) c.3071G>C (p.Ser1024Thr) | |
10 | g.104037773C>T | CA378067358 | COL17A1 | c.2936G>A (p.Ser979Asn) c.3071G>A (p.Ser1024Asn) | gnomAD v4 |
10 | g.104037774C>A | CA378067359 | COL17A1 | c.2936-1G>T (n.2936-1G>T) c.3071-1G>T (n.3071-1G>T) | |
10 | g.104037774C= | CA1933389564 | COL17A1 | c.2936-1G= (n.2936-1G=) c.3071-1G= (n.3071-1G=) | |
10 | g.104037774C>G | CA378067360 | COL17A1 | c.2936-1G>C (n.2936-1G>C) c.3071-1G>C (n.3071-1G>C) | |
10 | g.104037774C>T | CA378067361 | COL17A1 | c.2936-1G>A (n.2936-1G>A) c.3071-1G>A (n.3071-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104037775T>A | CA378067362 | COL17A1 | c.2936-2A>T (n.2936-2A>T) c.3071-2A>T (n.3071-2A>T) | |
10 | g.104037775T>C | CA378067363 | COL17A1 | c.2936-2A>G (n.2936-2A>G) c.3071-2A>G (n.3071-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104037775T>G | CA378067364 | COL17A1 | c.2936-2A>C (n.2936-2A>C) c.3071-2A>C (n.3071-2A>C) | |
10 | g.104037775T= | CA1933389565 | COL17A1 | c.2936-2A= (n.2936-2A=) c.3071-2A= (n.3071-2A=) | |
10 | g.104037776G= | CA1933389566 | COL17A1 | c.2936-3C= (n.2936-3C=) c.3071-3C= (n.3071-3C=) | |
10 | g.104037776G>T | CA595673865 | COL17A1 | c.2936-3C>A (n.2936-3C>A) c.3071-3C>A (n.3071-3C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104037778C= | CA1933389567 | COL17A1 | c.2936-5G= (n.2936-5G=) c.3071-5G= (n.3071-5G=) | |
10 | g.104037778C>T | CA5678098 | COL17A1 | c.2936-5G>A (n.2936-5G>A) c.3071-5G>A (n.3071-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037779G>A | CA5678099 | COL17A1 | c.2936-6C>T (n.2936-6C>T) c.3071-6C>T (n.3071-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037779G>C | CA932069996 | COL17A1 | c.2936-6C>G (n.2936-6C>G) c.3071-6C>G (n.3071-6C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104037779G= | CA1933389568 | COL17A1 | c.2936-6C= (n.2936-6C=) c.3071-6C= (n.3071-6C=) | |
10 | g.104037779G>T | CA2610800752 | COL17A1 | c.2936-6C>A (n.2936-6C>A) c.3071-6C>A (n.3071-6C>A) | gnomAD v4 |
10 | g.104037780A= | CA1933389569 | COL17A1 | c.2936-7T= (n.2936-7T=) c.3071-7T= (n.3071-7T=) | |
10 | g.104037780A>G | CA595673866 | COL17A1 | c.2936-7T>C (n.2936-7T>C) c.3071-7T>C (n.3071-7T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104037781C>A | CA1933389571 | COL17A1 | c.2936-8G>T (n.2936-8G>T) c.3071-8G>T (n.3071-8G>T) | dbSNP |
10 | g.104037781C= | CA1933389570 | COL17A1 | c.2936-8G= (n.2936-8G=) c.3071-8G= (n.3071-8G=) | |
10 | g.104037781C>T | CA5678100 | COL17A1 | c.2936-8G>A (n.2936-8G>A) c.3071-8G>A (n.3071-8G>A) | dbSNP ExAC gnomAD v2 |
10 | g.104037782C= | CA1933389572 | COL17A1 | c.2936-9G= (n.2936-9G=) c.3071-9G= (n.3071-9G=) | |
10 | g.104037782C>G | CA5678101 | COL17A1 | c.2936-9G>C (n.2936-9G>C) c.3071-9G>C (n.3071-9G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104037783A>C | CA2610800763 | COL17A1 | c.2936-10T>G (n.2936-10T>G) c.3071-10T>G (n.3071-10T>G) | gnomAD v4 |
10 | g.104037784A>C | CA2739276026 | COL17A1 | c.2936-11T>G (n.2936-11T>G) c.3071-11T>G (n.3071-11T>G) | ClinVar |
10 | g.104037785G>A | CA212458641 | COL17A1 | c.2936-12C>T (n.2936-12C>T) c.3071-12C>T (n.3071-12C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.104037785G= | CA1933389573 | COL17A1 | c.2936-12C= (n.2936-12C=) c.3071-12C= (n.3071-12C=) | |
10 | g.104037788A= | CA1933389574 | COL17A1 | c.2936-15T= (n.2936-15T=) c.3071-15T= (n.3071-15T=) | |
10 | g.104037788A>C | CA5678103 | COL17A1 | c.2936-15T>G (n.2936-15T>G) c.3071-15T>G (n.3071-15T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104037788A>G | CA2610800772 | COL17A1 | c.2936-15T>C (n.2936-15T>C) c.3071-15T>C (n.3071-15T>C) | gnomAD v4 |
10 | g.104037788_104037793delinsACAAAG | CA1933389575 | COL17A1 | c.2936-20_2936-15delinsCTTTGT (n.2936-20_2936-15delinsCTTTGT) c.3071-20_3071-15delinsCTTTGT (n.3071-20_3071-15delinsCTTTGT) | |
10 | g.104037789C>A | CA5678104 | COL17A1 | c.2936-16G>T (n.2936-16G>T) c.3071-16G>T (n.3071-16G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037789C= | CA1933389576 | COL17A1 | c.2936-16G= (n.2936-16G=) c.3071-16G= (n.3071-16G=) | |
10 | g.104037794_104037798del | CA5678102 | COL17A1 | c.2936-20_2936-16del (n.2936-20_2936-16del) c.3071-20_3071-16del (n.3071-20_3071-16del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037793G>A | CA659182320 | COL17A1 | c.2936-20C>T (n.2936-20C>T) c.3071-20C>T (n.3071-20C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104037793G= | CA1933389577 | COL17A1 | c.2936-20C= (n.2936-20C=) c.3071-20C= (n.3071-20C=) | |
10 | g.104037796_104037797del | CA2610800784 | COL17A1 | c.2936-23_2936-22del (n.2936-23_2936-22del) c.3071-23_3071-22del (n.3071-23_3071-22del) | gnomAD v4 |
10 | g.104037797A= | CA1933389578 | COL17A1 | c.2936-24T= (n.2936-24T=) c.3071-24T= (n.3071-24T=) | |
10 | g.104037797A>G | CA659182323 | COL17A1 | c.2936-24T>C (n.2936-24T>C) c.3071-24T>C (n.3071-24T>C) | dbSNP gnomAD v4 |
10 | g.104037798G>C | CA5678105 | COL17A1 | c.2936-25C>G (n.2936-25C>G) c.3071-25C>G (n.3071-25C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037798G= | CA1933389579 | COL17A1 | c.2936-25C= (n.2936-25C=) c.3071-25C= (n.3071-25C=) | |
10 | g.104037799T>A | CA1933389581 | COL17A1 | c.2936-26A>T (n.2936-26A>T) c.3071-26A>T (n.3071-26A>T) | dbSNP |
10 | g.104037799T= | CA1933389580 | COL17A1 | c.2936-26A= (n.2936-26A=) c.3071-26A= (n.3071-26A=) | |
10 | g.104037803G>A | CA595673870 | COL17A1 | c.2936-30C>T (n.2936-30C>T) c.3071-30C>T (n.3071-30C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104037803G>C | CA1933389582 | COL17A1 | c.2936-30C>G (n.2936-30C>G) c.3071-30C>G (n.3071-30C>G) | dbSNP |
10 | g.104037803G= | CA1933389583 | COL17A1 | c.2936-30C= (n.2936-30C=) c.3071-30C= (n.3071-30C=) | |
10 | g.104037804C>A | CA659182328 | COL17A1 | c.2936-31G>T (n.2936-31G>T) c.3071-31G>T (n.3071-31G>T) | dbSNP |
10 | g.104037804C= | CA1933389584 | COL17A1 | c.2936-31G= (n.2936-31G=) c.3071-31G= (n.3071-31G=) | |
10 | g.104037805C>A | CA2610800800 | COL17A1 | c.2936-32G>T (n.2936-32G>T) c.3071-32G>T (n.3071-32G>T) | gnomAD v4 |
10 | g.104037805C= | CA1933389585 | COL17A1 | c.2936-32G= (n.2936-32G=) c.3071-32G= (n.3071-32G=) | |
10 | g.104037805C>T | CA1933389586 | COL17A1 | c.2936-32G>A (n.2936-32G>A) c.3071-32G>A (n.3071-32G>A) | dbSNP |
10 | g.104037806T>C | CA2610800804 | COL17A1 | c.2936-33A>G (n.2936-33A>G) c.3071-33A>G (n.3071-33A>G) | gnomAD v4 |
10 | g.104037807G= | CA1933389587 | COL17A1 | c.2936-34C= (n.2936-34C=) c.3071-34C= (n.3071-34C=) | |
10 | g.104037807G>T | CA595673871 | COL17A1 | c.2936-34C>A (n.2936-34C>A) c.3071-34C>A (n.3071-34C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104037809C>A | CA2531221729 | COL17A1 | c.2936-36G>T (n.2936-36G>T) c.3071-36G>T (n.3071-36G>T) | |
10 | g.104037810C>T | CA2610800807 | COL17A1 | c.2936-37G>A (n.2936-37G>A) c.3071-37G>A (n.3071-37G>A) | gnomAD v4 |
10 | g.104037811C>A | CA5678106 | COL17A1 | c.2936-38G>T (n.2936-38G>T) c.3071-38G>T (n.3071-38G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037811C= | CA1933389588 | COL17A1 | c.2936-38G= (n.2936-38G=) c.3071-38G= (n.3071-38G=) | |
10 | g.104037813A= | CA1933389589 | COL17A1 | c.2936-40T= (n.2936-40T=) c.3071-40T= (n.3071-40T=) | |
10 | g.104037813A>G | CA5678107 | COL17A1 | c.2936-40T>C (n.2936-40T>C) c.3071-40T>C (n.3071-40T>C) | dbSNP ExAC gnomAD v2 |
10 | g.104037814G>A | CA1933389591 | COL17A1 | c.2936-41C>T (n.2936-41C>T) c.3071-41C>T (n.3071-41C>T) | dbSNP |
10 | g.104037814G>C | CA5678108 | COL17A1 | c.2936-41C>G (n.2936-41C>G) c.3071-41C>G (n.3071-41C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104037814G= | CA1933389590 | COL17A1 | c.2936-41C= (n.2936-41C=) c.3071-41C= (n.3071-41C=) | |
10 | g.104037815A>C | CA2610800819 | COL17A1 | c.2936-42T>G (n.2936-42T>G) c.3071-42T>G (n.3071-42T>G) | gnomAD v4 |
10 | g.104037815A>G | CA2610800816 | COL17A1 | c.2936-42T>C (n.2936-42T>C) c.3071-42T>C (n.3071-42T>C) | gnomAD v4 |
10 | g.104037816G>A | CA5678110 | COL17A1 | c.2936-43C>T (n.2936-43C>T) c.3071-43C>T (n.3071-43C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104037816G>C | CA5678109 | COL17A1 | c.2936-43C>G (n.2936-43C>G) c.3071-43C>G (n.3071-43C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104037816G= | CA1933389592 | COL17A1 | c.2936-43C= (n.2936-43C=) c.3071-43C= (n.3071-43C=) | |
10 | g.104037817G>A | CA595673876 | COL17A1 | c.2936-44C>T (n.2936-44C>T) c.3071-44C>T (n.3071-44C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104037817G= | CA1933389593 | COL17A1 | c.2936-44C= (n.2936-44C=) c.3071-44C= (n.3071-44C=) | |
10 | g.104037819C= | CA1933389595 | COL17A1 | c.2936-46G= (n.2936-46G=) c.3071-46G= (n.3071-46G=) | |
10 | g.104037819C>T | CA1933389594 | COL17A1 | c.2936-46G>A (n.2936-46G>A) c.3071-46G>A (n.3071-46G>A) | dbSNP |
10 | g.104037820A= | CA1933389596 | COL17A1 | c.2936-47T= (n.2936-47T=) c.3071-47T= (n.3071-47T=) | |
10 | g.104037820A>G | CA5678111 | COL17A1 | c.2936-47T>C (n.2936-47T>C) c.3071-47T>C (n.3071-47T>C) | dbSNP ExAC gnomAD v4 |
10 | g.104037821T>C | CA212458679 | COL17A1 | c.2936-48A>G (n.2936-48A>G) c.3071-48A>G (n.3071-48A>G) | dbSNP |
10 | g.104037821T>G | CA932070009 | COL17A1 | c.2936-48A>C (n.2936-48A>C) c.3071-48A>C (n.3071-48A>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104037821T= | CA1933389597 | COL17A1 | c.2936-48A= (n.2936-48A=) c.3071-48A= (n.3071-48A=) | |
10 | g.104037822G>A | CA2610800826 | COL17A1 | c.2936-49C>T (n.2936-49C>T) c.3071-49C>T (n.3071-49C>T) | gnomAD v4 |
10 | g.104037825C>A | CA5678112 | COL17A1 | c.2936-52G>T (n.2936-52G>T) c.3071-52G>T (n.3071-52G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104037825C= | CA1933389598 | COL17A1 | c.2936-52G= (n.2936-52G=) c.3071-52G= (n.3071-52G=) | |
10 | g.104037827C>A | CA2610800832 | COL17A1 | c.2936-54G>T (n.2936-54G>T) c.3071-54G>T (n.3071-54G>T) | gnomAD v4 |
10 | g.104037827C>T | CA2610800835 | COL17A1 | c.2936-54G>A (n.2936-54G>A) c.3071-54G>A (n.3071-54G>A) | dbSNP gnomAD v4 |
10 | g.104037828C>A | CA2610800838 | COL17A1 | c.2936-55G>T (n.2936-55G>T) c.3071-55G>T (n.3071-55G>T) | gnomAD v4 |
10 | g.104037828C= | CA1933389599 | COL17A1 | c.2936-55G= (n.2936-55G=) c.3071-55G= (n.3071-55G=) | |
10 | g.104037828C>G | CA212458684 | COL17A1 | c.2936-55G>C (n.2936-55G>C) c.3071-55G>C (n.3071-55G>C) | dbSNP gnomAD v4 |
10 | g.104037828C>T | CA2574660978 | COL17A1 | c.2936-55G>A (n.2936-55G>A) c.3071-55G>A (n.3071-55G>A) | |
10 | g.104037829C>A | CA2610800839 | COL17A1 | c.2936-56G>T (n.2936-56G>T) c.3071-56G>T (n.3071-56G>T) | gnomAD v4 |
10 | g.104037829C= | CA1933389600 | COL17A1 | c.2936-56G= (n.2936-56G=) c.3071-56G= (n.3071-56G=) | |
10 | g.104037829C>T | CA659182344 | COL17A1 | c.2936-56G>A (n.2936-56G>A) c.3071-56G>A (n.3071-56G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104037830C>A | CA2574660979 | COL17A1 | c.2936-57G>T (n.2936-57G>T) c.3071-57G>T (n.3071-57G>T) | gnomAD v4 |
10 | g.104037830C>T | CA2722596963 | COL17A1 | c.2936-57G>A (n.2936-57G>A) c.3071-57G>A (n.3071-57G>A) | dbSNP |
10 | g.104037831A>T | CA2722596967 | COL17A1 | c.2936-58T>A (n.2936-58T>A) c.3071-58T>A (n.3071-58T>A) | dbSNP |
10 | g.104037832C>A | CA2610800841 | COL17A1 | c.2936-59G>T (n.2936-59G>T) c.3071-59G>T (n.3071-59G>T) | gnomAD v4 |
10 | g.104037832C= | CA1933389601 | COL17A1 | c.2936-59G= (n.2936-59G=) c.3071-59G= (n.3071-59G=) | |
10 | g.104037832C>G | CA2574660980 | COL17A1 | c.2936-59G>C (n.2936-59G>C) c.3071-59G>C (n.3071-59G>C) | dbSNP gnomAD v4 |
10 | g.104037832C>T | CA659182346 | COL17A1 | c.2936-59G>A (n.2936-59G>A) c.3071-59G>A (n.3071-59G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.104037833G>A | CA659182349 | COL17A1 | c.2936-60C>T (n.2936-60C>T) c.3071-60C>T (n.3071-60C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104037833G= | CA1933389602 | COL17A1 | c.2936-60C= (n.2936-60C=) c.3071-60C= (n.3071-60C=) | |
10 | g.104037833G>T | CA2610800842 | COL17A1 | c.2936-60C>A (n.2936-60C>A) c.3071-60C>A (n.3071-60C>A) | gnomAD v4 |
10 | g.104037834G>A | CA2610800843 | COL17A1 | c.2936-61C>T (n.2936-61C>T) c.3071-61C>T (n.3071-61C>T) | gnomAD v4 |
10 | g.104037835A= | CA1933389603 | COL17A1 | c.2936-62T= (n.2936-62T=) c.3071-62T= (n.3071-62T=) | |
10 | g.104037835A>G | CA2610800844 | COL17A1 | c.2936-62T>C (n.2936-62T>C) c.3071-62T>C (n.3071-62T>C) | gnomAD v4 |
10 | g.104037835_104037836insT | CA1933389604 | COL17A1 | c.2936-63_2936-62insA (n.2936-63_2936-62insA) c.3071-63_3071-62insA (n.3071-63_3071-62insA) | dbSNP |
10 | g.104037836G>T | CA2610800845 | COL17A1 | c.2936-63C>A (n.2936-63C>A) c.3071-63C>A (n.3071-63C>A) | gnomAD v4 |
10 | g.104037837G>A | CA2610800846 | COL17A1 | c.2936-64C>T (n.2936-64C>T) c.3071-64C>T (n.3071-64C>T) | gnomAD v4 |
10 | g.104037837G>T | CA2610800847 | COL17A1 | c.2936-64C>A (n.2936-64C>A) c.3071-64C>A (n.3071-64C>A) | gnomAD v4 |
10 | g.104037837_104037846delinsGTGACCTGAA | CA1933389605 | COL17A1 | c.2936-73_2936-64delinsTTCAGGTCAC (n.2936-73_2936-64delinsTTCAGGTCAC) c.3071-73_3071-64delinsTTCAGGTCAC (n.3071-73_3071-64delinsTTCAGGTCAC) |