Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209617527A>C | CA423029554 | LAMB3 | c.3111T>G (p.Gly1037=) c.318T>G (p.Gly106=) c.2919T>G (p.Gly973=) | |
1 | g.209617527A>G | CA423029555 | LAMB3 | c.3111T>C (p.Gly1037=) c.318T>C (p.Gly106=) c.2919T>C (p.Gly973=) | ClinVar |
1 | g.209617527A>T | CA423029556 | LAMB3 | c.3111T>A (p.Gly1037=) c.318T>A (p.Gly106=) c.2919T>A (p.Gly973=) | gnomAD v4 |
1 | g.209617528C>A | CA344584195 | LAMB3 | c.3110G>T (p.Gly1037Val) c.317G>T (p.Gly106Val) c.2918G>T (p.Gly973Val) | |
1 | g.209617528C>G | CA344584191 | LAMB3 | c.3110G>C (p.Gly1037Ala) c.317G>C (p.Gly106Ala) c.2918G>C (p.Gly973Ala) | |
1 | g.209617528C>T | CA344584193 | LAMB3 | c.3110G>A (p.Gly1037Asp) c.317G>A (p.Gly106Asp) c.2918G>A (p.Gly973Asp) | gnomAD v4 |
1 | g.209617529C>A | CA344584199 | LAMB3 | c.3109G>T (p.Gly1037Cys) c.316G>T (p.Gly106Cys) c.2917G>T (p.Gly973Cys) | |
1 | g.209617529C>G | CA344584201 | LAMB3 | c.3109G>C (p.Gly1037Arg) c.316G>C (p.Gly106Arg) c.2917G>C (p.Gly973Arg) | |
1 | g.209617529C>T | CA344584203 | LAMB3 | c.3109G>A (p.Gly1037Ser) c.316G>A (p.Gly106Ser) c.2917G>A (p.Gly973Ser) | |
1 | g.209617530C>A | CA423029560 | LAMB3 | c.3108G>T (p.Leu1036=) c.315G>T (p.Leu105=) c.2916G>T (p.Leu972=) | gnomAD v4 |
1 | g.209617530C>G | CA423029559 | LAMB3 | c.3108G>C (p.Leu1036=) c.315G>C (p.Leu105=) c.2916G>C (p.Leu972=) | |
1 | g.209617530C>T | CA423029558 | LAMB3 | c.3108G>A (p.Leu1036=) c.315G>A (p.Leu105=) c.2916G>A (p.Leu972=) | |
1 | g.209617531A>C | CA344584205 | LAMB3 | c.3107T>G (p.Leu1036Arg) c.314T>G (p.Leu105Arg) c.2915T>G (p.Leu972Arg) | |
1 | g.209617531A>G | CA344584207 | LAMB3 | c.3107T>C (p.Leu1036Pro) c.314T>C (p.Leu105Pro) c.2915T>C (p.Leu972Pro) | |
1 | g.209617531A>T | CA344584209 | LAMB3 | c.3107T>A (p.Leu1036Gln) c.314T>A (p.Leu105Gln) c.2915T>A (p.Leu972Gln) | |
1 | g.209617532G>A | CA423029563 | LAMB3 | c.3106C>T (p.Leu1036=) c.313C>T (p.Leu105=) c.2914C>T (p.Leu972=) | |
1 | g.209617532G>C | CA344584211 | LAMB3 | c.3106C>G (p.Leu1036Val) c.313C>G (p.Leu105Val) c.2914C>G (p.Leu972Val) | |
1 | g.209617532G>T | CA344584213 | LAMB3 | c.3106C>A (p.Leu1036Met) c.313C>A (p.Leu105Met) c.2914C>A (p.Leu972Met) | |
1 | g.209617533C>A | CA344584215 | LAMB3 | c.3105G>T (p.Gln1035His) c.312G>T (p.Gln104His) c.2913G>T (p.Gln971His) | |
1 | g.209617533C>G | CA344584217 | LAMB3 | c.3105G>C (p.Gln1035His) c.312G>C (p.Gln104His) c.2913G>C (p.Gln971His) | |
1 | g.209617533C>T | CA423029566 | LAMB3 | c.3105G>A (p.Gln1035=) c.312G>A (p.Gln104=) c.2913G>A (p.Gln971=) | |
1 | g.209617534T>A | CA344584219 | LAMB3 | c.3104A>T (p.Gln1035Leu) c.311A>T (p.Gln104Leu) c.2912A>T (p.Gln971Leu) | |
1 | g.209617534T>C | CA344584221 | LAMB3 | c.3104A>G (p.Gln1035Arg) c.311A>G (p.Gln104Arg) c.2912A>G (p.Gln971Arg) | |
1 | g.209617534T>G | CA344584222 | LAMB3 | c.3104A>C (p.Gln1035Pro) c.311A>C (p.Gln104Pro) c.2912A>C (p.Gln971Pro) | gnomAD v4 |
1 | g.209617535G>A | CA344584228 | LAMB3 | c.3103C>T (p.Gln1035Ter) c.310C>T (p.Gln104Ter) c.2911C>T (p.Gln971Ter) | gnomAD v4 |
1 | g.209617535G>C | CA344584225 | LAMB3 | c.3103C>G (p.Gln1035Glu) c.310C>G (p.Gln104Glu) c.2911C>G (p.Gln971Glu) | |
1 | g.209617535G>T | CA344584227 | LAMB3 | c.3103C>A (p.Gln1035Lys) c.310C>A (p.Gln104Lys) c.2911C>A (p.Gln971Lys) | |
1 | g.209617536C>A | CA344584229 | LAMB3 | c.3102G>T (p.Lys1034Asn) c.309G>T (p.Lys103Asn) c.2910G>T (p.Lys970Asn) | |
1 | g.209617536C>G | CA344584230 | LAMB3 | c.3102G>C (p.Lys1034Asn) c.309G>C (p.Lys103Asn) c.2910G>C (p.Lys970Asn) | |
1 | g.209617536C>T | CA423029567 | LAMB3 | c.3102G>A (p.Lys1034=) c.309G>A (p.Lys103=) c.2910G>A (p.Lys970=) | ClinVar gnomAD v4 |
1 | g.209617537T>A | CA344584232 | LAMB3 | c.3101A>T (p.Lys1034Met) c.308A>T (p.Lys103Met) c.2909A>T (p.Lys970Met) | |
1 | g.209617537T>C | CA344584234 | LAMB3 | c.3101A>G (p.Lys1034Arg) c.308A>G (p.Lys103Arg) c.2909A>G (p.Lys970Arg) | |
1 | g.209617537T>G | CA344584236 | LAMB3 | c.3101A>C (p.Lys1034Thr) c.308A>C (p.Lys103Thr) c.2909A>C (p.Lys970Thr) | |
1 | g.209617538T>A | CA344584242 | LAMB3 | c.3100A>T (p.Lys1034Ter) c.307A>T (p.Lys103Ter) c.2908A>T (p.Lys970Ter) | |
1 | g.209617538T>C | CA344584240 | LAMB3 | c.3100A>G (p.Lys1034Glu) c.307A>G (p.Lys103Glu) c.2908A>G (p.Lys970Glu) | |
1 | g.209617538T>G | CA344584238 | LAMB3 | c.3100A>C (p.Lys1034Gln) c.307A>C (p.Lys103Gln) c.2908A>C (p.Lys970Gln) | |
1 | g.209617539G>A | CA423029568 | LAMB3 | c.3099C>T (p.Thr1033=) c.306C>T (p.Thr102=) c.2907C>T (p.Thr969=) | |
1 | g.209617539G>C | CA423029569 | LAMB3 | c.3099C>G (p.Thr1033=) c.306C>G (p.Thr102=) c.2907C>G (p.Thr969=) | ClinVar dbSNP |
1 | g.209617539G>T | CA423029571 | LAMB3 | c.3099C>A (p.Thr1033=) c.306C>A (p.Thr102=) c.2907C>A (p.Thr969=) | |
1 | g.209617540G>A | CA344584251 | LAMB3 | c.3098C>T (p.Thr1033Ile) c.305C>T (p.Thr102Ile) c.2906C>T (p.Thr969Ile) | dbSNP gnomAD v4 |
1 | g.209617540G>C | CA344584253 | LAMB3 | c.3098C>G (p.Thr1033Ser) c.305C>G (p.Thr102Ser) c.2906C>G (p.Thr969Ser) | |
1 | g.209617540G>T | CA344584255 | LAMB3 | c.3098C>A (p.Thr1033Asn) c.305C>A (p.Thr102Asn) c.2906C>A (p.Thr969Asn) | gnomAD v4 |
1 | g.209617541T>A | CA344584256 | LAMB3 | c.3097A>T (p.Thr1033Ser) c.304A>T (p.Thr102Ser) c.2905A>T (p.Thr969Ser) | |
1 | g.209617541T>C | CA344584258 | LAMB3 | c.3097A>G (p.Thr1033Ala) c.304A>G (p.Thr102Ala) c.2905A>G (p.Thr969Ala) | |
1 | g.209617541T>G | CA344584260 | LAMB3 | c.3097A>C (p.Thr1033Pro) c.304A>C (p.Thr102Pro) c.2905A>C (p.Thr969Pro) | |
1 | g.209617542C>A | CA344584263 | LAMB3 | c.3096G>T (p.Met1032Ile) c.303G>T (p.Met101Ile) c.2904G>T (p.Met968Ile) | |
1 | g.209617542C= | CA2484295892 | LAMB3 | c.3096G= (p.Met1032=) c.303G= (p.Met101=) c.2904G= (p.Met968=) | |
1 | g.209617542C>G | CA344584266 | LAMB3 | c.3096G>C (p.Met1032Ile) c.303G>C (p.Met101Ile) c.2904G>C (p.Met968Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617542C>T | CA344584265 | LAMB3 | c.3096G>A (p.Met1032Ile) c.303G>A (p.Met101Ile) c.2904G>A (p.Met968Ile) | COSMIC |
1 | g.209617543A>C | CA344584268 | LAMB3 | c.3095T>G (p.Met1032Arg) c.302T>G (p.Met101Arg) c.2903T>G (p.Met968Arg) |